keyword
MENU ▼
Read by QxMD icon Read
search

pakistani type

keyword
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
#1
Sara Mumtaz, Esra Yildiz, 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...
March 14, 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
#2
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
#3
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
#4
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
#5
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...
January 16, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28179690/association-of-vitamin-d-deficiency-with-poor-glycaemic-control-in-diabetic-patients
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/27872574/prevalence-and-pattern-of-dyslipidemia-in-hyperglycemic-patients-and-its-associated-factors-among-pakistani-population
#12
Maliha Sarfraz, Sanaullah Sajid, Muhammad Aqeel Ashraf
In diabetes mellitus dyslipidemia is one of the major risk factors for cardiovascular disease. In type 2 diabetes mellitus early detection and treatment of dyslipidemia can avoid risk for cardiovascular disorder. The present study was carried to determine the prevalence and pattern of hyperlipidemia in patients with hyperglycemia. The cross sectional study was done in different laboratories of Pakistan, the laboratories served patients referred from different government and private hospitals between July 2014 and June 2015...
November 2016: Saudi Journal of Biological Sciences
https://www.readbyqxmd.com/read/27821098/frequency-of-her2-neu-expression-in-colorectal-adenocarcinoma-a-study-from-developing-south-asian-country
#13
Asma Shabbir, Talat Mirza, Abdullah Bin Khalid, Muhammad Asif Qureshi, Sadaf Ahmed Asim
BACKGROUND: Human Epidermal Growth Factor (Her-2/neu) has strong therapeutic implications in certain cancers like breast and gastric cancer. Literature on its frequency in colorectal cancer is scarce. In this study, we have investigated the frequency of Her-2/neu expression in colorectal adenocarcinomas and its association with various clinicopathological variables. METHODS: A total of 95 patients who underwent colonoscopic biopsy or colectomy were studied after Institutional Ethical Approval...
November 7, 2016: BMC Cancer
https://www.readbyqxmd.com/read/27818685/primary-sjogren-s-syndrome-presenting-as-acute-interstitial-pneumonitis-hamman-rich-syndrome
#14
Abidullah Khan, Mohammad Humayun, Iqbal Haider, Maimoona Ayub, Zakir Shah, Fahad Ajmal
A previously well, 45-year-old Pakistani lady was admitted to the medical unit on-call of Khyber Teaching Hospital (KTH) Peshawar with a 5-day history of fever, productive cough with copious mucoid sputum, dyspnea, and pleuritic chest pain. She also complained of dry eyes, mouth, and vagina. Her chest X-ray showed diffuse alveolar shadowing and arterial gas analysis confirmed type 1 respiratory failure. Over the next few days, she deteriorated rapidly making an urgent transfer to the medical intensive care unit (MICU) necessary, where she was mechanically ventilated...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27812055/carotid-intima-media-thickness-evaluation-by-ultrasound-comparison-amongst-healthy-diabetic-and-hypertensive-pakistani-patients
#15
Waseem Mirza, Mubashir Arain, Arif Ali, Vaqar Bari, Mirza Kazim, Kainat Fatima, Zafar Sajjad, Aziz Jiwani, Nadeem Ahmad
OBJECTIVE: To compare carotid Intima media thickness and atherosclerosis burden amongst healthy, diabetic and hypertensive Pakistani patients. METHODS: A cross-sectional study was carried out at the Department of radiology and family medicine, Aga Khan University Hospital Karachi from April 2014 to July 2015. Bilateral carotid ultrasound was done in 133 healthy adults, 65 hypertensive, 31 type-2 diabetic and 37 hypertensive with type-2 diabetes patients. Normal adults were matched for age and gender...
