Whole exome sequencing identified five novel variants in , , , and leading to epilepsy in consanguineous families.

Epilepsy is a group of neurological disorders characterized by recurring seizures and fits. The Epilepsy genes can be classified into four distinct groups, based on involvement of these genes in different pathways leading to Epilepsy as a phenotype. Genetically the disease has been associated with various pathways, leading to pure epilepsy-related disorders caused by variations, or involving physical or systemic issues along with epilepsy caused by and , or developed by genes that are putatively involved in epilepsy lead by variations.

Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.

Background: Autosomal recessive cutis laxa type 2A (ARCL2A; OMIM: 219200) is characterized by neurovegetative, developmental and progeroid elastic skin anomalies. It is caused by biallelic variation in ATPase, H transporting V0 subunit A2 (ATP6V0A2; OMIM: 611716) located on chromosome 12q24.31.

Novel Variants in , and Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases.

Charcot-Marie-Tooth disease (CMT) and autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS) are large heterogeneous groups of sensory, neurological genetic disorders characterized by sensory neuropathies, muscular atrophies, abnormal sensory conduction velocities, and ataxia. CMT2EE (OMIM: 618400) is caused by mutations in (OMIM: 137960), CMT4F (OMIM: 614895) is caused by (OMIM: 605725), CMTX1 (OMIM: 302800) is caused by mutations in (OMIM: 304040), and ARSACS (OMIM: 270550) is caused by mutations in (OMIM: 604490). In this study, we enrolled four families: DG-01, BD-06, MR-01, and ICP-RD11, with 16 affected individuals, for clinical and molecular diagnoses.

Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in and Genes.

Hermansky-Pudlak syndrome (HSP) was first reported in 1959 as oculocutaneous albinism with bleeding abnormalities, and now consists of 11 distinct heterogenic genetic disorders that are caused by mutations in four protein complexes: AP-3, BLOC1, BLOC2, and BLOC3. Most of the patients show albinism and a bleeding diathesis; additional features may present depending on the nature of a defective protein complex. The subtypes 3 and 4 have been known for mutations in and genes, respectively.

Fabrication and Evaluation of Basil Essential Oil-Loaded Halloysite Nanotubes in Chitosan Nanocomposite Film and Its Application in Food Packaging.

Increasing health concerns regarding the use of plasticware have led to the development of ecofriendly biodegradable packaging film from natural polymer and food additives. In the present study, basil essential oil (BEO) loaded halloysite nanotubes (HNTs) composite films were synthesized using a solution casting method. The effects of BEO and nanotube concentration on the mechanical, physical, structural, barrier, and antioxidant properties of films were evaluated.

Enhancement of the Optical and Dielectric Properties at Low Frequency of (SrCa)TiO, (0 ≤ x ≤ 0.06) Structure Ceramics.

Low loss Ruddlesden-Popper (RP) series, i.e., (SrCa)TiO, 0.

A bioresource catalyst system of alginate-starch-activated carbon microsphere templated Cu nanoparticles: Potentials in nitroarenes hydrogenation and dyes discoloration.

The evolution and development of solid-matrix are considered a backbone for supporting and stabilizing of metal nanoparticles (NPs) and are the soul of the catalytic system. In the current study, the alginate-starch microsphere (Alg-St) was cross-linked using CaCl as a cross-linker. In addition, the Alg-St microsphere was blended with different percentages of activated carbon (AC).

Formulation and evaluation of SGLT2 inhibitory effect of a polyherbal mixture inspired from Ayurvedic system of medicine.

Background And Aim: The ingredients viz., and of the present formulation are used to treat diabetes in the Indian traditional medical system. Adopting the concept of multiple herbal mixtures for better therapeutic effects from the ancient Ayurvedic text Sarangdhar Samhita, the present study aimed to develop a polyherbal formulation (PHF) of seven herbs and to evaluate its sodium-glucose cotransporter protein-2 (SGLT2) inhibitory effect on type 2 diabetic rats.

