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Aim Type 1 diabetes is the most common chronic metabolic disease in childhood. Often diagnosis comes with acutely life-threatening ketoacidosis and requires hospitalization. To avoid this, early detection of children at a pre-symptomatic stage is worthwhile. This task is met by a population-based screening in Bavaria, Germany – the Fr1da study. Here, we aim to evaluate the study concept, feasibility and medical evidence of the Fr1da study. Methods 308 pediatricians, 16 diabetes care centers and participating families were asked to evaluate the Fr1da study by completing questionnaires assessing study concept and feasibility, educational program and study organization. The assessment was done anonymously. In order to evaluate the effectiveness of the training the parents had to answer questionnaires to assess their knowledge about diabetes. Results 48% of pediatricians and 56% of pediatric diabetes care centers filled out the questionnaire. The majority positively judged the collaboration with the Fr1da coordinating center and the feasibility to integrate the project into daily routine. Medical evidence of the screening was recognized and most of the respondents endorsed the screening to be permanently integrated into standard care-program. The majority of parents would recommend the study to other parents with young children since they were satisfied with the collaboration with pediatricians, diabetes care centers and the coordinating center. Quality control of the educational program revealed good understanding of the teaching content. Conclusion The Fr1da study received high acceptance and recognition by both, health care providers and participating families, and demonstrated sustainable success with the developed educational program. &nbsp

Background: Although detection of children at high risk of developing type 1 diabetes and diagnosis of early stages is possible, up to now there exists no approved therapy to delay or prevent type 1 diabetes. Thus it is vital to develop evidence-based interventions. For this a sufficient number of trial participants is crucial but difficult to obtain especially in asymptomatic children. Aim: Identifying family characteristics that lead to or impede trial participation and analyze reasons stated by families for non-participation. Methods: Participants for the Fr1da Insulin Intervention study are recruited from the Fr1da study, a population based screening for early stage type 1 diabetes in Bavaria. Families with eligible children were invited to enroll. We analyzed sex and age of the child, distance of the family to the study center in Munich and the existence of a first degree family member with type 1 as possible influential factors for study participation. We also analyzed reasons stated by families who declined study participation in a phone interview. Results: Of 146 eligible children 77 (53%) were enrolled into the trial. None of the tested family characteristics differed significantly between the enrolling and the families not participating, but in general enrolling families lived closer to the study site than families not participating. This is also reflected in the reasons given by non-participating families. The most frequent reason stated were time restrictions. The second most frequent reason was the venous blood draw. Conclusion: The factors for non-participation identified in this project need be taken into account for the design of future trials in young children to ensure proper recruitment and thus to generate valid results for medical treatment of children. More research on the reason of participation and non-participation in clinical trials is needed. Keywords: Type 1 diabetes, Trial recruitment, Trial enrollment, Infants, Children, Asymptomatic

ZusammenfassungDie Ätiologie der unterschiedlichen Wachstumsstörungen wurde während der letzen 20 Jahre in vielen Fällen geklärt, wobei gezeigt werden konnte, dass ganz unterschiedliche genetische Defekte, meist Einzelgendefekte, für den Kleinwuchs verantwortlich sind. In dieser Übersichtsarbeit haben wir uns auf zwei Gruppen von Wachstumsstörungen, die allerdings sehr komplex sind, beschränkt und zwar auf den Kleinwuchs nach intrauteriner Mangelgeburt bzw. den idiopathischen Kleinwuchs. Beide Phänotypen werden häufig in der kinderendokrinologischen Sprechstunde vorgestellt. Erst kürzlich konnte gezeigt werden, dass bei einem kleinen Prozentsatz von Patienten mit einem idiopathischen Kleinwuchs eine SHOX-Mutation ursächlich ist. Anhand eines Fallbeispiels aus unserer endokrinologischen Sprechstunde möchten wir diesen Zusammenhang erläutern.

