Academic literature on the topic 'Very early onset IBD'
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Journal articles on the topic "Very early onset IBD"
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Batura, Vritika, and Aleixo M. Muise. "Very early onset IBD." Current Opinion in Allergy and Clinical Immunology 18, no. 6 (December 2018): 470–80. http://dx.doi.org/10.1097/aci.0000000000000486.
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Magg, Thomas, Anna Shcherbina, Duran Arslan, Mukesh M. Desai, Sarah Wall, Vanessa Mitsialis, Raffaele Conca, et al. "CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease." Inflammatory Bowel Diseases 25, no. 11 (May 22, 2019): 1788–95. http://dx.doi.org/10.1093/ibd/izz103.
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Abstract Background Children with very early onset inflammatory bowel diseases (VEO-IBD) often have a refractory and severe disease course. A significant number of described VEO-IBD-causing monogenic disorders can be attributed to defects in immune-related genes. The diagnosis of the underlying primary immunodeficiency (PID) often has critical implications for the treatment of patients with IBD-like phenotypes. Methods To identify the molecular etiology in 5 patients from 3 unrelated kindred with IBD-like symptoms, we conducted whole exome sequencing. Immune workup confirmed an underlying PID. Results Whole exome sequencing revealed 3 novel CARMIL2 loss-of-function mutations in our patients. Immunophenotyping of peripheral blood mononuclear cells showed reduction of regulatory and effector memory T cells and impaired B cell class switching. The T cell proliferation and activation assays confirmed defective responses to CD28 costimulation, consistent with CARMIL2 deficiency. Conclusion Our study highlights that human CARMIL2 deficiency can manifest with IBD-like symptoms. This example illustrates that early diagnosis of underlying PID is crucial for the treatment and prognosis of children with VEO-IBD.
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Conrad, Maire A., and Judith R. Kelsen. "Genomic and Immunologic Drivers of Very Early-Onset Inflammatory Bowel Disease." Pediatric and Developmental Pathology 22, no. 3 (March 6, 2019): 183–93. http://dx.doi.org/10.1177/1093526619834807.
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Purpose of Review Inflammatory bowel disease (IBD) is a multifactorial disease caused by dysregulated immune responses to commensal or pathogenic intestinal microbes, resulting in chronic intestinal inflammation. However, a subset of patients with IBD diagnosed <6 years of age, known as very early-onset (VEO)-IBD, can be phenotypically and genetically distinct from older onset IBD. We aim to review the clinical presentation of children with VEO-IBD and recent discoveries that point to the underlying genomic and immunologic drivers of disease, and the significant impact on our therapeutic decisions. Recent Findings VEO-IBD is increasing in incidence and is associated with more severe disease, aggressive progression, and poor response to most conventional therapies. This article will review some of the genetic findings in this population and the subsequent impact on therapy, with targeted approaches. Summary Children with VEO-IBD may present with a different phenotype and more severe disease than older children and adults. An integrated approach combining genetics, immunology, and traditional IBD evaluations can lead to the identification of causal defects that directly impact management. These strategies can also be employed in older onset refractory IBD.
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Levine, Anne E., Dominique Mark, Laila Smith, Hengqi B. Zheng, and David L. Suskind. "Pharmacologic Management of Monogenic and Very Early Onset Inflammatory Bowel Diseases." Pharmaceutics 15, no. 3 (March 17, 2023): 969. http://dx.doi.org/10.3390/pharmaceutics15030969.
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Inflammatory bowel disease (IBD) is treated with a variety of immunomodulating and immunosuppressive therapies; however, for the majority of cases, these therapies are not targeted for specific disease phenotypes. Monogenic IBD with causative genetic defect is the exception and represents a disease cohort where precision therapeutics can be applied. With the advent of rapid genetic sequencing platforms, these monogenic immunodeficiencies that cause inflammatory bowel disease are increasingly being identified. This subpopulation of IBD called very early onset inflammatory bowel disease (VEO-IBD) is defined by an age of onset of less than six years of age. Twenty percent of VEO-IBDs have an identifiable monogenic defect. The culprit genes are often involved in pro-inflammatory immune pathways, which represent potential avenues for targeted pharmacologic treatments. This review will provide an overview of the current state of disease-specific targeted therapies, as well as empiric treatment for undifferentiated causes of VEO-IBD.
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Liang, Guanxiang, Maire A. Conrad, Judith R. Kelsen, Lyanna R. Kessler, Jessica Breton, Lindsey G. Albenberg, Sarah Marakos, et al. "Dynamics of the Stool Virome in Very Early-Onset Inflammatory Bowel Disease." Journal of Crohn's and Colitis 14, no. 11 (May 14, 2020): 1600–1610. http://dx.doi.org/10.1093/ecco-jcc/jjaa094.
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Abstract Background and Aims Dysbiosis of the gut microbiota is a well-known correlate of the pathogenesis of inflammatory bowel disease [IBD]. However, few studies have examined the microbiome in very early-onset [VEO] IBD, which is defined as onset of IBD before 6 years of age. Here we focus on the viral portion of the microbiome—the virome—to assess possible viral associations with disease processes, reasoning that any viruses potentially associated with IBD might grow more robustly in younger subjects, and so be more detectable. Methods Virus-like particles [VLPs] were purified from stool samples collected from patients with VEO-IBD [n = 54] and healthy controls [n = 23], and characterized by DNA and RNA sequencing and VLP particle counts. Results The total number of VLPs was not significantly different between VEO-IBD and healthy controls. For bacterial viruses, the VEO-IBD subjects were found to have a higher ratio of Caudovirales vs to Microviridae compared to healthy controls. An increase in Caudovirales was also associated with immunosuppressive therapy. For viruses infecting human cells, Anelloviridae showed higher prevalence in VEO-IBD compared to healthy controls. Within the VEO-IBD group, higher levels of Anelloviridae DNA were also positively associated with immunosuppressive treatment. To search for new viruses, short sequences enriched in VEO-IBD samples were identified, and some could be validated in an independent cohort, although none was clearly viral; this provides sequence tags to interrogate in future studies. Conclusions These data thus document perturbations to normal viral populations associated with VEO-IBD, and provide a biomarker—Anelloviridae DNA levels—potentially useful for reporting the effectiveness of immunosuppression.
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Ahamed, Nazmul, Mukesh Khadga, Wahiduzzaman Majumder, and Md Rukunuzzaman. "An Eleven Months Old Infant with Very Early Onset Inflammatory Bowel Diseases (IBD): A Rare Case Report." Bangladesh Medical Journal 50, no. 2 (August 14, 2022): 45–49. http://dx.doi.org/10.3329/bmj.v50i2.61220.
