Results 111 to 120 of about 8,039 (253)

Assessment of Initial Stay Time and Work‐Rest Scheduling Over Consecutive Moderate‐Intensity Workdays in Hot Environments in Young and Older Males and Females

American Journal of Industrial Medicine, EarlyView.
ABSTRACT Introduction Initial stay time (IST), the duration of continuous work before core temperature reaches 38.0°C, has been characterized in young and older adults but not across consecutive work periods or in conjunction with standard work‐rest cycles.
Glen P. Kenny, Katie E. Wagar, Roberto C. Harris‐Mostert, Kristina‐Marie T. Janetos, James J. McCormick, Kelli E. King, Leonidas G. Ioannou, Ronald J. Sigal, W. Shane Journeay, Fergus K. O'Connor   +9 more
wiley   +1 more source

Correction to: Patient Preferences in Rare Diseases: A Qualitative Study in Neuromuscular Disorders to Inform a Quantitative Preference Study [PDF]

, 2021
Cecilia Jimenez‐Moreno, Eline van Overbeeke, Cathy Anne Pinto, Ian Smith, Jenny Sharpe, James S. Ormrod, Chiara Whichello, Esther W. de Bekker‐Grob, Kristin Bullok, Bennett Levitan, Isabelle Huys, G. Ardine de Wit, Gráinne S. Gorman   +12 more
openalex   +1 more source

Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler, Bryce A. Schuler, Elizabeth A. Jasper, Janet Talbert, Laura Duncan, Mackenzie Mosera   +5 more
wiley   +1 more source

Neurobiological modulation with REAC technology: enhancing pain, depression, anxiety, stress, and quality of life in post-polio syndrome subjects

Scientific Reports
Post-polio syndrome (PPS) brings new challenges for polio survivors, including muscle decline, pain, depression, and diminished quality of life. This study explored the potential of REAC neuromodulatory treatments to ease pain, improve mood, and enhance ...
Jeyce Adrielly André Nogueira, Acary Souza Bulle Oliveira, Monalisa Pereira Motta, Alcione Aparecida Vieira de Souza Moscardi, Vanessa Manchim Favaro, Claudete Munhoz Teixeira, Amanda Orasmo Simcsik, Maria Clara Patrizi, Maria Salete Conde, Arianna Rinaldi, Vania Fontani, Salvatore Rinaldi   +11 more
doaj   +1 more source

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source

Modelling Neuromuscular Diseases in the Age of Precision Medicine [PDF]

, 2020
Alfina A. Speciale, Ruth Ellerington, Thomas Goedert, Carlo Rinaldi   +3 more
openalex   +1 more source

Pharmacologic Targeting of the C-Terminus of Heat Shock Protein 90 Improves Neuromuscular Function in Animal Models of Charcot Marie Tooth X1 Disease [PDF]

, 2023
Sukhmanjit Kaur, Xinyue Zhang, Sugandha Patel, Yssa Rodriguez, Kylie J. Luther, Ghufran Alghafli, Ryan M. Lang, Charles K. Abrams, Rick T. Dobrowsky   +8 more
openalex   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Screening and evaluation tools of dysphagia in children with neuromuscular diseases: a systematic review [PDF]

, 2016
Nicolas Audag, Christophe Goubau, Michel Toussaint, Grégory Reychler   +3 more
openalex   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source