Diagnóstico y seguimiento de los pacientes con hipotiroidismo congénito diagnosticados por cribado neonatal

The screening program of congenital hypothyroidism (CH) is probably one of the best achievements in paediatrics. Thyroid hormones are essential for brain development and brain maturation that continue through the neonatal period. Hypothyroidism that begins in the first months of life causes irreversible damage to the central nervous system, and is one of the most frequent and preventable causes of mental retardation. As children with congenital hypothyroidism are born with a normal appearance, analytical studies are required to immediately start the appropriate therapy.This article analyses the aims, diagnostic procedures, tests required, aetiology, and differential diagnosis in this disorder. Especially relevant is to perform frequent monitoring to ensure dose adjustments of L-Thyroxine therapy, avoiding infra- or supra-dosing that negatively affects neurosensory functions. Re-evaluation of the aetiology permanent vs transient hypothyroidism is always recommended after 3 years of chronological age.The relevance of this screening program should be widely discussed in paediatrics. The main objective is to avoid cerebral damage in these patients, and has been highly successful and economically beneficial.Other aspects are required to optimise patient outcomes, to perform all the controls according to the recommendations and to include, in the near future, the diagnosis of central hypothyroidism. Implementation of this program is necessary to progress in accordance with current scientific knowledge.     

Defining an optimal time window to screen for hepatoblastoma in children with Beckwith‐Wiedemann syndrome

Patients with Beckwith‐Wiedemann spectrum (BWSp) undergo quarterly alpha‐fetoprotein measurement for hepatoblastoma (HB) screening up to 4 years of age, paralleling the epidemiology of nonsyndromic HB. However, specific data on the timing of HB development in BWSp are lacking. Here we compare the timing of presentation of HBs in BWSp with a control cohort of consecutive HB cases, demonstrating that halving screening duration of screening procedures in BWSp likely will not impact its effectiveness.     

Development of a dietary screening questionnaire to predict excessive weight gain in pregnancy

Excessive gestational weight gain (GWG) is a risk factor for several adverse pregnancy outcomes, including macrosomia. Diet is one of the few modifiable risk factors identified. However, most dietary assessment methods are impractical for use in maternal care. This study evaluated whether a short dietary screening questionnaire could be used as a predictor of excessive GWG in a cohort of Icelandic women. The dietary data were collected in gestational weeks 11–14, using a 40‐item food frequency screening questionnaire. The dietary data were transformed into 13 predefined dietary risk factors for an inadequate diet. Stepwise backward elimination was used to identify a reduced set of factors that best predicted excessive GWG. This set of variables was then used to calculate a combined dietary risk score (range 0–5). Information regarding outcomes, GWG (n = 1,326) and birth weight (n = 1,651), was extracted from maternal hospital records. In total, 36% had excessive GWG (Icelandic criteria), and 5% of infants were macrosomic (≥4,500 g). A high dietary risk score (characterized by a nonvaried diet, nonadequate frequency of consumption of fruits/vegetables, dairy, and whole grain intake, and excessive intake of sugar/artificially sweetened beverages and dairy) was associated with a higher risk of excessive GWG. Women with a high (≥4) versus low (≤2) risk score had higher risk of excessive GWG (relative risk = 1.23, 95% confidence interval, CI [1.002, 1.50]) and higher odds of delivering a macrosomic offspring (odds ratio = 2.20, 95% CI [1.14, 4.25]). The results indicate that asking simple questions about women's dietary intake early in pregnancy could identify women who should be prioritized for further dietary counselling and support.     

产妇年龄对新生儿不良结局影响的回顾性队列研究

目的 探讨不同怀孕年龄单胎妊娠产妇和新生儿不良结局的关系。方法 采用回顾性队列研究的方法,通过截取产科和新生儿科电子病例资料,获得2006年1月至2018年12月复旦大学附属妇产科医院住院单胎妊娠孕妇的社会人口学资料、孕产史及本次妊娠情况。按照分娩年龄不同将产妇分为低龄(<20岁)、适龄(~34岁)和高龄组(≥35岁)。分析各年龄组产妇相关特征的基线和妊娠的新生儿结局的发生率。组间比较采用χ²或Fisher精确检验。采用多自变量logistic回归模型,进行产妇亚组分析,以~34岁组为参考组,对<20、≥35岁组产妇,通过比值比(Crude OR)、调整比值比(Adjusted OR)和95％CI表示各产妇亚组相关的新生儿不良结局的风险。结果 2006至2014年高龄产妇比例6.9%~9.9%,2015、2016、2017和2018高龄产妇的比例分别为13.1%、13.8%、17.6%和19.6%。低龄组、高龄组在流动人口、初产妇、剖宫产比例方面与适龄组相比差异均有统计学意义(P均<0.001)。高龄组较适龄组胎产式为非头位者、不良孕产史、男性新生儿比例增加(P<0.05)。校正后低龄组和高龄组早产儿的发生率分别是适龄组的1.88倍(95%CI:1.34~2.65)和1.31倍(95%CI:1.21~1.42)。低龄组和高龄组中期早产儿的发生率分别是适龄组的2.83倍(95%CI:1.45~5.54)和1.34倍(95%CI:1.13~1.60),低龄组和高龄组晚期早产儿的发生率分别是适龄组的1.75倍(95%CI:1.22~2.51)和1.27倍(95%CI:1.17~1.36)。低龄组和高龄组低出生体重儿的发生率分别是适龄组的2.35倍(95%CI:1.66~3.33)和1.26倍(95%CI:1.16~1.37)。高龄组出生缺陷发生率是适龄组的1.39倍(95%CI:1.20~1.62)。结论 与适龄组相比,高龄组和低龄组产妇增加了早产、中期早产儿、晚期早产儿和低出生体重的风险。对低龄产妇应加强流动人口的管理,定期产检。对高龄产妇,应预防出生缺陷的发生,积极处理妊娠期并发症,加强孕中后期监护,预防围生期感染。本研究结果有助于不同怀孕年龄产妇的产前咨询和管理。     