Size at sexual maturity estimation for 36 species captured by bottom and mid-water trawls from the marine habitat of Balochistan and Sindh in the Arabian Sea, Pakistan, using maximum length (Lmax) and logistic (L50) models.

The aim of this study was to estimate the size at first sexual maturity (Lm) for 36 species belonging to 24 families from the marine habitat of Balochistan and Sindh in Arabian Sea, Pakistan through maximum length based an empirical and logistic model using commercial catch during June 2020 to May 2021. Individual total length (TL) was noted up to 0.1 cm using measuring broad.

Burden of Congenital and Hereditary Anomalies in Hazara Population of Khyber Pakhtunkhwa, Pakistan.

Background And Objectives: In Pakistan, there is high incidence of congenital and hereditary anomalies (CA) which are a leading cause of infant mortality and morbidity. In order to elucidate the burden and biodemographic correlates of CA, this study was aimed to report the prevalence-pattern and phenotypic attributes of CA in the Hazara population of Khyber Pakhtunkhwa, Pakistan.

Methods: In a retrospective cross-sectional study, subjects/families with CA were recruited from district hospitals and community centers.

Recent advances in immunotoxicity and its impact on human health: causative agents, effects and existing treatments.

Background: A strong immune system is a primary requirement to keep the body safe from different ailments and infections. A human knowingly or unknowingly often comes to the exposure of many foreign substances such as pollutants, chemicals, metals and drugs that affect the immune system. Though some of these substances are known to exert immunotoxicity, their precise role as immunotoxicant is still unidentified, hence, the testing of these substances has to be taken into account.

Recent Developments and Potential for Clinical Use of Casein as a Drug Carrier.

Background: The development of drug delivery carriers is the key area of research in the field of novel drug delivery systems. To date, a long list of carriers has been identified for this purpose but the deliveries of poorly water-soluble active substances are still facing challenges and hence, such substances are pharmacologically unsafe and economically incompetent.

Objective: This article aims to review the applications of casein as a drug carrier and its potential for clinical use.

Profiling, monitoring and conserving caterpillar fungus in the Himalayan region using anchored hybrid enrichment markers.

The collection of caterpillar fungus accounts for 50-70% of the household income of thousands of Himalayan communities and has an estimated market value of $5-11 billion across Asia. However, Himalayan collectors are at multiple economic disadvantages compared with collectors on the Tibetan Plateau because their product is not legally recognized. Using a customized hybrid-enrichment probe set and market-grade caterpillar fungus (with samples up to 30 years old) from 94 production zones across Asia, we uncovered clear geography-based signatures of historical dispersal and significant isolation-by-distance among caterpillar fungus hosts.

Sequestration of Anionic and Cationic Dyes through Thermally Activated Slate and Their Kinetics and Thermodynamic Characteristics.

Adsorption is one of the most common and most robust techniques for the decontamination approach of effluents, owing to its design flexibility, simplicity, cost effectiveness, and high efficiency. However, its application is limited on a large scale due to its cost. The current study investigates the use of low-cost, ecofriendly, and ubiquitous thermally activated clay material.

Modulation of gut microbiota with Ayurveda diet and lifestyle: A review on its possible way to treat type 2 diabetes.

Background: The prevalence of type 2 diabetes (T2D) has increased substantially in the past few decades throughout the world. In India, the epidemic of diabetes continues to increase irrespective of area, status, and age. Despite various scientific societies involved in the treatment of diabetes, still, the burden of diabetes keeps growing.

A comprehensive review on pollution status and associated health risk assessment of human exposure to selected heavy metals in road dust across different cities of the world.

In order to expound on the present situation and potential risk of road dust heavy metals in major cities, a total of 114 literatures mainly over the past two decades, involving more than 5000 sampling sites in 61 cities of 21 countries, were screened through the collection and analysis of research papers. The concentration, sources, distribution, health risk, sample collection, and analytical methods of heavy metal research on road dust in cities around the world are summarized. The results show that Cd, Zn, and Cu in many urban road dusts in the world are higher than the grade II of the Chinese maximum allowable concentration of potentially toxic elements in the soil.

