keyword
MENU ▼
Read by QxMD icon Read
search

MODY type diabetes

keyword
https://www.readbyqxmd.com/read/27899486/functional-investigations-of-hnf1a-identify-rare-variants-as-risk-factors-for-type-2-diabetes-in-the-general-population
#1
Laeya Abdoli Najmi, Ingvild Aukrust, Jason Flannick, Janne Molnes, Noel Burtt, Anders Molven, Leif Groop, David Altshuler, Stefan Johansson, Lise Bjørkhaug, Pål Rasmus Njølstad
Variants in HNF1A encoding hepatocyte nuclear factor-1A are associated with maturity-onset diabetes of the young (MODY3) and type 2 diabetes. We investigated whether functional classification of HNF1A rare coding variants can inform models of diabetes risk prediction in the general population by analyzing the effect of 27 HNF1A variants identified in well-phenotyped populations (n = 4115). Bioinformatics tools classified 11 variants as likely pathogenic and showed no association with diabetes risk (combined MAF = 0...
November 29, 2016: Diabetes
https://www.readbyqxmd.com/read/27877058/teneligliptin-real-world-efficacy-assessment-of-type-2-diabetes-mellitus-patients-in-india-treat-india-study
#2
Sujoy Ghosh, Shailesh Trivedi, Debmalya Sanyal, K D Modi, Sandeep Kharb
BACKGROUND AND AIMS: Teneligliptin was introduced in India in May 2015. It has gained popularity and is already widely prescribed in type 2 diabetes mellitus (T2DM). This "real life" data collection was conducted to assess the efficacy of teneligliptin in Indian T2DM patients. METHODS: Predesigned structured proforma was used to collect information from the prescribing physicians regarding the efficacy of teneligliptin when prescribed as monotherapy as well as combination therapy with other antidiabetic drugs in T2DM patients...
2016: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy
https://www.readbyqxmd.com/read/27852188/a-review-of-maturity-onset-diabetes-of-the-young-mody-and-challenges-in-the-management-of-glucokinase-mody
#3
Ramy H Bishay, Jerry R Greenfield
Maturity onset diabetes of the young (MODY), the most common monogenic form of diabetes, accounts for 1-2% of all diabetes diagnoses. Glucokinase (GCK)-MODY (also referred to as MODY2) constitutes 10-60% of all MODY cases and is inherited as an autosomal dominant heterozygous mutation, resulting in loss of function of the GCK gene. Patients with GCK-MODY generally have mild, fasting hyperglycaemia that is present from birth, are commonly leaner and diagnosed at a younger age than patients with type 2 diabetes, and rarely develop complications from diabetes...
November 21, 2016: Medical Journal of Australia
https://www.readbyqxmd.com/read/27810688/clinical-whole-exome-sequencing-in-early-onset-diabetes-patients
#4
Soo Heon Kwak, Chan-Hyeon Jung, Chang Ho Ahn, Jungsun Park, Jeesoo Chae, Hye Seung Jung, Young Min Cho, Dae Ho Lee, Jong-Il Kim, Kyong Soo Park
AIMS: There could be an overlap of monogenic diabetes and early onset type 2 diabetes in those who are diagnosed before age of 30years. Genetic diagnosis in these patients might improve the quality of care. A limited number of studies have used whole exome sequencing (WES) in Asian patients with early onset diabetes, and the clinical utility of WES is largely unknown. METHODS: We performed whole exome capture and massive parallel sequencing in 28 patients with early onset diabetes...
October 15, 2016: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/27807544/qualitative-parameters-of-the-colonic-flora-in-patients-with-hnf1a-mody-are-different-from-those-observed-in-type-2-diabetes-mellitus
#5
Sandra Mrozinska, Piotr Radkowski, Tomasz Gosiewski, Magdalena Szopa, Malgorzata Bulanda, Agnieszka H Ludwig-Galezowska, Iwona Morawska, Agnieszka Sroka-Oleksiak, Bartlomiej Matejko, Przemyslaw Kapusta, Dominika Salamon, Maciej T Malecki, Pawel Wolkow, Tomasz Klupa
Background. Type 2 diabetes mellitus (T2DM) is determined by genetic and environmental factors. There have been many studies on the relationship between the composition of the gastrointestinal bacterial flora, T2DM, and obesity. There are no data, however, on the gut microbiome structure in monogenic forms of the disease including Maturity Onset Diabetes of the Young (MODY). Methods. The aim of the investigation was to compare the qualitative parameters of the colonic flora in patients with HNF1A-MODY and T2DM and healthy individuals...
