Abstract:
OBJECTIVE:Neonatal diabetes is a heterogeneous group of disorders with diabetes manifestation in the first 6 months of life. The most common etiology in permanent neonatal diabetes is mutations of the ATP-sensitive K(+) channel subunits; in transient neonatal diabetes, chromosome 6q24 abnormalities are the most common cause. RESEARCH DESIGN AND METHODS:We report a sporadic case of diabetes without ketoacidosis diagnosed on the fourth day of life. RESULTS:Analysis of the KCNJ11 gene found a novel R365H mutation in the proband and her unaffected father. The functional analysis did not support pathogenicity of this variant. When the patient's diabetes remitted in the seventh month of life, the 6q24 region was analyzed and a paternally inherited duplication was identified. CONCLUSIONS:Our case reports a coincidental novel KCNJ11 variant in a patient with transient neonatal diabetes due to a 6q24 duplication, illustrating the difficulty in testing neonates before the clinical course of neonatal diabetes is known.
journal_name
Diabetes Carejournal_title
Diabetes careauthors
Staník J,Lethby M,Flanagan SE,Gasperíková D,Milosovicová B,Lever M,Bullman H,Zubcevic L,Hattersley AT,Ellard S,Ashcroft FM,Klimes Idoi
10.2337/dc08-0549subject
Has Abstractpub_date
2008-09-01 00:00:00pages
1736-7issue
9eissn
0149-5992issn
1935-5548pii
dc08-0549journal_volume
31pub_type
杂志文章相关文献
DIABETES CARE文献大全abstract:OBJECTIVE:Depression is associated with morbidity, mortality, and decreased quality of life and is a well-established complication among people with diabetes. Little is known about the prevalence and correlates of depressive symptoms among older adults living in rural communities, particularly among ethnic minority gro...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/diacare.28.4.823
更新日期:2005-04-01 00:00:00
abstract:OBJECTIVE:To examine the prevalence and incidence of unrecognized myocardial infarction in a contemporary population with type 2 diabetes. RESEARCH DESIGN AND METHODS:We performed a retrospective analysis of the electrocardiograms (ECGs) recorded at baseline and after 2 years for the first 1,004 type 2 diabetic indivi...
journal_title:Diabetes care
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.2337/dc10-2398
更新日期:2011-06-01 00:00:00
abstract::The history of the National Diabetes Advisory Board is reviewed, particularly from the perspective of the role of the board in advancing diabetes care. In addition, its potential future activities in the arena of translating research advances, for example, the results of the Diabetes Control and Complications Trial (D...
journal_title:Diabetes care
pub_type: 杂志文章
doi:
更新日期:1994-06-01 00:00:00
abstract::The American Diabetes Association (ADA) "Standards of Medical Care in Diabetes" includes ADA's current clinical practice recommendations and is intended to provide the components of diabetes care, general treatment goals and guidelines, and tools to evaluate quality of care. Members of the ADA Professional Practice Co...
journal_title:Diabetes care
pub_type: 杂志文章,评审
doi:10.2337/dc19-S014
更新日期:2019-01-01 00:00:00
abstract:OBJECTIVE:The purpose of this study was to investigate whether genetic variants could influence the antidiabetic efficacy of gliclazide in type 2 diabetic patients. RESEARCH DESIGN AND METHODS:A total of 1,268 type 2 diabetic patients whose diabetes was diagnosed within the past 5 years and who had no recent hypoglyce...
journal_title:Diabetes care
pub_type: 杂志文章,多中心研究
doi:10.2337/dc07-2248
更新日期:2008-10-01 00:00:00
abstract:OBJECTIVE:The provariant of the Pro12Ala polymorphism in peroxisome proliferator-activated receptor (PPAR)gamma has been identified as a risk allele for type 2 diabetes. The purpose of the present study was to reveal a significant association with pre-diabetic phenotypes in nondiabetic individuals based on a systematic...
journal_title:Diabetes care
pub_type: 杂志文章,meta分析
doi:10.2337/dc06-0513
更新日期:2006-11-01 00:00:00
abstract:OBJECTIVE:Growth deferentiation factor-15 (GDF-15) is involved in inflammation and apoptosis. Expression is induced in the heart in response to ischemia and in atherosclerotic plaques. The aim of this study was to investigate GDF-15 levels in relation to all-cause mortality, cardiovascular mortality and morbidity, decl...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/dc09-2174
更新日期:2010-07-01 00:00:00
abstract::This paper provides some historical aspects on the research and development of Humulin (rDNA origin), the first human health-care product derived from rDNA technology more than a decade ago. Also referred to as biosynthetic human insulin, Humulin is currently produced via the human proinsulin route, using an Escherich...
