共查询到20条相似文献,搜索用时 15 毫秒
1.
Conclusion This case report shows that tracheobronchial stenosis may present in monozygotic twins. The pattern of malformation in twins
differs from cases described previously.
Received: 7 April 1998 / Accepted in revised form: 1 July 1998 相似文献
2.
We describe identical adolescent twin girls who presented with symptoms consistent with type 1 diabetes. Medical work up for evaluation of gastrointestinal symptoms led to a diagnosis of cystic fibrosis (CF) in both. These cases suggest that diabetes can be a presenting symptom of CF in the absence of pulmonary symptomatology. 相似文献
3.
Guan-Yeu Diau Chih-Chun Chu Shyi-Jou Chen Tsi-Chiang Fung Bao-Chien Chang Jung-Hwa Chiang 《Pediatric surgery international》1995,10(8):549-550
This is the second reported case of monozygotic twins in which one baby was normal, but one had agenesis of the left hemidiaphragm (AHD). Associated anomalies were a patent ductus arteriosus and atrial septal defect. The patient died due to persistent fetal circulation with a pulmonary hypertensive crisis. This report examines another rare example that contradicts a genetic etiology of AHD. Autopsy findings are described, along with a review of the literature. 相似文献
4.
We describe 9-year-old monozygotic male twins with a developmental language disorder of the phonologic-syntactic type and
learning difficulties. High-resolution MRI revealed bilateral parieto-temporal grey matter heterotopias in both twins, on
the left more than on the right, and more pronounced in the more affected twin. This suggests a causal relationship between
the heterotopias and the neuropsychological findings in this twin pair.
Conclusion Neuronal migration defects and ensuing focal heterotopias may be causally related to developmental language disorders.
Received: 17 September 1997 / Accepted: 2 March 1998 相似文献
5.
F Sundberg G Forsander A Fasth U Ekelund 《Acta paediatrica (Oslo, Norway : 1992)》2012,101(11):1164-1169
Aim: To examine if children younger than 7 years with type 1 diabetes are less physically active and spend more time sedentary than healthy children. Methods: Using a repeated measures case‐control study design, physical activity (PA) was measured by continuous combined accelerometer and heart rate registration for 7 days at two time points during 1 year (autumn and spring). PA data were expressed as time spent sedentary, in moderate and vigorous intensity PA and total PA. Differences between groups and gender were analysed with mixed linear regression models. In this study there were 24 children (12 girls) with type 1 diabetes mellitus and 26 (14 girls) healthy controls, all younger than 7 years at inclusion. Results: Children with diabetes were less active overall (p = 0.010) and spent 16 min less in moderate‐to‐vigorous PA (p = 0.006). The difference in sedentary time (21 min less) between groups was not significant (p = 0.21). Overall PA (12.1 counts/min per day, p = 0.004) and time in moderate and vigorous PA (16.0 min/day, p = 0.002) was significantly higher in boys than in girls. A significant effect of age was observed. Conclusion: Physical activity is significantly reduced in young children with type 1 diabetes. 相似文献
6.
We report male monocygotic twins with concordant desmoplastic medulloblastoma diagnosed at the age of 20 months. Both tumours
were completely removed. As chromosomal loci 17p13 and 9q31 are frequently altered in medulloblastoma these regions were analysed
in both tumours in detail using restriction fragment length polymorphism and microsatellite analysis. No common aberration
was found. The c-myc gene on chromosome 8q21 was not amplified.
Conclusion Although a common genetic defect has not been found in our patients’ tumours the clinical presentation supports the assumption
of an inherited genetic predisposition to develop medulloblastoma in at least some cases.
Received: 23 November 1995 Accepted: 22 February 1996 相似文献
7.
Blasetti A Chiuri RM Tocco AM Di Sabatino G Chiarelli F Verrotti A 《Journal of pediatric endocrinology & metabolism : JPEM》2012,25(5-6):557-559
We report a rare case of monozygotic (MZ) twins who developed simultaneous onset of type 1 diabetes mellitus (T1DM). Laboratory finding showed similar values of blood sugar, pH, glycosylated hemoglobin, and C-peptide. Urinary sugar and ketones were detected in both. Endocrine and immunological assessment showed similar results. No evidence (clinical or serological) of recent viral or bacterial infection was found. In the 4 years of follow-up, the twins also showed a similar course of disease. Concordance rates for T1DM are high in MZ twins; nevertheless, a simultaneous onset and a similar course of disease are unusual, as well as the HLA allelic variants of our patients. This extraordinary concordance in a pair of MZ twins could be the consequence of a greater environmental similarity or the role of genetic factors other than HLA genes in our twins. 相似文献
8.
