Results 151 to 160 of about 114,995 (356)

Outcomes and risk factors for complications in deletional haemoglobin H disease: A retrospective longitudinal cohort study in British Columbia, Canada

open access: yes
British Journal of Haematology, EarlyView.
Jacqueline Blunt   +5 more
wiley   +1 more source

Comorbidities in Mild WAS/XLT Require Lifelong Follow‐Up and Consideration of Definitive Treatment

open access: yesAmerican Journal of Hematology, Volume 100, Issue 11, Page 2004-2016, November 2025.
Our study followed the clinical and biological course of 261 WAS/XLT patients, including 170 with a mild form of the disease. The occurrence of late complications even in mild patients confirms the importance of offering lifelong follow‐up and considering definitive treatment (HSCT/gene therapy) for all patients.
Coralie Mallebranche   +16 more
wiley   +1 more source

Determining predictors of underlying etiology and clinical deterioration in patients with physiologic instability in the emergency department [PDF]

open access: yes, 2013
Thesis (M.A.)--Boston UniversityShock is a critical state defined by inadequate oxygen delivery to tissues. It is well known in the critical care community that early diagnosis and treatment of shock are crucial to improving patient outcomes. However, in
Day, Danielle E.
core   +1 more source

Splenic Artery Aneurysm in Gaucher Disease: A Hybrid Study Combining Case Report, Scoping Review, and Clinical Survey

open access: yesJIMD Reports, Volume 66, Issue 6, November 2025.
ABSTRACT Gaucher disease (GD) is a rare lysosomal storage disorder caused by pathogenic variants in the GBA gene. Splenic artery aneurysm (SAA) is an uncommon and underrecognized complication of GD, particularly in the absence of traditional risk factors. SAA carries a high risk of rupture and significant mortality.
Paolo Manzi   +8 more
wiley   +1 more source

Expansion of the Phenotype of Lymphatic Anomalies Caused by Somatic Activating BRAF Variant

open access: yesPediatric Blood &Cancer, Volume 72, Issue 11, November 2025.
ABSTRACT Background The somatic activating variant in BRAF (p.V600E) was recently described as a novel cause of macrocystic head and neck lymphatic malformations in three individuals. Other recent studies profiling the genetic causes of more complex lymphatic anomalies identified this same pathogenic BRAF variant.
Michael D. Fox   +11 more
wiley   +1 more source

Clinical and Genetic Analysis of Dehydrated Hereditary Stomatocytosis: A Case Report

open access: yesClinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Dehydrated hereditary stomatocytosis (DHS) is a rare autosomal dominant hemolytic anemia caused by abnormal erythrocyte ion permeability, most often due to PIEZO1 mutations. We report the case of a 15‐year‐old male with elevated indirect bilirubin and mild anemia.
Chen Ming, Shiyuan Wu, Rui Pan
wiley   +1 more source

Home - About - Disclaimer - Privacy