Entities and frequency of neonatal diabetes: data from the diabetes documentation and quality management system (DPV).

AIMS: The aim of this study was to elucidate the entities and the frequency of neonatal diabetes mellitus (NDM) in a large representative database for paediatric diabetes patients in Germany and Austria. METHODS: Based on the continuous diabetes data acquisition system for prospective surveillance (DPV), which includes 51,587 patients with onset of diabetes before the age of 18 years from 299 centres in Germany and Austria, we searched for patients with onset of diabetes mellitus in the first 6 months of life. RESULTS: Ninety patients were identified, comprising 0.17% of all paediatric cases in the DPV registry. This represented an incidence of approximately one case in 89,000 live births in Germany. A monogenic basis for NDM was established in 30 subjects (seven UPD6, 10 KCNJ11, seven ABCC8, two FOXP3, two PDX1, one INS, one EIF2AK3). Pancreatic hypoplasia or agenesis was reported in 10 patients and seven subjects were classified as having Type 1 diabetes by their centres. Transient neonatal diabetes (TNDM) accounted for approximately 10% of all cases with NDM. No aetiology was defined in 41 subjects, which may reflect incomplete genetic testing or novel genetic aetiologies. CONCLUSION: Based on a large database, we identified a higher rate of NDM in Germany than has been reported previously. Full molecular genetic testing should be performed in all patients diagnosed before 6 months of age.

Shorter remission period in young versus older children with diabetes mellitus type 1.

BACKGROUND: The initial period of diabetes type 1 is of great importance, since early metabolic adjustment has profound impact on long term control. The majority of pediatric centers in Germany participate in a national quality initiative, providing longitudinal data for central analysis. PATIENTS: 104543 anonymous data sets were obtained from 6123 pediatric patients under 18 years who were treated in 157 pediatric centers and monitored for 36 months at the same center starting from diagnosis. RESULTS: Partial remission (insulin <0.5 U/kg/d and HbA1c < or = 7.0%) was present in 1992 children (32.5%) within the first 3 months after diagnosis. Remission phase lasted in average for 0.74 +/- 0.77 years and was significantly shorter in children below 10 years of age at onset of diabetes compared to the older patients. The remission period was significantly longer in boys, particularly in children under 10 years (p=0.0039). Multiple regression analysis showed a longer remission phase in children with pubertal diabetes onset. The children entering remission were younger, more often boys and had a lower initial HbA1c level. CONCLUSION: These data from a large multicenter group of children with diabetes type 1 emphasize the influence of gender, pubertal stage and age at manifestation on the amount of insulin required, and therefore the clinical remission, during the first three years of the disease.

Physical effects of heliox versus oxygen on measurements of functional residual capacity by the nitrogen washout technique in small lung volumes: a model study.

Measurements of functional residual capacity (FRC) by the nitrogen (N(2)) washout technique yield low N(2) signals in neonates and preterm infants, especially when they are on high fractions of inspired oxygen (FiO(2)). Thus, recorded values often lie in the low range of detectability. We hypothesized that using heliox instead of oxygen as a washout gas would affect the electric discharge conditions of N(2) molecules in a standard UV analyzer and thus yield higher N(2) signals. We performed three laboratory experiments using conditions similar to those in neonates with pulmonary disease, reproducing different initial FiO(2) values and very small lung volumes. Standard calibration procedures with physical models between 13.5-87 mL using a calibration syringe and purpose-built small calibration cylinders were carried out, and washout gas was either pure oxygen (as is general practice) or heliox at different ratios. We observed that the calibration line with heliox was shifted upwards and the slope was increased, depending on helium concentration and initial FiO(2). Since this effect was dose-dependent with respect to the proportion of helium in the washout gas, this strongly suggests a physical process elicited by the noble gas helium. We conclude that the heliox wash-out modification may help to increase the accuracy of FRC measurements and thus may enable studies of smaller patients or patients on high inspired FiO(2).

