Influence of slope of rise and event order of aircraft noise events on high resolution actimetry parameters

Zusammenfassung: Starts und Landungen in der Nacht sind bei den meisten Verkehrsflughäfen durch eine Nachtflugsperre eingeschränkt. Die Empfindlichkeit der Bevölkerung, durch Fluglärm im Schlaf gestört zu werden, ist daher zu Randzeiten, also abends und morgens, besonders gross. In einer experimentellen Feldstudie bei Anwohnern in der Umgebung des Flughafens Zürich untersuchten wir die Wirkung von Fluglärmereignissen auf Körperreaktionen vor dem Aufwachen am Morgen. Dabei wurden in den Schlafzimmern der Versuchspersonen zuvor aufgezeichnete Fluglärm-Geräusche abgespielt. Mit einem nichtinvasiven Aufzeichnungsverfahren für schlafphysiologische Parameter (Hochauflösende Aktimetrie-, Herz- und Atemparameter) wurden Körperbewegungen ereigniskorreliert registriert. Die Resultate ergaben, dass vor allem die ersten paar Lärmereignisse am frühen Morgen die stärksten Reaktionen evozierten und diese mit zunehmender Anzahl erlebter Lärmereignisse abnehmen, was vermuten lässt, dass die zuvor erlebte Anzahl Überflüge eine systematische Wirkung hat, insbesondere wenn die Ereignisse innerhalb kurzer Zeitintervalle auftreten. Es zeigte sich auch, dass die Motilität von der Anstiegsgeschwindigkeit des Schallpegels abhängt, steilere Anstiegsflanken - wie sie typischerweise direkt unterhalb von Landeanflugschneisen auftreten - erzeugen stärkere Bewegungsreaktionen. Dies ist im Einklang mit einer neueren Untersuchung über den Zusammenhang zwischen nächtlichem Flug- und Eisenbahnlärm und Aufwachwahrscheinlichkei

Microcephaly and macrocephaly. A study on anthropometric and clinical data from 308 subjects

Head circumference is the auxological parameter that most correlates with developmental anomalies in childhood. Head circumference (HC) two standard deviations (SD) below or above the mean defines microcephaly and macrocephaly, respectively. The aim of this retrospective study was to explore anthropometric parameters and clinical characteristics among subjects with abnormalities in HC who had been referred for developmental assessment. One hundred and sixty four subjects with microcephaly and 144 subjects with macrocephaly were enrolled from birth to 18 months of age. Head circumference at birth and the association with variables related to maternal health status, gestational age, growth pattern, brain imaging and clinical characteristics were analyzed. In some cases, an etiological diagnosis was made. In the two considered conditions, we found different anthropometric and clinical associations, some of which were statistically significant, with implications for ongoing neurodevelopmental surveillance

Necrotizing enterocolitis in the preterm: newborns medical and nutritional Management in a Single-Center Study

Necrotizing enterocolitis (NEC) is a typical disorder of preterm newborns, with a high mortality and morbidity rate. The therapeutic and nutritional management of disease depends on several factors. Its prognosis is linked, in addition to the severity of the disease and the need for surgery, to a correct enteral feeding in these patients. This study aims to identify the clinical characteristics of 18 patients with NEC, evaluating the different therapeutic paths undertaken, the type of formula used and the survival rate of this population. Average time of enteral nutrition before the NEC onset was 11,3 ± 11,6 days, with an average fasting period since the onset of 24 ± 18.9 days. 77.8% of patients received surgery and resumed enteral nutrition 17.7 ± 17.9 days after the intervention. The overall survival rate of our cohort was 55.5%. More prospective studies are needed to evaluate the long-term outcomes of survived children with NEC

Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles

BACKGROUND: Rearrangements of unstable DNA sequences may alter the structural integrity or the copy number of dose-sensitive genes, resulting in copy number variations. They may lead more frequently to deletions, in addition to duplications and/or inversions, which are the underlying pathogenic mechanism of a group of conditions known as genomic disorders (or also contiguous gene syndromes). Interstitial deletions of the short arm of chromosome 1 are rare, and only about 30 patients have been reported. Their clinical features are variable, in respect of the extent of the deleted region. They include global developmental delay, central nervous system (CNS) malformations, craniosynostosis, dysmorphic face, ocular defects, cleft palate, urinary tract anomalies and hand/foot abnormalities. CASE PRESENTATION: Hereby, we report on an Italian female newborn with craniosynostosis, facial dysmorphisms including bilateral microphthalmia and coloboma, cleft palate, and a severe global developmental and growth delay, associated to a 1p31.3p22.2 deletion of 20.7 Mb. This was inherited from the healthy mother, who was carrier of a smaller (2.6 Mb) deletion included within the centromeric region (1p22.3p22.2) of the same rearrangement, in addition to a translocation between chromosomes 1p and 4q. The deleted region of the proband contains about ninety genes. We focus on the genotype-phenotype correlations. CONCLUSIONS: The results of the present study further confirm that microdeletions at 1p31.3 constitute a contiguous gene syndrome. It is hard to establish whether the critical rearrangement of such syndrome may involve the centromeric band p22.3p22.2, or more likely do not, also in light of the genomic profile of the healthy mother of our patient. Neonatologists and pediatricians should take into consideration 1p31 microdeletion in cases of developmental and growth delay associated to craniosynostosis, peculiar facial dysmorphisms, cleft palate and hand/foot abnormalities. The present report provides new data about 1p31 microdeletion syndrome, in view of a better characterization of its genomic and phenotypic profile