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Development of a Multivariable Risk Prediction Tool to Predict Adverse Outcomes among Children with Type 1 Diabetes: A Pilot Study 开发多变量风险预测工具以预测 1 型糖尿病儿童的不良后果:试点研究
IF 3.4 3区 医学 Q1 Medicine Pub Date : 2024-05-20 DOI: 10.1155/2024/8335604
Fiona Lieu, Wrivu N. Martin, Stewart Birt, Joerg Mattes, Richard G. McGee
Background. Children and adolescents with type 1 diabetes mellitus (T1DM) are frequently hospitalised for severe hypoglycaemia, hyperglycaemia, and diabetic ketoacidosis (DKA). While several risk factors have been recognised, clinically identifying these children at high risk of acute decompensation remains challenging. Objective. To develop a risk prediction model to accurately estimate the risk of acute healthcare utilisation due to severe hypoglycaemia, hyperglycaemia, and DKA in children and adolescents with T1DM. Materials and Methods. Using a retrospective dataset, baseline demographic and clinical data were collected from patients (<18 years) seen at a regional paediatric diabetes clinic from 1 January 2018 to 1 January 2020. The outcome was the number of emergency department presentations or hospital admissions for severe hypoglycaemia, hyperglycaemia, and DKA across the study period. Variables that were significant in univariate analysis were entered into a multivariable model. Receiver operator characteristic (ROC) curves assessed the model’s discrimination and generated cut-offs for risk group stratification (low, medium, and high). Kaplan–Meier survival analysis measured time to acute healthcare utilisation across the risk groups. Results. Our multivariable risk prediction model consisted of five predictors (continuous glucose monitoring device, previous acute healthcare utilisation, missed appointments, and child welfare services involvement and socioeconomic status). The model exhibited good discrimination (area under the ROC = 0.81), accurately stratified children into low-, medium-, and high-risk groups, and demonstrated significant differences between median time to healthcare utilisation. Conclusion. Our model identified patients at an increased risk of acute healthcare utilisation due to severe hypoglycaemia, hyperglycaemia, and DKA.
背景。患有 1 型糖尿病(T1DM)的儿童和青少年经常因严重低血糖、高血糖和糖尿病酮症酸中毒(DKA)而住院治疗。虽然已经认识到一些风险因素,但在临床上识别这些急性失代偿高风险儿童仍具有挑战性。目标:建立一个风险预测模型,以准确识别急性失代偿的高危儿童。建立一个风险预测模型,以准确估计 T1DM 儿童和青少年因严重低血糖、高血糖和 DKA 而导致急性医疗服务使用的风险。材料和方法。利用回顾性数据集,收集了2018年1月1日至2020年1月1日期间在一家地区性儿科糖尿病诊所就诊的患者(小于18岁)的基线人口统计学和临床数据。研究结果为整个研究期间因严重低血糖、高血糖和 DKA 而到急诊科就诊或入院的人数。在单变量分析中具有显著性的变量将被纳入多变量模型。受体运算特征曲线(ROC)评估了模型的区分度,并生成了风险组分层(低、中、高)的临界值。卡普兰-梅耶生存分析测量了各风险组急诊就医的时间。结果。我们的多变量风险预测模型由五个预测因素组成(连续血糖监测设备、既往急性病就医情况、失约、儿童福利服务参与情况和社会经济状况)。该模型具有良好的区分度(ROC 下面积 = 0.81),能准确地将儿童分为低、中、高风险组,并显示出医疗服务使用时间中位数之间的显著差异。结论我们的模型能识别因严重低血糖、高血糖和 DKA 而导致急性医疗服务使用风险增加的患者。
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引用次数: 0
Associations of Area-Level and Parental Individual-Level Social Deprivation with Glycemic Control over Time among Children with Type 1 Diabetes in France: A Longitudinal Cohort Study 法国 1 型糖尿病儿童中地区层面和父母个人层面的社会贫困与血糖控制随时间变化的关系:纵向队列研究
IF 3.4 3区 医学 Q1 Medicine Pub Date : 2024-05-20 DOI: 10.1155/2024/9634867
Isaline Morard, Pascal Barat, M. Bailhache
Background. Poor glycemic control in patients with type 1 diabetes (T1D) is associated with greater social deprivation. However, the evidence is inconsistent in terms of the type of social deprivation (individual-level or area-level) and whether glycemic control changes over time. Here, we investigated the impacts of individual-level and area-level social deprivation on the glycated hemoglobin (HbA1c) trajectory from the time of T1D diagnosis. Materials and Methods. We retrospectively analyzed a cohort of children who were diagnosed with T1D between 2017 and 2020 at Bordeaux University Hospital. Social deprivation was assessed using both parental individual indicator (EPICES score) and ecological indicator (European Deprivation Index (EDI) score). Piecewise linear mixed-effects models were used to estimate the effects of social deprivation on HbA1c trajectory. Results. We included 168 patients. The most-deprived group included 29% and 22% of all patients, as revealed by the respective EPICES and EDI scores. The two indicators were poorly correlated. The short-term decrease in HbA1c level tended to be smaller in the most-deprived patients over the first 4 months after diagnosis than in other patients (slope difference of 2.68% per year compared with the slope among the least-deprived patients, P=0.056). The long-term trajectory was influenced by area-level deprivation (EDI score); the least-deprived patients (quintile 1) exhibited more stable mean HbA1c levels. Conclusions. Social deprivation may partially explain poor glycemic control in some patients; both short-term individual deprivation and long-term area-level deprivation may be involved. Further research is needed to determine how to integrate this information into a therapeutic strategy.