OBJECTIVE: To characterize the prodrome, presentation, family history, and biochemical status at diagnosis of type 1 diabetes mellitus (T1D) in children under age 6 years. STUDY DESIGN: This was a retrospective chart review of patients hospitalized at diagnosis with T1D from 1990 to 1999 in a children's hospital. RESULTS: A total of 247 children were hospitalized, 44% of whom presented in diabetic ketoacidosis (DKA). When stratified by 2-year age intervals, only total carbon dioxide (tCO(2)) was significantly lower in the youngest children (P = .02), and the duration of candidiasis was significantly longer in those children presenting in DKA (P = .004). Parents were more likely to recognize symptomatic hyperglycemia in children older than 2 years (P < .0001). Most parents sought care for their child suspecting that the child had diabetes; the other children were diagnosed when presenting with another concern. Only gender and tCO(2) were significantly correlated with hemoglobin A1c (HbA1c); age-adjusted HbA1c was 0.64% higher in girls compared with boys (P = .045), and each 1-mmol/L decrement in tCO(2) increased the age- and gender-adjusted HbA1c by 0.086% (P < .001). CONCLUSIONS: A high proportion of children under age 6 years present critically ill at the diagnosis of T1D. When any of the classic symptoms of diabetes or a yeast infection is present, a serum glucose level should be measured. 相似文献
9.
G Dahlquist A Möllsten B Källén Swedish Childhood Diabetes Study Group 《Acta paediatrica (Oslo, Norway : 1992)》2008,97(4):483-488
Aims: To study the cumulative incidence of hospitalization for severe diabetic vascular complications in childhood onset type 1 diabetes patients with special regards to age at onset and gender.
Methods: The Swedish Childhood Diabetes Register (SCDR) was linked to the Swedish Hospital Discharge Register up to 31 December 2004. The following diagnoses were traced: diabetic kidney disease, myocardial infarction, stroke, lower limb arterial disease and diabetes with multiple complications. Cox proportional hazards survival method was applied with the following covariates: maternal age, birthweight deviation from gestational week standard, age at onset and gender.
Results: Until 31 December 9974 children had been followed for at least 10 years corresponding to 141 839 person years at risk and 103 (7.3 per 1000 person years) had been hospitalized at least once at the maximum duration of follow-up of 26 years. Diabetic kidney disease was the most common cause of hospitalization and 63 patients had more than one diabetic complication. Female gender (RR = 2.02, 95% CI = 1.05–3.89) and age at onset of diabetes (RR = 1.37, 95% CI = 1.20–1.56) were significant risk factors for severe complication.
Conclusions: Hospitalization for severe diabetic complications at a maximum follow-up of 26 years is rather low in Sweden. There is a higher hospitalization rate among females than among males, and also among patients diagnosed with diabetes after 10 years of age than among patients diagnosed before the age of 10 years. 相似文献
Methods: The Swedish Childhood Diabetes Register (SCDR) was linked to the Swedish Hospital Discharge Register up to 31 December 2004. The following diagnoses were traced: diabetic kidney disease, myocardial infarction, stroke, lower limb arterial disease and diabetes with multiple complications. Cox proportional hazards survival method was applied with the following covariates: maternal age, birthweight deviation from gestational week standard, age at onset and gender.
Results: Until 31 December 9974 children had been followed for at least 10 years corresponding to 141 839 person years at risk and 103 (7.3 per 1000 person years) had been hospitalized at least once at the maximum duration of follow-up of 26 years. Diabetic kidney disease was the most common cause of hospitalization and 63 patients had more than one diabetic complication. Female gender (RR = 2.02, 95% CI = 1.05–3.89) and age at onset of diabetes (RR = 1.37, 95% CI = 1.20–1.56) were significant risk factors for severe complication.
Conclusions: Hospitalization for severe diabetic complications at a maximum follow-up of 26 years is rather low in Sweden. There is a higher hospitalization rate among females than among males, and also among patients diagnosed with diabetes after 10 years of age than among patients diagnosed before the age of 10 years. 相似文献
10.