2016: Journal of Diabetes Research
https://www.readbyqxmd.com/read/27748026/a-description-of-clinician-reported-diagnosis-of-type-2-diabetes-and-other-non-type-1-diabetes-included-in-a-large-international-multicentered-pediatric-diabetes-registry-sweet
#6
Danièle Pacaud, Anke Schwandt, Carine de Beaufort, Kristina Casteels, Jacques Beltrand, Niels H Birkebaek, Myrna Campagnoli, Natasa Bratina, Catarina Limbert, Stephen Mp O'Riordan, Rogério Ribeiro, Andriani Gerasimidi-Vazeou, Lenka Petruzelkova, Rasa Verkauskiene, Iveta Dzivite Krisane
BACKGROUND: Although type 1 diabetes (T1D) remains the most frequent form of diabetes in individuals aged less than 20 years at onset, other forms of diabetes are being increasingly recognized. OBJECTIVES: To describe the population of children with other forms of diabetes (non-type 1) included in the multinational SWEET (Better control in Pediatric and Adolescent diabeteS: Working to crEate CEnTers of Reference) database for children with diabetes. METHODS: Cases entered in the SWEET database are identified by their physician as T1D, type 2 diabetes (T2D) and other types of diabetes according to the ISPAD classification...
October 2016: Pediatric Diabetes
https://www.readbyqxmd.com/read/27659712/clinical-and-molecular-characterization-of-a-novel-ins-mutation-identified-in-patients-with-mody-phenotype
#7
Barbara Piccini, Rosangela Artuso, Lorenzo Lenzi, Monica Guasti, Giulia Braccesi, Federica Barni, Emilio Casalini, Sabrina Giglio, Sonia Toni
Correct diagnosis of Maturity-Onset Diabetes of the Young (MODY) is based on genetic tests requiring an appropriate subject selection by clinicians. Mutations in the insulin (INS) gene rarely occur in patients with MODY. This study is aimed at determining the genetic background and clinical phenotype in patients with suspected MODY. 34 patients with suspected MODY, negative for mutations in the GCK, HNF1α, HNF4α, HNF1β and PDX1 genes, were screened by next generation sequencing (NGS). A heterozygous INS mutation was identified in 4 members of the same family...
September 19, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27598916/-diabetes-in-pregnancy-type-1-type-2-diabetes-mellitus-and-gestational-diabetes-mellitus
#8
Helmut Kleinwechter, Norbert Demandt
In Germany in 5.5% of all births diabetes is registered. In patients with type 1 and type 2 diabetes planning pregnancy, preconception counseling, diabetologic care with optimized periconceptional metabolic control and folic acid supplementation are essential for good pregnancy outcome. Gestational diabetes (GDM) should be diagnosed timely and managed according to existing guidelines. GDM is treated with insulin in approximately 20%. In 1-2% of GDM cases a glucokinase gene mutation is present (MODY 2). Pregnancies after bariatric-metabolic surgery are increasing and show high risks...
September 2016: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/27571483/the-genetic-architecture-of-diabetes-in-pregnancy-implications-for-clinical-practice
#9
Jeffrey W Kleinberger, Kristin A Maloney, Toni I Pollin
The genetic architecture of diabetes mellitus in general and in pregnancy is complex, owing to the multiple types of diabetes that comprise both complex/polygenic forms and monogenic (largely caused by a mutation in a single gene) forms such as maturity-onset diabetes of the young (MODY). Type 1 diabetes (T1D) and type 2 diabetes (T2D) have complex genetic etiologies, with over 40 and 90 genes/loci, respectively, implicated that interact with environmental/lifestyle factors. The genetic etiology of gestational diabetes mellitus has largely been found to overlap that of T2D...
August 29, 2016: American Journal of Perinatology
https://www.readbyqxmd.com/read/27462584/the-changes-of-subtypes-in-pediatric-diabetes-and-their-clinical-and-laboratory-characteristics-over-the-last-20-years
#10
Eun Byul Kwon, Hae Sang Lee, Young Seok Shim, Hwal Rim Jeong, Jin Soon Hwang
PURPOSE: We studied the changes in subtypes of diabetes mellitus (DM) in children and evaluated the characteristics of each group over the past 20 years. In addition, we also examined the correlation between the glycated hemoglobin (HbA1c) values at the time of diagnosis and lipid profiles. METHODS: The patients were divided into 2 groups: there were a total of 190 patients under 20 years of age firstly diagnosed with DM in Ajou University Hospital. The patients in groups I and II were diagnosed from September 1995 to December 2004 and from January 2005 to April 2014, respectively...
