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Michaela A H Hofrichter, Majid Mojarad, Julia Doll, Clemens Grimm, Atiye Eslahi, Neda Sadat Hosseini, Mohsen Rajati, Tobias Müller, Marcus Dittrich, Reza Maroofian, Thomas Haaf, Barbara Vona
BACKGROUND: Genetic heterogeneity and consanguineous marriages make recessive inherited hearing loss in Iran the second most common genetic disorder. Only two reported pathogenic variants (c.323G>C, p.Arg108Pro and c.419A>G, p.Tyr140Cys) in the S1PR2 gene have previously been linked to autosomal recessive hearing loss (DFNB68) in two Pakistani families. We describe a segregating novel homozygous c.323G>A, p.Arg108Gln pathogenic variant in S1PR2 that was identified in four affected individuals from a consanguineous five generation Iranian family...
May 18, 2018: BMC Medical Genetics
Sidra Rehman, Usman Ali Ashfaq, Bushra Ijaz, Sheikh Riazuddin
BACKGROUND: Without an effective vaccine, hepatitis C virus (HCV) remains a global threat, inflicting 170-300 million carriers worldwide at risk of cirrhosis and hepatocellular carcinoma (HCC). Though various direct acting antivirals have been redeemed the hepatitis C treatment, a few restraints persist including possible side effects, viral resistance emergence, excessive cost which restricts its availability to a common person. HYPOTHESIS: There is no preventive HCV vaccine available today so the discovery of potent antiviral natural flora and their bioactive constituents may help to develop preventive cures against HCV infection...
May 15, 2018: Microbial Pathogenesis
Muhammad Ansar, Hyunglok Chung, Yar M Waryah, Periklis Makrythanasis, Emilie Falconnet, Ali Raza Rao, Michel Guipponi, Ashok K Narsani, Ralph Fingerhut, Federico A Santoni, Emmanuelle Ranza, Ali M Waryah, Hugo J Bellen, Stylianos E Antonarakis
Developmental eye defects often severely reduce vision. Despite extensive efforts, for a substantial fraction of these cases the molecular causes are unknown. Recessive eye disorders are frequent in consanguineous populations and such large families with multiple affected individuals provide an opportunity to identify recessive causative genes. We studied a Pakistani consanguineous family with three affected individuals with congenital vision loss and progressive eye degeneration. The family was analyzed by exome sequencing of one affected individual and genotyping of all family members...
May 16, 2018: Human Molecular Genetics
Omar Irfan, Haris Khan, Zarrar Khan, Alina Ashraf, Rimsha Ahmed, Javaid Ahmad Khan, Ali Bin Sarwar Zubairi
OBJECTIVE: Granulomatosis with Polyangiitis (GPA) is an autoimmune, multi-system, small and medium vessel vasculitis with granulomatous inflammation. Aim of this study was to assess the clinical and radiological presentations of patients with GPA amongst the Pakistani population. It is a single centre retrospective single observation study. RESULTS: Study was conducted at the Aga Khan University Hospital, Karachi with records were reviewed from January 2000 to December 2017...
May 16, 2018: BMC Research Notes
Zaina Al Kanaani, Sarwat Mahmud, Silva P Kouyoumjian, Laith J Abu-Raddad
To characterize hepatitis C virus (HCV) epidemiology in Pakistan and estimate the pooled mean HCV antibody prevalence in different risk populations, we systematically reviewed all available records of HCV incidence and/or prevalence from 1989 to 2016, as informed by the Cochrane Collaboration Handbook. This systematic review was reported following the PRISMA guidelines. Populations were classified into six categories based on the risk of exposure to HCV infection. Meta-analyses were performed using DerSimonian and Laird random-effects models with inverse variance weighting...
April 2018: Royal Society Open Science
Mara Cavallin, Camille Maillard, Marie Hully, Marion Philbert, Nathalie Boddaert, Madeline Louise Reilly, Patrick Nitschké, Amandine Bery, Nadia Bahi-Buisson
Postnatal microcephaly comprises a heterogeneous group of neurodevelopmental disorders of varying severity, characterized by normal head size at birth, followed by a postnatal deceleration in head circumference of greater than 3 standard deviations (SD) below the mean. Many postnatal microcephaly syndromes are caused by mutations in genes known to be important for the regulation of gene expression in the developing forebrain. We studied a consanguineous Pakistani family with postnatal microcephaly, orofacial dyskinesia, spastic quadriplegia and, on MRI, cortical atrophy with myelination delay, suggestive of a FOXG1-like presentation...
May 11, 2018: European Journal of Medical Genetics
N M Shabana, Saleem Ullah Shahid, Shahida Hasnain
Background : We aimed to identify the genetic causes of common forms of obesity in the Pakistani people and find out the mechanistic link by observing the relationship of genes and serum lipid traits. Methods : 475 subjects were genotyped for two mutations in (leptin:N103K and proopiomelanocortin:R236G) and ten common variants in different genes. Serum lipids were also measured. Results : The prevalence of mutations was very low (one heterozygous subject each for both mutations), but fairly high minor/risk allele frequency (M/RAF) was observed for all SNPs...
