Background: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation is an inherited disease caused by pathogenic biallelic variants in the gene , which encodes mitochondrial aspartyl-tRNA synthetase. This disease is characterized by slowly progressive spastic gait, cerebellar symptoms, and leukoencephalopathy with brainstem and spinal cord involvement.
Case Presentation: Peripheral blood samples were collected from four patients from four unrelated families to extract genomic DNA.
Aim: To assess the relationship between plasma chitotiosidase (CHIT) level and mortality in hospitalized patients with COVID-19.
Materials And Methods: 347 hospitalized patients with COVID-19 were enrolled in our single-center cohort prospective observational study. On the first day of hospitalization the patients were assessed by the level of CHIT in the venosus blood to addition to default laboratory examinations.
Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease with unknown mechanisms and a broad phenotypic spectrum. It is caused by pathogenic variants in the gene. The symptoms of the disease mainly include recurrent strokes with vascular risk factors, migraine with aura, dementia, and mood disturbances.
View Article and Find Full Text PDFThe features of oxidation of ultra-high-temperature ceramic material HfB-30 vol.%SiC modified with 1 vol.% graphene as a result of supersonic flow of dissociated CO (generated with the use of high-frequency induction plasmatron), as well as under the influence of combined heating by high-speed CO jets and ytterbium laser radiation, were studied for the first time.
View Article and Find Full Text PDFThe chemoresistive properties of multilayer titanium-containing TiCT and TiCT MXenes, synthesized by etching the corresponding MAX phases with NaF solution in hydrochloric acid, and the composites based on them, obtained by partial oxidation directly in a sensor cell in an air flow at 150 °C, were studied. Significant differences were observed for the initial MXenes, both in microstructure and in the composition of surface functional groups, as well as in gas sensitivity. For single TiCT and TiCT MXenes, significant responses to oxygen and ammonia were observed.
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