Exon 11 Mutations in Breast Cancer: A Study From Pakistan.

Breast cancer ranks among the top causes of cancer-related deaths in women around the globe, with genetic mutations in the gene being a frequent cause of breast or ovarian cancer. This study investigates hotspot mutations in exon 11 of the gene among Pakistani women diagnosed with breast cancer. Thirty clinically diagnosed breast cancer patients, all women, were enrolled in the current study, and high-quality DNA was extracted from peripheral blood samples.

Azithromycin, an Antimicrobial Agent, Targets Glycoside Hydrolase Family 35 and Exhibits Potent Curative Activity Against Tea Plants Diseases Caused by .

Tea disease caused by is an emerging fungal disease that significantly reduces the yield and quality of tea in tea-producing regions owing to the lack of effective control methods. In this study, we evaluated the antifungal activity of azithromycin, a macrolide antibiotic, against . In vitro assays demonstrated strong inhibitory activity, with a half-maximal effective concentration (EC) of 140.

Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes.

This study investigates the genetic basis of retinal diseases in four consanguineous families from Pakistan, focusing on mutations in the CNGA3, CACNA1F, and RPGRIP1 genes that are implicated in retinal dysfunctions such as achromatopsia, congenital stationary night blindness, and retinal dystrophies. We identified pathogenic variants in these genes, including the novel missense mutation c.955T > C; p.

Multielectron dynamics, polarization, and Stark shifts for carbon monoxide molecule and molecular ions in a strong laser field.

The ionization of CO, CO+, and CO2+ are quantified in an ultrafast, strong laser field. Measurements were performed over the intensity range from 1014 to 1017 W cm-2. Across this span, the intensity-dependent ionization yields were quantified over eight orders of magnitude in the dynamic range.

Photoluminescence and Stability of 2D Ruddlesden-Popper Halide Perovskites.

Two-dimensional lead halide perovskites are of significant interest for a variety of practical applications. However, the relationships between their composition and properties are not fully clear. Here we investigated photoluminescence from 2D Ruddlesden-Popper perovskites with different bulky spacer cations.

Preparation, characterization, and biological evaluation of hemicellulose-based composites for wound healing.

The development of new strategies and biomaterials to augment the healing process is essential to overcome the emerging challenges encountered in treating and managing chronic wounds. The present study aimed to develop and characterize hemicellulose-based ( seed) 3D composite (sponges) and evaluate their suitability for wound healing and . The composite sponge formulations (CF) were fabricated by blending () seed hemicellulose with other polysaccharides, followed by crosslinking using glutaraldehyde (as crosslinker) and freeze-drying.

NAD-Dependent Epimerase/Dehydratase Serves as a Novel Potential Target for Fluoxastrobin in , the Causal Agent of Tea Foliar Disease.

Tea foliar disease, caused by the fungal pathogen , poses a significant threat to tea production and quality in China. The disease, which includes tea leaf spot and gray blight, severely impacts both tea yield and quality, partly due to the lack of effective epidemiological data and control strategies. Fluoxastrobin, a strobilurin fungicide, has shown promise in controlling various fungal diseases.

Strategic approaches to improve equine breeding and stud farm outcomes.

This review explores advanced strategies for enhancing fertility and optimizing reproductive outcomes in equine breeding programs. Horses, being seasonal breeders, present unique reproductive challenges influenced by environmental and physiological factors such as photoperiods, hormone cycles, and aging. Key approaches discussed include hormonal therapies, artificial light manipulation, and nutritional supplementation to improve ovulation and conception rates during the breeding season.

A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.

Inherited retinal diseases (IRDs) are a group of rare Mendelian disorders that often result in progressive vision loss and potentially to complete blindness at the end stage. In this study, we investigated a large cohort of patients with IRDs from Pakistan, the world's fifth most populous country, which is also characterized by distinctive demographic features, such as a high prevalence of consanguinity, endogamy, and a wide variety of ethnic groups. Specifically, we examined a total of 213 unrelated families (722 affected individuals) from three very large geographical regions.

Sociocultural determinants of health-associated quality of life among Afghan refugees in Pakistan: evidence from a multi-stage cross-sectional study.

Background: In the past few decades, there has been a significant increase in the number of refugees worldwide. Every individual deserves access to the fundamental right to health, and migration can have a substantial beneficial or detrimental effect on one's health. Foreign invasions and political instability in Afghanistan affected neighboring countries with the large influx of refugees.

Exome sequencing identifies a homozygous splice site variant in as the underlying cause of autosomal recessive retinitis pigmentosa in a Pakistani family.

Background: Mutations in gene are the third leading cause of inherited retinal dystrophies (IRDs) in Pakistani families.

Patients: A two-generation consanguineous Pakistani family underwent both clinical and genetic analyses. Clinical examinations included visual acuity test, visual field, fundoscopy, and ocular coherence tomography (OCT).

Microevolution and phylogenomic study of Respiratory Syncytial Virus type A.

Communal respiratory syncytial virus (RSV) causes mild to severe illnesses, predominantly in older adults, or people with certain chronic medical conditions, and in children. Symptoms may include rhinorrhea, cough, fever, and dyspnea. In most cases, the infection is mild and resolves on its own, but in some cases, it can lead to more serious illness such as bronchiolitis or pneumonia.

