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https://www.readbyqxmd.com/read/29895593/the-common-hnf1a-variant-i27l-is-a-modifier-of-age-at-diabetes-diagnosis-in-hnf1a-mody-individuals
#1
Jonathan M Locke, Cécile Saint-Martin, Thomas W Laver, Kashyap A Patel, Andrew R Wood, Seth A Sharp, Sian Ellard, Christine Bellanné-Chantelot, Andrew T Hattersley, Lorna W Harries, Michael N Weedon
There is wide variation in the age at diagnosis of diabetes in individuals with Maturity-Onset Diabetes of the Young (MODY) due to a mutation in the HNF1A gene. We hypothesised that common variants at the HNF1A locus (rs1169288, I27L; rs1800574, A98V), which are associated with type 2 diabetes susceptibility, may modify age at diabetes diagnosis in HNF1A-MODY individuals. Meta-analysis of two independent cohorts, comprising 781 HNF1A-MODY individuals, found no significant associations between genotype and age at diagnosis...
June 12, 2018: Diabetes
https://www.readbyqxmd.com/read/29866643/assessing-statewide-all-cause-future-one-year-mortality-prospective-study-with-implications-for-quality-of-life-resource-utilization-and-medical-futility
#2
Yanting Guo, Gang Zheng, Tianyun Fu, Shiying Hao, Chengyin Ye, Le Zheng, Modi Liu, Minjie Xia, Bo Jin, Chunqing Zhu, Oliver Wang, Qian Wu, Devore S Culver, Shaun T Alfreds, Frank Stearns, Laura Kanov, Ajay Bhatia, Karl G Sylvester, Eric Widen, Doff B McElhinney, Xuefeng Bruce Ling
BACKGROUND: For many elderly patients, a disproportionate amount of health care resources and expenditures is spent during the last year of life, despite the discomfort and reduced quality of life associated with many aggressive medical approaches. However, few prognostic tools have focused on predicting all-cause 1-year mortality among elderly patients at a statewide level, an issue that has implications for improving quality of life while distributing scarce resources fairly. OBJECTIVE: Using data from a statewide elderly population (aged ≥65 years), we sought to prospectively validate an algorithm to identify patients at risk for dying in the next year for the purpose of minimizing decision uncertainty, improving quality of life, and reducing futile treatment...
June 4, 2018: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/29844095/mexican-carriers-of-the-hnf1a-p-e508k-variant-do-not-experience-an-enhanced-response-to-sulfonylureas
#3
Alexandro J Martagón, Omar Yaxmehen Bello-Chavolla, Olimpia Arellano-Campos, Paloma Almeda-Valdés, Geoffrey A Walford, Ivette Cruz-Bautista, Donají V Gómez-Velasco, Roopa Mehta, Liliana Muñoz-Hernández, Magdalena Sevilla-González, Tannia L Viveros-Ruiz, María Luisa Ordoñez-Sánchez, Rosario Rodríguez-Guillen, Jose C Florez, María Teresa Tusié-Luna, Carlos A Aguilar-Salinas
OBJECTIVE: To assess if an ethnic-specific variant (p.E508 K) in the maturity-onset diabetes of the young (MODY) gene hepatocyte nuclear factor-1α ( HNF1A ) found in Mexicans is associated with higher sensitivity to sulfonylureas, as documented in patients with MODY3. RESEARCH DESIGN AND METHODS: We recruited 96 participants (46 variant carriers and 50 age- and sex-matched noncarriers). Response to glipizide (one 2.5-5.0-mg dose), metformin (four 500-mg doses), and an oral glucose challenge was evaluated using a previously validated protocol...
May 29, 2018: Diabetes Care
https://www.readbyqxmd.com/read/29791171/-diagnosis-of-mody-brief-overview-for-clinical-practice
#4
Jana Urbanová, Ludmila Brunerová, Jan Brož
Maturity Onset Diabetes of the Young (MODY) comprises inherited forms of diabetes mellitus caused by the mutations in the genes involved in the development, differentiation and function of beta-cells. The majority of patients with MODY remains misdiagnosed and erroneously classified as type 1 or type 2 diabetic patients. Correct MODY diagnosis is, however, essential since it enables individualization of treatment, assessment of the prognosis and identification of diabetes among patient´s relatives. Clinical presentation of MODY is highly variable and it could resemble other types of diabetes, thus identification of MODY patients might be difficult...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29767246/dnajc3-mutation-in-thai-familial-type-2-diabetes-mellitus
#5
Sirikul Kulanuwat, Watip Tangjittipokin, Prapaporn Jungtrakoon, Chutima Chanprasert, Jatuporn Sujjitjoon, Ninareeman Binnima, Pa-Thai Yenchitsomanus, Nattachet Plengvidhya
Type 2 diabetes mellitus (T2D) is a heterogeneous disease, with certain cases presenting an autosomal dominant type. The rare coding variants of disease‑causing genes in T2D remain mostly unclear. The present study aimed to identify the disease‑causing gene conducting whole exome sequencing in a Thai T2D family with an autosomal dominant transmission of T2D with no evidence of mutations in known maturity‑onset diabetes of the young (MODY) genes. Candidate variants were selected according to certain criteria of mutation prediction programs, followed by segregation analysis with diabetes in the family...