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Inflammatory bowel disease (IBD) in pediatric cases has been seen rapidly increasing in number over the last decade. Now a days four types of pediatric IBD has been identified: less than ten years of age - early onset IBD, less than six years of age - very early onset IBD, less than two years of age- infantile IBD and less than twenty eight days of age - neonatal onset IBD. Young children presented with more aggressive clinical features and severity is more than the older children and adults. Early onset disease presenting in children may have a monogenic basis. Infantile IBD or neonatal IBD having the high rates to affect the first-degree relatives and there is very high chance to develop resistance against immunosuppressive treatment. Very early onset IBD (VEO-IBD) most commonly presenting per rectal bleeding with or without mucous stools, isolated colonic disease, perianal involvement, skin lesions, whereas early onset IBD (EO-IBD) commonly presented with abdominal pain and weight loss. A thorough history, physical examination, biochemical markers, endoscopic evaluation with macroscop and microscopic findings are the only way to reach the diagnosis. The treatment of VEO-IBD is the same as that given to the adolescents and adults with IBD (eg, anti-inflammatory agents, immunomodulators, biologics, antibiotics, and surgical approaches). Here, we report a rare case of very early onset IBD of a 11 months old male infant, who presented with the complaints of blood and mucus mixed loose watery stool for 10 days, having similar episodes for last five months. He was mildly pale, and had thrombocytosis with raised C reactive protein (CRP), features of colitis in stool routine microscopic test. The diagnosis was confirmed by colonoscopy and histopathology study, which showed features of Crohn’s colitis. He was treated by anti-inflammatory drugs (steroid and mesalazine) with a significant improvement in a short time. Bangladesh Med J. 2021 May; 50(2) : 45-49
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Holbein, Christina E., Jill Plevinsky, Trusha Patel, Maire C. Conrad, and Judith R. Kelsen. "Pediatric Global Health in Children with Very Early-Onset Inflammatory Bowel Disease." Journal of Pediatric Psychology 46, no. 7 (July 27, 2021): 747–56. http://dx.doi.org/10.1093/jpepsy/jsab035.
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Abstract Objective Children with very early-onset inflammatory bowel disease (VEO-IBD) represent a distinct group of patients with IBD with unique phenotypic and genetic characteristics; however, they are frequently omitted from psychosocial research. This study used a novel, brief measure of pediatric global health to assess (1) overall health-related quality of life (HRQOL) in children with VEO-IBD, (2) HRQOL compared to healthy children, and (3) whether gastrointestinal symptoms account for the differences in HRQOL between these groups. Methods Caregivers of 51 children with VEO-IBD (Mage = 4.26 years, 75% male) and 54 healthy children (Mage = 3.50 years, 54% male) completed the PROMIS Pediatric Global Health Scale (PGH-7) parent-proxy form to assess HRQOL and a questionnaire assessing gastrointestinal symptoms. Descriptive statistics, analysis of variance with covariates (ANCOVA), and meditation analyses with bootstrapping were conducted. Results Caregivers of children with VEO-IBD rated their HRQOL as relatively positive, although children with greater disease yielded lower ratings on some PGH-7 items (e.g., fun with friends, physical health, sadness). Compared to healthy youth, children with VEO-IBD scored lower on the PGH-7, with significantly lower item-level scores on overall health, physical health, mental health, and quality of life. Gastrointestinal symptoms mediated the association between health status (i.e., VEO-IBD vs. healthy) and HRQOL, αβ = −2.84, 95% CI = −5.70, −0.34. Conclusions While some children with VEO-IBD are at risk for deficits in HRQOL, many are quite resilient. Psychosocial screening is necessary for providing appropriate referrals to behavioral health services and learning more about psychosocial adjustment in children with VEO-IBD.
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Alahmari, A. A., A. M. Al-Bahlani, B. Frenette, A. Xuan-Lan Nguyen, N. Ahmed, and A. Sant’Anna. "A251 VERY EARLY ONSET INFLAMMATORY BOWEL DISEASE IN CHILDREN: A SINGLE CENTER EXPERIENCE OVER 15 YEARS." Journal of the Canadian Association of Gastroenterology 3, Supplement_1 (February 2020): 128–29. http://dx.doi.org/10.1093/jcag/gwz047.250.
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Abstract Background Very-early-onset inflammatory bowel disease (VEOIBD) refers to an IBD diagnosis established before the 6th year of life, including a subset of patients with disease onset before the age of 2 years, known as infantile-onset IBD (IO-IBD) (1). VEO-IBD accounts for 15% of pediatric IBD and infantile IBD in approximately 1% (2,3). VEOIBD is considered to be a unique entity, and compared to adults with IBD, VEO-IBD children are more likely to present with extensive and treatment-resistant disease (4). Aims To analyze the clinical characteristics and management of patients diagnosed with very early onset inflammatory bowel disease (VEO-IBD). Methods A retrospective analysis of children diagnosed with VEO-IBD (age <6 years) at the Montreal Children’s Hospital from 2003–2018 was performed. Clinical data for VEO-IBD patients was collected to identify the clinical, biochemical, endoscopic and histological features of these patients and their clinical course until 2018. Results A total of 28 VEO-IBD patients (71% male) were included in this study. The median age of disease onset was 52 months. A diagnosis of Crohn’s disease (CD) or CD-like intestinal manifestations accounted for 89% of the VEO-IBD cases. Most patients had Crohn’s colitis (36%) of whom 50% had evidence of granulomatous Crohn’s disease; 11 patients[NAD1] [AQAB2] (39%) had upper gastrointestinal involvement. Over their progress of the disease, 4 patients (14%) required surgical intervention, while 11 patients (39%) required biologic therapy for maintenance therapy. Genetic[NAD3] [AQAB4] results were available for 5 patients out of 28 (18%) and 3 of them were identified to have monogenic IBD. Conclusions In our center, the majority of patients with VEO-IBD had typical Crohn’s disease presentation. Most of the VEO-IBD patients responded well to the standard IBD treatment. Genetic studies were not done regularly for all of our patients, however, among those who had this testing performed 3/5 had an identifiable cause, suggesting that these patients should be investigated for an underlying genetic abnormality. Funding Agencies None
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Örtqvist, Anne K., Cecilia Lundholm, Jonas Halfvarson, Jonas F. Ludvigsson, and Catarina Almqvist. "Fetal and early life antibiotics exposure and very early onset inflammatory bowel disease: a population-based study." Gut 68, no. 2 (January 10, 2018): 218–25. http://dx.doi.org/10.1136/gutjnl-2017-314352.
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ObjectiveEarlier studies on antibiotics exposure and development of IBD (Crohn’s disease (CD) and ulcerative colitis (UC)) may have been biased by familial factors and gastroenteritis. We aimed to estimate the association between antibiotics during pregnancy or infantile age and very early onset (VEO) IBD.DesignIn this cohort study of 827 239 children born in Sweden between 2006 and 2013, we examined the link between exposure to systemic antibiotics and VEO-IBD (diagnosis <6 years of age), using Cox proportional hazard regression models. Information on antibiotics and IBD was retrieved from the nationwide population-based Swedish Prescribed Drug Register and the National Patient Register. We specifically examined potential confounding from parental IBD and gastroenteritis.ResultsChildren exposed to antibiotics during pregnancy were at increased risk of IBD compared with general population controls (adjusted HR (aHR) 1.93; 95% CI 1.06 to 3.50). Corresponding aHRs were 2.48 (95% CI 1.01 to 6.08) for CD and 1.25 (95% CI 0.47 to 3.26) for UC, respectively. For antibiotics in infantile age, the aHR for IBD was 1.11 (95% CI 0.57 to 2.15); for CD 0.72 (95% CI 0.27 to 1.92) and 1.23 (95% CI 0.45 to 3.39) for UC. Excluding children with gastroenteritis 12 months prior to the first IBD diagnosis retained similar aHR for antibiotics during pregnancy and CD, while the association no longer remained significant for IBD.ConclusionWe found that exposure to antibiotics during pregnancy, but not in infantile age, is associated with an increased risk of VEO-IBD regardless of gastroenteritis. The risk increase for exposure in pregnancy may be due to changes in the microbiota.
