Desafios do rastreamento do câncer de mama / Challenges of breast cancer screening

A mamografia é o método de eleição para o rastreamento do câncer de mama, sendo o único que demonstra redução de mortalidade na população de risco habitual. A periodicidade de realização e a idade de início do rastreamento mamográfico são um tema controverso na literatura. Entretanto, dados no nosso país apontam para uma porção significativa de neoplasia de mamas em mulheres abaixo dos 50 anos. A Federação Brasileira das Associações de Ginecologia e Obstetrícia (Febrasgo), a Sociedade Brasileira de Mastologia (SBM) e o Colégio Brasileiro de Radiologia e Diagnóstico por Imagem (CBR) concordam que o rastreamento mamográfico deveria ser realizado, anualmente, por todas as mulheres a partir de 40 anos de idade. No Brasil, há uma distribuição desigual de mamógrafos nas várias regiões. As políticas de rastreamento devem considerar essa desigualdade. A grande maioria dos serviços no Brasil realiza rastreamento oportunístico para o câncer de mama. A implantação de rastreamento organizado por faixa etária e estratificação de risco pode otimizar os custos do sistema público de saúde. Pacientes de alto risco precisam ser rastreadas de forma diferente das pacientes de risco habitual. Essas pacientes precisam ter acesso à ressonância magnética das mamas e também iniciar seu rastreamento em idade mais precoce. O protocolo abreviado da ressonância magnética para rastreamento de pacientes de alto risco para câncer de mama pode melhorar a adesão e o acesso dessas pacientes ao programa de rastreamento. A ultrassonografia das mamas não é método de rastreamento isoladamente. Entretanto, ela tem seu papel como método complementar à mamografia e à ressonância magnética em cenários específicos, bem como em substituição à ressonância magnética em pacientes com contraindicação ao uso desse método. As mamas densas possuem baixa sensibilidade para o rastreamento por mamografia

Pseudoaneurysm of radial artery after coronary angiography.

Iatrogenic pseudoaneurysms (IPA) are a rare complication of transradial coronary intervention. This brief report aims to present a case report of a radial artery pseudoaneurysm and to review the current management of this entity. Because of the increased performance of transradial coronary intervention, IPA have become more common. Doppler ultrasonography is a fundamental tool to aid the differential diagnosis with other pathologies. There is no consensus on the treatment, which may range from conservative management to surgical repair. Close surveillance after the procedure and early diagnosis are essential to avoid serious complications, such as ischemia of the hand. The management of IPA depends upon morphological characteristics and associated symptoms.

Management of median arcuate ligament syndrome: a case-based review.

Dunbar syndrome or median arcuate ligament syndrome is a rare pathology that has a great impact on the quality of life of patients. This brief report aims to present a case report of a successful treatment of Dunbar syndrome and to review the current management of this entity. We present the case of a 37 year-old patient, who was treated by median arcuate ligament laparoscopic resection. The median arcuate ligament syndrome is associated with significant morbidity. There are no diagnostic criteria established so alternative causes of abdominal pain must be excluded. Celiac artery decompression by laparoscopic approach is currently the preferred treatment. Early diagnosis and treatment of this pathology allow a significant improvement in the quality of life of patients.

Paradoxical embolism: a rare cause of acute upper limb ischemia.

Paradoxical embolism is a rare cause of arterial embolism, even more those resulting in acute ischemia of the upper limb. A case of a 45-year-old patient with acute paradoxical upper limb embolization and acute limb ischemia is presented. A review of the most recent evidence on the diagnosis and management of paradoxical embolism were explored. The cardiac defect most associated with paradoxical embolism is a patent foramen oval. The diagnosis can be performed by transthoracic or transesophageal echocardiography. Closure of the foramen oval is a safe and effective procedure; however, there is no clear consensus on when it should be performed, so the strategy should be individualized. A high level of suspicion of paradoxical embolism should exist in the presence of simultaneous venous and arterial embolism. The investigation of the embolic source is fundamental to avoid the recurrence of events.

