Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population.

Neuromuscular diseases (NMD) are a group of neurological diseases that manifest with various clinical symptoms affecting different components of the peripheral nervous system, which play a role in voluntary body movements control. The primary objective of this study is to explore the diagnostic efficacy of a combined genetic and biochemical testing approach for patients with neuromuscular diseases with diverse presentations in a population with high rate of consanguinity. Genetic testing was performed using selected Next Generation Sequencing (NGS) gene panels and whole exome sequencing on the peripheral blood sample from the patients.

A pilot study: Examining cytoskeleton gene expression profiles in Pakistani children with autism spectrum disorder.

Background: Finding effective pharmacological interventions to address the complex array of neurodevelopmental disorders is currently an urgent imperative within the scientific community as these conditions present significant challenges for patients and their families, often impacting cognitive, emotional, and social development. In this study, we aimed to explore non-invasive method to diagnose autism spectrum disorders (ASD) within Pakistan children population and to identify clinical drugs for its treatment.

Aims: The current report outlines a comprehensive bidirectional investigation showcasing the successful utilization of saliva samples to quantify the expression patterns of profilins (PFN1, 2, and 3); and ERM (ezrin, radixin, and moesin) proteins; and additionally moesin pseudogene 1 and moesin pseudogene 1 antisense (MSNP1AS).

Compositional profiling and sensory analysis of cauliflower by-products-enriched muffins.

Cauliflower ( var) by-products (leaves, stems, stalks) (CBP) were successfully utilized in muffins as a model system and their feasibility of incorporation was investigated. CBP powder-based muffin formulations were made by the progressive replacement of wheat flour (WF) with 10%, 20%, and 30% of CBP. The physicochemical, pasting properties, antioxidant potential, textural characteristics, and sensorial attributes were analyzed.

Predictive value of α-synuclein expression in peripheral blood of multiple sclerosis patients: A two-dimensional assessment of a selected biomarker.

Introduction: Our study aimed to evaluate whether assessing α-synuclein expression levels in blood samples could provide a reliable and straightforward alternative to existing diagnostic and prognostic methods for neurodegenerative disorders, including multiple sclerosis (MS). We specifically investigated if α-synuclein and IL-6 expression levels from serum and peripheral blood mononuclear cells (PBMCs) could accurately predict MS severity in patients using a two-dimensional approach.

Methods: We designed a case-control study to analyze the expression of α-synuclein and IL-6 in the peripheral blood of an MS patient group (n = 51) and a control group (n = 51).

Effect of storage on physicochemical attributes of ice cream enriched with microencapsulated anthocyanins from black carrot.

The present study was conducted to investigate the effect of storage on quality attributes of microencapsulated black carrot anthocyanins-enriched ice cream. Purposely, black carrot anthocyanins were obtained using ethanolic extraction. Later on, extracts were acidified and microencapsulated with gum arabic and maltodextrin (1:1).

Photocatalytic degradation of imidacloprid using AgO/CuO composites.

Imidacloprid is one of the most commonly used neonicotinoid pesticides that has been identified as a neurotoxin for various non-target organisms. It binds to the central nervous system of organisms, causing paralysis and eventually death. Thus, it is imperative to treat waterwaters contaminated with imidacloprid using an efficient and cost effective method.

Exploring the multifunctional roles of quantum dots for unlocking the future of biology and medicine.

With recent advancements in nanomedicines and their associated research with biological fields, their translation into clinically-applicable products is still below promises. Quantum dots (QDs) have received immense research attention and investment in the four decades since their discovery. We explored the extensive biomedical applications of QDs, viz.

Evaluating COVID-19 risk under the estimation of population mean using two attributes.

The virus of COVID-19 has affected humans physically, mentally, and economically all over the world. Each country's development level, resources, and immunization to have coping capacity against this covid19 differ country-wise. Thus, understanding socioeconomic vulnerability and coping capacity among countries under different health systems can be crucial.

Myricetin: A comprehensive review on its biological potentials.

Myricetin is a critical nutritive component of diet providing immunological protection and beneficial for maintaining good health. It is found in fruits, vegetables, tea, and wine. The families , , , and are the richest sources of myricetin.

Therapeutic perspective of thymoquinone: A mechanistic treatise.

The higher utilization of fruits and vegetables is well known to cure human maladies due to the presence of bioactive components. Among these compounds, thymoquinone, a monoterpene and significant constituent in the essential oil of ., has attained attention by the researchers due to their pharmacologies perspectives such as prevention from cancer, antidiabetic and antiobesity, prevention from oxidative stress and cardioprotective disorder.