In-silico analysis of potential anticancer drug for NEK7 and PPP1CA proteins overexpressed in pancreatic ductal adenocarcinoma.

NIMA-related kinase 7 (NEK7) and phosphoprotein phosphatase-1 catalytic subunit alpha (PPP1CA) are the most common proteins overexpressed in pancreatic ductal adenocarcinoma, which is the most common type of pancreatic cancer. The goal of the current study was to identify a possible NEK7 and PPP1CA therapeutic inhibitor. For this investigation, 5000 compounds were retrieved from the IMPPAT library of phytochemicals, which were docked with our respective target proteins.

A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome.

Intellectual disability (ID) and retinal dystrophy (RD) are the frequently found features of multiple syndromes involving additional systemic manifestations. Here, we studied a family with four members presenting severe ID and retinitis pigmentosa (RP). Using genome wide genotyping and exome sequencing, we identified a nonsense variant c.

Dietary patterns of Pakistani adults and their associations with sociodemographic characteristics-a community based study.

Objective: To identify the dietary patterns and understand their association with sociodemographic characteristics among adults.

Methods: The community-based cross-sectional study was conducted in Islamabad, Lahore, Karachi, Peshawar and Quetta cities of Pakistan from March to November 2018, after approval from the National Bioethics Committee, Islamabad, and comprised adults of either gender. Data was collected using the food frequency questionnaire, and dietary patterns were identified using factor analysis.

Spectrum of Common Pediatric Neurological Disorders: A Cross-Sectional Study From Three Tertiary Care Centres Across Pakistan.

Background: There is dearth of information on the spectrum of neurological disorders among children less than 18 years of age. The aim of this study is to identify the commonly presenting neurological disorders among children aged ≤ 18 years in Pakistan.

Methods: We conducted a cross-sectional study at three tertiary care hospitals in Pakistan.

In silico identification of potential drug-like molecules against G glycoprotein of Nipah virus by molecular docking, DFT studies, and molecular dynamic simulation.

Nipah virus (NiV) is a novel zoonotic pathogen that belongs to the family. The pathogen has infected a number of people in countries like Bangladesh, India, Singapore, and Malaysia with high mortality rates. Although the NiV has been classified as a biosafety level four pathogen (BSL-4), there is no drug approved for treatment against it.

Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual Disability.

Intellectual disability (ID) has become very common and is an extremely heterogeneous disorder, where the patients face many challenges with deficits in intellectual functioning and adaptive behaviors. A single affected family revealed severe disease phenotypes such as ID, developmental delay, dysmorphic facial features, postaxial polydactyly type B, and speech impairment. DNA of a single affected individual was directly subjected to whole exome sequencing (WES), followed by Sanger sequencing.

A Retrospective Cohort Study on Human Cystic Echinococcosis in Khyber Pakhtunkhwa Province (Pakistan) Based on 16 Years of Hospital Discharge Records.

Human cystic echinococcosis (CE) is a worldwide-distributed parasitic zoonotic disease, which represents a threat for both human and animals. The current study aimed at estimating the prevalence of human CE in Khyber Pakhtunkhwa (KPK) province of Pakistan. Clinical records from four major hospitals in this region were reviewed for CE human cases during the period of 2006-2021.

Comprehensive genetic screening reveals wide spectrum of genetic variants in monogenic forms of diabetes among Pakistani population.

Background: Monogenic forms of diabetes (MFD) are single gene disorders. Their diagnosis is challenging, and symptoms overlap with type 1 and type 2 diabetes.

Aim: To identify the genetic variants responsible for MFD in the Pakistani population and their frequencies.

Causal variants in Maturity Onset Diabetes of the Young (MODY) - A systematic review.

Background: Maturity Onset Diabetes of the Young (MODY) is an autosomal dominant type of diabetes. Pathogenic variants in fourteen genes are reported as causes of MODY. Its symptoms overlap with type 1 and type 2 diabetes.

Health research funding and its output in Pakistan.

Background: Health research is very important for formulating evidence-based policies.

Aims: To assess the health research funding and its output in the last 5 fiscal years (2013/14 to 2018) in Pakistan.

Methods: Information about health research funding was retrieved from 3 major local agencies, the Higher Education Commission, the Pakistan Science Foundation and the Pakistan Health Research Council.

