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pakistani type

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
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...
October 13, 2016: Journal of Cellular Biochemistry
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
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
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
Namratha R Kandula, Swapna Dave, Peter John De Chavez, David X Marquez, Himali Bharucha, Shinu Mammen, Andrea Dunaif, Ronald T Ackermann, Santosh Kumar, Juned Siddique
PURPOSE: South Asians (Indians, Pakistanis, Bangladeshis, Sri Lankans, Nepalis, and Bhutanese) in the United States have a very high prevalence of type 2 diabetes mellitus (DM). This pilot study evaluated a culturally-tailored exercise intervention among South Asian immigrant mothers with DM risk factors. METHODS: Through an academic-community partnership, South Asian women with risk factors for DM and who had at least one child between 6-14 years were enrolled into this single-arm study...
June 15, 2016: Transl J Am Coll Sports Med
Aamna Hassan, Saima Riaz, Waleed Zafar
OBJECTIVE: To evaluate the prevalence of malignancy in incidental thyroidal uptake on PET with fluorine-18 deoxyglucose integrated with computed tomography (F-FDG PET/CT) in Pakistani cancer patients and to assess the role of standardized uptake value (SUV) in deciding which lesions to investigate further. METHOD: We retrospectively reviewed all patients who underwent F-FDG PET/CT scans over a period of 59 months and further analysed those with visually increased thyroidal uptake...
October 2016: Nuclear Medicine Communications
W Maalouf, W Maalouf, B Campbell, K Jayaprakasan
OBJECTIVE: To evaluate the effect of ethnicity of women on the outcome of in vitro fertilisation (IVF) or intracytoplasmic sperm injection (ICSI) treatment. DESIGN: Observational cohort study. SETTING: UK National Database. POPULATION: Data from 2000 to 2010 involving 38 709 women undergoing their first IVF/ICSI cycle were analysed. METHODS: Anonymous data were obtained from the Human Fertilization and Embryology Authority (HFEA), the statutory regulator of IVF and ICSI treatment in the UK...
August 19, 2016: BJOG: An International Journal of Obstetrics and Gynaecology
Yi Mou, Muhammad Ammar Athar, Yuzhen Wu, Ye Xu, Jianhua Wu, Zhenxing Xu, Zulfiqar Hayder, Saeed Khan, Muhammad Idrees, Muhammad Israr Nasir, Yiqun Liao, Qingge Li
Detection of anti-HBV drug resistance mutations is critical for therapeutic decision of chronic hepatitis B infection. We described a real-time PCR-based assay using multi-color melting curve analysis (MMCA) that could accurately detect 24 HBV nucleotide mutations at 10 amino acid positions in the reverse transcriptase region of the HBV polymerase gene. The two-reaction assay had a limit of detection of 5 copies per reaction and could detect 5% rtM204V minor mutant population in the presence of the major wild-type population when the overall concentration was 10(4) copies/μL...
August 17, 2016: Journal of Clinical Microbiology
Dina S Soliman, Shehab Fareed, Einas Alkuwari, Halima El-Omri, Ahmad Al-Sabbagh, Amna Gameel, Mohamed Yassin
Discordant lymphoma is rare condition in which different types of malignant lymphomas occurring in different anatomic sites. The two diseases may present clinically as concurrent or sequential disease (10). Herein we are reporting a Pakistani female in her 60s, a carrier of hepatitis B virus with multiple comorbidities presented with cervical lymphadenopathy, diagnosed as Hodgkin's lymphoma, mixed cellularity. During the staging workup, the patient was discovered to have extensive bone marrow (BM) involvement by Burkitt leukaemia/lymphoma (BL)...
2016: Clinical Medicine Insights. Blood Disorders
Razia Bano, Waleed Zafar, Amina Iqbal Khan, Sohaib Adil Fiaz, Mahwish Abid, Mohammad Zulqarnain Chaudhary, Neelam Siddique, Huma Majeed Khan
BACKGROUND: Breast lymphomas constitute a rare disease entity. To date, limited relevant data have been reported. We therefore here present a review of breast lymphoma patients treated at a single center over a 20 year period, focusing on histological types, treatment modalities and outcomes. MATERIALS AND METHODS: We identified patients who were diagnosed and treated for breast lymphoma at a single center from January 1995 to January 2014 and extracted data regarding patient demographics and clinical data...
2016: Asian Pacific Journal of Cancer Prevention: APJCP
Muhammad Owais Rashid, Naeemul Haq, Saad Farooq, Zareen Kiran, Sabeeh Siddique, Shahid Pervez, Najmul Islam
BACKGROUND: In 2015, thyroid carcinoma affected approximately 63,000 people in the USA, yet it remains one of the most treatable cancers. It is mainly classified into medullary and non-medullary types. Conventionally, medullary carcinoma was associated with heritability but increasing reports have now begun to associate non-medullary thyroid carcinoma with a genetic predisposition as well. It is important to identify a possible familial association in patients diagnosed with non-medullary thyroid carcinoma because these cancers behave more destructively than would otherwise be expected...
