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Aim To assess effects of the SARS-CoV2 pandemic on metabolic control in youth with type 1 diabetes (T1D) in Germany in a population-based analysis. Methods Data from 33,372 pediatric T1D patients from the Diabetes Prospective Follow-up (DPV) registry, with face-to-face visits or telemedicine contacts in the years 2019–2021, were available. Datasets from eight time periods between March 15, 2020, and December 31, 2021, according to SARS-CoV2 incidence waves, were compared to those from five control time periods. Parameters of metabolic control were assessed with adjustment for sex, age, diabetes duration, and repeated measurements. Laboratory-measured HbA1c values and those estimated from CGM were aggregated into a combined glucose indicator (CGI). Results There was no clinically relevant difference in metabolic control between pandemic and control time periods with adjusted CGI values ranging from 7.61% [7.60–7.63] (mean [95% confidence interval (CI)]) in the third quarter of 2019 to 7.83% [7.82–7.85] in the time period from January 1 to March 15 2020, in the other control periods, and during the pandemic, CGI values lay between these values. BMI-SDS rose during the pandemic from 0.29 [0.28–0.30] (mean [95% CI]) in the third quarter of 2019 to 0.40 [0.39–0.41] during the fourth wave. Adjusted insulin dose rose during the pandemic. Event rates for hypoglycemic coma and diabetic ketoacidosis remained unchanged. Conclusions We found no clinically relevant change of glycemic control or incidence of acute diabetes complications during the pandemic. The observed BMI increase may represent an important health risk for youth with T1D.

ZUSAMMENFASSUNGResilienz und Selbstwirksamkeit sind entscheidende Variablen im Therapieerfolg chronisch erkrankter Kinder und Jugendlicher. Resilienzförderliche Faktoren finden sich nicht nur bei der betroffenen Person selbst, sondern vor allem auch in ihrem Umfeld. Dabei sind verlässliche Bezugspersonen ebenso bedeutsam wie ressourcenorientierte Fachkräfte, um Betroffenen eine nach vorne gerichtete Entwicklung zu ermöglichen. Die vorliegende Arbeit zeigt, dass es sinnvoll sein kann, Patienten und ihre Familien auch im Rahmen der Therapie gezielt in der Bewältigung ihrer Erkrankung zu unterstützen und bei ihnen vorhandene Ressourcen zu stärken. Es werden daher Möglichkeiten aufgezeigt, wie resilienz- und selbstwirksamkeitssteigernde Elemente effizient in die Therapie von chronischen Erkrankungen im Kindes- und Jugendalter integriert werden könnten.

Objective: To characterize patients with diabetes treated with a tubeless insulin pump (Omnipod® Insulin Management System; Insulet Corp., Acton, MA), and to evaluate the frequency of acute complications with long-term use of the system. Methods: This retrospective analysis of the German/Austrian Diabetes Patienten Verlaufsdokumentation (DPV) registry included data from 3657 patients with diabetes (n = 3582 type 1, n = 25 type 2, n = 50 latent autoimmune diabetes in adults/other) treated with a tubeless insulin pump. Hemoglobin A1c (HbA1c) levels and frequency of diabetic ketoacidosis (DKA) and severe hypoglycemia (SH) were compared between 1 year pre- and 1 year (n = 2911) or up to 3 years (n = 1311) post-tubeless insulin pump initiation and compared with a contemporary cohort on multiple daily injections (MDI) with 3-year data (n = 1874). Results: Patients using tubeless insulin pump therapy had a median age of 13.7 years [interquartile range 10.8, 17.3], diabetes duration 3.7 years [1.7, 8.0], and HbA1c 7.5% [6.9, 8.2]. In patients with 3 years of follow-up data (n = 1311), the percentage with ≥1 episode of DKA, SH (Level 3, requiring assistance), and SH (coma) event with prior treatment was 6.3%, 5.5%, and 1.7%, respectively. After 3 years of tubeless insulin pump therapy, the frequency of DKA, SH (Level 3), and SH (coma) decreased to 2.2%, 4.1%, and 0.5%, respectively. Both DKA and SH remained significantly lower compared with MDI after adjustment in multiple regression analysis. High treatment retention rates (>90%) were observed. Conclusion: Real-world registry data document that tubeless insulin pump therapy is associated with good glycemic control and a low frequency of DKA and SH in an age group prone to acute complications.

