Results 61 to 70 of about 849,669 (269)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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 with the subsequent formation of cardiovascular pathology in children

open access: yes, 2018
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  

Spinal Cord Infarction Versus Idiopathic Transverse Myelitis: Clinical, Radiological, and Functional Insights From a Retrospective Cohort Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

open access: yesМедицинский совет, 2018
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

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Research Progress on Chinese Medicine Regulation of Mitochondrial Damage for Intervention in Respiratory System Diseases

open access: yesChinese Medicine and Natural Products
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

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

open access: yesBMJ Open
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

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Analysis of incidence and prevalence of the respiratory system diseases of the adult population of Moscow and the Russian Federation

open access: yesЗдоровье мегаполиса, 2022
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  

Home - About - Disclaimer - Privacy