Harmonics generation in electron-ion collisions in a short laser pulse.

Anomalously high generation efficiency of coherent higher field harmonics in collisions between oppositely charged particles in the field of femtosecond lasers is predicted. This is based on rigorous numerical solutions of a quantum kinetic equation for dense laser plasmas that overcomes limitations of previous investigations.

[Immunohistochemical detection of chromogranin A and morphometric findings in pancreatic nesidioblastosis in children]. / Immunhistochemischer Chromogranin A-Nachweis und morphometrische Befunde bei frühkindlicher Nesidioblastose.

The histologic features and morphometric data of the endocrine pancreas (surgical specimens) of 12 infants suffering from persistent hyperinsulinemic hypoglycemia are reported. In 3 cases, a focal nesidioblastosis, in another 3 cases, a diffuse nesidioblastosis were observed. 2 infants demonstrate B-cell adenomata and 4 adenomata combined with a diffuse nesidioblastosis. In respect to volume density of the endocrine pancreas and diameter of the islets, there are no differences between cases with diffuse nesidioblastosis and age-matched controls. Structural changes of the endocrine pancreas in cases with nesidioblastosis are detectable by their chromogranin-A-immunoreactivity. Further investigations are necessary to clarify if there are disturbances in the relationships between chromogranin A and peptide hormones additionally to structural changes in the pancreas.

The effect of sham-feeding on gallbladder volume and circulation of bile acids.

Sham-feeding is believed to induce only a vagal stimulus. In the present investigation its effect on gallbladder volume and bile acid circulation was studied. In 8 out of 9 persons we observed a decrease in gallbladder volume from 20.1 +/- 2.4 ml to 15.4 +/- 2.2 ml. After 150 min, serum bile acids had increased from initially 2.0 +/- 0.3 mumoles/l to 2.3 +/- 0.4 mumoles/l. In 10 persons given a liquid test meal, there was a decrease in gallbladder volume from 18.3 +/- 2.7 ml to 5.2 +/- 0.7 ml. Bile acids rose from 2.6 +/- 0.3 mumoles/l to 4.1 +/- 0.5 mumoles/l after 90 min. The response after the test meal was thus more enhanced and faster. It is concluded that: 1. Vagal stimulation from the oral mucosa by sham-feeding can induce evacuation of the gallbladder and enterohepatic circulation of bile. 2. Under normal circumstances this mechanism is probably of minor importance.

Desmopressin testing in haemophilia A patients and carriers: results of a multi centre survey.

INTRODUCTION: Desmopressin (DDAVP) testing (DT) in patients (pts) with haemophilia A (HA) and carriers (CHA) is up to now not standardized. This prompted us to evaluate results of DT carried out between 1996 and 2011 in centres of the Competence Network Haemorrhagic Diatheses East. PATIENTS AND METHOD: An increase of the factor VIII activity (FVIII) above 50% or at least the two fold of initial values within 120 min after DDAVP was defined as complete response (CR). Data from 80 patients (31 children, 49 adults) of whom 64 suffered from HA (sub-HA: n=48; mild: n=14; moderate: n=2) and 16 patients CHA were evaluated. RESULTS: In 34 patients DDAVP was given i.v. (dose range: 0.26-0.6 µg/kg body weight, mean: 0.33), in 31 intranasally (i.n. 300-600 µg) and in 15 s.c. (15-40 µg). The maximal FVIII increase was reached 60 min after DDAVP. For i.v. application the mean FVIII increase was 3.1-fold, for i.n. 2.1-fold and for s.c. 2.4-fold. A CR was detected in 71 patients, a non-response in 9. Mild side effects such as flush, headaches or nausea were observed in 11 patients (14%). CONCLUSION: For desmopressin testing in patients with haemophilia A and carriers i.v. application at 0.3 µg/kg body weight and the determination of FVIII before and 60 min after desmopressin infusion is recommended.