New therapeutic strategies for juvenile idiopathic arthritis (JIA) have evolved within the past ten years, and as a result, an update of the 2011 recommendations of the German management guidelines was initiated.A systemic literature review was performed, overarching principles were proposed and pre-selected via an online survey followed by two multidisciplinary consensus conferences. Pharmacological and non-pharmacological treatments were discussed, statements were proposed and ultimately agreed upon by nominal group technique (NGT).12 overarching therapeutic principles, as well as 9 recommendations on pharmacological and 5 on non-pharmacological treatments for JIA were agreed upon.This report summarizes the recent update of the interdisciplinary, consensus-based German guidelines on the management of JIA. The multi- and interdisciplinary participation of all caregivers was central for this patient-focused update. With these guidelines, physicians can choose an evidence-based approach, which allows better tailored treatment in this vulnerable cohort of children and adolescents.

OBJECTIVES With this study, our aim was to quantify the relative risk (RR) of diabetic ketoacidosis at diagnosis of type 1 diabetes during the year 2020 and to assess whether it was associated with the regional incidence of coronavirus disease 2019 (COVID-19) cases and deaths. METHODS Multicenter cohort study based on data from the German Diabetes Prospective Follow-up Registry. The monthly RR for ketoacidosis in 2020 was estimated from observed and expected rates in 3238 children with new-onset type 1 diabetes. Expected rates were derived from data from 2000 to 2019 by using a multivariable logistic trend regression model. The association between the regional incidence of COVID-19 and the rate of ketoacidosis was investigated by applying a log-binomial mixed-effects model to weekly data with Germany divided into 5 regions. RESULTS The observed versus expected frequency of diabetic ketoacidosis was significantly higher from April to September and in December (mean adjusted RRs, 1.48–1.96). During the first half of 2020, each increase in the regional weekly incidence of COVID-19 by 50 cases or 1 death per 100 000 population was associated with an increase in the RR of diabetic ketoacidosis of 1.40 (95% confidence interval, 1.10–1.77; P = .006) and 1.23 (1.14–1.32; P < .001), respectively. This association was no longer evident during the second half of 2020. CONCLUSIONS These findings suggest that the local severity of the pandemic rather than health policy measures appear to be the main reason for the increase in diabetic ketoacidosis and thus the delayed use of health care during the pandemic.

Zusammenfassung Fragestellung Assoziation zwischen Bildungsstand (BldS) der Eltern und diabetesbezogenen Outcomes bei Kindern mit Typ-1-Diabetes in Deutschland und Vergleich mit deren sozioökonomischem Status (SES). Material und Methode 1781 Kinder und Jugendliche mit Typ-1-Diabetes mellitus unter 18 Jahren aus 13 deutschen Diabeteszentren wurden von Juni 2013 bis Juni 2014 in die Studie eingeschlossen und Assoziationen des familiären BldS mit verschiedenen Diabetesoutcomes analysiert. Die Analyse wurde als Sekundäranalyse anhand des Datensatzes der DIAS-Studie durchgeführt. Diese hatte Assoziationen eines niedrigen SES (gemessen mit einem Index aus BldS, beruflicher Stellung und Haushaltseinkommen der Eltern) mit ungünstigen Diabetes- und Versorgungsoutcomes ermittelt. Die vorliegende Sekundäranalyse untersuchte Assoziationen derselben Outcomes mit dem BldS der Eltern, um zu prüfen, ob sich der BldS als vereinfachter Indikator für die Routinemessung des SES eignet.Die Daten wurden mittels der DPV-Software (Diabetes-Patienten-Verlaufsdokumentation) erfasst, die Analysen erfolgten je nach Verteilungscharakteristika der Outcomes mittels linearer, logistischer, negativ-binomialer oder Poisson-Modellen unter Adjustierung für Alter, Geschlecht, Diabetesdauer, jeweils mit und ohne zusätzliche Adjustierung für Migrationshintergrund. Ergebnisse Niedriger familiärer BldS war im Vergleich zu mittlerem/hohem BldS mit einer schlechteren glykämischen Einstellung (HbA1c) (8,1 % versus 7,8 %, p Zusammenfassung Der BldS der Eltern ist ein bedeutsamer Prädiktor für Gesundheits- und Versorgungsoutcomes bei Kindern mit Typ-1-Diabetes und sollte in der personalisierten Diabetestherapie von Kindern und Jugendlichen mehr Berücksichtigung erfahren. Als kurzer und leicht zu erhebender Indikator bildet er einen guten Näherungswert für die Routineerhebung der individuellen Stellung der Patientinnen und Patienten in der Sozialhierarchie in Diabetes-Standarddokumentationen.

