RESUMO
Background: Up until recently, monkeypox (mpox) was considered to be a rare zoonotic infection restricted to Central and West Africa. However, in July 2022, the World Health Organization declared mpox to be a public health emergency of international concern, after there were several outbreaks in non-endemic countries. This study assessed the information channels used by individuals accessing the "Telefono Verde AIDS e Infezioni Sessualmente Trasmesse" of Istituto Superiore di Sanità (National Institute of Health in Italy) with regard to mpox. We also evaluated their awareness, and knowledge about mpox focusing on transmission and prevention. Methods: This is a cross-sectional study conducted on "Telefono Verde AIDS e Infezioni Sessualmente Trasmesse" users, between January and April 2023. The target population was helpline users who were older than 18 years of age, and were phoning the service for the first time (i.e. who have not phoned in the last 12 months). Participants were interviewed using a questionnaire containing 19 questions filled by the interviewer. Collected data were analysed through descriptive statistics, and significance testing. Results: From January to April 2023, "Telefono Verde AIDS e Infezioni Sessualmente Trasmesse" received 2,389 phone calls, 216 of which participated in this study. Most of these were male (85.2%; n=186), single (79.2%; n=171) and in employment (72.2%; n=156). Awareness about mpox was high (71.3%; n=154), with the central and south/islands regional areas having the highest percentage of participants who heard about the virus (84.3%; n=43 vs 72.4%; n=42; p=0.078). Television was the most frequently mentioned source of information about mpox by participants (63%; n=97; p<0.001). This medium was also the most preferred source of information about mpox (39%; n=60; p=0.109). The majority of participants stated that they did not know what mpox is (67.6%; n=146), and less than half knew that it is preventable (42.4%; n=89). Of those who stated that mpox is a preventable illness, less than half knew about the existence of a vaccine (44.9%; n=40; p<0.001). Conclusions: This study provides insights into the awareness, knowledge, prevention tools and information channels of individuals who contacted the "Telefono Verde AIDS e Infezioni Sessualmente Trasmesse". Useful indications for defining future information campaigns were obtained.
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Tangier disease is a rare disorder of lipoprotein metabolism that presents with extremely low levels of HDL cholesterol and apoprotein A-I. It is caused by mutations in the ATP-binding cassette transporter A1 (ABCA1) gene. Clinical heterogeneity and mutational pattern of Tangier disease are poorly characterized. Moreover, also familial HDL deficiency may be caused by mutations in ABCA1 gene. ATP-binding cassette transporter A1 (ABCA1) gene mutations in a patient with Tangier disease, who presented an uncommon clinical history, and in his family were found and characterized. He was found to be compound heterozygous for two intronic mutations of ABCA1 gene, causing abnormal pre-mRNAs splicing. The novel c.1510-1Gâ¯>â¯A mutation was located in intron 12 and caused the activation of a cryptic splice site in exon 13, which determined the loss of 22 amino acids of exon 13 with the introduction of a premature stop codon. Five heterozygous carriers of this mutation were also found in proband's family, all presenting reduced HDL cholesterol and ApoAI (0.86⯱â¯0.16â¯mmol/L and 92.2⯱â¯10.9â¯mg/dL respectively), but not the typical features of Tangier disease, a phenotype compatible with the diagnosis of familial HDL deficiency. The other known mutation c.1195-27Gâ¯>â¯A was confirmed to cause aberrant retention of 25 nucleotides of intron 10 leading to the insertion of a stop codon after 20 amino acids of exon 11. Heterozygous carriers of this mutation also showed the clinical phenotype of familial HDL deficiency. Our study extends the catalog of pathogenic intronic mutations affecting ABCA1 pre-mRNA splicing. In a large family, a clear demonstration that the same mutations may cause Tangier disease (if in compound heterozygosis) or familial HDL deficiency (if in heterozygosis) is provided.
