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Pietro Gallo

Publications and source records attributed to Pietro Gallo.

11 recordsLinked to original sources

Sudden cardiac death in younger adults: autopsy diagnosis as a tool for preventive medicine.

Sudden death in children and younger adults can be caused by potentially heritable cardiovascular disorders, and the fatal outcome is often the first symptom in apparently healthy subjects. In these cases, a careful autopsy becomes the sole diagnostic tool to guide the clinical screening of the families. The aims of the present study were (1) to assess the pathological substrate of sudden cardiac death in children and younger adults (age, 1-40 years) in a large prospective series using strict morphological criteria; and (2) to perform cardiological assessment of the relatives of the deceased subjects with cardiomyopathies or structurally normal hearts, potentially consistent with a heritable cardiac disease. We studied 100 consecutive cases. Autopsy findings included coronary artery disease (30%, atherosclerotic in the majority of cases), cardiomyopathies (22%), and various cardiac abnormalities (28%). In the remaining 20% of cases, the presence of significant morphological abnormalities of the heart was ruled out. Twenty of 42 families in which the heart of the proband was either affected by a cardiomyopathy or failed to show significant structural abnormalities could be contacted and provided informed consent to cardiological assessment. A potentially inherited cardiac disease was diagnosed in 4 (20%). Molecular genetic analysis was restricted to 3 of these families and revealed a mutation in the ryanodine receptor type 2 gene (RyR2) in 1. Our results underline the implication of autopsy findings for relatives and the importance of cardiological screening of family members to uncover familial cardiomyopathies or genetic arrhythmias and to adopt the proper therapeutic and preventive strategies. Genetic testing is still time consuming and costly: accordingly, it should be restricted only to selected cases.

Adolescent↗

Adiponectin expression in human epicardial adipose tissue in vivo is lower in patients with coronary artery disease.

BACKGROUND: Intra-peritoneal adipose tissue is recognized as a predictor of metabolic syndrome and may contribute to the risk for cardiovascular disease by the production of adipocytokines, including adiponectin. Nevertheless, there is no knowledge on whether other visceral depots of adipose tissue, including the epicardial fat, have any metabolically active role, including production of adiponectin. AIM OF THE STUDY: We sought to evaluate adiponectin protein expression in epicardial adipose tissue in vivo both in patients with severe coronary artery disease (CAD) and in subjects without CAD. METHODS: Twenty-two patients were enrolled for the study. We selected 16 patients who underwent elective coronary artery bypass graft surgery for critical CAD, 5 who underwent surgery for valve replacement and 1 for correction of an interatrial defect. Epicardial adipose tissue biopsy samples were obtained before the initiation of cardiopulmonary bypass. Adiponectin protein level in epicardial adipose tissue was evaluated by Western blotting. RESULTS: Adiponectin protein value, expressed as adiponectin/actin ratio, in epicardial adipose tissue was significantly lower in patients with severe CAD than in those without CAD (1.42 +/- 0.77 vs 2.36 +/- 0.84 p = 0.02, 95% CI 0.64-1.74). CONCLUSIONS: This study showed for the first time that human epicardial adipose tissue expresses adiponectin. Adiponectin expression is significantly lower in epicardial fat isolated from patients with CAD.

Adiponectin↗

Juvenile sudden death in a family with polymorphic ventricular arrhythmias caused by a novel RyR2 gene mutation: evidence of specific morphological substrates.

We report on a family with a history of sudden death and effort-induced polymorphic ventricular arrhythmias. The index case was a 17-year-old boy who died suddenly and at postmortem had evidence of fibrofatty replacement in the right ventricular free wall, consistent with arrhythmogenic right ventricular cardiomyopathy, as well as calcium phosphate deposits within the myocytes. A molecular genetics investigation carried out in the paraffin-embedded myocardium of the subject and in blood samples of family members disclosed a missense mutation in exon 3 (230C-->T; A77V) of the cardiac ryanodine receptor type 2 gene. The carriers showed effort-induced polymorphic ventricular tachycardia in the setting of normal resting electrocardiogram and trivial echocardiographic abnormalities, consistent with catecholaminergic polymorphic ventricular tachycardia. The observation of both arrhythmogenic right ventricular cardiomyopathy type 2 and catecholaminergic polymorphic ventricular tachycardia in the same family suggests that the two entities might correspond to different degrees of phenotypic expression of the same disease. This experience underscores the importance of a precise autopsy diagnosis in the case of sudden cardiac death, including molecular genetics, and the mission of pathologists to guide further clinical investigation of family members.