背景。1 型糖尿病(T1D)患者血糖控制不佳与社会贫困程度较高有关。然而,关于社会贫困的类型(个人层面或地区层面)以及血糖控制是否会随时间发生变化,证据并不一致。在此,我们研究了从 T1D 诊断开始,个人层面和地区层面的社会贫困对糖化血红蛋白(HbA1c)轨迹的影响。材料与方法。我们对波尔多大学医院 2017 年至 2020 年期间确诊为 T1D 的儿童队列进行了回顾性分析。社会贫困程度通过父母个人指标(EPICES评分)和生态指标(欧洲贫困指数(EDI)评分)进行评估。采用片断线性混合效应模型估算社会贫困对 HbA1c 变化轨迹的影响。结果我们纳入了 168 名患者。根据 EPICES 和 EDI 评分,最贫困组分别占所有患者的 29% 和 22%。这两项指标的相关性很低。与其他患者相比,最贫困患者的 HbA1c 水平在确诊后 4 个月内的短期下降幅度往往较小(与最不贫困患者的斜率相比,每年的斜率差异为 2.68%,P=0.056)。长期轨迹受地区贫困程度(EDI 评分)的影响;最贫困患者(五分位数 1)的平均 HbA1c 水平更为稳定。结论社会贫困可能是某些患者血糖控制不佳的部分原因;短期的个人贫困和长期的地区贫困可能都与此有关。如何将这些信息纳入治疗策略还需要进一步研究。
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引用次数: 0
Adolescents and Young Adults with Type 1 Diabetes Present Changes in Arterial Compliance and Resistance and Increased Arterial Stiffness 1 型糖尿病青少年患者的动脉顺应性和阻力发生变化,动脉僵硬度增加
IF 3.4 3区 医学 Q1 Medicine Pub Date : 2024-04-17 DOI: 10.1155/2024/9919121
Igor A. Carvalho-Ribeiro, Letícia C. F. Cunha, Lorena R. Ribeiro, Matheus N. Lima, Breno A. Ferreira-Silva, Juliana S. Rajão, J. C. Bittencourt, Juliana F. A. Pinheiro, M. Rodrigues-Machado
Introduction. Cardiovascular disease (CVD) is highly prevalent in patients with type 1 diabetes (T1DM) and is responsible for a significant reduction in life expectancy. Objective. To compare the arterial stiffness indices, arterial compliance and vascular resistance assessed centrally and peripherally between healthy adolescents and young adults (CTRL group) and those with T1DM. Methods. This is an observational cross-sectional study involving 90 adolescents and young adults, with half of them being considered healthy (n = 45) and the other half with T1DM (n = 45), matched by age and sex. Cardiovascular parameters were evaluated using the oscillometric method of brachial artery pressure assessment for a noninvasive estimation of central arterial pressures. Results. Weight and body mass index were significantly higher in the T1DM group. AIx@75 was significantly higher in the T1DM group (24.96% ± 8.88%) compared to the CTRL (20.16% ± 9.95%). Peripheral and central arterial compliance were significantly lower in the T1DM group (0.79 ± 0.21; 1.16 ± 0.27 ml/m2/mmHg) compared to the CTRL (0.98 ± 0.32; 1.47 ± 0.61 ml/m2/mmHg). Peripheral and central vascular resistance were significantly higher in the T1DM group (1.32 ± 0.32; 0.91 ± 0.21 mmHg/ml/m2) compared to the CTRL (1.11 ± 0.30; 0.75 ± 0.22 mmHg/ml/m2). Conclusion. Our data confirm premature aging of the vascular system in adolescents and young adults with T1DM and extend our knowledge by showing important changes in central and peripheral hemodynamics indices.
