Artículos de revistas:

1

Bouchalova, Katerina, Hana Flögelova, Pavel Horak, Jakub Civrny, Petr Mlcak, Richard Pink, Jaroslav Michalek, Petra Camborova, Zuzana Mikulkova y Eva Kriegova. "Juvenile Primary Sjögren Syndrome in a 15-Year-Old Boy with Renal Involvement: A Case Report and Review of the Literature". Diagnostics 14, n.º 3 (25 de enero de 2024): 258. http://dx.doi.org/10.3390/diagnostics14030258.

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Juvenile primary Sjögren syndrome (pSS) with renal involvement is extremely rare, reported approximately in 50 children, predominantly girls. Here, we present the first reported case of a male child with juvenile pSS with ocular surface disease (previously keratoconjunctivitis sicca), submandibular salivary gland involvement, and tubulointerstitial nephritis. First, two symptoms were clinically apparent at presentation. We illustrate here that kidney involvement in pSS should be actively looked for, as juvenile pSS may be associated with asymptomatic renal involvement. Immunophenotyping of peripheral blood cells using multicolor flow cytometry revealed at the time of diagnosis changes in both adaptive (T memory cells and B memory cells), and innate immunity (an increased activation of natural killer cells, as well as monocytes and neutrophils, and an increased representation of intermediate monocytes). Our case report points to the importance of kidney examination, early diagnosis and therapy in juvenile pSS, as well as highlights international collaboration to obtain more data for this rare disease.

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2

Schick, Bernhard, Lukas Pillong, Gentiana Wenzel y Silke Wemmert. "Neural Crest Stem Cells in Juvenile Angiofibromas". International Journal of Molecular Sciences 23, n.º 4 (9 de febrero de 2022): 1932. http://dx.doi.org/10.3390/ijms23041932.

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The etiology of juvenile angiofibroma (JA) has been a controversial topic for more than 160 years. Numerous theories have been proposed to explain this rare benign neoplasm arising predominately in adolescent males, focusing mainly on either the vascular or fibrous component. To assess our hypothesis of JA’s being a malformation arising from neural crest cells/remnants of the first branchial arch plexus, we performed immunohistochemical analyses of neural crest stem cells (NCSC) and epithelial-mesenchymal transition (EMT) candidates. Immunoexpression of the NCSC marker CD271p75 was observed in all investigated JA’s (n = 22), mainly around the pathological vessels. Close to CD271p75-positive cells, high MMP3-staining was also observed. Additionally, from one JA with sufficient material, RT-qPCR identified differences in the expression pattern of PDGFRβ, MMP2 and MMP3 in MACS®-separated CD271p75positive vs. CD271p75 negative cell fractions. Our results, together with the consideration of the literature, provide evidence that JA’s represent a malformation within the first branchial arch artery/plexus remnants deriving from NCSC. This theory would explain the typical site of tumor origin as well as the characteristic tumor blood supply, whereas the process of EMT provides an explanation for the vascular and fibrous tumor component.

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3

Ladha, Malika A. y Richard M. Haber. "Giant Juvenile Xanthogranuloma: Case Report, Literature Review, and Algorithm for Classification". Journal of Cutaneous Medicine and Surgery 22, n.º 5 (21 de mayo de 2018): 488–94. http://dx.doi.org/10.1177/1203475418777734.

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Juvenile xanthogranuloma (JXG) is a member of the non-Langerhans cell group of proliferative disorders of mononuclear phagocytes. JXG is a benign tumour of histiocytic cells. Classic JXG is divided into 2 main clinical subtypes: dome-shaped papules (<0.5 cm) and single/multiple nodules (<2.0 cm). A rare variant is referred to as giant; this term encompasses JXG lesions larger than 2.0 cm. In this article, we report a case of a congenital cutaneous giant JXG. In addition, we reviewed and analyzed all cases (n = 51) of giant JXG reported in the English literature. We propose an algorithm for classifying giant JXG based on the following factors: onset of lesions (congenital and acquired), number of lesions (solitary ± satellites and multiple), morphology of cutaneous/mucosal lesions (plaque, nodular, ulcerated-nodular, macular, and other), and extracutaneous manifestations.

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4

Snyder, Laura A. y Helen Michael. "Alveolar Rhabdomyosarcoma in a Juvenile Labrador Retriever: Case Report and Literature Review". Journal of the American Animal Hospital Association 47, n.º 6 (1 de noviembre de 2011): 443–46. http://dx.doi.org/10.5326/jaaha-ms-5693.

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A 7 mo old Labrador retriever presented for evaluation of facial swelling associated with a 5 cm oral mass extending caudally from the upper third premolar on the left side. Cytology revealed an atypical population of round cells of undetermined origin. A diagnosis of alveolar rhabdomyosarcoma (RMS) was reached via histopathology and confirmed with positive immunohistochemical staining for desmin. In humans, RMSs have a well-described round cell cytologic appearance. Few descriptions of veterinary cases of RMS exist. This report describes the cytologic appearance of alveolar RMS in a young dog and both summarizes and compares findings throughout the veterinary and human literature.

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5

Alfaro-Murillo, Alberto, Gabriela Ivankovich-Escoto, Joaquín Martínez-Arguedas, Melvin Calvo-Solís, Oscar Correa-Jiménez y Anders Fasth. "Selective IgA deficiency, juvenile idiopathic arthritis and anterior uveitis in a Costa Rican child. Coincidental diseases?. Case report and literature review". Revista Ciencias Biomédicas 11, n.º 3 (15 de julio de 2022): 243–49. http://dx.doi.org/10.32997/rcb-2022-3846.

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Backgroup: selective IgA deficiency is the most frequent primary immunodeficiency worldwide. Patients are usually asymptomatic. However, those cases with symptoms develop recurrent infections and increased risk of autoimmune and malignant diseases. On the other hand, rheumatic disorders are uncommon during childhood with juvenile idiopathic arthritis as the most common one. Case Presentation: we present the case of a female patient, who developed oligoarticular juvenile idiopathic arthritis at age 7 years. After the diagnosis, she developed acute anterior uveitis. During the initial immunological evaluation, the diagnosis of selective IgA deficiency was confirmed. A work-up for immunodeficiency demonstrated a normal T cell compartment. B cell subpopulations showed normal memory B lymphocytes, absence of transitional B cells, and an increase in the CD21 low unique subset. Conclusions: at the beginning of any rheumatological evaluation, the physician should request immunoglobulins levels, in order to detect possible primary antibodies deficiencies.

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6

Katargina, L. A., E. V. Denisova y Natal’ja A. Osipova. "HEREDITARY MACULAR DYSTROPHIES. PART 1. DYSTROPHIES ASSOCIATED WITH DYSFUNCTION OF RETINAL PIGMENT EPITHELIAL CELLS". Russian Pediatric Ophthalmology 13, n.º 2 (15 de junio de 2018): 103–8. http://dx.doi.org/10.18821/1993-1859-2018-13-2-103-108.

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Purpose - to acquaint the reader with a relatively rare heterogeneous group of diseases - hereditary macular dystrophies associated with damage to cells of retinal pigment epithelium and external segments of photoreceptors. А review of the literature based on publications from the Medline scientific medical articles database is presented. The review includes a description of the clinical picture, consideration of diagnosis and differential diagnosis of the main juvenile macular dystrophies, illustrated by own clinical examples.

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7

Kuo, Fang-Ying, Hock-Liew Eng, Shih-Hao Chen y Hsuan-Ying Huang. "Intramuscular Juvenile Xanthogranuloma in an Adult". Archives of Pathology & Laboratory Medicine 129, n.º 2 (1 de febrero de 2005): e31-e34. http://dx.doi.org/10.5858/2005-129-e31-ijxiaa.

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Abstract Juvenile xanthogranuloma (JXG) is a self-limited cutaneous lesion that most often occurs in infancy. Approximately 10% to 30% of JXGs occur in adult patients, where most cases present as cutaneous papulonodular lesions, with only rare cases involving extracutaneous sites. Intramuscular JXG is extremely rare and has received little attention. On review of the literature, all of the 6 previously reported intramuscular JXGs were noted in the pediatric population. The authors hereby describe a case of adult intramuscular JXG that occurred in a woman who initially had a dermal JXG in the nasal skin at the age of 48 years and then developed a slow-growing painless intramuscular JXG in the right forearm 4 years later. Both the dermal and intramuscular lesions revealed similar histologic features and consisted of diffuse infiltrates of histiocytes with eosinophilic and foamy cytoplasm, lymphocytes, eosinophils, and Touton giant cells in varying proportions. However, central fibrosis and a focal storiform arrangement of spindled fibroblast-like cells in the intramuscular lesion resulted in a histologic pattern reminiscent of a fibrous histiocytoma. Immunohistochemically, the intramuscular JXG was positive for CD68, factor XIIIa, CD31, and vimentin. This case underscores the fact that intramuscular JXG can also involve adult patients and its morphologic variation is more likely to be time dependent rather than site specific or age related.

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8

Itin, Kaspar, Peter Häusermann, Peter Itin y Nicole Fosse. "Symmetrical Facial Giant Plaque-Type Juvenile Xanthogranuloma: Case Report and Review of the Literature". Case Reports in Dermatology 13, n.º 2 (19 de julio de 2021): 399–406. http://dx.doi.org/10.1159/000515151.

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Juvenile xanthogranuloma (JXG) is the most common type of non-Langerhans cell histiocytosis. JXG is a rare benign tumor, which may be present at birth or develop later. The classical form of JXG is characterized by a red-yellowish benign papule or nodule with predilection sites on the head, neck, and trunk, although lesions can appear on extremities or extracutaneous sites. In most cases there is only one lesion, whereas numerous papules or nodules may occur. Special forms of JXG such as mixed, giant, subcutaneous, eruptive, clustered, and plaque-like have been reported and associations between JXG and systemic diseases have been made. Diagnosis mainly relies on the clinical appearance, and histology usually can confirm the disease. Here we present a very rare case of symmetrical giant facial plaque-type juvenile xanthogranuloma (SGFP-JXG) and compare it with classical JXG, variations of JXG, and discuss the differential diagnosis. A 4-year-old Caucasian female presented with plaque-like lesions composed of yellowish confluent papules on both the cheeks. The histological evaluation revealed a histiocytic lesion with a formation of Touton giant cells and immunohistochemistry results confirmed the diagnosis of the SGFP-JXG. In comparison to classical JXG, the onset of SGFP-JXG sometimes occurs later and the spontaneous resolution period may be prolonged. No associated diseases and no systemic involvements were observed. Histopathology is required to differentiate this form of JXG from other histiocytosis. To the best of our knowledge, only four cases of SGFP-JXG have been reported in the literature so far.

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9

Ivkovic-Kapicl, Tatjana, Ferenc Vicko, Lazar Popovic, Dragana Djilas y Tanja Lakic. "Secretory breast carcinoma in adulthood: A case report with literature review". Vojnosanitetski pregled 77, n.º 5 (2020): 556–59. http://dx.doi.org/10.2298/vsp180126143i.

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Introduction. Secretory breast carcinoma is rare subtype of breast carcinoma which occurs primarily in children and young adults, so in the past it was called juvenile carcinoma. Case report. A 67-year-old female patient presented with mass of the right breast since one month. After physical, routine laboratory examination and mammography, core needle biopsy was performed and histopathological examination confirmed invasive carcinoma. Immunohistochemically, estrogen-receptors (ER) and progesteron-receptors (PR) showed weak positive reaction in 10% of tumor cells, while human epidermal growth factor receptor-2 (HER-2) was without expression. After an adequate preoperative preparation, operation was done ? quadrantectomy with sentinel lymph node biopsy. Postoperatively, the patient was treated with 6 cycles of cyclophosphamide, methotrexate and fluorouracil (CMF) combination, radiotherapy (60 Gy) and tamoxifen. After 5-year follow-up the patient had no signs of the disease. Conclusion. Secretory breast cancer is a rare subtype of invasive breast carcinoma with wide age range of occurrence and good prognosis despite its triplenegative immunophenotype. Although the therapeutic management is non-consensual for this breast cancer special type, surgery is considered the mainstay of the treatment as well as the adjuvant chemotherapy and radiation.

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10

Paroli, Marino, Luca Spadea, Rosalba Caccavale, Leopoldo Spadea, Maria Pia Paroli y Nicola Nante. "The Role of Interleukin-17 in Juvenile Idiopathic Arthritis: From Pathogenesis to Treatment". Medicina 58, n.º 11 (28 de octubre de 2022): 1552. http://dx.doi.org/10.3390/medicina58111552.

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Background and Objectives: Interleukin-17 (IL-17) is a cytokine family consisting of six members and five specific receptors. IL-17A was the first member to be identified in 1993. Since then, several studies have elucidated that IL-17 has predominantly pro-inflammatory activity and that its production is involved in both the defense against pathogens and the genesis of autoimmune processes. Materials and Methods: In this review, we provide an overview of the role of interleukin-17 in the pathogenesis of juvenile idiopathic arthritis (JIA) and its relationship with IL-23, the so-called IL-23–IL-17 axis, by reporting updated findings from the scientific literature. Results: Strong evidence supports the role of interleukin-17A in the pathogenesis of JIA after the deregulated production of this interleukin by both T helper 17 (Th17) cells and cells of innate immunity. The blocking of IL-17A was found to improve the course of JIA, leading to the approval of the use of the human anti-IL17A monoclonal antibody secukinumab in the treatment of the JIA subtypes juvenile psoriatic arthritis (JPsA) and enthesitis-related arthritis (ERA). Conclusions: IL-17A plays a central role in the pathogenesis of JIA. Blocking its production with specific biologic drugs enables the effective treatment of this disabling childhood rheumatic disease.

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11

Zelennikov, О. V. y M. V. Mosyagina. "Sex steroid hormones and steroid secretory cells in the gonads of cyclostomes and fish". Trudy VNIRO 193 (9 de noviembre de 2023): 56–81. http://dx.doi.org/10.36038/2307-3497-2023-193-56-81.

