Many Mendelian disorders, such as Huntington's disease (HD) and spinocerebellar ataxias, arise from expansions of CAG trinucleotide repeats. Despite the clear genetic causes, additional genetic factors may influence the rate of those monogenic disorders. Notably, genome-wide association studies discovered somewhat expected modifiers, particularly mismatch repair genes involved in the CAG repeat instability, impacting age at onset of HD.
View Article and Find Full Text PDFExpansions of glutamine-coding CAG trinucleotide repeats cause a number of neurodegenerative diseases, including Huntington's disease and several of spinocerebellar ataxias. In general, age-at-onset of the polyglutamine diseases is inversely correlated with the size of the respective inherited expanded CAG repeat. Expanded CAG repeats are also somatically unstable in certain tissues, and age-at-onset of Huntington's disease corrected for individual CAG repeat length (i.
View Article and Find Full Text PDFLarge GaSe crystals were grown and various antireflection microstructures (ARMs) were fabricated on their cleaved surfaces using optimized femtosecond laser ablation, which provided the antireflection effect in a wide wavelength range of 4-16 µm. The influence of ARMs created on the GaSe surface on the change of the laser-induced damage threshold (LIDT) of the crystal at a wavelength of 5 μm was evaluated. The 5-µm Fe:ZnMgSe laser with the pulse duration of 135 ns was used for the LIDT test in conditions close to single pulse exposure.
View Article and Find Full Text PDFWe study structural and morphological transformations caused by multipulse femtosecond-laser exposure of Bridgman-grown ϵ-phase GaSe crystals, a van der Waals semiconductor promising for nonlinear optics and optoelectronics. We unveil, for the first time, the laser-driven self-organization regimes in GaSe allowing the formation of regular laser-induced periodic surface structures (LIPSSs) that originate from interference of the incident radiation and interface surface plasmon waves. LIPSSs formation causes transformation of the near-surface layer to amorphous GaSe at negligible oxidation levels, evidenced from comprehensive structural characterization.
View Article and Find Full Text PDFThe formation of soluble α-synuclein (α-syn) and amyloid-β (Aβ) aggregates is associated with the development of Parkinson's disease (PD). Current methods mainly focus on the measurement of the aggregate concentration and are unable to determine their heterogeneous size and shape, which potentially also change during the development of PD due to increased protein aggregation. In this work, we introduce aptamer-assisted single-molecule pull-down (APSiMPull) combined with super-resolution fluorescence imaging of α-syn and Aβ aggregates in human serum from early PD patients and age-matched controls.
View Article and Find Full Text PDFIn this work, a number of new infrared nonlinear optical (NLO) crystals of LiAgInSe, in which the ratio of Li/Ag varies in a wide range from 0 to 1, are investigated. Structural analysis reveals that the space group of LiAgInSe evolved from 4̅2 in AgInSe to Pna2 in LiInSe as increases from low values (0, 0.2, 0.
View Article and Find Full Text PDFThe fundamental processes of nucleation and crystallization are widely observed in systems relevant to material synthesis and biomineralization; yet most often, their mechanism remains unclear. In this study, we unravel the discrete stages of nucleation and crystallization of Fe(PO)·8HO (vivianite). We experimentally monitored the formation and transformation from ions to solid products by employing correlated, time-resolved and approaches.
View Article and Find Full Text PDFBackground: Palliative endoscopic biliary drainage is the primary treatment option for the management of patients with jaundice which results from distal malignant biliary obstruction (DMBO). In this group of patients, decompression of the bile duct (BD) allows for pain reduction, symptom relief, chemotherapy administration, improved quality of life, and increased survival rate. To reduce the unfavorable effects of BD decompression, minimally invasive surgical techniques require continuous improvement.
View Article and Find Full Text PDFLiGaSe is a propitious material for nonlinear parametric conversion in the mid-infrared (mid-IR) range. Its refractive index of n = 2.25 in the 2-12 µm wavelength range results in significant losses due to Fresnel reflection.
View Article and Find Full Text PDFThe influence of the domain structure's initial topology and its evolution on the hysteresis curves of tetragonal and rhombohedral polydomain structures of ferroelectroelastic materials is studied. Based on the analysis of electrical and mechanical compatibility conditions, all possible variants of representative volume elements of tetragonal and rhombohedral second-rank-domain laminate structures were obtained and used in simulations. Considerable local inhomogeneity of stress and electric fields within the representative volume, as well as domain interaction, necessitates the use of numerical methods.
View Article and Find Full Text PDFHuntington's disease is caused by an expanded CAG tract in HTT. The length of the CAG tract accounts for over half the variance in age at onset of disease, and is influenced by other genetic factors, mostly implicating the DNA maintenance machinery. We examined a single nucleotide variant, rs79727797, on chromosome 5 in the TCERG1 gene, previously reported to be associated with Huntington's disease and a quasi-tandem repeat (QTR) hexamer in exon 4 of TCERG1 with a central pure repeat.