导言。心血管疾病(CVD)在 1 型糖尿病(T1DM)患者中发病率很高,是导致预期寿命显著缩短的原因之一。研究目的比较健康青少年和年轻人(CTRL 组)与 T1DM 患者在中心和外周评估的动脉僵化指数、动脉顺应性和血管阻力。研究方法这是一项横断面观察研究,涉及 90 名青少年,其中一半被认为是健康人(45 人),另一半是 T1DM 患者(45 人),年龄和性别均匹配。心血管参数的评估采用肱动脉压力评估的示波法,对中心动脉压力进行无创估测。结果显示T1DM组的体重和体重指数明显高于T1DM组。T1DM组的AIx@75(24.96% ± 8.88%)明显高于CTRL组(20.16% ± 9.95%)。T1DM 组的外周和中心动脉顺应性(0.79 ± 0.21; 1.16 ± 0.27 ml/m2/mmHg)明显低于 CTRL 组(0.98 ± 0.32; 1.47 ± 0.61 ml/m2/mmHg)。T1DM 组的外周和中央血管阻力(1.32 ± 0.32; 0.91 ± 0.21 mmHg/ml/m2)明显高于 CTRL 组(1.11 ± 0.30; 0.75 ± 0.22 mmHg/ml/m2)。结论我们的数据证实了患有 T1DM 的青少年和年轻人血管系统的过早老化,并通过显示中心和外周血液动力学指数的重要变化扩展了我们的知识。
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引用次数: 0
Complications during Adolescence Predict Mortality in Young Adults with Childhood Onset Type 1 Diabetes 青春期并发症可预测儿童期发病的 1 型糖尿病患者的死亡率
IF 3.4 3区 医学 Q1 Medicine Pub Date : 2024-04-12 DOI: 10.1155/2024/8194756
Myra S. Poon, Albert K Chan, Janine M. Cusumano, Maria E. Craig, K. Donaghue
Objective. Microvascular complications increase the risk of cardiovascular disease and premature death in adults with type 1 diabetes. We examined the association between microvascular complications during adolescence, including cardiac autonomic nerve dysfunction and subsequent mortality. Research Design and Methods. We undertook data linkage with the Australian National Death Index in a cohort of 409 adolescents (diagnosed between 1973 and 1993), 48% male, median age at final complications assessment 17.4 years (interquartile range: 16.0–18.9), followed longitudinally for median 22.3 years (21.0–23.4) from diagnosis. Generalized estimating equations (GEE) were used to examine associations between mortality and adolescent complications. Mortality risk was calculated as standardized mortality ratio (SMR). Results. At final adolescent visit, 20% had CAN abnormality, 30% abnormal pupillary response, 20% albuminuria, 40% early elevation of albumin excretion rate (AER) and 45% retinopathy. Data linkage 8–13 years later showed 14 were deceased (3% of cohort), 57% male, median age 28.3 years (24.8–32.9). Acute or chronic diabetes complications accounted for 25% of deaths. In multivariable GEE, elevated AER (OR 4.54, 1.23–16.80, p=0.030), pupillary abnormality (OR 4.27, 1.20–15.22, p=0.023), systolic blood pressure SDS (OR 2.17, 1.26–3.74, p=0.005) and CAN (OR 4.65, 1.03–21.0, p=0.045) predicted mortality. HbA1c was not significant. SMR was 2.5 (1.4–4.2) and was higher in females (SMR 3.5, 1.3–7.8) but not in males (SMR 2.1, 0.9–4.0). Conclusion. Mortality in young adults with type 1 diabetes is predicted by subclinical markers of autonomic neuropathy and elevated AER during adolescence, but not glycemia. Mortality was over twice that of the background population in females but not in males.
目的。微血管并发症会增加 1 型糖尿病成人患者罹患心血管疾病和过早死亡的风险。我们研究了青春期微血管并发症(包括心脏自主神经功能障碍)与后续死亡率之间的关系。研究设计与方法。我们与澳大利亚国家死亡指数进行了数据链接,共收集了 409 名青少年(1973 年至 1993 年间确诊)的数据,其中 48% 为男性,最终并发症评估的中位年龄为 17.4 岁(四分位数间距:16.0-18.9),自确诊起纵向随访的中位年龄为 22.3 岁(21.0-23.4)。研究人员使用广义估计方程(GEE)来检验死亡率与青少年并发症之间的关系。死亡率风险按标准化死亡率(SMR)计算。结果。在青少年最后一次就诊时,20%的人有CAN异常,30%的人有瞳孔反应异常,20%的人有白蛋白尿,40%的人有白蛋白排泄率(AER)早期升高,45%的人有视网膜病变。8-13 年后的数据连接显示,有 14 人死亡(占队列的 3%),57% 为男性,中位年龄为 28.3 岁(24.8-32.9 岁)。急性或慢性糖尿病并发症占死亡人数的 25%。在多变量 GEE 中,AER 升高(OR 4.54,1.23-16.80,p=0.030)、瞳孔异常(OR 4.27,1.20-15.22,p=0.023)、收缩压 SDS(OR 2.17,1.26-3.74,p=0.005)和 CAN(OR 4.65,1.03-21.0,p=0.045)可预测死亡率。HbA1c 无显著影响。SMR为2.5(1.4-4.2),女性较高(SMR为3.5,1.3-7.8),男性较低(SMR为2.1,0.9-4.0)。结论1型糖尿病青壮年患者的死亡率可由自律神经病变的亚临床标志物和青春期升高的AER预测,但与血糖无关。女性的死亡率是背景人群的两倍多,而男性则不是。
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引用次数: 0
Excess Mortality in an Inception Cohort of Childhood Diabetes Diagnosed 1990–2010 1990-2010 年诊断的儿童糖尿病初始队列中的超额死亡率
IF 3.4 3区 医学 Q1 Medicine Pub Date : 2024-03-29 DOI: 10.1155/2024/1844752
S. Lain, Lindsay Stevens, Maria E. Craig, Alicia J. Jenkins, Kirstine J. Bell, Alison Pryke, K. Donaghue, Natasha Nassar
