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https://www.readbyqxmd.com/read/28438210/specific-and-quantitative-detection-of-human-polyomaviruses-bkpyv-and-jcpyv-in-the-healthy-pakistani-population
#1
Iqra Hussain, Fareeda Tasneem, Muhammed Umer, Ayesha Pervaiz, Muslim Raza, Muhammad Imran Arshad, Naveed Shahzad
BACKGROUND: The BK Polyomavirus (BKPyV) and JC polyomavirus (JCPyV) infections are widespread in human population and have been associated with severe kidney and brain disorders, respectively. The viruses remain latent primarily in reno-urinary tract, reactivating only in case of a compromised immune system. The seroepidemiology and molecular prevalence of BKPyV and JCPyV have been widely studied both in healthy and immunocompromised patients worldwide. However, data regarding the prevalence of these viruses in the immunocompetent or apparently healthy Pakistani population is lacking...
April 24, 2017: Virology Journal
https://www.readbyqxmd.com/read/28436831/gamma-power-in-rural-pakistani-children-links-to-executive-function-and-verbal-ability
#2
Amanda R Tarullo, Jelena Obradović, Brandon Keehn, Muneera A Rasheed, Saima Siyal, Charles A Nelson, Aisha K Yousafzai
Children in low- and middle-income countries are at high risk of cognitive deficits due to environmental deprivation that compromises brain development. Despite the high prevalence of unrealized cognitive potential, very little is known about neural correlates of cognition in this population. We assessed resting EEG power and cognitive ability in 105 highly disadvantaged 48-month-old children in rural Pakistan. An increase in EEG power in gamma frequency bands (21-30Hz and 31-45Hz) was associated with better executive function...
March 31, 2017: Developmental Cognitive Neuroscience
https://www.readbyqxmd.com/read/28429097/immunomodulatory-and-therapeutic-role-of-cinnamomum-verum-extracts-in-collagen-induced-arthritic-balb-c-mice
#3
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/28425259/analysis-of-fancc-gene-mutations-ivs4-4a-t-del322g-and-r548x-in-patients-with-fanconi-anemia-in-pakistan
#4
Iram Aftab, Saima Iram, Saba Khaliq, Muhammad Israr, Nadir Ali, Shah Jahan, Shabbir Hussain, Shagufta Khaliq, Shahida Mohsin
BACKGROUND/AIM: Fanconi anemia (FA) is an autosomal recessive disease determined by mutations in at least 16 genes, with distinct distributions in different populations. To the best of our knowledge, there are no reports regarding the molecular basis of the disease in FA patients in Pakistan. The current study aimed to determine the frequency of FANCC gene mutations, i.e. IVS4+4A>T, del322G, and R548X, in FA patients. MATERIALS AND METHODS: Genomic DNA was obtained from 36 FA patients...
April 18, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/28425126/novel-sequence-variants-in-the-liph-and-lpar6-genes-underlies-autosomal-recessive-woolly-hair-hypotrichosis-in-consanguineous-families
#5
Farooq Ahmad, Salma Sharif, Muhammad Furqan Ubaid, Khadim Shah, Muhammad Nasim Khan, Muhammad Umair, Zahid Azeem, Wasim Ahmad
Autosomal-recessive woolly hair/hypotrichosis (ARWH/H) is a rare genetic disorder of hair caused by variants in the LIPH and LPAR6 genes. The disease is characterized by congenital tightly curled hair leading to sparse hair later in life. In the present report genetic characterization of three consanguineous families of Pakistani origin, displaying clinical features of ARWH/H, was performed. Haplotype and DNA sequence analysis of the LIPH gene revealed a novel homozygous nonsense variant (c.688C > T; p...
April 19, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28420917/coping-strategies-mental-health-and-hiv-status-predictors-of-suicidal-behaviour-among-pwids
#6
Bushra Akram, Mubeen Ilyas
OBJECTIVE: To understand suicidal behaviour among people who inject drugs. METHODS: This correlational, cross-sectional study was conducted in two Pakistani cities of Gujrat and Jhelum from October 2015 to March 2016, and comprised male injecting-drug users aged18-60 years. Multistage systematic random sampling method was used. Urdu-translated versions of the brief cope inventory, mental health status scale and suicidal behaviour questionnaire (revised) were administered...
