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
Acute Respiratory Infections (ARIs) Among Outpatient Healthcare Personnel (HCP)
1756. Acute Respiratory Infections (ARIs) Among Outpatient Healthcare Personnel (HCP) Amanda Krosche, BS; Mary Bessesen, MD; Derek Cummings, PhD; Charlotte Gaydos, DrPH, FIDSA; Cynthia Gibert, MD, MSc, FIDSA; Geoffrey Gorse, MD, FIDSA; Jenna Los, MLA ...
Amanda Krosche+14 more
semanticscholar +1 more source
Health risks associated with the use of automatic milk feeders in calves [PDF]
The objective of the present article was to summarize available evidence of the economic benefits and health risks associated with the use of automatic milk feeders (AMFs) in calves.
Boyen, Filip+6 more
core
End-to-End Knowledge-Routed Relational Dialogue System for Automatic Diagnosis
Beyond current conversational chatbots or task-oriented dialogue systems that have attracted increasing attention, we move forward to develop a dialogue system for automatic medical diagnosis that converses with patients to collect additional symptoms ...
Gong, Ke+5 more
core +1 more source
In Vitro Modeling of Natural Killer Cell Cytotoxicity to Inform Personalized ALS Therapeutics
ABSTRACT Objective Natural killer (NK) cells might contribute to motor neuron death in amyotrophic lateral sclerosis (ALS) through direct cytotoxicity, a process that could be inhibited with the FDA‐approved JAK/STAT pathway inhibitor, tofacitinib. This study aimed to verify that tofacitinib can suppress NK cell cytotoxicity, investigate if immune cell
Benjamin J. Murdock+8 more
wiley +1 more source
Mitochondria are important organelles in cells for energy production, and mitochondrial damage caused by various reasons is an important factor promoting disease progression.
Haibo Li+3 more
doaj +1 more source
Monitoring of Respiratory Infections in the Intensive Area of Respiratory System Disease
Respiratory infections are the most frequent nosocomial infections after those urinaries and surgicals. We analysed respiratory infection incidences in patients treated with different kinds of respiratory assistance (non-invasive ventilation and invasive mechanical ventilation trough tracheostomy), studying 640 patients recovering in the intensive
Filippo Ricciardiello+6 more
openaire +4 more sources
The effect of short-term changes in air pollution on respiratory and cardiovascular morbidity in Nicosia, Cyprus. [PDF]
Presented at the 6th International Conference on Urban Air Quality, Limassol, March, 2007. Short-paper was submitted for peer-review and appears in proceedings of the conference.This study investigates the effect of daily changes in levels of PM10 on the
Demokritou, Philip+7 more
core +1 more source
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó+17 more
wiley +1 more source
Hospitalisation patterns for respiratory diseases in Australia: an ecological study
Objectives The objective of this study is to examine the hospitalisation profile for respiratory diseases in Australia between 1998 and 2019.Design An ecological study.Setting A population study that involved all private and public hospitalisations for ...
Abdallah Y Naser+9 more
doaj +1 more source