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https://read.qxmd.com/read/30718501/longitudinal-investigation-of-dna-methylation-changes-preceding-adolescent-psychotic-experiences
#1
Susanna Roberts, Matthew Suderman, Stanley Zammit, Sarah H Watkins, Eilis Hannon, Jonathan Mill, Caroline Relton, Louise Arseneault, Chloe C Y Wong, Helen L Fisher
Childhood psychotic experiences (PEs), such as seeing or hearing things that others do not, or extreme paranoia, are relatively common with around 1 in 20 children reporting them at age 12. Childhood PEs are often distressing and can be predictive of schizophrenia, other psychiatric disorders, and suicide attempts in adulthood, particularly if they persist during adolescence. Previous research has demonstrated that methylomic signatures in blood could be potential biomarkers of psychotic phenomena. This study explores the association between DNA methylation (DNAm) and the emergence, persistence, and remission of PEs in childhood and adolescence...
February 4, 2019: Translational Psychiatry
https://read.qxmd.com/read/30711779/hematopoietic-cell-transplantation-for-paroxysmal-nocturnal-hemoglobinuria-in-the-age-of-eculizumab
#2
Jason P Cooper, Rafic J Farah, Philip A Stevenson, Ted A Gooley, Rainer Storb, Bart L Scott
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired clonal hematopoietic cell disease characterized by destruction of hematopoietic cells through the activation of the complement system with manifestations that can be life threatening including hemolysis, thrombosis, and marrow failure. Allogeneic hematopoietic cell transplantation (HCT) remains the only cure for PNH, but eculizumab, a terminal complement inhibitor of C5, has been used to prevent complement mediated hemolysis in PNH since its FDA approval in 2007...
January 31, 2019: Biology of Blood and Marrow Transplantation
https://read.qxmd.com/read/30684656/prediction-of-drug-response-and-adverse-drug-reactions-from-twin-studies-to-next-generation-sequencing
#3
Volker M Lauschke, Magnus Ingelman-Sundberg
Understanding and predicting inter-individual differences related to the success of drug therapy is of tremendous importance, both during drug development and for clinical applications. Importantly, while seminal twin studies indicate that the majority of inter-individual differences in drug disposition are driven by hereditary factors, common genetic polymorphisms explain only less than half of this genetically encoded variability. Recent progress in Next Generation Sequencing (NGS) technologies has for the first time allowed to comprehensively map the genetic landscape of human pharmacogenes...
January 23, 2019: European Journal of Pharmaceutical Sciences
https://read.qxmd.com/read/30568185/phospholipase-c-gamma-2-activity-in-familial-steroid-sensitive-nephrotic-syndrome
#4
Limor Parker, Hilla Bahat, Michael Y Appel, Dina Volodarsky Baum, Relly Forer, Nir Pillar, Michael Goldberg, Michael Goldman
BACKGROUND: Familial steroid-sensitive nephrotic syndrome (SSNS) is rare, complicating the identification of candidate genes. A recent population-based approach study of SSNS identified HLA-DQA1 and phospholipase C-gamma 2 (PLCG2) missense coding variants as candidate loci. PLCG2 is a signaling molecule regulated by phosphorylation and is critical for Ca2+ flux in cells of the immune system. PATIENTS AND METHODS: In order to detect a candidate gene for familial SSNS, we conducted an whole-exome sequencing in a pedigree consisting of two healthy parents, two non-identical twin brothers with SSNS, and a healthy young sibling...
December 19, 2018: Pediatric Research
https://read.qxmd.com/read/30538582/clinical-factors-predicting-drug-induced-liver-injury-due-to-flucloxacillin
#5
Mikaela Lindh, Pär Hallberg, Qun-Ying Yue, Mia Wadelius
Objectives: Drug-induced liver injury (DILI) is a serious adverse reaction due to flucloxacillin. The pathogenesis is not fully understood. Female sex, age over 60 years, and a longer treatment duration have been suggested to be predisposing factors. Carriers of HLA-B*57:01 have an 80-fold increased risk, but due to the rarity of the reaction, testing of all patients is not cost-effective. We aimed to validate and detect clinical risk factors for flucloxacillin DILI. Methods: Clinical characteristics of flucloxacillin-treated patients with (n=50) and without DILI (n=2,330) were compared in a retrospective case control study...
