نتایج جستجو برای: pndm

تعداد نتایج: 79  

2011
Pak Leung Ho Wai U. Lo Man Kiu Yeung Chi Ho Lin Kin Hung Chow Irene Ang Amy Hin Yan Tong Jessie Yun-Juan Bao Si Lok Janice Yee Chi Lo

BACKGROUND The emergence of plasmid-mediated carbapenemases, such as NDM-1 in Enterobacteriaceae is a major public health issue. Since they mediate resistance to virtually all β-lactam antibiotics and there is often co-resistance to other antibiotic classes, the therapeutic options for infections caused by these organisms are very limited. METHODOLOGY We characterized the first NDM-1 producin...

2011
Rochelle N Naylor Siri Atma W Greeley Graeme I Bell Louis H Philipson

Neonatal diabetes mellitus (NDM) is the term commonly used to describe diabetes with onset before 6 months-of-age. It occurs in approximately one out of every 100,000-300,000 live births. Although this term encompasses diabetes of any etiology, it is recognized that NDM diagnosed before 6 months-of-age is most often monogenic in nature. Clinically, NDM subgroups include transient (TNDM) and per...

Journal: :Human molecular genetics 2005
Anna L Gloyn Frank Reimann Christophe Girard Emma L Edghill Peter Proks Ewan R Pearson I Karen Temple Deborah J G Mackay Julian P H Shield Debra Freedenberg Kathryn Noyes Sian Ellard Frances M Ashcroft Fiona M Gribble Andrew T Hattersley

Neonatal diabetes can either remit and hence be transient or else may be permanent. These two phenotypes were considered to be genetically distinct. Abnormalities of 6q24 are the commonest cause of transient neonatal diabetes (TNDM). Mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium channel (K(ATP)), are the commonest cause of permanent neonatal ...

ژورنال: :iranian journal of neonatology 0
رحیم رحیم وکیلی rahim vakili mashhad university of medical sciences, mashhad, iran. مارتا مارتا قهرمان marta ghahraman mashhad university of medical sciences, mashhad, iran. نصرت نصرت قائمی nosrat ghaemi mashhad university of medical sciences, mashhad, iran. بتول بتول فرجی batool faraji mashhad university of medical sciences, mashhad, iran. مهین مهین هاشمی پور mahin hashemi poor isfahan university of medical sciences, isfahan, iran. الهام الهام احمدی elham ahmadi kerman university of medical sciences, kerman, iran. محمدرضا محمدرضا عباس زادگان

خلاصه: در این مطالعه ژن kcnj11 از 35 نفر مبتلا به دیابت نوع 1 با سن کمتر از  6 ماه  که در طول مدت 3 سال تشخیص داده شده اند را توصیف می کنیم. شش نوع جهش هتروزیگوت مختلف missense در 7 نفر از 35 فرد مبتلا(20%( یافت شد. یک جهش novel در w68r (no locus, gu170814; 2009) در kir6.2 ، زیر واحد های تشکیل دهنده از کانال های katp از β پانکراس، سلول تشخیص داده شد. نتایج ما نشان می دهد که فعال شدن جهش در kcnj...

Journal: :Diabetes care 2014
Dario Iafusco Silvana Salardi Giovanni Chiari Sonia Toni Ivana Rabbone Roberta Pesavento Bruno Pasquino Antonella de Benedictis Giulio Maltoni Carlo Colombo Lucia Russo Ornella Massa Maurizio Sudano Francesco Cadario Massimo Porta Fabrizio Barbetti

The knowledge about the long-term consequences of diabetes with onset in the neonatal period is scanty. We investigated the impact of long-standing diabetes (.15 years) on the retina of 10 patients with permanent neonatal diabetes mellitus (PNDM) (diabetes diagnosis within 6 months of birth) associated with mutations of GCK, KCNJ11, INS, or ABCC8 genes and of two parents carrying an INS gene mu...

2018

Submit Manuscript | http://medcraveonline.com Abbreviations: ETS: Emission Trading Scheme; PMR: Partnership for Market Readiness; ISEGP: Integrated Solar Energy Generation Project; IWEP: Integrated Wind Energy Project; NPAC: National Plan of Action again Climate Change; UNFCCC: United Nations Framework Convention on Climate Change; NCCC: National Committee for Climate Change; REUNET: Renewable ...

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