View Article and Find Full Text PDFOptical quality cm-sized LiInSe crystals were grown using the Bridgman-Stockbarger method, starting from pure element reagents, under the conditions of a low temperature gradient of 5-6 degrees/cm and a slight melt overheating. The phase purity of the grown crystal was verified by the powder XRD analysis. The thermophysical characteristics of LiInSe were determined by the XRD measurements in the temperature range of 303-703 K and strong anisotropy of the thermal expansion coefficients was established.
View Article and Find Full Text PDFKhirurgiia (Mosk)
June 2022
Objective: To analyze creatine phosphokinase as a predictor of destructive cholecystitis.
Material And Methods: We analyzed 105 patients with various clinical variants of acute calculous cholecystitis (catarrhal, phlegmonous, gangrenous), and comparable age, gender and comorbidities. The study included patients with gallstone disease and gallbladder inflammation aged 30-7 years who underwent laparoscopic cholecystectomy, open cholecystectomy, cholecystectomy through mini-laparotomy.
Lithium thiogallate LiGaS is one of the most common nonlinear crystals for mid-IR due to its extreme beam strength and wide transparency range; however, its thermophysical properties have not yet been practically studied. Large crystals of high optical quality are grown. DTA revealed features at 1224 K below melting point (1304 K) that are associated with the oxygen containing compounds of the LiGaO S type.
View Article and Find Full Text PDFThe age at onset of motor symptoms in Huntington's disease (HD) is driven by HTT CAG repeat length but modified by other genes. In this study, we used exome sequencing of 683 patients with HD with extremes of onset or phenotype relative to CAG length to identify rare variants associated with clinical effect. We discovered damaging coding variants in candidate modifier genes identified in previous genome-wide association studies associated with altered HD onset or severity.
View Article and Find Full Text PDFGenome-wide association studies (GWASs) of Huntington disease (HD) have identified six DNA maintenance gene loci (among others) as modifiers and implicated a two step-mechanism of pathogenesis: somatic instability of the causative HTT CAG repeat with subsequent triggering of neuronal damage. The largest studies have been limited to HD individuals with a rater-estimated age at motor onset. To capitalize on the wealth of phenotypic data in several large HD natural history studies, we have performed algorithmic prediction by using common motor and cognitive measures to predict age at other disease landmarks as additional phenotypes for GWASs.
View Article and Find Full Text PDFWe report the first direct measurements of the refractive index of silica glass up to 145 GPa that allowed quantifying its density, bulk modulus, Lorenz-Lorentz polarizability, and band gap. These properties show two major anomalies at ∼10 and ∼40 GPa. The anomaly at ∼10 GPa signals the onset of the increase in Si coordination, and the anomaly at ∼40 GPa corresponds to a nearly complete vanishing of fourfold Si.
View Article and Find Full Text PDFThe authors report successful surgical treatment of apostematous pyelonephritis complicated by sepsis in an 18-year-old patient with severe COVID-19 pneumonia (CT-2) and diabetes mellitus type 1. Active surgical approach with retroperitoneal drainage and decapsulation of the right kidney ensured positive dynamics in the treatment of destructive pyelonephritis, course of diabetes mellitus and elimination of sepsis. These aspects determined favorable outcome of disease.
View Article and Find Full Text PDFWe have performed a combined experimental and theoretical study of ethane and methane at high pressures of up to 120 GPa at 300 K using x-ray diffraction and Raman spectroscopies and the USPEX ab initio evolutionary structural search algorithm, respectively. For ethane, we have determined the crystallization point, for room temperature, at 2.7 GPa and also the low pressure crystal structure (phase A).
View Article and Find Full Text PDFObjective: To report our experience in surgical treatment of patients with COVID-19.
Material And Methods: There were 7815 patients with COVID-19 for the period from April 1, 2020 to December 31, 2020. During this period, 172 operations were performed in this group.
Background: Huntington's disease (HD) is caused by an expanded (>35) CAG trinucleotide repeat in huntingtin (HTT). Age-at-onset of motor symptoms is inversely correlated with the size of the inherited CAG repeat, which expands further in brain regions due to somatic repeat instability. Our recent genetic investigation focusing on autosomal SNPs revealed that age-at-onset is also influenced by genetic variation at many loci, the majority of which encode genes involved in DNA maintenance/repair processes and repeat instability.
View Article and Find Full Text PDFGaSe crystals are promising as nonlinear optical converters in the mid- and far-IR ranges. However, it is challenging to increase the GaSe surface transmittance of 77% with conventional antireflection coatings because of poor surface quality, leading to coating adhesion problems. Antireflection microstructures (ARMs) offer an alternative way of increasing surface transmittance.
View Article and Find Full Text PDFWe report the relation between the optical properties and electronic structure of lithium thiogallate (LiGaS) by performing XPS and XES measurements and theoretical calculations. According to the XPS measurements, the LiGaS crystals grown by the Bridgman-Stockbarger method possess promising optical qualities, low hygroscopicity and high stability upon middle-energy Ar-ion irradiation. The difference in the LiGaS band gaps obtained by theoretical calculations and experimental measurements was, for the first time, reduced down to 0.
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