2018: Drug, Healthcare and Patient Safety
https://read.qxmd.com/read/30484670/genetic-predictors-of-the-development-and-recurrence-of-graves-disease
#6
D Vejrazkova, J Vcelak, E Vaclavikova, M Vankova, K Zajickova, M Duskova, J Vrbikova, B Bendlova
Graves' disease affects approximately 3 % of women and 0.5 % of men. The first-choice therapy is based on the administration of thyrostatic drugs. However, approximately half of patients relapse within two years of discontinuation. These patients must then decide whether to re-initiate thyrostatics, which may have serious side effects, or to undergo surgery or radioiodine treatment. Familial forms of Graves' disease indicate a significant genetic component, with twin studies demonstrating a contribution of genetic factors up to 70-80 %...
November 28, 2018: Physiological Research
https://read.qxmd.com/read/30461572/report-of-resistant-varicella-zoster-infection-treated-with-donor-lymphocyte-infusion-in-a-pediatric-oncology-patient
#7
Katherine Cooper, Guy Makin, Emma Davies, Andrew Turner, Prashant Hiwarkar, Robert Wynn
We report an 8 year old boy with disseminated, life-threatening, drug treatment-resistant varicella zoster infection occurring during standard treatment for neuroblastoma in whom viral clearance and cure was effected by donor Lymphocyte infusion from his HLA-identical twin sibling.
November 16, 2018: Pediatric Infectious Disease Journal
https://read.qxmd.com/read/30343705/geoepidemiology-and-epi-genetics-in-primary-biliary-cholangitis
#8
REVIEW
Roberto Rosa, Laura Cristoferi, Atsushi Tanaka, Pietro Invernizzi
Primary biliary cholangitis (PBC) is a rare female preponderant chronic autoimmune cholestatic liver disease, characterized by intrahepatic ductopenia and progressive fibrosis. During last decades incidence and prevalence showed an increasing rate which vary widely worldwide demonstrating an important interaction between environmental and genetic factors. Heritability suggested by familial occurrence and monozygotic twins concordance have been confirmed in more studies. Epigenetics mechanisms such as histone modification and DNA methylation can partially explain predisposition and inheritance of this disease...
June 2018: Best Practice & Research. Clinical Gastroenterology
https://read.qxmd.com/read/30318177/implication-of-antibodies-against-human-leukocyte-antigen-in-simultaneous-presentation-of-fetal-and-neonatal-alloimmune-thrombocytopenia-and-neutropenia
#9
Idoia Gimferrer, Gayle Teramura, Mary Gallagher, Paul Warner, Hongxiu Ji, Shilpi Chabra
Fetal and neonatal alloimmune thrombocytopenia (FNAIT) and neonatal alloimmune neutropenia (NAN) are two rare complications of newborns caused by antibodies against paternal inherited antigens. Human platelet (HPA) and neutrophil antigens (HNA) are the common targets. Human leukocyte antigen (HLA) class I proteins are also expressed on platelets and neutrophils and anti-HLA antibodies have occasionally been implicated in these complications. We report a premature twin infant who presented with severe thrombocytopenia and neutropenia clinically compatible with FNAIT and NAN, from a mother with no identifiable HPA or HNA antibodies, but with very high levels of complement-fixing antibodies against paternal inherited HLA...