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. The purpose of this work is to generalize data on the content of sex steroid hormones in cyclostomes and fish in connection with the different state of the gonads, as well as on the localization and ultrastructural organization of steroid secretory cells (SCs). Method used: generalization of literature data. Novelty: for the first time, data on the development of SC in the gonads of juvenile fish are presented on the scale of a literature review; changes in their localization and functional activity are shown. Results: Most of the data on the steroidogenic function of the gonads in fish were obtained in connection with the study of sex differentiation (inversion) and sexual maturation (spawning). The issues of the synthesis of sex steroid hormones and their molecular structure, blood levels in various states of the gonads, as well as the localization and ultrastructural organization of SCs are considered. It has been noted that SCs appear in the gonads long before sex differentiation and can be present among stromal, granulosa, and theca cells. In cyclostomes and fish — juvenile protogynous hermaphrodites in the gonads of genetic males, SCs do not appear in the membranes around the oocytes of the previtellogenesis period, which determines their deficiency of estrogen hormones and, as a result, sex inversion. With induced sex reversal, the development of the steroidogenic function of the gonads proceeds in the opposite direction to its natural development: in males, oocytes appear and steroid activity shifts from the stroma of the gonads into granulosa and theca; in females, on the contrary, secretory activity in the follicular membranes decreases and increases in the stroma of the gonads. Practical significance: the results of the analysis will give insight into the nature of sex steroid hormones, their dynamics in the blood, and their role in the implementation of various processes of gonadogenesis and gametogenesis before their practical use in fish farms.

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12

Gabal, S. y S. Talaat. "Secretory Carcinoma of Male Breast: Case Report and Review of the Literature". International Journal of Breast Cancer 2011 (2011): 1–5. http://dx.doi.org/10.4061/2011/704657.

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Secretory carcinoma is a rare low-grade breast carcinoma, initially termed “juvenile breast cancer,” but it is now known to occur in adults of both sexes. It is the only epithelial tumor of the breast with a balanced translocation, t(12;15), that creates an ETV6-NTRK3 gene translocation. In this paper, a 19-year-old male patient has had a right breast mass for 9 years which suddenly increased in size with no evidence of palpable axillary lymph nodes. The mass was excised for frozen section and was diagnosed as malignant growth for simple mastectomy. Microscopic examination revealed the classical features of secretory carcinoma. The tumor cells were positive for EMA and S-100 protein and focally positive for cytokeratin and ER but negative for progesterone receptor, CD34, and CEA. Four months later the patient developed ipsilateral axillary lymph node enlargement, with lymph node metastases in five of the dissected 19 lymph nodes. The patient was treated with six courses of chemotherapy and radiotherapy.Conclusion. Though considered an indolent neoplasm, secretory carcinoma does metastasize to lymph nodes. Surgery in the form of mastectomy with axillary clearance is the treatment of choice. This paper includes a rare case report of secretory carcinoma in young male patient, with axillary lymph node metastasis in spite of the indolent nature that this tumor is known to display.

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13

Radziszewska, Anna, Zachary Moulder, Elizabeth C. Jury y Coziana Ciurtin. "CD8+ T Cell Phenotype and Function in Childhood and Adult-Onset Connective Tissue Disease". International Journal of Molecular Sciences 23, n.º 19 (28 de septiembre de 2022): 11431. http://dx.doi.org/10.3390/ijms231911431.

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CD8+ T cells are cytotoxic lymphocytes that destroy pathogen infected and malignant cells through release of cytolytic molecules and proinflammatory cytokines. Although the role of CD8+ T cells in connective tissue diseases (CTDs) has not been explored as thoroughly as that of other immune cells, research focusing on this key component of the immune system has recently gained momentum. Aberrations in cytotoxic cell function may have implications in triggering autoimmunity and may promote tissue damage leading to exacerbation of disease. In this comprehensive review of current literature, we examine the role of CD8+ T cells in systemic lupus erythematosus, Sjögren’s syndrome, systemic sclerosis, polymyositis, and dermatomyositis with specific focus on comparing what is known about CD8+ T cell peripheral blood phenotypes, CD8+ T cell function, and CD8+ T cell organ-specific profiles in adult and juvenile forms of these disorders. Although, the precise role of CD8+ T cells in the initiation of autoimmunity and disease progression remains to be elucidated, increasing evidence indicates that CD8+ T cells are emerging as an attractive target for therapy in CTDs.

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Miles, DK, MH Freedman, K. Stephens, M. Pallavicini, EL Sievers, M. Weaver, T. Grunberger, P. Thompson y KM Shannon. "Patterns of hematopoietic lineage involvement in children with neurofibromatosis type 1 and malignant myeloid disorders". Blood 88, n.º 11 (1 de diciembre de 1996): 4314–20. http://dx.doi.org/10.1182/blood.v88.11.4314.4314.

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Abstract Children with neurofibromatosis type 1 (NF1) are at increased risk of developing malignant myeloid disorders, particularly juvenile chronic myelogenous leukemia/juvenile myelomonocytic leukemia (JCML/JMML). We investigated bone marrows from 11 such patients (8 boys and 3 girls) and detected allelic losses at the NF1 locus in 4 of them and probable losses in 2 others. To determine which hematopoietic cell lineages were derived from the abnormal clones, Epstein-Barr virus (EBV)-transformed cell lines and CD34+ cells were analyzed from 3 children with JCML with allelic losses in unfractionated marrow. CD34 cells from these 3 patients lacked the normal NF1 allele, whereas EBV cell lines retained it. Erythroblasts plucked from the burst-forming unit-erythroid colonies of one of these children lacked the normal NF1 allele. We also studied a 10-month-old boy with NF1 who developed an unusual myeloproliferative syndrome. His bone marrow and EBV cell line both showed loss of the normal NF1 allele. In our series and in the literature, male sex and maternal transmission of NF1 were associated with the highest risk of myeloid leukemia. These data (1) provide strong genetic evidence that NF1 functions as a tumor-suppressor in early myelopoiesis, (2) confirm the clonal nature of JCML/JMML, (3) suggest that the elevation in fetal hemoglobin seen in JCML/JMML is a result of primary involvement of erythroid progenitors in the malignant clone, (4) show consistent loss of NF1 in the CD34 cells of affected children and show that the malignant clone may also give rise to pre-B cells in some cases, and (5) implicate epigenetic factors in the development of leukemia in children with NF1.

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Miles, DK, MH Freedman, K. Stephens, M. Pallavicini, EL Sievers, M. Weaver, T. Grunberger, P. Thompson y KM Shannon. "Patterns of hematopoietic lineage involvement in children with neurofibromatosis type 1 and malignant myeloid disorders". Blood 88, n.º 11 (1 de diciembre de 1996): 4314–20. http://dx.doi.org/10.1182/blood.v88.11.4314.bloodjournal88114314.

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Children with neurofibromatosis type 1 (NF1) are at increased risk of developing malignant myeloid disorders, particularly juvenile chronic myelogenous leukemia/juvenile myelomonocytic leukemia (JCML/JMML). We investigated bone marrows from 11 such patients (8 boys and 3 girls) and detected allelic losses at the NF1 locus in 4 of them and probable losses in 2 others. To determine which hematopoietic cell lineages were derived from the abnormal clones, Epstein-Barr virus (EBV)-transformed cell lines and CD34+ cells were analyzed from 3 children with JCML with allelic losses in unfractionated marrow. CD34 cells from these 3 patients lacked the normal NF1 allele, whereas EBV cell lines retained it. Erythroblasts plucked from the burst-forming unit-erythroid colonies of one of these children lacked the normal NF1 allele. We also studied a 10-month-old boy with NF1 who developed an unusual myeloproliferative syndrome. His bone marrow and EBV cell line both showed loss of the normal NF1 allele. In our series and in the literature, male sex and maternal transmission of NF1 were associated with the highest risk of myeloid leukemia. These data (1) provide strong genetic evidence that NF1 functions as a tumor-suppressor in early myelopoiesis, (2) confirm the clonal nature of JCML/JMML, (3) suggest that the elevation in fetal hemoglobin seen in JCML/JMML is a result of primary involvement of erythroid progenitors in the malignant clone, (4) show consistent loss of NF1 in the CD34 cells of affected children and show that the malignant clone may also give rise to pre-B cells in some cases, and (5) implicate epigenetic factors in the development of leukemia in children with NF1.

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Ditrich, Hans y Gregorio DeMetrio. "Studies on the Orbital Heating Organ of the Swordfish (Xiphias Gladius) using Microvascular Corrosion Casting". Microscopy and Microanalysis 6, S2 (agosto de 2000): 560–61. http://dx.doi.org/10.1017/s1431927600035297.

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The swordfish ﹛Xiphias gladius), as well as billfishes (Istiophoridae), shows a conspicuous modification of one of its eye muscles: the dorsal rectus muscle. While the other eye muscles show an apparently normal, oculomotoric structure, the musculus rectus dorsalis is modified for heat production. While the remaining oculomotoric portion of this muscle shows normal muscular cells, the bulk of the organ is composed of cells structurally similar to brown adipose tissue (BAT) and blood vessels. The BAT cells are capable of direct (i.e., non-shivering) metabolic heat production. This heat is then transported and disseminated by the blood vessels in this organ.Microvascular corrosion casting is an excellent technique for studying the morphology of complicate vascular networks. However, studies using this technique on eye muscle vasculature are not frequently found in the literature. Juvenile swordfish, 1.4-1.8kg bodyweight, were collected in the Ionic sea. Immediately after catching, terminal anaesthesia was carried out with tricaine-methanesulfonate.

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17

Cheng, Dekui, Fengyu Yang, Ziji Li, Fan Qv y Wei Liu. "Juvenile Xanthogranuloma of the Sellar Region with a 5-Year Medical History: Case Report and Literature Review". Pediatric Neurosurgery 56, n.º 5 (2021): 440–47. http://dx.doi.org/10.1159/000515517.

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Introduction: Xanthogranuloma of the sellar region is a rare benign lesion, and there are few cases reported in children. Its histogenesis is controversial, and it is difficult to strictly differentiate it from craniopharyngioma (CP), Rathke’s cleft cyst, or pituitary adenoma. Case Presentation: A 16-year-old boy presented with a rare xanthogranuloma of the sellar region after complaining of retardation of growth 5 years previously. The ophthalmologic evaluation revealed no visual field disturbance. Endocrinological examination revealed hypopituitarism. Magnetic resonance imaging showed an intrasellar mass extending into the suprasellar region and compressing the optic chiasma, which appeared mixed signals on T1-weighted images. Endonasal transsphenoidal resection of the tumor was performed. Histological analysis of the tumor sections demonstrated granulomatous tissue with cholesterol clefts, hemosiderin deposits, fibrous tissues, multinucleated giant cells, and lymphocyte. Thus, the tumor was pathologically diagnosed as xanthogranuloma of the sellar region, which is different from adamantinomatous CP. There was no epithelial tissue in any part of the tumor including tumor capsule but have focal necrosis and calcification. His endocrinological dysfunction did not recover, so a hormonal replacement was continuously required. Conclusion: Xanthogranuloma of the sellar region is a rare entity but must be considered in the differential diagnosis of lesions of the sellar region, even in pediatric population. We should think about this disease when dealing with children with stunted growth accompanied by a long medical history. Our case demonstrates the natural progression of the disease, suggesting that xanthogranuloma of the sellar region without epithelial components may be an independent disease.

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Zhang, Wenbo, Zhe Cai, Dandan Liang, Jiaochan Han, Ping Wu, Jiayi Shan, Guangxun Meng y Huasong Zeng. "Immune Cell-Related Genes in Juvenile Idiopathic Arthritis Identified Using Transcriptomic and Single-Cell Sequencing Data". International Journal of Molecular Sciences 24, n.º 13 (25 de junio de 2023): 10619. http://dx.doi.org/10.3390/ijms241310619.

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Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease in children. The heterogeneity of the disease can be investigated via single-cell RNA sequencing (scRNA-seq) for its gap in the literature. Firstly, five types of immune cells (plasma cells, naive CD4 T cells, memory-activated CD4 T cells, eosinophils, and neutrophils) were significantly different between normal control (NC) and JIA samples. WGCNA was performed to identify genes that exhibited the highest correlation to differential immune cells. Then, 168 differentially expressed immune cell-related genes (DE-ICRGs) were identified by overlapping 13,706 genes identified by WGCNA and 286 differentially expressed genes (DEGs) between JIA and NC specimens. Next, four key genes, namely SOCS3, JUN, CLEC4C, and NFKBIA, were identified by a protein–protein interaction (PPI) network and three machine learning algorithms. The results of functional enrichment revealed that SOCS3, JUN, and NFKBIA were all associated with hallmark TNF-α signaling via NF-κB. In addition, cells in JIA samples were clustered into four groups (B cell, monocyte, NK cell, and T cell groups) by single-cell data analysis. CLEC4C and JUN exhibited the highest level of expression in B cells; NFKBIA and SOCS3 exhibited the highest level of expression in monocytes. Finally, real-time quantitative PCR (RT-qPCR) revealed that the expression of three key genes was consistent with that determined by differential analysis. Our study revealed four key genes with prognostic value for JIA. Our findings could have potential implications for JIA treatment and investigation.

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Pawłocik, Weronika, Laura Wojtala, Weronika Pawlak, Julia Szymańska, Agnieszka Możdżyńska, Lena Musiał, Ewa Grabowska, Kamil Kapłon, Katarzyna Pacek y Izabela Kamińska. "Juvenile idiopathic arthritis – classification and methods of treatment". Journal of Education, Health and Sport 18, n.º 1 (11 de abril de 2023): 76–88. http://dx.doi.org/10.12775/jehs.2023.18.01.009.

