Objective: To evaluate the Type 2 Diabetes (T2D) risk variants in the Pashtun ethnic population of Khyber Pakhtunkhwa using nascent whole-exome sequencing (WES) to better understand the pathogenesis of this complex polygenic disorder. Methodology: A total of 100 confirmed patients with T2D of Pashtun ethnicity were included in the study, DNA was extracted from whole blood samples, and paired-end libraries were prepared using the Illumina Nextera XT DNA library kit carefully following the manufacturer’s instructions. Illumina HiSeq 2000 was used to obtain sequences of the prepared libraries followed by bioinformatics data analysis. Results: A total of n=11 pathogenic/likely pathogenic variants were reported in the CAP10, PAX4, IRS-2, NEUROD1, CDKL1 and WFS1. Among the reported variants CAP10/rs55878652 (c.1990-7T>C; p.Leu446Pro) and CAP10/rs2975766 (c.1996A>G; p.Ile666Val) identified were novel, and have not yet been reported for any disease in the database. The variants CAP10/rs7607759 (c.1510A>G, p.Thr504Ala), PAX4/rs712701 (c.962A>C; p.His321Pro), PAX4/ rs772936097 (c.748-3delT; p.Arg325Trp), IRS-2/rs1805097 (c.3170G>A; p.Gly1057Asp), NEUROD1/rs1801262 (c.133A>G; p.Thr45Ala), CDKL1/rs77152992 (c.1226C>T; p.Pro409Leu), WFS1/rs1801212 (c.997G>A; p.Val333Ile), WFS1/rs1801208 (c.1367G>A; p.Arg456His), and WFS1/rs734312 (c.1832G>A; p.Arg611His) are previously identified in other ethnic populations. Our study reconfirms the associations of these variants with T2D in the Pakistani Pashtun population. Conclusion In-silico analysis of exome sequencing data suggests a statistically substantial association of all (n=11) identified variants with T2D in the Pashtun ethnic population. This study may serve as a foundation for performing future molecular studies aimed at unraveling T2D associated genes.
type 2 diabetes ; bioinformatics ; whole exome sequencing

The objective of this study was to assess misconceptions, hesitancy and efficacy of COVID-19 Vaccine among Faculty, House Officers (HO) and Postgraduates (PG) dental trainees towards the novel COVID-19 vaccine and to assess the association between COVID-19 vaccine acceptance and conspiracy beliefs. A cross sectional study was conducted on 150 participants from Sardar Begum Dental hospital, Peshawar, Khyber Pakhtunkhwa. A self-administered questionnaire was developed with questions related to perception of participants regarding misconceptions, safety, hesitancy and efficacy of COVID-19 Vaccination. The questionnaire comprised of 26 closed-ended questions. Data was analyzed using SPSS statistical package 26.0. More than half of the participants (87.3%) reported to be tested positive for COVID-19 at some point. Majority of participants (87.3%) reported that they were vaccinated and 86.7% reported that they had post-vaccination reactions such as pain in arm, fever and body aches. A notable number of participants that were part of the study believed in the misconceptions related to the COVID-19 vaccine. This study concluded that despite widespread vaccination awareness campaigns, significant number of dental surgeons believed in misconceptions regarding COVID-19 vaccination that may pose a significant challenge to Pakistan's COVID-19 immunization program.

Abstract Since the mid-1980s, the average age of first marriage has risen to roughly 25 years in various East and Southeast Asian countries. Pakistan is one of the South Asian countries where late marriages are becoming more common and therefore exploring the reasons for delayed marriages is worth investigating. Hence, the current study typically focuses on exploring factors undertaken while making decisions for marriage, explaining delayed marriages in Pakistan. Purposive sampling was used to select 14 participants and semi-structured interviews were conducted and analysed using IPA. The results highlighted key themes which include; physical/personal, financial, familial sociocultural factors, along with key demographic factors (education of women, caste system, and family size). Appearance and effective distinctiveness were also considered important among the personal/physical aspects based themes of the study, while in financial factors, the key codes were inability to find a good match due to financial requirements, dowry, status quo, and comparisons with relatives. The findings of this study will contribute to a better understanding of delayed marriageability in societies with collectivist cultures, like Pakistan. The results of this research will help family counsellors to assist parents on how to make successful decisions timely to end the social problem of late marriages.

