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1.
Public Health ; 202: 32-34, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34879320

RESUMO

OBJECTIVES: Along with mistrust toward politics and journalism, the pandemic is amplifying mistrust in healthcare. To explore trust in key professionals among the Italian population, we focused on perceived change in trust during the pandemic. STUDY DESIGN: Nationwide online cross-sectional survey (called COCOS). METHODS: COCOS was conducted in Italy in two periods: the end of the first lockdown (T1: April-May 2020) and the end of 2020 (T2: November-December 2020). Descriptive analyses and multivariable logistic regressions were performed (sample size = 2673). RESULTS: Trust in healthcare workers (HCWs) was reduced in 1.5% of participants (T1) and 2.8% (T2). Trust in scientists/researchers was reduced in 5.8% (T1) and 7.6% (T2). Trust in politicians was reduced in 37.6% (T1) and 52.3% (T2). Trust in journalists was reduced in 41.7% (T1) and 48.3% (T2). Considering multivariable models, participants of the second period, participants who were HCWs, participants with anxiety symptoms, and those experiencing economic struggle due to the pandemic had a higher likelihood of having a reduced trust. The period had the strongest association with reduced trust. CONCLUSIONS: We argue that a central role might be played by the pandemic fatigue. We suggest leading figures should be more aware of the relationship between communication and trust. The pandemic is a real-world experiment in reshaping mediated communication and, although social media play an important role, other approaches might be successful. As a notable part of the population is trusting politicians and media less and less, Italian key professionals should implement initiatives to reinvigorate public support.


Assuntos
COVID-19 , Pandemias , Ansiedade , Estudos Transversais , Humanos , Confiança
2.
Ann Ig ; 33(2): 141-151, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33570086

RESUMO

BACKGROUND: The Italian National Health Service (Servizio Sanitario Nazionale, SSN) is facing relevant challenges due to decreased financing and increased healthcare costs (1). In this complex framework, most of the Italian Medical Doctors, after obtaining their Specialization degree in Public Health, develop their careers in organizational and managerial roles in public and private health organizations, i.e. hospitals, local health units, health districts or national and international agencies (1, 2). Public health technical competencies, in particular policy and management, are of crucial importance to develop, run and support healthcare services. However, some gaps exist between current public health needs and the extent to which Public Health Residents are trained in the above fields (3, 4). STUDY DESIGN: The study is a cross-sectional cognitive survey carried out through a questionnaire sent by e-mail to Residents and Directors of the Italian Schools of Public Health, from May to November 2018. The questionnaire was sent only to the accredited Schools which had all four years of the course running. METHODS: The questionnaire investigated 35 managerial topics divided into 4 macro-areas. It was sent to both Directors of the SPHs and the Residents of 32 Schools. The latter were asked to provide a single collective answer per School. Respondents could assign a score from 1 (topic not addressed at all) to 4 (topic addressed extensively and linked to other related topics) to each item, also taking into account the skills acquired through internships, seminars, etc. that involved all the Residents. RESULTS: Answers were received from the Residents of 30/32 (93.8%) SPHs and from 15/32 (46.9%) of the Directors. Scores given by the Directors were higher than the ones of the Residents for every topic, and for 17 out of 35 items (48.6%) a statistically significant difference has been obtained. In the overall score of 3 macro-areas out of 4 (General issues, Managerial tools and macro-organisational Models) there are statistically significant differences. In Soft skills macro-area, the single scores of all topics are generally low for both Directors and Residents. CONCLUSION: The study shows that the Residents declare a strong need for training improvement in the field pf healthcare organization and management: the median score is equal to or greater than 3 (topic addressed extensively) in only a few answers. The comparison between Directors' and Residents' scores highlights a different perception of the training offered in these areas. The study results could be pivotal for the improvement of the managerial skills provided to the Residents in Public Health of the Country.