April 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28420904/estimating-risk-of-atherosclerotic-cardiovascular-diseases-in-non-atherosclerotic-pakistani-patients-study-conducted-at-national-institute-of-cardiovascular-diseases-karachi-pakistan
#7
Tariq Ashraf, Abdul Samad Achakzai, Fawad Farooq, Muhammad Anis Memon, Naeem Mengal, Khawaja Yawar Abbas, Haroon Ishaq, Abdul Mueed
OBJECTIVE: To assess ten-year and lifetime estimated cardiovascular disease risks in non-atherosclerotic subjects. METHODS: This cross-sectional study was carried out at the National Institute of Cardiovascular Disease, Karachi, from July 2014 to March 2015, and comprised male and female subjects with multi-ethnic background, aged 20-79 years and having non-atherosclerotic disease. SPSS 22 was used for data analysis. RESULTS: Of the 437 participants, 174(39...
April 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28418496/homozygosity-mapping-and-genetic-analysis-of-autosomal-recessive-retinal-dystrophies-in-144-consanguineous-pakistani-families
#8
Lin Li, Yabin Chen, Xiaodong Jiao, Chongfei Jin, Dan Jiang, Mukesh Tanwar, Zhiwei Ma, Li Huang, Xiaoyin Ma, Wenmin Sun, Jianjun Chen, Yan Ma, Oussama M'hamdi, Gowthaman Govindarajan, Patricia E Cabrera, Jiali Li, Nikhil Gupta, Muhammad Asif Naeem, Shaheen N Khan, Sheikh Riazuddin, Javed Akram, Radha Ayyagari, Paul A Sieving, S Amer Riazuddin, J Fielding Hejtmancik
Purpose: The Pakistan Punjab population has been a rich source for identifying genes causing or contributing to autosomal recessive retinal degenerations (arRD). This study was carried out to delineate the genetic architecture of arRD in the Pakistani population. Methods: The genetic origin of arRD in a total of 144 families selected only for having consanguineous marriages and multiple members affected with arRD was examined. Of these, causative mutations had been identified in 62 families while only the locus had been identified for an additional 15...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28418495/molecular-genetic-analysis-of-pakistani-families-with-autosomal-recessive-congenital-cataracts-by-homozygosity-screening
#9
Jianjun Chen, Qiwei Wang, Patricia E Cabrera, Zilin Zhong, Wenmin Sun, Xiaodong Jiao, Yabin Chen, Gowthaman Govindarajan, Muhammad Asif Naeem, Shaheen N Khan, Muhammad Hassaan Ali, Muhammad Zaman Assir, Fawad Ur Rahman, Zaheeruddin A Qazi, Sheikh Riazuddin, Javed Akram, S Amer Riazuddin, J Fielding Hejtmancik
Purpose: To identify the genetic origins of autosomal recessive congenital cataracts (arCC) in the Pakistani population. Methods: Based on the hypothesis that most arCC patients in consanguineous families in the Punjab areas of Pakistan should be homozygous for causative mutations, affected individuals were screened for homozygosity of nearby highly informative microsatellite markers and then screened for pathogenic mutations by DNA sequencing. A total of 83 unmapped consanguineous families were screened for mutations in 33 known candidate genes...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28410600/primary-adrenal-non-hodgkin-lymphoma-a-case-report-and-review-of-the-literature
#10
Nanik Ram, Owais Rashid, Saad Farooq, Imran Ulhaq, Najmul Islam
BACKGROUND: Lymphomas are cancers that arise from the white blood cells and have been traditionally divided into two large subtypes: Hodgkin and non-Hodgkin lymphoma. B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma; almost 85% of patients with lymphoma have this variant. Lymphomas can potentially arise from any lymphoid tissue located in the body; however, primary adrenal non-Hodgkin lymphoma is extremely rare. We report the history, examination findings, and laboratory results of a 50-year-old man diagnosed with a primary left adrenal diffuse large B-cell lymphoma...
