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https://www.readbyqxmd.com/read/28546946/comment-on-homozygosity-mapping-of-a-consanguineous-pakistani-family-affected-with-oculocutaneous-albinism-to-tyrosinase-gene
#1
Muzammil Ahmad Khan
No abstract text is available yet for this article.
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28542506/impact-evaluation-of-different-cash-based-intervention-modalities-on-child-and-maternal-nutritional-status-in-sindh-province-pakistan-at-6-mo-and-at-1-y-a-cluster-randomised-controlled-trial
#2
Bridget Fenn, Tim Colbourn, Carmel Dolan, Silke Pietzsch, Murtaza Sangrasi, Jeremy Shoham
BACKGROUND: Cash-based interventions (CBIs), offer an interesting opportunity to prevent increases in wasting in humanitarian aid settings. However, questions remain as to the impact of CBIs on nutritional status and, therefore, how to incorporate them into emergency programmes to maximise their success in terms of improved nutritional outcomes. This study evaluated the effects of three different CBI modalities on nutritional outcomes in children under 5 y of age at 6 mo and at 1 y. METHODS AND FINDINGS: We conducted a four-arm parallel longitudinal cluster randomised controlled trial in 114 villages in Dadu District, Pakistan...
May 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28527973/molecular-analysis-of-group-a-rotaviruses-detected-in-hospitalized-children-from-rawalpindi-pakistan-during-2014
#3
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
#4
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/28523050/frequency-of-color-blindness-in-pre-employment-screening-in-a-tertiary-health-care-center-in-pakistan
#5
Shaukat Ali Chhipa, Farzeen K Hashmi, Shehreen Ali, Mustafa Kamal, Khabir Ahmad
OBJECTIVE: To describe the frequency of color vision deficiency among Pakistani adults presenting for pre-employment health screening in a tertiary care hospital. METHODS: The cross-sectional study was carried out at the Aga Khan University Hospital, Karachi, and the data was collected for color vision deficiency, age, gender, and job applied for from pre-employment examination during 2013-2014. IBM SPSS 20 was used for statistical analysis. RESULTS: Three thousand four hundred and thirty seven persons underwent pre-employment screening during 2013 and 2014; 1837 (53...
March 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28523047/alpha-thalassemia-deletions-found-in-suspected-cases-of-beta-thalassemia-major-in-pakistani-population
#6
Saba Shahid, Muhammad Nadeem, Danish Zahid, Jawad Hassan, Saqib Ansari, Tahir Shamsi
BACKGROUND & OBJECTIVE: Alpha (α) thalassemia is a hereditary disorder and is caused by deletions or mutations in globin genes. It is present in two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome and hemoglobin H (HbH) disease. It is highly prevalent in South-East Asia or Mediterranean countries. The most common deletion reported in alpha thalassemia in Pakistani population was -α(3.7) with a frequency of 8.3%, and the rare forms were -α(4.2) (0.2%) and ααα(anti3...
March 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28523016/what-regulatory-agencies-like-hec-pm-dc-can-do-to-help-improve-quality-and-standard-of-pakistani-biomedical-journals
#7
EDITORIAL
Shaukat Ali Jawaid, Masood Jawaid
No abstract text is available yet for this article.
March 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28521056/ethnic-minority-status-age-at-immigration-and-psychosis-risk-in-rural-environments-evidence-from-the-sepea-study
#8
James B Kirkbride, Yasir Hameed, Konstantinos Ioannidis, Gayatri Ankireddypalli, Carolyn M Crane, Mukhtar Nasir, Nikolett Kabacs, Antonio Metastasio, Oliver Jenkins, Ashkan Espandian, Styliani Spyridi, Danica Ralevic, Suneetha Siddabattuni, Ben Walden, Adewale Adeoye, Jesus Perez, Peter B Jones
Objective: Several ethnic minority groups experience elevated rates of first-episode psychosis (FEP), but most studies have been conducted in urban settings. We investigated whether incidence varied by ethnicity, generation status, and age-at-immigration in a diverse, mixed rural, and urban setting. Method: We identified 687 people, 16-35 years, with an ICD-10 diagnosis of FEP, presenting to Early Intervention Psychosis services in the East of England over 2 million person-years...