December 2018: Transfusion and Apheresis Science
https://read.qxmd.com/read/30255134/identical-twin-small-bowel-transplantation-without-maintenance-immunosuppression-a-5-year-follow-up-and-literature-review
#10
Guosheng Wu, Qingchuan Zhao, Mian Wang, Jiangpeng Wei, Hao Sun, Jianyong Zheng, Daiming Fan
Background: The availability of an identical twin donor that allows avoidance of complications related to graft rejection and immunosuppression represents an ideal treatment option for irreversible intestinal failure. Methods and Results: We described a 45-year-old woman who lost most of her small bowel due to acute superior mesenteric thrombosis received a living-related small bowel transplant from her identical-twin sister. Monozygosity was established by buccal smear DNA amplification using short tandem repeat...
August 2018: Transplantation Direct
https://read.qxmd.com/read/29947174/genome-wide-association-studies-of-autoimmune-thyroid-diseases-thyroid-function-and-thyroid-cancer
#11
REVIEW
Yul Hwangbo, Young Joo Park
Thyroid diseases, including autoimmune thyroid diseases and thyroid cancer, are known to have high heritability. Family and twin studies have indicated that genetics plays a major role in the development of thyroid diseases. Thyroid function, represented by thyroid stimulating hormone (TSH) and free thyroxine (T4), is also known to be partly genetically determined. Before the era of genome-wide association studies (GWAS), the ability to identify genes responsible for susceptibility to thyroid disease was limited...
June 2018: Endocrinology and Metabolism
https://read.qxmd.com/read/29735030/living-donor-intestinal-transplantation
#12
REVIEW
Ivo G Tzvetanov, Kiara A Tulla, Giuseppe D'Amico, Enrico Benedetti
Living donor intestinal transplantation (LDIT) has been improved leading to results comparable to those obtained with deceased donors. LDIT should be limited to specific indications and patient selection. The best indication is combined living donor intestinal/liver transplantation in pediatric recipients with intestinal and hepatic failure; the virtual elimination of waiting time may avoid the high mortality experienced by candidates on the deceased waiting list. Potentially, LDIT could be used in highly sensitized recipients to allow the application of de-sensitization protocols...
June 2018: Gastroenterology Clinics of North America
https://read.qxmd.com/read/29499803/genetic-predisposition-to-rosacea
#13
REVIEW
Olabola Awosika, Elias Oussedik
Rosacea is a common inflammatory skin disease with a multifaceted pathophysiology, including environmental stressors and neurovascular and immune dysfunction affected by the presence of pathogens. The genetic component of this disorder is not well understood. However, a possible genetic origin in Northern European descendants, family inheritance, twin concordance, and genetic associations with autoimmune disorders attest the genetic predisposition to rosacea. Currently, one single-nucleotide polymorphism has been identified in association with rosacea and is intergenic between HLA-DRA and BTNL2...
April 2018: Dermatologic Clinics
https://read.qxmd.com/read/29415910/comparative-immunity-of-antigen-recognition-differentiation-and-other-functional-molecules-similarities-and-differences-among-common-marmosets-humans-and-mice
#14
REVIEW
Yoshie Kametani, Takashi Shiina, Ryuji Suzuki, Erika Sasaki, Sonoko Habu
The common marmoset (CM; Callithrix jacchus) is a small New World monkey with a high rate of pregnancy and is maintained in closed colonies as an experimental animal species. Although CMs are used for immunological research, such as studies of autoimmune disease and infectious disease, their immunological characteristics are less defined than those of other nonhuman primates. We and others have analyzed antigen recognition-related molecules, the development of hematopoietic stem cells (HSCs), and the molecules involved in the immune response...
July 30, 2018: Experimental Animals
https://read.qxmd.com/read/29351172/systematic-review-and-meta-analysis-of-genetic-risk-factors-for-neuropathic-pain
#15
Abirami Veluchamy, Harry L Hébert, Weihua Meng, Colin N A Palmer, Blair H Smith
Neuropathic pain (NP) is an increasingly common chronic pain state and a major health burden, affecting approximately 7% to 10% of the general population. Emerging evidence suggests that genetic factors could partially explain individual susceptibility to NP and the estimated heritability in twins is 37%. The aim of this study was to systematically review and summarize the studies in humans that have investigated the influence of genetic factors associated with NP. We conducted a comprehensive literature search and performed meta-analyses of all the potential genetic variants associated with NP...
