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https://www.readbyqxmd.com/read/28432734/monogenic-diabetes-syndromes-locus-specific-databases-for-alstr%C3%A3-m-wolfram-and-thiamine-responsive-megaloblastic-anaemia
#1
Dewi Astuti, Ataf Sabir, Piers Fulton, Malgorzata Zatyka, Denise Williams, Carol Hardy, Gabriella Milan, Francesca Favaretto, Patrick Yu-Wai-Man, Julia Rohayem, Miguel López de Heredia, Tamara Hershey, Lisbeth Tranebjaerg, Jian-Hua Chen, Annabel Chaussenot, Virginia Nunes, Bess Marshall, Susan McAfferty, Vallo Tillmann, Pietro Maffei, Veronique Paquis-Flucklinger, Tarekign Geberhiwot, Wojciech Mlynarski, Kay Parkinson, Virginie Picard, Gema Esteban Bueno, Renuka Dias, Amy Arnold, Caitlin Richens, Richard Paisey, Fumi Urano, Robert Semple, Richard Sinnott, Timothy G Barrett
We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (n = 268), and SLC19A2 (n = 48) for Wolfram type 1, Wolfram type 2, Alström and Thiamine-responsive megaloblastic anaemia syndromes respectively; and included 23 previously unpublished novel germline variants in WFS1 and 17 variants in ALMS1...
April 21, 2017: Human Mutation
https://www.readbyqxmd.com/read/28424732/evidence-for-loss-in-identity-de-differentiation-and-trans-differentiation-of-islet-%C3%AE-cells-in-type-2-diabetes
#2
REVIEW
Chad S Hunter, Roland W Stein
The two main types of diabetes mellitus have distinct etiologies, yet a similar outcome: loss of islet β-cell function that is solely responsible for the secretion of the insulin hormone to reduce elevated plasma glucose toward euglycemic levels. Type 1 diabetes (T1D) has traditionally been characterized by autoimmune-mediated β-cell death leading to insulin-dependence, whereas type 2 diabetes (T2D) has hallmarks of peripheral insulin resistance, β-cell dysfunction, and cell death. However, a growing body of evidence suggests that, especially during T2D, key components of β-cell failure involves: (1) loss of cell identity, specifically proteins associated with mature cell function (e...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28418115/aggravation-of-diabetes-and-incompletely-deficient-insulin-secretion-in-a-case-with-type-1-diabetes-resistant-hla-drb1-15-02-treated-with-nivolumab
#3
Kimio Matsumura, Kaoru Nagasawa, Yoichi Oshima, Shouta Kikuno, Kyohei Hayashi, Akihiro Nishimura, Minoru Okubo, Hironori Uruga, Kazuma Kishi, Tetsuro Kobayashi, Yasumichi Mori
Anti-programmed cell death-1 (PD-1) antibody therapy induces various adverse effects especially in endocrine systems. Several cases of acute onset insulin-dependent diabetes after anti-PD-1 antibody therapy have been reported. Many of these cases have a susceptible HLA genotype for type 1 diabetes possibly suggesting that human leukocyte antigen (HLA) might be involved in the onset of diabetes with anti PD-1 therapy. We describe an atypical case of hyperglycemia after anti PD-1 antibody administration. A 68-year-old Japanese man with pancreatic diabetes and steroid diabetes was administered nivolumab three times for chemoresistant adenocarcinoma of the lung...
April 18, 2017: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/28410399/altered-glucose-metabolism-and-hypoxic-response-in-alloxan-induced-diabetic-atherosclerosis-in-rabbits
#4
Yunosuke Matsuura, Atsushi Yamashita, Yan Zhao, Takashi Iwakiri, Kazuaki Yamasaki, Chihiro Sugita, Chihiro Koshimoto, Kazuo Kitamura, Keiichi Kawai, Nagara Tamaki, Songji Zhao, Yuji Kuge, Yujiro Asada
Diabetes mellitus accelerates atherosclerosis that causes most cardiovascular events. Several metabolic pathways are considered to contribute to the development of atherosclerosis, but comprehensive metabolic alterations to atherosclerotic arterial cells remain unknown. The present study investigated metabolic changes and their relationship to vascular histopathological changes in the atherosclerotic arteries of rabbits with alloxan-induced diabetes. Diabetic atherosclerosis was induced in rabbit ilio-femoral arteries by injecting alloxan (100 mg/kg), injuring the arteries using a balloon, and feeding with a 0...