May 11, 2018: Bioscience Reports
Aleena Mohib, Amara Zafar, Areeba Najam, Hafsa Tanveer, Rehana Rehman
Objective The aim of this study was to investigate the existence, knowledge, and the attitude of female students towards premenstrual syndrome (PMS). Methods This cross-sectional study was conducted in three universities in Karachi, Pakistan. A total of 448 female students participated in the study. The clinical criterion of American College of Obstetricians and Gynecologists (ACOG) for PMS was used to assess the prevalence of PMS in the participants. The questionnaire was set in four parts, one each to assess the knowledge, the attitude, and practices regarding PMS and one to assess the gap between self-perceived PMS and actual PMS...
March 8, 2018: Curēus
Maria Maryam, Muhammad Idrees
Epigenetic modifications such as DNA methylation contribute to progression of Hepatitis C virus (HCV) infection to life-threatening hepatocellular carcinoma (HCC), by promoting the silencing of tumor suppressor genes due to DNA hypermethylation and by causing genomic instability due to global hypomethylation. However few studies addressed promoter region hypomethylation status of the oncogenes involved in HCV derived HCC. In this study, we analyzed the promoter region methylation pattern of RAS oncogenes (HRAS, KRAS, NRAS) using methylation-specific PCR (MSP) for 50 Chronic HCV patients infected with genotype 3a (27 HCC patients and 23 Control non-HCC patients)...
May 9, 2018: Journal of Medical Virology
Salman Yousuf Guraya, Khalid Ibrahim Khoshhal, Muhamad Saiful Bahri Yusoff, Maroof Aziz Khan
OBJECTIVES: Research has shown a fall of research productivity of faculty after their promotion to professor rank. This study explores the factors that lead to this decline in research productivity of professors in medical discipline. METHODS: A 20-item questionnaire was distributed online to medical professors of a Saudi, Malaysian and a Pakistani medical school. The participants were instructed to select their responses on a 5-point Likert's scale and the collected data was analyzed for quantitative and qualitative results...
May 7, 2018: Medical Teacher
Tasnim Faisal, Kae Yi Tan, Si Mui Sim, Naeem Quraishi, Nget Hong Tan, Choo Hock Tan
The venom proteome of wild Pakistani Russell's viper (Daboia russelii) was investigated through nano-ESI-LCMS/MS of the reverse-phase HPLC fractions. A total of 54 venom proteins were identified and clustered into 11 protein families. Phospholipase A2 (PLA2 , 63.8%) and Kunitz-type serine protease inhibitor (KSPI, 16.0%) were most abundant, followed by snake venom serine protease (SVSP, 5.5%, mainly Factor V activating enzyme), vascular endothelial growth factor (VEGF, 4.3%), snake venom metalloprotease (SVMP, 2...
May 3, 2018: Journal of Proteomics
Kari Branham, Aditya A Guru, Igor Kozak, Pooja Biswas, Mohammad Othman, Kameron Kishaba, Hassan Mansoor, Sheikh Riazuddin, John R Heckenlively, S Amer Riazuddin, J Fielding Hejtmancik, Paul A Sieving, Radha Ayyagari
Retinal dystrophies are a phenotypically and genetically complex group of conditions. Because of this complexity, it can be challenging in many families to determine the inheritance based on pedigree analysis alone. Clinical examinations were performed and blood samples were collected from a North American (M1186) and a consanguineous Pakistani (PKRD168) pedigree affected with two different retinal dystrophies (RD). Based on the structure of the pedigrees, inheritance patterns in the families were difficult to determine...
2018: Advances in Experimental Medicine and Biology
Pooja Biswas, Muhammad Asif Naeem, Muhammad Hassaan Ali, Muhammad Zaman Assir, Shaheen N Khan, Sheikh Riazuddin, J Fielding Hejtmancik, S Amer Riazuddin, Radha Ayyagari
PURPOSE: To identify the molecular basis of inherited retinal degeneration (IRD) in a familial case of Pakistani origin using whole-exome sequencing. METHODS: A thorough ophthalmic examination was completed, and genomic DNA was extracted using standard protocols. Whole exome(s) were captured with Agilent V5 + UTRs probes and sequenced on Illumina HiSeq genome analyzer. The exomeSuite software was used to filter variants, and the candidate causal variants were prioritized, examining their allele frequency and PolyPhen2, SIFT, and MutationTaster predictions...
2018: Advances in Experimental Medicine and Biology
Mohammad Humayun, Abidullah Khan
A 30 year old married Pakistani woman presented in January 2018 with an eight month history of progressive left sided weakness, ataxia, spasticity, underdeveloped secondary sexual characteristics and primary infertility. She was the elder sister of a 19 year old bed bound woman who was diagnosed with vanishing white matter (VWM) disease 12 months previously. The MRI scan of the brain  demonstrated diffuse leukodystrophy and her hormonal assays were significant for premature ovarian failure. Results from her genetic tests demonstrated a point mutation in eukaryotic initiation factor 2B (EIF2B)...