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Pavanello, P. M., P. Moras, G. Cendon, A. Tommasini, and S. Martelossi. "P093 Very early onset IBD: the importance of genetic screening." Digestive and Liver Disease 50, no. 4 (October 2018): e391. http://dx.doi.org/10.1016/s1590-8658(18)31092-2.
Full textDissertations / Theses on the topic "Very early onset IBD"
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Gaffney, Jessica. "The Benefits of Nutritional Treatments for Very Early Onset Inflammatory Bowel Disease (VEO-IBD) Patients." Scholarship @ Claremont, 2018. http://scholarship.claremont.edu/cmc_theses/1808.
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Inflammatory bowel disease (IBD) is a group of diseases in the gastrointestinal field that is becoming more commonly diagnosed among patients. IBD is usually characterized as a group of chronic diseases affecting the digestive tract that are caused by a multitude of factors including genetic, environmental, mucosal, and immune contributors. One of the subgroups of IBD is very early onset IBD (VEO-IBD), which is diagnosed in children under the age of 6. VEO-IBD is a rare yet unique case of IBD, which reports poor response to conventional adult-onset IBD treatments. Nutrition is an alternative treatment that can decrease inflammation and allow IBD patients to achieve remission. This proposed study explores whether formula-based diets, which have been strongly correlated with reduced IBD inflammation and symptoms, will impact VEO-IBD patients. A mouse model will be set up with one control group of healthy mice and two variable groups of VEO-IBD characteristic mice, with 60 mice in each group. The mice will be fed three formula-based dietary regiments including camel’s milk, Pediasure, and liquid vitamin D3 twice daily for 90 days. All three of these dietary treatments have been proven to decrease inflammation in adult-onset IBD patients. The inflammation and severity of symptoms will be monitored every two days through Western blotting protein levels of IL10 (a genetic marker for VEO-IBD) and physiological tests. If nutrition has a positive effect on the VEO-IBD induced mice, then a decrease in inflammation and VEO-IBD symptoms should be observed. This study is vital to future treatment plans by determining the influence of formula-based diets in alleviating symptoms of VEO-IBD patients.
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Coulon, Nathalie. "Liens entre troubles du spectre autistique et schizophrénies précoces ?" Thesis, Paris 6, 2015. http://www.theses.fr/2015PA066430/document.
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Contexte : Autisme, trouble du spectre autistique, schizophrénies précoces voire même très précoces (SDTP)... autant de termes utilisés de nos jours! Même si les classifications restent aujourd'hui catégorielles, les travaux sont cependant croissants pour approfondir et comprendre un éventuel lien entre les troubles du spectre autistique et schizophrénique, et notamment un lien entre les troubles du spectre autistique (TSA) et les schizophrénies précoces. Objectif : Clarifier les liens cliniques et biologiques entre TSA et schizophrénies à début précoce (avant 18 ans) et même très précoce (avant 13 ans). Méthodologie: Population de 62 sujets, divisés en trois groupes selon l'âge de début de la pathologie schizophrénique : strictement avant 13 ans (Very Early Onset Schizophrenia, VEOS), entre 13 et 18 ans (Early Onset Schizophrenia, EOS) et supérieur ou égal à 18 ans (Adult Onset Schizophrenia, AOS). Pour chaque groupe, 2 évaluations cliniques sont effectuées : recherche d'antécédents prémorbides autistiques avec l'ADI-R (Autism Diagnostic Interview-Revised); l'autre phénotypique avec MINI (Mini International Neuropsychiatric Interview), BPRS (Brief Psychiatric Rating Scale), PANSS (Positive And Negative Symptoms Scale for schizophrenia), STAI (State Trait Anxiety Inventory), TAS (Toronto Alexithymia Scale) et NSS (Neurological Soft Signs). L'analyse biologique est basée sur des mesures du cycle du cortisol salivaire (jour 1: 8h00; 11h00; 16h00; 24h00 et jour 2 :8h00), afin d'évaluer la réponse au stress de l'axe hypothalamo-hypophyso-surrenalien. Résultats: un gradient des troubles VEOS > EOS > AOS apparaît. Plus la schizophrénie semble débuter tôt et plus sont retrouvés des antécédents prémorbides autistiques et une réactivité au stress, réponse également exacerbée chez les apparentés. Conclusion: Un lien clinico-biologique apparaît donc entre SDTP et TSA, avec notamment des troubles cliniques déjà présents avant trois ans et des anomalies de la réponse au stress. Les schizophrénies à début très précoce sont-elles ainsi à distinguer dans le grand ensemble des schizophrénies? En tout cas, un diagnostic à mieux connaître, afin de mieux le prendre en charge et de mieux accompagner patients et familleContext : Autism spectrum disorders (ASD) , early onset schizophrenia (EOS) or even very early onset schizophrenia (VEOS)... so many terms used these days! Although today, classifications are categorical, work is however increasing to deepen and understand a possible link between ASD and schizophrenia spectrum disorders, and especially a link between ASD and early onset schizophrenia. Objective : To clarify clinical and biological links between ASD and EOS (before age 18) and especially links between ASD and VEOS (before age 13). Méthod: 62 subjects, divided into three groups according to age at onset of schizophrenia : strictly before age 13 (VEOS ), between age 13 and 18 (EOS) and after 18 (Adult Onset Schizophrenia, AOS). For each group, two clinical evaluations are assessed: search early symptoms of autism with the ADI-R (Autism Diagnostic Interview-Revised) and phenotypic evaluation with MINI (Mini International Neuropsychiatric Interview), BPRS (Brief Psychiatric Rating Scale), PANSS (Positive And Negative Symptoms Scale for schizophrenia), STAI (State Trait Anxiety Inventory), TAS (Toronto Alexithymia Scale) et NSS (Neurological Soft Signs). Biological analysis is based on salivary cortisol measurements, collected during a 24-h period (0800h-day 1, 1100h, 1600h, 2400h, 0800h-day2), in order to evaluate the stress response of the hypothalamic-pituitary-adrenal axis. Résults: VEOS symptoms > EOS symptoms > AOS symtoms. The earlier the schizophrenia is and the more present premorbid history of autism is and the more abnormal stress response is (abnormal stress response also present in relatives). Conclusion: A clinico-biological link appears between VEOS and ASD, with early symtoms of autism before thirty six months and stress response abnormalities. Are VEOS different from schizophrenia? Anyway, a diagnosis to know better in order to improve patients and families cares
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Dor-Nedonsel, Emmanuelle. "Les schizophrénies précoces : épidémiologie, exploration clinique et neurocognitive, phénotypage de familles d'enfants avec schizophrénie et autisme." Thesis, Université Côte d'Azur (ComUE), 2017. http://www.theses.fr/2017AZUR4093/document.
