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1.
Euro Surveill ; 16(40)2011 Oct 06.
Artigo em Inglês | MEDLINE | ID: mdl-21996379

RESUMO

Since 18 August 2011, 17 cases of travel-associated Legionnaires' disease have been reported. They were tourists from five European countries who had stayed in five accommodation sites in Lazise, Italy. The dates of symptom onset ranged from 18 July to 25 August 2011. Control measures were implemented and no further cases associated with stays at the sites have been reported after disinfection. Timely notification of any further cases potentially associated with stay in Lazise is recommended.


Assuntos
Surtos de Doenças , Doença dos Legionários/epidemiologia , Viagem , Adulto , Idoso , Técnicas de Tipagem Bacteriana , Acampamento , Exposição Ambiental , Feminino , Habitação , Humanos , Itália/epidemiologia , Legionella pneumophila/classificação , Legionella pneumophila/isolamento & purificação , Doença dos Legionários/microbiologia , Masculino , Pessoa de Meia-Idade , Microbiologia da Água
2.
Breast ; 34: 65-72, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28521178

RESUMO

PURPOSE: The new ASCO/CAP guidelines published in 2013 (AC2013) significantly modified the scoring criteria for HER2-FISH, introducing the most controversial change to the HER2-equivocal category. We retrospectively evaluated the impact of AC2013 in a cohort of consecutive invasive breast cancers (IBCs) analyzed with frontline dual-color FISH. METHODS: 2788 consecutive IBCs were reclassified based on the AC2013 guidelines. Clinico-pathological features of equivocal IBCs were compared with HER2-negative and HER2-positive IBCs. FISH HER2-equivocal cases underwent reflex tests: HER2-IHC, RARA-FISH, and SMS-FISH. Overall and disease-free survivals were evaluated in AC2007 HER2-positive patients treated with trastuzumab and in patients that became eligible for target-therapy according to AC2013. RESULTS: Two-hundred HER2-negative cases (7.2%) were classified differently, following AC2013: 0.3% (8/2788) became HER2-positive and 6.9% (192/2788) HER2-equivocal. AC2013, compared with AC2007, significantly increased initial HER2-equivocal cases (6.9%vs1.6%, p < 0.001). AC2013 equivocal-IBCs affected older patients and showed pathological features between HER2-negative and HER2-positive IBCs. After reflex tests, 102 of the 190 equivocal cases (53.7%) were reclassified as HER2-positive, 51 (26.8%) as negative and 37 (19.5%) as equivocal. IHC tested negative in 44.7% of cases, whereas SMS-FISH showed the highest percentage of positive results (45.8%). Clinical outcomes showed no statistically significant differences. CONCLUSION: Overall, 80.5% of FISH-equivocal cases were solved with at least one reflex test and 3.6% of patients became AC2013 HER2-positive, therefore eligible for target-therapy, but showed clinical outcomes similar to HER2-positive patients treated with trastuzumab. Our data belittle the clinical impact of AC2013 HER2-equivocal reclassification; further prospective randomized clinical studies are necessary to support these findings.


Assuntos
Neoplasias da Mama/genética , Carcinoma Ductal de Mama/genética , Receptor ErbB-2/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Antineoplásicos Imunológicos/uso terapêutico , Neoplasias da Mama/tratamento farmacológico , Neoplasias da Mama/metabolismo , Neoplasias da Mama Masculina/genética , Neoplasias da Mama Masculina/metabolismo , Carcinoma Ductal de Mama/tratamento farmacológico , Carcinoma Ductal de Mama/metabolismo , Aberrações Cromossômicas , Cromossomos Humanos Par 17 , Intervalo Livre de Doença , Feminino , Dosagem de Genes , Testes Genéticos/normas , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente/métodos , Masculino , Pessoa de Meia-Idade , Guias de Prática Clínica como Assunto , Receptor ErbB-2/metabolismo , Receptor alfa de Ácido Retinoico/genética , Estudos Retrospectivos , Síndrome de Smith-Magenis/genética , Taxa de Sobrevida , Trastuzumab/uso terapêutico , Adulto Jovem
3.
Cancer Res ; 61(3): 896-9, 2001 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-11221877

