Results 51 to 60 of about 440 (183)
Living with the Unknown: Intolerance of Uncertainty in Parkinson's Disease
Movement Disorders Clinical Practice, EarlyView.Abstract Background Parkinson's disease (PD) is marked by pervasive uncertainty due to fluctuating motor and non‐motor symptoms, variable treatment response, and an unpredictable clinical course. Intolerance of uncertainty (IU), a tendency to perceive ambiguity as threatening and respond with worry, avoidance, or decisional paralysis, may be ...
Bradley McDaniels +3 more
wiley +1 more source
Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1
Muscle &Nerve, EarlyView.ABSTRACT Glutamine:fructose‐6‐phosphate transaminase 1 (GFPT1) catalyzes the first and rate‐limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP‐GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1‐L).
Kinji Ohno +5 more
wiley +1 more source
Nutrition in Clinical Practice, EarlyView.Abstract Background Sarcopenia and malnutrition are associated with mortality, including in adults admitted to an intensive care unit. However, their relationships with each other and with intensive care unit mortality, independently, in mechanically ventilated adults are unclear.
Courtney Wedemire +6 more
wiley +1 more source
The clinical and genetic heterogeneity analysis of five families with primary periodic paralysis. [PDF]
Channels (Austin), 2021 Wang Q +5 more
europepmc +1 more source
Research in Nursing &Health, EarlyView.ABSTRACT Caring for infants experiencing or at risk of substance withdrawal often increases nursing workload and may contribute to missed nursing care (MNC). This study examined the relationship between infants' substance withdrawal status and the occurrence of MNC in neonatal intensive care units (NICUs). We conducted a secondary analysis of data from
Sooyoung Kim +4 more
wiley +1 more source
Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management
Otolaryngology–Head and Neck Surgery, EarlyView.Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley +1 more source
CHARGE Syndrome: What an Otolaryngologist Should Know—A Systematic Review and Meta‐Analysis
Otolaryngology–Head and Neck Surgery, EarlyView.Abstract Objective To synthesize the prevalence of otolaryngologic manifestations in CHARGE syndrome (CS) to support otolaryngologists in delivering comprehensive management. Data Sources PubMed/MEDLINE, Embase, and Google Scholar were searched for English‐ and French‐language studies published from January 1980 through January 2025.
Camille Caron +5 more
wiley +1 more source
Organ Medicine, EarlyView.Intestinal obstruction (IO) is an important but underexplored complication following simultaneous pancreas‐kidney transplantation (SPKT) and is associated with considerable morbidity and both clinical and economic burdens. In this single‐center cohort study, perioperative parameters, including demographic characteristics, surgical variables, and ...
Rongxin Chen +7 more
wiley +1 more source
Perianesthetic Complications in Genetic Mitochondrial Disease: A Review of Case Reports
Pediatric Anesthesia, EarlyView.ABSTRACT Background Genetic mitochondrial diseases (GMDs) are a large group of genetically and clinically heterogeneous disorders caused by defects in genes encoding mitochondrial components. GMDs are grouped into named syndromes based on clinical presentation, for example, Leigh syndrome (LS).
Brittany M. Johnson, Simon C. Johnson
wiley +1 more source