2016: Journal of Medical Case Reports
Christeen Ramane J Pedurupillay, Erlend Christoffer Sommer Landsend, Magnus Dehli Vigeland, Muhammad Ansar, Eirik Frengen, Doriana Misceo, Petter Strømme
We report on two brothers with visual impairment, and non-syndromic alopecia in the elder proband. The parents were first-degree Pakistani cousins. Whole exome sequencing of the elder brother and parents, followed by Sanger sequencing of all four family members, led to the identification of the variants responsible for the two phenotypes. One variant was a homozygous nonsense variant in the inhibitory subunit of the cone-specific cGMP phosphodiesterase gene, PDE6H:c.35C>G (p.Ser12*). PDE6H is expressed in the cones of the retina, which are involved in perception of color vision...
2016: Genes
Alia Pervez, Syeda Kiran Riaz, Azhar Mehmood, Rakhshanda Rashid, Muhammad Faraz Arshad Malik
AIM OF STUDY: Increased expression of human epidermal growth factor receptor type 2 (HER2) is significantly associated with poor prognosis in breast cancer patients. However, data on HER2 at transcript levels in Pakistani mammary tumor affected females is still limited. In the current study, HER2 transcripts were explored in breast cancer cohort and correlated with various clinical parameters. MATERIALS AND METHODS: Freshly excised tumors along with adjacent normal background tissues of 94 patients were collected at the time of surgery and immediately stored in RNAlater ® solution...
April 2016: Journal of Cancer Research and Therapeutics
Huma Arshad Cheema, Hassan Suleman Malik, Arit Parkash, Zafar Fayyaz
OBJECTIVE: To determine the frequency, presentation and outcome of various inherited metabolic diseases in children presenting in a tertiary care hospital, Lahore, Pakistan. STUDY DESIGN: An observational study. PLACE AND DURATION OF STUDY: Gastroenterology, Hepatology and Nutrition Department of The Children Hospital and Institute of Child Health, Lahore, from January 2011 to October 2014. METHODOLOGY: All children aged < 14 years with high suspicion of a metabolic disorder were inducted...
June 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Mark Lubinsky, Piranit Nik Kantaputra
While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth...
October 2016: American Journal of Medical Genetics. Part A
Irfan Qamruddin, Mohammad Khursheed Alam, Fazal Shahid, Sadaf Tanveer, Marvi Mukhtiar, Zainab Asim
OBJECTIVE: To determine and compare the cephalometric values among Pakistani males and females using commonly used sagittal skeletal measurements (ANB, Wits appraisal, Beta-angle) and newly developed cephalometric analyses (Yen-angle and W-angle). STUDY DESIGN: Observational, cross-sectional study. PLACE AND DURATION OF STUDY: Orthodontic Department of Baqai Medical University, Karachi, Pakistan, from August to October 2013. METHODOLOGY: Atotal of 209 pre-treatment lateral cephalometric radiographs of orthodontic patients were selected from departmental records, comprised of 92 males and 117 females...
May 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Sadia Sultan, Syed Mohammed Irfan, Saira Parveen1, Sanober Mustafa2
BACKGROUND: Acute lymphoblastic leukemia (ALL) is a malignant disease in which early lymphoid precursors proliferate and replace the normal hematopoiesis. It has distinctive clinical and biological features. In respect to adult ALL, available data from Pakistan are limited. Therefore we reviewed the demographical and clinico- hematological profiles along with FAB stratification of adult patients with ALL presented at our hospital. MATERIALS AND METHODS: In this cross sectional study, 51 adults (≥15 years) patients with ALL were enrolled from January 2010 to December 2014...
2016: Asian Pacific Journal of Cancer Prevention: APJCP
Sadia Sultan, Syed Mohammed Irfan, Saira Parveen, Ufaq Taufiq
BACKGROUND: Symptomatic multiple myeloma (MM) is an acquired B-cell malignant proliferation of anti- body secreting plasma cells, characterized by end organ damage due to monoclonal immunoglobulin secretion. The aim of this study wa to determine the stage stratification according to an international scoring system in adult Pakistani MM patients at presentation. MATERIALS AND METHODS: This single centre retrospective study extendedfrom January 2012 to December 2015...
2016: Asian Pacific Journal of Cancer Prevention: APJCP
Hafiza Fizzah Riaz, Shaheen Mannan, Sajid Malik
BACKGROUND: Rahim Yar Khan (RYK) District is a multi-ethnic assemblage of both ancient and migrated communities in Southern Punjab, Pakistan. There is a paucity of knowledge on the bio-demographic structure of this endogamous population. METHODS: We have carried out a cross-sectional epidemiological study in RYK District and recruited 2174 random Muslim married females. Detailed account of marital union types, level of consanguinity, and subject's fertility, was taken...
2016: Journal of Health, Population, and Nutrition
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