Objective. Evaluate the mortality risk of childhood-onset type 1 diabetes compared to the general population. Research Design and Methods. The study population, identified from the Australasian Paediatric Endocrinology Group diabetes register, was diagnosed with type 1 diabetes at age < 16 in New South Wales (NSW), Australia, from 1990 to 2010. The register was linked to National Death Index registrations to ascertain timing and cause of death up to 31/12/2022. Risk factors for mortality were assessed using multivariable Cox regression models and observed mortality rate compared to “expected” rates in the Australian general population using indirect-standardized mortality ratios (SMR), overall and by sex and age at diagnosis. Diabetes-related cause of death categories were identified. Results. Of 5,417 children diagnosed with type 1 diabetes, 157 subsequently died, with all-cause mortality of 1.37/1,000 person years. Increased mortality risk was associated with living in most disadvantaged areas (aHR 1.81 (1.05, 3.11)) but not living in a rural area. Overall SMR was 2.83 (95% CI 2.40, 3.33) with females having higher SMR than males (4.18 vs. 2.19). Most common causes of death recorded were acute diabetes complications (26%), including diabetes ketoacidosis, accident/misadventure (21%), and chronic diabetes complications (15%). Alcohol and/or drug use contributed to 17% of deaths. Conclusion. Compared to the general population, higher risk of mortality in people with type 1 diabetes was associated with female sex and living in area of socioeconomic disadvantage. Education about minimizing risk-taking behaviors should be communicated to young adults with type 1 diabetes.
目标:评估儿童期发病的 1 型糖尿病患者与普通人群相比的死亡风险。评估儿童期发病的 1 型糖尿病患者与普通人群相比的死亡风险。研究设计与方法。研究对象来自澳大拉西亚儿科内分泌学组糖尿病登记册,均为1990年至2010年期间在澳大利亚新南威尔士州(NSW)被诊断为小于16岁的1型糖尿病患者。该登记册与国家死亡指数登记相链接,以确定截至 2022 年 12 月 31 日的死亡时间和原因。使用多变量 Cox 回归模型评估了死亡风险因素,并使用间接标准化死亡率 (SMR) 将观察到的死亡率与澳大利亚普通人群的 "预期 "死亡率进行了比较,包括总体死亡率以及按性别和诊断时年龄划分的死亡率。确定了与糖尿病相关的死因类别。结果。在 5417 名确诊为 1 型糖尿病的儿童中,有 157 人随后死亡,全因死亡率为 1.37/1,000 人年。死亡风险的增加与居住在最贫困地区有关(aHR 1.81 (1.05, 3.11)),但与居住在农村地区无关。总体 SMR 为 2.83(95% CI 2.40,3.33),女性的 SMR 比男性高(4.18 对 2.19)。最常见的死亡原因是急性糖尿病并发症(26%),包括糖尿病酮症酸中毒、意外/不幸(21%)和慢性糖尿病并发症(15%)。酗酒和/或吸毒导致的死亡占 17%。结论与普通人群相比,1型糖尿病患者的死亡风险较高与女性性别和生活在社会经济条件较差的地区有关。应向年轻的1型糖尿病成人患者宣传尽量减少冒险行为的教育。
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引用次数: 0
The Prevalence and Associated Factors of Impaired Fasting Glucose among Children and Adolescents in Urban China: A Large-Scale Cross-Sectional Study 中国城市儿童和青少年空腹血糖受损的患病率及相关因素:大规模横断面研究
IF 3.4 3区 医学 Q1 Medicine Pub Date : 2024-03-15 DOI: 10.1155/2024/6701192
Fenglian Huang, Zong Lin, Yeling Lu, Yueqin Zhou, Lewei Zhu, Xiaotong Wang, Yanna Zhu
This study aimed to investigate the level of fasting plasma glucose (FPG), the prevalence of impaired fasting glucose (IFG), and the associated factors among children and adolescents in urban China. Based on a cross-sectional study conducted in three Chinese metropolises during 2013–2014, this analysis included 7,143 participants aged 7–18 years. Information on demographics, family environment, diet, and physical activity was collected by questionnaires. Anthropometric parameters and blood biochemical indicators were measured. Logistic regression models were applied to assess risk factors of glucose level. Results revealed that the average FPG level was 4.81 ± 0.53 mmol/L, and the prevalence of IFG was 3.3%. Trends of these two variables varied significantly with age increasing (all p<0.001), reaching double peaks at 10–12 and 15–17 years. IFG was positively associated with the male sex, age increasing, obesity, higher triglyceride (TG) levels, and living in northern China. When stratified by sex, family history of diabetes, elevated total cholesterol levels, and higher intake of sugar-sweetened beverages were positively associated with IFG only in females, suggesting these parameters were female-specific risk factors of IFG. We concluded that the prevalence of IFG among children and adolescents aged 7–18 years in urban China was higher than that reported in previous regional studies and was associated with obesity and higher levels of TG. Therefore, sex-specific lifestyle interventions should be provided to promote healthy weight and lipids and stem the upward trend of IFG.
