Abstract:
OBJECTIVE:Heterozygous, gain-of-function mutations of the insulin gene can cause permanent diabetes with onset ranging from the neonatal period through adulthood. The aim of our study was to screen for the insulin gene in patients who had been clinically classified as type 1 diabetic but who tested negative for type 1 diabetes autoantibodies. RESEARCH DESIGN AND METHODS:We reviewed the clinical records of 326 patients with the diagnosis of type 1 diabetes and identified seven probands who had diabetes in isolation and were negative for five type 1 diabetes autoantibodies. We sequenced the INS gene in these seven patients. RESULTS:In two patients whose diabetes onset had been at 2 years 10 months of age and at 6 years 8 months of age, respectively, we identified the mutation G(B8)S and a novel mutation in the preproinsulin signal peptide (A(Signal23)S). CONCLUSIONS:Insulin gene mutations are rare in absolute terms in patients classified as type 1 diabetic (0.6%) but can be identified after a thorough screening of type 1 diabetes autoantibodies.
journal_name
Diabetes Carejournal_title
Diabetes careauthors
Bonfanti R,Colombo C,Nocerino V,Massa O,Lampasona V,Iafusco D,Viscardi M,Chiumello G,Meschi F,Barbetti Fdoi
10.2337/dc08-0783subject
Has Abstractpub_date
2009-01-01 00:00:00pages
123-5issue
1eissn
0149-5992issn
1935-5548pii
dc08-0783journal_volume
32pub_type
杂志文章相关文献
DIABETES CARE文献大全abstract:OBJECTIVE:To test the hypothesis that hepatic steatosis is associated with risk factors for type 2 diabetes in overweight and obese youth, mediated by cardiorespiratory fitness. RESEARCH DESIGN AND METHODS:This was a cross-sectional study comparing insulin sensitivity between 30 overweight and obese adolescents with h...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/dc11-1754
更新日期:2012-04-01 00:00:00
abstract:OBJECTIVE:Women with breast cancer and diabetes face worse outcomes than those with breast cancer without diabetes; however, the contribution of comorbidity to these disparities remains unclear. We evaluated the impact of diabetes on receipt of cancer treatments as well as mortality while accounting for other comorbidi...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/dc17-2012
更新日期:2018-04-01 00:00:00
abstract:OBJECTIVE:To study the influence of position changes on 24-h ambulatory blood pressure (ABP) in normotensive or mildly hypertensive normoalbuminuric patients with type 1 diabetes. RESEARCH DESIGN AND METHODS:A cross-sectional evaluation of patients was staged according to the duration of diabetes (DD) and the presence...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/diacare.24.9.1624
更新日期:2001-09-01 00:00:00
abstract:OBJECTIVES:To establish the statistical significance of observed variations over the last decade in the incidence of insulin-dependent diabetes mellitus (IDDM) in the 0- to 19-yr-old age-group and to determine whether incidence has increased in Canterbury, New Zealand. RESEARCH DESIGN AND METHODS:The Canterbury, New Z...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/diacare.15.7.895
更新日期:1992-07-01 00:00:00
abstract:OBJECTIVE:To explore the hypothesis that a relationship exists between free radical activity and abnormalities in hemostasis in NIDDM. RESEARCH DESIGN AND METHODS:The use of the total radical-trapping antioxidant parameter (TRAP) has very recently been proposed to explore the antioxidant property of a plasma and their...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/diacare.20.10.1589
更新日期:1997-10-01 00:00:00
abstract::Chemical test strips for estimating blood glucose have been shown to be reliable, rapid, and convenient when properly used. This study compares a new product, the Ames Visidex (Miles Laboratories, Elkhart, Indiana), and an established product, the Bio-Dynamics Chemstrip bG (Boehringer-Mannheim, Indianapolis, Indiana) ...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/diacare.6.6.536
更新日期:1983-11-01 00:00:00
abstract::It is now possible to virtually normalize ambient blood glucose levels in insulin-dependent diabetic women during pregnancy. Successful programs have been developed that utilize home blood glucose monitoring, physiologic delivery of insulin, and quantitation of caloric intake carefully matched to insulin dosage. The r...