May 14, 2018: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29764441/case-report-identification-of-an-hnf1b-p-arg527gln-mutation-in-a-maltese-patient-with-atypical-early-onset-diabetes-and-diabetic-nephropathy
#6
Nikolai Paul Pace, Johann Craus, Alex Felice, Josanne Vassallo
BACKGROUND: The diagnosis of atypical non-autoimmune forms of diabetes mellitus, such as maturity onset diabetes of the young (MODY) presents several challenges, in view of the extensive clinical and genetic heterogeneity of the disease. In this report we describe a case of atypical non autoimmune diabetes associated with a damaging HNF1β mutation. This is distinguished by a number of uncharacteristic clinical features, including early-onset obesity, the absence of renal cysts and diabetic nephropathy...
May 15, 2018: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/29692258/early-occurrence-cases-of-diabetes-mellitus-clinical-picture-in-two-major-tertiary-care-hospitals-in-india
#7
Nitin Joseph, Shreya Sharma, Vinisha Modi, Sanath Majunatha, Saad Arshad Siddiqui, Mihika Sinha
INTRODUCTION: Type 1 diabetes mellitus (T1D) is one of the most common endocrine disease in childhood. However, very limited information is available on this disease. OBJECTIVES: This study was done to assess risk factors, clinical features and management practices in T1D patients. METHODS: A review of records of 39 T1D cases admitted over the past five years in two hospitals was done. RESULTS: The mean age at diagnosis among males was 19...
April 24, 2018: Current Diabetes Reviews
https://www.readbyqxmd.com/read/29666556/maturity-onset-diabetes-of-the-young-due-to-hnf1a-variants-in-croatia
#8
Tamara Pavić, Agata Juszczak, Edita Pape Medvidović, Carla Burrows, Mario Šekerija, Amanda J Bennett, Jadranka Ćuća Knežević, Anna L Gloyn, Gordan Lauc, Mark I McCarthy, Olga Gornik, Katharine R Owen
Introduction: Maturity onset diabetes of the young due to HNF1A mutations (HNF1A-MODY) is the most frequent form of monogenic diabetes in adults. It is often misdiagnosed as type 1 or type 2 diabetes, but establishing genetic diagnosis is important, as treatment differs from the common types of diabetes. HNF1A-MODY has not been investigated in Croatia before due to limited access to genetic testing. In this study we aimed to describe the characteristics of young adults diagnosed with diabetes before the age of 45 years, who have rare HNF1A allele variants, and estimate the prevalence of HNF1A-MODY in Croatia...
June 15, 2018: Biochemia Medica: časopis Hrvatskoga Društva Medicinskih Biokemičara
https://www.readbyqxmd.com/read/29661026/patient-perceptions-of-injection-devices-used-with-dulaglutide-and-liraglutide-for-treatment-of-type-2-diabetes
#9
Louis S Matza, Kristina S Boye, Brooke M Currie, Rosirene Paczkowski, Laura F Lando, Reema Mody, Jessica Jordan
OBJECTIVE: Liraglutide and dulaglutide have demonstrated similar glycemic efficacy and safety. However, they differ in treatment administration and injection devices. The purpose of this study was to examine and compare patient perceptions of the injection devices used with liraglutide and dulaglutide. METHODS: Patients with type 2 diabetes treated with liraglutide or dulaglutide were recruited from across the US. Patients completed the Diabetes Injection Device Experience Questionnaire (DID-EQ) to rate their current injection device...
