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https://www.readbyqxmd.com/read/28934672/whole-exome-sequencing-identified-a-novel-missense-mutation-in-epm2a-underlying-lafora-disease-in-a-pakistani-family
#1
Zain Aslam, Eungi Lee, Mazhar Badshah, Muhammad Naeem, Changsoo Kang
No abstract text is available yet for this article.
September 1, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28933416/developing-a-research-instrument-to-document-awareness-knowledge-and-attitudes-regarding-breast-cancer-and-early-detection-techniques-for-pakistani-women-the-breast-cancer-inventory-bci
#2
Atta Abbas Naqvi, Fatima Zehra, Rizwan Ahmad, Niyaz Ahmad
There is a general hesitation in participation among Pakistani women when it comes to giving their responses in surveys related to breast cancer which may be due to the associated stigma and conservatism in society. We felt that no research instrument was able to extract information from the respondents to the extent it was needed for the successful execution of our study. The need to develop a research instrument tailored for Pakistani women was based upon the fact that most Pakistani women come from a conservative background and sometimes view this topic as provocative and believe discussing publicly about it as inappropriate...
December 9, 2016: Diseases (Basel)
https://www.readbyqxmd.com/read/28929048/brand-versus-generic-dispensing-trend-for-ciprofloxacin-500-mg-levofloxacin-500-mg-and-moxifloxacin-400-mg-oral-dosage-forms-among-pharmacies-of-karachi-pakistan
#3
Fatima Zehra, Atta Abbas Naqvi, Sumbul Tasneem, Rizwan Ahmad, Niyaz Ahmad, Adnan Zia Shamsi, Naqiya Ali Asghar, Ghufran Ullah Khan
INTRODUCTION: Pakistan spends 0.7% of its gross domestic product on health. The public sector health-care system provides services to 22% of population thus paving the way for a dominant private sector. Patients in Pakistan mostly pay their medical expenses directly, and 64% of the health expenditures are borne by the household. Expenditure on medicine constitutes 43% of the total household expenditure. METHODS: A quantitative cross-sectional study was conducted in Karachi, Pakistan, for a month...
April 2017: International Journal of Pharmaceutical Investigation
https://www.readbyqxmd.com/read/28929029/association-of-rs1801157-single-nucleotide-polymorphism-of-cxcl12-gene-in-breast-cancer-in-pakistan-and-in-silico-expression-analysis-of-cxcl12-cxcr4-associated-biological-regulatory-network
#4
Samra Khalid, Rumeza Hanif
BACKGROUND: C-X-C chemokine ligand 12 (CXCL12) has important implications in breast cancer (BC) pathogenesis. It is selectively expressed on B and T lymphocytes and is involved in hematopoiesis, thymocyte trafficking, stem cell motility, neovascularization, and tumorigenesis. The single nucleotide polymorphism (SNP) rs1801157 of CXCL12 gene has been found to be associated with higher risk of BC. METHODS: Our study focuses on the genotypic and allelic distribution of SNP (rs1801157; G/A) in Pakistani population as well as its association with the clinico-pathological features...
2017: PeerJ
https://www.readbyqxmd.com/read/28924479/marked-hyperandrogenicity-in-a-60-year-old-woman
#5
Khaled Aljenaee, Sulaiman Ali, Seong Keat Cheah, Owen MacEneaney, Niall Mulligan, Neil Hickey, Tommy Kyaw Tun, Seamus Sreenan, John H McDermott
Markedly elevated androgen levels can lead to clinical virilization in females. Clinical features of virilization in a female patient, in association with biochemical hyperandrogenism, should prompt a search for an androgen-producing tumor, especially of ovarian or adrenal origin. We herein report the case of a 60-year-old woman of Pakistani origin who presented with the incidental finding of male pattern baldness and hirsutism. Her serum testosterone level was markedly elevated at 21 nmol/L (normal range: 0...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28924287/study-designs-use-of-statistical-tests-and-statistical-analysis-software-choice-in-2015-results-from-two-pakistani-monthly-medline-indexed-journals
#6
Masood Ali Shaikh
Assessment of research articles in terms of study designs used, statistical tests applied and the use of statistical analysis programmes help determine research activity profile and trends in the country. In this descriptive study, all original articles published by Journal of Pakistan Medical Association (JPMA) and Journal of the College of Physicians and Surgeons Pakistan (JCPSP), in the year 2015 were reviewed in terms of study designs used, application of statistical tests, and the use of statistical analysis programmes...
September 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28924271/dental-graduates-perspective-of-professionalism-competences-from-a-developing-country
#7
Shehla Choudhry, Raheela Yasmeen, Syed Akhter Hossain Bokhari, Gohar Wajid, Ayyaz Ali Khan
OBJECTIVE: To evaluate the perception of fresh dental graduates regarding professional competences essential for a graduating dentist. METHODS: This quantitative, descriptive, cross-sectional study was conducted at four public and four private sector dental colleges in Punjab, Pakistan, from June to December 2014, and comprised dental graduates of the years 2013 and 2014. A comprehensive document containing 32 professionalism competences, divided into 3 sub-domains, was developed based on the competence documents of local and foreign accrediting bodies...