Assuntos
Internato e Residência , Saúde Pública , Estudos Transversais , Atenção à Saúde , Humanos , Itália , Saúde Pública/educação , Instituições Acadêmicas , Medicina Estatal , Inquéritos e Questionários
3.
BMC Health Serv Res ; 19(1): 174, 2019 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-30885180

RESUMO

BACKGROUND: Shared Decision Making (SDM) is an approach where clinicians and patients share the best available evidence to make decision and where patients opinions are considered. This approach provides benefits for patients, clinicians and health care system. The aim of the present study is to investigate the patients' perception of their participation in treatment choices and to identify the possible influences of variables in decision aids and therapeutic choices. Furthermore the present study evaluates the impact of SDM on the length of hospital stay and the health expenditure in Piemonte, an Italian region. METHODS: A cross-sectional study was performed in 2016. The patients were selected after hospitalization to clinical and surgical units at the Rivoli and Susa Hospital. Data were collected through the questionnaire and the Hospital Discharge Registers. STROBE guidelines for observational studies were used. A descriptive analysis was conducted. Frequencies and percentages of the categorical variables were reported. Statistical analyses were performed using t-test, chi-square test and Mann-Whitney test. RESULTS: The final sample was made of 174 subjects. More than half of the sample reported a SDM approach. Female gender (p = 0.027) and lower age (p = 0.047) are associated with an increased possibility to report SDM. Receiving "good" or "excellent" information, having their own request fulfilled and their opinions took into account by healthcare professionals, were all found to be predictors for an approach recognized as SDM (p ≤ 0.05). The perception that healthcare professionals spent a proper amount of time with the patients and used an understendable language are factors increase the chance of a "shared" decision process (p ≤ 0.05). The patients trust in the information given by the healthcare professional is not affecting their perception about the decision making process (P = 0.195). No significant difference where recorded in length of stay and hospital expenditure. CONCLUSIONS: The data show the role played by different dimension of the patients-clinician relationship and that the strongest determinant of a perceived shared decision making approach are healthcare professional-depending.


Assuntos
Tomada de Decisões , Tempo de Internação , Participação do Paciente , Adulto , Idoso , Idoso de 80 Anos ou mais , Atitude do Pessoal de Saúde , Atitude Frente a Saúde , Estudos Transversais , Técnicas de Apoio para a Decisão , Feminino , Pessoal de Saúde , Hospitalização , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Fatores Socioeconômicos , Inquéritos e Questionários , Adulto Jovem
4.
Hum Vaccin Immunother ; 15(4): 918-931, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30633626

RESUMO

Currently, many countries are dealing with groups refusing available recommended vaccinations. Despite several studies having demonstrated the efficacy of mandatory vaccinations in ensuring herd immunity, opposition is widespread. The aim of our study was to systematically review published studies evaluating attitudes towards mandatory vaccination programs. PubMed and Scopus scientific databases were searched and 4,198 results were returned, of these 29 met the inclusion criteria. Twenty-two studies assessed attitudes towards mandatory vaccination programs in general, while 9 papers focused specifically on the Human Papilloma Virus (HPV) vaccine. Most of the studies were performed in Europe and North America. According to the assessed studies, the majority of the population seems to be in favour of compulsory vaccinations, although attitudes differed among studies. The results presented in this review could be an important starting point to further understand the issue of vaccine hesitancy and support the implementation of effective vaccination strategies.


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Programas de Imunização , Programas Obrigatórios , Vacinação/legislação & jurisprudência , Vacinação/psicologia , Europa (Continente) , Humanos , Imunidade Coletiva , Programas de Imunização/legislação & jurisprudência , América do Norte , Recusa de Vacinação , Vacinas/administração & dosagem
5.
Vaccine ; 36(23): 3368-3374, 2018 05 31.
Artigo em Inglês | MEDLINE | ID: mdl-29729995

