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https://www.readbyqxmd.com/read/29450745/clinical-management-of-women-with-monogenic-diabetes-during-pregnancy
#1
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 K ATP 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-and-direct-trials
#2
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
BACKGROUND: The majority of patients with maturity-onset diabetes of the young (MODY) has mutations in the hepatocyte nuclear factor 1α (HNF1A) gene. A common variant rs7957197 at HNF1A locus for type 2 diabetes was identified. Dietary macronutrients regulate the HNF1A gene expression. OBJECTIVE: We aimed to determine whether weight loss diets varying in macronutrients modulate the genetic effect of HNF1A rs7957197 on weight loss and improvement of insulin resistance...
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
#3
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
#4
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
#5
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
#6
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
#7
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...
December 15, 2017: 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
#8
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
#9
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...
December 8, 2017: 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
#10
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
https://www.readbyqxmd.com/read/29196084/characteristics-associated-with-the-choice-of-first-injectable-therapy-among-us-patients-with-type-2-diabetes
#11
Maria Yu, Reema Mody, Laura Fernández Landó, Amy Shui, Lee Kallenbach, Lukas Slipski, Carolina Piras de Oliveira
PURPOSE: The objective of this retrospective observational study was to describe and identify clinical and demographic characteristics associated with the choice of first injectable therapy (glucagon-like peptide-1 receptor agonist [GLP-1-RA] or basal insulin) among patients with type 2 diabetes mellitus (T2DM). METHODS: This analysis included adults naive to injectable therapy with T2DM who initiated a GLP-1-RA or basal insulin (index date) between November 2014 and February 2016 using data from the Practice Fusion Electronic Health Record database...
December 2017: Clinical Therapeutics
https://www.readbyqxmd.com/read/29183106/monogenic-diabetes-not-caused-by-mutations-in-mody-genes-a-very-heterogenous-group-of-diabetes
#12
Zeynep Şıklar, Elisa de Franco, Matthew B Johnson, Sarah E Flanagan, Sian Ellard, Serdar Ceylaner, Kaan Boztuğ, Figen Doğu, Aydan İkincioğulları, Zarife Kuloğlu, Aydan Kansu, Merih Berberoğlu
Monogenic diabetes represents a heterogeneous group of disorders resulting from a single gene defect leading to disruption of insulin secretion or a reduction in the number of beta cells. Despite the classification of monogenic diabetes into neonatal diabetes or maturity onset diabetes of the young (MODY) according to age of onset, not every case can be classified into those 2 groups. We evaluated patients with monogenic diabetes diagnosed during the last 10 year period. Type 1 DM, MODY, and patients with negative autoantibodies and no mutation in a known gene were excluded from the study...
November 28, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/29182332/quantitative-evaluation-of-serum-proteins-uncovers-a-protein-signature-related-with-maturity-onset-diabetes-of-the-young-mody
#13
Muhadasi Tuerxunyiming, Feng Xian, Jin Zi, Yilihamujiang Yimamu, Reshalaiti Abuduwayite, Yan Ren, Qidan Li, Abulizi Abudula, SiQi Liu, Patamu Mohemaiti
Maturity-onset diabetes of the young (MODY) is an inherited monogenic type of diabetes. Genetic mutations in MODY often cause nonsynonymous changes that directly lead to the functional distortion of proteins and the pathological consequences. Herein, we proposed that the inherited mutations found in a MODY family could cause a disturbance of protein abundance, specifically in serum. The serum samples were collected from a Uyghur MODY family through three generations, and the serum proteins after depletion treatment were examined by quantitative proteomics to characterize the MODY-related serum proteins followed by verification using target quantification of proteomics...
November 28, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/29175806/the-distribution-of-different-types-of-diabetes-in-childhood-a-single-center-experience
#14
Belma Haliloğlu, Saygın Abali, Fuat Buğrul, Enes Çelik, Serpil Baş, Zeynep Atay, Tülay Güran, Serap Turan, Abdullah Bereket
OBJECTIVE: Type 1 diabetes (T1D) is the most common cause of diabetes in childhood but type 2 diabetes (T2D) and maturity onset diabetes of the young (MODY) are emerging and noteworthy causes of diabetes in youths. The aim of the study is to determine the distribution, trends and clinical features of the different types of diabetes in childhood in a tertiary single-center. METHODS: Children and adolescents aged 0-18 years who were diagnosed "diabetes/persistent hyperglycemia" between January 1999 and December 2016, were reviewed...
November 24, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29163993/21-year-old-pregnant-woman-with-mody-5-diabetes
#15
Anastasia Mikuscheva, Elliot McKenzie, Adel Mekhail
The term "Maturity-Onset Diabetes of the Young" (MODY) was first described in 1976 and is currently referred to as monogenic diabetes. There are 14 known entities accounting for 1-2% of diabetes and they are frequently misdiagnosed as either type 1 or type 2 diabetes. MODY-5 is an entity of monogenic diabetes that is associated with genitourinary malformations and should be considered by obstetricians in pregnant women with a screen positive for diabetes, genitourinary malformations, and fetal renal anomalies...
