Pierpaolo Mastroiacovo

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BACKGROUND Trend data for causes of child death are crucial to inform priorities for improving child survival by and beyond 2015. We report child mortality by cause estimates in 2000-13, and cause-specific mortality scenarios to 2030 and 2035. METHODS We estimated the distributions of causes of child mortality separately for neonates and children aged(More)
PURPOSE We present a case-control study of seven polymorphisms of six genes involved in homocysteine/folate pathway as risk factors for Down syndrome. Gene-gene/allele-allele interactions, haplotype analysis and the association with age at conception were also evaluated. METHODS We investigated 94 Down syndrome-mothers and 264 control-women from Campania,(More)
A descriptive epidemiological study of hypospadias has been made utilizing data from seven malformation surveillance systems round the world: Denmark, Hungary, Italy, Mexico, South America, Spain, and Sweden. The joint material represents 8,122 boys with hypospadias, 7,419 of which were "isolated", that is, with no other known malformation except those(More)
The spectrum of the VATER association has been debated ever since its description more than two decades ago. To assess the spectrum of congenital anomalies associated with VATER while minimizing the distortions due to small samples and referral patterns typical of clinical series, we studied infants with VATER association reported to the combined registry(More)
Infants with cyclopia or sirenomelia are born at an approximate rate of 1 in 100,000 births. Eight malformation monitoring systems around the world jointly studied the epidemiology of these rare malformations: 102 infants with cyclopia, 96 with sirenomelia, and one with both conditions were identified among nearly 10.1 million births. Maternal age is(More)
OBJECTIVES To evaluate the effectiveness of policies and recommendations on folic acid aimed at reducing the occurrence of neural tube defects. DESIGN Retrospective cohort study of births monitored by birth defect registries. SETTING 13 birth defects registries monitoring rates of neural tube defects from 1988 to 1998 in Norway, Finland, Northern(More)
We report on a clinical-genetic study of 16 Wolf-Hirschhorn syndrome (WHS) patients. Hemizygosity of 4p16.3 was detected by conventional prometaphase chromosome analysis (11 patients) or by molecular probes on apparently normal chromosomes (4 patients). One patient had normal chromosomes without a detectable molecular deletion within the WHS "critical(More)
OBJECTIVE Because there are no studies available on the safety of venlafaxine during pregnancy, the authors' goal in this study was to determine whether venlafaxine increases the risk for major malformations. METHOD Data on 150 women exposed to venlafaxine during pregnancy in seven pregnancy counseling centers were compared with data from studies of(More)
Our objective was to evaluate the frequency and type of malformations associated with gastroschisis in a large pool of international data, to identify malformation patterns, and to evaluate the role of maternal age in non-isolated cases. Case-by-case information from 24 registries, all members of the International Clearinghouse for Birth Defects(More)