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Introduction Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease of unknown etiology that affect children. According to the definition of JIA, the disease begins before the age of 16 and lasts more than 6 weeks. The International League of Associations for Rheumatology (ILAR) has divided juvenile idiopathic arthritis into seven categories: systemic, oligoarticular, polyarticular RF (-), polyarticular RF (+), psoriatic, enthesitis-related and undifferentiated arthritis. Purpose The aim of this review is to present the classification, etiopathogenesis, diagnosis, treatment and complications of juvenile idiopathic arthritis. Methods Literature searches in PubMed, Google Scholarship, and open source books were used to gather information. Results Complex interactions between cells of the immune system are responsible for the pathophysiology of JIA and indicate the need to divide the disease into clinical subtypes, the heterogeneity of which requires different therapeutic actions. There are many groups of drugs with different mechanisms of action used in the treatment of JIA, including: T lymphocyte inhibitors, anti-TNFα, JAK inhibitors, IL-1 and IL-6 blockers. Despite the great progress and the commitment of scientists, there is still no treatment strategy to completely stop the development of the disease. Conclusions Scientific research conducted around the world has led to the recognition of numerous pathways leading to the formation of the inflammatory process and the symptoms of JIA. Knowledge of these mechanisms allows scientists to conduct research on further drugs, the aim of which is to find a treatment strategy that prevents permanent joint damage, improves treatment results, and enables sustainable remission. It is necessary to expand knowledge about the pathways responsible for the formation of the inflammatory process, the interruption of which would allow complete inhibition of the development of the disease.

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20

Satirer, Özlem, Selin Aytac, Baris Kuskonmaz, Sule Unal, Fatma Gumruk, Charlotte Niemeyer y Mualla Cetin. "Children with Juvenile Myelomonocytic Leukemia (JMML); A Single Center Experience". Blood 132, Supplement 1 (29 de noviembre de 2018): 5527. http://dx.doi.org/10.1182/blood-2018-99-119585.

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Abstract Introduction Juvenile myelomonocytic leukemia (JMML) is a unique, aggressive hematopoietic disorder of childhood caused by excessive proliferation of cells of monocytic and granulocytic lineages. Childhood JMML is classified as a bridging disorder between myelodysplastic syndrome (MDS) and myeloproliferative diseases.More than 95% of JMML patients are diagnosed under the age of six years. Children with JMML mostly present with hepatosplenomegaly, lymphadenopathy, bleeding, anemia, fever, recurrent infections, rash, failure to thrive and pulmonary disease. Approximately 90% of patients carry either somatic or germline mutations of PTPN-11,K-RAS,N-RAS,CBL or NF-1 in their leukemic cells. Aim We want to describe the clinical and laboratory features in 55 cases of JMML seen at the Hacettepe University Pediatric Hematology Department during a 18 year period (January 2000-June 2018). Patients & Methods There were 38 males and 17 females aged between 1 months and 168 months (median 36 months). On admission mean Hb, WBC and platelet was found to be 9.1±1.9 g/dl (range 5.7-14.6g/dl), 38.7±4.3 x10 3 µ/L (range 1.4 - 214 x10 3 µ/L) and 156 ± 7.8x 109 range (8-1598x109/L) , respectively.Results of cytogenetic analysis showed monosomy 7/7qdel in 16 cases.Somatic PTPN11 mutation was found in 23 children whereas somatic KRAS mutation in 7 and germline mutation in one case, somatic NRAS mutation in 3 cases and c-CBL mutation in 5 cases. On admission 49% of patients had no blast cells on the peripheral blood smear.But 3 of 55 patients had 100% blast cells in peripheral blood smear.Monosomy 7 mutation was positive in all of these 3 patients and one of these case had an history of familial MDS and a positive GATA mutation, one other had NF-1 mutation.All three patients were died despite hematopoietic stem cell transplantation(HSCT). On admission, 7 out of 55 patients had >30% blast cells in bone marrow aspiration and 3 of them had %100 blast cells on the peripheral smear. The rest of this group except one who had a positive KRAS mutation and diagnosed as AML-M4 were treated with HSCT and 4/6 were stil alive.On the other hand, 7 out of 55 patients had 20-30% blast cells in bone marrow aspiration on admission and none of these patients had neither monosomy 7/7qdel nor trisomy 8 mutation. c-CBL mutation was found to be positive in 5 case and all were still alive (two siblings with c-CBL and one other patient had a diagnosis of juvenile xanthogranulamatosis), and one patient with c-CBL mutation had a diagnosis of portal hypertension.On the other hand two siblings with monosomy 7 have a diagnosis of GATA mutation and both were died after HSCT.Almost 40% of this pediatric group (20/55) were died after a median follow up time 16 months (1-211 months). Discussion JMML is a clonal hematopoietic disorder of infancy and early childhood which results from oncogenic mutations in genes involved in the Ras pathway and allogeneic HSCT remains the only curative treatment more than 50% of patients.However, the timing of diagnosis and treatment is critical to outcome.Prompt HSCT is recommended for all children with NF1, somatic PTPN11 and KRAS mutations, and for most children with somatic NRAS mutations.'Watch and wait' strategy is usually for the group of patients with germline CBL mutations, specific somatic NRAS mutation, and in Noonan syndrome patients, cause spontaneous resolution has been reported in this group. Our results were compatible with the literature , however it seems that in our group despite allogeneic HSCT, relapse is the main treatment failure. Disclosures Niemeyer: Celgene: Consultancy, Membership on an entity's Board of Directors or advisory committees.

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Bertuccio, Salvatore Nicola, Davide Leardini, Daria Messelodi, Laura Anselmi, Francesca Manente, Federico Ragni, Salvatore Serravalle, Riccardo Masetti y Andrea Pession. "Are Induced Pluripotent Stem Cells a Step towards Modeling Pediatric Leukemias?" Cells 11, n.º 3 (29 de enero de 2022): 476. http://dx.doi.org/10.3390/cells11030476.

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Despite enormous improvements in pre-clinical and clinical research, acute leukemia still represents an open challenge for pediatric hematologists; both for a significant relapse rate and for long term therapy-related sequelae. In this context, the use of an innovative technology, such as induced pluripotent stem cells (iPSCs), allows to finely reproduce the primary features of the malignancy and can be exploited as a model to study the onset and development of leukemia in vitro. The aim of this review is to explore the recent literature describing iPSCs as a key tool to study different types of hematological malignancies, comprising acute myeloid leukemia, non-down syndrome acute megakaryoblastic leukemia, B cell acute lymphoblastic leukemia, and juvenile myelomonocytic leukemia. This model demonstrates a positive impact on pediatric hematological diseases, especially in those affecting infants whose onsets is found in fetal hematopoiesis. This evidence highlights the importance of achieving an in vitro representation of the human embryonic hematopoietic development and timing-specific modifications, either genetic or epigenetic. Moreover, further insights into clonal evolution studies shed light in the way of a new precision medicine era, where patient-oriented decisions and therapies could further improve the outcome of pediatric cases. Nonetheless, we will also discuss here the difficulties and limitations of this model.

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Jesus, A. A., C. M. A. Jacob, C. A. Silva, M. Dorna, A. C. Pastorino y M. Carneiro-Sampaio. "Common Variable Immunodeficiency Associated with Hepatosplenic T-Cell Lymphoma Mimicking Juvenile Systemic Lupus Erythematosus". Clinical and Developmental Immunology 2011 (2011): 1–4. http://dx.doi.org/10.1155/2011/428703.

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Common variable immunodeficiency (CVID) is a heterogeneous disorder with susceptibility to infections, autoimmune manifestations, and cancer. To our knowledge, CIVD with T-cell lymphoma mimicking juvenile systemic lupus erythematosus (JSLE) was not described in the literature, and one case was reported herein. An 8-year-old female was admitted in our Pediatric Immunology Unit with a clinical history of hypogammaglobulinemia, recurrent upper respiratory infections, and pneumonias. She had a marked decrease of three serum immunoglobulin isotypes, and the diagnosis of CVID was established. At the age of 17 years, she presented with oral ulceration, nonerosive arthritis, nephritis, serositis, cytopenia, positive antiphospholipid antibodies, and positive antinuclear antibody fulfilling the American College of Rheumatology (ACR) criteria for SLE. She was treated with intravenous methylprednisolone for three consecutive days, and intravenous immunoglobulin, and maintenance therapy of chloroquine, azathioprine and prednisone 40 mg/day. Two months later, she died of septic shock secondary to acute pneumonia. The necropsy showed hepatosplenic T-cell lymphoma with diffuse involvement of bone marrow, spleen, liver, and lungs. The lymphoma cells were positive for CD3 immunostaining and negative for CD20 and lysozyme. In conclusion, the association of CVID and hepatosplenic T-cell lymphoma may simulate JSLE diagnosis.

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Leão, Andréa Borges. "Vamos ao Brasil com Jules Verne?: processos editoriais e civilização nas Voyages Extraordinaires". Sociedade e Estado 27, n.º 3 (diciembre de 2012): 494–517. http://dx.doi.org/10.1590/s0102-69922012000300004.

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No século XIX, uma rede de conhecimentos sobre as diferenças culturais dos povos americanos marcou a edição destinada à instrução e diversão da juventude francesa. Uma das 62 Voyages Extraordinaires de Jules Verne, publicadas por Pierre-Jules Hetzel, é ambientada entre o Peru e o Brasil: La Jangada, huit cents lieues sur l'Amazone (1881). Na produção de literatura juvenil que se desenvolve e expande no comércio transatlântico da livraria francesa, sobressai uma psicogênese do Brasil. Por esse ângulo, a via de análise aberta pelo sociólogo Norbert Elias ajudou a enfrentar o problema das emoções humanas, no romance de viagem, e a conceituar a atividade mimética no livro de ciência e recreação.

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Miyake, Yohei, Susumu Ito, Mio Tanaka y Yukichi Tanaka. "Spontaneous regression of infantile dural-based non-Langerhans cell histiocytosis after surgery: case report". Journal of Neurosurgery: Pediatrics 15, n.º 4 (abril de 2015): 372–79. http://dx.doi.org/10.3171/2014.10.peds14378.

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The authors report the case of a large left occipital mass lesion in an 8-month-old boy who presented with seizure. Neuroimaging demonstrated an approximately 5-cm extraaxial tumor, and the patient underwent partial resection. The tumor was strongly attached to the tentorium and falx. In the postoperative course the residual lesion regressed spontaneously, and after 5 years only a slight residual tumor remained along the tentorium. Histopathological examination of the tumor revealed non-Langerhans cell histiocytosis (non-LCH). However, the tumor was not diagnosed as juvenile xanthogranuloma (JXG) because it lacked Touton giant cells. Hence, the authors described this lesion as a fibroxanthogranuloma. Most intracraniospinal non-LCHs have been reported as JXG; however, several cases of xanthomatous tumors with histopathological features resembling those of JXG have been described as fibrous xanthoma, xanthoma, fibroxanthoma, and xanthogranuloma. Among JXG and the xanthomatous tumors, a review of the literature revealed several cases of dural-based tumors; these dural-based tumors have had favorable courses, including the case described in this report. In addition, the patient in the present case experienced spontaneous regression of the residual tumor. The authors report this unique case and review the literature on isolated intracraniospinal non-LCHs, especially in cases of dural-based lesion.

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Sadiqo, Rauf, Alkawthar M. Abdulsada, Mustafa Ismail y Samer S. Hoz. "Ectopic schwannoma of the sellar region in a 1-year-old child: A case report and review of literature". Surgical Neurology International 13 (23 de septiembre de 2022): 438. http://dx.doi.org/10.25259/sni_658_2022.

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Background: Schwannomas are cranial and spinal nerves’ sheath tumors accounting for up to 8% of all intracranial neoplasms. Although typical intracranial schwannomas originate from Schwann cells surrounding cranial nerves, ectopic schwannomas are not associated with a known cranial nerve or have an unknown origin. The location of schwannomas may impose clinical challenges. Sellar region schwannomas are rare whether it is ectopic or not. Herein, we report a pediatric case of a 1-year-old female with ectopic, intra-supra sellar with a literature review. We report the first case of juvenile ectopic schwannoma in the sellar region. Methods: A PubMed Medline database search was performed by the following combined formula of medical subject headings (MESH) terms and keywords: ((sella turcica [MeSH Terms]) OR (sella*[Title/Abstract]) OR (ectopic [Title/Abstract]) AND ((neurilemmoma [MeSH Terms]) OR (schwannoma [Title/Abstract]) OR (neuroma [Title/Abstract]) OR (neurinoma [Title/Abstract])). Results: Total results of 206 articles were obtained. In exclusion of intraparenchymal and intraventricular schwannomas, only 34 articles remained. Thirty-nine cases were included in 34 articles. According to the reported cases, intrasellar schwannomas are more common in elderly individuals in an average of 49.5 years (range: 19– 79 years). They have a good prognosis and affect males to females equally (20:19). Conclusion: Ectopic schwannoma sited in the sellar region is rare. It is the first case to be reported in the pediatric age group with a literature review. This lesion should be highlighted and included in the differential diagnosis of sellar mass.

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Chien, Chih-Hao y Kue-Hsiung Hsieh. "Interleukin-2 Immunotherapy in Children". Pediatrics 86, n.º 6 (1 de diciembre de 1990): 937–43. http://dx.doi.org/10.1542/peds.86.6.937.