journal_title:Diabetes care
pub_type: 杂志文章,评审
doi:10.2337/diacare.16.3.133
更新日期:1993-12-01 00:00:00
abstract:OBJECTIVE:To examine the magnitude and types of hospitalizations among persons with prediabetes, undiagnosed diabetes, and diagnosed diabetes. RESEARCH DESIGN AND METHODS:This study included 13,522 participants in the Atherosclerosis Risk in Communities (ARIC) study (mean age 57 years, 56% female, 24% black, 18% with ...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/dc15-1335
更新日期:2016-05-01 00:00:00
abstract::Of the 30,300 mothers who attended consecutively at the antenatal clinic during an 11-yr period, 3063 mothers screened positive using clinical criteria for potential diabetes in pregnancy. These 3063 mothers had a glucose tolerance test (GTT), of which 661 were judged abnormal. At different times an oral GTT, cortison...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/diacare.3.3.440
更新日期:1980-05-01 00:00:00
abstract:OBJECTIVE:To describe the impact of abdominal obesity and hepatic insulin resistance on phase-specific glycemic responses in older women. RESEARCH DESIGN AND METHODS:We studied 23 healthy older women (60-88 years old). Abdominal obesity was defined by an abdominal circumference > or =95 cm. Plasma glucose and insulin ...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/dc09-1365
更新日期:2010-01-01 00:00:00
abstract:OBJECTIVE:To examine the effect of pioglitazone on myocardial insulin sensitivity and left ventricular (LV) function in patients with type 2 diabetes (T2D). RESEARCH DESIGN AND METHODS:Twelve subjects with T2D and 12 with normal glucose tolerance received a euglycemic insulin clamp. Myocardial glucose uptake (MGU) and...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/dc17-0078
更新日期:2017-11-01 00:00:00
abstract:OBJECTIVE:This study investigated whether intimacy and autonomy in mother-daughter interactions and relational aspects of the self are associated with metabolic control in adolescent girls with type 1 diabetes. RESEARCH DESIGN AND METHODS:This cross-sectional study included 88 girls with diabetes (mean age 14.9 +/- 2....
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/diacare.27.3.709
更新日期:2004-03-01 00:00:00
abstract:OBJECTIVE:Individuals with impaired glucose tolerance (IGT) are at high risk for developing type 2 diabetes mellitus (T2DM). We examined which characteristics at baseline predicted the development of T2DM versus maintenance of IGT or conversion to normal glucose tolerance. RESEARCH DESIGN AND METHODS:We studied 228 su...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/dc13-0520
更新日期:2013-11-01 00:00:00
abstract:OBJECTIVE:To verify what information from oral glucose tolerance tests (OGTTs) independently predicts mortality. RESEARCH DESIGN AND METHODS:A total of 1,401 initially nondiabetic participants from the Baltimore Longitudinal Study of Aging aged 17-95 years underwent one or more OGTTs (median 2, range 1-8), with insuli...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/dc07-2102
更新日期:2008-05-01 00:00:00
abstract:OBJECTIVE:We prospectively investigated in hypertensive patients with type 2 diabetes if bedtime treatment with ≥1 hypertension medications exerts better blood pressure control and cardiovascular risk reduction than conventional therapy, in which all medications are ingested in the morning. RESEARCH DESIGN AND METHODS...
journal_title:Diabetes care
pub_type: 杂志文章,随机对照试验
doi:10.2337/dc11-0297
更新日期:2011-06-01 00:00:00
abstract:OBJECTIVE:To assess the relationship between cigarette smoking and mortality among women with type 2 diabetes in the Nurses' Health Study cohort. RESEARCH DESIGN AND METHODS:The Nurses' Health Study, a prospective cohort of U.S. female registered nurses, included 7,401 women with type 2 diabetes diagnosed at baseline ...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/diacare.24.12.2043
更新日期:2001-12-01 00:00:00
abstract:OBJECTIVE:To compare pharmacokinetics (PK) and pharmacodynamics (PD) of insulin glargine in type 2 diabetes mellitus (T2DM) after evening versus morning administration. RESEARCH DESIGN AND METHODS:Ten T2DM insulin-treated persons were studied during 24-h euglycemic glucose clamp, after glargine injection (0.4 units/kg...