RESUMO

BACKGROUND: Vaccine hesitancy is a considerable issue in European countries and leads to low coverage rates. After a long debate, Italy has made vaccination mandatory for admission to its schools. METHODS: In the NAVIDAD study (a cross-sectional multicentre study), a 63-item questionnaire was administered to 1820 pregnant women from 15 Italian cities. The questionnaire assessed the interviewee's opinion on mandatory vaccines, as well as their socioeconomic status, sources of information about vaccines, confidence in the Italian National Healthcare Service (NHS), and intention to vaccinate their newborn. RESULTS: Information sources play a key role in determining the opinion on restoration of mandatory vaccines; in particular, women who obtained information from anti-vaccination movements are less likely to accept the vaccines (OR: 0.35, 95% CI: 0.21-0.58, p < 0.001). Women who had confidence in healthcare professional information agreed more on mandatory vaccination than did the other women (OR: 2.66, 95% CI: 1.62-4.36, p < 0.001); those who perceived that healthcare professionals have economic interest in child immunization and who declared that healthcare providers inform only on vaccinations benefits not on risks were less likely to agree on compulsory vaccination (OR: 0.66, CI 95%: 0.46-0.96, p = 0.03; OR: 0.66, CI 95%: 0.46-0.95, p = 0.03, respectively). CONCLUSION: Information sources and confidence towards health professionals are the main determinants of acceptance of mandatory vaccine restoration. To increase the acceptability of the restoration and reduce vaccine hesitancy, these aspects need to be strengthened.


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Programas de Imunização , Programas Obrigatórios , Gestantes/psicologia , Adolescente , Adulto , Estudos Transversais , Feminino , Pessoal de Saúde , Ribonucleoproteínas Nucleares Heterogêneas , Humanos , Itália , Programas Obrigatórios/organização & administração , Análise Multivariada , Gravidez , Fatores Socioeconômicos
6.
Clin Psychol Rev ; 58: 49-58, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28993103

RESUMO

OBJECTIVE: Literature shows bibliotherapy can be helpful for moderate depression treatment. The aim of this systematic review is to verify the long-term effects of bibliotherapy. METHODS: After bibliographic research, we included RCTs articles about bibliotherapy programme treatment of depression published in English language between 1990 and July 2017. All RCTs were assessed with Cochrane's Risk of Bias tool. RESULTS: Ten articles (reporting 8 studies involving 1347 subjects) out of 306 retrieved results were included. All studies analyze the effects of bibliotherapy after follow-up periods ranging from 3months to 3years and show quiet good quality in methods and analyses. The treatment was compared to standard treatments or no intervention in all studies. After long-term period follow-ups, six studies, including adults, reported a decrease of depressive symptoms, while four studies including young people did not show significant results. CONCLUSION: Bibliotherapy appears to be effective in the reduction of adults depressive symptoms in the long-term period, providing an affordable prompt treatment that could reduce further medications. The results of the present review suggest that bibliotherapy could play an important role in the treatment of a serious mental health issue. Further studies should be conducted to strengthen the evidence of bibliotherapy's efficacy.


Assuntos
Biblioterapia/métodos , Depressão/terapia , Avaliação de Resultados em Cuidados de Saúde , Ensaios Clínicos Controlados Aleatórios como Assunto , Humanos
9.
J Med Genet ; 43(4): 353-61, 2006 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-16199537

RESUMO

BACKGROUND: Karyotype analysis has been the standard method for prenatal cytogenetic diagnosis since the 1970s. Although highly reliable, the major limitation remains the requirement for cell culture, resulting in a delay of as much as 14 days to obtaining test results. Fluorescent in situ hybridisation (FISH) and quantitative fluorescent PCR (QF-PCR) rapidly detect common chromosomal abnormalities but do not provide a genome wide screen for unexpected imbalances. Array comparative genomic hybridisation (CGH) has the potential to combine the speed of DNA analysis with a large capacity to scan for genomic abnormalities. We have developed a genomic microarray of approximately 600 large insert clones designed to detect aneuploidy, known microdeletion syndromes, and large unbalanced chromosomal rearrangements. METHODS: This array was tested alongside an array with an approximate resolution of 1 Mb in a blind study of 30 cultured prenatal and postnatal samples with microscopically confirmed unbalanced rearrangements. RESULTS: At 1 Mb resolution, 22/30 rearrangements were identified, whereas 29/30 aberrations were detected using the custom designed array, owing to the inclusion of specifically chosen clones to give increased resolution at genomic loci clinically implicated in known microdeletion syndromes. Both arrays failed to identify a triploid karyotype. Thirty normal control samples produced no false positive results. CONCLUSIONS: Analysis of 30 uncultured prenatal samples showed that array CGH is capable of detecting aneuploidy in DNA isolated from as little as 1 ml of uncultured amniotic fluid; 29/30 samples were correctly diagnosed, the exception being another case of triploidy. These studies demonstrate the potential for array CGH to replace conventional cytogenetics in the great majority of prenatal diagnosis cases.


