Abstract:
BACKGROUND:The aim of the study was to search for mutations in the NEUROD1 and IPF-1 genes in patients with clinical characteristics of maturity-onset diabetes of the young (MODY) but with no mutations in the HNF-4A (MODY1), GCK (MODY2) and TCF1 (MODY3) genes. METHODS:We studied 30 unrelated Czech probands with a clinical diagnosis of MODY (median age at testing, 18 yr; median age at the recognition of hyperglycaemia, 16 yr). The promoter, exons and exon/intron boundaries of the NEUROD1 and IPF-1 genes were examined by polymerase chain reaction-denaturing high performance liquid chromatography and direct sequencing. RESULTS:While no mutations were found in the IPF-1 gene, a novel H241Q substitution of NEUROD1 gene was identified in two unrelated families. In the first proband, the H241Q mutation led to early diagnosed (20 yr) hyperglycaemia followed by development of diabetic microvascular complications by the age of 32 yr. The second proband suffered from slowly progressing hyperglycaemia detected at the age of 30 yr. Affected members of both families were obese. The overall prevalence of the variant among the general population was 4 of 13 568 chromosomes. CONCLUSIONS:We report a novel disease-associated variant in NEUROD1 identified among a set of MODYX families. The variant seems to precipitate type-2-like diabetes in excessively obese individuals.
journal_name
Pediatr Diabetesjournal_title
Pediatric diabetesauthors
Gonsorcíková L,Průhová S,Cinek O,Ek J,Pelikánová T,Jørgensen T,Eiberg H,Pedersen O,Hansen T,Lebl Jdoi
10.1111/j.1399-5448.2008.00379.xsubject
Has Abstractpub_date
2008-08-01 00:00:00pages
367-72issue
4 Pt 2eissn
1399-543Xissn
1399-5448pii
PDI379journal_volume
9pub_type
杂志文章abstract:BACKGROUND:Mild hypoglycemia is commonly observed in children treated for type 1 diabetes mellitus (T1DM). Hypoglycemia disturbs cognition and learning. OBJECTIVE:To describe how and to what extent hypoglycemia in young children with T1DM is detected in everyday life. To learn how parents and caregivers treat hypoglyc...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12057
更新日期:2014-02-01 00:00:00
abstract:OBJECTIVE:To investigate if maternal diet during pregnancy is associated with occurrence of islet autoimmunity (IA) in the offspring. METHODS:Of 21 700 infants invited to the All Babies in South-east Sweden (ABIS) study, 16 004 screening questionnaires, including a 22-item food frequency questionnaire (FFQ) regarding ...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2009.00563.x
更新日期:2010-06-01 00:00:00
abstract:OBJECTIVE:We aimed to assess the prevalence of autoantibodies against the 4A subunit of the gastric proton pump (ATP4A) in pediatric type 1 diabetes (T1D) patients and explore the relationship between ATP4A positivity and blood cell count, iron turnover, and vitamin B12 concentration. SUBJECTS:The study included 94 (5...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12528
更新日期:2018-02-01 00:00:00
abstract:BACKGROUND/OBJECTIVE:The global increase in childhood obesity has in some countries been followed by an increase in type 2 diabetes mellitus (T2DM); however, the prevalence of T2DM among Danish children and adolescents is currently unknown. The aims of this cross-sectional study were to determine the prevalence of T2DM...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12291
更新日期:2016-08-01 00:00:00
abstract:BACKGROUND:Children who inject insulin need clear guidelines as to the length of needle best for them. We studied the distance from surface to muscle in children in order to make needle choices which are evidence-based. METHODS:One hundred one children with type 1 diabetes were divided into three groups according to a...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2012.00865.x
更新日期:2012-11-01 00:00:00
abstract::With the increasing success of islet transplantation, beta-cell replacement therapy has had renewed interest. To make such a therapy available to more than a few of the thousands of patients with diabetes, new sources of insulin-producing cells must become readily available. The most promising sources are stem cells, ...