本研究旨在调查中国城市儿童和青少年的空腹血浆葡萄糖(FPG)水平、空腹血糖受损(IFG)患病率及其相关因素。本分析基于 2013-2014 年期间在中国三个大都市开展的一项横断面研究,共纳入 7143 名 7-18 岁的参与者。通过问卷调查收集了有关人口统计学、家庭环境、饮食和体育锻炼的信息。测量了人体测量参数和血液生化指标。采用逻辑回归模型评估血糖水平的风险因素。结果显示,平均 FPG 水平为 4.81 ± 0.53 mmol/L,IFG 患病率为 3.3%。这两个变量的变化趋势随着年龄的增长而显著变化(均 p<0.001),在 10-12 岁和 15-17 岁时达到双高峰。IFG与男性、年龄增长、肥胖、甘油三酯(TG)水平较高以及居住在中国北方呈正相关。按性别分层后,糖尿病家族史、总胆固醇水平升高和含糖饮料摄入量增加仅与女性的 IFG 呈正相关,表明这些参数是女性特有的 IFG 风险因素。我们的结论是,中国城市 7-18 岁儿童和青少年的 IFG 患病率高于以往地区性研究的报道,且与肥胖和较高的总胆固醇水平有关。因此,应针对不同性别采取不同的生活方式干预措施,以促进健康体重和血脂,阻止 IFG 的上升趋势。
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引用次数: 0
A Late Meal Timing Pattern Is Associated with Insulin Resistance in European Children and Adolescents 欧洲儿童和青少年进餐时间过晚与胰岛素抵抗有关
IF 3.4 3区 医学 Q1 Medicine Pub Date : 2024-03-01 DOI: 10.1155/2024/6623357
T. Intemann, L. Bogl, M. Hunsberger, F. Lauria, S. De Henauw, Dénes Molnár, Luis A. Moreno, M. Tornaritis, T. Veidebaum, Wolfgang Ahrens, A. Hebestreit
Meal timing has been associated with metabolic markers in adults, but not in children or adolescents. The aim of this study was to investigate associations of meal timing patterns (MTPs) with insulin resistance (IR) and triglyceride levels in children and adolescents. In this cross-sectional study, we included 2,195 participants aged 8–15 years from the European I.Family study (2013/14). Habitual diet exposures were derived using 24-hr dietary recalls and HOMA-IR, HbA1c, and triglycerides were used as metabolic outcome variables. We applied k-means cluster analysis on five dietary exposures (energy proportion in the morning and evening, eating window, pre-sleep fasting and eating frequency), which revealed the following three MTPs: “early-often”, “late-long” and “late-infrequent-short”. We used linear mixed models to estimate the associations between MTPs and the z-scores of the metabolic outcome variables. The association analysis revealed differences between MTPs in HOMA-IR but not in HbA1c or triglyceride z-scores. The “late-infrequent-short” pattern was associated with a 0.19 (95%-CI: (0.01, 0.36)) higher HOMA-IR z-score compared to the “early-often” pattern in the model adjusted for age, BMI z-score, education, sex, country, and family membership. These findings suggest that the timing of meals may influence IR already in childhood and adolescence. Therefore, the time of meals should be considered in future nutrition research and dietary advice for children and adolescents.