Assuntos
Aberrações Cromossômicas , Doenças Fetais/diagnóstico , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Diagnóstico Pré-Natal/métodos , Feminino , Doenças Fetais/genética , Genoma Humano , Humanos , Gravidez , Sensibilidade e Especificidade
10.
Mol Hum Reprod ; 10(11): 839-46, 2004 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-15361554

RESUMO

The quantitative fluorescent PCR (QF-PCR) assay, introduced during the last few years, allows prenatal diagnoses of common chromosome aneuploidies in a few hours after sampling. We report the first assessment of QF-PCR performed on a large cohort of 18,000 consecutive clinical specimens analysed in two different Centres. All samples were analysed by QF-PCR using several selected STR markers together with amelogenin and, occasionally, SRY for fetal sexing. Results were compared with those obtained by conventional cytogenetic analysis. In 17,129 tests, normal fetuses were detected by QF-PCR. No false positives were observed. All 732 cases of trisomy 21, 18, 13, triploidies, double trisomies as well as all but one fetuses with X and Y aneuploidies were correctly diagnosed. Chromosome mosaicism could also be suspected in several samples. In some cases of in vitro culture failures, QF-PCR was the only evidence of fetal X, Y, 21, 18 and 13 chromosome complement. QF-PCR proved to be efficient and reliable in detecting major numerical chromosome disorders. The main advantages of the molecular assay are its very low cost, speed and automation enabling a single operator to perform up to 40 assays per day. QF-PCR relieves anxiety of most parents within 24 h from sampling and accelerates therapeutic interventions in the case of an abnormal result. In countries where large scale conventional cytogenetics is hampered by its high cost and lack of technical expertise, QF-PCR may be used as the only prenatal diagnostic test.


Assuntos
Aneuploidia , Cromossomos Humanos/genética , Reação em Cadeia da Polimerase , Diagnóstico Pré-Natal/métodos , Feminino , Humanos , Repetições Minissatélites/genética , Gravidez
11.
Gynecol Oncol ; 89(3): 522-5, 2003 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-12798722

RESUMO

BACKGROUND: Cervical cancer usually spreads by direct infiltration and disseminates by lymphatic and hematogenous pathways. The common sites of distant metastases are the lungs, liver, and bones. Other rare metastatic sites have been previously described including only one case of oral cavity metastasis. CASE: We present here the second case of a patient with apparent oral cavity metastasis from cervical cancer. By cloning specific human papilloma virus (HPV) genomic regions, the two lesions showed HPV genomic sequences from different viruses (18 and 33, for the uterine cervix and the oral cavity, respectively), thus indicating the oral lesion as a synchronous second primary tumor. CONCLUSION: The use of molecular markers to distinguish between a secondary and a primary lesion is recommendable in cervical cancer, particularly when reporting rare site metastases.


Assuntos
Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/secundário , Neoplasias Bucais/diagnóstico , Neoplasias Bucais/secundário , Neoplasias Primárias Múltiplas/diagnóstico , Papillomaviridae/genética , Neoplasias do Colo do Útero/diagnóstico , Idoso , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/virologia , Diagnóstico Diferencial , Feminino , Humanos , Neoplasias Bucais/virologia , Neoplasias Primárias Múltiplas/patologia , Neoplasias Primárias Múltiplas/virologia , Infecções por Papillomavirus/complicações , Infecções por Papillomavirus/virologia , Infecções Tumorais por Vírus/complicações , Infecções Tumorais por Vírus/virologia , Neoplasias do Colo do Útero/patologia , Neoplasias do Colo do Útero/virologia
12.
Int J Cancer ; 94(5): 711-6, 2001 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-11745467