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Immunotherapy with interleukin (IL)-2 possesses great potential in the treatment of immdiatedne-mediated diseases and cancers. However, only a few reports on a small number of children have appeared in the literature. From March 1988 to March 1989, 11 children and adolescents were treated with IL-2. They included 1 patient with hepatocellular carcinoma, 1 with hepatoblastoma, 6 with childhood atopic dermatitis, and 3 with juvenile rheumatoid arthritis. The dosages ranged from 10 000 to 50 000 U/kg every 8 hours by intravenous drip. The following side effects were observed: anorexia, fever, and chillness (100%), general malaise (82%), irritability (64%), diarrhea (100%), nausea and vomiting (73%), weight gain (82%), edema (82%), abdominal distension (73%), oliguria (82%), cough (91%), dyspnea (27%), pleural effusion (40%), hypotension (82%), skin eruption (82%), oral ulcer (18%), enlarged liver (73%) liver function abnormalitis (82%), renal function impairment (36%), electrolyte imbalance (73%), anemia (91%), thrombocytopenia (54%), leukopenia (18%), and eosinophilia (73%). Immunologically, numbers of natural killer cells were increased and natural killer and lymphokine-activated killer cell activities were augmented after IL-2 treatment. There was a tendency for serum levels of IL-2 and receptor IL-2 to decrease, especially in patients with atopic eczema. Ten patients (91%) completed one course (9 to 12 days) of therapy, and the remaining patient interrupted the treatment because of intolerable adverse effects. Clinically, complete remission for 3 months was obtained in 1 juvenile rheumatoid arthritis patient, transient improvement (2 to 6 weeks) in all atopic dermatitis patients, minor response in the hepatoblastoma patient, and no response in the patient with hepatocellular carcinoma.

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Whooley, Maximillian, Beau Hsia, Darby Keirns, Andrew Luker, Peter T. Silberstein y Xinxin Wu. "Juvenile myelomonocytic leukemia: A national analysis of demographic features." Journal of Clinical Oncology 41, n.º 16_suppl (1 de junio de 2023): e19086-e19086. http://dx.doi.org/10.1200/jco.2023.41.16_suppl.e19086.

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e19086 Background: Juvenile Myelomonocytic Leukemia (JMML) is a rare hematological cancer originating in the bone marrow. It is a type of myelodysplastic syndrome (MDS) characterized by abnormal production of myeloid progenitor cells and monocytes. This malignancy is predominant in males, has a median age of diagnosis of 2 years, and carries a poor prognosis. It only accounts for 1% of all pediatric leukemias but constitutes 20-40% of pediatric MDS cases, making it the most common MDS subtype in children. Hematopoietic stem cell transplant (HSCT) is the only known cure for JMML, but its efficacy is just 50%. Without treatment, patients survive for a median of 10-12 months. Given the rarity of JMML, an analysis of demographic trends could offer valuable epidemiological insight. The National Cancer Database (NCDB) database was used to examine major demographic features of JMML. Methods: A retrospective analysis of all patients diagnosed with JMML between 2004 – 2020 in the NCDB (N = 242) was performed. Demographic factors including sex, race, Hispanic ethnicity, household income status, insurance status, urban/rural status, and Charlson-Deyo score were examined by descriptive statistics. Treatment statistics were also analyzed. Linear regression was used to determine incidence trends. Results: A total of 242 patients were identified with a histologically-confirmed diagnosis of JMML. Most patients were male (67.4%). The average age of diagnosis was 2 years (SD = 3.69, range = 0-33). The average incidence was 14.2 patients diagnosed per year (SD = 3.7, range = 9 – 21, R2 = 0.131). 93.8% had a Charlson-Deyo comorbidity score of 0. The majority of patients were White (74.4%), followed by Black (11.6%). 16.1% of patients were of Hispanic ethnicity. The distribution of median household income was 27.4% in the top quartile, 26.9% in the second, 26.9% in the third, and 18.7% in the fourth. Most patients were either privately insured (49.6%) or insured by Medicaid (42.6%). 75.5% of patients lived in a county with 250,000 people or more. Most patients received treatment (84.6%), while some only received active surveillance (8.7%) or no treatment (6.7%). Conclusions: This is the first NCDB analysis describing the demographic trends of JMML. Patients were twice as likely to be male than female. They were most likely to be White, with an average age of 2 years. This data reflects the expected age group and sex/race predominance described in the literature. The proportion of Hispanic JMML patients was comparable to Hispanics in the general US population. JMML appeared to be nearly evenly distributed among the top three household income quartiles. The lowest income quartile and rural inhabitants were least affected by this disease, which may indicate underdiagnosis in these populations. Further studies are needed to better define the relevance of these individual factors in the diagnosis, treatment, and survival of patients with JMML.

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Khurana, Kamal K. y Anthony J. Mortelliti. "The Role of Fine-Needle Aspiration Biopsy in the Diagnosis and Management of Juvenile Hemangioma of the Parotid Gland and Cheek". Archives of Pathology & Laboratory Medicine 125, n.º 10 (1 de octubre de 2001): 1340–43. http://dx.doi.org/10.5858/2001-125-1340-trofna.

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Abstract Background.—The current recommendation for the management of juvenile hemangiomas (JH) is to delay treatment in the hope of spontaneous regression. However, accurate diagnosis is necessary before considering conservative management. Traditionally, the diagnosis of JH has required excisional biopsy. The cytology literature on this relatively rare neoplasm is sparse. Objective.—To present our experience with fine-needle aspiration in the diagnosis and management of JH. Design.—Three cases with a cytologic diagnosis consistent with JH of the parotid gland and cheek were identified from our cytopathology files. Aspirate smears, immunohistochemical studies, computed tomographic scan findings, and clinical follow-up were reviewed. Results.—Patients were female infants ranging in age from 3 to 9 months and presented with an oval firm mass (size range, 2.0–5.0 cm) involving the parotid gland (2 cases) and cheek (1 case). Computed tomographic scan with contrast demonstrated homogeneous enhancement. Aspirate smears revealed spindle-shaped cells in sheets and clusters in a background of blood. The parotid gland aspirates and cell block preparations revealed ductal structures entrapped in sheets of spindle-shaped cells. Immunohistochemical studies revealed prominent vascular spaces lined by CD34 and factor VIII–positive flattened endothelial cells. The diagnosis of JH was rendered on the basis of the cytologic findings in conjunction with the radiologic and clinical findings. On clinical follow-up (8–24 months), none of the patients has shown any progression of the lesion. Conclusions.—Fine-needle aspiration, in conjunction with imaging studies, is a useful tool in the diagnosis and management of JH. It eliminates the need for surgical excision for diagnostic purposes and allows for clinical follow-up of patients with JH.

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Darne, Sharmela y Abiola Makanjuola. "PA32 A rare case of symmetrical giant facial plaque-type juvenile xanthogranuloma". British Journal of Dermatology 191, Supplement_1 (28 de junio de 2024): i136—i137. http://dx.doi.org/10.1093/bjd/ljae090.287.

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Abstract Juvenile xanthogranuloma (JXG), a form of non-Langerhans cell histiocytosis, is a rare benign condition estimated to affect 1 per million children. In 80% it presents as a solitary papule or nodule. There are several described subtypes of JXG including mixed, giant, subcutaneous, eruptive, clustered and plaque-like. Symmetrical giant facial plaque-type JXG is a very rare subtype, first described by Gunson and Birchall in 2008 [Gunson TH, Birchall NM. Symmetrical giant facial plaque-type juvenile xanthogranuloma. J Am Acad Dermatol 2008; 59 (2 Suppl. 1): S56–7]. We present a 2-year-old girl with a slowly progressive, asymptomatic, symmetrical orange-coloured rash on both cheeks that started around age 1 year. She was otherwise well. Examination showed well demarcated, orange-coloured indurated plaques covering both cheeks in a mask-like distribution. There was no lymphadenopathy or hepatosplenomegaly. There were no signs of neurofibromatosis. Full blood count, renal and liver function tests and lipids were normal. Biopsy showed subepidermal sheets of histiocytic proliferation. Lesional cells were positive for CD68 and negative for SOX10, compatible with JXG. She is currently awaiting ophthalmology assessment and an ultrasound scan of her abdomen. Over the course of her follow-up, the plaques have slowly extended, spreading onto the temples and chin, the axillae and both upper arms. JXG belongs to the proliferative dendritic-cell-related disorders and is the commonest form of non-Langerhans histiocytosis (Itin K, Häusermann P, Itin P, Fosse N. Symmetrical facial giant plaque-type juvenile xanthogranuloma: case report and review of the literature. Case Rep Dermatol 2021; 13: 399–406). It is most often characterized by a solitary red–yellowish benign papule (< 0.5 cm) or nodule (< 2 cm) that usually involves the head and neck (42%) or trunk (20–40%), although involvement at any body site can occur, including extracutaneous sites (the eye being the most common). It may be congenital, but most cases develop in the first year of life. It more commonly affects male patients, in a ratio of up to 7 : 1. There is usually spontaneous resolution, which takes months to years, leaving an atrophic scar. The giant symmetric facial subtype of JXG is exceptionally rare, with only five reported cases worldwide. In these cases, there was no spontaneous resolution during a follow-up period of between 2 and 6 years. None of the reported cases had systemic or extracutaneous involvement. Treatment options are undefined – one child had a partial response to a single fractionated CO2 laser treatment. We present this case to highlight awareness of this unusual presentation.

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Quiroz-Padilla, Maria Fernanda, Gemma Guillazo-Blanch, Magdy Y. Sanchez, Maria Andrea Dominguez-Sanchez y Rosa Margarita Gomez. "Effects of Excitotoxic Lesion with Inhaled Anesthetics on Nervous System Cells of Rodents". Current Pharmaceutical Design 24, n.º 1 (22 de marzo de 2018): 4–14. http://dx.doi.org/10.2174/1381612823666170817125015.

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Different anesthesia methods can variably influence excitotoxic lesion effects on the brain. The main purpose of this review is to identify potential differences in the toxicity to nervous system cells of two common inhalation anesthesia methods, isoflurane and sevoflurane, used in combination with an excitotoxic lesion procedure in rodents. The use of bioassays in animal models has provided the opportunity to examine the role of specific molecules and cellular interactions that underlie important aspects of neurotoxic effects relating to calcium homeostasis and apoptosis activation. Processes induced by NMDA antagonist drugs involve translocation of Bax protein to mitochondrial membranes, allowing extra-mitochondrial leakage of cytochrome C, followed by sequence of changes that ending in activation of CASP-3. The literature demonstrates that the use of these anesthetics in excitotoxic surgery increases neuroinflammation activity facilitating the effects of apoptosis and necrosis on nervous system cells, depending on the concentration and exposure duration of the anesthetic. High numbers of microglia and astrocytes and high levels of proinflammatory cytokines and caspase activation possibly mediate these inflammatory responses. However, it is necessary to continue studies in rodents to understand the effect of the use of inhaled anesthetics with excitotoxic lesions in different developmental stages, including newborns, juveniles and adults. Understanding the mechanisms of regulation of cell death during development can potentially provide tools to promote neuroprotection and eventually achieve the repair of the nervous system in pathological conditions.

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Kim, Zehwan y Jong Ho Lee. "Neurofibromatosis Symptom-Lacking B-Cell Lineage Acute Lymphoblastic Leukemia with Only an NF1 Gene Pathogenic Variant". Diagnostics 13, n.º 8 (20 de abril de 2023): 1486. http://dx.doi.org/10.3390/diagnostics13081486.

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Next-generation sequencing technology has improved molecular genetic analysis, and many molecular genetic studies have been utilized for diagnostic classification, risk stratification, and prognosis prediction of acute lymphoblastic leukemia (ALL). Inactivation of neurofibromin or Nf1, a protein derived from the NF1 gene, causes Ras pathway regulation failure, which is related to leukemogenesis. Pathogenic variants of the NF1 gene in B-cell lineage ALL are uncommon, and in this study, we reported a pathogenic variant that is not registered in any public database. The patient diagnosed with B-cell lineage ALL had no clinical symptoms of neurofibromatosis. Studies on the biology, diagnosis, and treatment of this uncommon disease, as well as other related hematologic neoplasms, such as acute myeloid leukemia and juvenile myelomonocytic leukemia, were reviewed. Biological studies included epidemiological differences among age intervals and pathways for leukemia, such as the Ras pathway. Diagnostic studies included cytogenetic, FISH, and molecular tests for leukemia-related genes and ALL classification, such as Ph-like ALL or BCR-ABL1-like ALL. Treatment studies included pathway inhibitors and chimeric antigen cell receptor T-cells. Resistance mechanisms related to leukemia drugs were also investigated. We believe that these literature reviews will enhance medical care for the uncommon diagnosis of B-cell lineage ALL.

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Rodríguez González, P., D. Fernández Fernández, I. Gonzalez Fernandez, R. Dos-Santos, P. Castro-Santamaria, M. Sanchez-Wonenburger, J. L. Puga Guzmán et al. "AB1243 EFFICACY OF ABATACEPT IN THE TREATMENT OF JUVENILE IDIOPATHIC ARTHRITIS ASSOCIATED UVEITIS". Annals of the Rheumatic Diseases 81, Suppl 1 (23 de mayo de 2022): 1733.1–1733. http://dx.doi.org/10.1136/annrheumdis-2022-eular.2451.