April 15, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28403827/a-novel-mutation-in-homeobox-dna-binding-domain-of-hoxc13-gene-underlies-pure-hair-and-nail-ectodermal-dysplasia-ectd9-in-a-pakistani-family
#11
Anwar Kamal Khan, Noor Muhammad, Abdul Aziz, Sher Alam Khan, Khadim Shah, Abdul Nasir, Muzammil Ahmad Khan, Saadullah Khan
BACKGROUND: Pure hair and nail ectodermal dysplasia (PHNED) is a congenital disorder of hair abnormalities and nail dysplasia. Both autosomal recessive and dominant inheritance fashion of PHNED occurs. In literature, to date, five different forms of PHNED have been reported at molecular level, having three genes known and two loci with no gene yet. METHODS: In this study, a four generations consanguineous family of Pakistani origin with autosomal recessive PHNED was investigated...
April 12, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28399916/a-comparison-of-antenatal-classifications-of-overweight-and-obesity-prevalence-between-white-british-indian-pakistani-and-bangladeshi-pregnant-women-in-england-analysis-of-retrospective-data
#12
Rebecca Garcia, Nasreen Ali, Andy Guppy, Malcolm Griffiths, Gurch Randhawa
BACKGROUND: Maternal obesity increases women's risk of poor birth outcomes, and statistics show that Pakistani and Bangladeshi women (who are born or settled) in the UK experience higher rates of perinatal mortality and congenital anomalies than white British or white Other women. This study compares the prevalence of maternal obesity in Indian, Pakistani, Bangladeshi and white British women using standard and Asian-specific BMI metrics. METHOD: Retrospective cross-sectional analysis using routinely recorded secondary data in Ciconia Maternity information System (CMiS), between 2008 and 2013...
April 11, 2017: BMC Public Health
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
#13
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/28397838/mapping-autosomal-recessive-intellectual-disability-combined-microarray-and-exome-sequencing-identifies-26-novel-candidate-genes-in-192-consanguineous-families
#14
R Harripaul, N Vasli, A Mikhailov, M A Rafiq, K Mittal, C Windpassinger, T I Sheikh, A Noor, H Mahmood, S Downey, M Johnson, K Vleuten, L Bell, M Ilyas, F S Khan, V Khan, M Moradi, M Ayaz, F Naeem, A Heidari, I Ahmed, S Ghadami, Z Agha, S Zeinali, R Qamar, H Mozhdehipanah, P John, A Mir, M Ansar, L French, M Ayub, J B Vincent
Approximately 1% of the global population is affected by intellectual disability (ID), and the majority receive no molecular diagnosis. Previous studies have indicated high levels of genetic heterogeneity, with estimates of more than 2500 autosomal ID genes, the majority of which are autosomal recessive (AR). Here, we combined microarray genotyping, homozygosity-by-descent (HBD) mapping, copy number variation (CNV) analysis, and whole exome sequencing (WES) to identify disease genes/mutations in 192 multiplex Pakistani and Iranian consanguineous families with non-syndromic ID...
April 11, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28392607/in-the-pursuit-of-sons-additional-births-or-sex-selective-abortion-in-pakistan
#15
Batool Zaidi, S Philip Morgan
Even though Pakistan is a highly patriarchal society, it has not featured prominently in studies focusing on sex-selective abortion and sex ratios at birth. But with fertility declining and existing strong son preference-Pakistan has one of the highest desired sex ratios in the world-how will Pakistani families respond? In the pursuit of sons, will they have additional children or resort to sex-selective abortions? Or is there evidence that the pursuit of sons is weakening? Using data from three rounds of the demographic and health survey, we show clear evidence of son preference in fertility intentions, patterns of contraceptive use and parity progression ratios...