Hintergrund Die diabetische Ketoacidose (DKA) ist ein lebensbedrohlicher Notfall bei Manifestation eines Diabetes mellitus Typ 1 (DM1) bei Kindern und Jugendlichen, häufig bei verspäteter Diagnosestellung oder vorheriger Fehldiagnose. Während der Zeit des „Coronavirus-disease-2019(COVID-19)-Lockdowns“ in Deutschland stellten sich weniger Patienten in Notfallambulanzen und Arztpraxen vor. Fragestellung Hat sich der Anteil der DKA bei Manifestation eines DM1 in der pädiatrischen Population in diesem Zeitraum verändert, und welche Gruppen sind besonders gefährdet, eine DKA zu erleiden? Material und Methoden Die DKA-Häufigkeit in der Zeit vom 13.03.2020 bis 13.05.2020 wurde bei Patienten

Background: International guidelines recommend psychosocial care for children and adolescents with type 1 diabetes. Objective: To assess psychological care in children and adolescents with type 1 diabetes in a real-world setting and to evaluate associations with metabolic outcome. Methods: Delivery of psychological care, HbA1c, and rates of severe hypoglycemia and diabetic ketoacidosis (DKA) in children and adolescents with type 1 diabetes from 199 diabetes care centers participating in the German diabetes survey (DPV) were analyzed. Results: Overall, 12 326 out of 31 861 children with type 1 diabetes were supported by short-term or continued psychological care (CPC). Children with psychological care had higher HbA1c (8.0% vs 7.7%, P

Background Achieving the best possible health-related quality of life (HRQoL) for a patient is an important treatment goal in juvenile idiopathic arthritis (JIA). We investigated the 36-month trajectories of HRQoL in children with JIA compared with healthy peers and identified the predictors of an unfavorable HRQoL. Methods Patients with a recent JIA diagnosis were enrolled in the German inception cohort study ICON. As a peer group, friends of patients of the same age and sex were asked to cooperate. Children were prospectively followed and regularly questioned about their HRQoL using the Pediatric Quality of Life Inventory 4.0 (PedsQL). Disease activity was assessed by the clinical Juvenile Arthritis Disease Activity Score (cJADAS-10), and the burden of the child’s chronic illness on their family was assessed by the Family Burden Questionnaire (FaBel). Linear mixed models were used to compare the HRQoL of the patients and their peers. Associations between the health status of a patient at enrollment and an unfavorable HRQoL (PedsQL total