Rapid appearance and onset of action of insulin aspart in paediatric subjects with type 1 diabetes 总被引:2,自引:0,他引:2
The pharmacokinetics of the novel, rapid-acting insulin aspart were compared with those of soluble human insulin following
subcutaneous administration in nine children (aged 6–12 years) and nine adolescents (aged 13–17 years) with stable type 1
diabetes. The study had a randomised, double-blind, two-period crossover design. Each patient received a single subcutaneous
dose of insulin aspart or human insulin (0.15 IU/kg body weight) 5 min before breakfast and the plasma insulin and glucose
concentrations were measured at intervals during the following 5 h. The pharmacokinetic profile of insulin aspart differed
significantly from that of human insulin with a higher mean maximum serum insulin (Cmax ins), 881 ± 321 (SD) pmol/l versus 422 ± 193 pmol/l for human insulin (P < 0.001); and with a shorter median serum insulin t
max ins, 40.0 min (interquartile range: 40–50 min) versus 75.0 min (interquartile range: 60–120 min) for human insulin, (P < 0.001). An age-related effect on Cmax ins and area under the curve (AUC0–5h ins) was observed with higher values in adolescents than in children for both insulin aspart and human insulin. Postprandial
glycaemic control was improved with insulin aspart; the baseline-adjusted ΔCmax glu being lower for insulin aspart compared with human insulin (increase of 7.6 ± 5.1 versus 9.4 ± 4.4 mmol/l respectively, P < 0.05). The incidence of adverse events was similar for the two insulin types.
Conclusion The more rapid onset of action of insulin aspart versus human insulin, previously observed in adults, is confirmed in a paediatric
population with type 1 diabetes.
Received: 30 June 1999 and in revised form: 20 September 1999 and 23 November 1999 /Accepted: 9 December 1999 相似文献
11.
目的:研究1型糖尿病患儿认知功能变化,并探讨其可能的影响因素。方法:选择年龄6~16岁且病程≥1年的32例1型糖尿病患儿为研究对象,采用中国韦氏儿童智力量表对其认知功能进行研究和分析,并应用多元回归分析法探讨认知功能的影响因素。同性别、同年龄健康儿童32例作为对照组。结果:糖尿病组言语智商显著低于对照组(97±15 vs 118±13,P<0.01),总智商亦显著低于对照组(99±15 vs 113±12,P<0.01)。在分测验中,糖尿病组的言语量表中的知识、分类、领悟、算术、词汇量表分低于对照组,差异均有统计学意义(P<0.01)。多元回归分析显示糖尿病儿童的糖化血红蛋白与总智商、言语智商及操作智商呈显著负相关(分别r=-5.64、-7.29、-3.00;均P<0.05)。结论:1型糖尿病可能对患儿言语智商产生影响,进而影响患儿总智商水平。糖化血红蛋白可能为影响糖尿病患儿认知功能的独立危险因素。 相似文献
12.
目的调查初发1型糖尿病患儿酮症酸中毒(DKA)的发生情况。方法以224例初发1型糖尿病患儿为研究对象,进行回顾性分析,分为DKA组和未合并DKA组,各112例。DKA组患儿根据年龄分为≥5岁组(65例)和5岁组(47例),并根据酸中毒情况分为轻度(26例)、中度(29例)、重度(57例)3组。分析DKA发生的影响因素以及不同年龄DKA患儿的临床及实验室特点。结果 224例初发1型糖尿病患儿中最常见的症状为多饮(86.2%)、多尿(78.6%)及体重下降(57.1%)。与未合并DKA患儿比较,DKA组5岁、低收入、父母教育程度高中及以下所占的比例均较高,随机血糖、Hb A1C水平较高,pH、HCO_3~-及C肽水平更低,差异均具有统计学意义(P0.05)。≥5岁组与5岁组的轻、中、重度DKA所占比例的差异无统计学意义(P0.05)。与5岁组相比,≥5岁组DKA患儿的症状持续时间较长,随机血糖较低,HbA1C、C肽水平较高,差异具有统计学意义(P0.05)。结论 1型糖尿病患儿DKA发生率高,DKA的发生与年龄、父母文化程度及家庭收入有关。 相似文献
13.
Sarah E Lawrence Elizabeth A Cummings Danièle Pacaud Andrew Lynk Daniel L Metzger 《Paediatrics & child health》2015,20(1):35-39
Diabetes requiring insulin is increasingly common and likely to impact students in most, if not all, schools. Diabetes and its complications have major personal, social and economic impact, and improved diabetes control reduces the risk of both short- and long-term complications. Evidence shows that more intensive management of diabetes – through frequent blood glucose monitoring, insulin administration with injections and/or insulin pumps, and careful attention to diet and exercise – leads to better control. Since children spend 30 to 35 hours per week at school, effectively managing their diabetes while there is integral to their short- and long-term health. The Canadian Paediatric Society and the Canadian Pediatric Endocrine Group recommend that minimum standards for supervision and care be established across Canada to support children and youth with type 1 diabetes in schools. These recommendations are derived from evidence-based clinical practice guidelines, with input from diabetes care providers from across Canada, and are consistent with the Canadian Diabetes Association’s Guidelines for the Care of Students Living with Diabetes at School. 相似文献
14.