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La schizophrénie précoce (SP), trouble rare (~0,01%) du neurodéveloppement est décrite sous deux formes : la schizophrénie très précoce, avant 13 ans et celle de l’adolescence entre 13 et 18 ans. Le diagnostic complexe à poser et les méconnaissances de la SP font supposer qu’elle est sous diagnostiquée et que les propositions thérapeutiques et de prise en charge sont encore peu spécifiques. Nous avons mené une première étude épidémiologique de prévalence pour : (1) évaluer le taux de sujets répondant au diagnostic de SP dans un échantillon de 302 enfants issus des structures médico-sociales et sanitaires en région PACA ; (2) caractériser sur le plan clinique et neurocognitif les enfants avec SP ; (3) évaluer le taux d’enfants répondant à la fois aux diagnostics de SP et de Troubles du Spectre Autistique (TSA). Puis, une deuxième étude, du sous-groupe d’enfants ayant une comorbidité SP et TSA, a exploré la psychopathologie, la personnalité et les capacités cognitives des membres du 1er degré des familles de ces enfants. Les résultats sont : un taux de 8,9% de patients avec SP, dont 59,3% de garçons âgés de 12,4 ans en moyenne (ET=3,2), avec un Quotient Intellectuel moyen de 72,5 (ET=21,4), des hallucinations (82,8%), des symptômes négatifs (70%), une comorbidité avec un TSA (41.2%) et des traitements neuroleptiques (51,5%). L’étude des familles a montré que les mères ont plus de troubles de la personnalité, de traits autistiques, de pathologies psychiatriques et un QI moyen plus faible. La constitution et le phénotypage de cette cohorte a permis dans les suites de ce travail, de lancer une étude génétique familiale avec séquençage d’exome des parents et des enfants avec SPEarly Onset Schizophrenia (EOS), a rare neurodevelopmental disorder (≈0.01%) is categorized into two types: Very Early Onset Schizophrenia, before age 13 and Adolescent Schizophrenia between ages 13 and 18. This diagnosis is a difficult one to make and considering the lack of knowledge on EOS, we can presume that it is in fact under-diagnosed and that our treatment and management options are still not very specific. We conducted a first epidemiological prevalence study consisted in evaluating: (1) the rate of subjects with EOS diagnostic criteria among 302 children who receive care in psychosocial and sanitary care facilities in the PACA region; (2) the clinical and neurocognitive characteristics of those children with EOS; (3) the rate of children with both EOS and ASD criteria within the same sample. In a second study, focusing on a subgroup of children with comorbid EOS and ASD, we analyzed first-degree relatives from a psychopathological, personality and cognitive viewpoint. The results are: a high rate of patients (8.9%) with an EOS diagnosis, a male gender majority (59.3%), an average age of 12.4 (SD=3.2), an average intelligence quotient of 72.5 (SD=21.4), a rate of 82.8% of subjects with hallucinations, 70% with EOS negative symptoms, 41.2% with comorbid autism, and 51.5% with antipsychotic medications. The study of family members shows that mothers have a higher rate of personality disorders, autistic traits and psychiatric disorders, as well as a lower average IQ. The creation and the characterization of a phenotype of this cohort have led to a family-genetic analysis based on exome sequencing in the parents and children with EOS following this study
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Thery, Jean-Christophe. "Détection et contribution de variants rares constitutionnels dans les formes précoces de cancer du sein : Apports du Séquençage de Nouvelle Génération. Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome Germline mutations of inhibins in early-onset ovarian epithelial tumors." Thesis, Normandie, 2019. http://www.theses.fr/2019NORMR111.
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Si le syndrome de prédisposition héréditaire au cancer du sein et de l’ovaire constitue uneentité reconnue et supportée par l’identification de variations délétères sur les gènes BRCA1,BRCA2, PALB2, RAD51C et RAD51D, et si le cancer du sein de la femme jeune (avant 31 ans) estintégré dans le spectre du syndrome de Li-Fraumeni lié aux altérations de TP53, une large fractiondes patientes adressées en consultation d’oncogénétique pour ce motif demeure orpheline dediagnostic moléculaire. La connaissance du génome humain et l’avènement du séquençage denouvelle génération ont permis des avancées considérables, notamment dans l’observation de latrès grande variabilité du génome et de la survenue de variations de novo.Nous avons ainsi appliqué ces outils et ces concepts au cancer du sein de la femmejeune, afin de tenter d’identifier de nouveaux déterminants moléculaires constitutionnels. Dansune première approche basée sur la réalisation d’exomes soustractifs pour des trios parents- enfant, nous avons recherché des variants de novo délétères et effectivement identifié un variantrare de novo et délétère sur le gène INHBA dans le contexte d’un cancer de l’ovaire chez unejeune femme. Cette approche n’a cependant pu être reproduite dans le contexte d’un cancer dusein précoce. Nous avons également tenté une approche par exomes comparatifs dans unefamille remarquable avec survenue de cancers du sein précoces sur trois générations, sansvariation délétère identifiée commune à ces individus. Dans une seconde approche basée surun panel de 201 gènes impliqués dans la cancérogenèse, nous avons tenté d’identifier desvariants délétères ou des enrichissements en variants rares dans une cohorte de cancers du seinprécoces. Nous avons identifié une variation en mosaïque de TP53, sans autre détection devariations formellement délétères parmi 30 patientes atteintes de cancers du sein avant 31 ans.Un enrichissement non significatif en variants rares affectant les voies de la réparation de l’ADN aété néanmoins mis en évidence, suggérant des études plus larges ciblant ces voies. Enfin, nousavons recherché spécifiquement des variants de novo en mosaïque de TP53 dans lecontexte du cancer du sein de la femme jeune ou de cancers pédiatriques, et démontré ainsi laprévalence relativement importante de ces évènements. Ces observations supportent la nécessitéd’user d’un séquençage de forte profondeur et de ne pas restreindre les indications d’analyses deTP53 aux seules situations familiales évocatricesDespite previous identifications of deleterious variants on BRCA1, BRCA2, PALB2,RAD51C and RAD51D supporting the hereditary breast and ovarian cancer syndrom, and thecontribution of TP53 mutations in very early-onset breast carcinomas, a large fraction of patientssuggestive of Medelian disease remains without molecular diagnosis. In the past years,sequencing of the Human genome and next-generation sequencing offered major advances, inparticular in the field of genome variability and de novo variants.We applied these new tools and concepts in the context of very early-onset breastcarcinomas, in order to identify new molecular germline determinants. First, we dealt withsoustractive exomes, in parents - child trios, and succeed in the identification of a deleterious denovo variant in the INHBA gene, in the context of very early-onset of ovarian cancer. However, wehave failed with this approach in a second trio with an index affected by early-onset breastcarcinoma. We also tried a comparative exome sequencing approach in a remarkable pedigreewith multiple probands affected by early-onset breast carcinomas, without identification of ashared deleterious variant. Secondly, we used a home-made 201 genes panel assuming thatgenes somatically affected in cancers might be altered in inherited conditions. We analyzed acohort of very early-onset breast carcinomas, and identified a mosaic TP53 variation. Moreover,we identified some interesting candidate variants and observed a non-significant trend of rarevariants enrichment in the DNA repair pathway. Finally, we designed a specific TP53 gene capturein order to detect mosaic variants in pediatric cancers and very early-onset breast carcinomas.We confirmed the clinically significant prevalence of these alterations, which support TP53analysis in these conditions even in sporadic presentations
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Duclaux-Loras, Rémi. "Identification of two new genes causative of monogenic intestinal disorders Deficient function of the UNC45A-HSP90 chaperone complex impairs MYO5B expression in enterocytes and causes microvillus inclusion disease Biallelic loss-of-function mutations in IPO8 cause Loeys-Dietz-like syndrome and severe developmental defects in zebrafish." Thesis, Sorbonne Paris Cité, 2018. http://www.theses.fr/2018USPCB087.