May 2018: Pain
https://read.qxmd.com/read/29280562/mandenka-from-senegal-next-generation-sequencing-typings-reveal-very-high-frequencies-of-particular-hla-class-ii-alleles-and-haplotypes
#16
T Goeury, L E Creary, M A Fernandez-Vina, J-M Tiercy, J M Nunes, A Sanchez-Mazas
No abstract text is available yet for this article.
February 2018: HLA
https://read.qxmd.com/read/29105599/genotype-based-epigenetic-differences-in-monozygotic-twins-discordant-for-positive-anti-thyroglobulin-autoantibodies
#17
Mikio Watanabe, Yoichi Takenaka, Chika Honda, Yoshinori Iwatani
BACKGROUND: Epigenetic factors associated with the development of autoimmune diseases are unclear. Monozygotic twin pairs discordant for positive anti-thyroglobulin autoantibodies (TgAb) are useful to examine the epigenetic factors because of their identical genetic background. PURPOSE: To clarify the discordant epigenetic differences affecting the development of TgAb. SUBJECTS: We selected subjects from 257 Japanese monozygotic twins, recruited from the registry established by the Center for Twin Research at Osaka University...
November 4, 2017: Thyroid: Official Journal of the American Thyroid Association
https://read.qxmd.com/read/28930983/personalized-peptide-arrays-for-detection-of-hla-alloantibodies-in-organ-transplantation
#18
Pan Liu, Tomokazu Souma, Andrew Zu-Sern Wei, Xueying Xie, Xunrong Luo, Jing Jin
In organ transplantation, the function and longevity of the graft critically rely on the success of controlling immunological rejection reactivity against human leukocyte antigens (HLA). Histocompatibility guidelines are based on laboratory tests of anti-HLA immunity, which presents either as pre-existing or de novo generated HLA antibodies that constitute a major transplantation barrier. Current tests are built on a single-antigen beads (SAB) platform using a fixed set of ~100 preselected recombinant HLA antigens to probe transplant sera...
September 6, 2017: Journal of Visualized Experiments: JoVE
https://read.qxmd.com/read/28679510/neonatal-alloimmune-thrombocytopaenia-associated-with-maternal-hla-antibodies
#19
Kristina Wendel, Çiğdem Akalin Akkök, Stefan Kutzsche
Neonatal alloimmune thrombocytopaenia (NAIT) generally results from platelet opsonisation by maternal antibodies against fetal platelet antigens inherited from the infant's father. Newborn monochorionic twins presented with petechial haemorrhages at 10 hours of life, along with severe thrombocytopaenia. Despite the initial treatment with platelet transfusions and intravenous immunoglobulin, they both had persistent thrombocytopaenia during their first 45 days of life. Class I human leucocyte antigen (HLA) antibodies with broad specificity against several HLA-B antigens were detected in the maternal serum...
July 5, 2017: BMJ Case Reports
https://read.qxmd.com/read/28510587/sibling-method-increases-risk-assessment-estimates-for-type-1-diabetes
#20
Hoang V Lam, Dat T Nguyen, Cao D Nguyen
We presented a risk assessment model to distinguish between type 1 diabetes (T1D) affected and unaffected siblings using only three single nucleotide polymorphism (SNP) genotypes. In addition we calculated the heritability from genome-wide identity-by-descent (IBD) sharing between full siblings. We analyzed 1,253 pairs of affected individuals and their unaffected siblings (750 pairs from a discovery set and 503 pairs from a validation set) from the T1D Genetics Consortium (T1DGC), applying a logistic regression to analyze the area under the receiver operator characteristic (ROC) curve (AUC)...
2017: PloS One
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