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1

Garza, Micheal, e Claire Williams. "Incarcerated youth and their siblings: A review of historical and current context, and future directions". Juvenile and Family Court Journal 75, n.º 1 (março de 2024): 45–54. http://dx.doi.org/10.1111/jfcj.12254.

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AbstractThe 2020 Juvenile Residential Facility Census reports that roughly 25,000 youth in the United States (U.S.) are incarcerated—placing the United States as the leading nation in number of juveniles in correctional facilities worldwide. This paper aims to highlight an overlooked population impacted by this issue: not the incarcerated youth themselves, but their siblings. This paper first grounds historical trends, the effects of racialized sociopolitical systems on disparate rates of incarceration, and the current state of youth incarceration, with a specific focus on impacts on families. This paper reviews the literature on how families are affected by the juvenile justice system in terms of their well‐being, education, and other outcomes—drawing from the small body of research directly on siblings and hypothesizing impacts in need of further study based on families' experiences in the criminal justice system. We present historical and current issues/limitations to understanding and addressing the impacts of youth incarceration on siblings, concluding with areas of future research needed to address the impacts that a youth's incarceration has on their siblings and family.
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Png, Doanna, Ester Yeoh, Clara Tan e Su Chi Lim. "A Pair of Siblings With Wolfram Syndrome: A Review of the Literature and Treatment Options". Journal of Investigative Medicine High Impact Case Reports 11 (janeiro de 2023): 232470962211506. http://dx.doi.org/10.1177/23247096221150631.

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Wolfram syndrome (WS) is a rare genetic disorder typically characterized by juvenile onset diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, and neurodegeneration. There would be a high index of clinical suspicion for WS when clinical manifestations of type 1 diabetes and optic atrophy present together. Genetic analysis is often required to confirm the diagnosis. We describe a pair of Chinese siblings diagnosed with WS at ages 20 and 24 years, respectively. DNA sequencing of the WFS1 gene which encodes for Wolframin ER Transmembrane Glycoprotein identified a heterozygous nonsense variant NM_006005.3: c.1999C>T p.(Gln667*) and a heterozygous missense variant c.2170C>T p.(Pro724Ser) in exon 8 of the gene for both siblings. There is no curative treatment for WS and management of this debilitating disease is aimed at treating individual clinical manifestations, slowing disease progression, and improving quality of life. Treatment with liraglutide, a glucagon-like-peptide-1 receptor agonist, and tauroursodeoxycholic acid was started for the younger sibling, the proband. There was reduction in insulin requirements and improvement in glycemic control. The other sibling was not offered liraglutide due to her complex treatment regimen for end-organ failure. Genetic testing is a valuable tool to detect WS early to allow precise and prompt diagnosis, thereby facilitating the coordinated care from a multidisciplinary team of clinicians.
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Keser, G., B. Karabulut, F. Oksel, C. Çalli, E. E. ÜstÜn, T. Akalin, H. Koçanaoğullari, G. Gümüşdi� e E. Doğanavşargil. "Two Siblings with Juvenile Hyaline Fibromatosis: Case Reports and Review of the Literature". Clinical Rheumatology 18, n.º 3 (1 de maio de 1999): 248–52. http://dx.doi.org/10.1007/s100670050094.

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Gleadle, Kathryn, e Ryan Hanley. "CHILDREN AGAINST SLAVERY: JUVENILE AGENCY AND THE SUGAR BOYCOTTS IN BRITAIN". Transactions of the Royal Historical Society 30 (11 de novembro de 2020): 97–117. http://dx.doi.org/10.1017/s0080440120000055.

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AbstractIn late eighteenth- and early nineteenth-century Britain, many contemporaries observed a striking phenomenon: that children were especially active in the boycotts of sugar produced by enslaved people. First-hand accounts often suggested that children's activism was unilateral and unmediated, whereas historians of British abolitionism have tended to assume that children were passive recipients of antislavery literature and adult influence. Engaging with both the historiography on British abolitionism and the new histories of childhood, this article examines the nature of juvenile engagement within the sugar boycotts. Collecting together some of the extensive but dispersed evidence of juvenile antislavery across the country, and focusing upon a case study of the Plymley household of Shropshire during the early 1790s, we explore the intricacies of children's involvement. Children's agency, we argue, needs to be understood as a specific, historicised phenomenon. Adults often chose to represent children's abolitionist activities as self-determined, for their participation in the boycotts affirmed both adult positions and their own child-rearing practices. However, whilst adults frequently solicited particular types of juvenile response, children often responded independently and in unexpected ways, negotiating their own positions in relation to their parents, siblings, and peers. We situate juvenile antislavery as a recursive process, operating within complex, intergenerational interactions.
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Suhail Abu Ghoush, Mousa, Mahfoud El. Bashari, Amani Alzaabi e Mohammed Aboelnaga. "Juvenile Neuronal Ceroid Lipofuscinosis: A Rare Case Report with Literature Review in a Siblings Pair Having Cardiac Involvement". American Journal of Medical Case Reports 8, n.º 12 (18 de agosto de 2020): 443–46. http://dx.doi.org/10.12691/ajmcr-8-12-2.