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L'équipe de recherche, au sein de laquelle je réalise ma thèse, s'attache à disséquer les maladies génétiques mendéliennes responsables de pathologies intestinales sévères. L'étude de ces maladies présente deux objectifs. D'une part, étudier au plan moléculaire les mécanismes constituants la barrière intestinale. D'autre part, proposer de nouveaux diagnostics aux patients mais également évaluer de nouvelles cibles thérapeutiques. Ainsi, j'ai participé dans un premier temps à l'étude de données obtenues par séquençage de gênes cibles (Targeted Next Generation Sequencing) au sein d'une cohorte de patients présentant une inflammation intestinale à début précoce (avant 6 ans), afin de rechercher les maladies intestinales monogéniques déjà décrites dans la littérature. En cas de résultat négatif nous réalisions une analyse d'exome (Whole Exome Sequencing) afin d'identifier de nouveaux gênes candidats. La suite de mon travail a consisté à valider au plan fonctionnel la pathogénie des mutations retrouvées dans deux nouveaux gênes. Ainsi, j'ai étudié le mécanisme physiopathologique d'une mutation faux-sens, homozygote sur le gène UNC45A, chez une patiente présentant une diarrhée congénitale sévère néonatale. Puis j'ai validé les conséquences fonctionnelles d'une mutation responsable d'un codon stop précoce sur le gène IPO8. Cette mutation a été retrouvé à l'état homozygote chez un frère et une sœur qui présentaient une inflammation intestinale précoce associées à des symptômes évocateurs d'un syndrome de Loeys-Dietz. Du fait du rôle décrit d'IPO8 dans le transport nucléaire de Smad3, notre objectif a été de mettre en évidence un dysfonctionnement de la voie du TGFbéta chez nos patientsMy PhD thesis project is part of the efforts led by our team to dissect Mendelian diseases causing severe intestinal disorders with the scientific goal to get insight into the molecular mechanisms of the human gut barrier and with the medical goal to improve the diagnosis and care of these rare but life-threatening diseases. In the first part of my thesis, I have participated to the analysis of data generated by targeted new generation sequencing or by whole exome sequencing in order to identify known monogenic intestinal disorders and next to identify new candidate genes. In the second part of my thesis, I have led functional studies to validate mutations in two new candidate genes. On the one hand, I am analysing the mechanism of the dramatic congenital diarrheoa observed in a girl carrying an homozygous missense mutation in UNC45, a gene very recently associated with congenital diarrhoea. On the other hand, I am characterizing the functional consequences of a homozygous mutation introducing an early stop codon in IPO8 in two siblings displaying a complex syndrome including intestinal inflammation and symptoms evocative of Loeys-Dietz syndrome. Given previous indication that IPO8 may be involved in the nuclear trafficking of Smad3, we aim at demonstrating impairment of signalling downstream TGFbeta
Books on the topic "Very early onset IBD"
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Beed, Martin, Richard Sherman, and Ravi Mahajan. Airway. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199696277.003.0002.
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Airway obstructionComplications at intubationAirway/facial traumaAirway/facial burnsAirway infectionsAirway foreign bodiesAirway haemorrhageEndotracheal tube complicationsTracheostomy complicationsAn obstructed airway is a medical emergency requiring immediate treatment. Where possible, patients at risk should be identified early so that airway obstruction can be prevented. Although upper airway obstruction may be gradual in onset it more commonly progresses very rapidly. Continuous assessment is required to identify signs of impending airway obstruction....
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Lleó, Alberto, and Rafael Blesa. Clinical course of Alzheimer’s disease. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198779803.003.0004.
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Alzheimer’s disease (AD) is an age-related neurodegenerative disorder, with onset usually in late life, characterized by progressive cognitive impairment, a variety of behavioural symptoms, and impairment in the activities of daily living. The initial symptom in typical AD is episodic memory loss, which reflects hippocampal dysfunction. The memory deficits are very characteristic with low recall performance despite retrieval facilitations with cueing. These initial deficits can be identified by appropriate cognitive tests. Behavioural symptoms can be present at early stages of the disease (even in pre-clinical states), although the frequency increases as the disease progresses. In the past decade there has been a growing interest in characterizing these pre-clinical and prodromal stages as treatments are expected to be more effective in these phases.
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Faraone, Stephen V., Pradeep G. Bhide, and Joseph Biederman. Neurobiology of Attention Deficit Hyperactivity Disorder. Edited by Dennis S. Charney, Eric J. Nestler, Pamela Sklar, and Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0064.
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Attention deficit hyperactivity disorder (ADHD) is a prevalent, early-onset and persistent disorder of inattention, hyperactivity, and impulsivity. The mechanisms of action of ADHD medications, neuroimaging studies, and studies of monoamine systems and animal models suggest that dysregulation of catecholaminergic neurotransmission in cerebellar-corticostriatal circuits plays a key role in the pathophysiology of ADHD. The efficacy of ADHD medications likely arises from their differing profile of effects on (a) dopaminergic and noradrenergic systems and (b) the localization of these effects in prefrontal cortex and striatum. ADHD has a very high heritability, and although molecular genetic studies have found no causal common DNA variants yet, they have found strong evidence that rare duplications and deletions are risk factors for ADHD. Environmental risk factors, especially those that impact early neurodevelopment (i.e., exposure to cigarette smoking and alcohol during pregnancy), also influence susceptibility to ADHD.
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Weninger, Bernhard, and Lee Clare. 6600–6000 cal BC Abrupt Climate Change and Neolithic Dispersal from West Asia. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780199329199.003.0003.
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Recent advances in palaeoclimatological and meteorological research, combined with new radiocarbon data from western Anatolia and southeast Europe, lead us to formulate a new hypothesis for the temporal and spatial dispersal of Neolithic lifeways from their core areas of genesis. The new hypothesis, which we term the Abrupt Climate Change (ACC) Neolithization Model, incorporates a number of insights from modern vulnerability theory. We focus here on the Late Neolithic (Anatolian terminology), which is followed in the Balkans by the Early Neolithic (European terminology). From high-resolution 14C-case studies, we infer an initial (very rapid) west-directed movement of early farming communities out of the Central Anatolian Plateau towards the Turkish Aegean littoral. This move is exactly in phase (decadal scale) with the onset of ACC conditions (~6600 cal BC). Upon reaching the Aegean coastline, Neolithic dispersal comes to a halt. It is not until some 500 years later—that is, at the close of cumulative ACC and 8.2 ka cal BP Hudson Bay cold conditions—that there occurs a second abrupt movement of farming communities into Southeast Europe, as far as the Pannonian Basin. The spread of early farming from Anatolia into eastern Central Europe is best explained as Neolithic communities’ mitigation of biophysical and social vulnerability to natural (climate-induced) hazards.
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Scarpa, Raffaele, Francesco Caso, Luisa Costa, Rosario Peluso, Nicola Matteo Dario Di Minno, and Antonio Del Puente. Peripheral arthritis. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198737582.003.0010.