Prevention of loss of b cells in type 1 diabetes is a major goal of current research. Knowledge of the genetic susceptibility, increasing ability to predict who may be at risk, recognition of the potential clinical impact of residual insulin secretion after diagnosis, and development of new immunomodulatory agents have supported an increasing number of clinical trials to prevent b-cell loss. Interventions can be targeted at 3 stages: before the development of autoimmunity (primary prevention), after autoimmunity is recognized (secondary prevention), or after diagnosis when significant numbers of b cells remain (tertiary prevention). Thus far, several agents show promise when given shortly after diagnosis, but no interventions before diagnosis have shown benefit. Knowledge in this area has grown quickly in recent years and will continue to grow rapidly with several international collaborative efforts underway. 相似文献
15.
目的:检测初发1型糖尿病患儿IL-1β、IL-12、IL-18、TNF-α等细胞因子水平,并分析其与感染、起病时间等临床指标相关性。方法:选择初发1型糖尿病患儿33例为病例组,依据外周血白细胞(WBC)水平将33例患儿分为WBC增高组和WBC正常组;另选取健康体检儿童27例为对照组。应用酶联免疫吸附法检测血清IL-1β、IL-12、IL-18、TNF-α等细胞因子水平;同时检测病例组患儿血气pH值、血糖、血乳酸、果糖胺、外周血白细胞及中性粒细胞等各临床指标水平。结果:病例组细胞因子 IL-12水平高于对照组(P<0.001)。病例组IL-18水平与发病时间呈负相关(r=-0.413,P=0.015);中性粒细胞与IL-1β水平呈正相关(r=0.413,P=0.023);外周血WBC与IL-18水平亦呈正相关(r=0.352,P=0.038)。WBC增高组细胞因子IL-1β、IL-12、IL-18水平高于WBC正常组(均P<0.05)。结论:1型糖尿病患儿存在Th1细胞分泌细胞因子紊乱,感染可进一步提高细胞因子的分泌水平,可能推动了早期糖尿病起病过程。 相似文献
16.
Breay W Paty 《Paediatrics & child health》2005,10(1):38-40
Islet transplantation is a method of restoring endogenous insulin secretion in individuals with type 1 diabetes by transplanting insulin-secreting islet cells from cadaveric donor pancreases into eligible recipients. Since 2000, the one-year insulin independence rate observed in islet transplant recipients has risen from less than 10% to approximately 80%. However, the continued requirement for at least two donor pancreases for each islet transplant recipient, the occurrence of suboptimal islet engraftment, the need for chronic immunosuppressive therapy and a decline in islet function over time continue to make this procedure unsuitable for the majority of patients with type 1 diabetes. Despite these challenges, the recent progress in islet transplantation has reinforced the potential of beta cell replacement for the treatment of type 1 diabetes. 相似文献
17.
自身免疫是1型糖尿病发病的重要机制.1型糖尿病自身抗原的发现为疾病的发病机制及临床诊治开拓了视野.胰岛素、谷氨酸脱羧酶65、胰岛细胞瘤相关抗原2等是已发现的1型糖尿病主要的自身抗原.近年来,1型糖尿病自身抗原如嗜铬粒蛋白A、胰岛淀粉样多肽、锌转运体8、胰-十二指肠同源盒因子1备受重视.该文就1型糖尿病自身抗原的研究进展进行综述. 相似文献
18.
1型糖尿病是一种T细胞介导的器官特异性的自身免疫性疾病,从发生自身免疫性损伤到出现临床症状往往需要一个较长的阶段,在发病前期,应用免疫干预阻止胰岛的自身免疫过程,预防或减轻1型糖尿病越来越受到重视.目前针对1型糖尿病的免疫治疗主要包括抗原特异性、抗原非特异性免疫治疗和促进β细胞再生等方面,而联合免疫治疗可以降低不良反应、提高疗效、延长作用时间,为糖尿病免疫治疗提供新的方向. 相似文献
19.
Seven obese African American youth were considered to have died from diabetic ketoacidosis (DKA) due to type 1 diabetes, despite meeting the criteria for hyperglycemic hyperosmolar state and not for DKA. All had previously unrecognized type 2 diabetes, and death may have been prevented with earlier diagnosis or treatment. 相似文献