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Abdurakhmanova-Pavlova, Daria V. "Sister Ruth’s Stories, or, Evenings with John Woolman (1865) and Juvenile Literature of Domestic Abolitionism". Literature of the Americas, n.º 13 (2022): 367–82. http://dx.doi.org/10.22455/2541-7894-2022-13-367-382.

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Juvenile literature of “domestic abolitionism” seems to be one of the most interesting, yet under-researched branches of American abolitionist literature. Domestic abolitionist authors were usually women, who often published their texts anonymously or assuming pseudonyms. Diverse as they are in terms of genre, these texts share a set of common features. Among these features, according to Deborah De Rosa, is employment of three overarching images: the abolitionist mother-historian, the slave child, the white child. The mother-historian tells stories to foster “a change of hearts” of her young listeners, to inspire their empathy for their enslaved peers, and to engage them in the abolitionist cause. This paper focuses on semi-anonymous Sister Ruth’s Stories, or, Evenings with John Woolman (1865) — a domestic abolitionist text, which seems to have been overlooked in literary studies so far. Sister Ruth’s Stories are constructed as a sequence of evening conversations between Sister Ruth (“Motherhistorian”) and her younger siblings. The topic of these conversations is life of John Woolman (1720 –1772), a famous Quaker minister and proto-abolitionist. Sister Ruth retells children the plot of Woolman’s Journal, describing his personal campaign against slavery. She comments upon this autobiographical text, embellishing it with some additional sentimental scenes, biblical and poetical allusions. In Sister Ruth’s Stories, didacticism of domestic abolitionist literature seems to be counterbalanced by the multi-voice chorus of Ruth’s listeners, with their unfeigned reactions to the stories. As for revision of national history, which is also a substantial part of domestic abolitionist literature, it plays a pivotal role in the book, and yet appears moderate. Published in the last year of the Civil War, Sister Ruth’s Stories seem to embrace both abolitionist and pacifist messages of John Woolman’s Journal.
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Satirer, Özlem, Selin Aytac, Baris Kuskonmaz, Sule Unal, Fatma Gumruk, Charlotte Niemeyer e Mualla Cetin. "Children with Juvenile Myelomonocytic Leukemia (JMML); A Single Center Experience". Blood 132, Supplement 1 (29 de novembro 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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Buker, Hasan, e Ayhan Erbay. "Is This Kid a Likely Experimenter or a Likely Persister? An Analysis of Individual-Level and Family-Level Risk Factors Predicting Multiple Offending Among a Group of Adjudicated Youth". International Journal of Offender Therapy and Comparative Criminology 62, n.º 13 (7 de fevereiro de 2018): 4024–45. http://dx.doi.org/10.1177/0306624x18755917.

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To implement effective diversion programs and determine for a well-suited intervention strategy, ascertaining who, among the adjudicated youth, is more likely to involve in multiple offending, rather than desisting after an initial delinquent behavior, is of great significance. The overall objective of this study, therefore, is to contribute to the existing knowledge on assessing the risks for multiple offending during juvenile adjudication processes. In this regard, this study examined the predicting powers of several individual-level and family-level risk factors on multiple offending during adolescence, based on a data set derived from court-ordered social examination reports (SERs) on 400 adjudicated youth in Turkey. Two binomial regression models were implemented to test the predictor values of various risk factors from these two domains. Results indicated the following as significant predictors of multiple offending among the subjects: younger age of onset in delinquency, dropping out of school, having delinquent/drug abusing (risky) friends, being not able to share problems with the family, increased number of siblings, and having a domestically migrated family. Conclusively, these findings were compared with the existing literature, and the policy implications and recommendations for future research were discussed.
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Britton, Carrie, e Ann Moore. "Views from the Inside, Part 1: Routes to Diagnosis — Families' Experience of Living with a Child with Arthritis". British Journal of Occupational Therapy 65, n.º 8 (agosto de 2002): 374–80. http://dx.doi.org/10.1177/030802260206500805.

