keyword
MENU ▼
Read by QxMD icon Read
search

MODY type diabetes

keyword
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
#1
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
#2
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
#3
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...
November 28, 2017: Clinical Therapeutics
https://www.readbyqxmd.com/read/29183106/monogenic-diabetes-not-caused-by-mutations-in-mody-genes-a-very-heterogenous-group-of-diabetes
#4
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
#5
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
#6
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
#7
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
#8
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...
November 8, 2017: 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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28934671/the-hnf1a-mutant-ala180val-clinical-challenges-in-determining-causality-of-a-rare-hnf1a-variant-in-familial-diabetes
#13
J V Sagen, L Bjørkhaug, B I Haukanes, L Grevle, J Molnes, B G Nedrebø, O Søvik, P R Njølstad, S Johansson, A Molven
AIMS: Heterozygous mutations in hepatocyte nuclear factor-1A (HNF1A) cause maturity-onset diabetes of the young type 3 (MODY3). Our aim was to compare two families with suspected dominantly inherited diabetes and a new HNF1A variant of unknown clinical significance. METHODS: The HNF1A gene was sequenced in two independently recruited families from the Norwegian MODY Registry. Both familes were phenotyped clinically and biochemically. Microsatellite markers around and within the HNF1A locus were used for haplotyping...
September 1, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28925365/generation-of-an-induced-pluripotent-stem-cell-ipsc-line-from-a-patient-with-maturity-onset-diabetes-of-the-young-type-13-mody13-with-a-the-potassium-inwardly-rectifying-channel-subfamily-j-member-11-kcnj11-mutation
#14
Frank Griscelli, Olivier Feraud, Tony Ernault, Noufissa Oudrihri, Ali G Turhan, Amélie Bonnefond, Philippe Froguel, Annelise Bennaceur-Griscelli
Heterozygous activating mutation (p.Glu227Lys) in KCNJ11 leads to maturity-onset diabetes of the young (MODY) type 13, that is a subtype of dominant inherited young-onset non-autoimmune diabetes due to a primary defect in pancreatic beta cells. We generated induced pluripotent stem cells (iPSCs) from a patient with KCNJ11(p.Glu227Lys) mutation who developed MODY at 13years old. KCNJ11(p.Glu227Lys)-mutated cells that were reprogrammed by non-integrative viral transduction had normal karyotype, harboured the KCNJ11(p...
August 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28899902/pharmacological-inhibition-of-protein-tyrosine-phosphatase-1b-protects-against-atherosclerotic-plaque-formation-in-the-ldlr-mouse-model-of-atherosclerosis
#15
Dawn Thompson, Nicola Morrice, Louise Grant, Samantha Le Sommer, Emma K Lees, Nimesh Mody, Heather M Wilson, Mirela Delibegovic
Cardiovascular disease (CVD) is the most prevalent cause of mortality among patients with type 1 or type 2 diabetes, due to accelerated atherosclerosis. Recent evidence suggests a strong link between atherosclerosis and insulin resistance, due to impaired insulin receptor (IR) signalling. Here, we demonstrate that inhibiting the activity of protein tyrosine phosphatase 1B (PTP1B), the major negative regulator of the IR prevents and reverses atherosclerotic plaque formation in an LDLR(-/-) mouse model of atherosclerosis...
October 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28840639/use-of-oral-antidiabetic-drugs-in-the-treatment-of-maturity-onset-diabetes-of-the-young-a-mini-review
#16
REVIEW
Ludmila Brunerova, Dario Rahelić, Antonio Ceriello, Jan Broz
MODY (maturity-onset diabetes of the young) is a genetically linked group of clinically heterogeneous subtypes of diabetes. Roughly 5% of people with diabetes mellitus diagnosed prior to age 45 have MODY diabetes. Most of them have been erroneously diagnosed as patients with either type 1 or type 2 diabetes and, as a result, have been improperly treated. Genetic identification of MODY diabetes and its subtypes allows proper treatment and enables clinicians to switch many patients to oral antidiabetic agents, mainly sulphonylureas...
August 24, 2017: Diabetes/metabolism Research and Reviews
https://www.readbyqxmd.com/read/28835481/incremental-cost-effectiveness-of-algorithm-driven-genetic-testing-versus-no-testing-for-maturity-onset-diabetes-of-the-young-mody-in-singapore
#17
Hai Van Nguyen, Eric Andrew Finkelstein, Shweta Mital, Daphne Su-Lyn Gardner
BACKGROUND: Offering genetic testing for Maturity Onset Diabetes of the Young (MODY) to all young patients with type 2 diabetes has been shown to be not cost-effective. This study tests whether a novel algorithm-driven genetic testing strategy for MODY is incrementally cost-effective relative to the setting of no testing. METHODS: A decision tree was constructed to estimate the costs and effectiveness of the algorithm-driven MODY testing strategy and a strategy of no genetic testing over a 30-year time horizon from a payer's perspective...
November 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28804970/arrhythmogenic-gene-remodelling-in-elderly-patients-with-type-2-diabetes-with-aortic-stenosis-and-normal-left-ventricular-ejection-fraction
#18
R Ashrafi, P Modi, A Y Oo, D M Pullan, K Jian, H Zhang, J Yanni Gerges, G Hart, M R Boyett, G K Davis, J P H Wilding
What is the central question of this study? Type 2 diabetes is associated with a higher rate of ventricular arrhythmias compared with the non-diabetic population, but the associated myocardial gene expression changes are unknown; furthermore, it is also unknown whether any changes are attributable to chronic hyperglycaemia or are a consequence of structural changes. What is the main finding and its importance? We found downregulation of left ventricular ERG gene expression and increased NCX1 gene expression in humans with type 2 diabetes compared with control patients with comparable left ventricular hypertrophy and possible myocardial fibrosis...
August 14, 2017: Experimental Physiology
https://www.readbyqxmd.com/read/28804210/efficacy-and-safety-of-alogliptin-in-a-pediatric-patient-with-maturity-onset-diabetes-of-the-young-type-1
#19
Ryosuke Tonouchi, Yusuke Mine, Masako Aoki, Misako Okuno, Junichi Suzuki, Tatsuhiko Urakami
The first-line pharmacological treatment for patients with maturity-onset diabetes of the young type 1 (MODY1) and maturity-onset diabetes of the young type 3 (MODY3) are sulfonylureas (SUs) or insulin. However, several reports have suggested the possibility of using incretin-associated drugs, including dipeptidyl-peptidase-4 (DPP-4) inhibitors, for the treatment of patients with these types of MODY. Here we report a case of a pediatric patient with MODY1 who was successfully treated with a DPP-4 inhibitor, alogliptin...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28754804/fifteen-minute-consultation-monogenic-forms-of-diabetes-with-onset-after-age-6-months
#20
Emma M Dyer, Rakesh Amin
Monogenic forms of diabetes (historically known as Maturity Onset Diabetes of the Young (MODY)) are caused by single gene mutations inherited in an autosomal dominant fashion that result in reduced pancreatic beta cell function. Children with these forms of diabetes may be misdiagnosed as having type 1 or 2 diabetes, which has important implications for treatment, genetic counselling, screening of family members and prognosis. Useful tools now exist to aid in their diagnosis and management. Here, we attempt to outline the clinical features that will help the physician make the differentiation from other diabetes subtypes...
July 28, 2017: Archives of Disease in Childhood. Education and Practice Edition
keyword
keyword
51584
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"