RESUMO

Infection with high-risk human papillomavirus (HPV) is necessary for the development of a cervical lesion, but only a fraction of precursor lesions progress to cancer. Additional factors, other than HPV type per se, are likely to increase the probability for progression. Intratype genome variations have been reported to be associated with viral persistence and the development of a major cervical disease. We have recently shown that the prevalence of specific HPV16-E6 variants in invasive cervical cancer (ICC) varies between Italian and Swedish women. To extend our initial study we have analyzed E6 variants in cervical lesions from Czech women, ranging from low-grade cervical intraepithelial neoplasia (LCIN) to ICC and scaled up the sample size of our initial study of Swedish and Italian women. In addition, we have correlated the cases of cancers with human leukocyte antigen (HLA) class II haplotypes. In line with our earlier observation, the distribution of specific HPV16-E6 genotypes in CIN and ICC varied in the 3 cohorts. For instance, the HPV16-E6 L83V variant, which has been found to be positively associated with ICC in Swedish women (p = 0.002), was more prevalent in LCIN than in ICC in Italian and Czech women (p = 0.01 and = 0.03, respectively). These data indicate that host genetic factors, such as HLA polymorphism, may determine the potential oncogenicity of the HPV16-E6 L83V variant. Indeed, the DR04-DQ03 haplotype, which is approximately 3-fold more abundant in the normal Swedish population than in those in Italy and the Czech Republic, was found to be positively associated with HPV16-E6 L83V in the 3 cohorts investigated (p = 0.01). This observation may explain why L83V is a risk factor more in Sweden than in the other 2 countries.


Assuntos
Genes MHC da Classe II , Haplótipos , Polimorfismo Genético , Proteínas Repressoras , Neoplasias do Colo do Útero/virologia , Estudos Transversais , República Tcheca , Feminino , Genótipo , Humanos , Itália , Proteínas Oncogênicas Virais/genética , Proteínas E7 de Papillomavirus , Suécia , Linfócitos T Citotóxicos/imunologia , Neoplasias do Colo do Útero/imunologia
13.
Cancer Res ; 61(2): 608-11, 2001 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-11212257

RESUMO

Risk factors other than human papillomavirus (HPV) infection per se for cervical cancer development have been investigated recently. It was suggested that HPV 16 E6 variants and the p53 codon 72 arginine polymorphism could be progression markers. Indeed, it has been demonstrated that specific E6 variants and p53 arginine were both enriched in cancer. However, especially with regard to the latter, divergent results have been reported. Our aim was thus to investigate whether p53 arginine is important for cervical carcinogenesis by scaling up samples of the two European cohorts, the initial results of which were reported previously. In addition, we have assessed the occurrence of p53 codon 72 arginine, in combination with specific HPV 16 E6 genotypes. We found p53 arginine to be increased in cancer of both cohorts, consistent with our previous concept. Although specific E6 genotypes increased gradually with the severity of the lesion, p53 arginine was enriched in cancer only. Moreover, the frequency of the arginine allele was similar in groups with different E6 genotypes. It is concluded that p53 arginine is a risk factor for cervical cancer but probably acts independently of E6 variants.


Assuntos
Proteínas Oncogênicas Virais/genética , Proteínas Repressoras , Proteína Supressora de Tumor p53/genética , Displasia do Colo do Útero/patologia , Neoplasias do Colo do Útero/patologia , Arginina/genética , Códon/genética , Estudos de Coortes , Estudos Transversais , Análise Mutacional de DNA , DNA de Neoplasias/química , DNA de Neoplasias/genética , Feminino , Genótipo , Humanos , Itália , Invasividade Neoplásica , Papillomaviridae/genética , Infecções por Papillomavirus/genética , Infecções por Papillomavirus/virologia , Polimorfismo Genético , Polimorfismo Conformacional de Fita Simples , Fatores de Risco , Suécia , Infecções Tumorais por Vírus/genética , Infecções Tumorais por Vírus/virologia , Neoplasias do Colo do Útero/genética , Neoplasias do Colo do Útero/virologia , Displasia do Colo do Útero/genética , Displasia do Colo do Útero/virologia
14.
Pathologica ; 92(6): 516-23, 2000 Dec.
Artigo em Italiano | MEDLINE | ID: mdl-11234302