June 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27398945/identification-of-monogenic-gene-mutations-in-japanese-subjects-diagnosed-with-type-1b-diabetes-between-5-and-15-1-years-of-age
#11
Maki Moritani, Ichiro Yokota, Reiko Horikawa, Tatsuhiko Urakami, Aki Nishii, Tomoyuki Kawamura, Nobuyuki Kikuchi, Touru Kikuchi, Tsutomu Ogata, Shigetaka Sugihara, Shin Amemiya
BACKGROUND: Monogenic mutations, such as those in the potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) and insulin (INS) genes, are identified in young patients with type 1B diabetes (non-autoimmune-mediated). We recently reported the results of a test for monogenic forms of diabetes in Japanese children who were diagnosed with type 1B diabetes at <5 years of age. In this study, we tested for monogenic forms of diabetes in Japanese children aged >5 to ≤15...
September 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27389722/efficacy-of-extracorporeal-albumin-dialysis-for-acute-kidney-injury-due-to-cholestatic-jaundice-nephrotoxicity
#12
Florence Sens, Justine Bacchetta, Maud Rabeyrin, Laurent Juillard
We report a case of a 37-year-old man with Maturity Onset Diabetes of the Youth (MODY) type 5, admitted for an episode of cholestasis and a simultaneous acute kidney injury (AKI). Chronic liver disease was due to a mutation in the transcription factor 2 (TCF2) gene, thus highlighting the need for a close liver follow-up in these patients. AKI was attributed to a cholemic nephropathy based on the following rationale: (1) alternative diagnoses were actively ruled out; (2) the onset of AKI coincided with the onset of severe hyperbilirubinaemia; (3) renal pathology showed large bile tubular casts and a marked tubular necrosis and (4) creatinine serum dramatically decreased when bilirubin levels improved after the first sessions of extracorporeal albumin dialysis (ECAD), thus suggesting its role in renal recovery...
2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27321323/unexpected-finding-of-a-whole-hnf1b-gene-deletion-during-the-screening-of-rare-mody-types-in-a-series-of-brazilian-patients-negative-for-gck-and-hnf1a-mutations
#13
Renata P Dotto, Fernando M A Giuffrida, Luciana Franco, Andreia L G Mathez, Leticia S Weinert, Sandra P Silveiro, Joao R Sa, Andre F Reis, Magnus R Dias-da-Silva
Thirty-two patients with diabetes negative for point mutations in GCK and HNF1A underwent further molecular screening of GCK, HNF1A, HNF4A, and HNF1B by MLPA analysis. We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.
December 0: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/27231266/diabetes-in-pregnancy-and-infant-adiposity-systematic-review-and-meta-analysis
#14
Karen M Logan, Chris Gale, Matthew J Hyde, Shalini Santhakumaran, Neena Modi
OBJECTIVE: Maternal glycaemia and anthropometry-derived newborn adiposity are strongly correlated. The children of mothers with diabetes are at greater risk of adverse metabolic health, and increased adiposity is a plausible mediator. We undertook a systematic review and meta-analysis to compare adiposity in infants of diabetic mothers (IDM) and infants of mothers without diabetes (NIDM). DESIGN: We identified observational studies reporting adiposity in IDM and NIDM...
May 26, 2016: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/27207547/type-1-diabetes-genetic-risk-score-a-novel-tool-to-discriminate-monogenic-and-type-1-diabetes
#15
Kashyap A Patel, Richard A Oram, Sarah E Flanagan, Elisa De Franco, Kevin Colclough, Maggie Shepherd, Sian Ellard, Michael N Weedon, Andrew T Hattersley
Distinguishing patients with monogenic diabetes from those with type 1 diabetes (T1D) is important for correct diagnosis, treatment, and selection of patients for gene discovery studies. We assessed whether a T1D genetic risk score (T1D-GRS) generated from T1D-associated common genetic variants provides a novel way to discriminate monogenic diabetes from T1D. The T1D-GRS was highly discriminative of proven maturity-onset diabetes of young (MODY) (n = 805) and T1D (n = 1,963) (receiver operating characteristic area under the curve 0...