进餐时间与成人的代谢指标有关,但与儿童或青少年的代谢指标无关。本研究旨在调查儿童和青少年的进餐时间模式(MTP)与胰岛素抵抗(IR)和甘油三酯水平之间的关系。在这项横断面研究中,我们纳入了欧洲 I.Family 研究(2013/14 年)中 2195 名 8-15 岁的参与者。通过 24 小时饮食回忆得出习惯性饮食暴露,并将 HOMA-IR、HbA1c 和甘油三酯作为代谢结果变量。我们对五种饮食暴露(早晚能量比例、进食窗口期、睡前空腹和进食频率)进行了k-means聚类分析,发现了以下三种MTP:"早-常"、"晚-长 "和 "晚-不常-短"。我们使用线性混合模型来估算 MTP 与代谢结果变量 z 值之间的关联。关联分析表明,MTP 之间在 HOMA-IR 方面存在差异,但在 HbA1c 或甘油三酯 z 值方面没有差异。与 "早-常 "模式相比,"晚-少-短 "模式的 HOMA-IR z 分数高 0.19(95%-CI:(0.01, 0.36))。这些研究结果表明,进餐时间可能会在儿童和青少年时期就对红外产生影响。因此,在未来的营养研究和儿童青少年饮食建议中应考虑进餐时间。
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引用次数: 0
Type 1 Diabetes and Other Autoimmune Disorders in Children 儿童 1 型糖尿病和其他自身免疫性疾病
IF 3.4 3区 医学 Q1 Medicine Pub Date : 2024-02-26 DOI: 10.1155/2024/5082064
E. Grasso, Francesco Chiarelli
The incidence of autoimmune disorders (AIDs) has been dramatically increasing in both children and adults over the past few years, and type 1 diabetes (T1D) is one of the diseases that has seen the highest growth. It is well-known that the dysimmune process may spread to other systems, leading to the onset of one or more AIDs in the same individual; however, the relationship between AIDs is not often recognized. The most frequently diagnosed AIDs in children and adolescents with T1D are thyroid diseases and celiac disease, but it is also important to consider the onset of the other conditions, such as juvenile idiopathic arthritis, multiple sclerosis, atrophic gastritis, inflammatory bowel diseases, and skin disorders such as vitiligo and psoriasis. This review aims to explore the overlap of T1D and other AIDs, focusing on the less common and lesser-known diseases. A better knowledge of these comorbidities may facilitate the identification of patients at risk to treat them in the preclinical period, before the onset of complications.
过去几年来,儿童和成人自身免疫性疾病(AID)的发病率急剧上升,而 1 型糖尿病(T1D)是发病率增长最快的疾病之一。众所周知,免疫失调过程可能会扩散到其他系统,从而导致同一个人患上一种或多种 AIDs;然而,AIDs 之间的关系却并不常见。在患有 T1D 的儿童和青少年中,最常确诊的 AID 是甲状腺疾病和乳糜泻,但考虑其他疾病的发病也很重要,如幼年特发性关节炎、多发性硬化症、萎缩性胃炎、炎症性肠病以及白癜风和银屑病等皮肤疾病。本综述旨在探讨 T1D 与其他艾滋病的重叠问题,重点关注不常见和鲜为人知的疾病。更好地了解这些合并症可能有助于识别高危患者,以便在并发症发生前的临床前期对其进行治疗。
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引用次数: 0
Developing a General Population Screening Programme for Paediatric Type 1 Diabetes: Evidence from a Qualitative Study of the Perspectives and Attitudes of Parents 制定儿童 1 型糖尿病普通人群筛查计划:来自家长观点和态度定性研究的证据
IF 3.4 3区 医学 Q1 Medicine Pub Date : 2024-02-20 DOI: 10.1155/2024/9927027
Lauren M. Quinn, P. Narendran, Kirandeep Bhavra, F. Boardman, Sheila Greenfield, M. Randell, I. Litchfield
Introduction. With reliable tests and preventative treatments now available the United Kingdom has introduced a prototype population-based paediatric (ages 3–13) screening programme for type 1 diabetes (T1D). To aid its ethical and sustainable implementation this work explores parental views around the concept of this programme to determine how their involvement might be encouraged and supported. Research Design and Methods. Qualitative interviews were undertaken with 38 parents and the data were analysed using a purposely developed “Burden of Screening” framework, which presented the data within three domains describing the various elements of screening participation; pre-screening tasks designated to participants; factors influencing engagement with screening; and consequences of screening participation. Results. Regarding pre-screening tasks designated to participants, the importance of clear communication about the condition were apparent with parents expressing uncertainty of the benefits of screening against the potential anxiety engendered. In factors influencing their engagement with screening participants described their preference for less invasive testing techniques, the reassurance of structured support from healthcare professionals inherent within the programme, and the potential benefit of peer support. Regarding the consequences of screening participation parents described how a positive result might lead to overly protective behaviours, and anxiety from watching and waiting for the onset of symptomatic T1D. Conclusions. The benefits of T1D screening need to be clearly communicated to facilitate uptake. To this end the use of decision-support tools and better targeted educational materials should be explored. Post-testing, parents expressed preferences for peer support and access to psychological counselling.