Introduction Even within high-income countries, treatment and outcome quality of type 1 diabetes (T1D) differ between regions. For example, significant disparities in pediatric diabetes care were observed between the 16 federal states of Germany. Area deprivation might be one of the contributing factors explaining these regional variations. However, the influence of area deprivation on T1D outcomes has been investigated in a few countries only. So far in Germany, merely the influence of individual socioeconomic status (SES) on outcomes of patients with T1D has been investigated. Our objective was to analyze if area deprivation contributes to regional disparities in treatment and outcome quality of children and adolescents with T1D. Methods Pediatric patients ( Results HbA1c worsened with increasing area deprivation from 7.78% in Q1 to 8.02% in Q5. BMI SDS increased steadily with deprivation from 0.28 in Q1 to 0.36 in Q5. By contrast, the rate of severe hypoglycemia decreased from 12.2 events/100 PY in Q1 to 6.9 events/100 PY in Q5. Rapid-acting insulin analogues were more frequently used with increasing deprivation from 66.8% in Q1 to 87.8% in Q5. All results were significant (P After controlling for federal states, associations between area deprivation and outcome quality (HbA1c, rate of severe hypoglycemia, and BMI SDS) remained similar, whereas associations with treatment (use of rapid-acting insulin analogues) were attenuated. Conclusion Area deprivation is associated with medical care of pediatric patients with T1D in Germany. Associations with outcome quality but not with treatment are independent of the federal states. Investigations of potential mediating variables might allow for a better understanding of underlying mechanisms. Further research is necessary to initiate targeted interventions and to reduce regional disparities in pediatric diabetes care, even in high-income countries.

Die Beurteilung des Wachstums sollte jeder Arzt, der Kinder betreut, beherrschen. Ein gesundes Kind wachst gut, ein krankes schlecht. Viele, insbesondere chronische Erkrankungen gehen langfristig mit einer Wachstumsstorung einher. Lesen Sie, wie Sie genetische von ernahrungsbedingten oder hormonellen Ursachen abgrenzen, in welchen Fallen eine weitere Abklarung angezeigt ist und wann Sie zum Abwarten raten konnen.

Background : Over the years, poor medical documentation is a well known phenomenon in medical practice but the magnitude of the problem in our setting has not been defined. Objective : To assess the overall frequency of missed detection of anomalies of external genitalia following the routine newborn physical examination and to describe the general pattern of its documentation. Methods : In this hospital-based descriptive cross-sectional study, 915 full-term newborn infants in an open population survey were systematically screened for anomalies of the external genitalia, using a checklist derived by modifying parameters in the Prader scoring system and the External masculinization score charts. The pattern of documentation was assessed in 915 case files. The findings of the researchers were then compared to those previously documented by the attending physician/midwife. The study was conducted in two Nigerian hospitals (University of Benin Teaching Hospital and St Philomena Catholic Hospital) in Benin City. All members of staff of the two hospitals were blinded to the fact that the previous examination findings documented in the case files were being assessed during this study. Results : Of the 915 infants, 19 (2.1%; 95% CI= 1.2-3.0) had anomaly of the external genitalia at birth. The overall frequency of missed diagnosis of external genital anomalies was 68.4% with undescended testes (UDT) being the most frequently missed. The level of documentation of the findings of the external genital examination was poor in both hospitals. Combining the two hospitals, the external genital examination findings were not documented in 76.1% of case files. Conclusions : The routine newborn examination as currently practiced in the two hospitals was weak in detecting external genital anomalies. Poor documentation of the external genital findings is a common occurrence in the setting where we practice, irrespective of whether the health institution is tertiary or secondary. Key words : Audit, clinical documentation, external genitalia anomalies, missed diagnosis, routine newborn examination.

Der Beginn der Pubertatsentwicklung bei Jungen wie bei Madchen hat sich in den letzten 100 Jahren zunehmend nach vorne verschoben.

Hintergrund:Uber die Plasmaspiegel des Lipoprotein (a), einem bedeutenden kodominant vererbten Risikofaktor fur koronare- und zerebrovaskulare Erkrankungen, ist bei Kindern wenig bekannt. Methode: Wir untersuchten die Lipoprotein-(a)-Werte bei 111 gesunden Kindern (Altersverlaufstudie), davon in 37 Fallen auch die der jeweiligen Eltern (Familienstudie) und dokumentierten mit Hilfe eines Fragebogens anamnestisch erfasbare koronare Risikofaktoren. Ergebnisse: Der Mittelwert der Lipoprotein-(a)-Serumkonzentration in der Altersverlaufstudie betrug 16±20 mg/dl (Medianwert 9 mg/dl). Von den untersuchten Kinder hatten 23 (20%) erhohte Werte (≥30 mg/dl). Dies ging einher mit signifikant erhohten Mittelwerten fur Gesamt- und Low-Density-Lipoprotein-Cholesterin (LDL-Cholesterin) gegenuber der ubrigen Population. Es fand sich eine deutlich positive Korrelation zwischen den Lipoprotein-(a)-Werten und den Serumkonzentrationen von Gesamt- bzw. LDL-Cholesterin (p

Growth is affected by a great number of different genes, hormones and environmental factors that can influence the development of an individual at a variety of stages. This explains the vast number of disorders and the complexity of the symptoms. Every doctor who takes care of children should be able to recognize growth disorders; however, the further diagnosis and treatment belongs in the hands of experienced and specialized paediatric endocrinologists.