May 14, 2018: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/29606121/polymorphism-of-the-glis3-gene-in-a-caucasian-population-and-among-individuals-with-carbohydrate-metabolism-disorders-in-russia
#10
E V Shakhtshneider, S V Mikhailova, D E Ivanoshchuk, P S Orlov, A K Ovsyannikova, O D Rymar, Yu I Ragino, M I Voevoda
OBJECTIVE: Earlier, GLIS3 gene polymorphisms have been shown to be associated with the development of maturity onset diabetes of the young (MODY). We screened GLIS3 gene sequences among patients with MODY to identify probably pathogenic variants by whole-exome sequencing. We estimated frequency of rare single-nucleotide variants in the coding region of GLIS3 in a Caucasian population and among individuals with carbohydrate metabolism disorders in Russia. RESULTS: We identified 15 single-nucleotide variants in GLIS3...
April 2, 2018: BMC Research Notes
https://www.readbyqxmd.com/read/29597128/generation-of-an-induced-pluripotent-stem-cell-ipsc-line-from-a-patient-with-maturity-onset-diabetes-of-the-young-type-3-mody3-carrying-a-hepatocyte-nuclear-factor-1-alpha-hnf1a-mutation
#11
Frank Griscelli, Hélène Ezanno, Mathis Soubeyrand, Olivier Feraud, Noufissa Oudrhiri, Amélie Bonnefond, Ali G Turhan, Philippe Froguel, Annelise Bennaceur-Griscelli
Heterozygous non-synonymous (p.S142F) mutation in HNF1A leads to maturity-onset diabetes of the young (MODY) type 3, which is a subtype of dominant inherited young-onset non-autoimmune diabetes due to the defect of insulin secretion from pancreatic beta cells. We generated induced pluripotent stem cells (iPSCs) from a patient with HNF1A p.S142F mutation. Cells from this patient, which were reprogrammed by non-integrative viral transduction had normal karyotype, harboured the HNF1A p.S142F mutation, expressed pluripotency hallmarks...
March 7, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29574432/primary-male-factor-infertility-due-to-asthenospermia-in-maturity-onset-diabetes-of-the-young-type-5-mody-5-uncommon-presentation-of-an-uncommon-disease
#12
Partha Pratim Chakraborty, Shinjan Patra, Sugata Narayan Biswas, Himanshu Barman
Mutations in hepatocyte nuclear factor-1β gene result in a multisystemic syndrome where a monogenic form of diabetes (maturity-onset diabetes of young type 5; MODY 5) and renal anomalies, usually bilateral multiple cysts are the most characteristic findings. Many of them have pancreatic structural abnormalities as well. A plethora of extrapancreatic manifestations like altered liver function tests, hypomagnesaemia, hyperuricaemia with/without gout and urogenital malformations, particularly in females are also components of the syndrome...
March 23, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29550483/strigolactone-gr24-and-pinosylvin-attenuate-adipogenesis-and-inflammation-of-white-adipocytes
#13
Shalem Modi, Nagendra Yaluri, Tarja Kokkola
Obesity is characterized by excess fat accumulation in white adipose tissue, which triggers chronic low-grade inflammation through secretion of pro-inflammatory factors by the enlarged adipocytes and infiltrated macrophages. This affects glucose and lipid metabolism in adipose tissue, inducing type 2 diabetes. NAD+ -dependent deacetylase SIRT1 is known to inhibit adipogenesis through the regulation of the key adipogenic transcription factors, PPARγ and C/EBPα. SIRT1 activators such as resveratrol inhibit adipogenesis and exert anti-inflammatory responses in the adipose tissue...
May 5, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29525113/unilateral-renal-agenesis-and-abrupt-onset-diabetes-an-unfrequent-form-of-mody-type-diabetes
#14
María Del Mar Roca-Rodríguez, María Carmen Ayala-Ortega, Ana Isabel Jiménez-Millán, María Concepción García Calzado, María Soledad Ruiz de Adana, Florentino Carral-San Laureano
INTRODUCTION: MODY diabetes encompasses heterogeneous group of monogenic forms of diabetes with low prevalence. It is not easily diagnosed because of the increase in obesity and family history of diabetes in the general population. PATIENTS AND METHODS: We present a clinical case with cardinal symptoms, diabetes,renal insufficiency with no acidosis and with a family history of diabetes and renal agenesis. RESULTS: Distinguishing MODY diabetes from DM1 and DM2 is very important to ensure optimal treatment, and because the risk of complications depends on each genetic defect...
March 7, 2018: Medicina Clínica
https://www.readbyqxmd.com/read/29509210/better-diabetes-diagnoses-in-sweden
#15
Claude Marcus
The Swedish study Better Diabetes Diagnosis (BDD) has now been ongoing for ten years and detailed information and blood samples have been collected from more than 8000 children and adolescents with newly diagnosed diabetes. We have been able to demonstrate that by means of HLA diabetes antibodies and C-peptide the discrimination between type one and type 2 diabetes is improved. These analyses are therefore included in the clinical check-up for all children and adolescents in Sweden who are diagnosed with diabetes...