Adolescent↗

[Youth and HIV: information campaigns by and for adolescents].

This article describes a pilot project carried out in collaboration between the Istituto Superiore di Sanita and the Azienda Sanitaria Locale Roma E without any specific funding. The aim was to take a group of adolescents and provide them with a grounding in both HIV/AIDS infection and social communication, and with the instruments necessary to develop an informative campaign with other adolescents as the target group. The project was divided into three phases: sessions for raising levels of HIV/AIDS information and awareness involving 702 secondary school students; workshops to provide 120 selected students with communication and advertising know-how, to allow them to develop an HIV/AIDS infection information campaign targeted at their peers; a final event for the presentation of the students' findings. Prevention was the focus of the adolescents' resulting products, with particular attention to condoms as means of protection. The target population was judged as best influenced by channels such as posters and television ads, and the resulting messages were cartoon based, both ironic and fun yet accompanied by strong and direct statements designed to shock the viewer. The methods used in the project turned out to be particularly suitable for giving importance to the input of the participants who went from being publicity targets to developers.

Academies and Institutes↗

[Italian public and non-governmental organisations related to HIV/AIDS infection and migrant populations].

This work is the result of two surveys carried out to obtain an overview of the specific types of activities conducted by public institutions and non-governmental organisations (NGO) with regard to HIV infection and AIDS among migrant populations in Italy. The results reveal that the types of services offered to migrant populations differ when comparing public institutions to NGOs. Public institutions mainly provide services related to medical-health issues, whereas NGOs focus on social assistance and acceptance. Both types of organisations report problems in communicating to migrant populations information on HIV infection, sexually transmitted diseases, prevention, and therapy, which is a critical issue in the relationship between the psycho-social-health operator and the foreigner.

Acquired Immunodeficiency Syndrome↗

Detection of deleted mitochondrial DNA in Kearns-Sayre syndrome using laser capture microdissection.

A novel 4949-base pair mitochondrial DNA (mtDNA) deletion was detected in various tissues in a postmortem study of a patient with Kearns-Sayre syndrome (KSS). Deleted mtDNA levels were higher in skeletal muscle and brain and lower in kidney, working myocardium, and endocrine tissues (thyroid, parathyroids, pancreas, and adrenal glands). The distribution of the deletion in skeletal muscle and conducting myocardium was analyzed by means of laser capture microdissection (LCM). In skeletal muscle, the abundance of deleted mtDNA was slightly higher in cytochrome c oxidase (COX)-negative fibers (70%) than in COX-positive fibers (64%), whereas in the conducting myocardium it was lower in the atrioventricular node (9%) than in the sinus node and bundle of His (30% and 32%, respectively). In this study, LCM proved to be a reliable technique for a more accurate assessment of genotype/phenotype correlation when investigating mtDNA-related disorders.

Adult↗

Neonatal Williams syndrome presenting as an isolated supravalvular pulmonary stenosis.

An infant with normal facies and none of the extracardiac anomalies usually associated with Williams syndrome presented at birth with an echocardiographic pattern of supravalvular pulmonary stenosis and displastic pulmonary valve. A clinical reappraisal was planned at 3 months of age, but the girl died suddenly at home at 2 months of age. At autopsy, both ventricles were hypertrophic, and the valves showed mild dysplasia. The walls of the great arteries were thick, with a "washed leather" consistency, but there was no gross evidence of discrete stenosis. The histologic mosaic appearance of the media of the great arteries, due to elastosis and extreme disarray of the elastic lamellae, prompted a postmortem diagnosis of supravalvar aortic stenosis and suggested a diagnosis of Williams syndrome, which was subsequently confirmed by fluorescence in situ hybridization. Pediatricians and pathologists should be alerted that Williams syndrome in the newborn may present as an isolated supravalvular pulmonary stenosis, whereas supravalvular aortic stenosis becomes clinically significant only a few months later.