Zusammenfassung Hintergrund Modulare Patientenschulungen sind bei chronisch kranken Kindern wirksam. Wenig ist über den Einfluss von sozioökonomischem Status (SoS), Migrationshintergrund (MH) und psychischen Auffälligkeiten der Kinder und ihrer Familien bekannt. Frage Beeinflussen SoS, MH oder psychische Auffälligkeiten den Erfolg von Patientenschulungen (Krankheitswissen, gesundheitsbezogene Lebensqualität (LQ) und Lebenszufriedenheit des Kindes und die elterliche Krankheitsbelastung)? Methoden Unterschiedlich chronisch kranke Kinder und ihre Eltern nahmen an Patientenschulungen teil. Vor bzw. 6 Wochen nach der Schulung wurden mit standardisierten Fragebögen SoS, MH, psychische Auffälligkeiten der Kinder, Krankheitswissen der Kinder und Eltern, gesundheitsbezogene LQ bzw. Lebenszufriedenheit der Kinder und elterliche Krankheitsbelastungen erfasst. Mit Varianz- und Regressionsanalysen wurde der Einfluss von SoS, MH und psychischen Auffälligkeiten auf den Schulungseffekt untersucht. Ergebnisse 398 Kinder (durchschnittlich 10,2 Jahre) und ihre Eltern nahmen an den Schulungen teil. SoS, MH und psychische Auffälligkeiten hatten keinen Einfluss auf die Verbesserungen des Krankheitswissens, der kindlichen gesundheitsbezogenen LQ und Lebenszufriedenheit sowie der elterlichen Belastung. In den Verlaufsuntersuchungen gingen ein niedriger SoS, ein MH und psychische Auffälligkeiten mit niedrigerem Wissen, niedrigerer gesundheitsbezogener LQ bzw. Lebenszufriedenheit des Kindes und erhöhter elterlicher Belastung einher. Diskussion Benachteiligte Familien und Kinder mit Verhaltensauffälligkeiten profitieren von Patientenschulungen, jedoch benötigen sie angesichts spezifischer Bedarfe einen erhöhten Schulungsumfang.

Psychological stress is a known general health risk potentially increasing the risk of type 1 diabetes. Consistent with this hypothesis, there were reports of a higher incidence of type 1 diabetes after other stressful catastrophic events, e.g., the Chernobyl incident in 1986 or the Los Angeles earthquake in 1994 (1,2). Over the past few months, coronavirus disease 2019 (COVID-19) and subsequent social distancing have affected biological, psychological, economic, and social aspects of life. Social distancing during the lockdown could be perceived as a stressful situation for children and adolescents, who could not attend kindergarten or school and were unable to pursue hobbies like sports or meeting friends. Perceived stress caused by feelings of isolation may have increased the risk of type 1 diabetes (3). Since type 1 diabetes is also associated with viral infections (4), explaining, for example, the higher type 1 diabetes incidence during winter months, COVID-19 infection may have caused an increase of type 1 diabetes manifestations by affecting immune regulation or by directly damaging pancreatic β-cells (5 …

Objective With increasing migration to Europe, diabetes diagnosis and treatment of refugees became challenging. To describe the current experience with pediatric refugees in Germany and Austria. Design and Methods 43,137 patients (n = 365) or Africa (n = 175) and native patients (child and parents born in Germany/Austria; G/A: n = 42,597). Groups were compared using multivariable regression adjusted for age, sex and diabetes duration (SAS 9.4). In refugees the first year after arrival was studied, and for native children the most recent year of care. Results After adjustment, HbA1c was highest in refugees (1. ME and 2. AFR vs 3. G/A: 72.3 ± 1.0 and 75.0 ± 1.4 vs 66.0 ± 0.1 mmol/mol, 1 vs 3: P P P = 0.039 and 2 vs 3: P = 0.002) was more prevalent. African children experienced severe hypoglycemia (17.8 ± 4.3 and 25.4 ± 8.7 vs 11.5 ± 0.3 per 100 patient years, 1 vs 3: P > 0.05 and 2 vs 3: P = 0.045) significantly more often, whereas hypoglycemia with coma (5.1 ± 1.1 and 4.1 ± 1.6 vs 2.6 ± 0.1 per 100 patient years, 1 vs 3: P = 0.006 and 2 vs 3: P > 0.05) and retinopathy (2.1 and n/a vs 0.2%, 1 vs 3: P P P Conclusions A relevant number of pediatric refugees with type 1 diabetes are treated in German/Austrian diabetes clinics. Refugee children, parents and caregivers are faced with several problems in diabetes therapy and outcome that should be addressed more intensively by pediatric diabetes teams.