Hydrothermal Extraction of Amorphous Silica from Locally Available Slate.

Slate is a naturally available aluminous silicate based material and can be used as a good source for silica extraction. In the current investigation, the slate sample was passed through calcination and acid leaching processes to decrease alumina contents and other major constituents. Silica extraction was performed by alkaline hydrothermal treatment of a given slate sample followed by acidic precipitation.

Structural Evolution and Microwave Dielectric Properties of Ba Sr TiO, (0.0 ≤ ≤ 0.06) Ceramics.

The structural, microstructural, and microwave dielectric properties of Ba Sr TiO, (0.0 ≤ ≤ 0.06) ceramics samples synthesized by a conventional route were investigated.

Morpho-palynological investigation of gymnospermal flora from subalpine and alpine zones of northern Pakistan using LM and SEM.

The pollen morphology, with special reference to exine sculpture, of some species of the gymnosperms was assessed for the first time from the subalpine and alpine zones of western Himalayas northern Pakistan. The pollen of all these species is airborne and allergenic, so pollen morphology helps for identification of this allergenic pollen at specific level. Different morpho-palynological characteristics were analyzed including size range of pollen, polar and equatorial diameter ratio, exine ornamentation, sculpturing, exine thickness, pollen type, and shape.

There is plenty of room at the top: generation of hot charge carriers and their applications in perovskite and other semiconductor-based optoelectronic devices.

Hot charge carriers (HC) are photoexcited electrons and holes that exist in nonequilibrium high-energy states of photoactive materials. Prolonged cooling time and rapid extraction are the current challenges for the development of future innovative HC-based optoelectronic devices, such as HC solar cells (HCSCs), hot energy transistors (HETs), HC photocatalytic reactors, and lasing devices. Based on a thorough analysis of the basic mechanisms of HC generation, thermalization, and cooling dynamics, this review outlines the various possible strategies to delay the HC cooling as well as to speed up their extraction.

Impact of wind speed and air pollution on COVID-19 transmission in Pakistan.

This study investigated the effect of wind speed and air pollution on COVID-19 from March 10, 2020, to October 04, 2020, in Pakistan. Wind speed and COVID-19 had positive correlation in Pakistan and its provinces. The inverted U-shaped dose-response curve was found for wind speed and COVID-19 in Punjab.

In silico analysis of quranic and prophetic medicinals plants for the treatment of infectious viral diseases including corona virus.

Coronavirus disease (COVID-19) is an infection of the respiratory system caused by single standard RNA viruses named as Severe Acute Respiratory Syndrome 2 (SARS-CoV-2). The disease appeared as a serious problem and the leading cause of death in human beings throughout the world. The main source of different phytochemicals are plants, which helps in the development of new drugs against various ailments.

network-based analysis of drugs used against COVID-19: Human well-being study.

Introduction: Researchers worldwide with great endeavor searching and repurpose drugs might be potentially useful in fighting newly emerged coronavirus. These drugs show inhibition but also show side effects and complications too. On December 27, 2020, 80,926,235 cases have been reported worldwide.

A comparative study on the effects of selected pesticides on hemato-biochemistry and tissue histology of freshwater fish (Hamilton, 1822).

The aim of the present study was to investigate the comparative effects of pesticides Chlorfenapyr, Dimethoate and Acetamiprid on the health of under long term exposure. Eighty were divided in four equal groups; one control and three treated groups. The blood was collected from both control and treated groups at intervals of 10th, 20th and 30th days for hemato-biochemistry and histopathological alterations.

Antidiabetic effect of aqueous-ethanol extract from the aerial parts of .

is used for the management of diabetes mellitus in the Indian subcontinent. The present work aimed to validate the traditional claim of the plant in diabetes mellitus. studies were conducted using α-glucosidase and α-amylase assays whereas streptozotocin-nicotinamide-induced diabetic Wistar rats were used for study.