May 17, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28516222/population-data-of-17-y-strs-yfiler-from-punjabis-and-kashmiris-of-pakistan
#9
Atif Adnan, Allah Rakha, Anum Noor, Mannis van Oven, Arwin Ralf, Manfred Kayser
Pakistan harbors 16 major ethnic groups including Punjabis (56% of total population) and Kashmiri (6% of total population). Here, we report data of 17 Y-chromosomal short tandem repeats (Y-STRs) genotyped with the AmpFlSTR Y-filer™ PCR Amplification kit in 94 Punjabis and 101 Kashmiris. The estimated haplotype diversity was higher in Punjabis (0.996) than that in Kashmiris (0.983). Furthermore, we performed population genetic analyses by including data from six other Pakistani groups. The presented haplotype data were recently included in the Y-Chromosome Haplotype Reference Database (YHRD) for future forensic and other usage...
May 17, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28508706/british-pakistani-lesbians-existing-within-the-confines-of-the-closet
#10
Asifa Siraj
This study explores the complex interaction between ethnicity, gender and [homo]sexuality and how this creates a framework of stigma that compels some British Pakistani lesbians to remain within the closet. The 'closet' here is a metaphor that describes the concealment of one's homosexual identity and the outward 'performance' of heterosexuality. British Pakistani lesbians precariously inhabit a sociocultural environment that constrains the expression of female sexuality. Women who oppose and contravene heteronormative values and ideals unsettle comfortable assumptions of heterosexuality...
May 16, 2017: Culture, Health & Sexuality
https://www.readbyqxmd.com/read/28507374/ophthalmo-genetic-analysis-of-pakistani-patients-with-nonsyndromic-oculocutaneous-albinism-through-whole-exome-sequencing
#11
Hadia Gul, Muhammad Zeeshan Ali, Ejazullah Khan, Muhammad Zubair, Muhammad Badar, Saadullah Khan, Abdul Haleem Shah, Muzammil Ahmad Khan
Oculocutaneous albinism (OCA) is a disorder of defective melanin biosynthesis that is characterized by hypo-pigmentation of skin, hair and retinal pigment epithelium. Phenotypically, OCA patients exhibit white milky skin, whitish to golden hair and deterioration of retinal cells. Until recently, genetic studies have reported seven causative genes (TYR, TYRP1, OCA2, SLC45A2, SLC24A2, C10ORF11 and MCIR) and an uncharacterized OCA5 locus. Herein we present the medico-genetic study of three Pakistani patients inheriting autosomal recessive OCA...
May 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28506259/detection-of-antibacterial-activities-of-miswak-kalonji-and-aloe-vera-against-oral-pathogens-anti-proliferative-activity-against-cancer-cell-line
#12
Sameen Amjed, Kashaf Junaid, Junaid Jafar, Tuaha Amjad, Waqas Maqsood, Nadia Mukhtar, Kanza Tariq, Musarrat Sharif, Sana Javaid Awan, Farheen Ansari
BACKGROUND: Emerging drug resistance and hindrance of treatment is provoking scientists to search new, less expensive medicinally active compounds. Dental diseases caused by oral pathogens are very frequent chronic infections around the world. The medical potentials of a lot of Pakistani local herbs and herbal combinations is relatively unknown, hence attempted to explore. A study was designed to investigate potential role of local medicinal herbs for example Miswak, Kalonji & Aloe vera as antimicrobial, antioxidant and anti-proliferative agents against oral pathogens and cancer cell line...
May 15, 2017: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/28506074/primary-peripancreatic-lymph-node-tuberculosis-as-a-differential-diagnosis-of-pancreatic-neoplasia
#13
Nuria García Del Olmo, Andrea Boscà Robledo, Rafael Penalba Palmí, Elena Añón Iranzo, Javier Aguiló Lucía
Primary peripancreatic lymph node tuberculosis is an exceptional entity in immunocompetent patients, but its incidence is increasing in developed countries in recent years due to increasing immigration. It usually presents as a pancreatic mass and is misdiagnosed as pancreatic neoplasia in most cases, with the diagnosis of tuberculosis occurring after surgery. We report the case of a 38 year old Pakistani man with abdominal pain of several months duration, who was initially diagnosed with a pancreatic neoplasm after detecting a mass in the pancreatic isthmus by computed tomography (CT) and abdominal magnetic resonance imaging (MRI)...