journal_title:Pediatric diabetes
pub_type: 杂志文章,评审
doi:10.1111/j.1399-543X.2004.00075.x
更新日期:2004-01-01 00:00:00
abstract:BACKGROUND:Several intervention studies have convincingly demonstrated the importance of good glycemic control to avoid long-term diabetic complications, but the importance of other risk factors remains controversial. We previously reported a markedly reduced incidence of severe retinopathy and nephropathy during the p...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2008.00472.x
更新日期:2009-05-01 00:00:00
abstract:OBJECTIVE:This study aimed to determine the degree of left ventricular (LV) dysfunction and its determinants in adolescents with type 2 diabetes (T2D). We hypothesized that adolescents with T2D would display impaired LV diastolic function and that these cardiovascular complications would be exacerbated in youth exposed...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12954
更新日期:2020-03-01 00:00:00
abstract:OBJECTIVE:Dysglycemia is prevalent in cystic fibrosis (CF) but screening with annual oral glucose tolerance tests (OGTT) can be burdensome. We investigated alternate glycemic markers-hemoglobin A1c (HbA1c), 1,5-anhydroglucitol (1,5AG), fructosamine (FA), and glycated albumin (GA)-as screening tests for CF-related diabe...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12914
更新日期:2019-12-01 00:00:00
abstract::Type 1 diabetes is often accompanied with acute hypoinsulinemia that may theoretically inhibit the conversion of essential fatty acids to their longer-chain metabolites. Previously, we found significant reduction in plasma arachidonic (C20:4n-6) and docosahexaenoic (C22:6n-3) acid values in a group of diabetic childre...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2008.00487.x
更新日期:2009-05-01 00:00:00
abstract:BACKGROUND:Faster-acting insulin aspart (faster aspart) is insulin aspart (IAsp) in a new formulation with additional excipients (L-arginine and niacinamide). In adults, faster aspart provides faster onset and greater early exposure and action vs IAsp. AIM:This randomized, double-blind, 2-period crossover trial invest...
journal_title:Pediatric diabetes
pub_type: 杂志文章,随机对照试验
doi:10.1111/pedi.12506
更新日期:2017-12-01 00:00:00
abstract:OBJECTIVE:Proinsulin is a marker of beta-cell distress and dysfunction in type 2 diabetes and transplanted islets. Proinsulin levels are elevated in patients newly diagnosed with type 1 diabetes. Our aim was to assess the relationship between proinsulin, insulin dose-adjusted haemoglobin A1c (IDAA1C), glucagon-like pep...
journal_title:Pediatric diabetes
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1399-5448.2011.00812.x
更新日期:2012-02-01 00:00:00
abstract:AIM:The aim of this study was to compare genetic (HLA-DQ) and immune markers in a large population of type 1 diabetic (T1D) children and adolescents residing in the same environment, but of different ethnic origin: European Caucasians (EC), Moghrabin Caucasians (MC), Black Africans (BA) and of Mixed Origin (MO). METHO...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12293
更新日期:2016-08-01 00:00:00
abstract:OBJECTIVE:To compare outcomes of diabetic ketoacidosis (DKA) 6 yrs before and 6 yrs after changing rehydration fluids from ½ normal saline to Lactated Ringer's and decreasing the total intended fluid volume administered in the first 24 hrs from 3500 mL/m(2) /d to ≤ 2500 mL/m(2) /d at Texas Children's Hospital (TCH) in ...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12268
更新日期:2015-08-01 00:00:00
abstract:OBJECTIVES:The aim of the study was to determine the influence of regular physical activity on ghrelin and IGF-1/IGFBP-3 levels during a diabetes camp. METHODS:Twenty-eight children and adolescents (14 boys; mean age 12.1 yr) with type 1 diabetes mellitus (T1DM, mean duration of diabetes 4.8 yr) attending a 2-wk diabe...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2009.00604.x
更新日期:2010-09-01 00:00:00
abstract:OBJECTIVE:Type 2 diabetes mellitus (T2DM) is increasingly common among children and adolescents. However, achievement of good metabolic control has been difficult in this population. The aim of this study was to survey pediatric endocrine and diabetes specialists regarding the issues they consider to be barriers to suc...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1034/j.1399-5448.2003.00027.x
更新日期:2003-03-01 00:00:00
abstract:BACKGROUND/OBJECTIVE:Restrictive eligibility criteria have hampered enrollment into trials for new drugs for youth with type 2 diabetes (T2D). We utilized Pediatric Diabetes Consortium (PDC) T2D Registry enrollment data to estimate the percentage of patients who would be excluded from current T2D trials based on out-of...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12763
更新日期:2018-12-01 00:00:00
abstract:BACKGROUND:High serum uric acid (SUA) levels are present in patients with metabolic syndrome (MetS), when the latter is associated with endothelial dysfunction, inflammation, and hypertension. This increase in SUA levels may have a key role in cardiovascular diseases. OBJECTIVE:We aim to quantify the differences in in...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12199