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BackgroundJuvenile idiopathic arthritis (JIA) is the most common rheumatic disease in pediatric age, uveitis IS the most frequent extra-articular complication (1). Uveitis, if not properly treated, can lead to potentially irreversible ocular complications such as blindness.The treatment of uveitis associated with JIA (U-JIA) remains a challenge due to the aggressiveness of the disease and the frequency of complications.Following the current guidelines for screening and treatment of uveitis, the use of topical and sistemic corticosteroids, Methotrexate, cyclosporine or some biological drugs such as Adalimumab constitute the mainstay of treatment in this manifestation.In some refractory cases, the use of Abatacept has been reportedObjectivesTo analyze the efficacy of Abatacept in the treatment of U-JIA from the data avaliable in the scientific literature.MethodsWe perform a systematic review of the scientific literature, following the PRISMA statement, using the following electronic databases: Medline, Embase, Cochrane Library and Web of Science.ResultsAn overall of 89 bibliographic references fulfill the inclusion criteria. A total of 64 patients from 6 studies were followed for a mean time per patient of 11.5 months. The mean age of onset of JIA was 5.25 years, with a time of evolution of the disease of 7 and 11.85 years.In all the series included, a high percentage of patients showed complications secondary to ocular inflammation (synechia, band keratopathy, cataracts, macular cystic edema and/or ocular hypertension) as well as visual deficits secondary to JIA-U.All patients, fhave shown refractoriness to conventional DMARDs, as well as anti-TNF biological drugs.In all the studies, the best correct visual activity (BCVA) is used as main outcome measure. Another outcome measures were used: number of uveitis flares, the erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP), or the number of cells present in the anterior eye chamber.Four series of cases showed an improvement or stabilization of visual acuity after Abatacept treatment. Two studies provided variations in visual acuity that are not statistically significant.Regarding the efficacy of Abatacept, we can observe improvement, in the most of the studies we observed a decrease in the severity of the ocular inflammation and/or its complete remission.Due to the lack of comparable data, a meta-analysis could not be performed. However the data suggest a clear recovery of t JIA-U patients refractory to conventional treatment.ConclusionAbatacept is shown as a promising drug in the treatment of U-JIA, considering its efficacy in improving visual acuity, as well as in the control of flare-ups and the decrease in inflammatory eye symptoms. However, more studies are necessary to corroborate the efficacy of AbataceptReferences[1]Sen ES, Ramanan A V. Juvenile idiopathic arthritis-associated uveitis. Best Pract Res Clin Rheumatol. 2017;31(4):517-534. doi:10.1016/j.berh.2018.01.002[2]Constantin T, Foeldvari I, Anton J, et al. Consensus-based recommendations for the management of uveitis associated with juvenile idiopathic arthritis: The SHARE initiative. Ann Rheum Dis. 2018;77(8):1107-1117. doi:10.1136/annrheumdis-2018-213131Disclosure of InterestsNone declared

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Themeli, Olga. "Suicide in the Greek Penal System and the Problem of Various Limitations in Relevant Studies". Crisis 27, n.º 3 (mayo de 2006): 135–39. http://dx.doi.org/10.1027/0227-5910.27.3.135.

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Suicides in prison are not merely self-destructive acts or a “cry for help.” They reflect the inherent need for freedom and the repercussions of imprisonment. SPACE statistics on suicides in prison reveal a rate above 10 per 10,000 in 10 European countries, 4 of which have a rate above 20. Greek data do not appear in all SPACE statistics. This fact has stimulated the present paper. Unpublished data obtained from the Greek Ministry of Justice reveal that Greece belongs to the group of countries with a rate below 10 in 1995 (the year of SPACE statistics). However, the suicide rates fluctuated widely in Greece from a low rate of 3.2 per 10,000 prisoners (convicted, on remand, or hospitalized) in 1982 to the incredibly high rate of nearly 40 in the year 1979 (11 suicides, 10 of which occurred in prison hospitals). A review of the literature indicates that various limitations mentioned in relevant studies lie in the unreliability of data (doubts about the validity of official statistics, missing data in archives, missing files on the victims, suicide in juvenile institutions not always recorded separately, etc.). The research emphasizes the importance of improving suicide statistics (recording, clearing up the incidents of deaths that are recorded without specification of cause, etc.) in order to plan and enforce suicide prevention and intervention strategies that seem to “work” in a particular milieu and are not debatable (e.g., the use of “suicide proof” cells).

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Hernández-Núñez, Ismael, Ana Quelle-Regaldie, Laura Sánchez, Fátima Adrio, Eva Candal y Antón Barreiro-Iglesias. "Decline in Constitutive Proliferative Activity in the Zebrafish Retina with Ageing". International Journal of Molecular Sciences 22, n.º 21 (28 de octubre de 2021): 11715. http://dx.doi.org/10.3390/ijms222111715.

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It is largely assumed that the teleost retina shows continuous and active proliferative and neurogenic activity throughout life. However, when delving into the teleost literature, one finds that assumptions about a highly active and continuous proliferation in the adult retina are based on studies in which proliferation was not quantified in a comparative way at the different life stages or was mainly studied in juveniles/young adults. Here, we performed a systematic and comparative study of the constitutive proliferative activity of the retina from early developing (2 days post-fertilisation) to aged (up to 3–4 years post-fertilisation) zebrafish. The mitotic activity and cell cycle progression were analysed by using immunofluorescence against pH3 and PCNA, respectively. We observed a decline in the cell proliferation in the retina with ageing despite the occurrence of a wave of secondary proliferation during sexual maturation. During this wave of secondary proliferation, the distribution of proliferating and mitotic cells changes from the inner to the outer nuclear layer in the central retina. Importantly, in aged zebrafish, there is a virtual disappearance of mitotic activity. Our results showing a decline in the proliferative activity of the zebrafish retina with ageing are of crucial importance since it is generally assumed that the fish retina has continuous proliferative activity throughout life.

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Tyndall, Alan. "Successes and Failures of Stem Cell Transplantation in Autoimmune Diseases". Hematology 2011, n.º 1 (10 de diciembre de 2011): 280–84. http://dx.doi.org/10.1182/asheducation-2011.1.280.

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Abstract Over the past 15 years, more than 1500 patients have received HSCT, mostly autologous, as treatment for a severe autoimmune disease (AD). More than 1000 of these have been registered in the European Group for Bone Marrow Transplantation (EBMT) and European League Against Rheumatism (EULAR) combined database. A recent retrospective analysis of 900 patients showed that the majority had multiple sclerosis (MS; n = 345) followed by systemic sclerosis (SSc; n = 175), systemic lupus erythematosus (SLE; n = 85), rheumatoid arthritis (RA; n = 89), juvenile idiopathic arthritis (JIA; n = 65), and idiopathic cytopenic purpura (ITP; n = 37). An overall 85% 5-year survival and 43% progression-free survival was seen, with 100-day transplantation-related mortality (TRM) ranging between 1% (RA) and 11% (SLE and JIA). Approximately 30% of patients in all disease subgroups had a complete response, often durable despite full immune reconstitution. In many patients, such as in those with SSc, morphological improvement such as reduction of skin collagen and normalization of microvasculature was documented beyond any predicted known effects of intense immunosuppression alone. The high TRM was in part related to conditioning intensity, comorbidity, and age, but until the results of the 3 prospective randomized trials are known, an evidence-based modification of the conditioning regimen will not be possible.1 In recent years, multipotent mesenchymal stromal cells (MSCs) have been tested in various AD, exploiting their immune-modulating properties and apparent low acute toxicity. Despite encouraging small phase 1/2 studies, no positive data from randomized, prospective studies are as yet available in the peer-reviewed literature.

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Buford, J. A., M. Inase y M. E. Anderson. "Contrasting locations of pallidal-receiving neurons and microexcitable zones in primate thalamus". Journal of Neurophysiology 75, n.º 3 (1 de marzo de 1996): 1105–16. http://dx.doi.org/10.1152/jn.1996.75.3.1105.

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1. In two awake, juvenile male Macaca fascicularis monkeys, microstimulation was applied in ventralis anterior (VA), ventralis lateralis (VL), or ventralis posterior lateralis (VPL) of the thalamus. Thalamic recording was used to identify the region that contained pallidal-receiving (PR) thalamic neurons, cells that responded orthodromically to stimulation in the internal pallidal segment (GPi). Thalamic stimulation was used to elicit motor responses. Penetrations in the thalamus and the pallidum focused on areas with activity related to contralateral arm movement. Fifty-one PR cells were identified electrophysiologically in VL oralis (VLo), VL caudalis (VLc) and VA pars parvocellularis (VApc). 2. With a subject at rest, trains of stimuli were applied through the thalamic microelectrode. Palpable or visible muscle twitches or joint movements were evoked by short trains (12 pulses) of stimuli applied in VLc and VPL oralis (VPLo); thresholds there ranged from 5 to 75 microA. In VA and VLo, areas where PR neurons were located, even longer trains (24 pulses) of stimuli with currents up to 200 microA usually failed to evoke movement. In the caudal portions of VLo, near VPLo, there were some microexcitable sites found near PR cells where stimuli at approximately 50 microA elicited movement. 3. From microstimulation studies combined with histological reconstruction, Ashe and co-workers hypothesized that microexcitable zones were cerebellar receiving areas (CR) and nonexcitable zones were PR areas. Our data support theirs and add electrophysiological identification of PR areas. Further, we injected wheat germ agglutinin-horseradish peroxidase (WGA-HRP) into the thalamus at one of the more rostral microexcitable sites, just caudal and lateral to identified PR cells. The tetra-methyl benzidine-reacted HRP label was found in the contralateral deep cerebellar nuclei (DCN) but not in ipsilateral GPi, showing that even this rostral microexcitable zone was a CR area. 4. Together with evidence from the literature, the data are consistent with the hypothesis that PR cells have relatively weak access to spinal-destined motor outputs, whereas thalamocortical neurons from VPLo and VLc have more secure access. In addition to characteristics of cell discharge and responses to somatosensory stimulation, microexcitability may be a further aid in tentative electro-physiological identification of PR versus CR areas of the motor thalamus without necessarily recording thalamic neuronal responses to stimulation in GPi or the DCN.

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37

Meyer, Karsten y Thomas Bartolomaeus. "Ultrastructure and formation of the hooked setae in Owenia fusiformis delle Chiaje, 1842: implications for annelid phylogeny". Canadian Journal of Zoology 74, n.º 12 (1 de diciembre de 1996): 2143–53. http://dx.doi.org/10.1139/z96-243.

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Several members of the Annelida bear apically curved or hooked setae that are aligned in a transverse row inside the neuropodial rim. Based on the hypothesis that these specific setae characterize a monophyletic group within the Annelida, the structure and development of the hooked seta in Owenia fusiformis are analysed and compared with data from other annelids with such setae. The neuropodial hooks of O. fusiformis are arranged in multiple transversal rows or setal patches on each side of the body from the fourth setiger onwards. The setae are curved distally and consist of two identical spines lying side by side at the same level. Their tips generally point ventrofrontally. Within each patch, the setae lie inside a setal follicle that consists of a basal chaetoblast, at least one follicle cell, and varying numbers of epidermal cells. Each setal patch is basally surrounded by an extracellular matrix that is continuous with the subepidermal basal lamina. An additional discontinuous extracellular matrix lies between the epidermis and the follicle cells. It is of functional significance for the attachment of the epidermal cells and seems to be related to the special organization of the setal patches, because it is absent in juveniles; they have single neuropodial rows of hooked setae per segment. New setae are formed at the dorsal and caudal edges of each patch, whereas the degeneration of setae is observed at the frontal edge of each patch. Microvilli project from the apex of the chaetoblast into canals within the fully differentiated setae. These canals remain when the microvilli are withdrawn from the seta during formation. Each hook is formed by a single large microvillus. The results of the present paper substantiate the hypothesis of a homology of the hooked setae in the Oweniida and other Annelida. These results and data from the literature support the hypothesis that the Oweniida is the sister-group of a monophylum which consists of the Terebellida, Pogonophora, and Sabellida.

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38

KURAKBAYEV, Ye, B. TURDALIYEVA, L. MANZHUOVA y V. SCHUKIN. "RISK FACTORS AND EARLY SIGNS OF CRITICAL CONDITIONS IN CHILDREN WITH ACUTE LYMPHOBLASTIC LEUKEMIA ADMITTED TO THE INTENSIVE CARE UNIT". Oncologia i radiologia Kazakhstana 69, n.º 3 (10 de octubre de 2023): 38–46. http://dx.doi.org/10.52532/2663-4864-2023-3-69-38-46.

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Relevance: Acute lymphoblastic leukemia (ALL) is the most common cancer among children, accounting for nearly a quarter of all childhood cancers. The study aimed to determine the risk factors and signs of critical conditions in children with acute lymphoblastic leukemia admitted to an intensive care unit (ICU). Methods: The approach used was a systematic review. Data was collected from sources published in 2019-2023. Four cohort studies, four retrospective analyses, two literature reviews, one case-control study, and one case study were included in this systematic review. Results: The prognosis in pediatric ALL depends on the initial number of blast cells in the peripheral blood. Patients with B-cell precursor acute lymphoblastic leukemia (BCP ALL) and low blast cell numbers survived better than patients with T-cell acute lymphoblastic leukemia (T-ALL) and low cell count. IL1B and NLRP1 genetic polymorphisms enhanced ALL risk and reduced infectious comorbidity. However, these gene polymorphisms must be confirmed in juvenile leukemia. KRAS, FLT3, NRAS, PTPN11, KMT2D, PTEN, and NOTCH1 gene mutations affected pediatric ALL patient features and treatment results. These mutations demonstrate the relevance of genetic profiling in risk classification and tailored management. Gene variations and availability of effective medication contributed. Pediatric BCP-ALL patients with the PAX5P80R mutation had worse 5-year overall survival, higher white blood cell counts, male preponderance, and more genetic abnormalities. Pediatric BCP-ALL focused on genetic analysis and risk stratification. Children of African American and European American ancestry showed varied incidence, recurrence, and outcome rates for ALL. African American children exhibited lower incidence but greater recurrence rates and poorer prognosis than European American children. Conclusion: Risk factors for these patients’ admission to ICU include comorbidities, infectious diseases, hypoxia, and hemodynamic instability, as well as age and baseline white blood cell count at diagnosis.

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39

Auger, Sophie, Genevieve Margueritte, Renaud Tichit, Basheer Khalil, Philippe Quittet, Nathalie Fegueux, Patrice Ceballos y Jean-Francois Rossi. "Multiple Myeloma Is Exceptional in Paediatrics: Report of One Case From 1200 Patients in a Single Institution." Blood 114, n.º 22 (20 de noviembre de 2009): 4957. http://dx.doi.org/10.1182/blood.v114.22.4957.4957.

