Results 141 to 150 of about 346,070 (354)
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle +26 more
wiley +1 more source
National Hospital Ambulatory Medical Care Survey: 2020 Emergency Department Summary Tables [PDF]
, 2022 Christopher Cairns, Kai Kang
openalex +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Understanding recent trends in Swiss ambulatory care utilization when out-of-pocket payment is minimal [PDF]
, 2018 Summary.: Objective:: To examine trends in ambulatory care utilization when individuals face almost no financial barriers to health care. Methods:: Observational study of insurance data. Adults with minimal deductible were included.
Bridevaux, I., Santos-Eggimann, B.
core
Annals of Neurology, EarlyView.Objective Impaired ability to induce stepping after incomplete spinal cord injury (SCI) can limit the efficacy of locomotor training, often leaving patients wheelchair‐bound. The cuneiform nucleus (CNF), a key mesencephalic locomotor control center, modulates the activity of spinal locomotor centers via the reticulospinal tract.
Anna‐Sophie Hofer +21 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective Behavior and motor manifestations are distinctive yet often overlooked features of epileptic seizures. Seizures can result in transient disruptions in motor control, often organized into specific behavioral sequences that can inform seizure types, onset zones, and outcomes.
Yuyan Shen +8 more
wiley +1 more source
Hepatology, EarlyView., 2022 Physiological activation of myeloid p38 controls macrophage IL‐12 production and crosstalk to the liver by modulating hepatic FGF21, and subsequently, brown adipose tissue thermogenesis during obesity Abstract Obesity features excessive fat accumulation in several body tissues and induces a state of chronic low‐grade inflammation that contributes to ...
María Crespo +14 more
wiley +1 more source
Assessing Immunization Rates in an Ambulatory Care Setting [PDF]
, 2002 Roy E. Smith
openalex +1 more source
Developing a Business Case for the Care Coordination and Transition Management Model: Need, Metrics, and Measures [PDF]
, 2019 In this descriptive qualitative study, nurse and healthcare leaders\u27 experiences, perceptions of care coordination and transition management (CCTM®), and insights as to how to foster adoption of the CCTM RN role in nursing education, practice across ...
Brown, PhD, RN, CPHQ, FNAHQ, FAAN, Diane Storer +5 more
core +1 more source
Annals of Neurology, EarlyView.Objective The objective of this study was to compare the long‐term safety profiles of ocrelizumab and rituximab in persons with multiple sclerosis (MS). Methods Using retrospective data from the University of California (UC) Health System, we simulated a target clinical trial. The primary cohort from UC San Francisco (UCSF) and a validation cohort from
Gabriel Cerono +3 more
wiley +1 more source