نتایج جستجو برای: pndm

تعداد نتایج: 79  

2013
Tomoyuki Takagi Hiroto Furuta Masakazu Miyawaki Kazuaki Nagashima Takeshi Shimada Asako Doi Shohei Matsuno Daisuke Tanaka Masahiro Nishi Hideyuki Sasaki Nobuya Inagaki Norishige Yoshikawa Kishio Nanjo Takashi Akamizu

AIMS/INTRODUCTION The adenosine triphosphate (ATP)-sensitive potassium (KATP) channel is a key component of insulin secretion in pancreatic β-cells. Activating mutations in ABCC8 encoding for the sulfonylurea receptor subunit of the KATP channel have been associated with the development of neonatal diabetes mellitus (NDM). The aim was to investigate clinical and functional characterization of t...

Journal: :Archives of endocrinology and metabolism 2015
Eva Lau Cintia Correia Paula Freitas Claúdia Nogueira Maria Costa Ana Saavedra Carla Costa Davide Carvalho Manuel Fontoura

Permanent neonatal diabetes (PNDM) can result from activating heterozygous mutations in KCNJ11 gene, encoding the Kir6.2 subunit of the pancreatic ATP-sensitive potassium channels (KATP). Sulfonylureas promote KATP closure and stimulate insulin secretion, being an alternative therapy in PNDM, instead of insulin. Male, 20 years old, diagnosed with diabetes at 3 months of age. The genetic study i...

Journal: :The Journal of antimicrobial chemotherapy 2013
Zhiyong Zong Xingzhuo Zhang

OBJECTIVES This study screened hospital sewage for the presence of blaNDM. METHODS Colonies grown from plates containing meropenem streaked with hospital sewage were screened for blaNDM by PCR. Species identification was performed by sequencing 16S rRNA genes. Clonal relatedness of isolates was determined by Enterobacterial repetitive intergenic consensus sequence-PCR, sequencing recA and PFG...

Journal: :JPMA. The Journal of the Pakistan Medical Association 2016
Fareed Ahmed Ghazala Kazi Waqas Khan

Neonatal diabetes mellitus (NDM) is a rare manifestation with an incidence of one affected individual among 400000 live births. NDM can be divided into Transient (TNDM) and Permanent (PNDM) types. A significant overlap occurs between both groups, to an extent that TNDM cannot be distinguished from PNDM based solely on clinical features. Diabetic ketoacidosis (DKA) is the leading cause of morbid...

Journal: :Diabetes 2007
Ricard Masia Diva D De Leon Courtney MacMullen Heather McKnight Charles A Stanley Colin G Nichols

OBJECTIVE We sought to examine the molecular mechanisms underlying permanenent neonatal diabetes mellitus (PNDM) in a patient with a heterozygous de novo L225P mutation in the L0 region of the sulfonylurea receptor (SUR)1, the regulatory subunit of the pancreatic ATP-sensitive K(+) channel (K(ATP) channel). RESEARCH DESIGN AND METHODS The effects of L225P on the properties of recombinant K(AT...

Journal: :international journal of pediatrics 0
masoud dehghan tezerjani reproductive and genetic unit, yazd research and clinical center for infertility, shahid sadoughi university of medical sciences, yazd, iran mohammad yahya vahidi mehrjardi medical genetic research center, shahid sadoughi university of medical sciences, yazd, iran seyed mehdi kalantar reproductive and genetic unit, yazd research and clinical center for infertility, shahid sadoughi university of medical sciences, yazd, iran mohammadreza dehghani medical genetic research center, shahid sadoughi university of medical sciences, yazd, iran

neonatal diabetes mellitus (ndm) is a rare kind of diabetes characterized by hyperglycemia and low levels of insulin. clinically, it is categorized into two main types: transient ndm (tndm) and permanent ndm (pndm). these types are diagnosed based on duration of insulin dependence early in the disease. in tndm, diabetes begins in the first few weeks of life with remission in a few months. howev...

2011
Tsuyoshi Sekizuka Mari Matsui Kunikazu Yamane Fumihiko Takeuchi Makoto Ohnishi Akira Hishinuma Yoshichika Arakawa Makoto Kuroda

The complete sequence of the plasmid pNDM-1_Dok01 carrying New Delhi metallo-β-lactamase (NDM-1) was determined by whole genome shotgun sequencing using Escherichia coli strain NDM-1_Dok01 (multilocus sequence typing type: ST38) and the transconjugant E. coli DH10B. The plasmid is an IncA/C incompatibility type composed of 225 predicted coding sequences in 195.5 kb and partially shares a sequen...

2012
Simone Renner Christina Braun-Reichhart Andreas Blutke Nadja Herbach Daniela Emrich Elisabeth Streckel Annegret Wünsch Barbara Kessler Mayuko Kurome Andrea Bähr Nikolai Klymiuk Stefan Krebs Oliver Puk Hiroshi Nagashima Jochen Graw Helmut Blum Ruediger Wanke Eckhard Wolf

Mutations in the insulin (INS) gene may cause permanent neonatal diabetes mellitus (PNDM). Ins2 mutant mouse models provided important insights into the disease mechanisms of PNDM but have limitations for translational research. To establish a large animal model of PNDM, we generated INS transgenic pigs. A line expressing high levels of INS mRNA (70–86% of wild-type INS transcripts) exhibited e...

2013
Simone Renner Christina Braun-Reichhart Andreas Blutke Nadja Herbach Daniela Emrich Elisabeth Streckel Annegret Wünsch Barbara Kessler Mayuko Kurome Andrea Bähr Nikolai Klymiuk Stefan Krebs Oliver Puk Hiroshi Nagashima Jochen Graw Helmut Blum Ruediger Wanke Eckhard Wolf

Mutations in the insulin (INS) gene may cause permanent neonatal diabetes mellitus (PNDM). Ins2 mutant mouse models provided important insights into the disease mechanisms of PNDM but have limitations for translational research. To establish a large animal model of PNDM, we generated INS(C94Y) transgenic pigs. A line expressing high levels of INS(C94Y) mRNA (70-86% of wild-type INS transcripts)...

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