Karachi Cancer Registry (KCR): Age-Standardized Incidence Rate by Age-Group and Gender in a Mega City of Pakistan.

Objectives: To estimate the cancer incidence by age group and gender for the population of Karachi Division by analyzing the Karachi Cancer Registry data of 2017-19.

Settings: The population of Karachi division is 16.1 million according to national census 2017.

Dataset of knowledge, attitude, practices and psychological implications of healthcare workers in Pakistan during COVID-19 pandemic.

The COVID-19 pandemic has created a global health emergency and has a huge impact on the health care workers, especially on their mental health. The dataset presented was an assessment of COVID-19 related knowledge, attitude, practices and its effects on the mental health of frontline healthcare workers in Pakistan. The data were collected using a snowball sampling technique.

Effect of COVID-19 lockdown on patients with chronic diseases.

Background And Aims: We sought to measure the effect of lockdown, implemented to contain COVID-19 infection, on routine living and health of patients with chronic diseases and challenges faced by them.

Methods: A semi-structured online questionnaire was generated using "Google forms" and sent to the patients with chronic diseases using WhatsApp. Data were retrieved and analyzed using SPSS.

Community-Based Assessment of Knowledge, Attitude, Practices and Risk Factors Regarding COVID-19 Among Pakistanis Residents During a Recent Outbreak: A Cross-Sectional Survey.

Exceptional precautionary measures have been adopted to stop the transmission and control of COVID-19 through the world and Pakistan is facing lockdown in this scenario. Public loyalty to precautionary measures is affected by their knowledge, attitude, risk factors and practices (KAP) towards COVID-19. The present study was conducted among the Pakistani residents to observe the knowledge, attitude, practices and risk factors towards COVID-19 outbreak in Pakistan.

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.

Germline pathogenic variants in chromatin-modifying enzymes are a common cause of pediatric developmental disorders. These enzymes catalyze reactions that regulate epigenetic inheritance via histone post-translational modifications and DNA methylation. Cytosine methylation (5-methylcytosine [5mC]) of DNA is the quintessential epigenetic mark, yet no human Mendelian disorder of DNA demethylation has yet been delineated.

Seroprevalence of Transplacentally acquired Measles antibodies in unvaccinated infants at nine months of age and its relation to the feeding practices.

Background: In recent years Pakistan has faced frequent measles outbreaks killing hundreds of children despite the availability of vaccine for decades. This study was undertaken to determine the persistence of maternal transferred measles antibody levels in infants before measles vaccination with relation to their feeding practices.

Methods: A cross sectional study was conducted at district Islamabad over 1 year between 1st October 2013 to 30th Sept.

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.

Identification of Mendelian genes for neurodevelopmental disorders using exome sequencing to study autosomal recessive (AR) consanguineous pedigrees has been highly successful. To identify causal variants for syndromic and non-syndromic intellectual disability (ID), exome sequencing was performed using DNA samples from 22 consanguineous Pakistani families with ARID, of which 21 have additional phenotypes including microcephaly. To aid in variant identification, homozygosity mapping and linkage analysis were performed.

Comparison of vitamin D levels with bone density, calcium, phosphate and alkaline phosphatase - an insight from major cities of Pakistan.

Objective: To compare vitamin D levels with bone mineral density, serum calcium, phosphorous and alkaline phosphatase.

Methods: The cross-sectional multicentre study was conducted at Pakistan Health Research Council centres in Islamabad, Lahore, and Karachi,and comprised subjects coming for either vitamin D testing or bone mineral density examination. Information related to demography, height/weight, skin colour, smoking, use of sun screen, daily milk intake, sun exposure and exercise was taken along with biochemical tests like serum calcium and phosphorous, alkaline phosphatase, and 25 hydroxy vitamin D.

Determinants of Smoked Tobacco Consumption among Pakistani Adults: An Analysis from GATS Pakistan 2014.

Objective: An in-depth analysis of GATS 2014 is performed to study the various demographic determinants of smoked tobacco consumption among Pakistani adults.

Methods: The Global Adult Tobacco Survey (GATS) is a standardized surveillance mechanism regarding monitoring of tobacco consumption globally, that uses three stage cluster random sampling technique to have a representative data. We performed the complex data set analysis using SPSS V 15.