September 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28924268/predictors-of-pulmonary-function-test-values-for-pakistani-children-aged-5-14-years
#8
Muhammad Asif, Ghulam Mustafa, Muhammad Aslam, Saima Altaf
OBJECTIVE: To predict pulmonary function test values in children. METHODS: This cross-sectional study was carried out at Nishtar Medical College, Multan, Pakistan, from August 2014 to March 2015, and comprised school-going children aged 5-14 years. After noting their gender, age, height and weight, the pulmonary function test measures, force vital capacity, forced expiratory volume in 1 second and peak expiratory flow rate were taken. Simple and multiple regression models were used for the prediction of pulmonary function test values...
September 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28921755/homozygous-mutation-in-the-nphp3-gene-causing-foetal-nephronophthisis
#9
Uzma Abdullah, Muhammad Farooq, Ambrin Fatima, Wasima Tauseef, Yasra Sarwar, Mmh Nuri, Niels Tommerup, Shahid M Baig
We present a case of a foetal sonographic finding of hyper-echogenic kidneys, which led to a strategic series of genetic tests and identified a homozygous mutation (c.424C > T, p. R142*) in the NPHP3 gene. Our study provides a rare presentation of NPHP3-related ciliopathy and adds to the mutation spectrum of the gene, being the first one from Pakistani population. With a thorough literature review, it also advocates for molecular assessment of ciliopathies to improve risk estimate for future pregnancies, and identify predisposed asymptomatic carriers...
October 2017: Nephrology
https://www.readbyqxmd.com/read/28912669/identification-of-novel-mutations-in-congenital-afibrinogenemia-patients-and-molecular-modeling-of-missense-mutations-in-pakistani-population
#10
Arshi Naz, Arijit Biswas, Tehmina Nafees Khan, Anne Goodeve, Nisar Ahmed, Nazish Saqlain, Shariq Ahmed, Ikram Din Ujjan, Tahir S Shamsi, Johannes Oldenburg
BACKGROUND: Congenital afibrinogenemia (OMIM #202400) is a rare coagulation disorder that was first described in 1920. It is transmitted as an autosomal recessive trait that is characterized by absent levels of fibrinogen (factor I) in plasma. Consanguinity in Pakistan and its neighboring countries has resulted in a higher number of cases of congenital fibrinogen deficiency in their respective populations. This study focused on the detection of mutations in fibrinogen genes using DNA sequencing and molecular modeling of missense mutations in all three genes [Fibrinogen gene alpha (FGA), beta (FGB) and gamma (FGG)] in Pakistani patients...
2017: Thrombosis Journal
https://www.readbyqxmd.com/read/28891751/rotavirus-vaccine-response-correlates-with-the-infant-gut-microbiota-composition-in-pakistan
#11
Vanessa Harris, Asad Ali, Susana Fuentes, Katri Korpela, Momin Kazi, Jacqueline Tate, Umesh Parashar, W Joost Wiersinga, Carlo Giaquinto, Carolina de Weerth, Willem M de Vos
Background Rotavirus (RV) is the leading cause of diarrhea-related death in children worldwide, and ninety-five percent of rotavirus deaths occur in Africa and Asia. Rotavirus vaccines (RVV) can dramatically reduce RV deaths, but have low efficacy in low-income settings where they are most needed. The intestinal microbiome may contribute to this decreased RVV efficacy. This pilot study hypothesizes that infants' intestinal microbiota composition correlates with RVV immune responses and that RVV responders have different gut microbiota as compared to non-responders...
September 11, 2017: Gut Microbes
https://www.readbyqxmd.com/read/28879718/interleukin-6-receptor-il6-r-gene-polymorphisms-underlie-susceptibility-to-rheumatoid-arthritis
#12
Shoaib Ahmed, Shabbir Hussain, Ali Ammar, Shah Jahan, Shagufta Khaliq, Haiba Kaul
BACKGROUND: Increased production of interleukin 6 (IL-6) is associated with rheumatoid arthritis that acts through its receptor, IL-6R (interleukin 6 receptor). Various single nucleotide polymorphisms in the IL6R gene conferring susceptibility to rheumatoid arthritis have been identified in various populations yet these associations have not been fully established. The present study was pursued with the aim to evaluate a possible association between three single nucleotide polymorphisms (rs2228145, rs4537545, rs4845617) of the IL6R gene and rheumatoid arthritis in Pakistani patients...