Adoption of protective behaviours is a significant intervention to deal with the current COVID-19 outbreak, even if we get a cure. This study aimed to investigate the effect of risk perceptions, fear and myths about COVID-19 infection susceptibility on protective behaviors in the Pakistani population. An online survey was conducted in Pakistan with a sample size of N=440. A questionnaire was administered in the Urdu language about people’s perceptions of risk, fear, myths, and protective behaviors about COVID-19 infection. Results revealed that perceptions of risk about COVID-19 infection susceptibility had a significant positive effect on protective behaviours. Fear about COVID-19 was significantly correlated with protective behaviors but was not a significant predictor of protective behaviors. Myths about COVID-19 infection were not a significant correlate of protective behaviors. The present sample was found optimistically biased about the susceptibility for COVID-19 infection. Surprisingly, this study provided significant evidence about the adaptive nature of optimistic bias because optimistic estimates about COVID-19 infection susceptibility were significantly predicting protective behaviors. Further studies are suggested to investigate the adoptive nature of optimistic bias related to COVID-19 infection susceptibility.

Background: and Purpose Recent studies suggested an increased incidence of cerebral venous thrombosis (CVT) during the coronavirus disease 2019 (COVID-19) pandemic. We evaluated the volume of CVT hospitalization and in-hospital mortality during the 1st year of the COVID-19 pandemic compared to the preceding year. Methods: We conducted a cross-sectional retrospective study of 171 stroke centers from 49 countries. We recorded COVID-19 admission volumes, CVT hospitalization, and CVT in-hospital mortality from January 1, 2019, to May 31, 2021. CVT diagnoses were identified by International Classification of Disease-10 (ICD-10) codes or stroke databases. We additionally sought to compare the same metrics in the first 5 months of 2021 compared to the corresponding months in 2019 and 2020 (ClinicalTrials.gov Identifier: NCT04934020). Results: There were 2,313 CVT admissions across the 1-year pre-pandemic (2019) and pandemic year (2020); no differences in CVT volume or CVT mortality were observed. During the first 5 months of 2021, there was an increase in CVT volumes compared to 2019 (27.5%; 95% confidence interval [CI], 24.2 to 32.0; P<0.0001) and 2020 (41.4%; 95% CI, 37.0 to 46.0; P<0.0001). A COVID-19 diagnosis was present in 7.6% (132/1,738) of CVT hospitalizations. CVT was present in 0.04% (103/292,080) of COVID-19 hospitalizations. During the first pandemic year, CVT mortality was higher in patients who were COVID positive compared to COVID negative patients (8/53 [15.0%] vs. 41/910 [4.5%], P=0.004). There was an increase in CVT mortality during the first 5 months of pandemic years 2020 and 2021 compared to the first 5 months of the pre-pandemic year 2019 (2019 vs. 2020: 2.26% vs. 4.74%, P=0.05; 2019 vs. 2021: 2.26% vs. 4.99%, P=0.03). In the first 5 months of 2021, there were 26 cases of vaccine-induced immune thrombotic thrombocytopenia (VITT), resulting in six deaths. Conclusions During the 1st year of the COVID-19 pandemic, CVT hospitalization volume and CVT in-hospital mortality did not change compared to the prior year. COVID-19 diagnosis was associated with higher CVT in-hospital mortality. During the first 5 months of 2021, there was an increase in CVT hospitalization volume and increase in CVT-related mortality, partially attributable to VITT.

Present research intended to investigate the mediating role of affectivity in the association between Emotional Intelligence (EI) and life satisfaction. Sample of the study was consisted of N=300 medical students. The ability emotional intelligence scale, positive and negative affectivity schedule, and satisfaction with life scale were used to operationalize the constructs of current study. Results of the present study inveterate the proposed hypotheses as life satisfaction had significant positive relationship with positive affect whereas it was significantly and negatively co-related with negative affect. Meditational analysis revealed that EI had significant indirect effect on satisfaction with life through negative and positive affectivity. This study contributed to the literature of association between emotional intelligence and subjective wellbeing in which both component of subjected wellbeing i.e., cognitive component and affective component were studied.

