Cystic fibrosis in Pakistan: population harbouring rare variants non-responsive to CFTR modulators and the dilemma of poor health facilities.

Background: Pathogenic mutations in the CFTR gene disrupt the normal function of the chloride ion channel CFTR protein, resulting in Cystic Fibrosis (C.F.).

Molecular dynamics simulation based prediction of T-cell epitopes for the production of effector molecules for liver cancer immunotherapy.

Liver cancer is the sixth most frequent malignancy and the fourth major cause of deaths worldwide. The current treatments are only effective in early stages of cancer. To overcome the therapeutic challenges and exploration of immunotherapeutic options, broad spectral therapeutic vaccines could have significant impact.

Development, optimization, and characterization of polymeric micelles to improve dasatinib oral bioavailability: Hep G2 cell cytotoxicity and in vivo pharmacokinetics for targeted liver cancer therapy.

The efficacy of dasatinib (DAS) in treating hepatocellular carcinoma (HCC) is hindered by its poor bioavailability, limiting its clinical potential. In this study, we explored the use of TPGS-Soluplus micelles as an innovative drug delivery platform to enhance DAS solubility, stability, and therapeutic impact. A series of TPGS-Soluplus copolymers were synthesized, varying the D-α-tocopheryl polyethylene glycol succinate (TPGS) forms (1000, 2000, and 3500) and adjusting the TPGS to Soluplus weight ratios (1:1, 1:2, and 1:3).

Exploring the diversity of gene mutations in cystic fibrosis individuals of South Asia.

Objective: Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the gene. This study aimed to identify the spectrum of variants reported in individuals with CF from South Asia (ISA).

Data Sources And Study Selection: We conducted a PubMed search for variants reported in ISA.

Prevalence of rs1260326 Variant in Subjects with Obesity Associated NAFLD and T2DM: A Case-Control Study in South Punjab, Pakistan.

The glucokinase regulatory protein (GCKR) regulates glycogen metabolism and insulin secretion, and the rs1260326 is a putative single nucleotide polymorphism (SNP) associated with metabolic disorders including nonalcoholic fatty liver disease (NAFLD) and type 2 diabetes mellitus (T2DM). This study was conducted to investigate the genetic association of the rs1260326 in NAFLD and T2DM in our population. NAFLD ( = 103), T2DM ( = 100), and control ( = 100) samples were collected and genotyped for rs1260326 by tetra-arm PCR.

Potential of GJA8 gene variants in predicting age-related cataract: A comparison of supervised machine learning methods.

Cataracts are the problems associated with the crystallins proteins of the eye lens. Any perturbation in the conformity of these proteins results in a cataract. Age-related cataract is the most common type among all cataracts as it accounts for almost 80% of cases of senile blindness worldwide.

Association of genotypes at rs438228855 in bovine SLC35A3 receptor gene of Pakistani cattle with the susceptibility to develop complex vertebral malformation.

The aim of this study was to report the genotype and allelic frequency at rs438228855 (G > T) in SLC35A3 receptor gene and its association with a complex vertebral malformation (CMV) in the enrolled Pakistani cattle. Our results indicated that allelic and genotype frequency at rs438228855 varied non-significantly (p > .05) among the three enrolled cattle breeds.

Experimental Validation of MHC Class I and II Peptide-Based Potential Vaccine Candidates for Human Papilloma Virus Using Sprague-Dawly Models.

Human papilloma virus (HPV) causes cervical and many other cancers. Recent trend in vaccine design is shifted toward epitope-based developments that are more specific, safe, and easy to produce. In this study, we predicted eight immunogenic peptides of CD4+ and CD8+ T-lymphocytes (MHC class I and II as M1 and M2) including early proteins (E2 and E6), major (L1) and minor capsid protein (L2).

Ingraining Polio Vaccine Acceptance through Public Service Advertisements in the Digital Era: The Moderating Role of Misinformation, Disinformation, Fake News, and Religious Fatalism.

Recently, misinformation and disinformation, as well as fake news, have become global threats to public health owing to their role in spreading viral health hazard information. The growing explosive religious fatalistic views presented on social media and widespread misinformation, disinformation, and fake news can result in detrimental outcomes in adopting protective behavior. The moderating implications of misinformation and religious fatalism can be severe, leading to adverse effects on polio vaccine acceptance.

First report on the probiotic potential of isolated from raw goat milk.

Probiotics are considered effective microbial dietary supplements that provide beneficial effects to consumers, usually by restoring or improving gut microflora. Goat milk is one of the rich sources of probiotics as well as nutrients. Therefore, the primary aim of this research was to isolate and evaluate the potential of novel indigenous probiotic strains present in goat milk.

Experimental Study of Potential CD8 Trivalent Synthetic Peptides for Liver Cancer Vaccine Development Using Sprague Dawley Rat Models.

