Abstract：
:MODY is an early-onset monogenic form of diabetes. Correctly identifying MODY is of considerable importance as diagnosing the specific genetic subtype can inform the optimal treatment, with many patients being able to discontinue unnecessary insulin treatment. Diagnostic molecular genetic testing to confirm MODY is expensive, so screening strategies are required to identify the most appropriate patients for testing. In this issue of Diabetologia, Johansson and colleagues (DOI 10.1007/s00125-016-4167-1 ) describe a nationwide systematic screening approach to identify individuals with MODY in the paediatric age range. They focused testing on patients negative for both GAD and islet antigen 2 (IA-2) islet autoantibodies, thereby ruling out those with markers of type 1 diabetes, the most common form of diabetes in this age group. This commentary discusses the advantages and limitations of the approach, and the caution required when interpreting variants of uncertain pathogenicity identified from testing whole populations rather than targeting only patients with a strong MODY phenotype.
journal_name
Diabetologiajournal_title
Diabetologiaauthors
Shields B,Colclough Kdoi
10.1007/s00125-017-4213-7subject
Has Abstractpub_date
2017-04-01 00:00:00pages
609-612issue
4eissn
0012-186Xissn
1432-0428pii
10.1007/s00125-017-4213-7journal_volume
60pub_type
评论,社论相关文献
DIABETOLOGIA文献大全abstract：:Insulin and somatostatin reportedly affect pancreatic acinar cell function via specific receptor binding. Theoretically peri-insular levels depend on the islet-acinar portal system, but the actual hormone levels have never been demonstrated. Rat pancreata were perfused anterogradely or retrogradely with 125I-insulin, ...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/BF00400628
更新日期：1995-03-01 00:00:00
abstract：AIMS/HYPOTHESIS:Increased NEFA levels, characteristic of type 2 diabetes mellitus, contribute to skeletal muscle insulin resistance. While NEFA-induced insulin resistance was formerly attributed to decreased glycolysis, it is likely that glucose transport is the rate-limiting defect. Recently, the plant-derived sugar a...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/s00125-012-2527-z
更新日期：2012-06-01 00:00:00
abstract：AIMS/HYPOTHESIS:Endothelial glycocalyx perturbation contributes to increased vascular permeability. In the present study we set out to evaluate whether: (1) glycocalyx is perturbed in individuals with type 2 diabetes mellitus, and (2) oral glycocalyx precursor treatment improves glycocalyx properties. METHODS:Male par...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/s00125-010-1910-x
更新日期：2010-12-01 00:00:00
abstract：AIMS/HYPOTHESIS:Hypertension, obesity, impaired glucose tolerance and dyslipidaemia are metabolic abnormalities that often cluster together more often than expected by chance alone. Since these metabolic variables are highly heritable and are at least partially genetically determined, the clustering of defects in these...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/s00125-007-0720-2
更新日期：2007-08-01 00:00:00
abstract：AIMS/HYPOTHESIS:In our previous studies a low protein diet (8% vs 20%) given during foetal and early postnatal life induced abnormal development of the endocrine pancreas; beta-cell mass and islet-cell proliferation were reduced while apoptosis was increased. Taurine, an important amino acid for development was also re...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/s00125-002-0833-6
更新日期：2002-06-01 00:00:00
abstract：:Chronic diseases arising from obesity will continue to escalate over coming decades. Current approaches to combating obesity include lifestyle measures, surgical interventions and drugs that target weight reduction or the metabolic consequences of obesity. Lifestyle measures including physical activity are usually the...
journal_title：Diabetologia
pub_type： 杂志文章,评审
doi：10.1007/s00125-009-1420-x
更新日期：2009-10-01 00:00:00
abstract：AIMS/HYPOTHESIS:Delivery of the gene for human vascular endothelial growth factor (VEGF, also known as VEGFA) to both the transplanted islets and the surrounding tissue may promote islet revascularisation and survival. We previously showed the effective delivery of VEGF gene to rat myocardium by an ultrasound-mediated ...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/s00125-010-1745-5
更新日期：2010-08-01 00:00:00
abstract：:In perifused pancreatic islets, the fluorescence of oxidized flavoproteins (FAD) was recorded continuously. Elevation of glucose concentration in the medium form 0 or 5 mM to 20 mM led to decrease in FAD-fluorescence beginning 10 sec after change of medium. L-leucine (10 mM), (+/-)-B-BCH (20 mM) and alpha-ketoisocapro...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/BF01222108
更新日期：1975-12-01 00:00:00
abstract：:The aim of the study was to evaluate an acute decrease in NEFA levels during an oral glucose tolerance test and its effects on glucose tolerance, muscle glucose uptake and muscle indirect calorimetry in ten lean non-insulin-dependent diabetic subjects. Two 75-g oral glucose tolerance tests were performed in random ord...