COVID-19/virology* ; Cities ; Environmental Monitoring ; Genome, Viral ; Humans ; Infection Control/methods* ; Pakistan ; RNA, Viral/genetics* ; SARS-CoV-2/genetics* ; Sewage/virology*

Objective: To evaluate the anti-angiogenic and anticancer activities of Psidium guajava leaf extracts against angiogenesis-dependent colorectal cancer. Methods: Three extracts were produced using distilled water, ethanol, and n-hexane as solvents. The extracts were physically characterised through gas chromatography-mass spectrometry, ultraviolet-visible spectroscopy, and Fourier transform infrared spectroscopy. Their antioxidant activity was evaluated using the 2,2-diphenyl-1-picrylhydrazyl, total phenolic content, and total flavonoid content assays. To assess their anti-angiogenic activity, cell viability and rat aortic ring assays were conducted, while cell migration, tube formation, colony formation, and VEGF ELISA assays were conducted to elucidate their effects on different aspects of angiogenesis. Molecular docking was used to assess the anti- angiogenic potential of some possible compounds in the extracts. Tumour spheroid assay was used to assess the extracts' potential as a treatment for colorectal cancer. Results: The ethanol extract showed the best antioxidant activity. The distilled water and ethanol extracts exhibited more inhibitory activity against EA.hy926 cell viability and aortic ring microvessel growth. In addition, the ethanol extract performed significantly better than the distilled water extract against cell migration and colony formation, and VEGF expression of the cells was suppressed by the ethanol extract. Both the distilled water and ethanol extracts showed significant inhibitory effect on EA.hy926 tube formation and tumour spheroids consisting of EA.hy926 and HCT116 cells. The ethanol extract contained β-caryophyllene and β-elemene by phytochemical analysis and subsequent docking studies, which may contribute to its anti-angiogenic activity. Conclusions: The ethanol extract of Psidium guajava has potential in the treatment of colorectal cancer through the inhibition of angiogenesis.

PURPOSE: Partner and localizer of BRCA2 (PALB2) is a breast cancer susceptibility gene that plays an important role in DNA repair. This is the first study assessing the prevalence of PALB2 mutations in early-onset and familial breast/ovarian cancer patients from Pakistan. MATERIALS AND METHODS: PALB2 mutation screening was performed in 370 Pakistani patients with early-onset and familial breast/ovarian cancer, who were negative for BRCA1, BRCA2, TP53, CHEK2, and RAD51C mutations, using denaturing high-performance liquid chromatography analysis. Mutations were confirmed by DNA sequencing. Novel PALB2 alterations were analyzed for their potential effect on protein function or splicing using various in silico prediction tools. Three-hundred and seventy-two healthy controls were screened for the presence of the identified (potentially) functional mutations. RESULTS: A novel nonsense mutation, p.Y743*, was identified in one familial breast cancer patient (1/127, 0.8%). Besides, four in silico-predicted potentially functional mutations including three missense mutations and one 5' untranslated region mutation were identified: p.D498Y, novel p.G644R, novel p.E744K, and novel c.-134_-133delTCinsGGGT. The mutations p.Y743* and p.D498Y were identified in two familial patients diagnosed with unilateral or synchronous bilateral breast cancer at the ages of 29 and 39, respectively. The other mutations were identified in an early-onset (≤ 30 years of age) breast cancer patient each. All five mutations were absent in 372 healthy controls suggesting that they are disease associated. CONCLUSION: Our findings show that PALB2 mutations account for a small proportion of early-onset and hereditary breast/ovarian cancer cases in Pakistan.
5' Untranslated Regions ; Breast Neoplasms ; Chromatography, Liquid ; Codon, Nonsense ; Computer Simulation ; DNA Repair ; Germ-Line Mutation ; Humans ; Mass Screening ; Mutation, Missense ; Pakistan ; Prevalence ; Sequence Analysis, DNA

PURPOSE: Mid-upper-arm circumference (MUAC) is considered an alternative screening method for obesity. The aims of this investigation were to examine the ability of MUAC to correctly identify children with elevated body mass index (BMI) and to determine the best MUAC cutoff point for identification of children with high BMI. METHODS: Anthropometric measurements (height, weight, and MUAC) from a cross-sectional sample of 7,921 Pakistani children aged 5–14 years were analyzed. Pearson correlation coefficients between MUAC and other anthropometric measurements were calculated. Receiver operating characteristic curve analysis was used to determine the optimal MUAC cutoff point for identifying children with high BMI. RESULTS: Among 7,921 children, the mean (±standard deviation) age, BMI, and MUAC were 10.00 (±2.86 years), 16.16 (±2.66 kg/m2), and 17.73 (±2.59 cm), respectively. The MUAC had a strong positive correlation with BMI. The optimal MUAC cutoff points indicating elevated BMI in boys ranged from 16.76 to 22.73, while the corresponding values in girls ranged from 16.38 to 20.57. CONCLUSION: MUAC may be used as a simple indicator of overweight/obesity in children, with reasonable accuracy in clinical settings.
Body Mass Index ; Body Weight ; Child ; Female ; Humans ; Mass Screening ; Methods ; Obesity ; Pakistan ; Public Health ; ROC Curve