journal_title:Diabetes care
pub_type: 杂志文章,随机对照试验
doi:10.2337/dc14-0649
更新日期:2015-03-01 00:00:00
abstract:OBJECTIVE:It is believed that disruption of vulnerable atherosclerotic plaque and subsequent thrombus formation play critical roles in the pathogenesis of cerebral infarction. We simultaneously determined four relatively common genetic variants related to plaque rupture or subsequent local thrombus formation and evalua...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/dc09-1518
更新日期:2010-02-01 00:00:00
abstract:OBJECTIVE:To evaluate the association between metformin use and anemia risk in type 2 diabetes, and the time-course for this, in a randomized controlled trial (RCT) and real-world population data. RESEARCH DESIGN AND METHODS:Anemia was defined as a hemoglobin measure of <11 g/dL. In the RCTs A Diabetes Outcome Progres...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/dc20-1104
更新日期:2020-10-01 00:00:00
abstract:OBJECTIVE:To determine if baseline subgroups in the Action to Control Cardiovascular Risk in Diabetes (ACCORD) trial can be identified for whom intensive compared with standard glycemia treatment had different effects on all-cause mortality. RESEARCH DESIGN AND METHODS:Exploratory post hoc intention-to-treat compariso...
journal_title:Diabetes care
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.2337/dc09-1471
更新日期:2010-04-01 00:00:00
abstract:OBJECTIVE:To compare the diagnostic accuracy and time expenditure of screening models based on glycated hemoglobin (HbA(1c)) level and psychometric measures for mood disorder (MD) among children with type 1 diabetes. RESEARCH DESIGN AND METHODS:With semistructured clinical interviews (Schedule for Affective Disorders ...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/dc12-0160
更新日期:2012-11-01 00:00:00
abstract:OBJECTIVE:The levels of the surrogate markers of cholesterol absorption (cholestanol and plant sterols) and synthesis (cholesterol precursors) in serum have suggested that in adult type 1 diabetes, cholesterol absorption is high and synthesis is low compared with type 2 diabetic or control subjects. Accordingly, these ...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/dc05-2235
更新日期:2006-10-01 00:00:00
abstract:OBJECTIVE:Hyperinsulinemic euglycemia, or insulin resistance syndrome (IRS), is associated with increased morbidity and mortality. Although thought to be associated with proinflammatory states, little work has been done in this area. Here, we determined the impact of IRS on functional, biochemical, metabolic, and infla...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/dc07-0649
更新日期:2007-09-01 00:00:00
abstract:OBJECTIVE:To evaluate glycemia and metrics of glucose variability in youth with type 1 diabetes, and to assess patterns of 24-h glucose variability according to pubertal status. RESEARCH DESIGN AND METHODS:Metrics of glycemia, glucose variability, and glucose patterns were assessed by using 4 weeks of continuous gluco...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/dc19-0083
更新日期:2020-01-01 00:00:00
abstract:OBJECTIVE:The purpose of this article was to compare the effects of cod protein to those of other animal proteins on insulin sensitivity in insulin-resistant human subjects. RESEARCH DESIGN AND METHODS:Insulin sensitivity (M/I) was assessed using a hyperinsulinemic-euglycemic clamp in 19 insulin-resistant subjects fed...
journal_title:Diabetes care
pub_type: 杂志文章,随机对照试验
doi:10.2337/dc07-0273
更新日期:2007-11-01 00:00:00
abstract:OBJECTIVE:To investigate the possibility that leptin levels may be predictive of the risk of ischemic heart disease (IHD) through the relationship of leptin to body fat. RESEARCH DESIGN AND METHODS:The Quebec Cardiovascular Study cohort consisted of 2,103 French-Canadian men without IHD in 1985 who were followed until...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/diacare.21.5.782
更新日期:1998-05-01 00:00:00
abstract:OBJECTIVE:Anti-programmed cell death-1 (anti-PD-1) antibodies have revolutionized advanced cancer therapy. Anti-PD-1 therapy is responsible for immune-related adverse events, with frequent endocrine manifestations, including acute-onset type 1 diabetes. Acquired generalized lipodystrophy (AGL) is a rare disease, believ...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/dc18-2535
更新日期:2019-10-01 00:00:00
abstract:OBJECTIVE:To determine the effect of diabetes on long-term survival after acute myocardial infarction and to compare its effect with that of a previous myocardial infarction. RESEARCH DESIGN AND METHODS:In a prospective cohort study, we followed 1,935 patients hospitalized with a confirmed acute myocardial infarction ...
journal_title:Diabetes care
pub_type: 杂志文章,多中心研究
doi:10.2337/diacare.24.8.1422
更新日期:2001-08-01 00:00:00
abstract::Since 1963 a network of nurse-operated, physician-backed decentralized clinics has provided continuing care for more than 5000 diabetic patients referred from the medical center clinics. Protocols that provide therapy goals and management details are used by the nurses and nutritionists in this network. To reduce frag...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/diacare.3.2.382
更新日期:1980-03-01 00:00:00