更新日期:2015-09-01 00:00:00
abstract:OBJECTIVE:Studies indicate general psychological stress plays a role in the glycemic control of individuals with type 1 diabetes mellitus (T1DM). Disease-specific rather than general measures may be more closely related to measures of health outcomes. Therefore, measurement of diabetes-related stress is needed to advan...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2012.00894.x
更新日期:2013-02-01 00:00:00
abstract::Because amylin is co-secreted with insulin from beta cells, patients with type 1 diabetes (T1DM) are deficient in both insulin and amylin. Amylin delays gastric emptying and suppresses glucagon in the postprandial period. Hence, we hypothesized that children with complication-naive T1DM have accelerated gastric emptyi...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2008.00430.x
更新日期:2008-12-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:The presence of β-cell antibodies is associated with a high risk of type 1 diabetes. With increasing rates of obesity, the distinction between obese T1DM and T2DM has become difficult. Moreover, increasing body mass index (BMI) in at-risk children has been proposed not only as a possible contri...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2010.00697.x
更新日期:2011-05-01 00:00:00
abstract:BACKGROUND:Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) is one of the rare H syndrome diseases mainly characterized by hyperpigmentation, hypertrichosis, sensorineural hearing loss, cardiac complications, developmental delay, and diabetes mellitus (DM). Mutations in the coding...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12839
更新日期:2019-06-01 00:00:00
abstract::Glucokinase gene (GCK) mutations comprise approximately 10% of cases of maturity-onset diabetes of the young (MODY). Over 800 different mutations in GCK have been reported in the Human Gene Mutation Database, the vast majority of which result in MODY type 2. The missense mutation p.Leu122Val is listed in that database...
journal_title:Pediatric diabetes
pub_type:
doi:10.1111/pedi.13058
更新日期:2020-09-01 00:00:00
abstract:BACKGROUND:Few diabetes-specific quality of life (QOL) tools are available for young children. OBJECTIVES:To design and evaluate, a new age-specific QOL questionnaire and its associations with treatment regimens and metabolic control. METHODS:Clinical, demographic data and centrally analyzed HbA1c were collected on 1...
journal_title:Pediatric diabetes
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1111/pedi.12602
更新日期:2018-05-01 00:00:00
abstract:BACKGROUND:Real-time continuous glucose monitoring systems (RT-CGMS) are a recently introduced technology for type 1 diabetes and experience in children is limited. OBJECTIVE:To assess patient and caregiver's perception of benefits and disadvantages of RT-CGMS in children or young adults with type 1 diabetes mellitus ...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2009.00549.x
更新日期:2010-05-01 00:00:00
abstract::The association of type 1 diabetes mellitus (T1DM) and acute chorea is rare. We report an 8-yr-old boy with T1DM who developed acute hemichorea-hemiballism of the right arm in whom magnetic resonance imaging (MRI) of the brain revealed hyperintense signal in putamen and considerable atrophy and focal area of gliosis i...
journal_title:Pediatric diabetes
pub_type: 杂志文章,评审
doi:10.1111/j.1399-5448.2012.00856.x
更新日期:2012-09-01 00:00:00
abstract:BACKGROUND:Non-alcoholic fatty liver disease (NAFLD) is a comorbidity of childhood obesity. OBJECTIVE:We examined whole-body substrate metabolism and metabolic characteristics in obese adolescents with vs. without NAFLD. SUBJECTS:Twelve obese (BMI ≥ 95th percentile) adolescents with and without NAFLD [intrahepatic tr...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12141
更新日期:2015-05-01 00:00:00
abstract:OBJECTIVE:To investigate the changes of peripheral nerve conduction in children with insulin-dependent diabetes mellitus (IDDM) prospectively from diagnosis and to know how those results were related to clinical risk factors. METHODS:A total of 37 patients (14 males and 23 females) aged 3-19 yr (mean 12.0 ± 3.7) with ...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2009.00636.x
更新日期:2010-12-01 00:00:00
abstract::A subgroup of diabetic patients presents with features typical of type 1 diabetes, but over months to years has variable insulin requirements and develops features of type 2 diabetes. This subgroup is referred to as atypical diabetes mellitus (ADM). Over a span of 50 yr, reports on disease epidemiology, clinical chara...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1046/j.1399543x.2000.010409.x
更新日期:2000-12-01 00:00:00
abstract:OBJECTIVE:To determine the roles of complement C4A and C4B gene copy-number variations and their plasma protein concentrations in residual insulin secretion and loss of pancreatic β-cell function in new-onset type 1 diabetes (T1D) patients. METHODS:We studied 34 patients of European ancestry with new-onset T1D, aged b...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2011.00836.x
更新日期:2012-08-01 00:00:00