RESUMO

INTRODUCTION: Many studies have already shown the association of persistent infection of human high risk papillomavirus (HPV) with the development of pre-invasive and invasive cervical disease. MATERIALS AND METHODS: We evaluated the use of high risk HPV testing in a study of about 1908 women, aged 29-78, who attending, from 1996 to 1998, the Sant'Anna Hospital in Turin for routine, second level smears and histopathological diagnosis. We considered all cervical lesions: ASCUS, LSIL, HSIL, squamous and adeno invasive cancers. HPV testing was performed by polymerase chain reaction (PCR) using L1 consensus primers which can detect almost all infections (high and low risk types). The most important high risk HPV types (16, 18, 31, 33 and 35) were tested using specific primers. RESULTS: The prevalence of high risk HPV was: ASCUS 42.2%, LSIL 39%, HSIL 73.5%, squamous invasive cancers 98.3% and adeno 100%. In addition HPV 16 is the most represented type in all lesions: ASCUS 40%, LSIL 62%, HSIL 71.2% squamous invasive cancers 73.3% and adeno 50.6%. In addition we study the mean age of cervical cancer onset compared with the different high risk HPV types. We found that HPV 18 related cancer occurs in younger women (mean age 41 years; range 39-42). CONCLUSIONS: The addition of high risk HPV testing to cytology may improve early identification of women at risk for cervical cancer.


Assuntos
Adenocarcinoma/virologia , Carcinoma de Células Escamosas/virologia , Papillomaviridae/patogenicidade , Infecções por Papillomavirus/virologia , Infecções Tumorais por Vírus/virologia , Displasia do Colo do Útero/virologia , Neoplasias do Colo do Útero/virologia , Adenocarcinoma/epidemiologia , Adulto , Idoso , Carcinoma de Células Escamosas/epidemiologia , Sequência Consenso , Primers do DNA , Sondas de DNA de HPV , DNA de Neoplasias/análise , DNA Viral/análise , Feminino , Humanos , Itália/epidemiologia , Pessoa de Meia-Idade , Papillomaviridae/classificação , Papillomaviridae/isolamento & purificação , Infecções por Papillomavirus/epidemiologia , Reação em Cadeia da Polimerase , Prevalência , Risco , Sorotipagem , Especificidade da Espécie , Manejo de Espécimes , Infecções Tumorais por Vírus/epidemiologia , Neoplasias do Colo do Útero/epidemiologia , Integração Viral , Displasia do Colo do Útero/epidemiologia
15.
Lancet ; 354(9174): 218-9, 1999 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-10421306

RESUMO

Swedish and Italian women with HPV 16-positive cervical disease were checked for codon 72 polymorphisms of p53. In both groups, arginine homozygotes were enriched in cancer compared with controls and precursor lesions.


Assuntos
Carcinoma de Células Escamosas/genética , Genes p53/genética , Papillomaviridae/isolamento & purificação , Polimorfismo Conformacional de Fita Simples , Displasia do Colo do Útero/genética , Neoplasias do Colo do Útero/genética , Carcinoma de Células Escamosas/virologia , Estudos de Casos e Controles , Códon , Feminino , Genótipo , Humanos , Itália , Suécia , Neoplasias do Colo do Útero/virologia , Displasia do Colo do Útero/virologia
17.
Eur J Cancer ; 33(9): 1479-83, 1997 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-9337692

RESUMO

Six hundred and thirty primary breast cancer were screened for abnormalities in exons 5, 6, 7 and 8 of the TP53 tumour suppressor gene. Analysis of the structure of the TP53 gene exons was performed with the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) method and with direct sequencing of amplified DNA. In a breast tumour case from a postmenopausal patient, we found a deletion of 36 bp in intron 5 and no immunohistochemical staining for p53. We amplified and sequenced the cDNA region between exons 4 and 7 and showed that the deletion causes the skipping of exon 6. The resulting mRNA sequence had a frameshift that yields an inactive protein with a truncated C terminus. These results show the first example of intronic deletion causing exon skipping at the TP53 gene level.


