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Risk-reducing operations are an important part of the management of hereditary predisposition to cancer. In selected cases, they can considerably reduce the morbidity and mortality associated with cancer in this population.The Brazilian Society of Surgical Oncology (BSSO) developed this guideline to establish national benchmarks for cancer risk-reducing operations.The guideline was prepared from May to December 2021 by a multidisciplinary team of experts to discuss the surgical management of cancer predisposition syndromes. Fourteen questions were defined and assigned to expert groups that reviewed the literature and drafted preliminary recommendations. Following a review by the coordinators and a second review by all participants, the groups made final adjustments, classified the level of evidence, and voted on the recommendations.For all questions including risk-reduction bilateral salpingo-oophorectomy, hysterectomy, and mastectomy, major agreement was achieved by the participants, always using accessible alternatives.This and its accompanying article represent the first guideline in cancer risk reduction surgery developed by the BSSO, and it should serve as an important reference for the management of families with cancer predisposition.

Uterine bacterial infections are common during the post-partum period of dairy herds and, apparently, incidences in crossbred cattle are less than in Holsteins. The aims of this study were (I) to evaluate production of interleukin 1-β (IL-1β), interleukin-6 (IL-6) and chemokine CXCL8 using endometrial explants from Bos indicus crossbred heifers at diestrous, stimulated by various pathogen-associated molecular patterns (PAMP), and (II) assess production of these cytokines by lipopolysaccharide-stimulated endometrial explants from heifers when samples were collected at different stages of estrous cycle. In the first experiment, endometrial explants from heifers at diestrous were stimulated by ten-fold serial dilutions of lipopolysaccharide (LPS), triacylated lipopeptide (PAM3) or peptidoglycan (PGN). In the second experiment, endometrial explants collected at different stages of the estrous cycle were treated with LPS. Concentrations of IL-1β, IL-6 and CXCL8 were quantified in supernatant. There was a marked (P 0.05) production of IL-1β, IL-6, and CXCL8 in response to LPS treatment. There was also production of IL-1β (P 0.05) in response to PGN treatment. Explant samples collected at different stages of the estrous cycle responded to LPS treatment with production of IL-1β and IL-6, but with no differences (P 0.05) between stages of estrous cycle. In conclusion, endometrial samples of crossbred Zebu-based heifers collected during diestrous produced IL-1β, IL-6 and CXCL8 in response to LPS and IL-1β in response to PGN. The cytokine production in response to LPS, however, was not affected by the stage of the estrous cycle in Bos indicus crossbred heifers.

Background: Large congenital melanocytic nevus (LCMN) is considered a risk factor for melanoma, although the magnitude of this risk is controversial. Objective: To evaluate the risk of melanoma development in patients with LCMN seen at a dermatology referral center in Brazil during a twelve-year period. To the best of our knowledge, there are no published similar studies on large congenital melanocytic nevus in South America. Methods: Our prospective cohort included only patients with congenital nevi ≥20cm. The cumulative risk of developing melanoma and the standardized morbidity ratio were calculated for patients followed up prospectively for at least 1 month. Results: Sixty-three patients were enrolled in this study. One patient who developed melanoma prior to enrollment was excluded, and five were eliminated because of insufficient follow-up time. Mean follow-up for the remaining 57 patients was 5.5 years (median 5.2 years). Median age of entry into the study was 2.6 years. Most patients (75.4%) underwent only clinical observation. Melanomas occurred in 2 (3.5%) patients. Five-year cumulative risk for melanoma was 4.8% (95% CI: 1.9-11.5%). Standardized morbidity ratio was 1584 (95% CI: 266-5232, p

The detection of germline mutations in BRCA1 and BRCA2 is essential to the formulation of clinical management strategies, and in Brazil, there is limited access to these services, mainly due to the costs/availability of genetic testing. Aiming at the identification of recurrent mutations that could be included in a low-cost mutation panel, used as a first screening approach, we compiled the testing reports of 649 probands with pathogenic/likely pathogenic variants referred to 28 public and private health care centers distributed across 11 Brazilian States. Overall, 126 and 103 distinct mutations were identified in BRCA1 and BRCA2, respectively. Twenty-six novel variants were reported from both genes, and BRCA2 showed higher mutational heterogeneity. Some recurrent mutations were reported exclusively in certain geographic regions, suggesting a founder effect. Our findings confirm that there is significant molecular heterogeneity in these genes among Brazilian carriers, while also suggesting that this heterogeneity precludes the use of screening protocols that include recurrent mutation testing only. This is the first study to show that profiles of recurrent mutations may be unique to different Brazilian regions. These data should be explored in larger regional cohorts to determine if screening with a panel of recurrent mutations would be effective., This work was supported in part by grants from Barretos Cancer Hospital (FINEP - CT-INFRA, 02/2010), Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP, 2013/24633-2 and 2103/23277-8), Fundação de Apoio à Pesquisa do Rio Grande do Norte (FAPERN), Fundação de Amparo à Pesquisa do Estado do Rio de Janeiro (FAPERJ), Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul (FAPERGS), Ministério da Saúde, the Breast Cancer Research Foundation (Avon grant #02-2013-044) and National Institute of Health/National Cancer Institute (grant #RC4 CA153828-01) for the Clinical Cancer Genomics Community Research Network. Support in part was provided by grants from Fundo de Incentivo a Pesquisa e Eventos (FIPE) from Hospital de Clínicas de Porto Alegre, by Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES, BioComputacional 3381/2013, Rede de Pesquisa em Genômica Populacional Humana), Secretaria da Saúde do Estado da Bahia (SESAB), Laboratório de Imunologia e Biologia Molecular (UFBA), INCT pra Controle do Câncer and Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq). RMR and PAP are recipients of CNPq Productivity Grants, and Bárbara Alemar received a grant from the same agency, info:eu-repo/semantics/publishedVersion