journal_title：Diabetologia
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1007/BF00400420
更新日期：1996-01-01 00:00:00
abstract：:The basal energy expenditure of 10 Type 1 (insulin-dependent) C-peptide-negative diabetic patients (2042 +/- 62 kcal/24 h) was found to be significantly higher than the 1774 +/- 52 kcal/24 h predicted from their age, sex and body surface area (p less than 0.01). Intravenous insulin treatment significantly reduced ener...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/BF00253494
更新日期：1984-07-01 00:00:00
abstract：AIMS/HYPOTHESIS:We investigated whether heterogeneous nuclear ribonucleoproteins F and K (hnRNP F, hnRNP K) mediate insulin inhibition of renal Agt expression and prevention of hypertension and kidney injury in an Akita mouse model of type 1 diabetes. METHODS:Adult male Akita mice (12 weeks old) were treated with insu...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/s00125-013-2910-4
更新日期：2013-07-01 00:00:00
abstract：AIMS/HYPOTHESIS:Type 2 diabetes is an established risk factor for cardiovascular disease (CVD). This increased risk may be due in part to the increased levels of inflammatory factors associated with diabetes. Lipoprotein-associated phospholipase A(2) (Lp-PLA(2)) is a risk marker for CVD and has pro-inflammatory effects...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/s00125-010-1969-4
更新日期：2011-02-01 00:00:00
abstract：:Hyperglycaemia may enhance insulin resistance typical of non-insulin dependent diabetes mellitus, as well as insulin dependent diabetes mellitus, and thus initiate a vicious pathogenetic cycle. We sought to test the hypothesis that reduction in chronic hyperglycaemia in the diabetic dog by methods that do not employ i...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/BF00290590
更新日期：1988-04-01 00:00:00
abstract：AIMS/HYPOTHESIS:Enhanced and prolonged postprandial lipaemia is related to cardiovascular disease but how postprandial lipaemia is regulated is poorly known. We therefore determined the relations of fasting insulin concentrations to fasting and postprandial lipids, lipoproteins and non-esterified fatty acids in middle-...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/s001250050028
更新日期：2000-02-01 00:00:00
abstract：AIMS/HYPOTHESIS:The aim of this study was to provide evidence that the anterior chamber of the eye serves as a novel clinical islet implantation site. METHODS:In a preclinical model, allogeneic pancreatic islets were transplanted into the anterior chamber of the eye of a baboon model for diabetes, and metabolic and op...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/s00125-011-2091-y
更新日期：2011-05-01 00:00:00
abstract：:Pancreatic beta cells differ in terms of glucose responsiveness, insulin secretion and proliferative capacity; however, the molecular pathways that regulate this cellular heterogeneity are unknown. We have identified the Wnt-planar cell polarity (PCP) effector Flattop (FLTP) as a biomarker that identifies mature beta ...
journal_title：Diabetologia
pub_type： 杂志文章,评审
doi：10.1007/s00125-016-3949-9
更新日期：2016-09-01 00:00:00
abstract：:We investigated the regulation of the mRNA expression of the insulin receptor, insulin receptor substrate-1 (IRS-1) and p85alpha-phosphatidylinositol-3-kinase (PI-3K), three major actors of insulin action, in skeletal muscle from 10 healthy lean volunteers, 13 obese patients with Type II (non-insulin-dependent) diabet...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/s001250051163
更新日期：1999-03-01 00:00:00
abstract：AIMS/HYPOTHESIS:IRS2 is an important molecular switch that mediates insulin signalling in the liver. IRS2 dysregulation is responsible for the phenomenon of selective insulin resistance that is observed in type 2 diabetes. We hypothesise that epigenetic mechanisms are involved in the regulation of IRS2 in the liver of ...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/s00125-020-05212-6
更新日期：2020-10-01 00:00:00
abstract：:There is ample evidence that environmental factors are involved in the aetiology of type 1 diabetes, but the nature and timing of the interactions are poorly understood. The intrauterine environment is known to play a role in the later development of type 2 diabetes, and this review considers a possible role in type 1...
