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Praxismanual mit Protokollen für Ärzte und Hebammen sowie Informationsblättern für werdende Eltern
Diagnostik und Klinisches Management

Abstract

Objectives

While the benefits of diabetes camp programs are well established, minority youth are underrepresented in camp attendance. No research to date has explored barriers to camp attendance or potential disparities in those barriers. Further, little is known about sources families prioritize in seeking diabetes information and support.

Methods

This was a prospective survey of families of children with type 1 diabetes (T1D) using convenience sampling during normally-scheduled clinic visits. Thirty-nine children and their caregivers completed the survey. Results were analyzed for prevalence and mean number of reported barriers, benefits, and diabetes information networks.

Results

Age range was 5–15 years and mean duration of diabetes was 2.9 years (0.4–9y). The most prevalent barriers were location, cost, and concern about sending children to overnight camp. Caregivers had high level of knowledge of camp benefits. Participants reported engaging with the diabetes community through interactions with their diabetes team, Facebook groups, and the JDRF.

Conclusion

Increasing awareness, transportation assistance, and scholarship funding all may increase accessibility of diabetes camps. Diabetes clinic and online or social media groups are both acceptable means of disseminating information about diabetes camp. Further research is indicated to verify if these results are applicable to the larger diabetes community.

Abstract

Objectives

Copeptin, the C-terminal part of arginine-vasopressin, is increased in hypertensive adolescents and closely associated with metabolic syndrome (MS). We aimed to investigate whether serum copeptin can be used to differentiate masked hypertension (MHT) and MS, and the role of sodium intake, natriuretic peptide response and renin-angiotensin-aldosterone system in MHT and MS in obese youth.

Methods

Obese children aged 10–18 years with normal office blood pressure measurements were included. Patients with MHT and normotension and those with MS and non-MS were evaluated separately. Biochemical parameters, copeptin, brain natriuretic peptide (BNP), aldosterone, renin, urine sodium, and protein were evaluated. Echocardiography, fundoscopic examination, and ambulatory blood pressure monitoring were performed.

Results

There were 80 (M/F=39/41) obese patients with a mean age of 13.78 ± 1.93 years. The cases with MHT, MS, and concomitant MHT and MS were 53,24, and 13%, respectively. Copeptin levels were similar among patients with and without MHT or MS (p>0.05). However, multivariate analysis revealed that copeptin significantly increased the probability of MHT (OR 1.01, 95% CI=1.001–1.018, p=0.033). Copeptin was positively correlated with daytime systolic and diastolic load, aldosterone, BNP, and urine microalbumin/creatinine levels (p<0.05). Linear regression analyses revealed that copeptin was significantly correlated with BNP regardless of having MHT or MS in obese youth. In the MHT group, 24-h sodium excretion was not significantly correlated with BNP.

Conclusion

Copeptin may be a beneficial biomarker to discriminate MHT, but not MS in obese children and adolescents. An insufficient BNP response to sodium intake might be one of the underlying causes of MHT in obese cases.

Abstract

Objectives

Determine the intake and percentage of adequacy of macronutrients and their association with cardiovascular risk factors in a sample of Colombian schoolchildren.

Methods

Cross-sectional study nested in a prospective population-based cohort in schoolchildren between 6 and 10 years of age; cardiovascular risk markers and anthropometric measures were measured. Macronutrient intake was established through a food consumption frequency questionnaire (FFQ). The percentage of adequacy was evaluated by comparison with the dietary reference intakes (DRI) and the recommendations for energy and nutrient intake (RIEN) for the Colombian population. Linear regression analysis was performed to assess the association between daily macronutrient/energy intake and cardiometabolic risk factors.

Results

A total of 1,282 school children (51.09% boys and 48.91% girls; mean age 8.4 ± 1.4 years). The percentage of energy adequacy was 107% (Q1=87.5; Q3=127.2). The macronutrients in overadequacy were proteins and carbohydrates. The total fiber had a low adequacy around 26.0% (Q1=15.8; Q3=38.6). Fat intake was positively associated with BMI, insulin, and HOMA-IR index, while carbohydrate consumption was related to these same factors, although negatively in tight models.

Conclusions

Schoolchildren in this study had an inadequate protein, carbohydrate, and fiber intake. The results suggest a significant positive and negative relationship between the consumption of both fat and carbohydrates and cardiometabolic risk factors such as BMI, insulin levels, and HOMA-IR.

Abstract

Objectives

Monogenic diabetes includes a group of heterogeneous diabetes types. We aimed to identify the frequency, clinical and molecular features of monogenic diabetes in a Korean pediatric cohort.

Methods

A retrospective cohort and multicenter study of Korean children suspected to have monogenic diabetes, managed by four pediatric endocrine centers in the southeast region of South Korea, from February 2016 to February 2020. We recruited 27 pediatric Korean patients suspected to have monogenic diabetes who had at least two of the following three criteria (age at diagnosis, family history, and clinical presentation). Targeted exome sequencing was conducted in these patients. The functional consequences of the variants were predicted by bioinformatics and protein structure analysis.