December 2016: Population and Development Review
https://www.readbyqxmd.com/read/28389831/-the-healthy-migrant-effect-for-mental-health-in-england-propensity-score-matched-analysis-using-the-empiric-survey
#16
Amrit Dhadda, Giles Greene
Evidence has demonstrated that immigrants have a mental health advantage over the indigenous population of developed countries. However, much of the evidence-base demonstrating this mental health advantage is susceptible to confounding and inadequate adjustment across immigrant and non-immigrant groups preventing a rigorous assessment of a 'healthy migrant effect'. To compare the risk of common mental disorders in the immigrant population compared to the non-immigrant population in ethnic minority groups in England...
April 7, 2017: Journal of Immigrant and Minority Health
https://www.readbyqxmd.com/read/28387877/molecular-diversity-of-pakistani-mango-mangifera-indica-l-varieties-based-on-microsatellite-markers
#17
T Nazish, G Shabbir, A Ali, S Sami-Ul-Allah, M Naeem, M Javed, S Batool, H Arshad, S B Hussain, K Aslam, R Seher, M Tahir, M Baber
Understanding the genetic diversity of different Pakistani mango varieties is important for germplasm management and varietal characterization. Microsatellites are efficient and highly polymorphic markers for comparative genome mapping, and were used in the present study to determine the genetic relatedness and variability among 15 indigenous mango cultivars (Mangifera indica L.). Overall, 181 bands were produced using 12 simple sequence repeat (SSR) primers. Out of the 12 primers used, 10 were polymorphic and two were monomorphic...
April 5, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28386709/in-silico-analysis-of-five-missense-mutations-in-cyp1b1-gene-in-pakistani-families-affected-with-primary-congenital-glaucoma
#18
Sabika Firasat, Haiba Kaul, Usman Ali Ashfaq, Sobia Idrees
PURPOSE: The purpose of this study was to characterize the five missense mutations in CYP1B1 gene identified in Pakistani families affected with primary congenital glaucoma (PCG) using various bioinformatics and protein modeling tools. METHODS: We previously reported four novel missense mutations in CYP1B1 gene segregating in consanguineous Pakistani families. These mutations were identified by direct sequencing of all coding exons, the exon-intron boundaries and the 5' untranslated region of CYP1B1 using genomic DNA from affected and unaffected family members...
April 6, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28386678/identification-of-novel-potential-genetic-predictors-of-urothelial-bladder-carcinoma-susceptibility-in-pakistani-population
#19
Syeda Hafiza Benish Ali, Kashif Sardar Bangash, Abdur Rauf, Muhammad Younis, Khursheed Anwar, Raja Khurram, Muhammad Athar Khawaja, Maleeha Azam, Abid Ali Qureshi, Saeed Akhter, Lambertus A Kiemeney, Raheel Qamar
Urothelial bladder carcinoma (UBC) is the most common among urinary bladder neoplasms. We carried out a preliminary study to determine the genetic etiology of UBC in Pakistani population, for this 25 sequence variants from 17 candidate genes were studied in 400 individuals by using polymerase chain reaction-based techniques. Multivariate logistic regression analysis was performed for association analysis of the overall data as well as the data stratified by smoking status, tumor grade and tumor stage. Variants of GSTM1, IGFBP3, LEPR and ACE were found to be associated with altered UBC risk in the overall comparison...
April 6, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28386582/preliminary-phytochemical-screening-quantitative-analysis-of-alkaloids-and-antioxidant-activity-of-crude-plant-extracts-from-ephedra-intermedia-indigenous-to-balochistan
#20
Rahman Gul, Syed Umer Jan, Syed Faridullah, Samiullah Sherani, Nusrat Jahan
The aim of this study was to evaluate the antioxidant activity, screening the phytogenic chemical compounds, and to assess the alkaloids present in the E. intermedia to prove its uses in Pakistani folk medicines for the treatment of asthma and bronchitis. Antioxidant activity was analyzed by using 2,2-diphenyl-1-picryl-hydrazyl-hydrate assay. Standard methods were used for the identification of cardiac glycosides, phenolic compounds, flavonoids, anthraquinones, and alkaloids. High performance liquid chromatography (HPLC) was used for quantitative purpose of ephedrine alkaloids in E...
2017: TheScientificWorldJournal
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