Search PubMed⌕ Search

Biomedical subjects

Sebastiano Bianca

Publications and source records attributed to Sebastiano Bianca.

27 records · Page 2Linked to original sources
PubMedDate not supplied

Pathology of coronary narrowing after arterial switch operation: autopsy findings in two patients who died within 3 months of surgical treatment and review of the literature.

The arterial switch operation (ASO) has become the surgical treatment of choice for transposition of the great arteries (TGA). Myocardial ischemia owing to coronary complication remains the commonest cause of mortality and morbidity following ASO. The main clinical manifestations of coronary obstruction reported after a switch procedure are heart failure, arrhythmias, or sudden death. Coronary complications are responsible for about 50% of early death and for almost all late deaths. We describe pathologic and anatomic findings in two cases of late sudden death after an ASO. Critical intimal thickening and acute take-off of coronary trunks were the main pathological substrates of death. Histological examination revealed an obstructive coronary proliferation characterised by a concentric stratum of intimal smooth muscle cell hyperplasia with preserved tunica media. Pathogenetic assessment of intimal coronary lesions after an ASO should consider the role of endothelium and vascular parietal wall in the unavoidable response to injury caused by arterial reconstruction. Since a rapidly progressive proliferative disease is suspected, to explain coronary narrowing, understanding endothelial biology and improving surgical technique should help to prevent late coronary events.

Cardiovascular Surgical Procedures↗
PubMedDate not supplied

Preventing neural tube defects in Europe: a missed opportunity.

Each year, more than 4500 pregnancies in the European Union are affected by neural tube defects (NTD). Unambiguous evidence of the effectiveness of periconceptional folic acid in preventing the majority of neural tube defects has been available since 1991. We report on trends in the total prevalence of neural tube defects up to 2002, in the context of a survey in 18 European countries of periconceptional folic acid supplementation (PFAS) policies and their implementation. EUROCAT is a network of population-based registries in Europe collaborating in the epidemiological surveillance of congenital anomalies. Representatives from 18 participating countries provided information about policy, health education campaigns and surveys of PFAS uptake. The yearly total prevalence of neural tube defects including livebirths, stillbirths and terminations of pregnancy was calculated from 1980 to 2002 for 34 registries, with UK and Ireland estimated separately from the rest of Europe. A meta-analysis of changes in NTD total prevalence between 1989-1991 and 2000-2002 according to PFAS policy was undertaken for 24 registries. By 2005, 13 countries had a government recommendation that women planning a pregnancy should take 0.4mg folic acid supplement daily, accompanied in 7 countries by government-led health education initiatives. In the UK and Ireland, countries with PFAS policy, there was a 30% decline in NTD total prevalence (95% CI 16-42%) but it was difficult to distinguish this from the pre-existing strong decline. In other European countries with PFAS policy, there was virtually no decline in NTD total prevalence whether a policy was in place by 1999 (2%, 95% CI 28% reduction to 32% increase) or not (8%, 95% CI 26% reduction to 16% increase). The potential for preventing NTDs by periconceptional folic acid supplementation is still far from being fulfilled in Europe. Only a public health policy including folic acid fortification of staple foods is likely to result in large-scale prevention of NTDs.

Adult↗
PubMedDate not supplied

Hyperphenylalaninemia and birth weight.

Hyperphenylalaninemias (HPAs) are due to autosomal recessive inherited deficiency of phenylalanine hydroxylase and include three different biochemical and clinical phenotypes: classic phenylketonuria, mild phenylketonuria and persistent HPA. Recently the relationship between birth weight and HPA has been investigated. We performed an evaluation of birth weight in our 260 HPA patients. Our results do not support the view that birth weight is reduced in HPA patients and we found no correlation between birth weight and severity of the disease. Only a better knowledge of genetic mechanisms involved in HPA can clarify the interaction between HPA and fetal development.

Birth Weight↗
PubMedDate not supplied

Non-allelic heterogeneity in familial unilateral renal adysplasia.

We report three families with dominant unilateral renal adysplasia without vesico-ureteral reflux. No dysmorphia or anomalies were evident in the reproductive system. Ophthalmological examination excluded the presence of optic nerve coloboma or other ocular anomalies. No mutations were detected in the EMX(2) and in PAX(2) genes of affected members. Other homeobox genes could be responsible for this anomaly in these three families.

Adult↗
PubMedDate not supplied

Gerstmann-Sträussler-Scheinker disease with P102L-V129 mutation: a case with psychiatric manifestations at onset.

Gerstmann-Sträussler-Scheinker disease (GSS) is an adult onset, rare, genetically determined autosomal dominant prion disease. Clinically, it is characterized predominantly by slowly progressive spino-cerebellar dysfunction with ataxia, absent reflexes in the legs and cognitive impairment. Onset is usually in the fifth decade and in the early phase, ataxia is predominant. Mutations in the prion protein gene (PRNP) had been identified and the most important of these is at codon 129. A genotype-phenotype relationship with genetic polymorphism at residue 129 between methionine and valine has been supposed. We describe a patient with GSS and P102L-V129 mutation in which the onset with prominent psychiatric features characterized by apathy and depression and not with cerebellar sign and the clinical course with seizures, nor observed in P102L-V129 cases, allow us to confirm observations that the GSS caused by the 102 mutation is influenced by the codon 129 polymorphism with a specific genotype-phenotype influence, but probably other additional factors might be considered as background for phenotypic variability.

Adult↗
PubMedDate not supplied

Elevated incidence of hypospadias in two sicilian towns where exposure to industrial and agricultural pollutants is high.

