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https://www.readbyqxmd.com/read/28527973/molecular-analysis-of-group-a-rotaviruses-detected-in-hospitalized-children-from-rawalpindi-pakistan-during-2014
#1
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 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
https://www.readbyqxmd.com/read/28523926/quantitative-evaluation-of-insulin-resistance-markers-in-pakistani-patients-suffering-from-hcv-associated-type-2-diabetes-mellitus
#2
S N Sabir, S Manzoor, F Parvaiz, M Saalim, E Ghani
The current study was designed to determine the role of the host genes involved in the development of chronic hepatitis C-associated type 2 diabetes mellitus. This study was carried out in patients in four different stages of chronic hepatitis C virus (HCV) infection, including treatment-naïve HCV patients, HCV-positive patients with type 2 diabetes mellitus (T2DM), non-responders and responders. The mRNA expression level of host genes, such as glucose-6-phosphatase (G6Pase), tumor necrosis factor α (TNF-α) and different adipokines including adiponectin, leptin and resistin, was quantified and compared to healthy controls...
2017: Acta Virologica
https://www.readbyqxmd.com/read/28492150/selective-screening-for-organic-acidurias-and-amino-acidopathies-in-pakistani-children
#3
Noreen Abbas Sherazi, Aysha Habib Khan, Lena Jafri, Azeema Jamil, Nasir Ali Khan, Bushra Afroze
OBJECTIVE: To determine the frequency of organic acidurais (OA) and amino acidopathies (AA) in selected high-risk patients screened in two years. STUDY DESIGN: Retrospective Observational study. PLACE AND DURATION OF STUDY: The Aga Khan University Hospital (AKUH), Karachi, from January 2013 to December 2014. METHODOLOGY: Patients with OA and AA were included in the study and patients with IMDs other than OA and AA were excluded...
April 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28488682/exome-sequencing-revealed-a-splice-site-variant-in-the-iqce-gene-underlying-post-axial-polydactyly-type-a-restricted-to-lower-limb
#4
Muhammad Umair, Khadim Shah, Bader Alhaddad, Tobias B Haack, Elisabeth Graf, Tim M Strom, Thomas Meitinger, Wasim Ahmad
Polydactyly is characterized by an extra supernumerary digit/toe with or without bony element. To date variants in four genes GLI3, ZNF141, MIPOL1 and PITX1 have been implicated in developing non-syndromic form of polydactyly. The present study involved characterization of large consanguineous family of Pakistani origin segregating post-axial polydactyly type A, restricted to lower limb, in autosomal recessive pattern. DNA of two affected members in the family was subjected to exome sequencing. Sanger sequencing was then followed to validate segregation of the variants in the family members...
May 10, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28480795/assessment-of-medication-adherence-among-type-2-diabetic-patients-in-quetta-city-pakistan
#5
Qaiser Iqbal, Sajid Bashir, Javeid Iqbal, Shehla Iftikhar, Brian Godman
OBJECTIVES: Type 2 diabetes (T2DM) is a growing burden among all countries including Pakistan, with medication adherence very important. However, little is known about medication adherence in Pakistan and potential predictors among T2DM patients to provide future guidance. This needs to be addressed. Consequently, the present study sought to assess medication adherence among type 2 diabetic patients in Quetta city, Pakistan. METHODS: Questionnaire based, descriptive study among 300 Pakistani patients attending public and private hospitals aged 18 years and above, having a confirmed diagnosis of T2DM, without additional co-morbidities were targeted...
May 8, 2017: Postgraduate Medicine
https://www.readbyqxmd.com/read/28471832/rising-relapse-rate-in-hepatitis-c-virus-type-3a-infected-patients-against-sofosbuvir-and-ribavirin-combination-therapy-a-pakistani-experience
#6
Braira Wahid, Komal Saleem, Amjad Ali, Shazia Rafique, Muhammad Idrees
No abstract text is available yet for this article.