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This is the first of a trilogy of articles that presents the experiences and perspectives of 46 families about what it is like to live with and care for a child with juvenile idiopathic arthritis (JIA). An independent professional recruited the children from a random sample of families who attended consecutive outpatient appointments at the juvenile arthritis clinic and who fulfilled the inclusion criteria. Qualitative and quantitative data from self-completion questionnaires, transcripts from semi-structured interviews with family members in their homes, family-filmed video diaries, and diaries written by siblings and children with arthritis were analysed. These different types of data were gathered over 18 months in order to collect information about the fluctuating nature of this disease and the impact of this changeability on family members. Part 1 concentrates on a brief presentation of relevant literature, presents a simplified map of the findings and introduces the families' early experiences of seeking and coping with the diagnosis of JIA. The article explores the myth that arthritis only affects elderly and infirm people, explains the mirage effect and discusses the significance of different routes to diagnosis. The majority of the families felt that these early events had a significant, sometimes considerable, impact upon how they coped later, including how they related subsequently to health care professionals and engaged with continuing prescribed health care programmes. The findings report the families' experiences as recipients of health care by many different professionals and relate to their recollection and interpretation of events. Research into the professionals' perspectives would be illuminating but did not fall within the scope of the present study. The experiences of families of children with arthritis are shared by families of children with other chronic conditions and by other carers and service users.
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Tashkandi, Mariam, Duaa Baarma, Andrea C. Tricco, Cyrus Boelman, Reem Alkhater e Berge A. Minassian. "EEG of asymptomatic first‐degree relatives of patients with juvenile myoclonic, childhood absence and rolandic epilepsy: a systematic review and meta‐analysis". Epileptic Disorders 21, n.º 1 (fevereiro de 2019): 30–41. http://dx.doi.org/10.1684/epd.2019.1024.

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ABSTRACTAims. Rolandic (RE), childhood absence (CAE) and juvenile myoclonic (JME) epilepsy encompass centrotemporal sharp waves, 3‐Hz spike waves and >3‐Hz spike or polyspike waves, respectively. Evidence abounds for genetic roles in all three syndromes, yet involved genes for the vast majority of patients remain unknown. It has long been proposed that while each disease is genetically complex, its specific EEG trait may represent a genetically simpler endophenotype. This meta‐analysis of the literature focuses on the frequency of EEG traits in clinically unaffected first‐degree relatives towards determining inheritance patterns of the EEG endophenotypes.Methods. We used the Preferred Reporting Items for Systematic Review and Meta‐Analysis for protocols (PRISMA‐P) and searched Medline, EMBASE, CINHAL and the Cochrane Central Register of Controlled Trials.Results. Following extensive screening, 15 studies were included with a total of 3,858 asymptomatic relatives. The prevalence of ‘abnormal’ EEG waves was 21%, 42% and 33% for JME, CAE and RE, respectively, close to what would be expected based on Mendelian inheritance. However, breaking down the reported EEG abnormalities, most consisted not of the respective EEG signature traits ‐prevalences of which were as low as 5%‐ but of non‐specific EEG ‘abnormalities’/variants.Conclusions. Prevalence of non‐specific EEG ‘abnormalities’/variants in the general population ranges from 0.1 to 10%. Underlying this 100‐fold‐wide range is a spectrum of what is considered ‘abnormal’ or variant. The prevalences of ‘abnormalities’/variants in asymptomatic siblings in RE, CAE and JME significantly exceed even the highest value in the general population and fall within Mendelian expectations. These results suggest that EEG ‘abnormalities’/variants shared with the general population are enriched in the three syndromes and are endophenotypes inherited in a genetically simple near‐Mendelian fashion. Future work with modern EEG variant definitions should uncover genetic variants contributing to neuronal hypersynchrony in epilepsy.
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Kajabi, Abdul Wahed, Stefan Zbyn, Bradley Nelson, Kevin Shea, Cathy Carlson, Jutta Ellermann e Marc Tompkins. "Poster 200: High Prevalence of Abnormal Imaging Findings in Clinically Asymptomatic Siblings Of JOCD Patients On 3T Knee MRI". Orthopaedic Journal of Sports Medicine 10, n.º 7_suppl5 (1 de julho de 2022): 2325967121S0076. http://dx.doi.org/10.1177/2325967121s00761.

