An extensive in silico analysis of missense mutations of the human gene.

HLD17 (Hypomyelinating Leukodystrophy 17) is an inherited white matter disorder characterized by insufficient myelin production due to biallelic loss of function mutations in the aminoacyl-tRNA synthetase complex-interacting multifunctional protein 2 (AIMP2) gene. In silico analysis of SNVs (single nucleotide variants) in the AIMP2 gene is an efficient and cost-effective method for analyzing and predicting the impact of mutations on protein function and disease pathophysiology. The study used dbSNP and Ensembl databases to obtain data on 343 nonsynonymous single nucleotide variants (nsSNVs) in the human AIMP2 gene.

Polygenic hazard score predicts synaptic and axonal degeneration and cognitive decline in Alzheimer's disease continuum.

Background: Growth associated protein-43 (GAP-43) and neurofilaments light (NFL) are biomarkers of synaptic and axonal injury, and are associated with cognitive decline in Alzheimer's disease (AD) contiuum. We investigated whether Polygenic Hazard Score (PHS) is associated with specific biomarkers and cognitive measures, and if it can predict the relationship between GAP-43, NFL, and cognitive decline in AD.

Method: We enrolled 646 subjects: 93 with AD, 350 with mild cognitive impairment (MCI), and 203 cognitively normal controls.

Association study of morpho-phenological traits in quinoa (Chenopodium quinoa Willd.) using SSR markers.

In this study, the genetic and molecular diversity of 60 quinoa accessions was assessed using agronomically important traits related to grain yield as well as microsatellite (SSR) markers, and informative markers linked to the studied traits were identified using association study. The results showed that most of the studied traits had a relatively high diversity, but grain saponin and protein content showed the highest diversity. High diversity was also observed in all SSR markers, but KAAT023, KAAT027, KAAT036, and KCAA014 showed the highest values for most of the diversity indices and can be introduced as the informative markers to assess genetic diversity in quinoa.

Advances in Treatments for Epidermolysis Bullosa (EB): Emphasis on Stem Cell-Based Therapy.

Epidermolysis bullosa (EB) is a rare genetic dermatosis characterized by skin fragility and blister formation. With a wide phenotypic spectrum and potential extracutaneous manifestations, EB poses significant morbidity and mortality risks. Currently classified into four main subtypes based on the level of skin cleavage, EB is caused by genetic mutations affecting proteins crucial for maintaining skin integrity.

The role of HLA genotypes in understanding the pathogenesis of severe COVID-19.

The coronavirus disease 2019 (COVID-19) pandemic has caused human tragedy through the global spread of the viral pathogen SARS-CoV-2. Although the underlying factors for the severity of COVID-19 in different people are still unknown, several gene variants can be used as predictors of disease severity, particularly variations in viral receptor genes such as angiotensin-converting enzyme 2 (ACE2) or major histocompatibility complex (MHC) genes. The reaction of the immune system, as the most important defense strategy in the case of viruses, plays a decisive role.

Effect of Wii Fit training on visual perception and executive function in boys with developmental coordination disorders: A randomized controlled trial.

Background: This paper elucidated the influence of Wii Fit training on visual perception and executive function in boys with developmental coordination disorders (DCD).

Methods: 50 school boy with DCD (Mean Age = 9.55 ± 2.

(Teleostei, Haemulidae), a new species of sweetlips from the Persian Gulf and the Gulf of Oman.

. is described on the basis of 16 specimens from the Persian Gulf and Gulf of Oman, in the Northwest Indian Ocean. The new species can be distinguished from congeners by a combination of dorsal fin rays XII, 18-20, pectoral-fin rays 16-17, tubed lateral-line scales 55-57, gill rakers count (10-12 on the upper limb and 16-17 on the lower limb), 17-18 scales between the lateral line and the first anal-fin spine, 30-31 circumpeduncular scale rows and color pattern.

The Effect of 20 Minutes Scuba Diving on Cognitive Function of Professional Scuba Divers.

Background: Physical activity increases the performance of the nervous system by stimulating the body's metabolism and improving the efficiency of the ATP production system.

Objectives: In the present study, the effect of twenty minutes scuba diving in high depth (10m) on cognitive function and stress system activity was investigated.

Methods: Twelve professional scuba divers with a mean age of 23 ± 1 year, weight of 80 ± 2.

QRS complex detection based on simple robust 2-D pictorial-geometrical feature.

In this paper a heuristic method aimed for detecting of QRS complexes without any pre-process was developed. All the methods developed in previous studies were used pre-process, the most novelty of this study was suggesting a simple method which did not need any pre-process. Toward this objective, a new simple 2-D geometrical feature space was extracted from the original electrocardiogram (ECG) signal.

Vibrational assignment and structure of trifluorobenzoylacetone. A density functional theoretical study.

Molecular structure and vibrational frequencies of 4,4,4-trifluoro-1-phenyl-1,3-butanedione, known as trifluorobenzoylacetone (TFBA), have been investigated by means of density functional theory (DFT) calculations. The results were compared with those of benzoylacetone (BA), acetylacetone (AA), and trifluoroacetylacetone (TFAA). Comparing the calculated and experimental band frequencies and intensities suggests coexisting of both stable cis-enol conformers in comparable proportions in the sample.