Assuntos
Neoplasias da Mama/genética , Éxons/genética , Deleção de Genes , Genes p53 , Íntrons/genética , Sequência de Bases , Análise Mutacional de DNA , DNA de Neoplasias/genética , Eletroforese em Gel de Ágar , Feminino , Humanos , Dados de Sequência Molecular
18.
Pathologica ; 89(4): 446-8, 1997 Aug.
Artigo em Italiano | MEDLINE | ID: mdl-9471615

RESUMO

We describe a case of Toxoplasma gondii lymphoadenopathy in an intramammary lymph node in a 22 year old woman. Clinical evidence and ultrasound were suggestive for fibroadenoma, while cytology on fine needle aspiration suspected a lymphomatous lesion. The pathological examination demonstrated a lymph node with granulomatous foci with epithelioid histiocytes, consistent with Toxoplasma gondii lymphadenopathy. The pathological finding was confirmed by serological tests and by PCR (Polymerase Chain Reaction) using specific primers designed on ribosomal 18s DNA sequence of Toxoplasma gondii. The aim of this work is to emphasize the role of molecular biology techniques as an aid to pathological diagnosis in parasite diseases.


Assuntos
Doenças Mamárias/diagnóstico , Neoplasias da Mama/diagnóstico , Fibroadenoma/diagnóstico , Doença de Hodgkin/diagnóstico , Linfadenite/diagnóstico , Reação em Cadeia da Polimerase , Toxoplasmose/diagnóstico , Adulto , Animais , Doenças Mamárias/parasitologia , Doenças Mamárias/patologia , DNA de Protozoário/análise , DNA Ribossômico/análise , Diagnóstico Diferencial , Feminino , Humanos , Leishmaniose/diagnóstico , Linfadenite/parasitologia , Linfadenite/patologia , RNA de Protozoário/genética , RNA Ribossômico 18S/genética , Toxoplasma/genética , Toxoplasma/isolamento & purificação , Toxoplasmose/parasitologia , Toxoplasmose/patologia
19.
Pathologica ; 87(6): 723-5, 1995 Dec.
Artigo em Italiano | MEDLINE | ID: mdl-8927442

RESUMO

We report on prenatal diagnosis of a fetus with thanatophoric dysplasia type 1 at 20 weeks gestation. The ultrasonographic examination showed shortened bowed limbs, narrow chest, relatively large head, protuberant abdomen, and hydramnios. Radiological and histological studies confirmed the aborted fetus had thanatophoric dysplasia. The differential prenatal diagnosis with other skeletal dysplasia is discussed.


Assuntos
Doenças Fetais/diagnóstico por imagem , Displasia Tanatofórica/diagnóstico por imagem , Ultrassonografia Pré-Natal , Aborto Terapêutico , Adulto , Diagnóstico Diferencial , Feminino , Doenças Fetais/genética , Idade Gestacional , Humanos , Osteocondrodisplasias/diagnóstico , Gravidez , Displasia Tanatofórica/genética
20.
Minerva Pediatr ; 43(1-2): 3-5, 1991.
Artigo em Italiano | MEDLINE | ID: mdl-2034192

RESUMO

Using a direct colorimetric method the concentration of magnesium in amniotic liquid was determined in 150 pregnant women at gestational ages ranging from 9 to 41 weeks. Results revealed a men value of 1.7 mg/dl (s = 0.39).


Assuntos
Líquido Amniótico/química , Magnésio/análise , Amniocentese , Colorimetria , Feminino , Idade Gestacional , Humanos , Gravidez , Valores de Referência
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