THBS1 is a new autosomal recessive non-syndromic hearing impairment gene.

Background: Prelingual hearing impairment (HI) is genetically highly heterogenous. Early diagnosis and intervention are essential for psychosocial development. In this study we investigated a consanguineous family from Pakistan with autosomal recessive (AR) non-syndromic sensorineural HI (NSHI).

Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families.

Limb abnormalities are the second most frequent birth defects seen in infants, after congenital heart disease. Over the past 150 years, more than 50 classifications for limb malformations based on morphology and osseous anatomy have been presented. The goal of the current study is to investigate the genetic basis of congenital limb abnormalities in the Pakistani population.

Therapeutic Evaluation of Unani Medicine, Including Single Drugs and Polyherbal Formulations with Special Reference to Neurodegenerative Disorders.

Ethnopharmacological Relevance: Unani remedies are considered safe and can be utilized as a healthcare resource due to the adverse effects of conventional pharmaceuticals. For instance, Donepezil, used to treat alzhemier's disease exerts many adverse effects such as dizziness, vertigo, dryness of mouth. Similarly, Memantine used to slow the neurotoxicity involved in alzhemier's disease also exerts adverse effects like vomiting, tremors and sleep disturbance.

Management of triple-negative breast cancer by natural compounds through different mechanistic pathways.

Triple-negative breast cancer (TNBC) is the most severe form of breast cancer, characterized by the loss of estrogen, progesterone, and human epidermal growth factor receptors. It is caused by various genetic and epigenetic factors, resulting in poor prognosis. Epigenetic changes, such as DNA methylation and histone modification, are the leading mechanisms responsible for TNBC progression and metastasis.

Novel pathogenic variants in HR underlie atrichia with papular lesions in a cohort of 10 families.

Atrichia with papular lesions (APL) is a hair abnormality characterized by loss of hair on the scalp and rest of the body. In a few cases, hair loss is accompanied by the appearance of keratotic papules on the body. It is inherited in an autosomal recessive manner.

Clinical and genetic investigation of 14 families with various forms of short stature syndromes.

Skeletal dysplasias are a heterogeneous group of disorders presenting mild to lethal defects. Several factors, such as genetic, prenatal, and postnatal environmental may contribute to reduced growth. Fourteen families of Pakistani origin, presenting the syndromic form of short stature either in the autosomal recessive or autosomal dominant manner were clinically and genetically investigated to uncover the underlying genetic etiology.

Predictive insights into plant-based compounds as fibroblast growth factor receptor 1 inhibitors: a combined molecular docking and dynamics simulation study.

The discovery of novel therapeutic agents with potent anticancer activity remains a critical challenge in drug development. Natural products, particularly bioactive phytoconstituents derived from plants, have emerged as promising sources for anticancer drug discovery. In this study, we used virtual screening techniques to explore the potential of bioactive phytoconstituents as inhibitors of fibroblast growth factor receptor 1 (FGFR1), a key signaling protein implicated in cancer progression.

Exploring progress in iron supplement formulation approaches for treating iron deficiency anemia through bibliometric and thematic analysis.

Anemia is a severe health issue that affects around one-third of the global population. Therefore, the present study aims to conduct a bibliometric analysis to investigate the research trends regarding advancements on iron formulations in treating iron deficiency anemia via oral or parenteral route. This study adopts thematic and bibliometric methods on existing research on novel iron formulations.

Calcium Channel Inhibitory Effect of Marjoram ( L.): Its Medicinal Use in Diarrhea and Gut Hyperactivity.

Background: The leaves of () are traditionally renowned for treating diarrhea and gut spasms. This study was therefore planned to evaluate its methanolic extract.

Methods: Gas chromatography-mass spectrometry (GC-MS) was used to identify the phytochemicals, and Swiss albino mice were used for an antidiarrheal assay.

Spectrum of infections in different regimens of post-induction chemotherapy in acute myeloid leukemia (): A comparative retrospective study.

Background: Patients diagnosed with acute myeloid leukemia (AML) face a heightened susceptibility to infections, which significantly elevates their risk of mortality and disability. The intensity of the chemotherapy treatment and its specific focus on inhibiting myeloid cell divisions render patients especially vulnerable, particularly during the early stages of chemotherapy. This vulnerability is compounded by the occurrence of repeated episodes of prolonged neutropenia, leaving patients highly susceptible to infections.

Pharmacological Basis for the Antidiarrheal and Antispasmodic Effects of Cuminaldehyde in Experimental Animals: , and Studies.