May 3, 2017: European Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28429097/immunomodulatory-and-therapeutic-role-of-cinnamomum-verum-extracts-in-collagen-induced-arthritic-balb-c-mice
#7
Mirza Muhammad Fahd Qadir, Attya Bhatti, Muhammad Usman Ashraf, Mansur Abdullah Sandhu, Sidrah Anjum, Peter John
ETHNOPHARMACOLOGICAL RELEVANCE: Cinnamomum verum (CV), also known as 'Dalchini', is the dry bark of the Cinnamomum verum (L.) plant, and has been used as a traditional Pakistani medicine to alleviate pain and inflammation in patients suffering from arthritic rheumatism. It contains alkaloids, triterpenes, Cinnamaldehyde and other volatile oils. The aim of the present study was to investigate the underlying biological effect of ethyl alcohol (EtOH) and methyl alcohol (MeOH) extracts from CV on collagen type-II induced arthritic (CIA) mice...
April 20, 2017: Inflammopharmacology
https://www.readbyqxmd.com/read/28398196/preconception-care-for-women-with-type-1-or-type-2-diabetes-mellitus-a-mixed-methods-study-exploring-uptake-of-preconception-care
#8
Sarah Earle, Anisah Tariq, Carol Komaromy, Cathy E Lloyd, M Ali Karamat, Jackie Webb, Paramjit S Gill
BACKGROUND: Diabetes mellitus is a global health problem and one of the most common medical conditions in pregnancy. A wide range of modifiable risk factors are associated with diabetes mellitus in pregnancy, and it is widely acknowledged that preconception care (PCC) is beneficial for women with pre-existing diabetes mellitus. However, uptake of PCC services is low. OBJECTIVES: To systematically review qualitative research on PCC for women with pre-existing diabetes mellitus of childbearing age, identify facilitators of and barriers to uptake of PCC and establish themes and gaps in knowledge...
March 2017: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/28381238/homozygous-germ-line-mutation-of-the-pms2-mismatch-repair-gene-a-unique-case-report-of-constitutional-mismatch-repair-deficiency-cmmrd
#9
N C Ramchander, N A J Ryan, E J Crosbie, D G Evans
BACKGROUND: Constitutional mismatch repair deficiency syndrome results from bi-allelic inheritance of mutations affecting the key DNA mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. Individuals with bi-allelic mutations have a dysfunctional mismatch repair system from birth; as a result, constitutional mismatch repair deficiency syndrome is characterised by early onset malignancies. Fewer than 150 cases have been reported in the literature over the past 20 years. This is the first report of the founder PMS2 mutation - NM_000535...
April 5, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28315472/complex-postaxial-polydactyly-types-a-and-b-with-camptodactyly-hypoplastic-third-toe-zygodactyly-and-other-digit-anomalies-caused-by-a-novel-gli3-mutation
#10
Sara Mumtaz, Esra Yıldız, Karmoon Lal, Aslıhan Tolun, Sajid Malik
Polydactyly is a phenotypically and genetically highly heterogeneous limb malformation with preaxial and postaxial subtypes and subtypes A and B. Most polydactyly entities are associated with GLI3 mutation. We report on 10 affected individuals from a large Pakistani kindred initially evaluated as a possible new condition. The phenotype is postaxial polydactyly types A and B associated with zygodactyly, postaxial webbing of toes and additional features not previously reported for isolated polydactyly such as camptodactyly, hypoplasia of third toe, and wide space between hallux and second toe...
May 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28303994/association-of-il-6-c-174g-rs-1800795-single-nucleotide-polymorphism-with-type-2-diabetes-mellitus-in-pakistani-population
#11
Amina Nadeem, Sadaf Mumtaz, Abdul Khaliq Naveed, Qaiser Mansoor, Muhammad Aslam, Arif Siddiqui, Muhammad Ismail
OBJECTIVE: To determine the association of interleukin-6 C-174G single nucleotide polymorphism with type 2 diabetes mellitus and metabolic parameters. METHODS: This case-control study was conducted from June 2012 to December 2013 at the Military Hospital Rawalpindi, the Centre for Research in Experimental and Applied Medicine, Army Medical College, Rawalpindi, and the Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan. Two cohorts of subjects were genotyped for the single nucleotide polymorphism...