A Survey on Intelligent Screening for Diabetic Retinopathy

Diabetic retinopathy (DR) is one of the leading causes of vision loss and can be effectively avoided by screening, early diagnosis and treatment. In order to increase the universality and efficiency of DR screening, many efforts have been invested in developing intelligent screening, and there have been great advances. In this paper, we survey DR screening from four perspectives: 1) public color fundus image datasets of DR; 2) DR classification and related lesion-extraction approaches; 3) existing computer-aided systems for DR screening; and 4) existing issues, challenges, and research trends. Our goal is to provide insights for future research directions on DR intelligent screening.     

Tei指数评估妊娠期糖尿病胎儿及其出生后整体心功能的价值

【】目的 探讨Tei指数评估妊娠期糖尿病(GDM)胎儿及其出生后整体心功能的价值。 方法 选取2015年1月-2016年6月我院收治的47例GDM血糖控制不良孕妇(A组)、55例GDM血糖控制良好孕妇(B组)、70例正常妊娠产妇(C组)作为研究对象,所有孕妇均为单胎妊娠。在入组时、分娩后1-7d、分娩后2-3月,采用多普勒超声心动图检测胎儿的左心室及右心室Tei指数。 结果 入组时、分娩后1-7d、分娩后2-3月,3组胎儿左心室Tei指数、右心室Tei指数相比差异均有统计学意义(P＜0.05)。同一个时间点组间进行比较：A组胎儿左心室Tei指数、右心室Tei指数均显著高于B组、C组胎儿(P＜0.05),B组、C组胎儿之间左心室Tei指数、右心室Tei指数相比差异无统计学意义(P＜0.05)。 结论 积极有效控制血糖可以避免GDM胎儿的心功能受损。血糖控制不良可以损害GDM胎儿心功能,即使胎儿分娩后2-3个月内其心功能仍然处于异常水平。     

Bolus Calculators

Matching meal insulin to carbohydrate intake, blood glucose, and activity level is recommended in type 1 diabetes management. Calculating an appropriate insulin bolus size several times per day is, however, challenging and resource demanding. Accordingly, there is a need for bolus calculators to support patients in insulin treatment decisions. Currently, bolus calculators are available integrated in insulin pumps, as stand-alone devices and in the form of software applications that can be downloaded to, for example, smartphones. Functionality and complexity of bolus calculators vary greatly, and the few handfuls of published bolus calculator studies are heterogeneous with regard to study design, intervention, duration, and outcome measures. Furthermore, many factors unrelated to the specific device affect outcomes from bolus calculator use and therefore bolus calculator study comparisons should be conducted cautiously. Despite these reservations, there seems to be increasing evidence that bolus calculators may improve glycemic control and treatment satisfaction in patients who use the devices actively and as intended.     

Long-term predictors of impaired fasting glucose and type 2 diabetes in subjects with family history of type 2 diabetes: A 12-years follow-up of the Brisighella Heart Study historical cohort

AimTo identify and quantify the role of different risk factors in the long-term development of IFG and T2DM in a rural Italian population sample with family history of T2DM.MethodsWe selected a sample of 1271 adult subjects from among those 1851 consecutively visited during four consecutive Brisighella Heart Study surveys (1996–2008), then selecting those ones with a family history of T2DM. Thus, we obtained a final sample including 545 subjects and for which a full clinical and ematochemistry data set was available.ResultsThe Cox-regression model better predicting the incident IFG and T2DM included age, gender, FPG, TG and SUA. The model best predicting the incident IFG status alone (without T2DM) is very similar to that predicting both IFG and T2DM, including the same predictors. Finally, the model best predicting T2DM (excluding IFG) simply includes FPG, BMI and ALT/AST ratio. Repeating the Cox-regression analysis using BMI as a covariate, TG appears to be also a significant predictor of T2DM (HR 1.018 95% CI 1.009–1.041, p = 0.013).ConclusionIn a sample of subjects with a family history of diabetes the best long-term predictors of IFG are age, gender, FPG, TG and SUA, while those of T2DM are FPG and BMI.