Diagnóstico de precisão das lesões mamárias / Accurate diagnosis of breast lesions

PONTOS-CHAVE As lesões mamárias compreendem uma ampla variedade de diagnósticos que apresentam comportamentos diversos. As lesões mamárias podem ser classificadas como lesões benignas, de potencial de malignidade indeterminado (B3), carcinoma in situ e carcinoma invasor. Na era da medicina personalizada, individualizar e obter um diagnóstico preciso faz grande diferença no desfecho final da paciente, principalmente no caso do câncer de mama. Exames de imagem direcionados e de qualidade, métodos de biópsia adequadamente selecionados e análises de anatomopatologia convencional, imuno-histoquímica e até molecular são determinantes no diagnóstico e no manejo das pacientes.

Genetic and Genomic Characterization of a New Beef Cattle Composite Breed (Purunã) Developed for Production in Pasture-Based Systems.

Purunã is a composite beef cattle breed, developed in Southern Brazil by crossing the Angus, Charolais, Canchim, and Caracu breeds. The goal of this study was to perform the first genetic characterization of the Purunã breed, based on both pedigree and genomic information. For this, 100 randomly selected animals were genotyped, and 11,205 animals born from 1997 to 2019 had pedigree information. The genetic analyses performed were principal component analysis, admixture, phylogenic tree, pedigree and genomic inbreeding, linkage disequilibrium (LD), effective population size (Ne), consistency of the gametic phase, runs of homozygosity (ROH), heterozygosity-enriched regions (HERs), and functional analyses of the ROH and HER regions identified. Our findings indicate that Purunã is more genetically related to the Charolais, Canchim, and Angus breeds than Caracu or Nellore. The levels of inbreeding were shown to be small based on all the metrics evaluated and ranged from -0.009 to 0.029. A low (-0.12-0.31) correlation of the pedigree-based inbreeding compared to all the genomic inbreeding coefficients evaluated was observed. The LD average was 0.031 (±0.0517), and the consistency of the gametic phase was shown to be low for all the breed pairs, ranging from 0.42 to 0.27 to the distance of 20 Mb. The Ne values based on pedigree and genomic information were 158 and 115, respectively. A total of 1,839 ROHs were found, and the majority of them are of small length (<4 Mb). An important homozygous region was identified on BTA5 with pathways related to behavioral traits (sensory perception, detection of stimulus, and others), as well as candidate genes related to heat tolerance (MY O 1A), feed conversion rate (RDH5), and reproduction (AMDHD1). A total of 1,799 HERs were identified in the Purunã breed with 92.3% of them classified within the 0.5-1 Mb length group, and 19 HER islands were identified in the autosomal genome. These HER islands harbor genes involved in growth pathways, carcass weight (SDCBP), meat and carcass quality (MT2A), and marbling deposition (CISH). Despite the genetic relationship between Purunã and the founder breeds, a multi-breed genomic evaluation is likely not feasible due to their population structure and low consistency of the gametic phase among them.

Characterization of runs of homozygosity, heterozygosity-enriched regions, and population structure in cattle populations selected for different breeding goals.

BACKGROUND: A decline in the level of genetic diversity in livestock can result in reduced response to selection, greater incidence of genetic defects, and inbreeding depression. In this context, various metrics have been proposed to assess the level of genetic diversity in selected populations. Therefore, the main goals of this study were to: 1) investigate the population structure of 16 cattle populations from 15 different pure breeds or composite populations, which have been selected for different breeds goals; and, 2) identify and compare runs of homozygosity (ROH) and heterozygosity-enriched regions (HER) based on different single nucleotide polymorphism (SNP) panels and whole-genome sequence data (WGS), followed by functional genomic analyses. RESULTS: A total of 24,187 ROH were found across all cattle populations, with 55% classified in the 2-4 Mb size group. Fourteen homozygosity islands were found in five populations, where four ROH islands located on BTA1, BTA5, BTA16, and BTA19 overlapped between the Brahman (BRM) and Gyr (GIR) breeds. A functional analysis of the genes found in these islands revealed candidate genes known to play a role in the melanogenesis, prolactin signaling, and calcium signaling pathways. The correlations between inbreeding metrics ranged from 0.02 to 0.95, where the methods based on homozygous genotypes (FHOM), uniting of gametes (FUNI), and genotype additive variance (FGRM) showed strong correlations among them. All methods yielded low to moderate correlations with the inbreeding coefficients based on runs of homozygosity (FROH). For the HER, 3576 runs and 26 islands, distributed across all autosomal chromosomes, were found in regions containing genes mainly related to the immune system, indicating potential balancing selection. Although the analyses with WGS did not enable detection of the same island patterns, it unraveled novel regions not captured when using SNP panel data. CONCLUSIONS: The cattle populations that showed the largest amount of ROH and HER were Senepol (SEN) and Montana (MON), respectively. Overlapping ROH islands were identified between GIR and BRM breeds, indicating a possible historical connection between the populations. The distribution and pattern of ROH and HER are population specific, indicating that different breeds have experienced divergent selection processes or different genetic processes.