2017: PloS One
https://www.readbyqxmd.com/read/28404521/diabetic-complications-in-the-cornea
#5
Alexander V Ljubimov
Diabetic corneal alterations, such as delayed epithelial wound healing, edema, recurrent erosions, neuropathy/loss of sensitivity, and tear film changes are frequent but underdiagnosed complications of both type 1 (insulin-dependent) and type 2 (non-insulin-dependent) diabetes mellitus. The disease affects corneal epithelium, corneal nerves, tear film, and to a lesser extent, endothelium, and also conjunctiva. These abnormalities may appear or become exacerbated following trauma, as well as various surgeries including retinal, cataract or refractive...
April 9, 2017: Vision Research
https://www.readbyqxmd.com/read/28396662/the-role-of-dendritic-cell-maturation-in-the-induction-of-insulin-dependent-diabetes-mellitus
#6
REVIEW
Jacques C Mbongue, Hector A Nieves, Timothy W Torrez, William H R Langridge
Dendritic cells (DCs) are the dominant class of antigen-presenting cells in humans and are largely responsible for the initiation and guidance of innate and adaptive immune responses involved in maintenance of immunological homeostasis. Immature dendritic cells (iDCs) phagocytize pathogens and toxic proteins and in endosomal vesicles degrade them into small fragments for presentation on major histocompatibility complex (MHC) II receptor molecules to naïve cognate T cells (Th0). In addition to their role in stimulation of immunity, DCs are involved in the induction and maintenance of immune tolerance toward self-antigens...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28395029/mitochondrial-and-morphologic-alterations-in-native-human-corneal-endothelial-cells-associated-with-diabetes-mellitus
#7
Benjamin T Aldrich, Ursula Schlötzer-Schrehardt, Jessica M Skeie, Kimberlee A Burckart, Gregory A Schmidt, Cynthia R Reed, M Bridget Zimmerman, Friedrich E Kruse, Mark A Greiner
Purpose: To characterize changes in the energy-producing metabolic activity and morphologic ultrastructure of corneal endothelial cells associated with diabetes mellitus. Methods: Transplant suitable corneoscleral tissue was obtained from donors aged 50 to 75 years. We assayed 3-mm punches of endothelium-Descemet membrane for mitochondrial respiration and glycolysis activity using extracellular flux analysis of oxygen and pH, respectively. Transmission electron microscopy was used to assess qualitative and quantitative ultrastructural changes in corneal endothelial cells and associated Descemet membrane...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28381504/insulin-receptor-substrate-signaling-controls-cardiac-energy-metabolism-and-heart-failure
#8
Cathy A Guo, Shaodong Guo
The heart is an insulin-dependent and energy consuming organ in which insulin and nutritional signaling integrates to the regulation of cardiac metabolism, growth, and survival. Heart failure is highly associated with insulin resistance and heart failure patients suffer from the cardiac energy deficiency, structural and functional dysfunction. Chronic pathological conditions, such as obesity and type 2 diabetes mellitus, involve various mechanisms in promoting heart failure by remodeling metabolic pathways, modulating cardiac energetics, and impairing cardiac contractility...
April 5, 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28366299/unplanned-return-to-operating-room-after-lower-extremity-endovascular-intervention-is-an-independent-predictor-for-hospital-readmission
#9
Tarik Z Ali, Erik B Lehman, Faisal Aziz
OBJECTIVE: Hospital readmissions after surgical operations are preventable and are now counted as a quality metric. Patients with peripheral arterial disease often have several serious medical comorbidities. With advancements in endovascular technology and increasing comfort level of vascular surgeons, more and more patients with peripheral arterial disease are being treated with endovascular therapy. Most of these interventions are done as same-day operations. This study retrospectively reviewed the factors associated with hospital readmission after lower extremity endovascular interventions...
March 30, 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/28366078/-the-myo-inositol-is-beneficial-in-the-therapy-of-pregnancy-with-insulin-dependent-type-2-diabetes-and-polycystic-ovary-syndrome
#10
Attila Kun, János Tornóczky
Authors would like to demonstrate the beneficial effect of myo-inositol supplementation in a pregnant woman with insulin-dependent type 2 diabetes mellitus and polycystic ovary syndrome. Insulin and metformin treatment could not achieve normalization of glucose homeostasis for 3 years, and hypoglycemic episodes were frequent. Myo-inositol and folic acid supplementation added to the basic treatment resulted in improved glucose levels in 2 months. At this time she became pregnant. During pregnancy serum glucose levels still improved in the next 2 months...
