Results 151 to 160 of about 164,819 (283)

Association between serum bicarbonate and low mid‐upper arm circumference in patients with non‐dialysis‐dependent chronic kidney disease: A cross‐sectional study

Nutrition in Clinical Practice, EarlyView.
Abstract Background Although previous experimental studies showed that metabolic acidosis promoted muscle catabolism and impaired protein synthesis, few epidemiological studies reported an independent association between serum bicarbonate levels and muscle atrophy in patients with chronic kidney disease (CKD).
Nobuhisa Morimoto, Shintaro Mandai, Tamami Fujiki, Fumiaki Ando, Takayasu Mori, Koichiro Susa, Shotaro Naito, Eisei Sohara, Tatsuhiko Anzai, Kunihiko Takahashi, Wataru Akita, Akihito Ohta, Shinichi Uchida, Soichiro Iimori   +13 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes [PDF]

, 2018
Reda Zenagui, Delphine Lacourt, Henri Pégeot, Kévin Yauy, Raúl Juntas‐Morales, Corine Theze, François Rivier, Claude Cancés, Guilhem Solé, Dimitri Renard, Ulrike Walther‐Louvier, Xavier Ferrer-Monasterio, Caroline Espil, Marie‐Christine Arné‐Bes, Pascal Cintas, Emmanuelle Uro‐Coste, Marie-Laure Martin Négrier, Valérie Rigau, Éric Bieth, Cyril Goizet, Mireille Claustres, M. Kœnig, Mireille Cossée   +22 more
openalex   +1 more source

Review of Critical Illness Myopathy and Neuropathy

The Neurohospitalist, 2017
Starane A. Shepherd, A. Batra, David P. Lerner   +2 more
semanticscholar   +1 more source

Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang, Haibo Li, Xiangyu Zhu, Liangpu Xu, Ying Chang, Fengqun Dong, Jianping Xiao, Jian Gao, Minyue Dong, Ying Peng, Hua Jin, Ting Wang, Xiaoxiao Xie, Lin Zhang, Hongmei Zhuang, Na Hao, Xiya Zhou, Hongna Wang, Ying You, Kun Ma, Rui Xiao, Qingwei Qi   +21 more
wiley   +1 more source

Reply: “Leigh Syndrome Due to the Variant c.1019T>C in COX15”

Movement Disorders Clinical Practice, EarlyView.
Haya S. AlFaris, Sangeetha Yoganathan, Marcus N. Callister, Liali Aljouda, Vivek Pai, Pradeep Krishnan, Andrea LeBlanc Miller, Christos Ganos, Carolina Gorodetsky   +8 more
wiley   +1 more source

European Consensus on Functional Bloating and Abdominal Distension—An ESNM/UEG Recommendations for Clinical Management

United European Gastroenterology Journal, EarlyView.
ABSTRACT Introduction Abdominal distension is an objective visible sign of increased abdominal girth. Bloating is a feeling of abdominal fullness and discomfort. Bloating may be associated or not with abdominal distension. Bloating and abdominal distension are among the most commonly reported gastrointestinal symptoms and may be associated with both ...
Chloé Melchior, Heinz Hammer, Serhat Bor, Elizabeth Barba, Indira Benjak Horvat, Altay Celebi, Vasile Drug, Dan Dumitrascu, Ismail Hakki Kalkan, Goran Hauser, Christos Lionis, Dan Livovsky, Amir Mari, Agata Mulak, Teodora Surdea‐Blaga, Jan Tack, Tim Vanuytsel, Edoardo Vincenzo Savarino, Natalia Zarate‐Lopez, Johann Hammer, Ram Dickman   +20 more
wiley   +1 more source

Differential Effects of 3-Hydroxy-3-methylglutaryl-Coenzyme A Reductase Inhibitors on the Development of Myopathy in Young Rats [PDF]

, 1996
Jaap C. Reijneveld, Radboud W. Koot, J.J. Bredman, Jaap A. Joles, P.R. Bär   +4 more
openalex   +1 more source

GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges

Neurotherapeutics, 2018
N. Carrillo, M. Malicdan, M. Huizing
semanticscholar   +1 more source

European Society for the Study of Coeliac Disease 2025 Updated Guidelines on the Diagnosis and Management of Coeliac Disease in Adults. Part 1: Diagnostic Approach

United European Gastroenterology Journal, EarlyView.
Infographic. This infographic summarizes the diagnostic approach to CeD in adults, including initial serological testing, histological confirmation, criteria for a no‐biopsy diagnosis, seronegative CeD, potential CeD, and the role of gluten challenge. Source: Authors' own creation (based on current clinical guidelines).
Abdulbaqi Al‐Toma, Fabiana Zingone, Federica Branchi, Annalisa Schiepatti, Georgia Malamut, Cristina Canova, Isabella Rosato, Honoria Ocagli, Nick Trott, Luca Elli, Alina Popp, Carmen Gianfrani, Renata Auricchio, Andra Neefjes‐Borst, David S. Sanders, Christophe Cellier, Chris J. Mulder, Gerd Bouma, Knut E. A. Lundin, Ludvig M. Sollid, Michael Schumann   +20 more
wiley   +1 more source