March 6, 2018: Läkartidningen
https://www.readbyqxmd.com/read/29491316/a-novel-p-l145q-mutation-in-the-hnf1b-gene-in-a-case-of-maturity-onset-diabetes-of-the-young-type-5-mody5
#16
Tomoko Kato, Daisuke Tanaka, Seiji Muro, Byambatseren Jambaljav, Eisaku Mori, Shin Yonemitsu, Shogo Oki, Nobuya Inagaki
Maturity-onset diabetes of the young (MODY) is an autosomal dominant form of early onset diabetes. The hepatocyte nuclear factor-1-beta (HNF1B) gene is responsible for MODY type 5 (MODY5) with distinctive clinical features, including pancreatic atrophy and renal disease. We herein report a Japanese case of young-onset diabetes with typical phenotypes of MODY5 and a novel heterozygous missense mutation (p.L145Q) in the HNF1B gene. The mutation was located in the POU-specific domain, and the amino acid residue L145 was highly conserved among species...
February 28, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29473506/maturity-onset-diabetes-of-the-young-an-overview-with-focus-on-the-middle-east
#17
J Taneera, B Mussa, M Saber-Ayad, S Dhaiban, H Aljaibeji, N Sulaiman
Today, there are more than 32 million patients with diabetes in the Middle East (ME), the number is expected to double by 2040. In contrast to Europe and North America and despite the high prevalence of diabetes in ME, epidemiological data about incident and types of diabetes in the region is very limited. Maturity-onset diabetes of the young (MODY) is a subtype of monogenic diabetes representing 2-5% of all diabetes patients. The disease is autosomal dominant mode of inheritance characterized by β-cell malfunction below the age of 35 years...
2017: Current Molecular Medicine
https://www.readbyqxmd.com/read/29450745/clinical-management-of-women-with-monogenic-diabetes-during-pregnancy
#18
REVIEW
Laura T Dickens, Rochelle N Naylor
PURPOSE OF REVIEW: Monogenic diabetes accounts for 1-2% of all diabetes cases, but is frequently misdiagnosed as type 1, type 2, or gestational diabetes. Accurate genetic diagnosis directs management, such as no pharmacologic treatment for GCK-MODY, low-dose sulfonylureas for HNF1A-MODY and HNF4A-MODY, and high-dose sulfonylureas for KATP channel-related diabetes. While diabetes treatment is defined for the most common causes of monogenic diabetes, pregnancy poses a challenge to management...
February 15, 2018: Current Diabetes Reports
https://www.readbyqxmd.com/read/29424957/hnf1a-variant-energy-reduced-diets-and-insulin-resistance-improvement-during-weight-loss-the-pounds-lost-trial-and-direct
#19
Tao Huang, Tiange Wang, Yoriko Heianza, Dianjianyi Sun, Kerry Ivey, Ronen Durst, Dan Schwarzfuchs, Meir J Stampfer, George A Bray, Frank M Sacks, Iris Shai, Lu Qi
AIM: To determine whether weight-loss diets varying in macronutrients modulate the genetic effect of hepatocyte nuclear factor 1α (HNF1A) rs7957197 on weight loss and improvement of insulin resistance. MATERIALS AND METHODS: We analysed the interaction between HNF1A rs7957197 and weight-loss diets with regard to weight loss and insulin resistance improvement among 722 overweight/obese adults from a 2-year randomized weight-loss trial, the POUNDS Lost trial. The findings were replicated in another independent 2-year weight-loss trial, the Dietary Intervention Randomized Controlled Trial (DIRECT), in 280 overweight/obese adults...
February 9, 2018: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/29424410/-diabetes-mellitus-caused-by-a-mutation-of-glucokinase-gene-report-of-an-affected-family
#20
Felipe Pollak C, Marcela Lagos L, José L Santos M, Helena Poggi, Abraham Urzúa C, Hana Rumié C
Maturity-Onset Diabetes of the Young (MODY) refers to a heterogeneous group of monogenic diabetes. Unlike other types of MODY characterized by genetic defects in transcription factors, MODY 2 is triggered by metabolic alterations caused by mutations of glucokinase (GCK), the first enzyme of the glycolytic pathway. We report a three-generation Chilean family with multiple cases affected with this disease. The index case is a patient who presented severe neonatal hyperglycemia (831 mg/dl, without ketosis) requiring continuous infusion of insulin, which was suspended after 48 hours with normalization of blood glucose...
September 2017: Revista Médica de Chile
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