Objective To evaluate the association between socioeconomic status (SES) and diabetes outcomes in German children and adolescents. Methods A total of 1829 subjects

Nach Manifestation eines Typ-1-Diabetes ist die Unterstutzung der Integration der betroffenen Kinder in Kindertagesstatte (Kita) und Schule eine zentrale Aufgabe des Diabetesteams in enger Zusammenarbeit mit Eltern und Betreuenden in der Einrichtung. Dafur ist u. a. eine individuelle Schulung der Betreuer und Lehrer vor Ort notwendig, die es ermoglicht, diabetesspezifisches Grundlagenwissen zu vermitteln und Unsicherheiten und Angste vor der Wiedereingliederung abzubauen. Durchfuhrung und Finanzierung dieser Schulung finden je nach Region sehr verschieden statt. Noch sehr viel heterogener gestalten sich innerhalb der einzelnen Bundeslander die Modelle der Integration, die sogar innerhalb der Kommunen vollig unterschiedliche Regularien aufweisen. Die Arbeitsgruppe (AG) „Inklusion“ der AGPD (Arbeitsgemeinschaft Padiatrische Diabetologie der Deutschen Diabetesgesellschaft) fuhrte deshalb zur Bestandsaufnahme eine bundesweite Befragung von 66 kinderdiabetologischen Zentren (N = 9700 Patienten) durch. In der vorliegenden Arbeit werden als erster Schritt die Daten zur initialen Schulung prasentiert. So findet diese in fast 90 % der Nennungen durch qualifizierte Fachkrafte, uberwiegend individuell und vor Ort in der Einrichtung statt. In knapp 80 % der erfassten Falle im Bereich Kita und in 70 % der Falle im Bereich Schule wird diese Erstschulung jedoch durch Spenden, Ehrenamt oder eine Querfinanzierung von Geldern innerhalb der Diabeteseinrichtung gewahrleistet. Damit gilt fur die vorliegende Stichprobe, dass die Schulungen in uberwiegendem Mase abhangig sind von privatem Engagement oder von Zugestandnissen der kaufmannischen Entscheidungstrager. Das heist: Eine Leistung, die essenziell fur die Aufnahme eines Kindes mit dem Handicap Diabetes in eine Einrichtung und damit fur die Krankheitsakzeptanz der Stoffwechselerkrankung ist, muss immer wieder durch Privatinitiative erarbeitet oder in Verhandlungen ausgefochten werden. Daher fordern wir – neben Masnahmen, die die Dauerbetreuung gewahrleisten – verbindliche Regelungen fur die Durchfuhrung und Finanzierung von Schulungen fur Betreuer in Kindertagestatten sowie Lehrer und Betreuungspersonal in Schulen.

Modular patient education programs are effective in children with chronic conditions and their families. Little is known about the influence of socioeconomic status (SES), migration background (MB) and children's mental-health problems on the programs' effects.Do SES, MB or mental-health problems influence the success of education programs (disease-specific knowledge, children's health-related quality of life (HRQoL) and life satisfaction and parents' condition-specific burden)?Children with different chronic conditions and their parents participated in modular patient education programs. Before and 6 weeks after the participation SES, MB, children's mental-health problems, parents' und children's disease-specific knowledge, children's HRQoL and life satisfaction and parents' condition-specific burden were assessed by standardized questionnaires. The influence on the programs' effects of SoS, MH and mental-health problems were examined with variance and correlation analyses.398 children (mean age 10.2 yrs) and their parents participated. Irrespective of SoS, MH and mental-health problems the programs were associated with improved disease-specific knowledge, children's HRQoL and life satisfaction and parents' disease-specific burden. At follow-up SoS, MH and mental-health problems were associated with reduced knowledge, reduced children's' HRQoL and life satisfaction and increased parents' disease-specific burden.Disadvantaged families and children with mental-health problems benefit from education programs, but have an increased need of education due to special challenges.Modulare Patientenschulungen sind bei chronisch kranken Kindern wirksam. Wenig ist über den Einfluss von sozioökonomischem Status (SoS), Migrationshintergrund (MH) und psychischen Auffälligkeiten der Kinder und ihrer Familien bekannt.Beeinflussen SoS, MH oder psychische Auffälligkeiten den Erfolg von Patientenschulungen (Krankheitswissen, gesundheitsbezogene Lebensqualität (LQ) und Lebenszufriedenheit des Kindes und die elterliche Krankheitsbelastung)?Unterschiedlich chronisch kranke Kinder und ihre Eltern nahmen an Patientenschulungen teil. Vor bzw. 6 Wochen nach der Schulung wurden mit standardisierten Fragebögen SoS, MH, psychische Auffälligkeiten der Kinder, Krankheitswissen der Kinder und Eltern, gesundheitsbezogene LQ bzw. Lebenszufriedenheit der Kinder und elterliche Krankheitsbelastungen erfasst. Mit Varianz- und Regressionsanalysen wurde der Einfluss von SoS, MH und psychischen Auffälligkeiten auf den Schulungseffekt untersucht.398 Kinder (durchschnittlich 10,2 Jahre) und ihre Eltern nahmen an den Schulungen teil. SoS, MH und psychische Auffälligkeiten hatten keinen Einfluss auf die Verbesserungen des Krankheitswissens, der kindlichen gesundheitsbezogenen LQ und Lebenszufriedenheit sowie der elterlichen Belastung. In den Verlaufsuntersuchungen gingen ein niedriger SoS, ein MH und psychische Auffälligkeiten mit niedrigerem Wissen, niedrigerer gesundheitsbezogener LQ bzw. Lebenszufriedenheit des Kindes und erhöhter elterlicher Belastung einher.Benachteiligte Familien und Kinder mit Verhaltensauffälligkeiten profitieren von Patientenschulungen, jedoch benötigen sie angesichts spezifischer Bedarfe einen erhöhten Schulungsumfang.

