Results 131 to 140 of about 256,729 (300)
The Veterans Affairs Neuropathy Scale: A Reliable, Remote Polyneuropathy Exam. [PDF]
, 2019 Introduction: Polyneuropathy (PN) complaints are common, prompting many referrals for neurologic evaluation. To improve access of PN care in distant community clinics, we developed a telemedicine service (patient-clinician interactions using real-time ...
Jamal, Nasheed I +3 more
core
Data‐Driven Modeling of Forces Exerted by Pneumatic Actuators for a Pediatric Exosuit
Advanced Intelligent Systems, EarlyView.This work presents the experimental analysis and data‐driven modeling of the interaction forces between soft pneumatic actuators designed to assist upper‐extremity motion in a pediatric exosuit and an engineered test rig, across different experimental conditions: (A) force profiling of shoulder actuators, with varying actuator anchoring points and ...
Mehrnoosh Ayazi +4 more
wiley +1 more source
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 +9 more
wiley +1 more source
Cirugía y CirujanosObjetivo: La canalopatía iónica del músculo esquelético es una enfermedad huérfana rara que se hereda genéticamente. Debido a las características únicas de los síntomas de la enfermedad, el diagnóstico erróneo de los pacientes conduce a pérdidas ...
Askeri Turken
doaj +1 more source
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 +5 more
wiley +1 more source
Sleep Disordered Breathing in Children with Neuromuscular Disease. [PDF]
Children (Basel), 2023 Chidambaram AG +3 more
europepmc +1 more source
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 +22 more
wiley +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 +16 more
wiley +1 more source
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 +9 more
wiley +1 more source
Novel MYL1 Intron Variant With Expanded Phenotype
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington +7 more
wiley +1 more source