Assuntos
Transportador 1 de Cassete de Ligação de ATP/genética , Hipoalfalipoproteinemias/genética , Mutação , Splicing de RNA/genética , Doença de Tangier/genética , Códon sem Sentido , Família , Feminino , Heterozigoto , Humanos , Íntrons/genética , Masculino , Linhagem , Sítios de Splice de RNA/genéticaRESUMO
We studied 11 autopsied cases of the Eisenmenger malformation, comparing the findings with 11 hearts with intact ventricular septal structures, and nine hearts having perimembranous ventricular septal defects in the absence of aortic overriding. We found variable lengths for the subpulmonary infundibulum in the hearts with Eisenmenger defects. It was well developed in three hearts, of intermediate length in seven, and very short in one of the specimens. The muscular outlet septum was also of variable length compared with the free-standing subpulmonary infundibular sleeve. Except for one, all hearts had fibrous continuity between the aortic and tricuspid valvar leaflets, such that the ventricular septal defect was then perimembranous. In the remaining case, there was a completely subaortic muscular infundibulum, with the ventricular septal defect showing only muscular borders. The medial papillary muscle was absent in the majority of cases, but was well formed in three hearts, all with relatively short muscular outlet septums. We identified mild, intermediate, and severe degrees of rightward rotation of the aortic valve, and these findings correlated with the extent of aortic valvar overriding. In nine of the 11 hearts, the ventriculo-arterial connections were concordant, but there was double-outlet from the right ventricle in the other two specimens. Based on our anatomic and morphometric observations, we conclude that the hearts we have defined as having Eisenmenger defects show marked individual variation in their specific phenotypic anatomy.
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Aorta Torácica/anormalidades , Complexo de Eisenmenger/patologia , Septos Cardíacos/patologia , Ventrículos do Coração/patologia , Modelos Anatômicos , Aorta Torácica/patologia , Cadáver , HumanosRESUMO
The genetic and epigenetic factors underlying the variable penetrance of homoplasmic mitochondrial DNA mutations are poorly understood. We investigated a 16-year-old patient with hypertrophic cardiomyopathy harboring a homoplasmic m.4277T>C mutation in the mt-tRNA(Ile) (MTTI) gene. Skeletal muscle showed multiple respiratory chain enzyme abnormalities and a decreased steady-state level of the mutated mt-tRNA(Ile). Transmitochondrial cybrids grown on galactose medium demonstrated a functional effect of this mutation on cell viability, confirming pathogenicity. These findings were reproduced in transmitochondrial cybrids, harboring a previously described homoplasmic m.4300A>G MTTI mutation. The pathogenic role of the m.4277T>C mutation may be ascribed to misfolding of the mt-tRNA molecule, as demonstrated by the altered electrophoretic migration of the mutated mt-tRNA. Indeed, structure and sequence analyses suggest that thymidine at position 4277 of mt-tRNA(Ile) is involved in a conserved tertiary interaction with thymidine at position 4306. Interestingly, the mutation showed variable penetrance within family members, with skeletal muscle from the patient's clinically unaffected mother demonstrating normal muscle respiratory chain activities and steady-state levels of mt-tRNA(Ile), while homoplasmic for the m.4277T>C mutation. Analysis of mitochondrial isoleucyl-tRNA synthetase revealed significantly higher expression levels in skeletal muscle and fibroblasts of the unaffected mother when compared with the proband, while the transient over-expression of the IARS2 gene in patient transmitochondrial cybrids improved cell viability. This is the first observation that constitutively high levels of aminoacyl-tRNA synthetases (aaRSs) in human tissues prevent the phenotypic expression of a homoplasmic mt-tRNA point mutation. These findings extend previous observations on aaRSs therapeutic effects in yeast and human.