March 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28258500/a-prevalence-study-of-potentially-inappropriate-medications-use-in-hospitalized-pakistani-elderly
#12
Faizan Mazhar, Shahzad Akram, Saima Mahmood Malhi, Nafis Haider
BACKGROUND: Inappropriate prescribing in elderly patients is a widespread health problem. It is associated with increased drug-related problems and health expenditure. AIMS: To determine the prevalence and types of potentially inappropriate medications (PIM) prescribed to elderly patients with polypharmacy and the factors associated with their use in these patients. METHODS: A cross-sectional study conducted among 228 elderly hospitalized patients with polypharmacy...
March 3, 2017: Aging Clinical and Experimental Research
https://www.readbyqxmd.com/read/28243421/malaria-four-year-epidemiological-trends-in-sistan-and-baluchistan-province-iran
#13
Faezeh Norouzinezhad, Fatemeh Ghaffari, Ahmad Raeisi, Abbas Norouzinejad, Farzad Kaveh
INTRODUCTION: Malaria is one of the foremost public health concerns in Iran, where more than 90% of malaria cases are reported in the southern and south-eastern areas of the country. The aim of this study was to assess the epidemiological trends of malaria over a four-year period in in the Sistan and Baluchistan province in south east of Iran. METHODS: This descriptive epidemiological study examined malaria trends in Sistan and Baluchistan province from 2011 to 2014...
January 2017: Electronic Physician
https://www.readbyqxmd.com/read/28190646/vocal-cord-paralysis-in-charcot-marie-tooth-type-4b1-disease-associated-with-a-novel-mutation-in-the-myotubularin-related-protein-2-gene-a-case-report-and-review-of-the-literature
#14
Alberto Andrea Zambon, Maria Grazia Natali Sora, Giovanna Cantarella, Federica Cerri, Angelo Quattrini, Giancarlo Comi, Stefano Carlo Previtali, Alessandra Bolino
Charcot-Marie-Tooth type 4B1 (CMT4B1) is an autosomal recessive motor and sensory demyelinating neuropathy characterized by the association of early-onset neurological symptoms and typical histological findings. The natural history and the clinical variability of the disease are still poorly known, thus further clarification of the different phenotypes is needed. We report on the case of a Pakistani girl born to consanguineous parents harboring a novel mutation in the MTMR2 gene. When aged 18 months, reduced limb tone, muscle wasting associated with proximal and distal weakness prevalent in lower limbs, absence of tendon reflexes, hoarseness and inspiratory stridor were detected...
May 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28179690/association-of-vitamin-d-deficiency-with-poor-glycaemic-control-in-diabetic-patients
#15
Khalida Iqbal, Najmul Islam, Naseema Mehboobali, Ali Asghar, Mohammad Perwaiz Iqbal
OBJECTIVE: An association between serum levels of vitamin D and glycaemic control in type-2 diabetes mellitus (DM) patients has been reported in some of the studies carried out in the West. However, there are no reports on this relationship in Pakistani diabetic patients. The aim of this study was to ascertain whether vitamin D levels have any influence on glycaemic control in Pakistani patients with type-2 DM. METHODS: In a cross-sectional survey, relationship between serum levels of 25-hydroxy vitamin D (25(OH)D) and glycated haemoglobin (HbA1C) was examined in 141 type-2 diabetic patients including 102 males and 39 females; age range 22 to 70 years, visiting the Aga Khan University Hospital during July 2013-April 2014...