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Objectives: Endochondral ossification is a skeletal developmental process in children by which the embryonic cartilaginous model of bones undergoes gradual ossification over time until skeletal maturity is reached. Juvenile Osteochondritis Dissecans (JOCD) is a developmental disease characterized by focal areas of chondronecrosis within the epiphyseal cartilage and subsequent delay of the ossification front. JOCD lesions can become loose bodies and lead to premature Osteoarthritis. The etiology of JOCD is not yet well understood, however, there is mounting evidence of a genetic predisposition. Recently, positive familial history, including familial OCD and a genome-wide association study in humans identified genetic loci related to juvenile OCD. In this longitudinal pilot study, we examined siblings of JOCD patients utilizing clinical 3T MRI data to evaluate morphological integrity of the epiphyseal cartilage and the advancing ossification front in the distal femoral condyles in bilateral knees. We hypothesized that asymptomatic, clinically “silent” JOCD lesions could be detected in young siblings of patients affected by JOCD. Methods: In this longitudinal study, 44 MRI datasets from seven skeletally immature participants with no clinical symptoms (7 siblings of JOCD patients; 3 females; 12 bilateral knees; average age at first visit=8.7 years; range=6-10 years) were evaluated. This study was approved by the institutional review board and informed consent was obtained. All images were acquired at 3T MRI system with a 1Tx/15Rx knee coil. Sagittal PD-weighted TSE images without fat suppression (TR/TE = 3900/40 ms, resolution = 0.36x0.36 mm2, scanning time = 1min:49s) and with fat suppression (TR/TE = 3530/40 ms, resolution = 0.36x0.36 mm2, scanning time = 3min:46s) were acquired bilaterally at first visit and at multiple MRI follow-up studies ranging from 6-21 months. The images were reviewed by an experienced musculoskeletal radiologist using the following MRI criteria: (i) integrity of the ossification front; (ii) presence/absence of bone marrow edema; (iii) intact/disrupted secondary physis; and (iv) T2 hyperintensity in epiphyseal cartilage. Results: Five of seven participants (71%) met at least one of the MRI criteria defining a JOCD lesion. Six of the seven participants (86%) had an irregular ossification front at the distal aspect of the medial and/or lateral femoral epicondyles, focal areas of T2 hyperintensities in the epiphyseal cartilage, and a disrupted secondary physis. Of the 13 imaged knees, two knees (both lateral and medial epicondyle) from the same participant and two knees (only lateral epicondyle) had no abnormal MRI findings (= 6 normal epicondyles). Abnormal findings in the medial and lateral epicondyles of the remaining bilateral knees resolved over time in 11 epicondyles (Fig. 1), whereas in the remaining 9 epicondyles the abnormal findings persisted or progressed (Fig. 2). Conclusions: The most important finding of this pilot study is the high prevalence (6 out of 7, 86%) of morphological changes during skeletal development in this group of first-degree relatives of JOCD patients. Furthermore, 71% (5 out of 6) of participants met the imaging criteria for early JOCD lesions at least at one time point during the study without developing any clinical symptoms. There is mounting evidence of a genetic contribution to the etiology of JOCD. In the literature, so called ossification variants are considered morphological variants of bone shape with an overall prevalence of 12% and are believed to resolve naturally over time. While 55% of the epicondyles with abnormalities in the ossification front in our cohort resolved over time on MRI, during the course of this study – typically 8-21 months, the remaining 45% did not resolve or occurred at the last imaging time point with associated marrow edema and needed clinical surveillance. A high incidence of MRI abnormalities in the ossification front, epiphyseal cartilage and secondary physis in a clinically asymptomatic study group of first degree relatives of patients with JOCD supports the hypothesis a) that there is a strong genetic predisposition for this disease, b) clinically “silent” initial stages of the disease could be overlooked, challenging the common current understanding of normal physiologic “ossification variants”. [Figure: see text][Figure: see text]
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Abbas, Y., N. Ihsan, F. I. Gorial e G. Saleh. "POS1466 A CASE REPORT OF IRAQI CHILD WITH MONA SYNDROME AND GALACTOSEMIA". Annals of the Rheumatic Diseases 81, Suppl 1 (23 de maio de 2022): 1079.1–1079. http://dx.doi.org/10.1136/annrheumdis-2022-eular.1403.

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BackgroundMONA) Multicentric Osteolysis, subcutaneous Nodulosis and Athropathy(is a rare autosomal recessive disorder caused by inactivating mutations in the matrix metallopeptidase 2 (MMP2) gene.It is manifested by osteolysis of the carpal and tarsal bones, progressive joint contractures, and fibrocollagenous nodules (1,2). In addition, there are reports of gingival hypertrophy, pigmented skin lesions, coarse face, corneal opacities, and cardiac defects (1,3). Because of joint contractures and dysmorphic features and radiological findings, it can be misdiagnosed as juvenile idiopathic arthritis and mucopolysaccharidoses respectively(4). Most affected children are apparently normal at birth with symptoms’ onset usually between six months and six years of age (5); the range is from birth to 11 years (2).To date, 51 individuals have been identified with biallelic pathogenic variants in MMP2 (3,6).Here we report a case of child MONA and galactosemia which is not known before.ObjectivesTo share this interesting extremely rare presentation and new associationMethodsAn eight year old Iraqi boy with Galactosemia at the 4th month of life presented with 4 years history of fractures of his long and short bones after trivial traumas with progressive painful deformities in hands and feet with limitation motion He has seizures, and Atrial septal defects. Intellect is normal, He had coarse facial features, hypertelorism, gum hypertrophy with high arched palate and hirsutism. Painful subcutaneous nodules involving both palms and soles (Figure 1).Figure 1.ResultsThe immunological, hematological and ultrasound were normal. The X-rays showed osteopenia, decrease in joint space and resorption of phalanges with cortical thinning and expansion of the phalangeal and metacarpal bones was a distinct finding (Figure 1). Genetic study revealed Homozygous MMP2 mutation.ConclusionDiagnosis of MONA Combined with galactosemia was made.References[1]Tuysuz B, Mosig R, Altun G, Sancak S, Glucksman MJ, Martignetti JA. A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects. European journal of human genetics. 2009;17(5):565–72.[2]Castberg FC, Kjaergaard S, Mosig RA, Lobl M, Martignetti C, Martignetti JA, et al. Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review. European journal of pediatrics. 2013;172(12):1657–63.[3]Bhavani GS, Shah H, Shukla A, Gupta N, Gowrishankar K, Rao AP, et al. Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy. Am J Med Genet A. 2016 Feb;170A(2):410–7.[4]L. Kröger et al., “A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy,” Mol. Genet. genomic Med., vol. 7, no. 8, p. e802, 2019.[5]Azzollini J, Rovina D, Gervasini C, Parenti I, Fratoni A, Cubellis MV, et al. Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy. Journal of human genetics. 2014;59(11):631–7.[6]H. Elsebaie, M. A. Mansour, S. M. Elsayed, S. Mahmoud, and T. A. El-Sobky, “Multicentric Osteolysis, Nodulosis, and Arthropathy in Two Unrelated Children with Matrix Metalloproteinase 2 Variants: Genetic-Skeletal Correlations,” 2021.Disclosure of InterestsNone declared
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Gebo, Erika. "A Contextual Exploration of Siblicide". Violence and Victims 17, n.º 2 (abril de 2002): 157–68. http://dx.doi.org/10.1891/vivi.17.2.157.33649.

