A Missense Pathogenic Variant in a Conserved Region of Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family.

Introduction: In a consanguineous family, seven siblings born in three sibships showed a syndromic disorder characterized by obesity, seizures, and language impairment phenotypes, which appeared at early age or developed during early childhood.

Methods: By whole-exome sequencing and subsequent Sanger sequencing, a novel homozygous missense variant (c.3371 T>A [p.

Application of Machine Learning Techniques for Predicting Compressive, Splitting Tensile, and Flexural Strengths of Concrete with Metakaolin.

The mechanical properties of concrete are the important parameters in a design code. The amount of laboratory trial batches and experiments required to produce useful design data can be decreased by using robust prediction models for the mechanical properties of concrete, which can save time and money. Portland cement is frequently substituted with metakaolin (MK) because of its technical and environmental advantages.

Driven Synthesis of Zinc Oxide Nano Material Its Characterization and Biomedical Applications.

The current study demonstrates a sophisticated and environmentally friendly synthesis of zinc oxide nanoparticles (ZnO-NPs) for a range of biological and environmental applications using as a bio-source. At the nanometer scale, a simple aqueous extract from was used to convert Zn into stable elemental zinc (Zn). With an average size of 45.

Green Synthesis of Zinc Oxide (ZnO) Nanoparticles Using Aqueous Fruit Extracts of : Their Characterizations and Biological and Environmental Applications.

In the present work, bioaugmented zinc oxide nanoparticles (ZnO-NPs) were prepared from aqueous fruit extracts of . The ZnO-NPs were characterized by different techniques such as X-ray diffraction (XRD), Fourier transform infrared (FTIR) spectroscopy, ultraviolet (UV) spectroscopy, scanning electron microscopy (SEM), transmission electron microscopy (TEM), dynamic light scattering (DLS), and thermogravimetric analysis (TGA). The crystallites exhibited a mean size of 41.

Edible mushroom (Flammulina velutipes) as biosource for silver nanoparticles: from synthesis to diverse biomedical and environmental applications.

The current study reports advanced, ecofriendly and biosynthesized silver NPs for diverse biomedical and environmental applications using Flammulina velutipes as biosource. In the study, a simple aqueous extract of F. velutipes was utilized to reduce the AgNO into stable elemental silver (Ag) at a nanometric scale.

Biomedical and Photo-Catalytic Application of Bio-Inspired Mediated Silver Nanoparticles.

To minimize the hazardous effect of physical and chemical synthesis of nanoparticles we focused on the green synthesis of nanoparticles. Nanotechnology is a research hotspot and catch great attention because of its versatile applications in medical, biosciences and engineering fields. Purpose of our recent study is to synthesize bio-inspired metallic silver NPs by root mediated extract.

COVID-19: Review of Epidemiology and Potential Treatments Against 2019 Novel Coronavirus.

An epidemic of extreme respiratory deterrence, pneumonia and shortness of breath, the SARS-CoV-2 viral infection began in Wuhan, Hubei Province, China in December 2019, and rapidly spread across China and beyond, with human to human transmission. On February 12, 2020, World Health Organization officially named the new coronavirus disease as coronavirus disease 19 (COVID-19). Most COVID-19 patients were diagnosed with pneumonia and many were treated using Chinese medicines and other secondary therapies.

The study of gene GJB2/DFNB1 causing deafness in humans by linkage analysis from district Peshawar.

Families with at least 2 or more individuals having hereditary hearing loss were enrolled from different areas of Khyber Pakhtoonkhwa, mainly from district Peshawar. Detailed history was taken from each family to minimize the presence of other abnormalities and environmental causes for deafness. Families were questioned about skin pigmentation, hair pigmentation, and problems relating to balance, vision, night blindness, thyroid, kidneys, heart, and infectious diseases like meningitis, antibiotic usage, injury, and typhoid.

Molecular investigation of mental retardation locus gene PRSS12 by linkage analysis.

The present study was carried out to determine the prevalence of families having mental retardation in Pakistani population. We enrolled seven mentally retarded (MR) families with two or more affected individuals. Family history was taken to minimize the chances of other abnormalities.

Endotracheal spindle cell lipoma presenting as a chronic cough.

An elderly gentleman with a chronic cough was found to have a large midtracheal lesion on computed tomography scan. Endotracheal extirpation with an electrocautery snare successfully removed the lesion. Histologic and immunohistochemical analyses revealed the lesion to be a spindle cell lipoma.