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Cardiomiopatia Hipertrófica/enzimologia , Cardiomiopatia Hipertrófica/genética , Isoleucina-tRNA Ligase/metabolismo , Penetrância , Mutação Puntual , RNA de Transferência de Isoleucina/genética , Adolescente , Sequência de Bases , DNA Mitocondrial/genética , DNA Mitocondrial/metabolismo , Humanos , Isoleucina-tRNA Ligase/genética , Masculino , Mitocôndrias/genética , Mitocôndrias/metabolismo , Dados de Sequência Molecular , RNA de Transferência de Isoleucina/metabolismoRESUMO
The role of volunteer recruitment in HIV vaccine trials has recently been considered particularly with respect to critical issues, such as motivation, psychological assessment and social impact. The preventative and therapeutic phase I trials based on the recombinant biologically active Tat vaccine candidate, sponsored in Italy by the Istituto Superiore di Sanità, included a specific centralised procedure (SCP) developed to support both the sponsor and the volunteers during trial enrolment and conduction. This process, which is an integrated, multidisciplinary, biomedical and psycho-socio-behavioural network, represented a novel and important aspect for the conduction and success of the clinical study. A specific flow of information from the sponsor to the population was developed through the SCP which started from the national announcement of the trials (through a press conference and a press release) to the enrolment of the volunteers. To this aim a telephone counselling intervention was performed to supply the scientific information translated in personalised message, allowing to select potential participants prior to the first contact with the clinical sites. Furthermore, the multi-step procedure contributed in reinforcing the motivation to participation and trial retention, providing important hints for the design of standardised enrolment procedures to be used in clinical studies. Indeed, this methodological approach, which foresees the joined participation of researchers and expert of communication, could be followed in future vaccine trials in order to improve the effectiveness of enrolment procedures.
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Vacinas contra a AIDS/administração & dosagem , Ensaios Clínicos como Assunto/métodos , Produtos do Gene tat/imunologia , Infecções por HIV/prevenção & controle , Participação do Paciente/psicologia , Adolescente , Adulto , Ensaios Clínicos como Assunto/psicologia , Comunicação , Método Duplo-Cego , Feminino , HIV-1/imunologia , Linhas Diretas/estatística & dados numéricos , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Motivação , Cooperação do Paciente , Seleção de Pacientes , Placebos , Adulto JovemRESUMO
BACKGROUND: We conducted an anonymous cross-sectional telephone survey among persons who had never undergone HIV testing to determine their socio-demographic characteristics, behaviour, risk perception and reasons for not being tested. METHODS: A questionnaire was administered to adult callers to the Italian National AIDS Help-Line who reported that they had never been tested for HIV. RESULTS: The study sample consisted of 539 individuals. The individual who does not undergo testing is young (median age 30 years), male (85.5%), unmarried (79.0%), employed (70.1%) and with a high educational level (81.6%). More than two-thirds of the respondents had little or no perception of risk. Among persons who had more than one sexual partner, 47.0% do not use a condom. When dividing the respondents into two groups (i.e. high risk and lower risk), the results showed that the proportion of respondents with a high risk was higher among women (73.1%), among persons >35 years (76.3%) and among persons with a low educational level (77.8%). Individuals who had hadbeen seen in health-care facilities also reported high-risk behaviour. CONCLUSIONS: The results indicate the socio-demographic characteristics, behaviours, risk perception and reasons for not being tested among a sample of callers to Italy's National AIDS Help-Line, and they confirm the necessity of gearing prevention activities towards heterosexuals and young adults with a low perception of risk.