Giant congenital melanocytic nevus is usually defined as a melanocytic lesion present at birth that will reach a diameter ≥ 20 cm in adulthood. Its incidence is estimated in

Vaginal pessaries represent a valid therapeutic option for the management of female pelvic organ prolapse in elderly women with significant comorbidities. Although leading to good functional and quality of life outcomes, when neglected, they can cause significant and severe complications.1 An 87-year-old woman semidependent and uncooperative due to progressive Alzheimer’s dementia, who has lived in a nursing home for the last 5 years, presented to our outpatient clinic for ‘intermittent hematuria’. She carried a pelvic ultrasound documenting a ‘polypoid formation with 23 mm on the posterior bladder wall suggesting a bladder tumour’. The blood loss had …

to evaluate the performance of the combined first trimester screening for chromosomal abnormalities in a group of the Brazilian population.a retrospective study including pregnant women with single fetuses referred to a fetal medicine center to perform the first trimester screening that combines maternal age, nuchal translucency measurement and two maternal serum biochemical markers: free B-hCG and PAPP-A. To evaluate the performance of the test, the detection rate, specificity, negative and positive predicted values and false-positive rates were calculated, considering as high risk the cut-off value above 1 in 300.we studied 456 patients submitted to the test. Advanced maternal age above 35 years was observed in 36.2% of cases. The incidence of chromosomal abnormalities in the study population was 2.2%. Twenty-one patients (4.6%) presented a high risk (above 1:300) by the combined test. Using this cut-off level, the detection rate of the test was 70% for all chromosomal abnormalities and 83.3% for trisomy 21, for a false-positive rate of 3.1%.the combined first trimester screening was effective to detect chromosomal abnormalities, mainly for trisomy 21, with low false-positive rates. The combined test contributed to decreasing the indication of an invasive test if we compare to maternal age alone as a risk factor.

BACKGROUND AND PURPOSE: Several morphometric MR imaging studies have investigated age- and sex-related cerebral volume changes in healthy human brains, most often by using samples spanning several decades of life and linear correlation methods. This study aimed to map the normal pattern of regional age-related volumetric reductions specifically in the elderly population. MATERIALS AND METHODS: One hundred thirty-two eligible individuals (67–75 years of age) were selected from a community-based sample recruited for the Sao Paulo Ageing and Health (SPAH) study, and a cross-sectional MR imaging investigation was performed concurrently with the second SPAH wave. We used voxel-based morphometry (VBM) to conduct a voxelwise search for significant linear correlations between gray matter (GM) volumes and age. In addition, region-of-interest masks were used to investigate whether the relationship between regional GM (rGM) volumes and age would be best predicted by a nonlinear model. RESULTS: VBM and region-of-interest analyses revealed selective foci of accelerated rGM loss exclusively in men, involving the temporal neocortex, prefrontal cortex, and medial temporal region. The only structure in which GM volumetric changes were best predicted by a nonlinear model was the left parahippocampal gyrus. CONCLUSIONS: The variable patterns of age-related GM loss across separate neocortical and temporolimbic regions highlight the complexity of degenerative processes that affect the healthy human brain across the life span. The detection of age-related limbic GM decrease in men supports the view that atrophy in such regions should be seen as compatible with normal aging.