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Clinical presentation of peripheral arthritis in patients with psoriatic arthritis (PsA), has been described by Moll and Wright who classified it into four subsets: symmetrical polyarthritis, asymmetrical oligoarthritis, distal interphalangeal (DIP) arthritis and arthritis mutilans. In the symmetrical polyarthritis subset, the distribution of articular involvement is similar to rheumatoid arthritis and this has for many years justified the inappropriate use of the terminology ‘rheumatoid-like form’, at present completely abandoned. Oligoarthritis is characterized by asymmetrical involvement of few joints (less than four), which include scattered DIP or proximal interphalangeal (PIP) joints and/or metatarsophalangeal joints. DIP arthritis may occur with symmetrical or asymmetrical features, and it is often in strict association with onycopathy. The arthritis mutilans pattern is characterized by osteolysis of phalanx and metacarpals and it is very rare, occurring in less than 1% of patients with established form of arthritis. In 15-20% of the cases the arthritis may precede the onset of the psoriatic skin rash. Consequently, psoriatic arthritis ‘sine psoriasis’ should not be considered a rare clinical finding. In this subset articular involvement is clinically expressed, while cutaneous is apparently absent. Laboratory tests and imaging are relevant for differential diagnosis which in some presentations may represent a diagnostic challenge. The outcome of peripheral patterns of PsA patients is related not only to the spectrum of peripheral phenotypes, but also to early diagnosis, and metabolic aspects, which may affect excess in morbidity and mortality.
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Slater, Jerome. Mythologies Without End. Oxford University Press, 2020. http://dx.doi.org/10.1093/oso/9780190459086.001.0001.
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Every nation has narratives or stories it tells itself about its history but which typically contain factually false or misleading mythologies that often result in devastating consequences for itself and for others. In the case of Israel and its indispensable ally, the United States, the central mythology is “the Arabs never miss an opportunity to miss an opportunity,” as the Israeli diplomat Abba Eban famously said in a 1973 statement that has been widely quoted ever since. However, the historical truth is very nearly the converse: it is Israel and the United States that have repeatedly lost or deliberately dismissed many opportunities to reach fair compromise settlements of the Arab-Israeli and Israeli-Palestinian conflicts. The book reexamines the entire history of the conflict from its onset at the end of World War I through today. Part I begins with a reconsideration of Zionism and then examines the origins and early years of the Arab-Israeli state conflict. One chapter is devoted to the question of what accounts for the nearly unconditional US support of Israel throughout the entire conflict. Part II focuses on war and peace in the Arab-Israeli state conflict from 1948 through today, arguing that all the major wars—in 1948, 1956, 1967, 1973—could and should have been avoided. This section also includes an examination of the Cold War and its impact on the Arab-Israeli conflict. Part III covers the history of the Israeli-Palestinian conflict from 1917 through today, and examines the prospects for a two-state or other settlement of the conflict.
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Haymann, Jean-Philippe, and Francois Lionnet. The patient with sickle cell anaemia. Edited by Giuseppe Remuzzi. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0167.
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In sickle cell anaemia (SCA) a single mutation in the haemoglobin beta-globin gene is responsible for a pleomorphic phenotype leading to acute and chronic life-threatening complications. Healthcare management programmes, patient and family education, infection prophylaxis (especially in childhood), and long-term treatment for some patients (such as hydroxyurea) have significantly improved survival, giving rise to some new long-term issues.Sickle cell-associated nephropathy (SCAN) leads in some cases to chronic renal failure with a significant impact on survival. SCAN is characterized by an increased effective plasma renal flow and glomerular filtration rate, glomerular hypertrophy, and damaged vasa recta system leading to albuminuria and impaired urinary concentration.Early onset of hyperfiltration occurs in 60% of SCA patients often associated with microalbuminuria. SCAN risk factors are still under investigation, but may be related to chronic haemolysis at an early time point. Other lesions in patients with sickle cell anaemia include papillary necrosis, and recurrent acute kidney injury in association with crises or infections.ACEI are recommended if there is proteinuria. There is no current agreement on whether angiotensin-converting enzyme inhibitors (ACEI) should be introduced earlier, but systematic screening for microalbuminuria and hypertension, and avoidance of nephrotoxic agents are strongly advised.Patients with sickle cell trait (carriers for sickle cell anaemia) are prone to microscopic haematuria and abnormalities of the vasa recta have been described. A very rare tumour, renal medullary carcinoma, is largely restricted to this group (in whom it is still extremely rare). Increased risk of other renal problems is still largely hypothetical rather than proven.The prevalence of nephropathies in other sickle cell diseases (in particular haemoglobin SC disease) is much lower.
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Cui, Zhao, Neil Turner, and Ming-hui Zhao. Antiglomerular basement membrane disease. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0073_update_001.
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Cyclophosphamide and plasma exchange are the standard of care in rapidly progressive glomerulonephritis or lung haemorrhage caused by antiglomerular basement membrane (anti-GBM) disease, and it is unusual to encounter patients at earlier stages. Steroids are universally used in addition. There is some evidence that plasma exchange may not be a critical part of treatment at an earlier stage. There is no more than anecdotal evidence for other therapies. Slower-onset therapies such as antibodies to B cells are rarely appropriate. If untreated, patients with severe anti-GBM disease will not recover renal function and are at risk of pulmonary haemorrhage. Evidence for the pathogenicity of circulating anti-GBM antibodies provides rationale for removal of circulating antibodies as rapidly as possible, whilst simultaneously inhibiting their synthesis. This was behind the introduction of the combination of plasma exchange with immunosuppressive therapy in mid 1970s, which revolutionized outcomes. Plasmapheresis aims to remove circulating pathogenic antibodies against GBM and possibly other mediators; cyclophosphamide prevents further synthesis of autoantibodies; and steroids act as anti-inflammatory agents to attenuate the glomerular inflammatory response initiated by anti-GBM antibodies. It is clear from experimental models and occasional observations in man that the anti-cell mediated effects of current therapies are important too. Outcomes vary, but in general patient survival is now good, while renal survival remains poor, in many series less than 50% at 1 year. Treatment is toxic and after an early peak in deaths due to pulmonary haemorrhage, secondary infections are the next threat. It may therefore be best not to immunosuppress patients with a very poor renal prognosis who appear to be at low risk of pulmonary haemorrhage. Treatment can usually be curtailed after 3 months without recurrence. ANCA and anti-GBM antibodies occur together in some patients. This is typically an older group which often has features of vasculitis, and the anti-GBM response may often be secondary. Longer treatment as for small vessel vasculitis is usually indicated.
Book chapters on the topic "Very early onset IBD"
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Arrigo, Serena, Sara Signa, and Arrigo Barabino. "Early Onset IBD: Endoscopic Features." In Endoscopy in Pediatric Inflammatory Bowel Disease, 31–37. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-61249-2_4.
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Offit, Paul A., Anne Snow, Thomas Fernandez, Laurie Cardona, Elena L. Grigorenko, Carolyn A. Doyle, Christopher J. McDougle, et al. "Very Early-Onset Schizophrenia." In Encyclopedia of Autism Spectrum Disorders, 3251. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4419-1698-3_101519.
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Pentel, Paul R., Mark G. LeSage, Mark G. LeSage, Paul R. Pentel, Lawrence H. Price, Tomasz Schneider, Maria-Inés López-Ibor, et al. "Very Early Onset Schizophrenia (VEOS)." In Encyclopedia of Psychopharmacology, 1365. Berlin, Heidelberg: Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/978-3-540-68706-1_3656.