Photoluminescence and Stability of Dion-Jacobson Tin-Based Halide Perovskites with Different Spacer Cation Chain Length.

Two-dimensional tin halide perovskites are of significant interest for light emitting applications. Here, we investigate the effect of organic cation A on the stability of different Dion-Jacobson tin-based halide perovskites. The ASnBr materials using diammonium cation A with shorter alkyl chains are found to exhibit improved stability, exhibiting dramatic stability difference between the most stable HDASnBr, where HDA denotes 1,6-hexanediammonium, and two materials with 8- and 10-carbon alkyl chain ammonium cations.

Dispersionless Nonhybrid Density Functional.

A dispersion-corrected density functional theory (DFT+D) method has been developed. It includes a nonhybrid dispersionless generalized gradient approximation (GGA) functional paired with a literature-parametrized dispersion function. The functional's 9 adjustable parameters were optimized using a training set of 589 benchmark interaction energies.

Fahr's Syndrome With Hypoparathyroidism in a Patient With Schizophrenia and Iron Deficiency Anemia: A Case Report.

Fahr's syndrome is a rare neurological disorder that shows up as calcium deposits in the brain, affecting motor control and cognitive functions. In this case report, a 45-year-old woman with schizophrenia was diagnosed with Fahr's syndrome, which can be challenging to diagnose due to coexisting neurological comorbidity.

A novel homozygous missense variant in causes cone dystrophy in a consanguineous Pakistani family.

Background: Cone dystrophy is a heterogeneous hereditary retinal disorder with disease symptoms appearing in the late first or early second decades of life.

Methods: A consanguineous Pakistani family with three affected individuals underwent detailed clinical and genetic investigation.

Results: The proband, a 63-years old male, showed severely reduced day vision, a visual acuity of counting fingers (CF), color vision deficiency, high myopia and photophobia.

The Microbial Metabolite Wuyiencin Potentially Targets Threonine Dehydratase in to Achieve Control of Tea Leaf Spot.

Tea leaf spot caused by is a disease that has recently been discovered in the tea plantations of Southwest China and that has a significant negative impact on the yield and quality of tea leaves. Wuyiencin is a nucleotide antimicrobial that is effective against a range of fungal diseases. However, its mode of action is still unclear.

The seventh blind test of crystal structure prediction: structure generation methods.

A seventh blind test of crystal structure prediction was organized by the Cambridge Crystallographic Data Centre featuring seven target systems of varying complexity: a silicon and iodine-containing molecule, a copper coordination complex, a near-rigid molecule, a cocrystal, a polymorphic small agrochemical, a highly flexible polymorphic drug candidate, and a polymorphic morpholine salt. In this first of two parts focusing on structure generation methods, many crystal structure prediction (CSP) methods performed well for the small but flexible agrochemical compound, successfully reproducing the experimentally observed crystal structures, while few groups were successful for the systems of higher complexity. A powder X-ray diffraction (PXRD) assisted exercise demonstrated the use of CSP in successfully determining a crystal structure from a low-quality PXRD pattern.

Retraction of "Toxicological Screening of 4-Phenyl-3,4-dihydrobenzo[]quinolin-2(1)-one: A New Potential Candidate for Alzheimer's Treatment".

[This retracts the article DOI: 10.1021/acsomega.1c00654.

Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.

Genome analysis of individuals affected by retinitis pigmentosa (RP) identified two rare nucleotide substitutions at the same genomic location on chromosome 11 (g.61392563 [GRCh38]), 69 base pairs upstream of the start codon of the ciliopathy gene TMEM216 (c.-69G>A, c.

Enhancement in the dielectric and magnetic properties of Ni-Cu co-doped BaFeCuNiO hexaferrites (0.0 ≤ ≤ 1.0).

Herein, Ni-Cu co-doped barium hexaferrites (BaFeCuNiO, 0.0 ≤ ≤ 1.0 with an interval of 0.

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.

Background: Inherited retinal degenerations (IRDs) are a group of rare genetic conditions affecting retina of the eye that range in prevalence from 1 in 2000 to 1 in 4000 people globally. This review is based on a retrospective analysis of research articles reporting IRDs associated genetic findings in Pakistani families between 1999 and April 2023.

Methods: Articles were retrieved through survey of online sources, notably, PubMed, Google Scholar, and Web of Science.

Consanguinity in northwest Pakistan: evidence of temporal decline.

Pakistan has a high burden of hereditary and congenital anomalies and their incidence rate almost doubles against the background of parental consanguinity. Consanguineous unions (CU) are customary in Pakistan and deeply rooted socio-cultural norms favour CU. This study aimed to elucidate the determinants and temporal change in CU in four northwestern populations of Pakistan.

A Rare Case of Nutcracker Phenomenon Associated With Midgut Malrotation and Congenital Solitary Kidney.

Medical conditions such as the nutcracker phenomenon, midgut malrotation, and congenital solitary kidney are rare. Hereby, we present a 21-year-old South Asian male referred to the nephrology clinic for hypertension and increased serum creatinine and was diagnosed with all three conditions. We briefly reviewed the literature on this subject.