Abstract:
:The SLC29A3 gene, encoding hENT3, a member of the equilibrative nucleoside transporter family, has recently been found mutated in Faisalabad histiocytosis, pigmented hypertrichotic dermatosis with insulin-dependent diabetes, familial sinus histiocytosis with massive lymphadenopathy (SHML), and H syndromes. We here report clinical and genetic findings of an Egyptian family with H syndrome. We describe two siblings, a 19-yr old girl and a 15-yr old boy, of consanguineous parents. From 5 yr of age, the girl developed bilateral flexion deformity of interphalengeal joints and insulin-dependent diabetes mellitus. At age 7 yr, prominent hyperpigmented patches appeared on the skin at lower limbs, genitalia, and trunk. On clinical examination, she had hepatosplenomegaly, generalized lymphadenopathy, left ventricular hypertrophy, sensorineural hearing loss, hypogonadism, short stature, and characteristic dysmorphic features. Her brother had fixed flexion contractures of the feet, profound sensorineural hearing loss, characteristic dysmorphic features, but no diabetes. DNA sequence analysis revealed a homozygous mutation (c.300+1G>C) in SLC29A3 in both siblings. The phenotype and genotype of the siblings were compatible with that of the H syndrome, although the features were overlapping with those found in pigmented hypertrichotic dermatosis with insulin-dependent diabetes, familial SHML, and Faisalabad histiocytosis, indicating that these four syndromes may be regarded as one disease with varying phenotypic features. A new, common name for these conditions is warranted.
journal_name
Pediatr Diabetesjournal_title
Pediatric diabetesauthors
Elbarbary NS,Tjora E,Molnes J,Lie BA,Habib MA,Salem MA,Njølstad PRdoi
10.1111/j.1399-5448.2012.00925.xsubject
Has Abstractpub_date
2013-09-01 00:00:00pages
466-72issue
6eissn
1399-543Xissn
1399-5448journal_volume
14pub_type
杂志文章abstract:OBJECTIVE:Treatments have failed to delay or stop the autoimmune process, preceding onset of type 1 diabetes. We investigated if autoantigen-specific treatment with alum-formulated glutamate decarboxylase (GAD-Alum) was safe and affected progression to type 1 diabetes in children with islet autoimmunity. METHODS:In an...
journal_title:Pediatric diabetes
pub_type: 杂志文章,随机对照试验
doi:10.1111/pedi.12611
更新日期:2018-05-01 00:00:00
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 determine whether the association between family history of diabetes (FHD) and impaired fasting glucose (IFG) is independent of body mass index (BMI) in children and adolescents. METHODS:In all 443 (11.9%) children and adolescents with FHD, and 3280 (88.1%) without FHD were enrolled in a population-based ...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2009.00590.x
更新日期:2010-08-01 00:00:00
abstract:OBJECTIVE:To investigate the effect of initial insulin dosage on blood glucose (BG) dynamics, β-cell protection, and oxidative stress in type 1 diabetes mellitus. METHODS:Sixty newly diagnosed type 1 diabetes mellitus patients were randomly assigned to continuous subcutaneous insulin infusions of 0.6 ± 0.2 IU/kg/d (gr...
journal_title:Pediatric diabetes
pub_type: 杂志文章,随机对照试验
doi:10.1111/pedi.12374
更新日期:2017-05-01 00:00:00
abstract::Type 1 diabetes mellitus (T1DM) is the archetypal example of a T cell-mediated autoimmune disease characterized by selective destruction of pancreatic β cells. The pathogenic equation for T1DM presents a complex interrelation of genetic and environmental factors, most of which have yet to be identified. On the basis o...
journal_title:Pediatric diabetes
pub_type: 杂志文章,评审
doi:10.1111/pedi.12299
更新日期:2015-11-01 00:00:00
abstract:OBJECTIVE:To compare the aerobic exercise capacity between normal adolescents and those with type 1 diabetes mellitus (T1DM). METHODS:An experimental group with 72 individuals diagnosed with T1DM aged 9--20, time from diagnosis 4.9 +/- 3.6 yr, without clinical cardiopulmonary disease or anemia and a control group (C) ...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-543X.2005.00120.x
更新日期:2005-09-01 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::Neonatal diabetes mellitus is a rare (1/400 000 newborns) but potentially devastating condition, which may be transient or permanent; typical symptoms occur within the first 4 wk of life. The transient form is a developmental insulin production disorder that resolves postnatally. Fifty to 60% of cases can be seen as t...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2006.00201.x
更新日期:2006-10-01 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:Adults with type 2 diabetes mellitus (T2DM) have broad impairments in beta-cell function, including severe attenuation of the first-phase insulin response to glucose, and reduced beta-cell mass. In adolescents with T2DM, there is some evidence that beta-cell dysfunction may be less severe. Our objective was ...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2009.00601.x
更新日期:2010-08-01 00:00:00
abstract:OBJECTIVE:The Environmental Determinants of Diabetes in the Young (TEDDY) study is designed to identify environmental exposures triggering islet autoimmunity and type 1 diabetes (T1D) in genetically high-risk children. We describe the first 100 participants diagnosed with T1D, hypothesizing that (i) they are diagnosed ...