Results

Molecular genetic analysis identified 16 patients (59.3%) with monogenic diabetes. We identified a total of eight unique variants, including five novel variants (HNF4A c.1088C>T, CEL c.1627C>T and c.1421C>T, PAX4 c.538+8G>C, INS c.71C>T). We also identified two potential candidate gene variants for monogenic diabetes, namely c.650T>C in the SLC2A2 gene and c.629G>A in the PTF1A gene. Other variants were identified in the WFS1and NPHP3 genes in two rare genetic disorders. Variant-positive individuals had a lower presence of autoantibody positivity at the time of diagnosis and higher glycosylated hemoglobin levels at last follow-up when compared to variant-negative patients (p<0.001 and p=0.029, respectively).

Conclusions

These results further expand the spectrum of known variants as well as potential candidate gene variants associated with monogenic diabetes in Korea.

Abstract

Objective

3-M syndrome is characterized by severe short stature, syndromic features, and characteristic radiographic findings. Growth hormone (GH) has been used with variable success. Recombinant human insulin like growth factor-1 (rhIGF-1) has never been utilized.

Case presentation

We describe a child with severe growth retardation, macrocephaly, and skeletal abnormalities with evidence of GH insensitivity subsequently treated with rhIGF-1. He developed morbid obesity and comorbidities including voracious appetite, acanthosis nigricans, tonsillar hypertrophy, and severe obstructive sleep apnea with minimal height improvement. Genetic testing done at 11.5 years revealed a compound heterozygous mutation (c.2112G>A(p.W704X) and c.2559delC) in the CUL7 gene consistent with 3-M syndrome-1. rhIGF-1 therapy was discontinued.

Conclusions

This case highlights the novel use of rhIGF-1 therapy on a child with 3-M syndrome-1 with minimal height benefit but accelerated weight gain and serves as a reminder of the importance of re-evaluating therapy efficacy and side effect profile.

Abstract

Objectives

Idiopathic short stature (ISS) is a recognized, albeit a controversial indication for treatment with recombinant human growth hormone (rhGH).

The objective of the present study was to conduct a systematic review of the literature and meta-analyses of selected studies about the use of rhGH in children with ISS on linear growth and adult height (AH).

Methods

A systematic literature search was conducted to identify relevant studies published till February 28, 2017 in the following databases: Medline (PubMed), Scopus and Cochrane Central Registry of Controlled Trials. After exclusion of duplicate studies, 3,609 studies were initially identified. Of those, 3,497 studies were excluded during the process of assessing the title and/or the abstract. The remaining 112 studies were evaluated further by assessing the full text; 21 of them fulfilled all the criteria in order to be included in the current meta-analysis.

Results

Children who received rhGH had significantly higher height increment at the end of the first year, an effect that persisted in the second year of treatment and achieved significantly higher AH than the control group. The difference between the two groups was equal to 5.3 cm (95% CI: 3.4–7 cm) for male and 4.7 cm (95% CI: 3.1–6.3 cm) for female patients.

Conclusion

In children with ISS, treatment with rhGH improves short-term linear growth and increases AH compared with control subjects. However, the final decision should be made on an individual basis, following detailed diagnostic evaluation and careful consideration of both risks and benefits of rhGH administration.

Abstract

Objectives

Treatment of children with Hashimoto thyroiditis (HT) and particularly of those with coexistent diabetes mellitus type 1 (TIDM) and normal/mildly elevated serum TSH is controversial. The aim of the study was to evaluate the natural course of HT in children with TIDM compared with children with no other coexistent autoimmunity and investigate for possible predictive factors of thyroid function deterioration.

Methods

Data from 96 children with HT, 32 with T1DM (23 girls, nine boys) mean (sd) age: 10.6 (2.3) years, and 64 age and sex-matched without T1DΜ (46 girls, 18 boys), mean (sd) age: 10.2 (2.9) years were evaluated retrospectively. They all had fT4 and TSH values within normal ranges and available data for at least three years’ follow-up.

Results

During the follow-up period, 11 children (34.4%) with TIDM exhibited subclinical hypothyroidism and two children (6.2%) progressed to overt hypothyroidism compared to 12 (18.8%) and two (3.1%) among children without TIDM, respectively. Among children with HT, a higher percentage (40.6%) of children with T1DM progressed to subclinical or overt hypothyroidism, compared with children (21.9%) with similar characteristics but without TIDM or other coexistent autoimmunity.

Conclusions

The annual conversion rate from euthyroidism to hypothyroidism in children with T1DM was significantly higher compared to sex and age-matched children without TIDM. Prospective randomized trials are needed to support the view of an earlier intervention therapy even in milder degrees of thyroid failure in these children.

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