journal_title:Diabetes care
pub_type: 杂志文章,评审
doi:
更新日期:1982-05-01 00:00:00
abstract:OBJECTIVE:N-acetylglucosamine/galactosamine (GlycA) and sialic acid (GlycB) moieties of glycosylated serum proteins are nonspecific measures of inflammation, but conclusive data on their relationship with insulin resistance or insulin secretion are missing. Therefore, we aimed to examine the relation of GlycA, GlycB, a...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/dc16-1569
更新日期:2017-03-01 00:00:00
abstract:OBJECTIVE:To characterize the relationship of subclinical and clinical eating disorders to HbA1c values in women with IDDM. RESEARCH DESIGN AND METHODS:Ninety women with IDDM (18-46 years of age) were recruited from diabetes clinics throughout Connecticut and Massachusetts. Subjects were categorized into one of three ...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/diacare.20.2.182
更新日期:1997-02-01 00:00:00
abstract::OBJECTIVE To assess vital signs, QT intervals, and newly diagnosed cardiovascular disease during severe hypoglycemia in diabetic patients. RESEARCH DESIGN AND METHODS From January 2006 to March 2012, we conducted a retrospective cohort study to assess type 1 and type 2 diabetic patients with severe hypoglycemia at a n...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/dc13-0701
更新日期:2014-01-01 00:00:00
abstract:OBJECTIVE:Because the bovine serum albumin residues 126-144 (ABBOS) have been reported to be responsible for the autoimmune reaction directed against pancreatic islet cells, it was our aim to study the potential survival of the ABBOS epitope during digestion in the gastrointestinal tract. RESEARCH DESIGN AND METHODS:E...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/diacare.20.5.875
更新日期:1997-05-01 00:00:00
abstract:OBJECTIVE:The present study was designed to assess the effect of magnesium plus zinc, vitamins C plus E, and a combination of these micronutrients on nephropathy indexes in type 2 diabetic patients. RESEARCH DESIGN AND METHODS:In a randomized, double-blind, placebo-controlled clinical trial, 69 type 2 diabetic patient...
journal_title:Diabetes care
pub_type: 杂志文章,随机对照试验
doi:10.2337/diacare.28.10.2458
更新日期:2005-10-01 00:00:00
abstract:OBJECTIVE:The structural basis of normoalbuminuric renal insufficiency in patients with type 2 diabetes remains to be elucidated. We compared renal biopsy findings in patients with type 2 diabetes and estimated glomerular filtration rate (eGFR) and measured GFR of <60 mL/min/1.73 m2, associated with either normo-, micr...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/dc12-2572
更新日期:2013-11-01 00:00:00
abstract:OBJECTIVE:Numerous studies have suggested a decreased risk of cancer in patients with diabetes on metformin. Because different comparison groups were used, the effect magnitude is difficult to estimate. Therefore, the objective of this study was to further analyze whether, and to what extent, use of metformin is associ...
journal_title:Diabetes care
pub_type: 杂志文章,多中心研究
doi:10.2337/dc11-0857
更新日期:2012-01-01 00:00:00
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:Transient neonatal diabetes mellitus 1 (TNDM1) is the most common cause of diabetes presenting at birth. Approximately 5% of the cases are due to recessive ZFP57 mutations, causing hypomethylation at the TNDM locus and other imprinted loci (HIL). This has consequences for patient care because it has impact on...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/dc12-0700
更新日期:2013-03-01 00:00:00
abstract::OBJECTIVE To examine the use of mammography and Papanicolaou (Pap) smear among women with diabetes and to identify predictors of adherence to these tests. RESEARCH DESIGN AND METHODS We analyzed data of a nationally representative sample of Spanish women. Diabetes status was self-reported. Screenings were assessed ask...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/dc09-0479
更新日期:2009-08-01 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:OBJECTIVE:Microalbuminuria can reflect the progress of microvascular complications and may be predictive of macrovascular disease in type 2 diabetes. The effect of intensive glycemic control on microalbuminuria in patients in the U.S. who have had type 2 diabetes for several years has not previously been evaluated. RE...
