BackgroundSince an objective description is essential to determine infant’s postnatal condition and efficacy of interventions, two scores were suggested in the past but weren’t tested yet: The Specified-Apgar uses the 5 items of the conventional Apgar score; however describes the condition regardless of gestational age (GA) or resuscitative interventions. The Expanded-Apgar measures interventions needed to achieve this condition. We hypothesized that the combination of both (Combined-Apgar) describes postnatal condition of preterm infants better than either of the scores alone.MethodsScores were assessed in preterm infants below 32 completed weeks of gestation. Data were prospectively collected in 20 NICU in 12 countries. Prediction of poor outcome (death, severe/moderate BPD, IVH, CPL and ROP) was used as a surrogate parameter to compare the scores. To compare predictive value the AUC for the ROC was calculated.ResultsOf 2150 eligible newborns, data on 1855 infants with a mean GA of 286/7 ± 23/7 weeks were analyzed. At 1 minute, the Combined-Apgar was significantly better in predicting poor outcome than the Specified- or Expanded-Apgar alone. Of infants with a very low score at 5 or 10 minutes 81% or 100% had a poor outcome, respectively. In these infants the relative risk (RR) for perinatal mortality was 24.93 (13.16-47.20) and 31.34 (15.91-61.71), respectively.ConclusionThe Combined-Apgar allows a more appropriate description of infant’s condition under conditions of modern neonatal care. It should be used as a tool for better comparison of group of infants and postnatal interventions.Trial registrationclinicaltrials.gov Protocol Registration System (NCT00623038). Registered 14 February 2008.Electronic supplementary materialThe online version of this article (doi:10.1186/s12887-015-0334-7) contains supplementary material, which is available to authorized users.

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BackgroundDelivery room management (DR) of the newly born infant should be performed according to international guidelines, but no recommendations are available for an infant’s position immediately after birth. The present study was performed to answer the following questions: 1. How often is DR-management performed in term infants in side position? 2. Is routine DR-management possible in side position? 3. Is there any benefit of side position with respect to agitation or vital parameters?MethodsCross-sectional study of video-recorded DR-management in term newborns delivered by C-section in 2012. Videos were analysed for infant’s position, administered interventions, vital parameters and agitation.Results187 videos were analysed. The Main Position (defined as position spent more than 70% of the time) was “supine” in 91, “side” in 63 and “not determinable” in 33 infants. “Supine” infants received significantly (p < 0.001) more often stimulation (12.5% of the total time) than “side” infants (3.9% of time). There were no differences between both groups with regard to suctioning; CPAP was exclusively (98%) administered in supine position. Newborns on side were less agitated than those on supine. There was a trend towards a better oxygenation in “side” positioned infants (p = 0.055) and significantly (p = 0.04) higher saturation values in “left-sided” infants than “right-sided” infants at 8th minute. “Side” positioned infants reached oxygen saturation values >90% earlier than “supine” positioned infants (p = 0.16).ConclusionsDR-management is feasible in the side position in term infants. Side position seems to be associated with reduced agitation and improved oxygenation. However, it remains unclear whether this represents a causal relationship or an association. The study supports the need for a randomized controlled trial.

An increased risk for type 1 diabetes can be identified using genetic and immune markers. The Freder1k study introduces genetic testing for type 1 diabetes risk within the context of the newborn screening in order to identify newborns with a high risk to develop type 1 diabetes for follow-up testing of early stage type 1 diabetes and for primary prevention trials. Consent for research-based genetic testing of type 1 diabetes risk is obtained with newborn screening. Increased risk is assessed using three single nucleotide polymorphisms for HLA DRB1*03 (DR3), HLA DRB1*04 (DR4), HLA DQB1*0302 (DQ8) alleles, and defined as 1. an HLA DR3/DR4-DQ8 or DR4-DQ8/DR4-DQ8 genotype or 2. an HLA DR4-DQ8 haplotype and a first-degree family history of type 1 diabetes. Families of infants with increased risk are asked to participate in follow-up visits at infant age 6 months, 2 years, and 4 years for autoantibody testing and early diagnosis of type 1 diabetes. After 8 months, the screening rate has reached 181 per week, with 63% coverage of newborns within Freder1k-clinics and 24% of all registered births in Saxony. Of 4178 screened, 2.6% were identified to have an increased risk, and around 80% of eligible infants were recruited to follow-up. Psychological assessment of eligible families is ongoing with none of 31 families demonstrating signs of excessive burden associated with knowledge of type 1 diabetes risk. This pilot study has shown that it is feasible to perform genetic risk testing for childhood disease within the context of newborn screening programs.

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Zusammenfassung Hintergrund. Das Leigh-Syndrom ist eine seltene neurodegenerative Erkrankung, die sich in der Mehrzahl der Fälle im frühen Kindesalter manifestiert.Die Ätiologie des Leigh-Syndroms ist heterogen, und es weist einen variablen Phänotyp auf. Kasuistik. Die Manifestation eines Leigh-Syndroms mit hypertensiver Krise bei einem 8 Jahre alten Mädchen wird beschrieben. Die Patientin zeigte im Anschluss an einen Infekt der oberen Atemwege eine zunehmende Ataxie,wechselnde Vigilanz,intermittierende Ophthalmoplegien,einen rotatorischen Nystagmus und Krampfanfälle.Im kranialen MRT waren Läsionen im Bereich der Basalganglien, des medialen Thalamus und des Mesenzephalons nachweisbar.Im 2.Krankheitsmonat traten deutlich erhöhte Blutdruckwerte auf, die schließlich zu einem krisenhaften Blutdruckanstieg führten und auch unter hoch dosierter i.v.-antihypertensiver Kombinationstherapie kaum zu beherrschen waren.Während des 4.Krankheitsmonats normalisierten sich die Blutdruckwerte wieder, die MRT-Kontrolle zeigte zu diesem Zeitpunkt eine deutliche Größenregredienz v.a.der mesenzephalen Läsionen.Die Mutationsanalyse ergab eine T:C-Punktmutation (nt T8993C) im ATPase-6-Gen der mitochondrialen DNA und bestätigte damit die radiologische Verdachtsdiagnose eines Leigh-Syndroms. Diskussion. Als morphologisches Korrelat der gestörten Kreislaufhomöostase kommen in dem hier beschriebenen Fall am ehesten Originalien Monatsschr Kinderheilkd 2001 · 150:989-995

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