Results 131 to 140 of about 1,448,979 (308)

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

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Preferences for Posttraumatic Osteoarthritis Prevention Strategies in Individuals With Anterior Cruciate Ligament Injury

Arthritis Care &Research, EarlyView.
Objective There is growing interest in evaluating new strategies to delay or prevent posttraumatic osteoarthritis (PTOA) in individuals who have sustained anterior cruciate ligament (ACL) injury. This study sought to determine characteristics of potential treatments that are acceptable to patients with ACL injury. Methods Participants with a history of
Kevin Kennedy, Lily Waddell, Adam Easterbrook, Jeffrey N. Katz, Cale Jacobs, Morgan Jones, Faith Selzer, Elena Losina, Liana Fraenkel, Nick Bansback   +9 more
wiley   +1 more source

Pharmacokinetics, Pharmacodynamics, and Safety of Subcutaneous Belimumab in Pediatric Patients With Systemic Lupus Erythematosus: A Multicenter, Open‐Label Trial

Arthritis Care &Research, EarlyView.
Objective This study aimed to characterize the pharmacokinetics, pharmacodynamics, safety, and exploratory efficacy of subcutaneous belimumab in pediatric patients with active systemic lupus erythematosus (SLE) receiving standard therapy. Methods This single‐arm, multicenter, open‐label trial (GSK study 200908; ClinicalTrials.gov identifier ...
Hermine I. Brunner, Jordi Antón, Inmaculada Calvo‐Penadés, Richard Dimelow, Gerd Horneff, Sylvia Kamphuis, Rebecca Marino, Andre van Maurik, Kirsten Minden, Masaaki Mori, Josephine Ocran‐Appiah, Christel Wilkinson, Yuichi Yamasaki, Deepak Assudani, for the Pediatric Rheumatology Collaborative Study Group (PRCSG) and Paediatric Rheumatology International Trials Organisation (PRINTO) Network investigators   +14 more
wiley   +1 more source

Twin birth weight discordance and risk of pre-term birth

مجله دانشگاه علوم پزشکی گرگان, 2003
Background and Objective: The association between discordant growth and the complication of twin pregnancy has been recognized for more than 30 years. Recent publications have presented evidence that 30% or even 40% discordance presents the threshold for
E.Mobashery (M.D), MJ.Golalipour (Ph.D), MA.Vakili (M.Sc)   +2 more
doaj  

Combining Three Peripheral Blood Biomarkers to Stratify Rheumatoid Arthritis–Associated Interstitial Lung Disease Risk

Arthritis Care &Research, EarlyView.
Objective The purpose was to evaluate a biomarker score consisting of MUC5B rs35705950 promoter variant, plasma matrix metalloproteinase‐7 (MMP‐7), and serum anti–malondialdehyde‐acetaldehyde (anti‐MAA) antibody for rheumatoid arthritis (RA)–associated interstitial lung disease (ILD) risk stratification.
Kelsey Coziahr, Austin M. Wheeler, Brent A. Luedders, Michael Duryee, Halie Frideres, Katherine D. Wysham, Grant W. Cannon, Gary Kunkel, Dana P. Ascherman, Paul A. Monach, Gail S. Kerr, Andreas M. Reimold, Scott M. Matson, Joshua F. Baker, Geoffrey M. Thiele, Ted R. Mikuls, Bryant R. England   +16 more
wiley   +1 more source

Saturation effects of pre-pregnancy BMI on infant birth weight in Jiangxi Province, China: a retrospective study

Scientific Reports
There were limited analyses on relationship between body mass index (BMI) pre-pregnancy, as well as birth weight. Research aimed to examine the relation between these two, as well as low birth weight (LBW) risk in Jiangxi Province, China. A total of 1193
Jun Xiong, Huan Li, Xiao-Qing Tan, Xiao-Ju He, Wen-Yan Fu   +4 more
doaj   +1 more source

Does Long‐Term Lower Extremity Strength Training in Adults With Knee Osteoarthritis and Varus Alignment Reduce Knee Joint Loading During Gait?

Arthritis Care &Research, EarlyView.
Objective We examined whether 18 months of strength training in individuals with knee varus alignment and medial tibiofemoral osteoarthritis (OA) reduced knee joint loads during walking compared to an attention control group. Methods This study was a secondary analysis of a randomized clinical trial that compared the effects of strength training to a ...
Stephen P. Messier, Matthew N. Vigliotti, Paige E. Rice, Brian Pietrosimone, Shannon L. Mihalko, Edward H. Ip, Richard F. Loeser, David J. Hunter, Ali Guermazi, Ryan Hill, Santiago Saldana, Kim L. Bennell, Paul DeVita   +12 more
wiley   +1 more source

The Poor at Birth: Infant Auxology and Mortality at Philadelphia's Almshouse Hospital, 1848-1873 [PDF]

This paper presents an analysis of birth weights and infant mortality in mid-nineteenth century Philadelphia using obstetrics records of Philadelphia's Almshouse hospital, an institution for the poor and their offspring.
Claudia D. Goldin, Robert A. Margo
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