April 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/28360945/epigenetic-signatures-of-gestational-diabetes-mellitus-on-cord-blood-methylation
#11
Larissa Haertle, Nady El Hajj, Marcus Dittrich, Tobias Müller, Indrajit Nanda, Harald Lehnen, Thomas Haaf
BACKGROUND: Intrauterine exposure to gestational diabetes mellitus (GDM) confers a lifelong increased risk for metabolic and other complex disorders to the offspring. GDM-induced epigenetic modifications modulating gene regulation and persisting into later life are generally assumed to mediate these elevated disease susceptibilities. To identify candidate genes for fetal programming, we compared genome-wide methylation patterns of fetal cord bloods (FCBs) from GDM and control pregnancies...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28342278/simultaneous-pancreas-and-kidney-transplantation-incidence-and-risk-factors-for-amputation-after-10-years-follow-up
#12
E MacCraith, N F Davis, C Browne, P Mohan, D Hickey
INTRODUCTION: The incidence of amputation after simultaneous pancreas and kidney (SPK) transplantation ranges from 9.5-23% after 5 years of follow-up. The objective of this study was to investigate the incidence and risk factors for amputation in SPK transplant patients after a minimum follow-up of 10 years. METHODS: An analysis was performed on a prospectively maintained database of 81 SPK transplants and 43 kidney transplantation alone (KTA) consecutively performed in one centre for insulin dependent diabetes mellitus between December 1992 and January 2006...
March 25, 2017: Clinical Transplantation
https://www.readbyqxmd.com/read/28341445/insulin-promotes-cell-migration-by-regulating-psa-ncam
#13
Hector J Monzo, Natacha Coppieters, Thomas I H Park, Birger V Dieriks, Richard L M Faull, Mike Dragunow, Maurice A Curtis
Cellular interactions with the extracellular environment are modulated by cell surface polysialic acid (PSA) carried by the neural cell adhesion molecule (NCAM). PSA-NCAM is involved in cellular processes such as differentiation, plasticity, and migration, and is elevated in Alzheimer's disease as well as in metastatic tumour cells. Our previous work demonstrated that insulin enhances the abundance of cell surface PSA by inhibiting PSA-NCAM endocytosis. In the present study we have identified a mechanism for insulin-dependent inhibition of PSA-NCAM turnover affecting cell migration...
March 21, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/28331415/structure-of-resilience-among-japanese-adult-patients-with-type-1-diabetes-a-qualitative-study
#14
Ikuko Nishio, Masami Chujo
BACKGROUND: Resilience is the process of overcoming adversities and difficulties. We clarified the structure of resilience and its motivational power among adult Japanese patients with type 1 diabetes. This is likely to help ensure effective nursing support to empower patients with diabetes and help them recuperate and improve their personal lives. METHODS: Participants were 17 patients with type 1 diabetes, and data were collected using semi-structured interviews...
March 2017: Yonago Acta Medica
https://www.readbyqxmd.com/read/28317311/novel-pathogenic-variants-in-foxp3-in-fetuses-with-echogenic-bowel-and-skin-desquamation-identified-by-ultrasound
#15
Raymond J Louie, Queenie K-G Tan, Jennifer B Gilner, R Curtis Rogers, Noelle Younge, Stephanie B Wechsler, Marie T McDonald, Barbara Gordon, Christopher A Saski, Julie R Jones, Shelley J Chapman, Roger E Stevenson, John W Sleasman, Michael J Friez
Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome is a rare, X-linked recessive disease that affects regulatory T cells (Tregs) resulting in diarrhea, enteropathy, eczema, and insulin-dependent diabetes mellitus. IPEX syndrome is caused by pathogenic alterations in FOXP3 located at Xp11.23. FOXP3 encodes a transcription factor that interacts with several partners, including NFAT and NF-κB, and is necessary for the proper cellular differentiation of Tregs. Although variable, the vast majority of IPEX syndrome patients have onset of disease during infancy with severe enteropathy...