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Muise, Aleixo M. "Very Early Onset Inflammatory Bowel Disease (VEOIBD)." In Textbook of Autoinflammation, 383–404. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-319-98605-0_21.
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Kelsen, Judith, and Kathleen Sullivan. "Immune Dysregulation Associated with Very Early-Onset Inflammatory Bowel Disease." In Pediatric Inflammatory Bowel Disease, 55–67. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-49215-5_5.
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Kelsen, Judith R., Trusha Patel, and Kathleen Sullivan. "Immune Dysregulation Associated with Very Early-Onset Inflammatory Bowel Disease." In Pediatric Inflammatory Bowel Disease, 61–74. Cham: Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-14744-9_5.
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"Very Early-Onset Schizophrenia." In Encyclopedia of Autism Spectrum Disorders, 5039. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-319-91280-6_301786.
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Snowling, Margaret J. "4. Dyslexia genes and the environment—a class act?" In Dyslexia: A Very Short Introduction, 59–77. Oxford University Press, 2019. http://dx.doi.org/10.1093/actrade/9780198818304.003.0004.
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‘Dyslexia genes and the environment—a class act?’ considers the biological bases of dyslexia. Is dyslexia heritable? It has been known for many years that dyslexia runs in families. Like other neurodevelopmental disorders, dyslexia has an early onset in childhood, is persistent, and is likely to be heritable. The genetics of dyslexia is a complicated issue and there is still a long way to go before we fully understand the mechanisms that are involved. The role of the environment in the genesis of dyslexia is considered and some of the factors that can potentially moderate its impact. These include: the home literacy environment, the effects of school, teaching, and learning; and gene–environment correlations.
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Woźniak, Tomasz. "Zaburzenia mowy dzieci i młodzieży ze schizofrenią." In Problemy badawcze i diagnostyczne w logopedii. Wydawnictwo Uniwersytetu Łódzkiego, 2016. http://dx.doi.org/10.18778/8088-476-2.13.
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The article describes language disorders occur in children with very early onset schizophrenia in comparison with the speech pathology diagnosed in adolescents and adults with schizophrenia. The conclusions of the study are applicable in programming speech‑language therapy.
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Matthews, David, Usha Ayyagari, and Pamela Dyson. "Clinical features, lifestyle management, and glycaemic targets in type 2 diabetes mellitus." In Oxford Textbook of Endocrinology and Diabetes, 1774–79. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199235292.003.1368.
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Type 2 diabetes—previously named ‘maturity-onset diabetes’ or ‘non-insulin-dependent diabetes mellitus’—was, in the past, generally diagnosed in individuals over the age of 40 years old, but, with the modern epidemic, is found in increasing numbers in younger people, including teenagers and children. It is strongly associated with overweight and obese individuals, and tends to run in families. This feature may be environmental, since being overweight also runs in families, but there are specific genes for obesity (1). Type 2 diabetes that occurs in younger individuals with a very strong family history of early-onset diabetes may be the autosomally dominant ‘maturity-onset diabetes of the young’ (MODY) (see Chapter 13.3.4). In an environment where there is a pandemic of diabetes, one should maintain a very high level of suspicion of diabetes in those who are overweight—in the USA, the prevalence of type 2 diabetes is running at 8% of the population, and, in South India and Sri Lanka, at up to 18% in urban communities (2).
Conference papers on the topic "Very early onset IBD"
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Mardare, Roxana, Anita Modi, Keith Lindley, Meena Ashworth, Hazel Rollins, and Nisha Ramkumar. "P215 Non – caseating splenic granulomas as the first manifestation of very early onset inflammatory bowel disease (VEO-IBD)." In 8th Europaediatrics Congress jointly held with, The 13th National Congress of Romanian Pediatrics Society, 7–10 June 2017, Palace of Parliament, Romania, Paediatrics building bridges across Europe. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-313273.303.
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Tamai, H., Y. Kaneko, and T. Takeuchi. "AB1303 Analysis of symptoms in very early phase in patients with adult-onset still’s disease." In Annual European Congress of Rheumatology, EULAR 2018, Amsterdam, 13–16 June 2018. BMJ Publishing Group Ltd and European League Against Rheumatism, 2018. http://dx.doi.org/10.1136/annrheumdis-2018-eular.3376.
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Tamai, H., Y. Kaneko, N. Nishina, J. Kikuchi, and T. Takeuchi. "THU0560 Development of symptoms in very early phase in patient with adult onset still disease." In Annual European Congress of Rheumatology, 14–17 June, 2017. BMJ Publishing Group Ltd and European League Against Rheumatism, 2017. http://dx.doi.org/10.1136/annrheumdis-2017-eular.4212.
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Hugues, B., S. Hilliquin, S. Mitrovic, L. Gossec, and B. Fautrel. "OP0011 Does a very early therapeutic intervention in very early arthritis / pre-rheumatoid arthritis patients prevent the onset of rheumatoid arthritis: a systematic review and metanalysis." In Annual European Congress of Rheumatology, 14–17 June, 2017. BMJ Publishing Group Ltd and European League Against Rheumatism, 2017. http://dx.doi.org/10.1136/annrheumdis-2017-eular.5323.
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Wallois, Fabrice. "At the Very Onset of Language Network : A Combined Electrical and Optical Imaging (HD-EEG/fNIRS) Approach in Early Premies." In Biomedical Optics. Washington, D.C.: OSA, 2014. http://dx.doi.org/10.1364/biomed.2014.bw2b.1.
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Cannavan, Marina C., Bianca CG Lisboa, Maria M. Brentani, Edenir I. Palmero, Ghyslaine Martel-Planche, Pierre Hainaut, Dirce M. Carraro, and Maria Isabel W. Achatz. "Abstract 5598: Germline TP53 mutation in very early onset breast cancer patients without BRCA1 and BRCA2 mutation in Brazilian population." In Proceedings: AACR 102nd Annual Meeting 2011‐‐ Apr 2‐6, 2011; Orlando, FL. American Association for Cancer Research, 2011. http://dx.doi.org/10.1158/1538-7445.am2011-5598.
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Maffia, Marta, Rosa De Micco, Alessandro Tessitore, and Anna De Meo. "Acoustic characteristics of Italian Parkinsonian speech: a study on early-stage patients." In 11th International Conference of Experimental Linguistics. ExLing Society, 2020. http://dx.doi.org/10.36505/exling-2020/11/0029/000444.
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Parkinson’s Disease (PD) is a neurological illness which also has effects on speech production, resulting in segmental and suprasegmental abnormalities. The aim of the current study is to test the validity of two acoustic parameters - %V and VtoV - for the detection of rhythmical variation in early-stage PD speech, in comparison to healthy speech. 40 Italian native speakers were enrolled in the research, 20 early-stage PD subjects and 20 neurologically healthy and matched controls, and a corpus of read speech was collected. The results of voice analysis confirmed an alteration of vocalic duration and %V in PD productions. In particular, %V could be a reliable cue for PD speech characterization, even at the very early onset of the disease.
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Caldas, Natasha Garcia, Karoline Evangelista Souza, Thais Karla Vivan, Vinicius Xavier Santana, Mauro Pinto Passos, and Natalia Polidorio. "Abstract PS7-81: Clinical and pathological features of very early-onset breast cancer and treatment challenges on public health care system at a cancer center in Brazil." In Abstracts: 2020 San Antonio Breast Cancer Virtual Symposium; December 8-11, 2020; San Antonio, Texas. American Association for Cancer Research, 2021. http://dx.doi.org/10.1158/1538-7445.sabcs20-ps7-81.
