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https://www.readbyqxmd.com/read/28611678/a-fourth-klk4-mutation-is-associated-with-enamel-hypomineralisation-and-structural-abnormalities
#1
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
#2
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
#3
Hamza Arshad Dar, Areeba Mubashir, Manal Adil, Aiman Farzeen, Hasaan Naseer, Gohar Ayub, Sajid Mansoor, Aneela Javed
Human Immunodeficiency type 1 (HIV-1) is the major cause of Acquired Immunodeficiency Syndrome (AIDS) in humans, where the immune system totally succumbs to the virus. 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. Low literacy rates, high birth rates and associated maternal mortality plus a lack of clean drinking water and appropriate sanitation system have a serious impact on general living conditions contributing to a relatively short life-span...
June 8, 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
#4
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
#5
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
#6
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...
May 27, 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
#7
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
https://www.readbyqxmd.com/read/28523926/quantitative-evaluation-of-insulin-resistance-markers-in-pakistani-patients-suffering-from-hcv-associated-type-2-diabetes-mellitus
#8
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
#9
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
#10
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
#11
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 to improve care. 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 24, 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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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