journal_title：Diabetologia
pub_type： 杂志文章,评审
doi：10.1007/s00125-013-2929-6
更新日期：2013-09-01 00:00:00
abstract：:Insulin release and 86Rb efflux were studied in perifused rat islets exposed in vitro to alloxan (2 mmol/l) for 5 min. At a low glucose concentration, alloxan transiently increased 86Rb efflux. Alloxan immediately and completely abolished the secretory response to glucose (15 mmol/l) and markedly delayed the reduction...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/BF01221952
更新日期：1979-04-01 00:00:00
abstract：AIMS/HYPOTHESIS:As glycaemia and the incidence of microvascular diabetes complications follow a log-linear relationship, it becomes increasingly difficult to demonstrate a microvascular benefit of glucose-lowering when the HbA1c level is close to normal. METHODS:The Outcome Reduction with an Initial Glargine Intervent...
journal_title：Diabetologia
pub_type： 杂志文章,随机对照试验
doi：10.1007/s00125-014-3238-4
更新日期：2014-07-01 00:00:00
abstract：AIMS/HYPOTHESIS:Insulin resistance is considered to be a risk factor for diabetes and coronary heart disease and is determined by the interaction between genetic and environmental factors. The SstI polymorphism in the apolipoprotein C-III gene has been related to the presence of different features of the insulin resist...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/s00125-002-0884-8
更新日期：2002-08-01 00:00:00
abstract：AIMS/HYPOTHESIS:We set out to validate a recently reported type 1 diabetes association from the IFIH1 gene variation in an independent cohort from a population of mixed European descent. METHODS:We genotyped five single-nucleotide polymorphisms in the IFIH1 locus, i.e. rs2111485, rs1990760, rs3747517, rs17783344 and r...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/s00125-007-0895-6
更新日期：2008-03-01 00:00:00
abstract：:Circulating somatomedin-C/insulin-like growth factor-I levels are low in the diabetic rat and unresponsive to exogenous growth hormone. However, the nature of this defect in growth hormone action remains unclear and there is little data on insulin-like growth factor-I gene expression in response to other stimuli and i...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/BF00277488
更新日期：1988-11-01 00:00:00
abstract：:Clinical and biochemical studies were carried out in 33 patients with diabetes secondary to chronic calcific, non-alcoholic pancreatitis (tropical pancreatic diabetes) and in 35 Type 2 (non-insulin-dependent) diabetic patients and 35 non-diabetic subjects. Despite lower body mass indices, only 25% of patients with tro...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/BF00282238
更新日期：1985-04-01 00:00:00
abstract：:A potent high-titre glucagon antibody pool was used to induce a state of acute glucagon deficiency in order to investigate the importance of glucagon in maintaining euglycaemia in the fed and fasted anaesthetised rat. Binding characteristics of the antiserum and evidence of its neutralisation of the biological effects...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/BF00280887
更新日期：1985-07-01 00:00:00
abstract：AIMS/HYPOTHESIS:Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is an autosomal recessive disorder characterised by lipodystrophy and insulin resistance. BSCL2 is caused by loss-of-function mutations in the Seipin gene (also known as Bscl2). Deletion of this gene in mice induces insulin resistance, glucose in...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/s00125-019-05038-x
更新日期：2020-02-01 00:00:00
abstract：AIMS/HYPOTHESIS:We assessed the effects of vildagliptin, a novel dipeptidyl peptidase IV inhibitor, on postprandial lipid and lipoprotein metabolism in patients with type 2 diabetes. SUBJECTS, MATERIALS AND METHODS:This was a single-centre, randomised, double-blind study in drug-naive patients with type 2 diabetes. Pa...
journal_title：Diabetologia
pub_type： 杂志文章,随机对照试验
doi：10.1007/s00125-006-0340-2
更新日期：2006-09-01 00:00:00
abstract：:Progressive capillary occlusion often leads to severe retinopathy within 15-20 years of the onset of Type 1 (insulin-dependent) diabetes mellitus. Lipoprotein(a), a complex formed by apolipoprotein(a), apo B-100 and lipids, is considered an independent, genetically determined, predictor of cardiovascular disease. It m...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/BF00399100
更新日期：1993-01-01 00:00:00
abstract：AIMS/HYPOTHESIS:The aim of this study was to determine the role of fatty acid signalling in islet beta cell compensation for insulin resistance in the Zucker fatty fa/fa (ZF) rat, a genetic model of severe obesity, hyperlipidaemia and insulin resistance that does not develop diabetes. MATERIALS AND METHODS:NEFA augmen...
journal_title：Diabetologia
pub_type： 杂志文章
doi：10.1007/s00125-006-0305-5
更新日期：2006-09-01 00:00:00