Background: Liver cancer (LC) is the most devastating disease affecting a large set of populations in the world. The mortality due to LC is escalating, indicating the lack of effective therapeutic options. Immunotherapeutic agents may play an important role against cancer cells.

Molecular detection and prevalence of Theileria ovis and Anaplasma marginale in sheep blood samples collected from Layyah district in Punjab, Pakistan.

Theileria ovis and Anaplasma marginale are intracellular pathogens affecting a wide range of animals, causing huge economic losses worldwide. The present study reports the molecular evidence of Theileria ovis and Anaplasma marginale in sheep blood samples (N = 218) collected from Layyah district in Punjab (Pakistan), where economy heavily relies on livestock. A 520 base pair fragment specific for 18S ribosomal RNA gene of Theileria ovis was PCR amplified in 23/218 (10.

Genetic Causes of Oculocutaneous Albinism in Pakistani Population.

Melanin pigment helps protect our body from broad wavelength solar radiation and skin cancer. Among other pigmentation disorders in humans, albinism is reported to manifest in both syndromic and nonsyndromic forms as well as with varying inheritance patterns. Oculocutaneous albinism (OCA), an autosomal recessive nonsyndromic form of albinism, presents as partial to complete loss of melanin in the skin, hair, and iris.

Multi-omic studies on missense PLG variants in families with otitis media.

Otitis media (OM), a very common disease in young children, can result in hearing loss. In order to potentially replicate previously reported associations between OM and PLG, exome and Sanger sequencing, RNA-sequencing of saliva and middle ear samples, 16S rRNA sequencing, molecular modeling, and statistical analyses including transmission disequilibrium tests (TDT) were performed in a multi-ethnic cohort of 718 families and simplex cases with OM. We identified four rare PLG variants c.

Novel Mutations in , , , and Identified in Familial Cases of Prelingual Hearing Loss.

We report the underlying genetic causes of prelingual hearing loss (HL) segregating in eight large consanguineous families, ascertained from the Punjab province of Pakistan. Exome sequencing followed by segregation analysis revealed seven potentially pathogenic variants, including four novel alleles c.257G>A, c.

Single nucleotide polymorphism (rs7543472) in EPHA2 gene is associated with age-related cataract in subjects enrolled from Multan in southern Punjab: A case-control study.

Objectives: To examine whether Ephrin type A receptor 2 gene polymorphisms are associated with susceptibility to age-related cataract.

Methods: The case-control study was conducted from January to May 2014 in Multan, Pakistan, and comprised patients of age-related cataract enrolled from Nishtar Hospital, Multan, and age-matched healthy controls without any type of cataract from the local population. A questionnaire was used to gather clinical and epidemiological data.

Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6.

Skin pigmentation is a highly heterogeneous trait with diverse consequences worldwide. SLC24A5, encoding a potent K -dependent Na /Ca exchanger, is among the known color-coding genes that participate in melanogenesis by maintaining pH in melanosomes. Deficient SLC24A5 activity results in oculocutaneous albinism (OCA) type 6 in humans.

First Report Regarding the Simultaneous Molecular Detection of Anaplasma marginale and Theileria annulata in Equine Blood Samples Collected from Southern Punjab in Pakistan.

Aim: The present study was designed to check the molecular detection of Anaplasma marginale and Theileria annulata in blood samples of horses and donkeys collected from Dera Ghazi Khan District in Punjab and to document their phylogenetic origin and their association with studied epidemiological factors (sex and age) and complete blood count parameters, if any.

Methods And Results: A total of 195 blood samples were collected from apparently healthy horses (N = 141) and donkeys (N = 54). A.

A simple method for preparing ultra-light graphene aerogel for rapid removal of U(VI) from aqueous solution.

In this study, graphene aerogel (GA) was successfully prepared through a simple hydrothermal method. The resulting GA exhibited a porous network structure with a large specific surface area (350.8 m/g), ultra-light mass and easy separation from water.

A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.

A genetic basis for otitis media is established, however, the role of rare variants in disease etiology is largely unknown. Previously a duplication variant within A2ML1 was identified as a significant risk factor for otitis media in an indigenous Filipino population and in US children. In this report exome and Sanger sequencing was performed using DNA samples from the indigenous Filipino population, Filipino cochlear implantees, US probands, Finnish, and Pakistani families with otitis media.

Identities and frequencies of variants in causing primary congenital glaucoma in Pakistan.

Purpose: Primary congenital glaucoma (PCG) is a clinically and genetically heterogeneous disease. The present study was undertaken to find the genetic causes of PCG segregating in 36 large consanguineous Pakistani families.

Methods: Ophthalmic examination including fundoscopy, or slit-lamp microscopy was performed to clinically characterize the PCG phenotype.

FUT2 Variants Confer Susceptibility to Familial Otitis Media.

Non-secretor status due to homozygosity for the common FUT2 variant c.461G>A (p.Trp154) is associated with either risk for autoimmune diseases or protection against viral diarrhea and HIV.