July 2016: Diabetes
https://www.readbyqxmd.com/read/27180969/comparable-pharmacodynamics-efficacy-and-safety-of-linagliptin-5-mg-among-japanese-asian-and-white-patients-with-type-2-diabetes
#16
Akiko Sarashina, Christian Friedrich, Susanne Crowe, Sanjay Patel, Ulrike Graefe-Mody, Naoyuki Hayashi, Yoshiharu Horie
AIMS/INTRODUCTION: The efficacy and safety of drugs can vary between different races or ethnic populations because of differences in the relationship of dose to exposure, pharmacodynamic response or clinical efficacy and safety. In the present post-hoc analysis, we assessed the influence of race on the pharmacokinetics, pharmacodynamics, efficacy and safety of monotherapy with the dipeptidyl peptidase-4 inhibitor, linagliptin, in patients with type 2 diabetes enrolled in two comparable, previously reported randomized phase III trials...
September 2016: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/27148439/studies-of-genetic-variability-of-the-hepatocyte-nuclear-factor-1%C3%AE-gene-in-an-indian-maturity-onset-diabetes-of-the-young-family
#17
Jing Yang, Feng Jiang, Hui Guo, Thadimacca Soniya, Chun-Xia Yan, Zhu-Fang Tian, Bing-Yin Shi
Maturity-onset diabetes of the young (MODY), one of the specific types of diabetes mellitus, is a monogenetic disorder characterized by an autosomal dominant (AD) inheritance and β-cell dysfunction. To study an Indian family with clinical diagnosis of MODY and detect the genetic mutations in the aspect of molecular mechanism, seven blood samples were obtained from the diabetic patients of this pedigree and genomic DNA was extracted from peripheral leukocytes. The exon1, exon2 and exon4 of hepatocyte nuclear factor-1α (HNF-1α) gene were amplified by polymerase chain reaction...
2016: Cell & Bioscience
https://www.readbyqxmd.com/read/27142837/divergent-phenotypes-in-siblings-with-identical-novel-mutations-in-the-hnf-1%C3%AE-gene-leading-to-maturity-onset-diabetes-of-the-young-type-3
#18
Birgit Knebel, Susanne Mack, Jutta Haas, Mona Kathrin Herman-Friede, Simone Lange, Oliver Schubert, Jorg Kotzka, Dirk Muller-Wieland
BACKGROUND: Maturity onset diabetes of the young (MODY) is an autosomal dominant form of non-insulin-dependent diabetes mellitus caused by mutations in at least 13 different genes. The hepatocyte nuclear factor (HNF)-1α gene is affected in the most common form (HNF1A-MODY [MODY3]). CASE PRESENTATION: We describe the co-inheritance of a novel heterozygous missense mutation c.1761C > G (p.Pro588Ala) with a novel complex deletion insertion mutation (c.1765_1766delinsGCCCGfs86*) in the HNF-1α gene among affected members of one family...
2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27130141/maturity-onset-diabetes-of-the-young-mody-making-the-right-diagnosis-to-optimize-treatment
#19
Shazhan Amed, Richard Oram
Maturity onset diabetes of the young (MODY) is a rare but increasingly recognized cause of diabetes in young people. It is a monogenic disorder that typically presents at <25 years of age, is non-insulin dependent and is familial, with an autosomal dominant pattern of inheritance. The most common forms of MODY are caused by mutations in glucokinase and hepatic nuclear factor 1 alpha or 4 alpha genes and account for almost 80% of cases of MODY. MODY is commonly misdiagnosed as type 1 or type 2 diabetes and, as a result, patients are often inappropriately managed with insulin when they can be more effectively managed with oral sulfonylureas...
April 26, 2016: Canadian Journal of Diabetes
https://www.readbyqxmd.com/read/27103109/searching-for-maturity-onset-diabetes-of-the-young-mody-when-and-what-for
#20
José Timsit, Cécile Saint-Martin, Danièle Dubois-Laforgue, Christine Bellanné-Chantelot
Maturity-onset diabetes of the young (MODY) is a group of monogenic diseases that results in primary defects in insulin secretion and dominantly inherited forms of nonautoimmune diabetes. Although many genes may be associated with monogenic diabetes, heterozygous mutations in 6 of them are responsible for the majority of cases of MODY. Glucokinase (GCK)-MODY is due to mutations in the glucokinase gene, 3 MODY subtypes are associated with mutations in the hepatocyte nuclear factor (HNF) transcription factors, and 2 others with mutations in ABCC8 and KCNJ11, which encode the subunits of the ATP-dependent potassium channel in pancreatic beta cells...
April 18, 2016: Canadian Journal of Diabetes
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"