May 16, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28501126/perceptions-regarding-helmet-use-a-cross-sectional-survey-of-female-pillions-in-karachi-pakistan
#14
Maryam Saeed, Selma Marie Siddiqui, Uzma Rahim Khan, Mamta Swaroop
BACKGROUND: In 2011, road traffic injury-associated fatalities among motorized two-wheeler (MTW) pillion riders (backseat two-wheeler passengers) rose 30% in Karachi. Despite mandatory helmet laws, helmet use fell 20% the same year. This study aims to identify opinions of female pillions on helmet usage and whether various forms of media influence their self-perception. METHODS: Trained surveyors, using a survey tool used in similar studies in South Asia, conducted random, man-on-the-street interviews of 400 women in four areas of Karachi...
May 1, 2017: Journal of Surgical Research
https://www.readbyqxmd.com/read/28498991/population-differentiation-in-common-walnut-juglans-regia-l-across-major-parts-of-its-native-range-insights-from-molecular-and-morphometric-data
#15
Wladimir Roor, Heino Konrad, Davletbek Mamadjanov, Thomas Geburek
Juglans regia is an economically highly important species for fruit and wood production in the warm temperate and subtropical zones of the Northern Hemisphere. Besides the natural influence of climatic and geomorphological barriers, its genetic structure has been strongly modified by humans and the population history is still unclear. For this reason, we investigated mainly natural walnut populations across the Eurasian continent on a molecular (44 populations, 581 trees) and morphometric level (23 populations, 1391 ripe nuts)...
June 1, 2017: Journal of Heredity
https://www.readbyqxmd.com/read/28492150/selective-screening-for-organic-acidurias-and-amino-acidopathies-in-pakistani-children
#16
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/28492148/immunohistochemical-expression-of-epidermal-growth-factor-receptor-in-head-and-neck-squamous-cell-carcinoma
#17
Moniba Zafar, Shoaib Naiyar Hashmi, Malik Jawad Faisal, Rabia Ahmed, Syed Salman Ali
OBJECTIVE: To determine the frequency of expression of epidermal growth factor receptor (EGFR) by immunohistochemistry in head and neck squamous cell carcinoma (HNSCC). STUDY DESIGN: Cross-sectional study. PLACE AND DURATION OF STUDY: Armed Forces Institute of Pathology (AFIP), Rawalpindi, from September 2015 to March 2016. METHODOLOGY: Fifty-two cases of head and neck squamous cell carcinoma diagnosed on H&E stain were included in the study...
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
#18
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/28482453/health-hazards-and-adoption-of-personal-protective-equipment-during-cotton-harvesting-in-pakistan
#19
Khuda Bakhsh, Nameem Ahmad, Shanza Tabasum, Sarfraz Hassan, Ishtiaq Hassan
The use of personal protective equipment (PPE) during cotton harvesting is critical for securing better health for female cotton pickers in the developing countries where health facilities are not sufficiently available to the masses in the rural areas. Despite increasing the efforts in increasing awareness about the benefits of PPE among the farm workers, a vast majority of the farm workers including pickers don't use the PPE. The present study examines health impacts of cotton harvesting in Pakistani Punjab along with the factors affecting the use of PPE among the cotton pickers...
May 2, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28482182/role-of-mal-gene-polymorphism-rs8177374-in-modulation-of-malaria-severity-in-the-pakistani-population
#20
Asima Rani, Syed Kashif Nawaz, Shazia Irfan, Muhammad Arshad, Razia Bashir, Najma Shaheen
INTRODUCTION: The present study was designed to investigate the association between rs8177374 polymorphism and malaria symptoms due to exposure of Plasmodium vivax and Plasmodium falciparum. MATERIALS AND METHODS: A total of 454 samples were included in the study (228 malaria patients and 226 healthy individuals). Malaria patients, divided into P. vivax and P. falciparum groups on the basis of the causative species of Plasmodium, were categorized into mild and severe on the basis of clinical outcomes according to WHO criteria...
May 5, 2017: Brazilian Journal of Infectious Diseases
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