journal_title:Pediatric diabetes
pub_type: 杂志文章,多中心研究
doi:10.1111/pedi.12066
更新日期:2014-03-01 00:00:00
abstract::This review highlights the evidence of linking small for gestational age (SGA) with metabolic/cardiovascular disturbances (dysmetabolic syndrome) in later life. The metabolic and cardiovascular complications associated with in utero undernutrition have been identified during the past 10 yr. Reduced fetal growth is ind...
journal_title:Pediatric diabetes
pub_type: 杂志文章,评审
doi:10.1111/j.1399-543X.2004.00057.x
更新日期:2004-09-01 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::Despite the increased prevalence of type 2 diabetes mellitus (T2DM) in the pediatric population, there is limited information about the relative effectiveness of treatment approaches. This article describes the rationale and design of a National Institutes of Health-sponsored multi-site, randomized, parallel group cli...
journal_title:Pediatric diabetes
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1111/j.1399-5448.2007.00237.x
更新日期:2007-04-01 00:00:00
abstract::The prevalence of youth-onset type 2 diabetes is increasing worldwide in parallel with the obesity epidemic. In India, the age at onset of type 2 diabetes had traditionally been a decade or two earlier compared with the western population. Hence, it is not surprising that the prevalence of youth-onset type 2 diabetes ...
journal_title:Pediatric diabetes
pub_type: 杂志文章,评审
doi:10.1111/j.1399-5448.2007.00328.x
更新日期:2007-12-01 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::Activating mutations in the K(ATP)-channel cause neonatal diabetes mellitus (NDM), and patients have been safely transitioned from insulin to sulfonylureas. We report a male infant with permanent NDM (PNDM), born to a PNDM mother. Blood glucose began to rise on day of life (DOL) 2, and sulfonylurea (glyburide) therapy...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2009.00557.x
更新日期:2010-06-01 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: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:The demands of diabetes care can place substantial burden on youth with type 1 diabetes (T1D), who must manage their treatment in conjunction with the developmentally typical tasks of adolescence. How diabetes affects the normative task of identity development deserves further exploration. METHODS:A sample ...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12932
更新日期:2020-02-01 00:00:00
abstract:INTRODUCTION:Trials in adults have demonstrated that interventions targeting lifestyle are effective in preventing or delaying type 2 diabetes (T2D). To address this need in youth, we developed ENCOURAGE Healthy Families (ENCOURAGE), based on the US Diabetes Prevention Program (DPP). STUDY DESIGN:Here, we present resu...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12692
更新日期:2018-05-20 00:00:00
abstract:OBJECTIVE:To evaluate an ambulatory, portable prototype, overnight automated closed-loop (CL) system and to explore optimal time of CL initiation. METHODS:We performed a randomized crossover study and compared automated overnight glucose control started at the time of an evening-meal or at bedtime. Eight young people ...
journal_title:Pediatric diabetes
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1399-5448.2012.00903.x
更新日期:2012-09-01 00:00:00
abstract:BACKGROUND:While insulin resistance (IR) is associated with specific metabolite signatures in adults, there have been few truly longitudinal studies in healthy children, either to confirm which abnormalities are present, or to determine whether they precede or result from IR. Therefore, we investigated the association ...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12884
更新日期:2019-11-01 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: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 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:Health inequities persist in youth and young adults (YYA) with type 1diabetes in achieving optimal glycemic control. The purpose of this study was to assess the contribution of multiple indicators of social need to these inequities. RESEARCH DESIGN AND METHODS:Two hundred and twenty two YYA withtype 1 diabet...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.13112
更新日期:2020-12-01 00:00:00
abstract::We report an interesting and unique case of an overweight adolescent with a novel mutation of the maturity-onset diabetes of the young (MODY)3 gene [hepatocyte nuclear factor-1 alpha (HNF-1alpha)] and positive islet cell autoantibodies. The patient is a 17-yr-old Caucasian female, who was diagnosed with type 2 diabete...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/j.1399-5448.2007.00335.x
更新日期:2008-04-01 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:The current study examined how a comprehensive set of variables from multiple domains, including at the adolescent and family level, were predictive of glycemic control in adolescents with type 1 diabetes (T1D). METHODS:Participants included 100 adolescents with T1D ages 10-16 yrs and their parents. Particip...
journal_title:Pediatric diabetes
pub_type: 杂志文章
doi:10.1111/pedi.12331
更新日期:2016-11-01 00:00:00