简介。随着可靠的检测和预防性治疗方法的出现,英国推出了一项以人口为基础的 1 型糖尿病(T1D)儿科(3-13 岁)筛查计划原型。为了帮助该计划的道德和可持续实施,本研究探讨了家长对该计划概念的看法,以确定如何鼓励和支持家长参与该计划。研究设计与方法。研究人员对 38 名家长进行了定性访谈,并使用特意制定的 "筛查负担 "框架对数据进行了分析,该框架在三个领域内描述了参与筛查的各种要素、为参与者指定的筛查前任务、影响参与筛查的因素以及参与筛查的后果。结果。关于为参与者指定的筛查前任务,明确告知筛查条件的重要性显而易见,家长对筛查的益处和可能产生的焦虑表示不确定。在影响他们参与筛查的因素中,参与者表示他们更喜欢侵入性较小的检测技术、计划中固有的来自医护人员的结构化支持的保证,以及同伴支持的潜在益处。关于参与筛查的后果,家长们描述了阳性结果可能导致的过度保护行为,以及因观察和等待有症状的 T1D 发病而产生的焦虑。结论。T1D筛查的益处需要明确传达,以促进接受筛查。为此,应探索使用决策支持工具和更有针对性的教育材料。检测后,家长们表示更愿意获得同伴支持和心理咨询。
{"title":"Developing a General Population Screening Programme for Paediatric Type 1 Diabetes: Evidence from a Qualitative Study of the Perspectives and Attitudes of Parents","authors":"Lauren M. Quinn, P. Narendran, Kirandeep Bhavra, F. Boardman, Sheila Greenfield, M. Randell, I. Litchfield","doi":"10.1155/2024/9927027","DOIUrl":"https://doi.org/10.1155/2024/9927027","url":null,"abstract":"Introduction. With reliable tests and preventative treatments now available the United Kingdom has introduced a prototype population-based paediatric (ages 3–13) screening programme for type 1 diabetes (T1D). To aid its ethical and sustainable implementation this work explores parental views around the concept of this programme to determine how their involvement might be encouraged and supported. Research Design and Methods. Qualitative interviews were undertaken with 38 parents and the data were analysed using a purposely developed “Burden of Screening” framework, which presented the data within three domains describing the various elements of screening participation; pre-screening tasks designated to participants; factors influencing engagement with screening; and consequences of screening participation. Results. Regarding pre-screening tasks designated to participants, the importance of clear communication about the condition were apparent with parents expressing uncertainty of the benefits of screening against the potential anxiety engendered. In factors influencing their engagement with screening participants described their preference for less invasive testing techniques, the reassurance of structured support from healthcare professionals inherent within the programme, and the potential benefit of peer support. Regarding the consequences of screening participation parents described how a positive result might lead to overly protective behaviours, and anxiety from watching and waiting for the onset of symptomatic T1D. Conclusions. The benefits of T1D screening need to be clearly communicated to facilitate uptake. To this end the use of decision-support tools and better targeted educational materials should be explored. Post-testing, parents expressed preferences for peer support and access to psychological counselling.","PeriodicalId":19797,"journal":{"name":"Pediatric Diabetes","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2024-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140446236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan 新生儿糖尿病的发病率、表型和基因型:16年的经验。苏丹常见新生儿糖尿病的罕见遗传病因
IF 3.4 3区 医学 Q1 Medicine Pub Date : 2024-02-15 DOI: 10.1155/2024/2032425
Samar S. Hassan, Salwa A. Musa, E. De Franco, Russel Donis Frew, Omer O. Babiker, Ghassan F. Mohamadsalih, Areej A. Ibrahim, Samar Abu Samra, Mohamed A. Abdullah
Neonatal diabetes (ND) is a rare subtype of diabetes occurring in the first 6 months of life. High incidence has been reported among populations with high rates of consanguineous marriage. However, there is paucity of reported data from sub-Saharan African countries. We report the incidence, genotype, and phenotype of ND in a large cohort from Sudan and compare these findings to regional and international data. All infants with onset of diabetes in the first 6 months of life, attending one of the only two tertiary pediatric diabetes centers in Sudan, Gaafar Ibn Auf Pediatric Tertiary Hospital and Sudan Childhood Diabetes Center, during the period of January 2006 to December 2022 were included. Medical records were reviewed for demographic and clinical information. Genetic testing was performed for 48 patients by the Exeter Genomics laboratory in the UK and for one patient by the University of Cambridge, Metabolic Research Laboratories, UK. The estimated incidence was 4.8 per 100,000 live births. Forty-nine ND patients from 45 unrelated families were identified, and a genetic diagnosis was confirmed in 37 patients (75.5%) from 33 unrelated families. Consanguinity was reported in 34 families (75.6%). The commonest genetic cause for permanent neonatal diabetes was EIF2AK3 recessive variants causing Wolcott–Rallison syndrome (18.92%). Pathogenic variants in two recently identified genes, ZNF808 and NARS2, were found in three patients each (8.11%). Activating variants in KCNJ11 and ABCC8 were identified in four (10.81%) and two (5.41%) patients, respectively. Apart from hyperglycemia, the commonest clinical presentations included dehydration, failure to thrive, and diabetic ketoacidosis. ND in Sudan has a different pattern of etiologies compared to Western and Asian populations yet similar to some Arab countries with EIF2AK3 mutations being the commonest cause. Pathogenic variants in recently identified genes reflect the impact of genome sequencing on increasing the rate of genetic diagnosis.
