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https://www.readbyqxmd.com/read/29209666/novel-duplication-mutation-of-the-dysf-gene-in-a-pakistani-family-with-miyoshi-myopathy
#1
Muhammad I Ullah, Arsalan Ahmad, Milena Zarkovic, Syed S Shah, Abdul Nasir, Saqib Mahmood, Wasim Ahmad, Christian A Hubner, Muhammad J Hassan
To identify the underlying gene mutation in a large consanguineous Pakistani family.  Methods: This is an observational descriptive study carried out at the Department of Biochemistry, Shifa International Hospital, Quaid-i-Azam University, and Atta-ur-Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad, Pakistan from 2013-2016. Genomic DNA of all recruited family members was extracted and the Trusight one sequencing panel was used to assess genes associated with a neuro-muscular phenotype...
December 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/29171555/association-of-vitamin-d-binding-protein-polymorphism-with-risk-of-type-2-diabetes-mellitus-in-a-pakistani-urban-population-a-case-control-study
#2
Khalida Iqbal, Najmul Islam, Iqbal Azam, Ali Asghar, Naseema Mehboobali, Mohammad Perwaiz Iqbal
OBJECTIVE: To assess if genotypes/diplotypes of vitamin D binding protein have any association with type 2 diabetes mellitus. METHODS: This case-control study was conducted from January 2013 to July 2015 at the endocrinology clinics of the Aga Khan University Hospital, Karachi, and comprised adult patients with type 2 diabetes and their age- and gender-matched healthy controls. Venous blood was obtained and assessed for serum/plasma 25 hydroxyvitamin D, parathyroid hormone, calcium, alkaline phosphatase and creatinine...
November 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/29166662/detection-of-hbsag-mutants-in-the-blood-donor-population-of-pakistan
#3
Ahmad Farooq, Usman Waheed, Hasan Abbas Zaheer, Fahad Aldakheel, Shatha Alduraywish, Muhammad Arshad
BACKGROUND: Infection with the Hepatitis B virus (HBV) continues to be one of the leading healthcare issues in Pakistan, affecting over 6 million people. The existence of HBsAg mutants is well documented in many countries. In Pakistan, HBV screening in the majority of the blood banks is performed by Rapid Detection Devices or ELISA tests. These tests are designed to detect HBsAg, but may not detect the mutant HBsAg. Failure to detect the HBsAg mutant may result in the transmission of HBV infection from donor to recipient...
2017: PloS One
https://www.readbyqxmd.com/read/29056124/association-of-adipoq-c-11377g-rs266729-tnf-%C3%AE-%C3%AE-g-308a-rs1800629-and-tnf-%C3%AE-%C3%AE-g-238a-rs361525-single-nucleotide-polymorphisms-with-type-2-diabetes-mellitus-in-pakistani-population
#4
Amina Nadeem, Sadaf Mumtaz, Abdul Khaliq Naveed, Qaisar Mansoor, Muhammad Aslam, Muhammad Ismail
OBJECTIVE: To determine the frequencies of adiponectin (ADIPOQ) C-11377G, tumor necrosis factor-alpha (TNF-α) G-308A and TNF-αG-238Asingle nucleotide polymorphisms (SNP) and their association with serum levels in Pakistani T2DM and healthy population. STUDY DESIGN: Case control study. PLACE AND DURATION OF STUDY: Military Hospital, Rawalpindi, Army Medical College and Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan, from June 2012 till 2014...
October 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29056123/immunohistochemical-expression-of-cd10-bcl6-and-mum1-in-differentiating-diffuse-large-b-cell-lymphoma-subtypes
#5
Akhter Ali Bajwa, Muhammad Tahir Khadim, Hafeez Ud Din, Syed Salman Ali, Unaiza Jamil, Umair Aslam Shahzad Khan
OBJECTIVE: To determine the immunohistochemical expression of CD10, BCL6 and MUM1 in differentiating diffuse large B cell lymphoma subtypes. STUDY DESIGN: Descriptive, cross-sectional study. PLACE AND DURATION OF STUDY: Department of Histopathology, Armed Forces Institute of Pathology, Rawalpindi, from November 2014 to May 2015. METHODOLOGY: Newly diagnosed cases of DLBCLon H&E stain as well as IHC markers, according to WHO blue book 2008, were included in the study...
