Dominant mutations in a Cu, Zn-superoxide dismutase (SOD1) gene cause a familial form of amyotrophic lateral sclerosis (ALS).While it remains controversial how SOD1 mutations lead to onset and progression of the disease, many in vitro and in vivo studies have supported a gain-of-toxicity mechanism where pathogenic mutations contribute to destabiliz
Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).
Beckwith-Wiedemann syndrome (BWS) is a fetal overgrowth and human imprinting disorder resulting from the deregulation of a number of genes, including IGF2 and CDKN1C, in the imprinted gene cluster on chromosome 11p15.5.Most cases are sporadic and result from epimutations at either of the two 11p15.5 imprinting centres (IC1 and IC2).However, rare fa
A nomogram based on radiomics intermuscular adipose analysis to indicate arteriosclerosis in patients with newly diagnosed type 2 diabetes
ObjectiveEarly identifying arteriosclerosis in newly diagnosed type 2 diabetes (T2D) patients could contribute to choosing proper subjects for early prevention.Here, we aimed to investigate whether radiomic intermuscular adipose tissue (IMAT) analysis could be used as a novel marker to indicate arteriosclerosis in newly diagnosed T2D patients.Metho
Possibility of increasing the liquid temperature in the problem of supercompression of a bubble by an acoustic action
Expansions and collapses of a vapor bubble at the pressure antinode of a standing acoustic wave in liquid acetone at temperatures 273 K and 293 K were compared.In the first case, the acoustic excitation amplitude and frequency were 15 bar and 19.3 kHz, whereas in the second case they were varied on the condition that the maximum radius of the bubbl
Muscle scars in euomphaline gastropods from the Ordovician of Baltica
A discrete pair of muscle scars is described for the first time on the umbilical wall of the open-coiled, hyperstrophic ophiletoidean Memory Books gastropod Asgardispira, a close relative of the widely distributed Lytospira, from the middle Ordovician of the eastern Baltica.In a unique specimen of the euomphaloidean Lesueurilla of similar age and d