Objective Recent literature suggests an association between type 1 diabetes (T1D) and depression. So far, most studies explored this link in adult populations, with few data being available on diabetes and depression from minors and young adults. This study aimed to look for associations between symptoms of depression/antidepressant treatment and metabolic outcomes of T1D. Methods We conducted an observational study using the German diabetes database (Diabetes-Patienten-Verlaufsdokumentation – DPV) and searched for patients up to the age of 25 yr, with depressive symptoms and/or receiving antidepressant medication. Results Of 53 986 T1D patients below the age of 25 yr, antidepressant medication and/or depressive symptoms were reported in 419 (0.78%). After adjustment for age, gender, diabetes duration and center heterogeneity, minors and young adults with depressive symptoms showed worse outcome parameters such as a higher rate of severe hypoglycemia (0.56 vs. 0.20/patient year, p = 0.005) and more episodes of diabetic ketoacidosis (0.20 vs. 0.07/patient year, p < 0.001). Hemoglobin A1c (HbA1c) was higher in the depression group (74.50 vs. 67.58 mmol/mol, p < 0.001) and young patients with T1D and depression showed longer duration of inpatient treatment (7.04 vs. 3.10 hospital days/patient year, p < 0.001) and more frequent admissions to hospital care (0.63 vs. 0.32/patient year, p < 0.001). Antidepressant medication was recorded in 52.3% of the depressed patients, with selective serotonin reuptake inhibitors (SSRIs) being the most widely described class of antidepressants (29.1%). Conclusions Our findings demonstrate an adverse treatment outcome for young patients with T1D and comorbid depressive symptoms underlining an urgent need for collaborative mental and somatic health care for patients with T1D and depression.

BACKGROUND The scheduled update to the German S3 guidelines on fibromyalgia syndrome (FMS) by the Association of the Scientific Medical Societies ("Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften", AWMF; registration number 041/004) was planned starting in March 2011. MATERIALS AND METHODS The development of the guidelines was coordinated by the German Interdisciplinary Association for Pain Therapy ("Deutsche Interdisziplinaren Vereinigung fur Schmerztherapie", DIVS), 9 scientific medical societies and 2 patient self-help organizations. Eight working groups with a total of 50 members were evenly balanced in terms of gender, medical field, potential conflicts of interest and hierarchical position in the medical and scientific fields. Literature searches were performed using the Medline, PsycInfo, Scopus and Cochrane Library databases (until December 2010). The grading of the strength of the evidence followed the scheme of the Oxford Centre for Evidence-Based Medicine. The formulation and grading of recommendations was accomplished using a multi-step, formal consensus process. The guidelines were reviewed by the boards of the participating scientific medical societies. RESULTS AND CONCLUSION The diagnosis FMS in children and adolescents is not established. In so-called juvenile FMS (JFMS) multidimensional diagnostics with validated measures should be performed. Multimodal therapy is warranted. In the case of severe pain-related disability, therapy should be primarily performed on an inpatient basis. The English full-text version of this article is available at SpringerLink (under "Supplemental").

