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您的检索式：作者名="Ibrar Rafique"
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| 1 | Comprehensive genetic screening reveals wide spectrum of genetic variants in monogenic forms of diabetes among Pakistani population显示文摘BACKGROUND Monogenic forms of diabetes(MFD)are single gene disorders.Their diagnosis is challenging,and symptoms overlap with type 1 and type 2 diabetes.AIM To identify the genetic variants responsible for MFD in the Pakistani population and their frequencies.METHODS A total of 184 patients suspected of having MFD were enrolled.The inclusion criterion was diabetes with onset below 25 years of age.Brief demographic and clinical information were taken from the participants.The maturity-onset diabetes of the young(MODY)probability score was calculated,and glutamate decarboxylase ELISA was performed.Antibody negative patients and features resembling MODY were selected(n=28)for exome sequencing to identify the pathogenic variants.RESULTS A total of eight missense novel or very low-frequency variants were identified in 7 patients.Three variants were found in genes for MODY,i.e.HNF1A(c.169C>A,p.Leu57Met),KLF11(c.401G>C,p.Gly134Ala),and HNF1B(c.1058C>T,p.Ser353Leu).Five variants were found in genes other than the 14 known MODY genes,i.e.RFX6(c.919G>A,p.Glu307Lys),WFS1(c.478G>A,p.Glu160Lys)and WFS1(c.517G>A,p.Glu173Lys),RFX6(c.1212T>A,p.His404Gln)and ZBTB20(c.1049G>A,p.Arg350His).CONCLUSION The study showed wide spectrum of genetic variants potentially causing MFD in the Pakistani population.The MODY genes prevalent in European population(GCK,HNF1A,and HNF4a)were not found to be common in our population.Identification of novel variants will further help to understand the role of different genes causing the pathogenicity in MODY patient and their proper management and diagnosis. | Ibrar Rafique Asif Mir Shajee Siddiqui Muhammad Arif Nadeem Saqib Asher Fawwad Luc Marchand Muhammad Adnan Muhammad Naeem Abdul Basit Constantin Polychronakos | 2021 | World Journal of Diabetes2021，12，11： | 0 |
| 2 | Asymptomatic dengue infection in adults of major cities of Pakistan显示文摘Objective: To determine the asymptomatic dengue infection in adults of Pakistani population.Methods: This study was conducted in five major cities(Islamabad, Karachi, Lahore,Multan, and Peshawar) of Pakistan.A total of 5 230 adults aged 18 years and above without a history of dengue fever at any point in their life were enrolled from participating laboratories.Those who were confirmed for dengue previously were excluded.Of the total, 62.6%(n = 3 276) were male with an average age of 34.6 years.Participants were briefed about the objectives of the study, and written consent was obtained to perform dengue Ig G test using enzyme linked immunosorbent assay.The brief information related to age, gender and area was also taken on proforma.Results: Overall 32.3%(n = 1 691) was having asymptomatic dengue infection which was 67.5%(n = 756) in Karachi followed by 39.1%(n = 391) in Islamabad, 29.9%(n =316) in Lahore and 21%(n = 228) in Peshawar and none from Multan.More males were affected with asymptomatic dengue infection than females.The asymptomatic dengue infection was significantly higher in different cities; however, there was no significant difference with respect to age groups.Conclusions: The asymptomatic dengue infection is higher in cities i.e.Karachi,Islamabad and Lahore which are at risk of developing secondary dengue infections.There is a need of awareness among the public about secondary dengue infection. | Ibrar Rafique Muhammad Arif Nadeem Saqib Muhammad Arif Munir Huma Qureshi Ijaz-ul-Haq Taseer Rizwan Iqbal Waqaruddin Ahmed Tasleem Akhtar Rizwanullah | 2017 | Asian Pacific Journal of Tropical Medicine2017，10，10： | 0 |
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