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This article contextualizes the exploration of sibling homicide, or siblicide, a phenomenon that traditionally has received very little attention within the academic literature. Siblicide is examined in relation to other family homicides and other known homicides. Given the traditional frequency, duration, and intensity of youthful sibling relationships, juvenile homicides are disaggregated from adult homicides to reveal whether there are any differences. Although previous research has questioned the use of the Supplementary Homicide Reports for this type of analysis (Daly, Wilson, Salmon, Hiraiwa-Hasegawa, & Hasegawa 2001), the utility of the data set is demonstrated. The results of this exploration suggest that siblicide may be examined within the theoretical contexts of sociobiology and routine activities theory.
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Senzaki, Hideto, Yasuhiko Kiyozuka, Yoshiko Uemura, Nobuaki Shikata, Satoshi Ueda e Airo Tsubura. "Juvenile hyaline fibromatosis: A report of two unrelated adult sibling cases and a literature review". Pathology International 48, n.º 3 (março de 1998): 230–36. http://dx.doi.org/10.1111/j.1440-1827.1998.tb03898.x.

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Samadzadeh, Sara, Theodor Kruschel, Max Novak, Michael Kallenbach e Harald Hefter. "Different Response Behavior to Therapeutic Approaches in Homozygotic Wilson’s Disease Twins with Clinical Phenotypic Variability: Case Report and Literature Review". Genes 13, n.º 7 (7 de julho de 2022): 1217. http://dx.doi.org/10.3390/genes13071217.

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Background: Wilson’s disease (WD) is an autosomal-recessive disorder of copper deposition caused by pathogenic variants in the copper-transporting ATP7B gene. There is not a clear correlation between genotype and phenotype in WD regarding symptom manifestations. This is supported by the presentation of genetically identical WD twins with phenotypic discordance and different response behavior to WD-specific therapy. Case Presentation: One of the female homozygous twins (age: 26 yrs) developed writing, speaking, swallowing and walking deficits which led to in-patient examination without conclusive results but recommended genetic testing. Both sisters were tested and were heterozygous for the C.2304dupC;p(Met769Hisf*26) and the C.3207C>A;p(His1069Gln) mutation. Self-medication of the affected sibling with 450 mg D-penicillamine (DPA) did not prevent further deterioration. She developed a juvenile parkinsonian syndrome and became wheelchair-bound and anarthric. A percutaneous endoscopic gastrostomy was applied. Her asymptomatic sister helped her with her daily life. Despite the immediate increase of the DPA dose (up to 1800 mg within 3 weeks) in the severely affected patient and the initiation of DPA therapy (up to 600 mg within 2 weeks) in the asymptomatic patient after the first visit in our institution, liver function tests further deteriorated in both patients. After 2 months, the parkinsonian patient started to improve and walk again, but experienced several falls, broke her right shoulder and underwent two necessary surgical interventions. With further consequent copper elimination therapy, liver dysfunction improved in both patients, without need for orthotopic liver transplantation (LTX) in the severely affected patient. Her excellent recovery of liver and brain dysfunction was only transiently interrupted by the development of a nephrotic syndrome which disappeared after switching to Cuprior®. Unfortunately, she died from fulminant pneumonia. Conclusion: Despite identical genetic disposition, WD symptom presentations may develop differently in monozygotic twins, and they may need to be placed on a very different therapeutical regimen. The underlying gene-environment interaction is unclear so far.
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Alexander, Christine. ""That Kingdom of Gloo": Charlotte Brontë, the Annuals, and the Gothic". Nineteenth-Century Literature 47, n.º 4 (1 de março de 1993): 409–36. http://dx.doi.org/10.2307/2933782.

