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MODY type diabetes

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https://www.readbyqxmd.com/read/29666556/maturity-onset-diabetes-of-the-young-due-to-hnf1a-variants-in-croatia
#1
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
#2
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...
April 16, 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
#3
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
#4
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
#5
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
#6
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...
March 14, 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
#7
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/-p-better-diabetes-diagnoses-in-sweden-p
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/29412996/probing-the-protein-protein-interaction-network-of-proteins-causing-maturity-onset-diabetes-of-the-young
#14
P Sneha, D Thirumal Kumar, Jose Lijo, M Megha, R Siva, C George Priya Doss
Protein-protein interactions (PPIs) play vital roles in various cellular pathways. Most of the proteins perform their responsibilities by interacting with an enormous number of proteins. Understanding these interactions of the proteins and their interacting partners has shed light toward the field of drug discovery. Also, PPIs enable us to understand the functions of a protein by understanding their interacting partners. Consequently, in the current study, PPI network of the proteins causing MODY (Maturity Onset Diabetes of the Young) was drawn, and their correlation in causing a disease condition was marked...
2018: Advances in Protein Chemistry and Structural Biology
https://www.readbyqxmd.com/read/29406598/maturity-onset-diabetes-of-the-young-mody-as-a-model-for-elucidating-the-multifactorial-origin-of-type-2-diabetes-mellitus
#15
REVIEW
Yukio Horikawa
Maturity-onset diabetes of the young (MODY) is a form of diabetes classically characterized as having autosomal dominant inheritance, onset before the age of 25 years in at least one family member and partly preserved pancreatic β cell function. The fourteen responsible genes are reported to be MODY1~14, of which MODY2 and 3 may be the most common forms. Although MODY is currently classified as diabetes of a single gene defect, it has become clear that mutations in rare MODYs, such as MODY5 and MODY6, have small mutagenic effects and low penetrance...
February 6, 2018: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/29382633/prediction-of-incident-hypertension-within-the-next-year-prospective-study-using-statewide-electronic-health-records-and-machine-learning
#16
Chengyin Ye, Tianyun Fu, Shiying Hao, Yan Zhang, Oliver Wang, Bo Jin, Minjie Xia, Modi Liu, Xin Zhou, Qian Wu, Yanting Guo, Chunqing Zhu, Yu-Ming Li, Devore S Culver, Shaun T Alfreds, Frank Stearns, Karl G Sylvester, Eric Widen, Doff McElhinney, Xuefeng Ling
BACKGROUND: As a high-prevalence health condition, hypertension is clinically costly, difficult to manage, and often leads to severe and life-threatening diseases such as cardiovascular disease (CVD) and stroke. OBJECTIVE: The aim of this study was to develop and validate prospectively a risk prediction model of incident essential hypertension within the following year. METHODS: Data from individual patient electronic health records (EHRs) were extracted from the Maine Health Information Exchange network...
January 30, 2018: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/29247329/understanding-childhood-diabetes-mellitus-new-pathophysiological-aspects
#17
REVIEW
Juergen Grulich-Henn, Daniela Klose
Diabetes mellitus (DM) is not a single disease, but several pathophysiological conditions where synthesis, release, and/or action of insulin are disturbed. A progressive autoimmune/autoinflammatory destruction of islet cells is still considered the main pathophysiological event in the development of T1DM, but there is evidence that T1DM itself is a heterogeneous disease. More than 50 gene regions are closely associated with T1DM and a variety of epigenetic factors and metabolic patterns have been characterized, which may play a role in the development of T1DM...
January 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29242624/plant-derived-compounds-strigolactone-gr24-and-pinosylvin-activate-sirt1-and-enhance-glucose-uptake-in-rat-skeletal-muscle-cells
#18
Shalem Modi, Nagendra Yaluri, Tarja Kokkola, Markku Laakso
Insulin resistance is a characteristic finding in hyperglycaemia and type 2 diabetes. SIRT1 is a NAD+ dependent deacetylase that plays a central role in glucose homeostasis and energy metabolism. SIRT1 activators, including plant polyphenols such as resveratrol, improve insulin sensitivity in skeletal muscle tissue. We hypothesised that the novel plant-derived compounds, strigolactone and pinosylvin, beneficially enhance SIRT1 function, insulin signalling, glucose uptake, and mitochondrial biogenesis in skeletal muscle cells...
December 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29222740/a-case-of-maturity-onset-diabetes-of-the-young-mody3-in-a-family-with-a-novel-hnf1a-gene-mutation-in-five-generations
#19
A K Ovsyannikova, O D Rymar, D E Ivanoshchuk, Svetlana V Mikhailova, E V Shakhtshneider, P S Orlov, E S Malakhina, M I Voevoda
Diabetes mellitus with autosomal dominant inheritance, i.e., maturity-onset diabetes of the young (MODY), is a genetic form of diabetes mellitus. The MODY phenotype is associated with gene mutations leading to pancreatic β-cell dysfunction. Here, we present the clinical case of a 50-year-old proband with familial diabetes mellitus in five generations (proband, her mother, grandmother, great-grandfather, and son). This disease is most likely associated with the novel Ser6Arg mutation in the HNF1A gene, which was identified in four family members...
February 2018: Diabetes Therapy: Research, Treatment and Education of Diabetes and related Disorders
https://www.readbyqxmd.com/read/29207974/spectrum-of-mutations-in-monogenic-diabetes-genes-identified-from-high-throughput-dna-sequencing-of-6888-individuals
#20
Vikas Bansal, Johann Gassenhuber, Tierney Phillips, Glenn Oliveira, Rebecca Harbaugh, Nikki Villarasa, Eric J Topol, Thomas Seufferlein, Bernhard O Boehm
BACKGROUND: Diagnosis of monogenic as well as atypical forms of diabetes mellitus has important clinical implications for their specific diagnosis, prognosis, and targeted treatment. Single gene mutations that affect beta-cell function represent 1-2% of all cases of diabetes. However, phenotypic heterogeneity and lack of family history of diabetes can limit the diagnosis of monogenic forms of diabetes. Next-generation sequencing technologies provide an excellent opportunity to screen large numbers of individuals with a diagnosis of diabetes for mutations in disease-associated genes...
December 6, 2017: BMC Medicine
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