RESUMO

Aberrant crypt foci (ACF) are microscopic clusters of altered colonic crypts considered premalignant lesions in the large bowel. Genomic instability at short tandem repeats in the DNA, referred to as microsatellite instability (MSI) is the hallmark of hereditary nonpolyposis colorectal carcinoma (HNPCC) caused by mutations in DNA mismatch-repair genes, mostly hMLH1 and hMSH2. In this study, we evaluated for MSI ACF (n = 16), adenomas (n = 18), carcinomas (n =22), and lymph node metastases (n = 3) from 17 patients with colorectal cancer positive for MSI. Ten patients were members of HNPCC families; 7 patients had no family history of cancer. MSI was found in 7 of 7 (100%) ACF and 11 of 12 (91%) adenomas from patients with HNPCC. MSI was not related to histology and size of ACF. A progressive increase in instability as estimated by the number of shifted bands was observed along the ACF-adenoma-carcinoma sequence. In contrast, two of nine (22%) ACF and none of six adenomas from patients with MSI sporadic carcinoma were unstable at microsatellite loci. hMLH1 or hMSH2 protein expression was altered only in MSI-positive premalignant lesions (ACF and/or adenomas), but not in all MSI-positive lesions in patients with HNPCC. These observations provide evidence of the premalignant nature of ACF in HNPCC and suggest that MSI is a very early event both in HNPCC and in sporadic colorectal carcinogenesis, although in the latter it seems infrequent.


Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais Hereditárias sem Polipose/metabolismo , Neoplasias Colorretais/genética , Neoplasias Colorretais/metabolismo , Proteínas de Ligação a DNA , Proteínas de Neoplasias/biossíntese , Proteínas Proto-Oncogênicas/biossíntese , Proteínas Adaptadoras de Transdução de Sinal , Adenoma/genética , Adenoma/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Pareamento Incorreto de Bases , Proteínas de Transporte , Humanos , Mucosa Intestinal/metabolismo , Mucosa Intestinal/patologia , Repetições de Microssatélites/genética , Pessoa de Meia-Idade , Proteína 1 Homóloga a MutL , Proteína 2 Homóloga a MutS , Proteínas de Neoplasias/genética , Proteínas Nucleares , Lesões Pré-Cancerosas/genética , Lesões Pré-Cancerosas/metabolismo , Proteínas Proto-Oncogênicas/genética
4.
J Clin Oncol ; 19(19): 3944-50, 2001 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-11579115

RESUMO

PURPOSE: Germline mutations in mismatch repair genes predispose to hereditary nonpolyposis colorectal cancer (HNPCC). To address effective screening programs, the true incidence of the disease must be known. Previous clinical investigations reported estimates ranging between 0.5% and 13% of all the colorectal cancer (CRC) cases, whereas biomolecular studies in Finland found an incidence of 2% to 2.7% of mutation carriers for the disease. The aim of the present report is to establish the frequency of the disease in a high-incidence area for colon cancer. PATIENTS AND METHODS: Through the data of the local CRC registry, we prospectively collected all cases of CRC from January 1, 1996, through December 31, 1997 (N = 391). Three hundred thirty-six CRC cases (85.9% of the incident cases) were screened for microsatellite instability (MSI) with six to 12 mono- and dinucleotide markers. MSI cases were subjected to MSH2 and MLH1 germline mutation analysis and immunohistochemistry; the methylation of the promoter region was studied for MLH1. RESULTS: Twenty-eight cases (8.3% of the total) showed MSI. MSI cases differed significantly from microsatellite-stable (MSS) cases for their proximal location (P <.01), high mucinous component (P <.01), and poor differentiation (P =.002). Of MSI cases studied (n = 12), only one with a family history compatible with HNPCC had a germline mutation (in MSH2). Five other patients with a family history of HNPCC (two with MSI and three with MSS tumors) did not show germline mutations. CONCLUSION: We conclude that the incidence of molecularly confirmed HNPCC (one [0.3%] of 336) in a high-incidence area for CRC is lower than in previous biomolecular and clinical estimates.


Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/epidemiologia , Neoplasias Colorretais Hereditárias sem Polipose/genética , Proteínas de Ligação a DNA , Proteínas Adaptadoras de Transdução de Sinal , Adulto , Idoso , Idoso de 80 Anos ou mais , Proteínas de Transporte , Neoplasias Colorretais Hereditárias sem Polipose/metabolismo , Análise Mutacional de DNA , Feminino , Predisposição Genética para Doença , Testes Genéticos , Mutação em Linhagem Germinativa , Humanos , Imuno-Histoquímica , Incidência , Masculino , Repetições de Microssatélites/genética , Pessoa de Meia-Idade , Proteína 1 Homóloga a MutL , Proteína 2 Homóloga a MutS , Proteínas de Neoplasias/biossíntese , Proteínas de Neoplasias/genética , Proteínas Nucleares , Estudos Prospectivos , Proteínas Proto-Oncogênicas/biossíntese , Proteínas Proto-Oncogênicas/genética , Sistema de Registros
6.
Opt Lett ; 32(21): 3164-6, 2007 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-17975631

RESUMO

The influence of each cross-section geometric parameter on hollow-core Bragg fiber guiding properties has been numerically investigated. Fabricated fibers have been modeled, giving insight into the spectral behavior of the confinement loss. It has been verified that, by changing the amount of silica and air in the fiber cladding, it is possible to change the reflection conditions undergone by the field within the core, thus shifting the confinement loss spectrum.

9.
J Opt Soc Am A Opt Image Sci Vis ; 22(8): 1655-61, 2005 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-16134863

RESUMO

The modal cutoff of square-lattice photonic crystal fibers with a finite number of air-hole rings has been accurately investigated to our knowledge for the first time. By analyzing the leaky behavior of the second-order mode, we have obtained a phase diagram that describes the regions of single-mode and multimode operation as well as the endlessly single-mode regime. Furthermore, starting from these results, we have obtained the cutoff normalized frequency according to two different formulations of the V parameter previously adopted for fibers with a triangular lattice. A final comparison of the cutoff properties of fibers characterized by a square lattice and a triangular lattice has been carried out.

10.
Aging (Milano) ; 13(2): 105-11, 2001 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-11405383

RESUMO

The aim of this study was to assess the specificity and total positive rate of head-up tilt testing (HUTT) potentiated with sublingual nitroglycerin in detecting the vasovagal origin of unexplained syncope in the elderly, since the diagnostic value of this non-invasive test has not yet been proven in this age group. In a period of 3 years, 128 elderly patients (mean age 71.6+/-5.1 years, 50% males) with syncope of unknown origin, and 101 control subjects matched for age and gender were tilted upright to 60 degrees for 45 minutes. If syncope did not occur, sublingual nitroglycerin (0.4 mg) was administered, and observation was continued for 20 minutes. The positive response was defined as the reproduction of syncope or pre-syncope according to VASIS definition. During the unmedicated phase, syncope occurred in 26 patients (20.3%) and in no members of the control group. After nitroglycerin, 53 patients (41.4%) and 2 control subjects (2%) displayed syncope. The total positive rate of the test was 61.8% with a specificity of 98.0%. In conclusion, HUTT potentiated with sublingual nitroglycerin provides an adequate specificity and total positive rate in old patients with unexplained syncope; therefore it can be proposed as a useful diagnostic tool to detect the vasovagal origin of syncope not only in middle but also in advanced age.


Assuntos
Nitroglicerina , Síncope Vasovagal/diagnóstico , Teste da Mesa Inclinada/normas , Vasodilatadores , Administração Sublingual , Idoso , Idoso de 80 Anos ou mais , Pressão Sanguínea/efeitos dos fármacos , Diabetes Mellitus/diagnóstico , Feminino , Frequência Cardíaca/efeitos dos fármacos , Humanos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
11.
Genes Chromosomes Cancer ; 31(4): 357-61, 2001 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-11433526