Background The main features of severe congenital neutropenia are the onset of severe bacterial infections early in life, a paucity of mature neutrophils, and an increased risk of leukemia. In many patients, the genetic causes of severe congenital neutropenia are unknown. Methods We performed genomewide genotyping and linkage analysis on two consanguineous pedigrees with a total of five children affected with severe congenital neutropenia. Candidate genes from the linkage interval were sequenced. Functional assays and reconstitution experiments were carried out. Results All index patients were susceptible to bacterial infections and had very few mature neutrophils in the bone marrow; structural heart defects, urogenital abnormalities, and venous angiectasia on the trunk and extremities were additional features. Linkage analysis of the two index families yielded a combined multipoint lod score of 5.74 on a linkage interval on chromosome 17q21. Sequencing of G6PC3, the candidate gene encoding glucose-6-phos...

Erstellung einer interdisziplinaren Leitlinie auf S3-Niveau zur Diagnostik und Therapie des juvenilen Fibromyalgiesyndroms (JFMS) in Kooperation von 10 medizinischen bzw. psychologischen Fachgesellschaften und 2 Patientenselbsthilfeorganisationen. Eine Literatursuche nach allen kontrollierten Studien zur Therapie des FMS wurde unter Benutzung der Cochrane Collaboration Reviews (1993–12/2006), Medline (1980-12/2006), PsychInfo (1966–12/2006) und Scopus (1980–12/2006) durchgefuhrt. Die Vergabe von Evidenzklassen erfolgte mittels des Systems des Oxford Centre for Evidence-Based Medicine. Empfehlungsgrade wurden nach der Empfehlungsgraduierung der nationalen Versorgungsleitlinien vergeben und in einem mehrstufigen nominalen Gruppenprozess erstellt. Schmerzen bei Kindern/Jugendlichen in mehreren Korperregionen mit einer Dauer >3 Monaten ohne erkennbare somatische Ursache werden als juveniles FMS (JFMS) oder als „Schmerzverstarkungssyndrom“ (SVS) bezeichnet. Ein multimodales Konzept mit psycho- und physiotherapeutischen Verfahren, Entspannungstherapien und Schulungsprogrammen wird empfohlen (Empfehlungsgrad offen). Diese Leitlinien werden zu einer besseren Erkennung und standardisierten Versorgung von JFMS-Patienten beitragen und die Durchfuhrung klinischer Studien erleichtern.

To analyze the prevalence of juvenile idiopathic arthritis (JIA) and diabetes end points in pediatric patients with type 1 diabetes.Patients with type 1 diabetes, recorded from 1995 up to September 2013 in the Diabetes Patienten Verlaufsdokumentation database (n = 54,911,16 years of age, 47% girls), were analyzed. The patients' height, weight, and body mass index SDS, glycosylated hemoglobin A1c (HbA1c); insulin dose; hypertension and dyslipidemia prevalence; rate of hypoglycemic events; and ketoacidosis were compared between patients with and without JIA. To adjust for age, sex, diabetes duration, and migration background, data were analyzed in hierarchic multivariable regression models.The prevalence of JIA in type 1 diabetes was 106 of 54,911 patients; 66% were girls. Diabetes onset was earlier in children with JIA (7.2 years vs 8.3 years, P = .04). Children with JIA were smaller (SDS: -0.22 vs 0.09, P = .004). Correspondingly, weight SDS was lower in patients with JIA (-0.02 vs 0.22, P = .01). Body mass index SDS did not differ. HbA1c was marginally lower in children with JIA (63 mmol/mol [8.0%] vs 67 mmol/mol [8.3%], P = .06). Insulin requirement was greater in patients with JIA (1.03 vs 0.93 insulin units/weight/day, P = .003). Hypertension and dyslipidemia were comparable in both groups.The JIA-prevalence in patients with type 1 diabetes (0.19%) was considerably greater than in the general population (0.05%). Growth is influenced negatively by JIA. Surprisingly, HbA1c was somewhat lower in children with JIA, possibly because of a more intensive treatment or a latent hemolysis caused by the inflammation.