Background: Medicinal herbs are frequently used for the management of gastrointestinal disorders because they contain various compounds that can potentially amplify the intended therapeutic effects. Cuminaldehyde is a plant-based constituent found in oils derived from botanicals such as cumin, eucalyptus, myrrh, and cassia and is responsible for its health benefits. Despite the utilization of cuminaldehyde for several medicinal properties, there is currently insufficient scientific evidence to support its effectiveness in treating diarrhea.

Integration of federated learning with IoT for smart cities applications, challenges, and solutions.

In the past few years, privacy concerns have grown, making the financial models of businesses more vulnerable to attack. In many cases, it is hard to emphasize the importance of monitoring things in real-time with data from Internet of Things (IoT) devices. The people who make the IoT devices and those who use them face big problems when they try to use Artificial Intelligence (AI) techniques in real-world applications, where data must be collected and processed at a central location.

Phytochemicals as potential inhibitors of interleukin-8 for anticancer therapy: evaluation and molecular dynamics analysis.

Within the realm of soluble factors that have emerged as potential targets for therapeutic intervention, the chemokine interleukin-8 (IL-8) has garnered attention as a potential contributor to treatment responses in various cancer types. The utilization of naturally occurring anticancer compounds for treating cancer patients has shown substantial advancements in survival rates across early and advanced stages of the disease. research findings provide support for the application of phytochemicals as potential inhibitors of IL-8, and phytochemicals exhibiting a high binding free energy and crucial interactions display promising anticancer properties, positioning them as candidates for future drug development.

New nematode gen. nov., sp. nov. (Nematoda, Dorylaimida, Tylencholaimoidea) from the tropical rainforest, Western Ghats.

During a nematological survey in the Western Ghats a new nematode belonging to the superfamily Tylencholaimoida (Dorylaimida) extracted from the rhizosphere of the soil of grasses, is described and illustrated. , is characterized by females with a body length of 1.3-1.

LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility.

Radial spokes (RS) are T-shaped multiprotein complexes on the axonemal microtubules. Repeated RS1, RS2, and RS3 couple the central pair to modulate ciliary and flagellar motility. Despite the cell type specificity of RS3 substructures, their molecular components remain largely unknown.

Sequence Variants in the Underlying Non-Syndromic Split-Hand/Foot Malformation.

Introduction: Split hand and foot malformation (SHFM) or ectrodactyly is a rare limb deformity characterized by median cleft of the hand and foot with impaired or missing central rays. It can occur as an isolated anomaly or in association with abnormalities of other body parts.

Methods: After delineating the clinical features of two families (A-B), with non-syndromic SHFM, exome and Sanger sequencing were employed to search for the disease-causing variants.

Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families.

Background: Bardet-Biedl Syndrome (BBS) is a rare (1:13,500-1-160,000) heterogeneous congenital disorder, characterized by postaxial polydactyly, obesity, hypogonadism, rod-cone dystrophy, cognitive impairment, and renal abnormalities (renal cystic dysplasia, anatomical malformation). To date about twenty-five genes have been identified to cause BBS, which accounts for about 80% of BBS diagnosis.

Methods: In the current study, we have performed mutational screening of four Pakistani consanguineous families (A-D) with clinical manifestation of BBS by microsatellite-based genotyping and whole exome sequencing.

Advancements in technology and innovation for sustainable agriculture: Understanding and mitigating greenhouse gas emissions from agricultural soils.

In recent decades, Technology and Innovation (TI) have shown tremendous potential for improving agricultural productivity and environmental sustainability. However, the adoption and implementation of TI in the agricultural sector and its impact on the environment remain limited. To gain deeper insights into the significance of TI in enhancing agricultural productivity while maintaining environmental balance, this study investigates 21 agriculture-dependent Asian countries.

Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.

Background: Anophthalmia and microphthalmia are severe developmental ocular disorders that affect the size of the ocular globe and can be unilateral or bilateral. The disease is found in syndromic as well as non-syndromic forms. It is genetically caused by chromosomal aberrations, copy number variations and single gene mutations, along with non-genetic factors such as viral infections, deficiency of vitamin A and an exposure to alcohol or drugs during pregnancy.

Formulation of lemongrass oil ()-loaded solid lipid nanoparticles: an in vitro assessment study.

Unlabelled: (DC) stapf. (Gramineae) is a herb known worldwide as lemongrass. The oil obtained, i.