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While Charlotte Brontë has been hailed as a writer of the "New Gothic," hers is not an isolated revision of so-called "old" Gothic but one that sprang naturally from a variety of contemporary source material in the period. This article examines the Brontë juvenilia and its sources in order to show that this change was as much a continuum in the history of literature as a new departure. The article focuses on the periodical literature of the early nineteenth century, in particular the Annuals that were introduced to the English market in 1822 and that continued to print Gothic tales and fragments well into the 1850s. From the Annuals Brontë learned not only to imitate but to parody the Gothic form: her early writings show that the Gothic allowed her to indulge in the exotic, the licentious, and the mysterious while at the same time assuming that anti-Gothic stance that is so characteristic in her novels. Moreover, her use of the Gothic doppelgänger allowed her to probe the psychological contradictions of her heroes Percy and Zamorna. Here we see Brontë's first step toward examining those "terrors that lie deep in the human soul." The deliberately complicated narrative can also be read as Gothic: it is a maze distorter by rival narrators and constructed chiefly from literary and visual models with the intention to confuse and amuse not only her siblings but her imagined audience. The Gothic provided basic material in this "play": a set of conventions that could be used first as raw material, then as the chief ingredient of parody, and finally-though gradually-as a means to explore the riddles of our thought and feeling.
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Dedic, Gordana, Barbara Djordjevic e Srdjan Dedic. "Victimization in childhood as a suicide risk factor in adults". Vojnosanitetski pregled 76, n.º 7 (2019): 667–74. http://dx.doi.org/10.2298/vsp170826142d.

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Background/Aim. There is a burgeoning literature on the association between childhood victimization and the risk of suicidal behavior in early adolescence, while there is significantly less research showing this association in adults. The aim of our study was to examine whether victimization in childhood increased the likelihood of suicide attempt in adults. Methods. The sample consisted of 90 patients, 71 females and 19 males, aged 37.92 ? 11.04 years on average, hospitalized in the Day Hospital of the Clinic of Psychiatry Military Medical Academy, Belgrade, Serbia. The Juvenile Victimization Questionnaire (JVQ), Defense Style Questionnaire (DSQ-40) and Beck Depression Inventory were used for 50 patients following suicide attempt and in 40 patients who were on psychotherapeutic treatment due to various life crises not resulting in suicide attempt. According to the indications, we excluded the patients with psychosis (F20-F29, F30-31 and F 32.3), substances abuse (F10-F19) and dementia (F00-F09), satisfying International Classification of Diseases-10 version (ICD-10) (the World Health Organization criteria). The examinees of both groups were matched by age, education and marital status. Comparison of the patient groups was done by the Students? t-test for the parametric features and Mann-Whitney U test for nonparametric data. Results. The suicide attempters had moderate depression (19.76 ? 10.52) and used immature defense mechanisms (p < 0.001). The JVQ established statistical differences in the Total score (p < 0.005) and in two modules: Peer and Sibling Victimization (p < 0.005) and Sexual victimization (p < 0.005). Conclusion. The adults who were more likely to attempt suicide during their lifetime were more often victims of peer and sexual abuse in their childhood. Data on victimization in early childhood provide opportunities for early detection of persons with suicide risk that could help in the psychotherapeutic work with these patients, but also in the suicide prevention in a wider population.
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Ferhat, A., F. Mechid, A. Rahmoune, M. A. Ifticene, R. Benaziez, R. Aboura e C. Dahou-Makhloufi. "P095 Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome: a case report". Rheumatology 60, Supplement_5 (1 de novembro de 2021). http://dx.doi.org/10.1093/rheumatology/keab722.087.

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Abstract Background Camptodactyly, arthropathy, coxa vara, pericarditis (CACP) syndrome is a rare genetic disorder with autosomal recessive transmission including camptodactyly, synovial hyperplasia-related arthropathy, progressive coxa vara deformity and non-inflammatory pericarditis. We report the observation of a case. Observation S.Y aged 8.5 years, from a consanguineous marriage, presented with a chronic arthropathy affecting wrists, knees and ankles that had been evolving for 6 years and currently, elbows are also affected. The history includes surgery for claw deformity of the hands at the age of 3. No similar cases in the family. Osteoarticular examination showed symmetrical swelling of the elbows, wrists (Fig. 1),knees (Fig. 2) and ankles (Fig. 3.The affected joints were neither red, painful nor warm on palpation, with normal mobility. The onset of symptoms could not be determined due to the indolence of the condition and the rest of the clinical examination was unremarkable. Discussion CACP syndrome is a more common condition in the Middle East and North Africa, with about 20 cases reported worldwide. This syndrome is still poorly understood and is often confused with juvenile idiopathic arthritis. It should be suspected in the presence of any congenital claw deformity of the hands (camptodactyly) with a chronic non-inflammatory arthropathy, which are constant signs. Coxa-vara and pericarditis (found respectively in 60 and 30% of cases) should be systematically sought. The consanguinity reported in the literature is also present in our case. However, there are no similar cases in siblings. The diagnosis is important, thus avoiding the initiation of unnecessary treatments such as corticosteroids, DMARDs or biotherapy. Biology no inflammatory syndrome, FAN negatives. Standard X-ray of the pelvis presence of a coxa-vara on the right Joint ultrasound common tenosynovitis of the extensors of the fingers, effusion with synovial hypertrophy without a Doppler catch of the elbows, knees and ankles Myelogram without abnormality. Cardiac ultrasound without pericarditis. The diagnosis of CACP was made in view of: a history of camptodactyly, chronic non-inflammatory arthropathy and coxa-vara. Analgesic treatment was instituted in case of pain, with cardiac monitoring by ultrasound every 6 months. Conclusion CACP syndrome is a rare disease often confused with juvenile idiopathic arthritis. Congenital camptodactyly and non-inflammatory arthropathy are very evocative of the diagnosis. The absence of similar cases in siblings makes our observation special.
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Cousandier, Gabriela, Ariane Damiani Scholten, Gisele Scotton e Carine Stefanello. "Juvenile-Onset Ischemic Dermatopathy in a Dog". Acta Scientiae Veterinariae 49 (3 de março de 2021). http://dx.doi.org/10.22456/1679-9216.105583.