October 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29039341/the-practice-of-self-medication-among-pakistani-university-students
#6
Mamoona Mushtaq, Saleem Gul, Fauzia Naz
Self-medication refers to the selection and use of medicines without prescription by an individuals' personal responsibility as a cure of self-identified disease. Although its rationale, type and extent may different from culture to culture, it is globally prevalent practice. In Pakistan no research is available on the use of self-medication among university students. The existing study was conducted to investigate the frequency and percentages of branded medicines used by university students, reasons and rationale behind self-medication...
July 2017: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/29016290/variability-of-cutaneous-leishmaniasis-lesions-is-not-associated-with-genetic-diversity-of-leishmania-tropica-in-khyber-pakhtunkhwa-province-of-pakistan
#7
Nazma Habib Khan, Martin S Llewellyn, Gabriele Schönian, Colin J Sutherland
Leishmania tropica is the causative agent of cutaneous leishmaniasis in Pakistan. Here, intraspecific diversity of L. tropica from northern Pakistan was investigated using multilocus microsatellite typing. Fourteen polymorphic microsatellite markers were typed in 34 recently collected L. tropica isolates from Pakistan along with 158 archival strains of diverse Afro-Eurasian origins. Previously published profiles for 145 strains of L. tropica originating from different regions of Africa, Central Asia, Iran, and Middle East were included for comparison...
September 25, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28982646/the-association-between-commonly-investigated-user-factors-and-various-types-of-ehealth-use-for-self-care-of-type-2-diabetes-case-of-first-generation-immigrants-from-pakistan-in-the-oslo-area-norway
#8
Naoe Tatara, Hugo Lewi Hammer, Hege Kristin Andreassen, Jelena Mirkovic, Marte Karoline Råberg Kjøllesdal
BACKGROUND: Sociodemographic and health-related factors are often investigated for their association with the active use of electronic health (eHealth). The importance of such factors has been found to vary, depending on the purpose or means of eHealth and the target user groups. Pakistanis are one of the biggest immigrant groups in the Oslo area, Norway. Due to an especially high risk of developing type 2 diabetes (T2D) among this population, knowledge about their use of eHealth for T2D self-management and prevention (self-care) will be valuable for both understanding this vulnerable group and for developing effective eHealth services...
October 5, 2017: JMIR Public Health and Surveillance
https://www.readbyqxmd.com/read/28973684/a-mutation-in-ift43-causes-non-syndromic-recessive-retinal-degeneration
#9
Pooja Biswas, Jacque L Duncan, Muhammad Ali, Hiroko Matsui, Muhammad Asif Naeem, P B Raghavendra, Kelly A Frazer, Heleen H Arts, S Riazuddin, Javed Akram, J Fielding Hejtmancik, S Amer Riazuddin, Radha Ayyagari
PURPOSE: Identification of the molecular cause of autosomal recessive early onset retinal degeneration in a consanguineous pedigree. METHODS: Seventeen members of a four-generation Pakistani family were recruited and underwent a detailed ophthalmic examination. Exomes of four affected and two unaffected individuals were sequenced. Variants were filtered using exomeSuite to identify rare potentially pathogenic variants in genes expressed in the retina and/or brain and consistent with the pattern of inheritance...
September 18, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28839318/spatial-distribution-of-health-consultations-in-the-past-two-weeks-by-provider-type-and-district-pakistan-social-and-living-standards-measurement-survey-2014-15
#10
Masood Ali Shaikh
Place is a nexus between epidemiology and Geographic Information System. In this study, the Pakistan Social and Living Standards Measurement survey 2014-15 data on percent distribution of health consultations, in the past 2-weeks by type of healthcare provider were mapped cumulatively, as well as disaggregated by urban and rural areas, using a GIS programme to visualize spatial distribution in the country by district. Private sector is the main and preferred provider for healthcare services when Pakistanis get sick or injured...