We found significant elevated incidence of hypospadias in two towns in Southeastern Sicily selected on the basis of the presence of intense industrial (Augusta) and agricultural (Vittoria) activities. Cases and controls were chosen in records collected from a surveillance system on abnormal live births in the same area and in a large city (Catania) located in an area at low risk of exposure to environmental pollutants. From 1991 to 1998, 16 cases of isolated hypospadias were recorded among male live births in Augusta (12.1 per 1000 male live births) and 24 cases in Vittoria (7.4 per 1000 male live births) with an incidence significantly higher than that expected (3.2 per 1000 in Southeastern Sicily). Relative risks in Augusta and Vittoria were 3.8 (95% confidence interval: 2.16-6.14) and 2.3 (95% confidence interval: 1.48-3.43; P=0.00003 and 0.04, respectively). In Augusta, the incidence of hypospadias was higher than in Vittoria. Significant log odds ratios were found for occupational exposure in fathers both in Augusta and Vittoria (P=0.0478 and 0.026, respectively). However, daily contact with pollutants in Augusta may not be sufficient by itself to determine hypospadias and other factors might be involved. Similar factors may act also in Vittoria. Thus, contact with large amounts of pesticides is, by itself, a risk factor for hypospadias, though genetic and other environmental factors might be involved.

Agriculture↗
PubMedDate not supplied

[Surveillance of congenital malformations in Italy: an investigation in the province of Siracusa].

OBJECTIVE: The study describes briefly the current situation of the surveillance of congenital anomalies in Italy and gives an insight into the province of Siracusa in order to better characterise health status of populations residing in an area at high environmental risk. PARTICIPANTS: The authors, who coordinate the Italian registries of congenital malformations, have collaborated with the Eastern Sicily Registry of congenital malformations (ISMAC) and the registry of diseases of the Siracusa province. DESIGN AND SETTING: Data collected by the ISMAC Registry were used to calculate the prevalence of malformed newborns, resident in the municipalities of the province of Siracusa between 1991-2000. This prevalence was compared to that observed in the rest of the Siracusa province (RSP), in the whole area covered by the ISMAC Registry (ESR) and to the mean prevalence at birth of the North-East, Emilia Romagna, Toscana and Campania Registries (IR). Comparisons were made for all malformations and for groups of malformations (with the exclusion of groups with a 10 year frequence <10 cases in the province of Siracusa). In addition, heterogeneity among the municipalities of the province and temporal trends were statistically tested. MAIN OUTCOME MEASURES: Total, groups and specific congenital malformations. RESULTS: Results were statistically borderline considering all malformations when the Priolo-Augusta-Melilli area was compared to IR and ESR (standardized morbidity ratio SMR(IR)=1.1, SMR(ESR)=1.2) and statistically significant when compared to RSP (prevalences ratio PR(RSP)=1.9). Significant excesses resulted in this area also for hypospadias (SMR(IR)=1.9, SMR(ESR)=2.4, PR(RSP)=2.5) and anomalies of the digestive system (SMR(IR)=2.1, SMR(ESR)=1.9, PR(RSP)=2.6). CONCLUSION: Following these results a case-control study on malformations observed in excess has been activated and a protocol for the surveillance of sensitive diseases in areas at environmental risk is being elaborated.

Catchment Area, Health↗
PubMedDate not supplied

[Congenital malformations in newborns residing in the municipality of Gela (Sicily, Italy)].

OBJECTIVE: to conduct an epidemiological descriptive study on malformed newborns residing in the Municipality of Gela during 1991-2002 to compare theprevalences observed with those reported by the registries operating in Sicily, in Italy and in the scientific literature. DESIGN AND SETTING: epidemiological descriptive study in the area of the Municipality of Gela, (Sicily, Italy). MATERIALS: information on congenital anomalies occurred in livebirths and stillbirths residing in the Municipality of Gela were obtained from different sources: local hospital statistics, general paediatricians list of patients, the Sicilian Registry of Congenital Malformations (ISMAC), hospital discharge records of Catania University Hospital, previous investigation data, the Gela Hospital Obstetrics Department archive. RESULTS: 520 malformed cases out of 13060 newborns were ascertained, accounting for a prevalence rate of 398/10000 total births, approximately 2 times significantly higher than those reported by the Sicilian Registry ISMAC (182/10000) and the Italian registries (205/10000). The annual distribution resulted significantly heterogeneous for all malformed cases and for cardiovascular, limb and external genitalia malformations. Significant excesses for anomalies of central nervous system, cardiovascular system, urinary tract, digestive, teguments and total malformations were found, with observed/expected ratios ranging from 1.5 to 6.0 or from 1.3 to 3.4 when compared with ISMAC or Italian registries respectively. When specific malformations where analysed, significant excesses for male hypospadias and diaphragmatic hernia were found. The occurrence of hypospadias, 56.7/10000 births, was 2.5 times significantly higher than the reference rates. CONCLUSION: the observed hypospadias birth rate is amongst the most elevated ever reported in literature. A low diagnostic specificity (many false positives) may explain the relevant increase of newborns diagnosed with microcephaly. Results reinforce the hypothesis ofa causal role of risk factors present in the Gela area on the etiology of malformations and address the need for further insights into the excesses found, for consolidation of the registration action andfor implementation of a health and environment local surveillance system able to monitor sensitive diseases in areas considered at environmental risk. A retrospective case-control study on disease excesses is being completed.

Catchment Area, Health↗