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Background: Juvenile-onset ischemic dermatopathy is a rare dermatosis in dogs. Reports on this condition are scarce in the literature, and its pathogenesis is poorly understood. This disease consists of a set of alterations that exhibit similar clinical and histological characteristics, and which are associated with cutaneous vasculopathic processes. Consequently, this case report describes the clinical case of a dog diagnosed with juvenile-onset ischemic dermatopathy. Case: A 9-month-old female mongrel dog exhibited significant tegumentary alterations, while other contact animals (siblings and mother) did not. The patient history did not contain a complete record of vaccines, and included previous therapeutic failures. A general skin examination revealed the presence of erythematous lesions containing crusts and erosions associated with extended areas with alopecia, especially in the ears, nose, and tail. Therefore, skin cytology and a parasitological examination of the skin and cerumen were performed. These tests revealed the presence of neutrophilic inflammatory process, bacterial inflammation, and various yeast-like structures compatible with Malassezia sp. The parasitological examination of the cerumen revealed the presence of numerous mites of the Otodectes cynotis species.Consequently, the dog received a treatment that included amoxicillin with potassium clavulanate, itraconazole, therapeutic baths with a shampoo containing chlorhexidine and miconazole, and an antiparasitic medication containing sarolaner, which was administered once every 35 days. Thirty days later, the patient returned with a significant improvement of the lesions, except those in the ears and tail; consequently, material from these two body areas was submitted to histopathological examination, and additional tests were performed to allow differential diagnosis. The histopathological report indicated the existence of interface dermatitis (cytotoxic), and suggested the clinical hypothesis of chronic juvenile ischemic dermatopathy secondary to vasculitis, since the patient exhibited lesions and clinical history compatible with this condition. Accordingly, the patient was given a treatment with oclacitinib at a dose of 0.6 mg/kg every 12 h for 60 days, and at a dose of 0.6 mg/kg every 24 h thereafter. This treatment resulted in significant improvement of the lesions, with only scars remaining. Complete blood count and biochemical tests performed after two months of treatment returned values within the normal ranges. Side effects from the medication used were not observed. Six months after commencement of oclacitinib administration, the patient remained stable and exhibited no new lesions. Discussion: Cutaneous vasculopathies are not biased by breed, and are secondary to deposition of immune complexes that develop owing to factors such as presence of pathogenic agents, immune-mediated diseases, exposure to viral particles present in the rabies vaccine, and alimentary hypersensitivities, among others. This condition is divided into five distinct categories, among which juvenile-onset ischemic dermatopathy is included. A specific treatment for this condition is not established, as it has peculiar characteristics. However, reported studies have demonstrated good results with the use of oclacitinib maleate. This drug is an inhibitor of Janus kinase, an enzyme involved in hypersensitivity reactions and pruritus in dogs. Published studies have reported that oclacitinib is effective for the control of the inflammatory processes that occur in this type of cutaneous vasculopathy, which explains the therapeutic success in the case described here.
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Mueller, Adeline. "Roses Strewn Upon the Path: Rehearsing Familial Devotion in Late Eighteenth-Century German Songs for Parents and Children". Frontiers in Communication 6 (3 de setembro de 2021). http://dx.doi.org/10.3389/fcomm.2021.705142.

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Intra- and inter-generational family singing is found throughout the world’s cultures. Children’s songs across many traditions are often performed with adult family members, whether simultaneously (in unison or harmony) or sequentially (as in call-and-response). In one corpus of printed children’s songs, however, such musical partnering between young and old was scripted, arguably for the first time. Children’s periodicals and readers in late eighteenth-century Germany offered a variety of poems, theatricals, riddles, songs, stories, and non-fiction content, all promoting norms around filial obedience, virtue, and productivity. Readers were encouraged to share and read aloud with members of their extended families. But the “disciplining” going on in this literature was as much emotional as it was moral. Melodramatic plots to dialogues, plays, and Singspiele allowed for tenderness and affection to be role-played in the family drawing room. And the poems and songs included in and spun off from these periodicals constituted, for the first time, a shared repertoire meant to be sung and played by young and old together. Duets for brothers and sisters, parents and children—with such prescriptive titles as “Brotherly Harmony” and “Song from a Young Girl to Her Father, On the Presentation of a Little Rosebud”—not only trained children how to be ideal sons, daughters, and siblings. They also habituated mothers and fathers to the new culture of sentimental, devoted parenthood. In exploring songs for family members to sing together in German juvenile print culture from 1700 to 1800, I uncover the reciprocal learning implied in text, music, and the act of performance itself, as adults and children alike rehearsed the devoted bourgeois nuclear family.
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Khanom, Sonia, John McBeth, Michelle Briggs, Ebru Bakir e Janet McDonagh. "P36 Adolescents’ experiences of fluctuating pain in musculoskeletal disorders: a qualitative systematic review and thematic synthesis". Rheumatology 58, Supplement_4 (30 de setembro de 2019). http://dx.doi.org/10.1093/rheumatology/kez416.003.