Aortic Stenosis, Supravalvular↗

[HIV prevention and adolescents: a sample survey on Italian high school students].

This article resulted from a survey carried out by some researchers of the Telefono Verde AIDS (TVA-National AIDS Help-Line) of the Istituto Superiore di Sanità, with the collaboration of some colleagues of the Segreteria per le Attività Culturali. It is also a summary of strategies of intervention against HIV/AIDS for young people implemented by the Italian Ministry of Health. The study was developed within the context of the workshops on HIV/AIDS education carried out since 1995 by some researchers of TVA. These workshops fall within some other initiatives arranged by the Segreteria per le Attività Culturali for the diffusion of scientific and technological information. Our study aimed at assessing the level of knowledge on HIV/AIDS among some different high-school students. Data processing points out a widespread and quite good level of knowledge on HIV/AIDS in general and particularly on ways of transmission and prevention measures. Results obtained could not be generalized because the sample involved in the survey represented a privileged target, already sensitive to the issues concerning HIV infection and AIDS dealt with in the context of specific teaching programmes.

Adolescent↗

Blue rubber bleb nevus syndrome and pulmonary hypertension: an unusual association.

INTRODUCTION: Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital systemic angiodysplasia with multiple vascular malformations in the skin, gastrointestinal tract and, less often, in other internal organs and the brain. CASE REPORT: A 36-year-old man with past history of BRBNS was admitted to our hospital for progressive dyspnea and fatigue. Primary pulmonary hypertension (PPH) was diagnosed. He then developed acute abdominal pain and dyspnea, dying in a few hours due to sudden cardiac arrest. Postmortem examination demonstrated angiomatous lesions located in the skin, small bowel, heart, lungs, liver and thyroid. The lesions were slightly raised, soft and compressible and microscopically consisted of dilated vascular channels lined by a flattened endothelium. The vascular wall was formed by several layers of smooth muscle cells, intermixed with abundant aggregates of elastic lamellae and thin collagen fibers. Luminal thrombi were a frequent finding. In the small bowel, we identified the presence of an abnormally large artery directly opening into a thin-walled venous channel. The most striking finding in the lungs was the presence of thrombi of varying age in the lumen of segmental and elastic arteries, as well as muscular arteries and arterioles. Severe medial hypertrophy of muscular arteries and muscolarization of arterioles were also present. Intimal proliferative lesions and plexiform lesions were never observed. CONCLUSION: The pulmonary findings are consistent with recurrent thromboembolic events from shunts in the visceral lesions. To our knowledge, this is the first report of BRBNS with visceral arterovenous (AV) fistulae complicated by thromboembolic pulmonary hypertension (PH).

Adult↗

Cardinal vein isomerism: an embryological hypothesis to explain a persistent left superior vena cava draining into the roof of the left atrium in the absence of coronary sinus and atrial septal defect.

BACKGROUND: A persistent left superior vena cava (PLSVC) is a relatively frequent systemic venous anomaly associated with congenital heart defects. This anomaly has been explained with the persistence of the left superior cardinal vein. PLSVC usually drains into the right atrium, via coronary sinus, but it joins the left atrium in approximately 8% of the cases either directly in the setting of atrial isomerism, or via an unroofed coronary sinus, or through a coronary sinus type atrial septal defect. CASE REPORT: We describe a case of an adult patient with atria in the situs solitus, PLSVC draining into the left atrium, atresia of coronary sinus without atrial septal defect, and with additional cardiac anomalies (ventricular septal defect and discrete subaortic stenosis). CONCLUSION: A possible embryological explanation to this case rises from a right partial isomerism of the superior cardinal veins, which gives reason for both the coexistence of the PLSVC draining into the left atrium and the absence of coronary sinus, atrial septal defect, or coronary sinus ostium.

Adult↗