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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
#1
Gheyath K Nasrallah, Soha R Dargham, Layla I Mohammed, Laith J Abu-Raddad
BACKGROUND: 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. METHODS: 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, USA)...
August 17, 2017: Journal of Medical Virology
https://www.readbyqxmd.com/read/28799099/metachromatic-leukodystrophy-mld-a-pakistani-family-with-novel-arsa-gene-mutation
#2
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...
August 10, 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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/28674240/molecular-genetic-analysis-of-consanguineous-families-with-primary-microcephaly-identified-pathogenic-variants-in-the-aspm-gene
#10
Muzammil Ahmad Khan, Christian Windpassinger, Muhammad Zeeshan Ali, Muhammad Zubair, Hadia Gul, Safdar Abbas, Saadullah Khan, Muhammad Badar, Ramzi M Mohammad, Zafar Nawaz
Autosomal recessive primary microcephaly is a rare genetic disorder that is characterized by reduced head circumference and a varying degree of intellectual disability. Genetic studies on consanguineous families with primary microcephaly have identified 15 (MCPH) causative genes that include MCPH1, WDR62, CDK5RAP2, CASC5, ASPM, CENPJ, STIL, CEP135, CEP152, ZNF335, PHC1, CDK6, CENPE, SASS6 MFSD2A ANKLE2 and CIT (Khan et al. 2014; Yamamoto et al. 2014; Alakbarzade et al. 2015;Morris-Rosendahl and Kaindl 2015; Basit et al...
June 2017: Journal of Genetics
https://www.readbyqxmd.com/read/28670940/rare-%C3%AE-globin-gene-mutations-in-pakistan
#11
Ahsan Hussain, Suhaib Ahmed, Nadir Ali, Hamid S Mailk, Mariam Anees, Altaf H Chuahdry, Parvez Ahmed
The aim of this study was to analyze the rare β-thalassemia (β-thal) mutations in the Pakistani population. A total of 8716 unrelated Pakistani individuals having children with transfusion-dependent thalassemia were investigated by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) for the previously reported common and rare β-thal mutations. Genomic sequencing of the β-globin gene and its immediate 5' and 3' flanking regions was done where no known mutation was found. Out of the 8716 individuals studied, 88 (1...
March 2017: Hemoglobin
https://www.readbyqxmd.com/read/28665996/long-term-patterns-of-adherence-to-medication-therapy-among-patients-with-type-2-diabetes-mellitus-in-denmark-the-importance-of-initiation
#12
Majken Linnemann Jensen, Marit Eika Jørgensen, Ebba Holme Hansen, Lise Aagaard, Bendix Carstensen
AIMS: Poor adherence to medication therapy among type 2 diabetes patients is a clinical challenge. We aimed to determine which factors are associated with the three phases of long-term adherence to medication: initiation, implementation and discontinuation in a register-based study. METHODS: Adherence to six medicine groups (metformin, sulfonylureas, acetylsalicylic acid, thiazide diuretics, renin angiotensin system inhibitors, and statins) were analysed among 5,232 patients with type 2 diabetes at a tertiary referral hospital during 1998-2009...
2017: PloS One
https://www.readbyqxmd.com/read/28665926/exome-sequencing-revealed-a-novel-homozygous-splice-site-variant-in-wnt1-gene-underlying-osteogenesis-imperfecta-type-3
#13
Muhammad Umair, Bader Alhaddad, Afzal Rafique, Abid Jan, Tobias B Haack, Elisabeth Graf, Asmat Ullah, Farooq Ahmad, Tim M Strom, Thomas Meitinger, Wasim Ahmad
BACKGROUND: Osteogenesis Imperfecta (OI) is a heritable bone fragility disorder usually caused by dominant variants in COL1A1 or COL1A2 genes. Over the last few years, seventeen genes including twelve autosomal recessive and five autosomal dominant forms of OI, involved in various aspects of bone formation, have been identified. METHODS: Whole exome sequencing followed by conventional Sanger sequencing was performed in single affected individual IV-3 in the present family...
June 30, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28611678/a-fourth-klk4-mutation-is-associated-with-enamel-hypomineralisation-and-structural-abnormalities
#14
Claire E L Smith, Jennifer Kirkham, Peter F Day, Francesca Soldani, Esther J McDerra, James A Poulter, Christopher F Inglehearn, Alan J Mighell, Steven J Brookes
"Amelogenesis imperfecta" (AI) describes a group of genetic conditions that result in defects in tooth enamel formation. Mutations in many genes are known to cause AI, including the gene encoding the serine protease, kallikrein related peptidase 4 (KLK4), expressed during the maturation stage of amelogenesis. In this study we report the fourth KLK4 mutation to be identified in autosomal recessively-inherited hypomaturation type AI, c.632delT, p.(L211Rfs(*)37) (NM_004917.4, NP_004908.4). This homozygous variant was identified in five Pakistani AI families and is predicted to result in a transcript with a premature stop codon that escapes nonsense mediated decay...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28606177/recent-household-transmission-of-tuberculosis-in-england-2010-2012-retrospective-national-cohort-study-combining-epidemiological-and-molecular-strain-typing-data
#15
Maeve K Lalor, Laura F Anderson, Esther L Hamblion, Andy Burkitt, Jennifer A Davidson, Helen Maguire, Ibrahim Abubakar, H Lucy Thomas
BACKGROUND: We estimate the proportion of tuberculosis (TB) in England due to recent household transmission, identify factors associated with being a household transmitter, and investigate the impact that identification of a case has on time to treatment of subsequent cases. METHODS: TB cases notified between 2010 and 2012 in England in the same household as another case were identified; 24 locus MIRU-VNTR strain typing (ST) was used to identify household cases with likely recent transmission...