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Makhsous, Mohsen, Atek Pandya, Mauli Modi, Briana Reprogle, Christopher C. Chadwick, and Fang Lin. "Serum and Urine Biomarker Elevation Indicating the Onset of Deep Tissue Injury as Examined on a Rat Model." In ASME 2010 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2010. http://dx.doi.org/10.1115/sbc2010-19313.
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Deep tissue injury (DTI) is a serious pressure ulcer (PU) which initiates in deep tissue, mainly muscle, and progresses rapidly to a full-thickness wound [1, 2]. Therefore, an early indication should help in increasing awareness and providing prompt intervention to prevent it from progressing to an open wound, which is susceptible to infection and typically needs prolonged and aggressive care. However, the diagnosis of DTI is currently still vague at best[2] with only subjective tools. This situation calls for tools for objectively sensing the tissue changes while the skin is still intact, to allow development of evidence-based protocols for early diagnosis and treatment. Since DTI initiates from deep muscle layer around a bony prominence, a tool that sensitive to muscle damage may have the potential to objectively sense the onset of a DTI in clinical application. A number of molecular biomarkers have been reported in the literature as suitable for indicating muscle damage. Some of the most promising biomarkers are myoglobin and heart-type fatty acid binding protein (H-FABP). Myoglobin and H-FABP are two relatively small muscle proteins that show a very fast release time after skeletal muscle damage/necrosis when no myocardial infarction or damage is present; therefore, they may be used to identify skeletal muscle injury in DTI formation. The objective of this study was to initially test whether myoglobin and H-FABP in serum and urine respond quickly to pressure induced deep tissue injury on a rat model. It is expected that knowledge gained from this study may lead to a promising new methodology to sense the visually invisible DTI.
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Herzog, James P., Jason Hanlin, Stephan W. Wegerich, and Alan D. Wilks. "High Performance Condition Monitoring of Aircraft Engines." In ASME Turbo Expo 2005: Power for Land, Sea, and Air. ASMEDC, 2005. http://dx.doi.org/10.1115/gt2005-68485.
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A similarity-based modeling (SBM) technique is demonstrated that provides very early annunciation of the onset of gas path faults in aircraft engines. This powerful approach is shown to provide high fidelity estimates for real-time condition monitoring of aircraft engine signals. These estimates are used to detect the onset of changes in the inter-relationship between the various signals using a sophisticated set of built-in algorithms and tools. The ability of the SBM software to reliably detect subtle changes in signal behavior that are characteristic of a developing anomaly is coupled with a diagnostic rules engine to enable a rapid and robust fault recognition capability. The SBM software operates using a set of algorithms that construct a multivariate nonparametric model of the traditional monitoring sensors (pressure transducers, thermocouples, flow meters, etc.) present in the system. This model is used to generate real-time estimates of sensor values that represent normal system operation. A series of sophisticated tools compares these very high fidelity estimates to the actual sensor readings to detect discrepancies. Finally, a series of logic rules derived from a combination of engineering analysis and experience is applied to the output from the modeling engine in real-time to alert the user of developing serious conditions that need either immediate or planned maintenance attention. The software system provides a complete approach to asset monitoring that minimizes down time, maximizes availability, encodes (preserves) operator knowledge and lowers the overall costs associated with maintaining the assets. In this paper, we demonstrate the use of the similarity-based modeling approach for detecting faults in the gas path of aircraft engines. Some results from the monitoring of over 1,100 engines at a major commercial airline over a two-year period are described. Operationally, the early detection of developing engine faults has prevented delays and cancellations, and has contributed to a reduction in the airline’s in-flight shutdown rate. Financially, this approach has led to significant cost savings by the prevention of major secondary damage.
Reports on the topic "Very early onset IBD"
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Shpigel, Nahum, Raul Barletta, Ilan Rosenshine, and Marcelo Chaffer. Identification and characterization of Mycobacterium paratuberculosis virulence genes expressed in vivo by negative selection. United States Department of Agriculture, January 2004. http://dx.doi.org/10.32747/2004.7696510.bard.
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Mycobacterium avium subsp. paratuberculosis (MAP) is the etiological agent of a severe inflammatory bowel disease (IBD) in ruminants, known as Johne’s disease or paratuberculosis. Johne’s disease is considered to be one of the most serious diseases affecting dairy cattle both in Israel and worldwide. Heavy economic losses are incurred by dairy farmers due to the severe effect of subclinical infection on milk production, fertility, lower disease resistance and early culling. Its influence in the United States alone is staggering, causing an estimated loss of $1.5 billion to the agriculture industry every year. Isolation of MAP from intestinal tissue and blood of Crohn's patients has lead to concern that it plays a potential pathogenic role in promoting human IDB including Crohn’s disease. There is great concern following the identification of the organism in animal products and shedding of the organism to the environment by subclinically infected animals. Little is known about the molecular basis for MAP virulence. The goal of the original proposed research was to identify MAP genes that are required for the critical stage of initial infection and colonization of ruminants’ intestine by MAP. We proposed to develop and use signature tag mutagenesis (STM) screen to find MAP genes that are specifically required for survival in ruminants upon experimental infection. This research projected was approved as one-year feasibility study to prove the ability of the research team to establish the animal model for mutant screening and alternative in-vitro cell systems. In Israel, neonatal goat kids were repeatedly inoculated with either one of the following organisms; MAP K-10 strain and three transposon mutants of K-10 which were produced and screened by the US PI. Six months after the commencement of inoculation we have necropsied the goats and taken multiple tissue samples from the jejunum, ileum and mesenteric lymph nodes. Both PCR and histopathology analysis indicated on efficient MAP colonization of all the inoculated animals. We have established several systems in the Israeli PI’s laboratory; these include using IS900 PCR for the identification of MAP and using HSP65-based PCR for the differentiation between MAV and MAP. We used Southern blot analysis for the differentiation among transposon mutants of K-10. In addition the Israeli PI has set up a panel of in-vitro screening systems for MAP mutants. These include assays to test adhesion, phagocytosis and survival of MAP to/within macrophages, assays that determine the rate of MAPinduced apoptosis of macrophages and MAP-induced NO production by macrophages, and assays testing the interference with T cell ã Interferon production and T cell proliferation by MAP infected macrophages (macrophage studies were done in BoMac and RAW cell lines, mouse peritoneal macrophages and bovine peripheral blood monocytes derived macrophages, respectively). All partners involved in this project feel that we are currently on track with this novel, highly challenging and ambitious research project. We have managed to establish the above described research systems that will clearly enable us to achieve the original proposed scientific objectives. We have proven ourselves as excellent collaborative groups with very high levels of complementary expertise. The Israeli groups were very fortunate to work with the US group and in a very short time period to master numerous techniques in the field of Mycobacterium research. The Israeli group has proven its ability to run this complicated animal model. This research, if continued, may elucidate new and basic aspects related to the pathogenesis MAP. In addition the work may identify new targets for vaccine and drug development. Considering the possibility that MAP might be a cause of human Crohn’s disease, better understanding of virulence mechanisms of this organism might also be of public health interest as well.