Results 71 to 80 of about 3,198,753 (206)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

The biochemical and molecular characterisation of respiratory mucins in TB [PDF]

, 2006
Includes bibliographical references (leaves 96-112).The role of the dominant respiratory mucins (MUC5AC and MUC5B) and MUC2 has been investigated in chronic airway diseases as it is the mucin glycoprotein that confers upon mucus its biological ...
Govender, Ureshnie
core   +1 more source

Acute pancreatitis following SARS-CoV-2 infection: A case report

SAGE Open Medical Case Reports, 2023
The novel coronavirus 2019 (COVID-19) which is caused by severe acute respiratory syndrome coronavirus-2 was first reported from Wuhan, China in December 2019. Since then, it has caused global crisis and it still continues to be a Public Health Emergency
Ugyen Choden, Sonam Yangzom, Geeta Pradhan, Pema wangchuk   +3 more
doaj   +1 more source

Allergen sensitivity profile among symptomatic children: A descriptive study from North India

Indian Journal of Allergy Asthma and Immunology, 2022
BACKGROUND: As allergic disorders are increasing across all age groups, we aim to detect the common offending allergens in various allergic disorders with respiratory, gastrointestinal, or skin manifestations in children between the age group of 2 months
Deepak Kumar, Mugdha Anand, Vibha Sharma, Ritika Goyal, Neeraj Gupta, Dhiren Gupta   +5 more
doaj   +1 more source

Gastrointestinal Manifestations of SARS-CoV-2 Infection and Virus Load in Fecal Samples From a Hong Kong Cohort: Systematic Review and Meta-analysis

Gastroenterology, 2020
Background & Aims Infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) causes coronavirus disease 2019 (COVID-19), which has been characterized by fever, respiratory, and gastrointestinal symptoms as well as shedding of virus RNA ...
Ka-Shing Cheung, I. Hung, P. Chan, Kwok-Cheung Lung, Eugene Y. K. Tso, R. Liu, Y. Ng, M. Chu, T. Chung, A. Tam, C. Yip, K. Leung, Agnes Yim-Fong Fung, R. Zhang, Yansheng Lin, Holly H. S. Cheng, A. Zhang, Kelvin K. W. To, Kwok-Hung Chan, Kwok Y. Yuen, W. Leung   +20 more
semanticscholar   +1 more source

Rheumatoid arthritis: Extra-articular manifestations and comorbidities.

Autoimmunity Reviews, 2021
Although synovitis is the pathological hallmark of rheumatoid arthritis (RA), many extra-articular manifestations (EMs) and comorbidities likely occur due to the complex, chronic, inflammatory, and autoimmune features of RA.
F. Figus, M. Piga, I. Azzolin, R. McConnell, A. Iagnocco   +4 more
semanticscholar   +1 more source

Ofatumumab in Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease: A Comparison With Rituximab

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the efficacy and safety of ofatumumab in patients with myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), and compare it with rituximab. Methods We conducted a single–center, observational study including 22 MOGAD patients treated with ofatumumab and 21 treated with rituximab.
Yuxin Fan, Lei Zhou, Jingzi ZhangBao, Hongmei Tan, Zhouzhou Wang, Chao Quan   +5 more
wiley   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Molecular and Clinical Comparison of Enterovirus D68 Outbreaks among Hospitalized Children, Ohio, USA, 2014 and 2018

Emerging Infectious Diseases, 2019
Enterovirus D68 (EV-D68) causes respiratory tract infections and neurologic manifestations. We compared the clinical manifestations from 2 EV-D68 outbreaks in 2014 and 2018 and a low-activity period in 2016 among hospitalized children in central Ohio ...
Huanyu Wang, Alejandro Diaz, Katherine Moyer, Maria Mele-Casas, Maria Fatima Ara-Montojo, Isabel Torrus, Karen McCoy, Asuncion Mejias, Amy L. Leber   +8 more
doaj   +1 more source

Comparative Effectiveness and Safety of Inebilizumab Versus Rituximab in AQP4‐IgG‐Positive NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rituximab (anti‐CD20, RTX) and inebilizumab (anti‐CD19, INE) represent B‐cell‐depleting therapies used for aquaporin‐4 antibody‐positive (AQP4‐IgG+) neuromyelitis optica spectrum disorder (NMOSD); however, direct comparative evidence remains limited.
Jie Lin, Binbin Xue, Dewei Xie, Jia Li, Juyuan Pan, Lanbing Zhu, Qiaowen Tong, Jing Lin, Ruofan Zhu, Xu Zhang, Junhui Xia, Xiang Li   +11 more
wiley   +1 more source