Results 21 to 30 of about 390,211 (289)
Phenotypic continuum of NFU1‐related disorders
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022 Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov +45 more
wiley +1 more source
Cancer Cell International, 2019 Background Long non-coding RNAs (lncRNAs) are a family of non-protein-coding RNAs, which have the ability to influence the chemo-resistance of lung adenocarcinoma (LAC).
Wei Zuo +4 more
doaj +1 more source
Passive Respiration Detection via mmWave Communication Signal Under Interference [PDF]
arXiv, 2023 Recent research has highlighted the detection of human respiration rate using commodity WiFi devices. Nevertheless, these devices encounter challenges in accurately discerning human respiration amidst the prevailing human motion interference encountered in daily life. To tackle this predicament, this paper introduces a passive sensing and communication
arxiv
Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1910-1917, December 2022., 2022 Abstract Objective Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity of FAS in a pedigree with a known hnRNPA1 variant was described to raise early ...
Xiaochen Han +5 more
wiley +1 more source
Acta Biomedica Scientifica, 2018 Cytomegalovirus (CMV) infection is one of the causes of congenital neurological disorders and the virus itself is the most common viral agent causing an imbalance in the production of placenta progesterone and its neuroactive metabolites ...
I. V. Dovzhikova +5 more
doaj +1 more source
COPD, 2022 This study aimed to conduct a meta-analysis to investigate whether short-term exposure to fine (PM2.5) and coarse (PM10) particulate matter was associated with acute exacerbation of chronic obstructive pulmonary disease (AECOPD) hospitalization ...
Niuniu Li +3 more
doaj +1 more source
Prevalence and biomarkers in metabolic syndrome
Ожирение и метаболизм, 2021 The prevalence of metabolic syndrome (MS) has a worldwide tendency to increase and depends on many components, which explains the complexity of diagnostics and approaches to the prevention and treatment of this pathology.
O. Y. Kytikova +4 more
doaj +1 more source
Novel Smart N95 Filtering Facepiece Respirator with Real-time Adaptive Fit Functionality and Wireless Humidity Monitoring for Enhanced Wearable Comfort [PDF]
arXiv, 2023 The widespread emergence of the COVID-19 pandemic has transformed our lifestyle, and facial respirators have become an essential part of daily life. Nevertheless, the current respirators possess several limitations such as poor respirator fit because they are incapable of covering diverse human facial sizes and shapes, potentially diminishing the ...
arxiv
The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1941-1952, December 2022., 2022 Abstract Objective The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement.
Michelle M. Lee +16 more
wiley +1 more source
Destruction of the bronchial epithelium in patients with severe asthma according to different patterns of inflammation and cold airway hyperresponsiveness [PDF]
Терапевтический архив, 2019 The aim of the research was to study the state of the bronchial mucosa epi-thelium in relation to the severity of clinical manifestations in severe uncon-trolled asthma depending on the pattern of inflammation and the presence of cold airway ...
A B Pirogov +5 more
doaj +1 more source