Inherited metabolic disorders in Cyprus.

Selective screening for inherited metabolic disorders (IMD) began in Cyprus in 1990. Over the last thirty-three years 7388 patients were investigated for IMD and 200 diagnoses were made (diagnostic yield 2.7%). The existence of a single laboratory of Biochemical Genetics for the whole island facilitated the creation of a national registry for IMD. The minimal prevalence of IMD in Cyprus is 53.3 cases per 100,000 live births. The most common group are disorders of amino acid metabolism (41.0%), followed by disorders of carbohydrate metabolism (16.5%), disorders of complex molecule degradation (16.5%), mitochondrial disorders (10.5%) and disorders of vitamin and co-factor metabolism (5.5%). Hyperphenylalaninaemia is the most common IMD (14.0%) followed by galactosaemia (7.0%), glutaric aciduria type I (5.5%) and MSUD (4.0%). Some disorders were found to have a relatively high incidence in specific communities, for example Sandhoff disease among the Cypriot Maronites and GM1 gangliosidosis in one particular area of the island. Other disorders were found to have a relatively higher overall incidence, compared to other Caucasian populations, for example galactosaemia, glutaric aciduria type I and MSUD, while fatty acid oxidation defects, Gaucher disease and classic PKU were found to have a relatively lower incidence. Molecular characterization of selected disorders revealed many novel genetic variants, specific to the Cypriot population.

EMPATHIC-N in a Greek-Cypriot sample: confirming its factorial structure.

BACKGROUND: Family-centered care has been receiving increased attention during the last decades and health professionals recognize family satisfaction with care as an important health indicator. The Empowerment of Parents in The Intensive Care-Neonatology (EMPATHIC-N) is a newly developed, yet empirically reliable and valid measure for the assessment of parental satisfaction with the care provided by Neonatal Intensive Care Units (NICU). The present study aims to present the Greek version of the EMPATHIC-N and to confirm its factorial structure. METHODS: The EMPATHIC-N was translated in Greek using a forward-backward translation and was piloted before use. A sample of 256 families receiving intensive care at the NICU of Archbishop Makarios III Public Hospital in Cyprus which is the only NICU in Cyprus, participated in the validation study of the EMPATHIC-N. Confirmatory factor analyses were performed using SPSS and AMOS 24.0. RESULTS: The Greek version of the EMPATHIC-N had good psychometric characteristics (Cronbach's alpha = .87). The CFAs for the separate subscales of professionalism, organization, information, parental involvement and intervention for the EMPATHIC-N showed that all five subscales represented five distinct components of parental satisfaction with care. The CFA of the general instrument supported that a second-order model with a higher-order factor reflecting the organizational structure (professionalism, intervention and organization loaded on this factor) fitted the data best [χ2 (259) = 405.332, p < .001, ΤLI = .887, CFI = .903, RMSEA = .065 (90% CI .058, .073), SRMR = .0597]. CONCLUSIONS: EMPATHIC-N is a valid and reliable measure for the assessment of parental satisfaction with neonatal care in a Greek-Cypriot context. The organizational dimension of the NICUs is an important component with specific research and clinical implications for the enhancement of parental satisfaction with care.

First outbreak of nosocomial Legionella infection in term neonates caused by a cold mist ultrasonic humidifier.

BACKGROUND: To date, all descriptions of legionellosis in neonates have emerged from a small number of isolated case reports in newborns with unusually severe pneumonia. In December 2008, a large outbreak of Legionella infection occurred in term neonates in Cyprus, providing new information on the epidemiological and clinical features of Legionellosis in this age group. METHODS: An environmental investigation was performed at a small private hospital where the infected neonates were delivered. The medical records of the infected neonates were retrospectively reviewed to obtain clinical data on presentation, complications, and course of disease. RESULTS: Nine of the 32 (28%) newborns who were exposed to the contaminated source at the private nursery were infected with Legionella. Six subjects had pulmonary infiltrates, but in 3 cases there were no abnormal radiological findings and clinical presentation was mild. In 4 neonates, pulmonary infiltrates at presentation were bilateral and extensive and 3 died, conferring a mortality rate of 50% in subjects with pulmonary infiltrates and an overall mortality of 33.3%. Legionella pneumophila serogroup 3 was recovered in neonatal biological samples, although in some patients there was implication of a second strain, serogroup 1. It was determined that the neonates were infected while in the nursery at the private hospital by aerosol produced by a recently installed cold-mist humidifier that was filled with contaminated water. CONCLUSIONS: Use of humidifiers in nursery units must be avoided as the risk of disseminating Legionella in neonates is very high. In neonates legionellosis should be suspected when signs of infection first appear and take an unusual course, even when no pulmonary infiltrates appear.