Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan.

Background: Hereditary motor and sensory neuropathy (HMSN) refers to a group of inherited progressive peripheral neuropathies characterized by reduced nerve conduction velocity with chronic segmental demyelination and/or axonal degeneration. HMSN is highly clinically and genetically heterogeneous with multiple inheritance patterns and phenotypic overlap with other inherited neuropathies and neurodegenerative diseases. Due to this high complexity and genetic heterogeneity, this study aimed to elucidate the genetic causes of HMSN in Pakistani families using Whole Exome Sequencing (WES) for variant identification and Sanger sequencing for validation and segregation analysis, facilitating accurate clinical diagnosis.

Monte Carlo calculations of target fragments from helium and carbon ion interactions with water.

When high energetic heavy ions interact with any target, short range, high linear energy transfer (LET) target fragments are produced. These target fragments (TFs) can give a significant dose to the healthy tissue during heavy ion cancer therapy, and when cosmic radiation interacts with astronauts. This paper presents Monte Carlo simulations, using the Particle and Heavy Ion Transport code System (PHITS), to characterize target fragments from reactions of helium and carbon ions with water.

Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families.

Background: Hereditary Spastic Paraplegias (HSPs) and Hereditary Cerebellar Ataxias (HCAs) are progressive neurodegenerative disorders encompassing a spectrum of neurogenetic conditions with significant overlaps of clinical features. Spastic ataxias are a group of conditions that have features of both cerebellar ataxia and spasticity, and these conditions are frequently clinically challenging to distinguish. Accurate genetic diagnosis is crucial but challenging, particularly in resource-limited settings.

Management of Paraquat Poisoning-The Way Forward.

Ahmed A, Prasad A, Bhattacharjee A. Management of Paraquat Poisoning-The Way Forward. Indian J Crit Care Med 2024;28(8):722-723.

Blood-brain barrier disruption and edema formation due to prolonged starvation in wild-type mice.

Introduction: Different types of diseases have been treated by restricted caloric intake or fasting. Although during this long time, fasting protective measures, for example, supplements, are given to the patients to protect vital organs such as the liver and kidney, little attention is given to the brain. The current research aims to investigate hypoglycemia due to prolonged fasting disrupts blood-brain barrier (BBB) in mice.

Hypophosphatemia in Chronic Obstructive Pulmonary Disease Patients Requiring Mechanical Ventilation and Its Impact on Weaning in an Intensive Care Unit of a Tertiary Care Hospital in Eastern India.

Background Hypophosphatemia, defined as a serum phosphate level less than 2.5 mg/dL, is a frequent finding in patients with chronic obstructive pulmonary disease (COPD) and has been speculated to negatively affect weaning outcomes. This study aimed to determine the incidence of hypophosphatemia in COPD patients requiring mechanical ventilation and evaluate the predictive role of hypophosphatemia as an indicator of successful weaning from mechanical ventilation in such patients admitted to the intensive care unit (ICU) in a tertiary care hospital in eastern India.

Histological, biochemical and immunohistochemical assessments of Roundup®, atrazine, and 2,4-D mixtures on tissue architecture, body fluid conditions, nitrotyrosine protein and Na/K-ATPase expressions in the American oyster, Crassostera virginica.

Pesticides are widely used to control weeds and pests in agricultural settings but harm non-target aquatic organisms. In this study, our objective was to evaluate the effect of short-term exposure (one week) to environmentally relevant concentrations of pesticides mixture (low concentration: 0.4 μg/l atrazine, 0.

Compact rover surveying and laser scanning for BIM development.

This paper presents a custom made small rover based surveying, mapping and building information modeling solution. Majority of the commercially available mobile surveying systems are larger in size which restricts their maneuverability in the targeted indoor vicinities. Furthermore their functional cost is unaffordable for low budget projects belonging to developing markets.

Quality Metrics in Acute Stroke: Time to Own.

: Ahmed A. Quality Metrics in Acute Stroke: Time to Own. Indian J Crit Care Med 2023;27(11):786-787.

Omics data analysis reveals common molecular basis of small cell lung cancer and COVID-19.

The impact of COVID-19 infection on individuals with small cell lung cancer (SCLC) poses a serious threat. Unfortunately, the molecular basis of this severe comorbidity has yet to be elucidated. The present study addresses this gap utilizing publicly available omics data of COVID-19 and SCLC to explore the key molecules and associated pathways involved in the convergence of these diseases.

Hybrid BO-XGBoost and BO-RF Models for the Strength Prediction of Self-Compacting Mortars with Parametric Analysis.

Self-compacting mortar (SCM) has superior workability and long-term durable performance compared to traditional mortar. The strength of SCM, including both its compressive and flexural strengths, is a crucial property that is determined by appropriate curing conditions and mix design parameters. In the context of materials science, predicting the strength of SCM is challenging because of multiple influencing factors.

Anti-lung cancer drug discovery approaches by polysaccharides: an study, quantum calculation and molecular dynamics study.

Lung cancer (LC) is one of the major and risky health defects even the serious cause for death in concurrent era. But no potential drugs even chemotherapeutic agents have been discovered with approval of health safety although some non-toxic biological macromolecules, such as polysaccharides and polysaccharide-protein complexes, have obtained as anti-lung cancer properties. This study conveys the anti-lung cancer properties of 45 polysaccharide derivatives collected from PubChem database.

