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Статті в журналах з теми "Very early onset IBD"
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.
Повний текст джерелаMagg, 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.
Повний текст джерелаConrad, 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.
Повний текст джерелаLevine, 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.
Повний текст джерелаLiang, 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.
Повний текст джерелаAhamed, 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.
Повний текст джерелаHolbein, 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.
Повний текст джерелаAlahmari, 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.
Повний текст джерелаÖrtqvist, 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.
Повний текст джерелаPavanello, 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.
Повний текст джерелаДисертації з теми "Very early onset IBD"
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.
Повний текст джерелаCoulon, Nathalie. "Liens entre troubles du spectre autistique et schizophrénies précoces ?" Thesis, Paris 6, 2015. http://www.theses.fr/2015PA066430/document.
Повний текст джерелаContext : 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
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.
Повний текст джерелаEarly 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
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.
Повний текст джерелаDespite 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
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.
Повний текст джерелаMy 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
Книги з теми "Very early onset IBD"
Beed, Martin, Richard Sherman, and Ravi Mahajan. Airway. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199696277.003.0002.
Повний текст джерелаLleó, Alberto, and Rafael Blesa. Clinical course of Alzheimer’s disease. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198779803.003.0004.
Повний текст джерелаFaraone, 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.
Повний текст джерелаWeninger, 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.
Повний текст джерелаScarpa, 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.
Повний текст джерелаSlater, Jerome. Mythologies Without End. Oxford University Press, 2020. http://dx.doi.org/10.1093/oso/9780190459086.001.0001.
Повний текст джерелаHaymann, 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.
Повний текст джерелаCui, 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.
Повний текст джерелаЧастини книг з теми "Very early onset IBD"
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.
Повний текст джерелаOffit, 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.
Повний текст джерелаPentel, 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.
Повний текст джерелаMuise, 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.
Повний текст джерелаKelsen, 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.
Повний текст джерелаKelsen, 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.
Повний текст джерела"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.
Повний текст джерелаSnowling, 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.
Повний текст джерелаWoźniak, 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.
Повний текст джерелаMatthews, 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.
Повний текст джерелаТези доповідей конференцій з теми "Very early onset IBD"
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.
Повний текст джерелаTamai, 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.
Повний текст джерелаTamai, 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.
Повний текст джерелаHugues, 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.
Повний текст джерелаWallois, 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.
Повний текст джерелаCannavan, 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.
Повний текст джерелаMaffia, 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.
Повний текст джерелаCaldas, 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.
Повний текст джерелаMakhsous, 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.
Повний текст джерелаHerzog, 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.
Повний текст джерелаЗвіти організацій з теми "Very early onset IBD"
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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