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Abstract Abstract 4957 Multiple myeloma (MM), a disease usually observed in elderly patients, is extremely rare below 30 years of age. We present a case of a MM in a 10-year-old boy who has been admitted in September 2007 to the paediatric unit from the university hospital in Montpellier, with a fracture of his left femoral bone after a rugby match. In his history, he was known to present a juvenile myelomonocytic leukaemia (JMML) when he was 4-month-old in December 1998. For this diagnosis, he has been treated with aracytine and hydroxyurea for 4 years and he got a complete response (CR) since July 2005. At admission, surprisingly the radiography showed two lytic bone lesions. At MRI, it was found proximal and distal medullar metadiaphyseal spreading associated to a fracture, with no clinical symptom. The histology of the two tissue biopsies showed large dystrophic plasma cells, MI 15 positive with no clear evidence of a monoclonality by using light chain immunostaining. The bone marrow biopsy showed an interstitial infiltrate of dystrophic plasma cells, with only lambda light chain expression. Five percent of dystrophic plasma cells were observed on bone marrow smears. The monoclonal component IgG Lamda was 3.56 G/dL. Free kappa and lambda light chain dosages were respectively 5.65 mg/L and 766 mg/L, with a kappa lambda ratio under 0.01. Proteinuria was 0.64 g/day, haemoglobin was 106 G/L, and Beta2 microglobulin was 2.6mg/L. There was no hypercalcaemia and serum albumin and creatinin clearance were normal. Plasma cell labelling index (PCLI) was 1.16 % in the bone marrow and 6.6 circulating plasma cells/μL were counted in peripheral blood. Unfortunately, gene expression profiling analysis failed due to the low number of cells. PET scan found multiple uptakes in femoral, vertebral costal and sternal bones. So, this boy presented a multiple myeloma with stage IIIA according to Durie Salmon staging and ISS (International staging system) I. He underwent nine cycles of bortezomib (1.3 mg/m2 D1, D4, D8, D11) and dexamethazone (40mg/D, D1 to D4) to reach a complete response. A myeloablative allogenic stem cell transplantation was performed from his sister the 11th of September 2008, with a regimen based on cyclophosphamide (60mg/Kg, D1, D2) and TBI 12Gy. The immunosuppressive regimen associated methotrexate (D1, D3, D6) and cyclosporine. The graft contained 4.14 ×108 MNC/kg, 4.19 106 CD34/Kg and 6.16 107 CD3/Kg. At Day 120, a full donor chimerism was obtained, with no GVHd, but the monoclonal component reappeared. He received only a single cycle of bortezomib and dexamethazone because of severe peripheral neuropathy and gastro-intestinal intolerance. A second CR has been obtained in June 2009. Minimal residual disease by flow cytometry will be soon performed in order to discuss donor lymphocyte infusions. We report a case of MM during the childhood that is extremely rare. Very few cases have been reported in the literature. In this particular case, the patient has been also treated for a JMML that may have a relationship with the MM. Unfortunately, no cytogenetic or DNA profiling has been performed. To our knowledge, it is the first time that such feature is reported. The overall survival (OS) reported by the Mayo clinic in a series of 10 children was 87 months that may suggests a better OS as compared to adults (Blade J, Kyle RA, Greipp PR. Multiple myeloma in patients younger than 30 years - Report of 10 cases and review of the literature. Arch Intern Med. 1996;156:1463-8). Disclosures No relevant conflicts of interest to declare.

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40

Chasnyk, Vyacheslav G., Ekaterina V. Gaidar, Anatolii Viktorovich Kononov, Tatyana Ammosova, Alla Hynes, Margarita F. Dubko, Mikhail M. Kostik et al. "Proteomic Profile of Tears for the Diagnosis of Uveitis Associated with Juvenile Idiopathic Arthritis: Setting Targets to Achieve Results". Pediatrician (St. Petersburg) 8, n.º 1 (15 de marzo de 2017): 5–26. http://dx.doi.org/10.17816/ped815-26.

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The paper presents epidemiologic and pathophysiological aspects of the problem statement for early recognition of Uveitis (Uv) associated with Juvenile Idiopathic Arthritis (JIA) in terms of the proteomic profile of tears as well as the results of an attempt to solve this problem by means of the Tandem Mass-Spectrometry (TMS). The solution of this problem is of the highest relevance due to revolutionary changes in treatment strategies after introducing highly effective biologics. Content analysis of literature reviews reveals the following: 1. the incidence of JIA-Uv in the Northwest Federal District of Russian Federation averages 0.5-0.7 per 100 000 of children with the prevalence being ten-fold higher than incidence, 2. without Methotrexate treatment 4-7 years after the diagnosis of JIA-Uv cataract is revealed in 35-40% of children and in 5% – glaucoma as well, 3. even with Methotrexate in 28-40% of children the complications of JIA-Uv inevitably will be revealed with blurred vision in 10-36% of children, 4. timely diagnosis of JIA-Uv and adequate treatment reduce the risk of complications by 4% per year, 5. current medical care system reveals in one third of children already the complications of JIA-Uv. Revelation in tears of the motif mode for protein interaction network, triggering mobilization/inhibition of cells which moderate Uv would contradict the traditional point of view on existing natural anatomic and physiologic barriers, isolating the intraocular space, but however seems to be possible since JIA is a systemic disease and Uv leads to damage of the blood-retinal barriers. To reveal protein biomarkers of JIA-Uv tears of 31 children aged 2-17 years were studied: 17 – chronic JIA-Uv, 4 – JIA without Uv, 4 – idiopathic Uv, 3 – systemic vasculitis, 3 – healthy children. We used the current clinical guidelines and standards to diagnose the pathology and TMS with hierarchical clustering methodology for protein identification: nano C18 column attached to Shimadzu nano LC coupled in-line to LTQ Orbitrap XL tandem mass spectrometer, data-dependent 4-event scan method, a survey FT-MS parent scan followed by sequential data dependent FT-MS/MS scans on the three most abundant peptide ions. Proteins were identified from the mass spectra results with Proteome Discoverer 1.2 software for protein database search using the International Protein Index (IPI) and Human Protein Database. Quantification was conducted using SIEVE 2.0 after normalization to albumin keeping in mind the validity of proportional change of its concentration after stimulation of lacri-mation. Data from SIEVE were exported to IPA (Ingenuity Pathway Analysis) for filtering. The extracellular proteins selected in Ingenuity were further analyzed for disease relation and networks formation. TMS revealed more than 3000 proteins in tears and 300 of them have been considered to be the first row candidates to be biomarkers of JIA-Uv. The top two proteins, lactoferrin and lipocalin were upregulated over ten-fold in children with Uv. Pathway analysis placed these proteins into the inflammation-related IL-1 and TNF-α related networks which also included proteins involved in the development of endothelial dysfunction, inflammation and retinopathy. In addition, IL-23, which was previously linked to Uveitis, was found to be upregulated. Taken together, our proof-of-principle study presents a novel and yet untested approach for detection of early biomarkers of Uveitis and identified several candidate proteins.

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41

Morantz, Robert A. "Radiation Therapy in the Treatment of Cerebral Astrocytoma". Neurosurgery 20, n.º 6 (1 de junio de 1987): 975–82. http://dx.doi.org/10.1227/00006123-198706000-00028.

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Abstract With the advent of more sensitive diagnostic techniques, we are encountering an increasing number of young patients harboring cerebral astrocytoma. The great danger in such patients is that the astrocytoma cells will undergo dedifferentiation to a higher state of malignancy. An essential question is whether the use of postoperative adjuvant radiation therapy can decrease the incidence of this event. Because a prospective, randomized study has never been carried out, it is extremely difficult to ascertain whether radiation therapy should be given to these patients. This article reviews the main retrospective clinical studies in an attempt to determine whether the addition of radiation therapy increases the length or quality of survival in patients with astrocytoma. Based on this literature review, the following tentative conclusions have been reached: (a) All reported studies are inconclusive; therefore, dogmatic statements as to whether radiation therapy should be used are not warranted. (b) One should try to obtain pathological confirmation of the precise nature of all tumor-like cerebral lesions that have been detected on neuroradiological studies. (c) Consistent with sound neurosurgical judgment, every attempt should be made to carry out a gross total removal of the hemispheric astrocytoma. (d) In the case of such a gross total surgical removal and even in its absence in the case of a juvenile pilocytic astrocytoma, radiation therapy may be withheld and the patient carefully followed for tumor recurrence. (e) In those cases where total removal cannot be accomplished, postoperative radiation therapy seems warranted. (f) Such radiation therapy should be given in a conventional fractionated schedule to a maximum of 5500 rads. The radiation therapy should not be given to the whole brain, but rather to the tumor plus a limited surrounding margin as determined by computed tomography/magnetic resonance imaging. Such a treatment regimen may reasonably be expected to lead to a 5-year survival rate of approximately 40%.

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42

KURAKBAYEV, Ye, B. TURDALIYEVA, L. MANZHUOVA y V. SCHUKIN. "RISK FACTORS AND EARLY SIGNS OF CRITICAL CONDITIONS IN CHILDREN WITH ACUTE LYMPHOBLASTIC LEUKEMIA ADMITTED TO THE INTENSIVE CARE UNIT". Oncologia i radiologia Kazakhstana 69, n.º 3 (30 de septiembre de 2023): 38–46. http://dx.doi.org/10.52532/2521-6414-2023-3-69-38-46.

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Relevance: Acute lymphoblastic leukemia (ALL) is the most common cancer among children, accounting for nearly a quarter of all childhood cancers. The study aimed to determine the risk factors and signs of critical conditions in children with acute lymphoblastic leukemia admitted to an intensive care unit (ICU). Methods: The approach used was a systematic review. Data was collected from sources published in 2019-2023. Four cohort studies, four retrospective analyses, two literature reviews, one case-control study, and one case study were included in this systematic review. Results: The prognosis in pediatric ALL depends on the initial number of blast cells in the peripheral blood. Patients with B-cell precursor acute lymphoblastic leukemia (BCP ALL) and low blast cell numbers survived better than patients with T-cell acute lymphoblastic leukemia (T-ALL) and low cell count. IL1B and NLRP1 genetic polymorphisms enhanced ALL risk and reduced infectious comorbidity. However, these gene polymorphisms must be confirmed in juvenile leukemia. KRAS, FLT3, NRAS, PTPN11, KMT2D, PTEN, and NOTCH1 gene mutations affected pediatric ALL patient features and treatment results. These mutations demonstrate the relevance of genetic profiling in risk classification and tailored management. Gene variations and availability of effective medication contributed. Pediatric BCP-ALL patients with the PAX5P80R mutation had worse 5-year overall survival, higher white blood cell counts, male preponderance, and more genetic abnormalities. Pediatric BCP-ALL focused on genetic analysis and risk stratification. Children of African American and European American ancestry showed varied incidence, recurrence, and outcome rates for ALL. African American children exhibited lower incidence but greater recurrence rates and poorer prognosis than European American children. Conclusion: Risk factors for these patients’ admission to ICU include comorbidities, infectious diseases, hypoxia, and hemodynamic instability, as well as age and baseline white blood cell count at diagnosis.

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43

Bhattacharya, Dipabarna, Jason Theodoropoulos, Katariina Nurmi, Timo Juutilainen, Kari K. Eklund, Riitta Koivuniemi, Tiina Kelkka, Satu Mustjoki y Tapio Lönnberg. "Clonal Trafficking of Individual T Cells between Peripheral Blood and Inflamed Synovial Tissue in Patients with Immune-Mediated Refractory Arthritis". Blood 142, Supplement 1 (28 de noviembre de 2023): 1178. http://dx.doi.org/10.1182/blood-2023-181206.

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Background Rheumatoid arthritis (RA) is the most prevalent form of immune mediated arthritis, which is characterised by immune-mediated destruction of synovial joints, leading to synovitis, acute joint pain, reduced motility, and mortality. Enrichment of CD4+ memory T cell subsets with local clonal expansions in the RA synovial tissue (ST) has been extensively reported in the literature. In addition, emerging evidence suggests that CD8+ T cells with inflammatory phenotypes are also present in increased numbers in the ST. However, little is known about whether these populations represent autoantigen-experienced migratory T cells or locally proliferated populations. Here, with the help of paired single cell T cell receptor (scTCR) and RNA sequencing recognizing individual T cell clones, we aimed to gain insights into the trafficking of T cells between peripheral blood (PB) and inflamed target tissue. Methods We collected ST and PB samples from patients with immune mediated arthritis during surgical synovectomy. The patients had been diagnosed with seronegative juvenile arthritis (Pt1-JIA), seropositive RA (Pt2-SP) and seronegative RA (Pt3-SN), and at the time of sampling they were refractory to treatment. We flow sorted T cells and CD45+ leukocytes from ST and PB and profiled them with 10x Genomics 5´-scRNA+V(D)J-seq. Altogether, we captured 68,610 cells passing quality control thresholds. We integrated the data from all individual samples using scVI and visualised the subpopulation structure using UMAP dimensionality reduction as implemented in the Seurat package. Results Altogether we analysed 34134 CD4+ T cells and 23385 CD8+ T cells from PB and ST. In concordance with previous reports, we observed strong transcriptomic differences between the tissue of origin for both CD4+ and CD8+ T cells. We pooled all CD4+ and CD8+ T cells separately and further grouped all cells with identical CDR3b aa sequences into unique clones. In CD8+ T cells, a high number of clones (n=101, pertaining to 7409 cells) was shared between PB and ST. 8 of these clones were enriched to the ST as compared to PB. Interestingly, Pt2-SP harboured a large clone in the ST consisting of 27% of the CD8+ T cells (CDR3b sequence - CASRGGTSITDTQYF). This clone was also detected in PB with a much smaller frequency of only 2% and in a phenotypically different cluster, indicating local proliferation of specific T cell clones in the synovium. By performing a DE gene analysis between cells with the same TCR but between different tissues of origin, we found that the top upregulated genes in ST were CCL4 and CREM suggesting more activated and inflamed phenotype in ST. In the CD4+ compartment, we found only 12 intersecting TCR clones pertaining to 637 cells. Majority of these clones were coming from PB (458 cells from PB and 179 from ST) and were hyperexpanded in PB as compared to ST. No matches for common viral or bacterial epitopes in the existing VDJ database for any of the intersecting clones was found. We then pooled all T cell clones that were enriched in the ST and found 113 clones (p < 0.05, Fisher's exact test). DE gene analysis showed that ST enriched clones have a more activated profile. Pathway enrichment analysis with hypergeometric testing against the GO Biological Process database identified T cell activation and positive regulation of cell adhesion as the top hits. Using GLIPH2, we used publicly available data from a cohort of JIA patients to check TCR level similarity between the two cohorts. We found common motifs between these two cohorts in some of the hyperexpanded clones from PB and ST, and interestingly, TCRs which were predicted to target similar antigens, were enriched to both expanded and intersecting clones. By performing DE gene analysis, we found that predicted TCRs with similarity were more cytotoxic ( GZMH, GNLY, NKG7, GZMB, GZMA) and they overexpressed the TRBV7-6 gene. Conclusions Our results suggest that the cytokine signalling environment in the ST leads to a widespread activation and inflammatory signature within the T cell compartment. This shift in the phenotype occurs within clonal families and is not due to the selective recruitment of activated cells to inflamed tissue. Additional investigations may elucidate the cellular interactions that promote expansion of specific disease promoting clones in ST and provide a more detailed understanding of the spatiotemporal aspects of this process.

