ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra+17 more
wiley +1 more source
Hemodynamics and Blood Volume During Operation with Ether Anesthesia and Unreplaced Blood Loss [PDF]
Richard A. Theye, Gerald F. Tuohy
openalex +1 more source
NMDAR‐Antibody Encephalitis Diagnosed With Primary Central Nervous System Lymphoma: A Case Series
ABSTRACT N‐methyl‐D‐aspartate receptor‐antibody encephalitis (NMDAR encephalitis) is one of the most common forms of autoimmune encephalitis, with a paraneoplastic relationship described in approximately 38%. Primary central nervous system lymphoma (PCNSL) is a rare hematologic malignancy that is not often considered as the underlying neoplasm in this ...
Soo Hyun Ahn+4 more
wiley +1 more source
Measurement of Blood Loss During Operation [PDF]
William R. Alsop+2 more
openalex +1 more source
ABSTRACT Objective Reliable biomarkers are essential for tracking disease progression and advancing treatments for multiple system atrophy (MSA). In this study, we propose the MSA Atrophy Index (MSA‐AI), a novel composite volumetric measure to distinguish MSA from related disorders and monitor disease progression. Methods Seventeen participants with an
Paula Trujillo+11 more
wiley +1 more source
Research opportunities in loss of red blood cell mass in space flight [PDF]
Decreases of red blood cell mass and plasma volume have been observed consistently following manned space flights. Losses of red cell mass by United States astronauts have averaged 10 to 15% (range: 2 to 21%).
Fisher, K. D., Talbot, J. M.
core +1 more source
Preoperative Narcotic Use, Impaired Ambulation Status, and Increased Intraoperative Blood Loss Are Independent Risk Factors for Complications Following Posterior Cervical Laminectomy and Fusion Surgery. [PDF]
ObjectiveThis retrospective cohort study seeks to identify risk factors associated with complications following posterior cervical laminectomy and fusion (PCLF) surgery.MethodsAdults undergoing PCLF from 2012 through 2018 at a single center were ...
Badiee, Ryan K+8 more
core
BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach+11 more
wiley +1 more source
Correlation Between Irisin and Cognitive Functions in Alzheimer Dementia
ABSTRACT Objective The myokine irisin, a recent positive mediator of exercise in the brain, shows neuroprotective functions against Alzheimer's disease (AD). The association between irisin and cognition has never been explored in a biologically defined cohort of patients.
Patrizia Pignataro+12 more
wiley +1 more source
Clinical Characteristics of Parkinsonism in HTLV‐1‐Associated Myelopathy
ABSTRACT Objective Human T‐lymphotropic virus type 1 (HTLV‐1)‐associated myelopathy/tropical spastic paraparesis (HAM/TSP) is the classic neurological manifestation of HTLV‐1 infection; however, this virus has also been associated with other neurological disorders. Concurrent parkinsonism is relatively rare and presents diagnostic challenges.
Mika Dozono+8 more
wiley +1 more source