2017: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29117624/the-role-of-lipids-in-the-pathogenesis-of-metabolic-syndrome-in-adolescents
#16
Shahnaz Taghizadeh, Mohammad Alizadeh
The increasing prevalence of childhood obesity is a driving force behind the increase in adolescent's metabolic syndrome (MetS). Although there is no clear consensus about the pediatric definition for MetS, this syndrome is becoming very common among adolescents. It is characterized by insulin resistance (IR), dyslipidemia, abdominal obesity and hypertension, and is associated with a high risk of type 2 diabetes mellitus and CVD in adulthood. Due to the increasing prevalence of obesity, there is strong incentive to reduce the impact of the adverse health effects associated with MetS...
January 2018: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/29109103/hepatocyte-nuclear-factor-1a-deficiency-causes-hemolytic-anemia-in-mice-by-altering-erythrocyte-sphingolipid-homeostasis
#17
Karin von Wnuck Lipinski, Sarah Weske, Petra Keul, Susann Peters, Hideo A Baba, Gerd Heusch, Markus H Gräler, Bodo Levkau
The Hepatocyte Nuclear Factor (HNF) family regulates complex networks of metabolism and organ development. Human mutations in its prototypical member HNF1A cause maturity-onset of diabetes of the young (MODY) type 3. In this study, we identified an important role for HNF1A in the preservation of erythrocyte membrane integrity, calcium homeostasis and osmotic resistance through a yet unrecognized link of HNF1A to sphingolipid homeostasis. HNF1A(-/-) mice displayed microcytic hypochromic anemia with reticulocytosis that was partially compensated by avid extramedullary erythropoiesis at all erythroid stages in the spleen thereby excluding erythroid differentiation defects...
November 6, 2017: Blood
https://www.readbyqxmd.com/read/29107759/the-unique-clinical-spectrum-of-maturity-onset-diabetes-of-the-young-type-3
#18
Yael Lebenthal, Naama Fisch Shvalb, Yael Gozlan, Ariel Tenenbaum, Yardena Tenenbaum-Rakover, Emmanuel Vaillant, Phillipe Froguel, Martine Vaxillaire, Galia Gat-Yablonski
Phenotypic variability in maturity-onset diabetes of the young (MODY) makes screening criteria for genomic analysis challenging. We describe the clinical spectrum in a large pedigree with HNF1A-MODY; as generations progressed, the course and outcome became poorer. Although uncommon, pancreatic autoantibodies and diabetes ketoacidosis should not exclude the diagnosis of MODY.
October 28, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/29056535/analysis-of-the-gck-gene-in-79-mody-type-2-patients-a-multicenter-turkish-study-mutation-profile-and-description-of-twenty-novel-mutations
#19
Ayça Aykut, Emin Karaca, Hüseyin Onay, Damla Gökşen, Şevki Çetinkalp, Erdal Eren, Betül Ersoy, Esra Papatya Çakır, Muammer Büyükinan, Cengiz Kara, Ahmet Anık, Birgül Kırel, Samim Özen, Tahir Atik, Şükran Darcan, Ferda Özkınay
Maturity onset diabetes is a genetic form of diabetes mellitus characterized by an early age at onset and several etiologic genes for this form of diabetes have been identified in many patients. Maturity onset diabetes type 2 [MODY2 (#125851)] caused by mutations in the glucokinase gene (GCK). Although its prevalence is not clear, it is estimated that 1%-2% of patients with diabetes have the monogenic form. The aim of this study was to evaluate the molecular spectrum of GCK gene mutations in 177 Turkish MODY type 2 patients...
October 19, 2017: Gene
https://www.readbyqxmd.com/read/29020906/the-prevalence-of-monogenic-diabetes-in-australia-the-fremantle-diabetes-study-phase-ii
#20
Timothy Me Davis, Ashley E Makepeace, Sian Ellard, Kevin Colclough, Kirsten Peters, Andrew Hattersley, Wendy A Davis
OBJECTIVE: To determine the prevalence of monogenic diabetes in an Australian community. DESIGN: Longitudinal observational study of a cohort recruited between 2008 and 2011. SETTING: Urban population of 157 000 people (Fremantle, Western Australia). PARTICIPANTS: 1668 (of 4639 people with diabetes) who consented to participation (36.0% participation). MAIN OUTCOME MEASURES: Prevalence of maturity-onset diabetes of the young (MODY) and permanent neonatal diabetes in patients under 35 years of age, from European and non-European ethnic backgrounds, who were at risk of MODY according to United Kingdom risk prediction models, and who were then genotyped for relevant mutations...
October 16, 2017: Medical Journal of Australia
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