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Kairov, A. I. y V. V. Kozin. "Expression of the engrailed Homologue in Larvae and Juveniles of the Annelid Alitta virens Characterizes the Formation of Segments from the Growth Zone". Онтогенез 54, n.º 3 (1 de mayo de 2023): 196–204. http://dx.doi.org/10.31857/s0475145023030035.

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The evolutionary origin of segmentation remains to be a mystery. In arthropods, the engrailed gene is recognized as one of the most important and conservative members of the segmentation developmental program. Orthologues of this gene have been identified in annelids, but their role is interpreted ambiguously, because in some species their expression precedes subdivision of the body into segments, but in others it does not. Here we studied the expression of engrailed in the nereid polychaete Alitta virens during metamorphosis and development of the first postlarval segments. Our data support the possible involvement of this gene in the process of segment formation from the growth zone in A. virens. At the larval stages, engrailed is expressed in neuroectodermal cells, in the growth zone, as well as in metameric epidermal cell rows at the anterior boundary of each segment. Upon transition from the metatrochophore to the nectochaete stage, the circular expression domain in the growth zone expands and then resolves into two serial domains. Over time, the distance between these circular domains increases indicating the growth of the first postlarval segment anlage. Formation of subsequent postlarval segments occurs in a similar way. Analyzing our results and literature data, we compared engrailed expression patterns in annelids and arthropods. Our work indicates an absence of conservation in patterning of sequentially developing segments from the growth zone in protostomes. We suggest that in A. virens the anteroposterior axis elongation occurs simultaneously with the specification of a new segment. These features differ from the known models of the growth zone and indicate the possibility that nereids have a specific mechanism of segmentation.

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45

Seybold, Steven J., Jörg Bohlmann y Kenneth F. Raffa. "BIOSYNTHESIS OF CONIFEROPHAGOUS BARK BEETLE PHEROMONES AND CONIFER ISOPRENOIDS: EVOLUTIONARY PERSPECTIVE AND SYNTHESIS". Canadian Entomologist 132, n.º 6 (diciembre de 2000): 697–753. http://dx.doi.org/10.4039/ent132697-6.

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AbstractIn this overview we compare the significance and evolutionary history of two interacting biological systems, the conifer-feeding bark beetles (Coleoptera: Scolytidae) and their host conifers (Gymnospermae: Coniferales and Taxales). Isoprenoid natural products play key roles in the aggregation of the bark beetles and in the defence of the conifers. Our approach is to couple the most recent advances in the biochemical and molecular literature on these systems with ecological and behavioral data to compare monoterpenoid pheromone biosynthesis in scolytids with monoterpene biosynthesis in conifers. This synthesis reveals and evaluates the evolutionary redundancy occurring in the biochemical systems of the insect and host. Although host monoterpenes may be utilized directly or as derivatives in aggregation by scolytids, oxygenated monoterpenes that are behaviorally active for scolytids have been rarely identified from their coniferous hosts. De novo monoterpenoid biosynthesis in the Scolytidae, a process that is likely to be rare among metazoans, is substantially different from monoterpene biosynthesis in the conifers. The pathways appear to be shared only at the late-stage reactions that follow the formation of isopentenyl diphosphate. Little is known of the regulation of monoterpene biosynthesis in conifers, but scolytids positively regulate monoterpenoid biosynthesis using a sesquiterpenoid hormone, juvenile hormone, which does not occur in conifers. Little is known of the subcellular site of synthesis of monoterpenoids in scolytids, but conifer monoterpene biosynthesis is compartmentalized in the plastids, which do not occur in scolytid cells. In addition to bark beetles and conifers, the vertebrate model presents one of the few systems in which isoprenoid synthesis has been studied enough to provide a meaningful comparison. Possible unique features of monoterpenoid pheromone biosynthesis in scolytids relative to isoprenoid biosynthesis in vertebrates include the following: (1) a monoterpenoid end product; (2) a hypothetically scolytid-specific prenyl transferase (= geranyl diphosphate synthase) that catalyzes the condensation of two five-carbon (C5) units, but does not catalyze additional condensation reactions with the C5 monomelic unit; (3) a scolytid-specific monoterpene (myrcene) synthase; and (4) a scolytid-specific, transcriptional-level sesquiterpenoid isoprenoid regulatory mechanism. Features 2 and 3 may be shared with conifers. This review also updates the 1985 landmark scientific paper by John Borden by listing the references and species of coniferophagous Scolytidae for which aggregation pheromones have been identified since 1985.

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Patil, Sachin Rangrao, Ajinkya Balasaheb Chavan, Ansar Mansur Patel, Pranjal Dhondiba Chavan y Jyoti Vilas Bhopale. "A Review on Diabetes Mellitus its Types, Pathophysiology, Epidermiology and its Global Burden". Journal for Research in Applied Sciences and Biotechnology 2, n.º 4 (14 de agosto de 2023): 73–79. http://dx.doi.org/10.55544/jrasb.2.4.9.

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The spread of obesity and unhealthy lifestyles has contributed to a significant and increasing disease burden associated with diabetes in all countries worldwide. According to recent estimates, the worldwide prevalence of diabetes in 2013 was recorded at 382 million individuals, with projections indicating a significant increase to 592 million by the year 2035. The categorization of diabetes based on its aetiology has gained widespread acceptance in the scientific community. There are two primary classifications of diabetes, namely type 1 and type 2. Type 2 diabetes is the predominant kind, constituting a majority proportion (>85%) of the overall prevalence of diabetes. Both types of diabetes have the potential to result in a range of problems affecting several bodily systems. These complications can manifest as microvascular endpoints such as retinopathy, nephropathy, and neuropathy, as well as macrovascular endpoints including ischemic heart disease, stroke, and peripheral vascular disease. Diabetes is a significant public health concern because to its association with premature morbidity, death, diminished life expectancy, and substantial financial and societal burdens. Diabetes mellitus is a chronic metabolic illness characterised by heterogeneity and a complex pathophysiology. The condition is distinguished by increased amounts of glucose in the bloodstream, known as hyperglycemia, which arises from irregularities in either the production of insulin or the effectiveness of insulin, or both. Traditionally, diabetes has been classified into three distinct types: Type 1 DM, also known as insulin-dependent diabetes mellitus (IDDM), characterised by the body's inability to make insulin, necessitating the administration of insulin by injections or the use of an insulin pump. This condition is commonly referred to as "juvenile diabetes" in medical literature. Type 2 diabetes mellitus, also known as non-insulin dependent diabetes mellitus (NIDDM), arises due to the presence of insulin resistance. This condition occurs when cells are unable to effectively utilise insulin, either with or without a complete absence of insulin. This particular classification was once denoted as "adult-onset diabetes". The third primary category is gestational diabetes, which manifests when women who do not have a prior medical history of diabetes experience elevated levels of blood glucose throughout their pregnancy. It is plausible that it may occur prior to the onset of type 2 diabetes mellitus. This article explores the various forms, pathophysiology, epidemiology, and global burden associated with the topic under discussion.

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Aleem, Zahra, Bakht Aziz, M. Atiq U. Rehman, M. Umair Wahab, Irshad Malik, Kashif Iqbal Malik, Hasnain Haider y Maryam Umar. "Comparison of External Carotid Ligation and Pre Operative Embolization of Feeding Vessel for Controlling Per Operative Heamorrhage in Angiofibroma Excision". Pakistan Journal of Medical and Health Sciences 16, n.º 7 (30 de julio de 2022): 74–76. http://dx.doi.org/10.53350/pjmhs2216774.

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Background: The prevalence of Angiofibroma of juvenile variety is infrequent tumor of nasopharynx7. It grows aggressively and is locally destructive and extends into the cranium as well. Its symptoms usually involve nasal obstruction with or without nasal bleed. Histopathology shows spindle cells scattered between collagen fibers and vascular tissue. MRI and CT angiogram are the two most important investigations used in its diagnosis. Many methods have been used for its excision since ancient times and many researches have been done to control per operative bleeding as it is a vascular tumor. Aim: This study was performed to compare two methods i.e., 1. Carotid artery ligation per operatively and 2. Embolization of the feeding artery pre operatively in order to assess which method is better in controlling per operative bleeding during its excision. Design: Comparative Setting & duration: Department of Otorhinolaryngology, Jinnah Hospital, Lahore from 01st January 2020 to 31st January 2022. Methodology: A group 20 patients were taken having angiofibroma. 10 patients went for pre operative embolization of the feeding vessel of the angiofibroma after localizing the vessel by having MRA. The other 10 patients had their external carotid artery ligated before excising the angiofibroma. The bleeding which occurred during both procedures was quantified by weighing the gauze pieces soaked per operatively , the blood collected in suction bottle and then comparing the values. Results: The 10 patients who had embolization had far more bleeding during excision as compared to the 10 patients who had their external carotid artery ligated per operatively before excision. Conclusion: Results showed that pre operative embolization is not a better procedure to control per op bleeding as compared to external carotid artery ligation during angiofibroma excision. Keywords: Embolization , angiofibroma , per operative ,

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Williams, Emma. "P03 Leflunomide treatment for inflammatory bowel disease and intestinal failure caused by TTC7A deficiency". Archives of Disease in Childhood 108, n.º 5 (19 de abril de 2023): 2.1–2. http://dx.doi.org/10.1136/archdischild-2023-nppg.3.

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TTC7A deficiencyUltra-rare autosomal-recessive variants in tetratricopeptide repeat domain 7A gene (TTC7A) have been discovered in patients presenting with severe intestinal disease. Mutations in the TTC7A gene cause intestinal epithelial and immune defects resulting in apoptotic enterocolitis, multiple intestinal atresia, and recurrent intestinal stenosis. Patients face high mortality rates with palliation as the current standard of care.1LeflunomideIn 2020 a high throughput screen identified drugs that increased cell viability in patients with TTC7A; leflunomide reduced caspase 3 and 7 (responsible for cell death) activity in cells by 96%. In zebrafish with disruption of TTC7A, leflunomide restored gut motility, reduced intestinal tract narrowing, and increased intestinal cell survival.1From a literature review, only 3 patients in the world have been prescribed leflunomide for TTC7A deficiency with ‘encouraging results’.2however no case reports have been completed on treatment safety or effectiveness.A common adverse effect of leflunomide is liver toxicity due to production of a toxic intermediate; however, the reaction appears to be idiosyncratic and unpredictable.3Full blood count and liver function tests must be checked before initiation of leflunomide, every two weeks during the first six months of treatment, and every 8 weeks thereafter.4The patientA 7-year-old male on home parenteral nutrition with TTC7A deficiency was admitted to hospital with high ileostomy output and persistent vomiting with a background of mucosal gastrointestinal inflammation and pyloric stenosis. On behalf of the gastroenterology team, the paediatric gastroenterology pharmacist applied for urgent internal funding and clinical governance approval for leflunomide treatment with the aim to ameliorate intestinal disease. Leflunomide 10 mg daily costs £3.11/month. Treatment was approved, the patient and his family were counselled by the pharmacist and the patient began treatment of leflunomide 10 mg via PEG tube daily.Adverse eventAfter two weeks of treatment the patient’s alkaline phosphate (ALP) and Gamma GT (GGT) had doubled and their alanine transaminase (ALT) had increased 10-fold. Advice from the pharmacist was sought. On review of the leflunomide summary of product characteristics4: ‘Rare cases of severe liver injury, including cases with fatal outcome, have been reported during treatment with leflunomide//If ALT elevations of more than 3-fold the upper limit of normal are present, leflunomide must be discontinued and wash-out procedures initiated.’ A decision was made to stop treatment, however a washout procedure with cholestyramine or activated charcoal was not possible as the patient had minimal oral intake due to vomiting. The pharmacist filed a yellow card report.Follow upThe patient’s ALT normalised after 3 weeks and GGT after 2 months of treatment cessation. It took 8 months for the patient’s ALP to normalise.Lessons learntUnfortunately, it was impossible to assess the potential gastrointestinal benefits of leflunomide in this patient due to the rapid onset of significant liver toxicity. Liver toxicity may have been identified sooner if a blood test was taken 1 week after treatment initiation. Monitoring liver function earlier following initiation of leflunomide treatment may be helpful to minimise liver toxicity in patients with TTC7A deficiency.ReferencesJardine S, Anderson S, Babcock S,et al. Drug screen identifies leflunomide for treatment of inflammatory bowel disease caused by TTC7A deficiency.Gastroenterology2020;158:1000–1015.Cerretani J. Going ‘all in’ for Khori: new hope for congenital enteropathy [Internet]. Boston Children’s Hospital, 2020. [accessed May 2022]. Available from: https://answers.childrenshospital.org/khori-congenital-enteropathy/Nuray Aktay A, Gul Karadag S, Cakmak F,et al. Leflunomide in juvenile rheumatoid arthritis.Future Rheumatol2006;1(6):673–682.Electronic Medicines Compendium [Internet]. Leflunomide 10 mg film-coated tablets, 2017 [cited May 2022]. Available from: https://www.medicines.org.uk/emc/product/5395/smpc

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Brassington, Rebecca, Svetlana Silverman y Ioana Bratu. "Abstract PO4-25-08: Secretory breast carcinoma (SBC) in an 8-year-old male: Report of an exceptionally rare case with review of clinicoradiologic and pathomolecular findings of SBC in the male pediatric population". Cancer Research 84, n.º 9_Supplement (2 de mayo de 2024): PO4–25–08—PO4–25–08. http://dx.doi.org/10.1158/1538-7445.sabcs23-po4-25-08.