August 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28830906/autosomal-recessive-chondrodysplasia-with-severe-short-stature-caused-by-a-biallelic-col10a1-variant
#11
Noor Ul Ain, Outi Makitie, Sadaf Naz
BACKGROUND: Heterozygous mutations in COL10A1 underlie metaphyseal chondrodysplasia, Schmid type (MCDS), an autosomal dominant skeletal dysplasia. OBJECTIVE: To identify the causative variant in a large consanguineous Pakistani family with severe skeletal dysplasia and marked lower limb deformity. METHODS: Whole exome sequencing was completed followed by Sanger sequencing to verify segregation of the identified variants. In silico variant pathogenicity predictions and amino acid conservation analyses were performed...
August 22, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28817197/estimating-seroprevalence-of-herpes-simplex-virus-type-1-among-different-middle-east-and-north-african-male-populations-residing-in-qatar
#12
Gheyath K Nasrallah, Soha R Dargham, Layla I Mohammed, Laith J Abu-Raddad
HSV-1 epidemiology in the Middle East and North Africa (MENA) remains poorly understood. Our study aimed to measure HSV-1 antibody prevalence (seroprevalence) and its age-distribution among select MENA populations residing in Qatar. Sera were collected from male blood donors attending Hamad Medical Corporation 2013-2015. A total of 2,077 sera were tested for anti-HSV-1 antibodies using HerpeSelect(®) 1 ELISA IgG kits (Focus Diagnostics, Cypress, CA). Robust Poisson regression was conducted to estimate adjusted infection prevalence ratios...
August 17, 2017: Journal of Medical Virology
https://www.readbyqxmd.com/read/28799099/metachromatic-leukodystrophy-mld-a-pakistani-family-with-novel-arsa-gene-mutation
#13
Muhammad Aiman Shahzad, Saba Khaliq, Ali Amar, Saqib Mahmood
A deficiency of the enzyme arylsulfatase A (ARSA) causes a progressive neurodegenerative lysosomal storage disease known as metachromatic leukodystrophy (MLD). Diagnosis is based on the onset of neurological symptoms, presence of gait abnormalities, spasticity, decreased muscle stretch reflexes and neuro-radiological evidence of demyelination. The purpose of the present study was to identify any mutation in the candidate ARSA gene in a family of late infantile MLD patients. The diagnosis of suspected MLD patients was confirmed by a MRI report and low ARSA enzymatic activity in leukocytes...
September 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28797994/pattern-of-karyotypic-aberrations-in-pakistani-patients-with-de-novo-acute-myeloid-leukemia
#14
Syeda Alia Abbas, Sadian Sultan, Sana Ashar, Syed Muhamad Irfan Irfan
BACKGROUND: Acute myeloid leukemia (AML) is a malignant disease of the bone marrow in which karyotypic analysis is the most important diagnostic and prognostic tool for predicting remission rate, relapse and overall survival. This study was carried out to determine the frequency and type of cytogenetic aberrations in de novo acute myeloid leukemia in adults at a tertiary care hospital. MATERIALS AND METHODS: This descriptive cross-sectional study was carried out in the Hematology Department, Liaquat National Hospital from November 2014 to April 2016...
May 2017: Gulf Journal of Oncology
https://www.readbyqxmd.com/read/28739739/transcriptional-profiling-of-sonic-hedgehog-in-a-prospective-cohort-of-breast-cancer-in-a-pakistani-population
#15
Syeda Kiran Riaz, Lin Ye, Namood E Sahar, Durkhshan Aman, Javeria Qadir, Jahangir Sarwar Khan, Muhammad Saeed, Wen G Jiang, Muhammad Faraz Arshad Malik
BACKGROUND/AIM: Constitutive activation of Sonic hedgehog (SHH) has been observed in different types of cancers. In the present study, expressional profiling of SHH in a breast cancer cohort (n=150) of a Pakistani population and its association with different molecular subtypes have been explored. MATERIALS AND METHODS: qRT-PCR and IHC were performed for expression analysis of SHH and its association with ER, PR, HER2 and Ki-67 were also statistically analyzed. RESULTS: A significant over-expression of SHH was observed in tumor tissues in comparison to their respective controls (p<0...