September 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28859608/refining-the-south-asian-origin-of-the-romani-people
#13
Bela I Melegh, Zsolt Banfai, Kinga Hadzsiev, Attila Miseta, Bela Melegh
BACKGROUND:  Recent genetic studies based on genome-wide Single Nucleotide Polymorphism (SNP) data further investigated the history of Roma and suggested that the source of South Asian ancestry in Roma originates most likely from the Northwest region of India. METHODS: In this study, based also on genome-wide SNP data, we attempted to refine these findings using significantly larger number of European Roma samples, an extended dataset of Indian groups and involving Pakistani groups into the analyses...
August 31, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28854570/involving-mosques-in-health-promotion-programmes-a-qualitative-exploration-of-the-mclass-intervention-on-smoking-in-the-home
#14
R King, S Warsi, A Amos, S Shah, G Mir, A Sheikh, K Siddiqi
Second-hand smoke (SHS) exposure is high among UK Bangladeshi and Pakistani populations, reflecting higher male smoking prevalence and fewer home smoking restrictions than the general population. The Muslim Communities Learning About Second-hand Smoke (MCLASS) study explored the feasibility and acceptability of implementing SHS education in 14 UK mosques. Religious teachers (RTs) in seven intervention mosques were trained and provided with a culturally appropriate educational package. After the intervention, mosque leaders, RTs and congregants' experiences and perceptions of the intervention were explored through interviews and focus group discussions...
August 1, 2017: Health Education Research
https://www.readbyqxmd.com/read/28841853/childhood-cancer-incidence-by-ethnic-group-in-england-2001-2007-a-descriptive-epidemiological-study
#15
Shameq Sayeed, Isobel Barnes, Raghib Ali
BACKGROUND: After the first year of life, cancers are the commonest cause of death in children. Incidence rates vary between ethnic groups, and recent advances in data linkage allow for a more accurate estimation of these variations. Identifying such differences may help identify potential risk or protective factors for certain childhood cancers. This study thus aims to ascertain whether such differences do indeed exist using nationwide data across seven years, as have previously been described in adult cancers...
August 25, 2017: BMC Cancer
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
#16
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
#17
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/28828766/perspective-on-health-seeking-behavior-of-patients-with-oropharyngeal-cancers-from-a-pakistani-background
#18
Maria Shoaib, Syed Ahsanuddin Ahmed, Syed Muhammad Waqar, Zainab Abbasi, Farah Hafiz Yusuf
Oropharyngeal cancers are the most common cancers of head neck region, they are placed amongst the top ten malignancies globally and around 40% of all the cancers in South and South East Asia. Patient's personal behaviour impacts causality more than the environmental factors in the pathology and prognosis of this particular cancer. In our country risk factors are based on poor infrastructure of the health care system, illiteracy, poor socioeconomic status, Betel nut and quid, smokeless and smoke tobacco. We recommend that an active precautionary approach is required to restrict the rising incidence in the oral cancers, particularly due to culturally related risk habits and reluctance to seek early healthcare amongst our people...
October 2016: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28827725/estimating-the-human-mutation-rate-from-autozygous-segments-reveals-population-differences-in-human-mutational-processes
#19
Vagheesh M Narasimhan, Raheleh Rahbari, Aylwyn Scally, Arthur Wuster, Dan Mason, Yali Xue, John Wright, Richard C Trembath, Eamonn R Maher, David A van Heel, Adam Auton, Matthew E Hurles, Chris Tyler-Smith, Richard Durbin
Heterozygous mutations within homozygous sequences descended from a recent common ancestor offer a way to ascertain de novo mutations across multiple generations. Using exome sequences from 3222 British-Pakistani individuals with high parental relatedness, we estimate a mutation rate of 1.45 ± 0.05 × 10(-8) per base pair per generation in autosomal coding sequence, with a corresponding non-crossover gene conversion rate of 8.75 ± 0.05 × 10(-6) per base pair per generation. This is at the lower end of exome mutation rates previously estimated in parent-offspring trios, suggesting that post-zygotic mutations contribute little to the human germ-line mutation rate...
August 21, 2017: Nature Communications
https://www.readbyqxmd.com/read/28818163/evaluation-of-ckd-epi-pakistan-equation-for-estimated-glomerular-filtration-rate-egfr-acomparison-of-egfr-prediction-equations-in-pakistani-population
#20
Sibtain Ahmed, Lena Jafri, Aysha Habib Khan
OBJECTIVE: To evaluate the results of 24-hour urinary creatinine clearance (CrCl) with estimated glomerular filtration rate (eGFR) using the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI), CKD-EPI Pakistan (CKD-EPI Pak), Cockcroft Gault (CG) and 4-variable Modification of Diet in Renal Disease (MDRD) equations. STUDY DESIGN: Descriptive, cross-sectional study. PLACE AND DURATION OF STUDY: Section of Clinical Chemistry, Department of Pathology and Laboratory Medicine, The Aga Khan University, Karachi, from June to October 2013...
July 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
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