June 13, 2017: BMC Medicine
https://www.readbyqxmd.com/read/28594232/revisiting-the-aids-epidemic-in-pakistan-where-we-stand-and-what-we-must-aim-for
#16
Hamza Arshad Dar, Areeba Mubashir, Manal Adil, Aiman Farzeen, Hasaan Naseer, Gohar Ayub, Sajid Mansoor, Aneela Javed
Human immunodeficiency virus type 1 (HIV-1) is the major cause of acquired immunodeficiency syndrome (AIDS) in humans, where the immune system totally succumbs to the virus. A large proportion of the AIDS infected belong to developing countries and AIDS prevalence is intensified by severe poverty, malnutrition, and famine; fatal illnesses with a scorn shortage of medical amenities complemented with the lack of education and development. Current Pakistani health system setting is in a dire need of improvement...
July 11, 2017: AIDS Research and Human Retroviruses
https://www.readbyqxmd.com/read/28583113/patterns-control-and-complications-of-diabetes-from-a-hospital-based-registry-established-in-a-low-income-country
#17
Jaweed Akhter, Asma Ahmed, Minaz Mawani, Laila Lakhani, Ayaz Kalsekar, Shehla Tabassum, Najmul Islam
BACKGROUND: Diabetes registry enables practitioners to measure the characteristics and patterns of diabetes across their patient population. They also provide insight into practice patterns which can be very effective in improving care and preventing complications. The aim of this study was to assess the patterns, control levels and complications at the baseline of the patients attending clinic at the large tertiary care hospital in Karachi, Pakistan with the help of the registry. This can be used as a reference to monitor the control and also for a comparison between peer groups...
June 5, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28582431/hepatitis-b-genotypes-and-surface-antigen-mutants-present-in-pakistani-blood-donors
#18
Barbara J Harris, Vera Holzmayer, Huma Qureshi, Mohammad Ayyub Khan, Saleem Ahmed Khan, Nuzhat Salamat, Sarfaraz Jafri, Catherine A Brennan
BACKGROUND: The prevalence of chronic Hepatitis B Virus (HBV) infection is 2-4% in the Pakistani population, defining Pakistan as an intermediate prevalence country. In this study, hepatitis B surface antigen (HBsAg) reactive blood donations were screened using a combination of serological and molecular methods to identify immune escape HBV mutant strains and to determine the HBV genotypes and subtypes present in Pakistan. METHODS: Blood donations were collected at the Armed Forces Institute of Transfusion (AFIT) located in northern Pakistan and the Hussaini Blood Bank (HBB) located in the south...
2017: PloS One
https://www.readbyqxmd.com/read/28559208/novel-splice-mutation-in-lrp4-causes-severe-type-of-cenani-lenz-syndactyly-syndrome-with-oro-facial-and-skeletal-symptoms
#19
Muhammad Afzal, Qamar Zaman, Uwe Kornak, Stefan Mundlos, Sajid Malik, Ricarda Flöttmann
Cenani-Lenz syndactyly syndrome (CLSS; MIM-212780) is a rare autosomal recessive limb malformation characterized by complete osseous fusion of all fingers and toes, disorganization of phalangeal elements and severe shortening of the radius and ulna. It is occasionally associated with renal hypoplasia, oro-facial defects, scoliosis of the thoracic spine, hearing loss, and genital anomalies. Here we describe a consanguineous Pakistani kindred with a severe form of CLSS characterized by complete syndactyly and disorganization of fingers, oligo-syndactyly of toes, shortening of limbs, frontal bossing, and hypoplasia/agenesis of left kidney...
August 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28527973/molecular-analysis-of-group-a-rotaviruses-detected-in-hospitalized-children-from-rawalpindi-pakistan-during-2014
#20
Massab Umair, Bilal Haider Abbasi, Nadia Nisar, Muhammad Masroor Alam, Salmaan Sharif, Shahzad Shaukat, Muhammad Suleman Rana, Adnan Khurshid, Ghulam Mujtaba, Uzma Bashir Aamir, Syed Sohail Zahoor Zaidi
As a part of strategy to control diarrheal diseases, World Health Organization (WHO) recommends to include rotavirus vaccines in national immunization programs. Sentinel surveillance networks have been established to monitor rotavirus disease burden and genotype distribution in both pre and post vaccine era in many countries. Unfortunately, due to lack of proper surveillance programs, data on rotavirus disease burden and genotype distribution from Pakistan is scarce. We investigated 502 stool samples from children (<5years) hospitalized due to gastroenteritis in Rawalpindi, Pakistan during 2014 for the presence of group A rotavirus (RVA) and its genotypic diversity...
May 17, 2017: Infection, Genetics and Evolution
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