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Abstract Background Adolescents with chronic musculoskeletal pain experience pain that fluctuates within and across days. The aim of this review was to (i) synthesise the qualitative literature on adolescents’ experiences of fluctuating pain in musculoskeletal disorders, (ii) identify the concept of pain flare and how this may differ from daily fluctuation of pain, and (ii) identify knowledge gaps to inform the design of future research. Methods Six electronic databases (MEDLINE, EMBASE, PsycINFO, CINAHL, OpenGrey and Scopus) and reference lists of relevant articles were searched from inception to June 2018. Articles were eligible for inclusion if they were qualitative studies exploring the experiences of pain in adolescents, aged between 10–19 years, diagnosed with juvenile idiopathic arthritis (JIA) and chronic idiopathic pain syndromes (CIPS). Comprehensiveness of reporting was assessed using the Consolidated Criteria for Reporting Qualitative Health Research (COREQ) framework, and studies were analysed using thematic synthesis. Results Of the 3,787 records identified, 32 studies were included from 11 countries. 536 young people with JIA or CIPS participated in the studies, of which 509 had a diagnosis of JIA, and 27 with CIPS. Interviews were conducted in 29 studies, with 9 studies also combining interviews with focus groups, observations, questionnaires, researcher journaling, visual depictions and diaries. Although all included studies reported adolescent’s experience of pain, only 19 studies provide insight into the impact of fluctuating pain on an individual’s life and lived experience. 21 studies included data from parents, siblings, health professionals and/or individuals with other chronic illnesses, but efforts were made to only extract data referring to or expressed by adolescents with JIA or CIPS. Ages of patients ranged from 3 to 23 years, but all studies averaged within the adolescent range. Principal findings were synthesised under three themes: 1) symptom experience, 2) disruption and loss, and 3) regaining control. These themes can be seen to describe a journey through which the adolescent experiences fluctuating pain and associated symptoms, encounters the challenges to lifestyle that fluctuating pain presents, followed by employing coping strategies to regain a sense of control of their lives and pain. Each stage is experienced differently depending on individual factors such as adolescents’ developmental status, pain condition, and duration of the pain experience. Conclusion Adolescents with chronic musculoskeletal pain live with a daily background level of symptoms which frequently fluctuate and are associated with functional and emotional difficulties. It is not clear whether these symptoms and challenges are experienced as part of normal fluctuations in pain, or whether they reflect symptom exacerbations classified as flares. Further research is needed to explore the frequency and characteristics of pain flares, and how they differ from their normal fluctuations in pain. Conflicts of Interest The authors declare no conflicts of interest.
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Benakli, Malek, Malek Benakli, Redhouane Ahmed Nacer, Farih Mehdid, Mounira Baazizi, Nadia Rahmoune, Dina Ait Ouali et al. "Hematopoietic Stem Cell Transplantation in Juvenile Myelomonocytic Leukemia: A Case Report and Literature Review". International Journal of Regenerative Medicine, 14 de outubro de 2022, 1–4. http://dx.doi.org/10.31487/j.rgm.2022.02.02.

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Juvenile myelomonocytic leukemia (JMML) is a rare hematological malignancy of early childhood, classified by the World Health Organization as a myelodysplastic/myeloproliferative disease and is associated with a poor prognosis. Allogeneic hematopoietic stem cell transplantation is the only curative treatment. A two-year-old male child was diagnosed with JMML and was given induction chemotherapy. One year after diagnosis, the patient received allogeneic hematopoietic stem cell transplantation from an HLA sibling donor after a myeloablative conditioning regimen. The patient remained free of disease after 5 years of follow-up, healthy, with complete clinical, immunologic and hematologic recovery, without signs of JMML. Transplantation is the only modality to achieve a cure in JMML patients. The most widely practiced approach is the use of bone marrow or peripheral blood stem cells after a myeloablative conditioning regimen. Post-transplant monitoring chimerism can help identify the patients who are at risk of relapse.
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Young, Julie Elizabeth. "The Textual Presence of Mary Shelley’s The Last Man in the Juvenila of the Brontë Siblings". Literary Imagination, 18 de maio de 2023. http://dx.doi.org/10.1093/litimag/imad013.

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