journal_title:Diabetes care
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.2337/diacare.23.10.1478
更新日期:2000-10-01 00:00:00
abstract::Mortality rates of two cohorts of patients with diabetes mellitus are estimated and compared. The Atlanta cohort is defined as all black patients receiving care at the diabetes clinic of Grady Memorial Hospital for the first time during calendar year 1971. The Memphis cohort is defined as all black patients referred f...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/diacare.6.4.341
更新日期:1983-07-01 00:00:00
abstract::Intranasal glucagon can raise blood glucose levels in healthy subjects. The aims of this study were to 1) compare the hyperglycemic effect of intranasal and intramuscular glucagon in healthy subjects and type I (insulin-dependent) diabetes patients during euglycemic conditions and 2) test the efficacy of intranasal an...
journal_title:Diabetes care
pub_type: 临床试验,杂志文章
doi:10.2337/diacare.12.9.604
更新日期:1989-10-01 00:00:00
abstract::In a 10-yr prospective population study 406 subjects who were 70 yr old received an oral glucose tolerance test. Of these subjects 169 were retested at 80. Three sets of diagnostic criteria were evaluated, of which the WHO criteria are recommended for screening studies in this age group. The prevalences of diabetes me...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/diacare.5.6.600
更新日期:1982-11-01 00:00:00
abstract:OBJECTIVE:To examine the relationship between depressive symptoms and the incidence of type 2 diabetes. RESEARCH DESIGN AND METHODS:In 1984, 2,764 male employees of an electrical company in Japan completed a self-administered questionnaire including the Zung Self-Rating Depression Scale (SDS). They were followed for t...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/diacare.22.7.1071
更新日期:1999-07-01 00:00:00
abstract:OBJECTIVE:This multicenter open-label clinical trial compared the efficacy and safety of repaglinide/troglitazone combination therapy, repaglinide monotherapy, and troglitazone monotherapy in type 2 diabetes that had been inadequately controlled by sulfonylureas, acarbose, or metformin alone. RESEARCH DESIGN AND METHO...
journal_title:Diabetes care
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.2337/diacare.23.7.979
更新日期:2000-07-01 00:00:00
abstract::This study examined the effect of age on the posthepatic delivery of oral glucose (PHDG) during steady-state conditions. We used an intravenous-oral modification of the euglycemic insulin-clamp technique to assess PHDG in six men aged 24-39 yr (young) and eight men aged 65-83 yr (old). Each subject underwent two studi...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/diacare.12.6.394
更新日期:1989-06-01 00:00:00
abstract::There is increasing evidence that an ongoing cytokine-induced acute-phase response (sometimes called low-grade inflammation, but part of a widespread activation of the innate immune system) is closely involved in the pathogenesis of type 2 diabetes and associated complications such as dyslipidemia and atherosclerosis....
journal_title:Diabetes care
pub_type: 杂志文章,评审
doi:10.2337/diacare.27.3.813
更新日期:2004-03-01 00:00:00
abstract:OBJECTIVE:To assess the contemporaneous prevalence of diabetic peripheral neuropathy (DPN) in people with type 1 diabetes (T1D) in Scotland and study its cross-sectional association with risk factors and other diabetic complications. RESEARCH DESIGN AND METHODS:We analyzed data from a large representative sample of ad...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/dc19-1582
更新日期:2020-04-01 00:00:00
abstract:OBJECTIVE:To characterize physiologic subtypes of gestational diabetes mellitus (GDM). RESEARCH DESIGN AND METHODS:Insulin sensitivity and secretion were estimated in 809 women at 24-30 weeks' gestation, using oral glucose tolerance test-based indices. In women with GDM (8.3%), defects in insulin sensitivity or secret...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/dc15-2672
更新日期:2016-06-01 00:00:00
abstract:OBJECTIVE:To study the effect of birth weight on risk of type 2 diabetes in the schoolchildren in Taiwan. RESEARCH DESIGN AND METHODS:From 1992 to 1997, all schoolchildren aged 6-18 years were screened for diabetes in Taiwan Province. This cohort consisted of 1,966 patients with diabetes and 1,780 randomly selected su...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/diacare.26.2.343
更新日期:2003-02-01 00:00:00
abstract::To investigate vascular responses in insulin-dependent diabetic patients both with and without retinopathy, we have assessed vasodilation by forearm transcutaneous pO2 measurement after 10 min of ischemia produced by a sphygmomanometer cuff. Diabetic patients with proliferative retinopathy had a delayed vasodilatory r...
journal_title:Diabetes care
pub_type: 杂志文章
doi:10.2337/diacare.7.1.47
更新日期:1984-01-01 00:00:00