RESUMO

Nonrandom, widespread promoter methylation of tumor suppressor genes is a common mechanism of gene inactivation during tumorigenesis. We examined the methylation status of two distinct regions of the MLH1 promoter (proximal and distal to the transcription start site) and the MLH1 gene expression by methylation-specific PCR and immunohistochemistry. A total of 72 colorectal tumors, both with (n = 51, 22 affected by hereditary nonpolyposis colorectal cancer, HNPCC, defined according to the international clinical criteria and 29 sporadic cases) and without microsatellite instability (MSI) (n = 21) were studied. Methylation was present in at least one of the two promoter regions in 86% of the sporadic MSI cases, in 33% of the cases lacking MSI, and in 23% of the HNPCC tumors. In the HNPCC cases with a known MLH1 mutation (n = 10) none of the two promoter regions was methylated. Hypermethylation in both MLH1 promoter regions was seen in 45% of the MSI sporadic cases vs. 5% of the MSI-negative cases and 0% of the HNPCC cases. The overall concordance between the two promoter regions regarding methylation status was good (P = 0.009), but no significant correlation between methylation and suppression of the MLH1 immunohistochemical expression was found. Our data confirm that mutation and hypermethylation are mutually exclusive mechanisms in inducing mismatch repair deficiency and support the hypothesis of methylation as a process evenly distributed along the different regions of the promoter.


Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/genética , Metilação de DNA , Inativação Gênica , Proteínas de Neoplasias/genética , Regiões Promotoras Genéticas/genética , Proteínas Adaptadoras de Transdução de Sinal , Pareamento Incorreto de Bases/genética , Proteínas de Transporte , Reparo do DNA/genética , Feminino , Regulação Neoplásica da Expressão Gênica/genética , Humanos , Masculino , Pessoa de Meia-Idade , Proteína 1 Homóloga a MutL , Proteínas Nucleares
12.
Gut ; 45(1): 32-8, 1999 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-10369701

RESUMO

BACKGROUND: Hereditary non-polyposis colorectal cancer (HNPCC) is one of the most common inherited disorders predisposing to cancer. The genes responsible for the disease have recently been cloned and characterised; their mutations induce a generalised genomic instability which is particularly evident at microsatellite loci (replication error (RER)+ phenotype). AIMS: To investigate how to select individuals and families in the general population who should be screened for constitutional mutations predisposing to colorectal cancer. PATIENTS/METHODS: Between 1984 and 1995, 1899 colorectal malignancies in 1831 patients were registered, and in 1721 of these (94%), family trees could be obtained. Patients and families were classified into five categories according to a more or less likely genetic basis: HNPCC; "suspected" HNPCC; juvenile cases; aspecific cancer aggregation; sporadic cases. In 18 families with HNPCC as well as in 18 with suspected HNPCC, microsatellite instability in tumour tissues and constitutional mutations of two DNA mismatch repair genes (MSH2 and MLH1) could be evaluated. RER status was studied with five markers (BAT40, D2S123, D18S57, D17S787, and BAT26) in paraffin embedded tissues. Germline mutations of MSH2 or MLH1 genes were assessed on DNA and RNA extracted from lymphomonocytic cells, using reverse transcription polymerase chain reaction, single strand conformation polymorphism analysis, and direct DNA sequencing. RESULTS: HNPCC represented 2.6% and suspected HNPCC 4.6% of all registered colorectal neoplasms. Eleven out of 18 HNPCC families (61%) showed microsatellite instability as opposed to four (of 18) suspected HNPCC (22%; p<0.02). Three germline mutations (two in MSH2 and one in MLH1 gene) were found in three different large HNPCC families, whereas no mutations were detected in suspected HNPCC. CONCLUSIONS: In this study of cancer genetic epidemiology, data from a tumour registry were analysed and this ultimately led to the identification and selection of families that should be tested for mutator gene mutations. With the use of a population based approach, the incidence of mutations was appreciably lower than previously reported and limited to families with full blown HNPCC. It is possible that in most families with a clinical spectrum of HNPCC (or suspected HNPCC) other DNA mismatch repair genes are involved in the pathogenesis of the disease.


Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Sistema de Registros , Proteínas Adaptadoras de Transdução de Sinal , Adulto , Proteínas de Transporte , Neoplasias Colorretais Hereditárias sem Polipose/epidemiologia , Neoplasias Colorretais Hereditárias sem Polipose/genética , Reparo do DNA/genética , DNA de Neoplasias/genética , Proteínas de Ligação a DNA/genética , Feminino , Predisposição Genética para Doença , Testes Genéticos/métodos , Mutação em Linhagem Germinativa , Humanos , Itália/epidemiologia , Masculino , Repetições de Microssatélites , Proteína 1 Homóloga a MutL , Proteína 2 Homóloga a MutS , Proteínas de Neoplasias/genética , Proteínas Nucleares , Linhagem , Proteínas Proto-Oncogênicas/genética
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