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Síndrome da Imunodeficiência Adquirida/psicologia , Comportamentos Relacionados com a Saúde , Conhecimentos, Atitudes e Prática em Saúde , Comportamento Sexual , Síndrome da Imunodeficiência Adquirida/epidemiologia , Adolescente , Adulto , Estudos Transversais , Testes Diagnósticos de Rotina/estatística & dados numéricos , Feminino , Inquéritos Epidemiológicos , Linhas Diretas , Humanos , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Assunção de Riscos , Fatores Socioeconômicos , Inquéritos e Questionários , Adulto JovemRESUMO
BACKGROUND: It is estimated that, in Italy, 12 000-18 000 (11-13% of 130 000) HIV-infected subjects are not aware of their serostatus. People in this condition may visit the healthcare system multiple times without being diagnosed. If tested on one of these occasions, they could modify their high-risk behaviours and benefit from treatment, factors that reduce HIV transmission. In Italy, no data on HIV testing in the general population are available so far and little is known on the relationship between socioeconomic determinants (at individual and neighbourhood levels) and testing uptake. METHODS: A large anonymous survey was performed in 2012-2014 on more than 10 000 individuals 18-59 years old who underwent 21 public ambulatories in Rome to determine the proportion of subjects tested for HIV and factors related to testing uptake. Subjects' socio-demographic characteristics, sexual orientation, number of sexual partners, HIV risk behaviour, HIV testing uptake were collected by a self-administered questionnaire. Level of area deprivation was measured at the postal code level by the index of social disadvantage (ISD). Multilevel Poisson regressions were carried out to take heterogeneity between clusters (post code and clinics) into account. RESULTS: Among people participating in the study, 58.1% of subjects self-reported to have been tested at least once for HIV. Those who had one high risk behaviour for HIV-infection were 11% more likely to test than those not reporting any, and subjects who had had a STI (sexually-transmitted-infection) in the past were 12% more likely to test than those who had not had a STI. However only 44% (54% among subjects aged 18-35 years) of those with self-reported risks of contracting HIV had been tested at least once in life. This percentage increases, as expected, with the level of education, but, even so, about 40% of university educated subjects self-reporting risks of contracting HIV had never undergone an HIV test. CONCLUSIONS: This study highlights that, while the percentage of subjects tested is even higher than observed in other western nations, only 44% of subjects, self-reporting risks of contracting HIV, had tested at least once in life and about 40% of university educated subjects self reporting risks of contracting HIV had never tested.
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Instituições de Assistência Ambulatorial/estatística & dados numéricos , Atitude Frente a Saúde , Infecções por HIV/epidemiologia , Teste de HIV , Pesquisas sobre Atenção à Saúde , Adolescente , Adulto , Instituições de Assistência Ambulatorial/classificação , Fármacos Anti-HIV/uso terapêutico , Infecções Assintomáticas , Uso de Medicamentos , Escolaridade , Feminino , Infecções por HIV/diagnóstico , Infecções por HIV/tratamento farmacológico , Infecções por HIV/psicologia , Teste de HIV/economia , Teste de HIV/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Ocupações , Projetos Piloto , Áreas de Pobreza , Prevalência , Utilização de Procedimentos e Técnicas , Características de Residência , Assunção de Riscos , Cidade de Roma/epidemiologia , Autorrelato , Comportamento Sexual/estatística & dados numéricos , Parceiros Sexuais , Infecções Sexualmente Transmissíveis/epidemiologia , Adulto JovemRESUMO
BACKGROUND: In Italy, out of 60 millions of inhabitants, 3000 (2700-4000) new HIV infections are estimated each year. As combined antiretroviral therapy (ART) prolongs life for HIV sufferers, the prevalence of HIV-infection is likely to increase over time. Few studies have assessed factors associated with being HIV positive in people accessing public outpatient clinics and, in particular, the influence of socio-economic circumstances on HIV prevalence. This study aims to evaluate the association between subjects' serostatus and socio-economic determinants measured at the individual and neighbourhood levels. METHODS: Data from a large anonymous survey performed in 2012-2014 on more than 10 000 individuals 18-59 years old who underwent 21 public ambulatories in Rome were analysed. Subjects' socio-demographic characteristics, sexual orientation, number of sexual partners, HIV risk behaviour and HIV testing uptake were collected by a self-administered questionnaire. Level of area deprivation was measured at the postal code level by the index of social disadvantage (ISD). Multilevel Poisson regressions were carried out to take heterogeneity between clusters (post code and clinics) into account. RESULTS: Self-reported HIV-prevalence was 2.0% among subjects ever been tested (13.7% for the homosexual/lesbians 7.0% for the bisexual and 1.3% for the heterosexual). About 1% of subjects self-identified as low risk was HIV infected. This prevalence increased up to 2% in the age group 18-34 and up to 5% in the non-heterosexuals (i.e. self- identified homosexuals/lesbians and bisexuals). At the individual level, HIV-prevalence decreased linearly from lowest to highest levels of education. Living in a deprived neighbourhood was not associated with HIV-infection. CONCLUSIONS: Our study confirms high HIV prevalences among homosexuals/lesbians. Some infections occur in subjects who do not report high risk behaviours for HIV transmission.
