Results 61 to 70 of about 849,669 (269)
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Diseases of the respiratory system are one of the most frequent causes of the treatment of children in hospital facilities. The younger the child, the more often these diseases occur and the more severe it can be.
Saienko, V. +7 more
core
ABSTRACT Introduction Spinal cord infarction (SCI) is a rare but devastating myelopathy, characterized by a high disability rate and an unfavorable prognosis. It has often been underdiagnosed and misdiagnosed as idiopathic transverse myelitis (ITM). This study aimed to describe the clinical features, radiological biomarkers, treatments, and functional ...
Zeqiang Ji +13 more
wiley +1 more source
Acute respiratory diseases: progression features, pharmaceutical therapy
Acute respiratory diseases (ARD) are widespread diseases and are of great social importance. Diagnosis of acute respiratory infections implies the damage to the respiratory system caused by a wide range of pathogens.
N. V. Orlova, T. G. Suranova
doaj +1 more source
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane +43 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
ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan +9 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
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Introduction. As a result of the COVID-19 pandemic that swept the whole world in 2020, the level and structure of morbidity changed, the “center of gravity” of adult mortality shifted towards infectious diseases.
V. M. Kuraeva +2 more
doaj

