Results 141 to 150 of about 8,207,451 (247)

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

open access: yesClinical Genetics, EarlyView.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady   +3 more
wiley   +1 more source

Müllerian Duct Aplasia in a Girl With SMARCB1‐Related Coffin–Siris Syndrome: A Rare Co‐Occurring Anomaly

open access: yesClinical Genetics, EarlyView.
Genetic causes of Müllerian aplasia remain largely unknown. We report the first molecularly confirmed case of Coffin–Siris syndrome 3 caused by a de novo SMARCB1 variant presenting with Müllerian aplasia, supporting a potential association between BAF complex dysfunction and abnormal Müllerian duct development. Created in BioRender. Herlin, M. K. (2026)
Anneli C. S. Bolund   +5 more
wiley   +1 more source

Progressive Pulmonary Alveolar Proteinosis Diagnosis Masking Pneumonic Lung Carcinoma: Anchoring Bias in Critical Care

open access: yesCytopathology, EarlyView.
A presumed case of pulmonary alveolar proteinosis with clinical deterioration was ultimately identified at autopsy as pneumonic‐type pleomorphic carcinoma. This case highlights the diagnostic overlap between diffuse lung diseases and the risk of anchoring bias in critically ill patients.
Dakota Wheeler   +3 more
wiley   +1 more source

The burden of COVID‐19 in hospitalized people with diabetes mellitus in Brazil: Insights from four years of the pandemic

open access: yesDiabetic Medicine, EarlyView.
Abstract Aims Coronavirus disease 2019 (COVID‐19), caused by severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2), is more severe in people with diabetes mellitus due to immune dysfunction, exacerbated inflammation and increased risk of co‐morbidities and mortality.
Taís Mendes Camargo   +4 more
wiley   +1 more source

Under‐ and overdosing insulin in the hospital: A retrospective cohort study of dose deviation and patient outcomes

open access: yesDiabetic Medicine, EarlyView.
Abstract Aims Glycaemic abnormalities during hospitalization are common and linked to morbidity and mortality, yet little is known about how deviations from guideline‐recommended insulin dosing affect outcomes. The aim of this study is to examine whether deviation from an expected insulin dose in non‐critically ill hospitalized adults with type 2 ...
Hussein Zaitoon   +5 more
wiley   +1 more source

Consenso colombiano de neumonía nosocomial 2013

open access: yesInfectio
La neumonía asociada al ventilador (NAV) y la neumonía nosocomial (NN), definidas como aquellas infecciones pulmonares adquiridas durante la ventilación mecánica, son entidades comunes en las unidades de cuidado intensivo; están asociadas a una alta ...
Abraham Alí Munive   +2 more
doaj  

Impacts of coal smoke on infant mortality: Evidence from industrializing Japan

open access: yesThe Economic History Review, EarlyView.
Abstract This study investigates the health consequences of coal smoke during Japan's early industrialization. Using fixed‐effects models and a prefecture‐level panel dataset on actual coal consumption and infant mortality from 1899 to 1910, this study finds that higher coal consumption was positively associated with infant mortality.
Tatsuki Inoue
wiley   +1 more source

Feasibility and Safety of Venetoclax for Cytoreduction During Induction Therapy in Newly Diagnosed Acute Promyelocytic Leukemia

open access: yesEuropean Journal of Haematology, EarlyView.
ABSTRACT Objective This study aimed to evaluate the feasibility and safety of venetoclax as a cytoreductive strategy during induction therapy in newly diagnosed acute promyelocytic leukemia (APL), and to provide an exploratory description of its early efficacy.
Yu Wang   +3 more
wiley   +1 more source

Home - About - Disclaimer - Privacy