Results 131 to 140 of about 953,563 (287)

CAQ Corner: Immune‐mediated complications

, 2022
Liver Transplantation, EarlyView.
Mary Thomson, John R. Lake
wiley   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Cytomegalovirus Infections in the Atypical Host: A Case Series of Clinical Conundra. [PDF]

Cureus, 2023
Hassan KS, Idris A, Al Lawati BS, Balkhair A.   +3 more
europepmc   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Cytomegalovirus infection in NICU admitted neonates in Boushehr

Iranian South Medical Journal, 2016
Background: Cytomegalovirus is the most prevalent cause of congenital infections and the most important cause of congenital deafness. Which it's spread is about 0.64% of all birth which differ based on geolocation, race and socioeconomically situations ...
Maryam Sanjideh, Sirous Naeimi, Maryam Moradi Nasab, Roya Moradi, Katayon Vahdat   +4 more
doaj  

Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links LTBP4 Genetic Modifier to IL‐23/CD93 Pathways in Muscle

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang, Yuan Fang, Daniele Sabbatini, Elena Pegoraro, Luca Bello, Paula R. Clemens, Michela Guglieri, John van den Anker, Jesse Damsker, Laura Hagerty, Yetrib Hathout, Michael Ziemba, Lauren Morgenroth, Surajit Bhattacharya, Kanneboyina Nagaraju, Jyoti K. Jaiswal, Eric P. Hoffman   +16 more
wiley   +1 more source

Refractory cytomegalovirus infections in Chinese patients receiving allogeneic hematopoietic cell transplantation: a review of the literature. [PDF]

Front Immunol, 2023
Yang D, Yao Y, Sun Y, Jiang E.
europepmc   +1 more source

Innovative PLA or PCL‐Based Ocular Implants Obtained From Tape Casting or Electrospinning for Sustained‐Release Dexamethasone

Journal of Applied Polymer Science, EarlyView.
PLA and PCL ocular implants prepared by tape casting and electrospinning provide sustained dexamethasone release with distinct release profiles governed by polymer type and processing method. The relationship between polymer structure, degradation behavior, and drug release demonstrates the potential of these fabrication techniques for controlled ...
Renata Bochanoski, Henrique Borba Modolon, Ronaldo Silveira, Januara Rodrigues, Tiago Bender Wermuth, Sabrina Arcaro, Oscar R. K. Montedo   +6 more
wiley   +1 more source

A Rare RIPK3 Variant Enhances Necroptosis and Promotes Inflammation in a Still Disease–Like Autoinflammatory Syndrome

Arthritis &Rheumatology, EarlyView.
Objective Still disease represents a prototypical polygenic systemic autoinflammatory disease, characterized by recurrent systemic inflammation and dysregulation of innate immunity. Despite extensive clinical characterization, familial clustering Still disease remains unreported.
Longfang Chen, Qihua Dai, Yu Xiao, Jialin Dai, Mengyan Wang, Yuning Ma, Yujie Shen, Zhimo Xu, Jianfen Meng, Xia Chen, Da Yi, Yue Sun, Hui Shi, Honglei Liu, Xiaobing Cheng, Yutong Su, Junna Ye, Huihui Chi, Zhuochao Zhou, Tingting Liu, Jialin Teng, Chengde Yang, Jinchao Jia, Qiongyi Hu   +23 more
wiley   +1 more source

Cytomegalovirus Infections in Patients Treated With Immune Checkpoint Inhibitors for Solid Malignancies. [PDF]

Open Forum Infect Dis, 2023
Anastasopoulou A, Samarkos M, Diamantopoulos P, Vourlakou C, Ziogas DC, Avramopoulos P, Kouzis P, Haanen J, Gogas H.   +8 more
europepmc   +1 more source