PURPOSE: To report the initial experience in our country with a new technique for twin to twin transfusion syndrome (TTTS) treatment, using laser to coagulate the placental vessels responsible for the twin transfusion during gestation. METHODS: Prospective study of eight cases diagnosed with TTTS evaluated in our service from january 2001 to june 2005. Through percutaneous introduction of a 2,0mm diameter fetoscope in the uterine cavity, placental surface vessels where directly visualized. Those identified as responsible for the transfusion were laser coagulated. The procedure combines ultrasonography and fetoscopy, in a so-called sonoendoscopic technique (FETENDO). RESULTS: Among the eight pregnancies evaluated, five cases were submitted to the procedure (10 fetuses). All fetuses survived for at least five weeks after surgery. A total of eight fetuses were born alive and five survived the neonatal period. In a 18 months follow-up after birth, all five are still alive and well and their mean age is now 10,6 months. The total survival rate was 50% and in three pregnancies, at least one fetus survived. CONCLUSIONS: Laser fetoscopy is actually the "gold-standard" treatment of TTTS. Nevertheless is a sophisticated technique that epends of proper training. Our service is the first in our country to offer this therapeutic technique. Our success rate is comparable with the international literature. OBJETIVO: Nosso objetivo é relatar a experiência inicial no país com uma nova técnica de tratamento para a síndrome de transfusão feto-fetal (STT), onde se utiliza o raio laser para coagulação dos vasos placentários responsáveis pela transfusão entre gêmeos durante a gravidez. MÉTODOS: Estudo prospectivo de 8 casos com diagnóstico de STT avaliados pelo nosso serviço de janeiro de 2001 a junho de 2005. Introduzindo-se um fetoscópio de 2,0 mm de diâmetro na cavidade uterina, por via percutânea, foram diretamente visualizados os vasos da superfície placentária. Aqueles vasos identificados como responsáveis pela transfusão foram coagulados através do laser. O procedimento combina a ultra-sonografia e a fetoscopia, no que se denomina uma abordagem sono-endoscópica (FETENDO). RESULTADOS: Dentre as oito gestações avaliadas, o procedimento foi realizado em cinco casos (10 fetos). Todos os fetos sobreviveram por um período mínimo de cinco semanas após a cirurgia. Na evolução, oito fetos nasceram vivos e cinco sobreviveram ao período neonatal. No seguimento pós-natal de 18 meses, todos os cinco estão vivos e bem, tendo atualmente uma idade média de 10,6 meses. A sobrevida geral foi de 50%, sendo que em três gestações, pelo menos um feto sobreviveu. CONCLUSÕES: A fetoscopia com laser é atualmente considerada "gold-standard" no tratamento da STT. No entanto, a técnica é sofisticada e depende de treinamento adequado. Nosso serviço é o primeiro do país a oferecer esta técnica cirúrgica e nossos índices de sucesso se comparam aos índices mundiais.

This study was designed to establish a prognostic score for gastric cancer that takes into account factors related to the tumor, the patient, and the treatment. Two hundred thirty patients with gastric adenocarcinoma admitted t o the Department of Abdominal Surgery at Hospital do Câncer A. C. Camargo (Sao Paulo) and treated by gastrectomy from January 1992 until December 1996 were included in this retrospective cohort. The prognostic score was created according to the variables identified in the multivariate analysis and by using the regression coefficients generated by the Cox regression. The 5-year overall survival rate was 44.5%. The final multivariate model identified six variables with a significant and independent effect on survival: sex, weight loss, lymphocyte count, tumor-node-metastasis staging, lymphadenectomy, and lymph node ratio. Patients were divided into four groups according to their scores, as follows: group 1, 0 to 3.0; group 2, 3.5 to 5.5; group 3, 6.0 to 8.5; and group 4, 9.0 to 14.0. The 5-year survival rates were 91.5%, 49.3%, 20.3%, and .0% for the score groups 1, 2, 3, and 4, respectively (P < .001). The score was superior in the assessment of prognosis when compared with tumor-node-metastasis staging alone. It is possible to create a prognostic score that simultaneously includes factors related to the tumor, patient, and treatment, thus generating a more effective system in predicting the prognosis than the morphology-based staging systems.