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Instituições de Assistência Ambulatorial/estatística & dados numéricos , Soroprevalência de HIV , Pesquisas sobre Atenção à Saúde , Adolescente , Adulto , Instituições de Assistência Ambulatorial/classificação , Fármacos Anti-HIV/uso terapêutico , Uso de Medicamentos , Escolaridade , Feminino , Infecções por HIV/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Ocupações , Áreas de Pobreza , Características de Residência , Assunção de Riscos , Cidade de Roma/epidemiologia , Autorrelato , Comportamento Sexual/estatística & dados numéricos , Parceiros Sexuais , Infecções Sexualmente Transmissíveis/epidemiologia , Adulto JovemRESUMO
Papillary fibroelastoma is the third most common primary tumour of the heart that usually involves the cardiac valves. Multiple papillary fibroelastomas are extremely rare. We report a case with multiple valve papillary fibroelastoma which was identified only by intraoperative transoesophageal echocardiography. The patient complained of atypical chest pains. She was affected by coronary artery disease and had previously had a myocardial infarct. This finding dictated a change in the operative approach. The aortic valve resection was performed in addition to coronary revascularization. If the intraoperative transoesophageal echocardiography was not performed, our patient would have had just coronary artery bypass graft surgery, probably without solving the symptoms. Furthermore, in future she would have undergone another cardiac operation for resection of aortic masses and valve replacement. The intraoperative use of Transoesophageal Echocardiography improves the diagnosis and the management of all cardiac surgical patients.
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Doença da Artéria Coronariana/cirurgia , Ecocardiografia Transesofagiana , Fibroma/diagnóstico por imagem , Neoplasias Cardíacas/diagnóstico por imagem , Valva Aórtica , Ponte de Artéria Coronária , Doença da Artéria Coronariana/complicações , Feminino , Fibroma/complicações , Fibroma/cirurgia , Neoplasias Cardíacas/complicações , Neoplasias Cardíacas/cirurgia , Humanos , Período Intraoperatório , Pessoa de Meia-IdadeRESUMO
Italy has a long history of versatility in medical training in which the tension between 'knowing' and 'doing' is a recurrent theme dating from the origins of the first European medical faculties in Bologna in the eleventh century. Italian medical schools are currently undergoing widespread reforms building on two decades of concerted efforts by medical educators to move from traditional teacher and subject-centred degree programmes to integrated student-centred curricula. European higher education policies have helped drive this process. A challenge in these developments is that the adoption of integrated and outcomes-based curricula in medicine requires a discursive shift in teaching practices. While investment in teacher training is essential, it is also important for educational leaders in medicine to communicate a compelling vision of the type of health professional medical schools are aiming to produce. Systematic educational research should accompany this transition to evaluate the process and gauge sustainability. Investigation should also examine how external influences and pressures are calibrated and adapted to the national context and epistemology. The adoption of a common international vocabulary to describe educational processes means Italy will be able to participate more fully in the European medical education debate in future.