August 2017: Anticancer Research
https://www.readbyqxmd.com/read/28733565/customary-marriages-in-rural-pakistan
#16
N Rehan, K Qayyum
BACKGROUND: Although the incidents of customary marriages are frequently reported in Pakistani press, yet no large scale community-based study has ever been conducted to gauge the magnitude of such marriages. The present study is the first-ever community based study on this topic. METHODS: 4,385 ever-married women, aged 18-83 years, from six rural districts, were interviewed to enquire about the types of their marriages. The data was collected through interviews conducted by trained female interviewers and analysed through SPSS-20...
June 2017: Medical Journal of Malaysia
https://www.readbyqxmd.com/read/28728886/effect-of-a-physical-activity-intervention-on-supar-levels-a-randomized-controlled-trial
#17
Christopher Rohde, Christoffer Polcwiartek, Eivind Andersen, Torkel Vang, Jimmi Nielsen
OBJECTIVES: Soluble urokinase-type plasminogen activator receptor (suPAR) is a novel inflammatory marker, associated with lifestyle diseases and mortality risk. No studies have investigated whether physical activity may reduce suPAR levels using a randomized controlled design. DESIGN AND METHODS: suPAR and C-reactive protein (CRP) levels were determined in blood samples from a previous randomized controlled trial with Pakistani immigrants in Norway, 2008. The study included physically inactive men that were randomized to an intervention group (supervised group exercises) or a control group and followed for 5 months...
July 4, 2017: Journal of Science and Medicine in Sport
https://www.readbyqxmd.com/read/28712187/utility-of-heart-type-fatty-acid-binding-protein-h-fabp-point-of-care-test-in-the-early-hours-of-stemi-compared-with-troponin-i-in-pakistani-population
#18
Walid Ahmad Abbasi, Muhammad Saleem, Shahid Rasheed, Azhar Mahmood Kiyani
BACKGROUND: Acute coronary syndrome remains a dominant cause of high morbidity and mortality despite advancements in treatment This study was conducted to examine the utility of point-of-care test of heart-type fatty-acid binding protein (h-FABP) and compare it with the point-of-care test of cardiac troponin I (cTnI) in the first 06 hours of STEMI. METHODS: This cross-sectional, comparative study which was conducted in Rawalpindi institute of cardiology, Rawalpindi, Pakistan, from January to June 2015...
January 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28698971/living-with-diabetes-personal-interviews-with-pakistani-women-in-norway
#19
Walaa Abuelmagd, Helle Håkonsen, Khadijah Qurrat-Ul-Ain Mahmood, Najmeh Taghizadeh, Else-Lydia Toverud
The prevalence of Type 2 diabetes (T2D) among Pakistani women in Norway is remarkably high. This study aims to assess how they live with the disease and their response to lifestyle and medical information. 120 Pakistani women living in Norway (mean age: 55.7 years) were personally interviewed about their T2D using a structured questionnaire (response rate: 95%). The participants were first-generation immigrants (mean residence time: 28.7 years) of whom 27% were illiterates. Poor health was reported by one-third, and 71% had developed macrovascular comorbidities...
July 11, 2017: Journal of Immigrant and Minority Health
https://www.readbyqxmd.com/read/28693477/clinical-consequences-of-untreated-dental-caries-assessed-using-pufa-index-and-its-covariates-in-children-residing-in-orphanages-of-pakistan
#20
Ramsha Kamran, Warda Farooq, Mehreen Riaz Faisal, Faisal Jahangir
BACKGROUND: The purpose of this study was to determine the prevalence and clinical effects of untreated dental caries in Pakistani children residing in orphanages using the DMFT and PUFA index; association of decay and untreated dental caries with demographics including type of orphanage; behavioural and dental visiting pattern; and association of dental pain experience and type of orphanage with dental visiting. METHODS: A cross-sectional survey was conducted on a total of 753 orphan children belonging to 4-17 years of age group residing in twin cities of Rawalpindi and Islamabad, Pakistan...
July 11, 2017: BMC Oral Health
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