2018: F1000Research
Massab Umair, Bilal Haider Abbasi, Salmaan Sharif, Muhammad Masroor Alam, Muhammad Suleman Rana, Ghulam Mujtaba, Yasir Arshad, M Qaiser Fatmi, Sohail Zahoor Zaidi
Rotavirus A species (RVA) is the leading cause of severe diarrhea among children in both developed and developing countries. Among different RVA G types, humans are most commonly infected with G1, G2, G3, G4 and G9. During 2003-2004, G3 rotavirus termed as "new variant G3" emerged in Japan that later disseminated to multiple countries across the world. Although G3 rotaviruses are now commonly detected globally, they have been rarely reported from Pakistan. We investigated the genetic diversity of G3 strains responsible RVA gastroenteritis in children hospitalized in Rawalpindi, Pakistan during 2014...
2018: PloS One
Humaira Aziz Sawal, Ricardo Harripaul, Anna Mikhailov, Kayla Vleuten, Farooq Naeem, Tanveer Nasr, Muhammad Jawad Hassan, John B Vincent, Muhammad Ayub, Muhammad Arshad Rafiq
Bilateral frontoparietal polymicrogyria (BFPP, MIM 606854) is a heterogeneous autosomal recessive disorder of abnormal cortical lamination, leading to moderate-to-severe intellectual disability (ID), seizure disorder, and motor difficulties, and caused by mutations in the G protein-coupled receptor 56 ( GPR56 ) gene. Twenty-eight mutations in 40 different families have been reported in the literature. The clinical and neuroimaging phenotype is consistent in these cases. The BFPP cortex consists of numerous small gyral cells, with scalloping of the cortical-white matter junction...
June 2018: Journal of Pediatric Genetics
Vincenzo Frusciante, Cristina Ferrari, Manuela Totaro, Guido Valle, Claudio Carmine Guida, Filippo Aucella, Paola Caputo, Giuseppe Rubini
BACKGROUND: Congenital erythropoietic porphyria (CEP) is a rare autosomal recessively inherited disorder with chronic and relatively stable presentation. Till now brain blood flow derangements have been described only in acute hepatic porphyrias. We describe the first findings of brain perfusion defects, studied by single photon emission tomography/computed tomography (SPET/CT), in two patients affected by CEP, by using a semi-quantification anatomic-standardized voxel-based program compared with magnetic resonance imaging (MRI) results...
January 2018: Hellenic Journal of Nuclear Medicine
Syed Sohail Zahoor Zaidi, Abdul Hameed, Naeem Ali, Muhammad Suleman Rana, Massab Umair, Muhammad Masroor Alam, Uzma Bashir Aamir, Adnan Khurshid, Salmaan Sharif, Shahzad Shaukat, Mehar Angez, Ghulam Mujtaba, Yasir Arshad, Ribqa Akthar, Mian Muhammad Sufian, Nayab Mehmood
Despite the availability of an effective vaccine, measles virus continues to cause significant morbidity and mortality in children worldwide. Molecular characterization of wild type measles strains is an invaluable component of epidemiological studies/surveillance systems that provides important information pertinent to outbreak linkages and transmission pathways. Serum samples and throat swabs were collected from suspected measles cases from Punjab province of Pakistan (2013-2015) and further tested for measles IgM through ELISA and RT-PCR for molecular characterization...
April 28, 2018: Journal of Medical Virology
Senhu Wang, Hei-Wan Mak
OBJECTIVES: To explore ethnic and generational differences in six physical health outcomes and whether these differences can be explained by health-related behaviors and socio-economic status. DESIGN: Multivariate analyses using nationally representative data in 2010-2011 on self-assessed general health, activity-limiting illness, doctor-diagnosed diabetes, doctor-diagnosed high blood pressure, doctor-diagnosed asthma and body mass index from 21,651 White British, 997 Pakistanis, 695 Bangladeshis, 1,126 Indians, 573 Black Caribbeans and 873 Black Africans, adjusted for age, gender, health-related behaviors and socio-economic status...
April 26, 2018: Ethnicity & Health
Wahid Hussain, Lal Badshah, Manzoor Ullah, Maroof Ali, Asghar Ali, Farrukh Hussain
BACKGROUND: The residents of remote areas mostly depend on folk knowledge of medicinal plants to cure different ailments. The present study was carried out to document and analyze traditional use regarding the medicinal plants among communities residing in Koh-e-Safaid Range northern Pakistani-Afghan border. METHODS: A purposive sampling method was used for the selection of informants, and information regarding the ethnomedicinal use of plants was collected through semi-structured interviews...
April 25, 2018: Journal of Ethnobiology and Ethnomedicine
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