December 2016: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28043516/evaluation-of-genotype-mtbdrplus-assay-for-rapid-detection-of-isoniazid-and-rifampicin-resistance-in-mycobacterium-tuberculosis-clinical-isolates-from-pakistan
#16
Hasnain Javed, Nazia Jamil, Tomasz Jagielski, Zofia Bakuła, Zarfishan Tahir
BACKGROUND: GenoType MTBDRplus is a molecular assay for detection of Mycobacterium tuberculosis resistance to isoniazid (INH) and rifampicin (RMP), the two major anti-tuberculosis (TB) drugs. Identification of INH resistance is largely based on the occurrence of mutations in the katG gene, coding for the catalase-peroxidase, or in the promoter region of the inhA gene, coding for the NADH-dependent enoyl-ACP reductase. For testing the RMP resistance, mutations in the rpoB gene, coding for the RNA polymerase β subunit, particularly in the RMP resistance determining region (RRDR) of the gene are investigated...
December 2016: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/27973692/type-2-diabetes-mellitus-in-people-with-severe-mental-illness-inequalities-by-ethnicity-and-age-cross-sectional-analysis-of-588-408-records-from-the-uk
#17
J Das-Munshi, M Ashworth, M E Dewey, F Gaughran, S Hull, C Morgan, J Nazroo, I Petersen, P Schofield, R Stewart, G Thornicroft, M J Prince
AIMS: To investigate whether the association of severe mental illness with Type 2 diabetes varies by ethnicity and age. METHODS: We conducted a cross-sectional analysis of data from an ethnically diverse sample of 588 408 individuals aged ≥18 years, registered to 98% of general practices (primary care) in London, UK. The outcome of interest was prevalent Type 2 diabetes. RESULTS: Relative to people without severe mental illness, the relative risk of Type 2 diabetes in people with severe mental illness was greatest in the youngest age groups...
December 14, 2016: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/27965375/recessive-progressive-symmetric-erythrokeratoderma-results-from-a-homozygous-loss-of-function-mutation-of-krt83-and-is-allelic-with-dominant-monilethrix
#18
Khadim Shah, Muhammad Ansar, Zaib-Un-Nisa Mughal, Falak Sher Khan, Wasim Ahmad, Tracey M Ferrara, Richard A Spritz
BACKGROUND: Progressive symmetric erythrokeratoderma (PSEK) is a rare skin disorder characterised by symmetrically distributed demarcated hyperkeratotic plaques, often with associated palmoplantar hyperkeratosis, with new plaques appearing over time. Most cases are inherited in an autosomal dominant manner, although a few cases exhibit apparent autosomal recessive inheritance. OBJECTIVE: To identify the gene underlying autosomal recessive PSEK in a large Pakistani kindred...
March 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27929723/prevalence-and-risk-factors-of-strabismus-in-a-uk-multi-ethnic-birth-cohort
#19
Alison Bruce, Gillian Santorelli
PURPOSE: To determine the prevalence, types and early-life risk factors associated with strabismus in a multi-ethnic birth cohort of children aged 4-5 years in the first year of school. METHODS: Data were collected prospectively over a 3-year period (2012-2015) from children participating in the vision screening program provided by orthoptists and carried out in schools located in the city of Bradford, UK. Prevalence of strabismus was determined for 17,018 children aged 4 to 5 years...
December 2016: Strabismus
https://www.readbyqxmd.com/read/27908797/molecular-detection-and-characterization-of-respiratory-syncytial-virus-b-genotypes-circulating-in-pakistani-children
#20
Uzma Bashir, Nadia Nisar, Nayab Mahmood, Muhammad Masroor Alam, Hajra Sadia, Syed Sohail Zahoor Zaidi
Respiratory syncytial virus (RSV) is the major cause of acute lower respiratory tract infections in young children, but very little is known about its epidemiology and circulating genotypes in Pakistan. This study analyzed the epidemiological and molecular characteristics of RSV B genotypes in Pakistani children below 5years with acute respiratory tract infections (ARIs) during three consecutive winter seasons from 2010 to 2013. A total of 1941 samples were analyzed for RSV infection by real time PCR and 24% (472/1941) samples were found positive out of which 22...
January 2017: Infection, Genetics and Evolution
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