Results 151 to 160 of about 326,079 (269)

Association between preoperative prognostic nutritional index and postoperative delirium in older adults with hip fractures: a real-world study. [PDF]

open access: yesAnn Med
Wu Q   +12 more
europepmc   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim   +12 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

Osteonecrosis of the Femoral Head

open access: yesOrthopedics, 2011
Babis, G.C.   +3 more
openaire   +3 more sources

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican 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

Proximal femoral morphometry and its association with hip fracture patterns: a systematic review with meta-analysis. [PDF]

open access: yesSurg Radiol Anat
Kotzias D   +8 more
europepmc   +1 more source

Phenotypic profiling of pristane‐induced mimicking human systemic lupus erythematosus in Macaca fascicularis

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Pristane (5 mL/kg) induced a robust systemic lupus erythematosus (SLE)‐like phenotype in Macaca fascicularis, marked by elevated antinuclear antibody (ANA) levels and systemic clinical, hematological, and biochemical changes. This model closely reflects human SLE and provides a translational platform for disease studies and therapeutic evaluation ...
Jonny Jonny   +12 more
wiley   +1 more source

Animal models of chronic thromboembolic pulmonary hypertension

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Current animal models of CTEPH. Created using BioRender.com. Abstract Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare, yet life‐threatening disorder characterized by persistent pulmonary vascular obstruction and elevated pulmonary artery pressure, with progressive remodeling and subsequent right heart failure.
Yong‐Jian Zhu   +5 more
wiley   +1 more source

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