Recent literature suggests an association between type 1 diabetes (T1D) and depression. So far, most studies explored this link in adult populations, with few data being available on diabetes and depression from minors and young adults. This study aimed to look for associations between symptoms of depression/antidepressant treatment and metabolic outcomes of T1D.We conducted an observational study using the German diabetes database (Diabetes-Patienten-Verlaufsdokumentation--DPV) and searched for patients up to the age of 25 yr, with depressive symptoms and/or receiving antidepressant medication.Of 53 986 T1D patients below the age of 25 yr, antidepressant medication and/or depressive symptoms were reported in 419 (0.78%). After adjustment for age, gender, diabetes duration and center heterogeneity, minors and young adults with depressive symptoms showed worse outcome parameters such as a higher rate of severe hypoglycemia (0.56 vs. 0.20/patient year, p = 0.005) and more episodes of diabetic ketoacidosis (0.20 vs. 0.07/patient year, p0.001). Hemoglobin A1c (HbA1c) was higher in the depression group (74.50 vs. 67.58 mmol/mol, p0.001) and young patients with T1D and depression showed longer duration of inpatient treatment (7.04 vs. 3.10 hospital days/patient year, p0.001) and more frequent admissions to hospital care (0.63 vs. 0.32/patient year, p0.001). Antidepressant medication was recorded in 52.3% of the depressed patients, with selective serotonin reuptake inhibitors (SSRIs) being the most widely described class of antidepressants (29.1%).Our findings demonstrate an adverse treatment outcome for young patients with T1D and comorbid depressive symptoms underlining an urgent need for collaborative mental and somatic health care for patients with T1D and depression.

Aim: This study investigated insulin pump therapy in pediatric patients with type 1 diabetes and Turkish origin compared with those without migration background in Germany. Subjects and Methods: Using a nationwide documentation program, we estimated the prevalence of insulin pump therapy in patients

We here describe a previously unrecognized nosological entity in 12 patients from 8 unrelated pedigrees. All patients presented with severe congenital neutropenia and severe invasive bacterial infections. In addition, patients had a variety of additional syndromic features such as congenital heart disease (8/12), urogenital malformations (5/12), inner ear hearing loss (2/12), and myopathy (1/12). Furthermore, most patients (10/12) showed increased visibility/angiectasia of subcutaneous veins. The bone marrow smear was characterized by a typical “maturation arrest” due to premature apoptosis of mature neutrophils. Similar to Kostmann’s disease secondary to mutations in HAX1, myeloid cells from patients with this novel syndrome showed increased susceptibility to apoptosis. Myeloid progenitor cells revealed an abnormally enlarged rough endoplasmic reticulum and increased endoplasmic reticulum stress evidenced by increased expression of BiP. A genome-wide linkage study, performed in two consanguineous pedigrees, gave statistical evidene of a linkage interval on chromosome 17q21 (LOD score 5.74). We identified homozygous missense mutations in G6PC3, a ubiquitously expressed paralog of glucose-6-phosphatase. Biochemical studies confirmed deficient enzymatic activity. Using retroviral G6PC3-gene transfer into primary hematopoietic stem cells and in vitro differentiation into myeloid cells, the phenotype of increased susceptibility to apoptosis could be reverted. Eight distinct biallelic mutations were found, including missense and nonsense mutations. G6PC3-deficient myeloid cells showed a predominance of the unphosphorylated form of GSK3beta, a key molecule controlling cellular differentiation and apoptosis. As a consequence of increased GSK3beta activity, increased phosphorylation of the antiapoptotic molecule Mcl1 was detected, explaining increased susceptibility to apoptosis in neutrophils. In summary, our study describes a novel disease, determines its molecular etiology, and sheds light on the role of glucose-dependent pathways in controlling the homeostasis of the endoplasmic reticulum and control of apoptosis.