November 2016: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/27764129/the-phylogeographic-and-spatiotemporal-spread-of-hcv-in-pakistani-population
#16
Noor-Ul-Huda Ghori, Atif Shafique, Muhammad Qasim Hayat, Sadia Anjum
Hepatitis C Virus (HCV) is the most prevalent human pathogen in Pakistan and is the major cause of liver cirrhosis and hepatocellular carcinoma in infected patients. It has shifted from being hypo-endemic to being hyper-endemic. There was no information about the origin and evolution of the local variants. Here we use newly developed phyloinformatic methods of sequence analysis to conduct the first comprehensive investigation of the evolutionary and biogeographic history in unprecedented detail and breadth...
2016: PloS One
https://www.readbyqxmd.com/read/27735988/detection-of-flt3-tkd-and-idh1-mutations-in-pakistani-acute-myeloid-leukemia-patients-by-denaturing-hplc
#17
Akbar Ali, Rosemary E Gale, Abdul Rauf Shakoori
Acute myeloid leukemia (AML) is characterized by an increase in the number of myeloid cells in the marrow and an arrest in their maturation. Various genetic mutations are associated with AML. FMS-like tyrosine kinase 3 (FLT3), a member of the class III receptor tyrosine kinase family, plays an important role in stem cell survival, and the development of dendritic and natural killer cells. FLT3/TKD mutations are generally missense mutations or in-frame alterations of residues D835 and I836 within the activation loop of the FLT3 protein...
May 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/27678447/frameshift-mutation-in-the-apoa5-gene-causing-hypertriglyceridemia-in-a-pakistani-family-management-and-considerations-for-cardiovascular-risk
#18
Sébastien Thériault, Andrew Don-Wauchope, Michael Chong, Ricky Lali, Katherine M Morrison, Guillaume Paré
We report a novel homozygous apolipoprotein A5 (APOA5) frameshift mutation (c.G425del-C, p.Arg143AlafsTer57) identified in a 12-year-old boy of Pakistani origin with severe hypertriglyceridemia (up to 35 mmol/L) and type V hyperlipoproteinemia. The patient did not respond to fibrate therapy, but his condition improved under a very low fat diet, although compliance was suboptimal. Heterozygous status was detected in both parents (consanguineous union) and one sibling, all showing moderate hypertriglyceridemia (between 5 and 10 mmol/L)...
September 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27644653/clinico-hematological-findings-for-classical-hodgkin-s-lymphoma-an-institutional-experience
#19
Sadia Sultan, Syed Mohammed Irfan, Saira Parveen, Saif Ali
BACKGROUND: Classical Hodgkin's lymphoma (cHL) is a B-cell lymphoid neoplasm characterized by a distinctive biological behavior with potentially curable disease characteristics. It is an uncommon hematological malignancy which primarily affects younger individuals. The rationale of this study was to determine its clinico-hematological profile along with stage strati cation in Pakistani patients. MATERIALS AND METHODS: In this descriptive study, adult patients with Hodgkin's lymphoma were enrolled from January 2010 to December 2014...
2016: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/27636408/increased-prevalence-of-metabolic-risk-factors-in-asian-americans-with-hepatocellular-carcinoma
#20
Alina Kutsenko, Maya R Ladenheim, Nathan Kim, Pauline Nguyen, Vincent Chen, Channa Jayasekera, Ju Dong Yang, Radhika Kumari, Lewis Roberts, Mindie H Nguyen
BACKGROUND: We used metabolic risk factors to estimate the prevalence and clinical significance of nonalcoholic fatty liver disease in Asian Americans with hepatocellular carcinoma (HCC). METHODS: This is a retrospective cohort study of 824 consecutive Asian HCC patients at Stanford University Medical Center from 1998 to 2015. Patients were subdivided as: Chinese, other East Asian (Japanese and Korean), South East Asian (Vietnamese, Thai, and Laotian), Maritime South East Asian (MSEA: Malaysian, Indonesian, Filipino, and Singaporean), and South West Asian (Indian, Pakistani, and Middle Eastern)...
September 15, 2016: Journal of Clinical Gastroenterology
keyword
keyword
72692
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"