新生儿糖尿病(ND)是一种罕见的亚型糖尿病,发生在婴儿出生后的头 6 个月。据报道,近亲结婚率高的人群发病率高。然而,来自撒哈拉以南非洲国家的报告数据却很少。我们报告了苏丹一个大型队列中 ND 的发病率、基因型和表型,并将这些结果与地区和国际数据进行了比较。我们纳入了 2006 年 1 月至 2022 年 12 月期间在苏丹仅有的两家三级儿科糖尿病中心之一(Gaafar Ibn Auf 儿科三级医院和苏丹儿童糖尿病中心)就诊的所有在出生后 6 个月内患有糖尿病的婴儿。对病历中的人口统计学和临床信息进行了审查。英国埃克塞特基因组实验室对 48 名患者进行了基因检测,英国剑桥大学代谢研究实验室对一名患者进行了基因检测。估计发病率为每 10 万活产 4.8 例。共发现来自 45 个无血缘关系家庭的 49 名 ND 患者,其中来自 33 个无血缘关系家庭的 37 名患者(75.5%)的基因诊断得到确认。有 34 个家庭(75.6%)报告了近亲结婚。永久性新生儿糖尿病最常见的遗传原因是 EIF2AK3 隐性变异导致的 Wolcott-Rallison 综合征(18.92%)。最近发现的两个基因 ZNF808 和 NARS2 中的致病变体各有三名患者(8.11%)。在 4 名患者(10.81%)和 2 名患者(5.41%)中分别发现了 KCNJ11 和 ABCC8 的激活变异。除高血糖外,最常见的临床表现还包括脱水、发育不良和糖尿病酮症酸中毒。苏丹 ND 的病因模式与西方和亚洲人群不同,但与一些阿拉伯国家相似,EIF2AK3 突变是最常见的病因。最近发现的基因中的致病变异反映了基因组测序对提高基因诊断率的影响。
{"title":"Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan","authors":"Samar S. Hassan, Salwa A. Musa, E. De Franco, Russel Donis Frew, Omer O. Babiker, Ghassan F. Mohamadsalih, Areej A. Ibrahim, Samar Abu Samra, Mohamed A. Abdullah","doi":"10.1155/2024/2032425","DOIUrl":"https://doi.org/10.1155/2024/2032425","url":null,"abstract":"Neonatal diabetes (ND) is a rare subtype of diabetes occurring in the first 6 months of life. High incidence has been reported among populations with high rates of consanguineous marriage. However, there is paucity of reported data from sub-Saharan African countries. We report the incidence, genotype, and phenotype of ND in a large cohort from Sudan and compare these findings to regional and international data. All infants with onset of diabetes in the first 6 months of life, attending one of the only two tertiary pediatric diabetes centers in Sudan, Gaafar Ibn Auf Pediatric Tertiary Hospital and Sudan Childhood Diabetes Center, during the period of January 2006 to December 2022 were included. Medical records were reviewed for demographic and clinical information. Genetic testing was performed for 48 patients by the Exeter Genomics laboratory in the UK and for one patient by the University of Cambridge, Metabolic Research Laboratories, UK. The estimated incidence was 4.8 per 100,000 live births. Forty-nine ND patients from 45 unrelated families were identified, and a genetic diagnosis was confirmed in 37 patients (75.5%) from 33 unrelated families. Consanguinity was reported in 34 families (75.6%). The commonest genetic cause for permanent neonatal diabetes was EIF2AK3 recessive variants causing Wolcott–Rallison syndrome (18.92%). Pathogenic variants in two recently identified genes, ZNF808 and NARS2, were found in three patients each (8.11%). Activating variants in KCNJ11 and ABCC8 were identified in four (10.81%) and two (5.41%) patients, respectively. Apart from hyperglycemia, the commonest clinical presentations included dehydration, failure to thrive, and diabetic ketoacidosis. ND in Sudan has a different pattern of etiologies compared to Western and Asian populations yet similar to some Arab countries with EIF2AK3 mutations being the commonest cause. Pathogenic variants in recently identified genes reflect the impact of genome sequencing on increasing the rate of genetic diagnosis.","PeriodicalId":19797,"journal":{"name":"Pediatric Diabetes","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2024-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139776367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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Pediatric Diabetes
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