A doença celíaca (DC, enteropatia sensível ao glúten) é desordem caracterizada por mal absorção causada por reação alérgica ao glúten, proteína presente em diversos cereais. As manifestações iniciais ocorrem nas primeiras quatro décadas de vida, sendo cerca de duas vezes mais freqüente no sexo feminino. DC pode estar associada a largo espectro de manifestações neurológicas incluindo ataxia cerebelar, epilepsia, demência, neuropatia, miopatia e leucoencefalopatia multifocal. Relatamos três casos de pacientes com manifestações neurológicas da DC: um com ataxia cerebelar, outro com epilepsia e o último com déficit cognitivo. O diagnóstico de DC foi estabelecido com base em testes sorológicos (anticorpos antiendomísio e antigliadina) e biópsia intestinal. Em dois pacientes as alterações neurológicas precederam as gastrointestinais. Em todos os casos a dieta livre de glúten não influenciou o quadro neurológico. Concluímos que o diagnóstico de DC deve ser considerado em pacientes com alterações neurológicas de etiologia indeterminada, incluindo ataxia, epilepsia e demência. Uma dieta sem glúten, a base do tratamento das manifestações gastrointestinais, não foi eficiente em melhorar os sintomas neurológicos em nossos pacientes. Celiac disease (CD/ Nontropicalsprue, gluten-sensitive enteropathy) is a malabsortive condition in which an allergic reaction to the cereal grain-protein gluten (present in wheat, rye and barley) causes small intestine mucosal injury. The onset is in the first four decades of life, with a female to male ratio of 2:1. It may be associated with a wide spectrum of neurological manifestations including cerebellar ataxia, epileptic seizures, dementia, neuropathy, myopathy and multifocal leucoencephalopathy. We report three patients with neurological manifestations related with CD: one with cerebellar ataxia, one with epilepsy and one with cognitive impairment. The diagnosis of CD was confirmed by serologic tests (antiendomysial and antigliadin antibodies) and biopsy of the small intestine. In two patients the neurological symptoms preceded the gastrointestinal abnormalities and in all of them gluten restriction failed to improve the neurological disability. Conclusion: CD should be ruled out in the differential diagnosis of neurological dysfunction of unknown cause, including ataxia, epilepsy and dementia. A gluten free diet, the mainstay of treatment, failed to improve the neurological disability. Federal University of Ceará Department of Internal Medicine Federal University of Ceará Hospital Universitário Walter Universidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina UNIFESP, EPM SciELO

Various functional magnetic resonance imaging studies addressed the effects of antidepressant drugs on brain functioning in healthy subjects; however, none specifically investigated positive mood changes to antidepressant drug. Sixteen subjects with no personal or family history of psychiatric disorders were selected from an ongoing 4-week open trial of small doses of clomipramine. Follow-up interviews documented clear positive treatment effects in six subjects, with reduced irritability and tension in social interactions, improved decision making, higher self-confidence and brighter mood. These subjects were then included in a placebo-controlled confirmatory trial and were scanned immediately after 4 weeks of clomipramine use and again 4 weeks after the last dose of clomipramine. The functional magnetic resonance imaging (fMRI) scans were run during emotion-eliciting stimuli. Repeated-measures analysis of variance of brain activity patterns showed significant interactions between group and treatment status during induced irritability (P

p. 1-12 Submitted by Edileide Reis (leyde-landy@hotmail.com) on 2014-05-06T17:48:33Z No. of bitstreams: 1 José Geraldo Bomfim Lima.pdf: 951776 bytes, checksum: 5eb8ffba084287284d06b02e0e0a5ba0 (MD5) Approved for entry into archive by Flávia Ferreira (flaviaccf@yahoo.com.br) on 2015-10-27T14:55:15Z (GMT) No. of bitstreams: 1 José Geraldo Bomfim Lima.pdf: 951776 bytes, checksum: 5eb8ffba084287284d06b02e0e0a5ba0 (MD5) Made available in DSpace on 2015-10-27T14:55:15Z (GMT). No. of bitstreams: 1 José Geraldo Bomfim Lima.pdf: 951776 bytes, checksum: 5eb8ffba084287284d06b02e0e0a5ba0 (MD5) Previous issue date: 2012 Background: Leishmaniasis is a neglected endemic disease with a broad spectrum of clinical manifestations. Pentavalent antimonials have been the treatment of choice for the past 70 years and, due to the emergence of resistant cases, the efficacy of these drugs has come under scrutiny. Second-line drugs are less efficacious, cause a range of side effects and can be costly. The formulation of new generations of drugs, especially in developing countries, has become mandatory. Methodology/Principal Findings: We investigated the anti-leishmanial effect of 17-(allylamino)-17-demethoxygeldanamycin (17-AAG), an HSP90 inhibitor, in vitro. This inhibitor is currently in clinical trials for cancer treatment; however, its effects against intracellular Leishmania remain untested. Macrophages infected with L. amazonensis were treated with 17-AAG (25–500 nM) and parasite load was quantified using optical microscopy. Parasite load declined in 17-AAG-treated macrophages in a dose- and time-dependent manner. Intracellular parasite death became irreversible after 4 h of treatment with 17-AAG, and occurred independent of nitric oxide (NO) and superoxide (O2−) production. Additionally, intracellular parasite viability was severely reduced after 48 h of treatment. Interestingly, treatment with 17-AAG reduced pro-inflammatory mediator production, including TNF-α, IL-6 and MCP-1, yet IL-12 remained unaffected. Electron microscopy revealed morphological alterations, such as double-membrane vacuoles and myelin figures at 24 and 48 h after 17-AAG treatment. Conclusions/Significance: The HSP90 inhibitor, 17-AAG, possesses high potency under low dosage and reduces both pro-inflammatory and oxidative molecule production. Therefore, further studies are warranted to investigate this inhibitor’s potential in the development of new generations of anti-leishmanials.