Characterization and calibration of multiple 2D laser scanners.

This paper presents the comparative evaluation of multiple compact and lightweight 2D laser scanners for their possible backpack based scanning and mapping applications. These scanners include Hokuyo URG-04LX, Slamtec RPLidar A1-M8 and Hokuyo UTM-30LX-EW scanners. Since the technical datasheets provide general information and limited working details, this research presents a thorough study on the performance of each scanner related explicitly to indoor mapping operations.

The Therapeutic Potential of Milk Extracellular Vesicles on Colorectal Cancer.

Colorectal cancer remains one of the leading prevalent cancers in the world and is the fourth most common cause of death from cancer. Unfortunately, the currently utilized chemotherapies fail in selectively targeting cancer cells and cause harm to healthy cells, which results in profound side effects. Researchers are focused on developing anti-cancer targeted medications, which is essential to making them safer, more effective, and more selective and to maximizing their therapeutic benefits.

Success rate of Remdesivir, Convalescent Plasma, and Tocilizumab in moderate to severe Covid-19 pneumonia: our experience in a tertiary care center.

Introduction: After the first case of Covid-19 was identified in Wuhan City, China, the numbers increased rapidly all over the world putting a huge burden on the entire healthcare system. Managing these cases posed a great challenge to the treating clinicians in the absence of targeted therapy. At this juncture, few modalities got approved as EUA (Emergency use under authorization) drugs namely Remdesivir, Convalescent Plasma (CP), and Tocilizumab (TCZ) to treat this deadly disease.

Effects of Different Solvents Extractions on Total Polyphenol Content, HPLC Analysis, Antioxidant Capacity, and Antimicrobial Properties of Peppers (Red, Yellow, and Green ( L.)).

Plants possessing various bioactive compounds and antioxidant components have gained enormous attention because of their efficacy in enhancing human health and nutrition. Peppers ( L.), because of their color, flavor, and nutritional value, are considered as one of the most popular vegetables around the world.

On-going consequences of in utero exposure of Pb: An epigenetic perspective.

Epigenetic modifications by toxic heavy metals are one of the intensively investigated fields of modern genomic research. Among a diverse group of heavy metals, lead (Pb) is an extensively distributed toxicant causing an immense number of abnormalities in the developing fetus via a wide variety of epigenetic changes. As a divalent cation, Pb can readily cross the placental membrane and the fetal blood brain barrier leading to far-reaching alterations in DNA methylation patterns, histone protein modifications, and micro-RNA expression.

Novel mutations in and cause retinitis pigmentosa in Pakistani families.

Aim: To investigate the genetic basis of autosomal recessive retinitis pigmentosa (arRP) in two consanguineous/ endogamous Pakistani families.

Methods: Whole exome sequencing (WES) was performed on genomic DNA samples of patients with arRP to identify disease causing mutations. Sanger sequencing was performed to confirm familial segregation of identified mutations, and potential pathogenicity was determined by predictions of the mutations' functions.

Microwave power penetration enhancement inside an inhomogeneous human head.

The penetration of microwave power inside a human head model is improved by employing a dielectric loaded rectangular waveguide as the transmission source. A multi-layer reflection model is investigated to evaluate the combined material characteristics of different lossy human head tissues at 2.45 GHz.

Effect of Microwave Roasting and Extraction Solvents on the Bioactive Properties of Coffee Beans.

Coffee is an intricate mixture of thousands of chemical compounds that are accountable for its flavor and aroma. Roasting is a key step in the processing of coffee beans. This study assessed the effect of microwave roasting (MW) and extraction solvents (ES) on the total polyphenol content, total flavonoid content, and antioxidant activity of coffee beans.

Hyperglycaemia up-regulates placental growth factor (PlGF) expression and secretion in endothelial cells via suppression of PI3 kinase-Akt signalling and activation of FOXO1.

Placenta growth factor (PlGF) is a pro-inflammatory angiogenic mediator that promotes many pathologies including diabetic complications and atherosclerosis. Widespread endothelial dysfunction precedes the onset of these conditions. As very little is known of the mechanism(s) controlling PlGF expression in pathology we investigated the role of hyperglycaemia in the regulation of PlGF production in endothelial cells.

Medicated multi-targeted alginate-based dressings for potential treatment of mixed bacterial-fungal infections in diabetic foot ulcers.

Recently developed medicated dressings target either bacterial or fungal infection only, which is not effective for the treatment of mixed infections common in diabetic foot ulcers (DFUs). This study aimed to develop advanced bioactive alginate-based dressings (films and wafers) to deliver therapeutically relevant doses of ciprofloxacin (CIP) and fluconazole (FLU) to target mixed bacterial and fungal infections in DFUs. The alginate compatibility with the drugs was confirmed by SEM, XRD, FTIR and texture analysis, while the medicated wafers showed better fluid handling properties than the films in the presence of simulated wound fluid.

The impact of COVID-19 on pregnancy and therapeutic drug development.

Emerging data show that pregnant women with COVID-19 are at significantly higher risk of severe outcomes compared with non-pregnant women of similar age. This review discusses the invaluable insight revealed from vaccine clinical trials in women who were vaccinated and inadvertently became pregnant during the trial period. It further explores a number of clinical avenues in their management and proposes a drug development strategy in line with clinical trials for vaccines and drug treatments for the drug development community.