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Educação Baseada em Competências/tendências , Currículo/tendências , Educação Médica/tendências , Faculdades de Medicina/tendências , Educação Baseada em Competências/organização & administração , Educação Baseada em Competências/normas , Educação Médica/organização & administração , Educação Médica/normas , União Europeia , Humanos , Itália , Faculdades de Medicina/organização & administração , Faculdades de Medicina/normasRESUMO
In Italy the price setting of medicines reimbursed by the National Health Service is regulated at the central level by AIFA, the national regulatory authority. Prices of non reimbursed medicines are indeed freely established, with some limitations, by pharmaceutical companies. To contain pharmaceutical expenditure and rationalise the whole sector the following measures have been introduced in the past years: a threshold to public pharmaceutical expenditure (PPE); a reference price system (RPS) for off-patent medicines; a pay-back mechanism as an alternative to price cut. In 2008 Italy launched a reform of the pharmaceutical expenditure governance system with the aim to introduce stability and promote development and competitiveness in the pharmaceutical sector.
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Custos de Medicamentos , Farmacoeconomia , Política de Saúde/economia , Reembolso de Seguro de Saúde/economia , Seguro de Serviços Farmacêuticos/economia , Humanos , Itália , Medicamentos sob Prescrição/economia , Cobertura Universal do Seguro de SaúdeRESUMO
Women account for nearly half the people living with HIV worldwide. This situation makes it necessary to improve prevention actions targeting women: the female condom is a good option. The study was conducted, the first in Italy, in a public AIDS Center on a sample of 162 participants (66.7% female, 33.3% men) who requested the HIV test. The objectives were: assess the current knowledge of the female condom; collect information on opinions, impressions and willingness to use the female condom. Participants were administered a Lickert-scale questionnaire after post-test counselling. The results are in line with international studies and show an early positive response, characterized by interest and openness to innovation, followed by resisting to use the female condom.
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Síndrome da Imunodeficiência Adquirida/prevenção & controle , Preservativos Femininos/estatística & dados numéricos , Síndrome da Imunodeficiência Adquirida/transmissão , Adulto , Idoso , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Infecções Sexualmente Transmissíveis/prevenção & controle , Infecções Sexualmente Transmissíveis/transmissão , Inquéritos e QuestionáriosRESUMO
BACKGROUND: The pneumatic precision drills used in maize sowing can release dust owing to abrasion of dressed seed; the drift of dust containing insecticide active ingredients is harmful to honey bees. Therefore, we developed a device for drills that uses partial recirculation and filtration of the air by means of an antipollen and an electrostatic filter. RESULTS: Tests were carried out by simulating the sowing of seed treated with imidacloprid, thiamethoxam, clothianidin and fipronil. Dust released by the drill in different configurations was analysed to assess its mass and active ingredient concentration, size distribution and particle number concentration. In general, particles with a diameter smaller than 2.5 and 10 µm represent about 40 and 75% of the total dust mass respectively. The finest size fraction (<1 µm) contains a higher content of active ingredient. The prototype equipped with both antipollen and electrostatic filters always showed a reduction in dust emission greater than 90% in terms of both total mass and active ingredient amount, with a greater efficiency in the reduction in particles below 4 µm. CONCLUSION: This study presents an engineering solution addressing dust losses during sowing, contributes to the description of abrasion dust fractions and provides suggestions for further development of the prototype. © 2016 Society of Chemical Industry.
Assuntos
Filtros de Ar , Produção Agrícola/instrumentação , Poeira/análise , Produção Agrícola/métodos , Inseticidas/análise , Neonicotinoides/análise , Tamanho da Partícula , Pólen , Pirazóis/análise , Sementes , Zea maysRESUMO
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.