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Abstract Secretory breast carcinoma (SBC) is a rare and distinct disease, comprising approximately 0.01% of all breast carcinomas. This is a case of an 8-year-old boy who presented with a 1.5-year history of a non-tender, slowly enlarging left subareolar mass, not associated with nipple discharge. Serologic workup revealed minimally elevated prolactin with normal-range FSH, LH, estradiol and testosterone, as well as normal-range beta-hCG, LDH and AFP. Ultrasound showed a circumscribed solid hypoechoic lesion with internal arterial vascularity, favoured to represent a sebaceous cyst. Excisional biopsy was performed, and histologic examination revealed the classic intra- and extracellular secretory material typically seen in SBC. Immunohistochemical (IHC) stains for mammaglobin, S-100 and high molecular weight keratin (CK5) were positive. ER was positive, though not strong staining, and PR and HER2 were negative. A screen for NTRK fusions with pan-TRK IHC was positive. No skin, perineural or lymphovascular invasion was identified. RNA-based NGS demonstrated ETV6-NTRK3 fusion and confirmed the diagnosis of SBC. The patient underwent mastectomy and SLNB, which showed no residual tumor and no positive lymph nodes. A full metastatic work-up was not performed and the patient did not receive neoadjuvant therapy. First described as “juvenile breast carcinoma,” SBC has since been recognized to occur across a wide age range, with most cases occurring in adults. SBC in male pediatric patients is exceptionally rare, with fewer than 20 cases reported in the literature. In this demographic, SBC is usually detected clinically as a subareolar mass not associated with nipple discharge, and appears as a well-circumscribed mass on imaging, mimicking benign entities. SBC is usually detected at a low stage, treated surgically, and follows a clinically indolent course with excellent outcomes. Positive axillary nodes have been identified in a few male children, who subsequently underwent chemo- and/or radiotherapy, with no recorded recurrences in these cases. Distant metastases are an extremely uncommon feature of SBC and have not been reported in the pediatric male population; however, due to the rarity of this diagnosis, particularly in this demographic, robust long-term follow-up data are still lacking. The name “secretory” derives from the histologic appearance of the dense eosinophilic secretory material seen in tumor lumina and bubbly material in the cytoplasm of tumor cells. Similar to the cytologic characteristics of other translocation-driven neoplasms, SBC shows minimal pleomorphism. Mitoses are absent or rare. IHC stains are typically positive for S-100 and high molecular weight keratins and negative for ER, PR, and HER2. Despite the immunophenotypic similarities to triple negative/basal-like carcinomas (TNBC/BLC) the molecular relationship between SBC and TNBC/BLC is unclear. Though initially defined by its distinctive secretions on histology, SBC is now chiefly characterized by a balanced translocation, t(12;15)(p13;q25), resulting in oncogenic ETV6-NTRK3 fusion. Recent cases have demonstrated this using a variety of molecular techniques, including FISH, RT-PCR, and in our case, RNA-based NGS. This translocation also characterizes non-breast secretory carcinomas and has been identified in several other neoplasms, including pediatric mesenchymal tumours and adult acute myeloid leukemia. The rarity of SBC, particularly in the male pediatric population, underlines the necessity of this case report. Additionally, this case highlights the importance of considering SBC as a potential diagnosis in male children presenting with a breast mass, even in the presence of benign imaging characteristics. Table 1: Clinicoradiologic and pathomolecular characteristics of SBC in pediatric males AND, axillary node dissection; CT, chemotherapy; ER, estrogen receptor; FISH, fluorescence in situ hybridization; LE, local excision; MRM, modified radical mastectomy; nd, no data; NED, no evidence of disease; NGS, next-generation sequencing; NS, nodal sampling; PA, periareolar; PR, progesterone receptor; RA, retroareolar; RM, radical mastectomy; PCR, polymerase chain reaction; RT, radiotherapy; SA, subareolar; SLNB, sentinel lymph node biopsy; SM, simple mastectomy; WLE, wide local excision *Not reported as strong staining Table 2: Immunohistochemical phenotype of secretory breast carcinoma EMA, epithelial membrane antigen; ER, estrogen receptor; PR, progesterone receptor *Not reported as strong staining Table 3: Laboratory investigations AFP, alpha fetoprotein; FSH, follicle stimulating hormone; hCG, human chorionic gonadotropin; LDH, lactate dehydrogenase; LH, luteinizing hormone Citation Format: Rebecca Brassington, Svetlana Silverman, Ioana Bratu. Secretory breast carcinoma (SBC) in an 8-year-old male: Report of an exceptionally rare case with review of clinicoradiologic and pathomolecular findings of SBC in the male pediatric population [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO4-25-08.

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González, Juan Pablo. "Editorial". Contrapulso - Revista latinoamericana de estudios en música popular 4, n.º 1 (26 de enero de 2022): 1–3. http://dx.doi.org/10.53689/cp.v4i1.152.

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Los números de comienzo de año de Contrapulso son de temática libre dentro del amplio campo multidisciplinario de los estudios en música popular en América Latina que nos convoca. Los de mediados de año, en cambio, están orientados hacia temáticas específicas dentro de este campo, como han sido los dedicados a “Música y sexualidad” (2019), “Música y política” (2020), “Voces y vocalidades” (2021), y “Música, sentimientos y afectos”, dosier convocado para el próximo número (2022) https://contrapulso.uahurtado.cl/index.php/cp/announcement En algunos casos, un dosier puede irradiar su temática hacia el número siguiente, como ocurre en este de temática libre, pero con tres artículos provenientes de la llamada al dosier del número anterior –“Voces y vocalidades”–. Incluso en la editorial pasada anunciamos que publicaríamos una segunda parte del dosier con esta entrega, pero finalmente hemos preferido no hacerlo y así mantener el ritmo de la revista señalado al comienzo. Nos disculpamos por ello, aunque el origen de esos tres artículos, transforman este ejemplar en un número híbrido. El primero de los textos irradiados, de Dulce María Dalbosco, aborda comparativamente las figuras de Amália Rodrigues y de Carlos Gardel, buscando convergencias entre el fado y el tango en las ciudades puerto de Lisboa y Buenos Aires, junto al desarrollo de las nuevas tecnologías del disco y del cine. A partir de su canto y de su agencia, ambos artistas se proyectaron como referentes culturales y sociales, se convirtieron en figuras transmediales, modelaron subjetividades y devinieron en agentes culturales íconos internacionales de los géneros musicales que representan. Amália y Gardel son también testimonio de la manera en que el cuerpo del artista se convierte en receptáculo donde se cruzan, se contradicen o se potencian las distintas voces articuladas por ellos: la de sus canciones, sus personajes, sus papeles cinematográficos, y sus discursos. El segundo artículo vinculado al dosier del número anterior, de Maria Pilar Jarpa, aborda la obra del escritor, artista y activista chileno de género Pedro Lemebel, que toma la voz de la cantante mexicana Paquita la del Barrio para trasvestir su propia voz, produciendo una diversidad de alianzas con “lo femenino” que dan cuenta de un devenir irreverente de mujer respecto a las categorías dominantes. En las crónicas y programas de radio de Lemebel, vemos como la canción sentimental y de despecho se transforma en dispositivo de subversión del imaginario heteronormativo y también revolucionario latinoamericano. En el tercer artículo de la revista, de temática libre, María de los Ángeles Montes, aborda el paradigma tradicional del cuarteto cordobés tal como se manifestó hasta finales la década del setenta antes de la propuesta disruptiva de la banda Chébere y de La Mona Jiménez. Para ello la autora revisa un cuerpo considerable de canciones, abordando sus aspectos sonoros, lingüísticos y narrativos en su sentido amplio, enfatizando los valores dominantes de matrimonio, familia y trabajo y sus transgresiones en el espacio festivo del cuarteto, a través del humor y la picaresca. Es en esa suspensión momentánea de la seriedad de la vida cotidiana que impone la fiesta, donde el cuarteto tradicional anima a la relajación de las normas morales imperantes, como la fidelidad masculina, el ascetismo, y el decoro en la mujer. A partir del cuarto artículo incluimos estudios sobre música popular abordados desde la música y la musicología, a diferencia de los tres primeros, escritos desde la literatura, los estudios de género y la semiótica, que enriquecen la diversidad de enfoques de este campo de estudios. Es así como Roberto Serafini, se enfoca en el primera arreglo de Astor Piazzolla para la orquesta de Aníbal Troilo: la milonga-candombe “Azabache” que, a pesar de tener buena recepción del público y de la industria de la época, Troilo nunca llevó al disco. En su artículo, Serafini aborda las posibles razones de esta omisión en el contexto de los años cuarenta en Buenos Aires. Lo hace, a partir de un minucioso estudio de la obra, transcribiendo el manuscrito inédito, relevando la bibliografía, analizando comparativamente distintos arreglos de la época y produciendo un video con su montaje. Por su parte, Nilda Godoy, ofrece un análisis intermedial de la interpretación de Mercedes Sosa para canciones sobre la poesía de Armando Tejada Gómez, enfocándose en la voz como portadora de palabra y música. La autora identifica recursos expresivos en relación al fraseo, el tratamiento dinámico, las acentuaciones, las prolongaciones de sonido, y las decisiones de tempo y altura sobre las letras de las canciones, en un minucioso estudio de vocalidad que completa los tres artículos irradiados del número pasado de Contrapulso al actual. El sexto artículo, de Tomás Mariani, se centra en el disco El incendio del poniente (1984) del cantante argentino de folklore, Jacinto Piedra, publicado en el marco de la llamada primavera democrática argentina, buscando su relación con las culturas juveniles de los ochenta. Para ello, el autor considera lo visual, lo literario y lo sonoro-musical del disco y la red de relaciones que conforma, que se articulan con un discurso en el que folklore y juventud pueden formar parte de una misma construcción de identidad, compartiendo además espacios con el rock. El último artículo, de Víctor Navarro, aborda una canción del poeta-rockero chileno Mauricio Redolés que ofrece una crónica de la lucha de los estudiantes secundarios contra la dictadura militar en la década de los ochenta. La canción es abordada desde la historia cultural y los postulados sobre música y profecía de Jacques Attali, intentando descifrar la microhistoria que subyace en la letra, la clase subalterna que se describe, y sus posibilidades de diálogo con el Chile actual, ofreciendo un interesante análisis de la estructura cultural de la canción. Este número culmina con tres reseñas críticas de libros de reciente aparición. La primera, de Andrés Celis, aborda un extenso estudio colectivo sobre el heavy-metal en América Latina. La segunda, de Sebastián Carrillo, está referida a un no menos extenso recuento de 200 discos de rock chileno. La tercera, de Tomás G. Márques, nos informa de una autoedición sobre la práctica del hip-hop femenino en Chile. Junto con agradecer a lo/as autore/as que han depositado su confianza en Contrapulso, enviándonos sus manuscritos según las normas de la revista y luego haciendo correcciones y modificaciones según lo hemos ido solicitando, queremos reconocer muy especialmente a quienes han realizado los acuciosos referatos ciegos del material recibido, contribuyendo a mantener el buen nivel de la revista y sirviendo como instancia de perfeccionamiento para los propios autores. Estos fueron Ana Belén Disandro, Angélica Adorni, Ariel Durán, Christina Baker, Claudia Rolando, Daniel Domingo Gómez, Daniel Party, Federico Eisner, Héctor Rojas, Heloísa Valente, Joshua Katz, Juan Sebastián Rojas, Juliana Pérez, Lucio Carnicer, Marina Cañardo, Pablo Toro, Rodrigo Arrey, Simón Palominos y Tania Costa. El contenido de Contrapulso 4/1 (1/2022) es el siguiente: Dulce María Dalbosco. “De la voz al símbolo: Amália y Gardel como estrellas de la canción portuaria” María del Pilar Jarpa. “Devenir rabiosa: Lemebel, Paquita la del Barrio y ‘el lenguaje de la ira’”María de los Ángeles Montes. “El paradigma tradicional del cuarteto cordobés. Sonidos, palabras y relatos” Andrés Serafini. “Misterioso ‘Azabache’: contextualización y análisis del primer arreglo de Astor Piazzolla para la orquesta de Aníbal Troilo” Nilda Godoy. “La voz de Mercedes Sosa cantando la poesía de Armando Tejada Gómez. Un análisis de la interpretación como aporte al estudio del canto” Tomás Mariani. “El incendio del poniente (1984) en la primavera democrática argentina: folklore y juventud en el disco solista de Jacinto Piedra” Víctor Navarro. “‘Química’, de Mauricio Redolés: una crónica del movimiento estudiantil en la dictadura militar chilena” Reseñas Andrés Celis: Nelson Varas-Díaz, Daniel Nevárez Araújo y Eliut Rivera-Segarra eds. 2021. Heavy Metal Music in Latin America: Perspectives from the Distorted South. Lanham, Maryland: Lexiton Books. Sebastián Carrillo: Gabriel Chacón, Felipe Godoy, Cristofer Rodríguez y César Tudela. 2020. 200 discos de rock chileno. Una historia del vinilo al streaming. Santiago: Ocho libros. Tomás G. Marqués: Paulina Briceño (A.K.A Brita la Matriarca). 2021. Ser Bgirl. Filosofía del Hip Hop. Santiago: Autoedición.

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