March 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28306601/assessing-the-impact-of-diabetes-mellitus-on-donor-corneal-endothelial-cell-density
#16
Chase A Liaboe, Benjamin T Aldrich, Pamela C Carter, Jessica M Skeie, Kimberlee A Burckart, Gregory A Schmidt, Cynthia R Reed, M Bridget Zimmerman, Mark A Greiner
PURPOSE: To quantify changes in endothelial cell density (ECD) of donor corneal tissue in relation to the presence or absence of a medical history of diabetes mellitus diagnosis, treatment, and complications. METHODS: A retrospective review was performed for all corneas collected at Iowa Lions Eye Bank between January 2012 and December 2015. For purposes of analysis, donor corneas were divided into 4 groups: nondiabetic, non-insulin-dependent diabetic, insulin-dependent diabetic without medical complications due to diabetes, and insulin-dependent diabetic with medical complications due to diabetes...
May 2017: Cornea
https://www.readbyqxmd.com/read/28302466/bioflow-iii-satellite-one-year-clinical-outcomes-of-diabetic-patients-treated-with-a-biodegradable-polymer-sirolimus-eluting-stent-and-comprehensive-medical-surveillance
#17
Ran Kornowski, Ariel Roguin, Haim Danenberg, Hana Vaknin Assa, Eitan Abergel, Eliezer Rozenbaum, Victor Guetta, Uri Landes, Refat Jabara, Amnon Merdler, Amit Segev, Morris Mosseri, Abid Assali
BACKGROUND: Drug-eluting stents with biodegradable polymer might be particularly useful in diabetic patients who are at increased risk for target lesion/target vessel revascularization. We therefore aimed at assessing the safety and performance of a biodegradable polymer sirolimus-eluting stent (BP-SES) in combination with comprehensive optimal medical therapy following coronary interventions. METHODS: This prospective, multicenter registry was conducted at six centers in Israel...
February 21, 2017: Cardiovascular Revascularization Medicine: Including Molecular Interventions
https://www.readbyqxmd.com/read/28294310/longitudinal-analysis-of-quality-of-diabetes-care-and-relational-climate-in-primary-care
#18
Marina Soley-Bori, Justin K Benzer, James F Burgess
OBJECTIVE: To assess the influence of relational climate on quality of diabetes care. DATA SOURCES/STUDY SETTING: The study was conducted at the Department of Veterans Affairs (VA). The VA All Employee Survey (AES) was used to measure relational climate. Patient and facility characteristics were gathered from VA administrative datasets. STUDY DESIGN: Multilevel panel data (2008-2012) with patients nested into clinics. DATA COLLECTION/EXTRACTION METHODS: Diabetic patients were identified using ICD-9 codes and assigned to the clinic with the highest frequency of primary care visits...
March 10, 2017: Health Services Research
https://www.readbyqxmd.com/read/28285191/polychlorinated-biphenyls-153-induces-metabolic-dysfunction-through-activation-of-ros-nf-%C3%AE%C2%BAb-signaling-via-downregulation-of-hnf1b
#19
Hao Wu, Weihua Yu, Fansen Meng, Jie Mi, Jie Peng, Jiangzheng Liu, Xiaodi Zhang, Chunxu Hai, Xin Wang
Polychlorinated biphenyls (PCB) is a major type of persistent organic pollutants (POPs) that act as endocrine-disrupting chemicals. In the current study, we examined the mechanism underlying the effect of PCB-153 on glucose and lipid metabolism in vivo and in vitro. We found that PCB-153 induced per se and worsened high fat diet (HFD)-resulted increase of blood glucose level and glucose and insulin intolerance. In addition, PCB-153 induced per se and worsened HFD-resulted increase of triglyceride content and adipose mass...
March 7, 2017: Redox Biology
https://www.readbyqxmd.com/read/28283275/kidney-involvement-in-melas-syndrome-description-of-2-cases
#20
Pau Alcubilla-Prats, Manel Solé, Albert Botey, Josep Maria Grau, Glòria Garrabou, Esteban Poch
INTRODUCTION: MELAS syndrome -myopathy, encephalopathy, lactic acidosis and stroke-like episodes- is a maternally-inherited mitochondrial cytopathy related to several mitochondrial DNA mutations, with the A3243G mutation in tRNA(Leu) gene being the most frequent of them. PATIENTS AND METHODS: Apart from its typical symptomatology, patients usually exhibit a maternally-inherited history of neurosensory deafness and insulin-dependent type 2 diabetes mellitus (T2DM)...
April 21, 2017: Medicina Clínica
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