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Autopsia , Morte Súbita Cardíaca/etiologia , Morte Súbita Cardíaca/patologia , Morte Súbita Cardíaca/prevenção & controle , Predisposição Genética para Doença , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Testes de Função Cardíaca , Humanos , Lactente , Masculino , Linhagem , Estudos ProspectivosRESUMO
INTRODUCTION: HIV/AIDS and sexually transmitted infections (STI) have a relevant impact on health and sexual behavior of adolescents and young adults (range of age between 13 and 19 years). The AIDS and sexual transmitted infections (STI) Helpline of the Italian Istituto Superiore di Sanità (National Institute of Health), and also funded by the Italian Ministry of Health, has been active since 1987 providing personalized counselling interventions on HIV/AIDS and STI. AIM AND METHODS: The present study gathered data and questions issues from calls at AIDS/STI Helpline in the period 1987-2014, with the specific aim of assessing the level of awareness and information needs on HIV/AIDS and STI among people aged under 25 years, in relation to potential risky behavior. RESULTS: Data show that young subjects who called the helpline in the period considered are about the 26% of the total users, with a decreasing trend over the years. The 28% of young users reported a "risky behavior" for STI, with a chance statistically higher in the age range 15-19 years and in the MSM (men who have sex with men)/bisexuals users, which tended to decrease in the last years. Of note, a marked increase of the amount of young users not displaying behaviors at risk for HIV or STI has been observed in the years.
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Síndrome da Imunodeficiência Adquirida , Linhas Diretas , Educação de Pacientes como Assunto , Infecções Sexualmente Transmissíveis , Adolescente , Criança , Aconselhamento , Feminino , Humanos , Itália , Masculino , Assunção de Riscos , Sexo sem Proteção , Adulto JovemRESUMO
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.
Assuntos
Morte Súbita Cardíaca/etiologia , Saúde da Família , Mutação , Canal de Liberação de Cálcio do Receptor de Rianodina/genética , Taquicardia Ventricular/genética , Adolescente , Adulto , Calcinose/metabolismo , Cardiomiopatias/metabolismo , Cardiomiopatias/patologia , Criança , Análise Mutacional de DNA , Morte Súbita Cardíaca/patologia , Evolução Fatal , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Miócitos Cardíacos/metabolismo , Miócitos Cardíacos/patologia , Linhagem , Canal de Liberação de Cálcio do Receptor de Rianodina/metabolismo , Taquicardia Ventricular/metabolismo , Taquicardia Ventricular/patologiaRESUMO
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.
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Adolescente , Infecções por HIV/prevenção & controle , Educação em Saúde/organização & administração , Promoção da Saúde/organização & administração , Grupo Associado , Academias e Institutos/organização & administração , Comunicação , Preservativos , Educação/organização & administração , Feminino , Órgãos Governamentais/organização & administração , Educação em Saúde/métodos , Educação em Saúde/estatística & dados numéricos , Promoção da Saúde/métodos , Promoção da Saúde/estatística & dados numéricos , Humanos , Disseminação de Informação , Relações Interinstitucionais , Masculino , Meios de Comunicação de Massa , Psicologia do Adolescente , Cidade de Roma , Sexo Seguro , Educação Sexual/métodos , Educação Sexual/organização & administração , Educação Sexual/estatística & dados numéricos , Estudantes/psicologia , Materiais de EnsinoRESUMO
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.
Assuntos
DNA Mitocondrial/genética , Deleção de Genes , Síndrome de Kearns-Sayre/genética , Terapia a Laser , Microdissecção/métodos , Adulto , DNA Mitocondrial/análise , Complexo IV da Cadeia de Transporte de Elétrons/genética , Complexo IV da Cadeia de Transporte de Elétrons/metabolismo , Feminino , Humanos , Síndrome de Kearns-Sayre/enzimologia , Fibras Musculares Esqueléticas/enzimologia , Fibras Musculares Esqueléticas/patologia , Músculo Esquelético/enzimologia , Músculo Esquelético/patologia , Reação em Cadeia da PolimeraseRESUMO
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.
Assuntos
Anomalias dos Vasos Coronários/patologia , Átrios do Coração/anormalidades , Comunicação Interatrial/patologia , Veia Cava Superior/anormalidades , Adulto , Feminino , Comunicação Interatrial/cirurgia , Humanos , Angiografia por Ressonância Magnética , Resultado do TratamentoRESUMO
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).