Pantaloon Vein Grafts - An Alternative Fix for an Old Problem.

BACKGROUND: Pantaloon vein grafts (PVG) were first used to replace infrarenal aortic grafts. However, they may have other applications, such as femoral aortic bifurcation reconstruction. METHODS: We herein present 2 different cases, the first with a prosthetic graft infection at the recipient femoral bifurcation, the second for a late occlusion of the femoral bifurcation following endarterectomy and prosthetic patch closure, who were treated with PVG fashioned from the ipsilateral great saphenous vein. CONCLUSION: The use of PVG to reconstruct the femoral bifurcation allowed for concurrent axial and profunda femoris artery revascularization, while correcting diameter mismatch with the inflow source and seem particularly suitable for infected operative fields.

Genotype by environment interaction for fat and protein yields via reaction norms in Holstein cattle of southern Brazil.

Our objective was to evaluate the genetic merit of Holstein cattle population in southern Brazil in response to variations in the regional temperature by analyzing the genotype by environment interaction using reaction norms. Fat yield (FY) and protein yield (PY) data of 67 360 primiparous cows were obtained from the database of the Paraná Holstein Breeders Association, Brazil (APCBRH). The regional average annual temperature was used as the environmental variable. A random regression model was adopted applying mixed models with Restricted Maximum Likelihood (REML) algorithm using WOMBAT software. The genetic merit of the 15 most representative bulls, depending on the temperature gradient, was evaluated. Heritability ranged from 0.21 to 0.27 for FY and from 0.14 to 0.20 for PY. The genetic correlation observed among the environmental gradients proved to be higher than 0.80 for both traits. Slight reranking of bulls for both traits was detected, demonstrating that non-relevant genotype by environment interaction for FY and PY were observed. Consequently, no inclusion of the temperature effect in the model of genetic evaluation in southern Brazilian Holstein breed is required.

Genotype by environment interaction for somatic cell score in Holstein cattle of southern Brazil via reaction norms.

OBJECTIVE: The objective of this study was to evaluate the genetic behavior of a population of Holstein cattle in response to the variation of environmental temperature by analyzing the effects of genotype by environment interaction (GEI) through reaction norms for the somatic cell score (SCS). METHODS: Data was collected for 67,206 primiparous cows from the database of the Paraná Holstein Breeders Association in Brazil, with the aim of evaluating the temperature effect, considered as an environmental variable, distinguished under six gradients, with the variation range found being 17°C to 19.5°C, over the region. A reaction norm model was adopted utilizing the fourth order under the Legendre polynomials, using the mixed models of analysis by the restricted maximum likelihood method by the WOMBAT software. Additionally, the genetic behavior of the 15 most representative bulls was assessed, in response to the changes in the temperature gradient. RESULTS: A mean score of 2.66 and a heritability variation from 0.17 to 0.23 was found in the regional temperature increase. The correlation between the environmental gradients proved to be higher than 0.80. Distinctive genetic behaviors were observed according to the increase in regional temperature, with an observed increase of up to 0.258 in the breeding values of some animals, as well as a reduction in the breeding of up to 0.793, with occasional reclassifications being observed as the temperature increased. CONCLUSION: Non-relevant GEI for SCS were observed in Holstein cattle herds of southern Brazil. Thus, the inclusion of the temperature effect in the model of genetic evaluation of SCS for the southern Brazilian Holstein breed is not required.

Ansiedade entre crianças e seus responsáveis perante o atendimento odontológico / Anxiety among children and their companions and relatives in dental treatment

O objetivo da pesquisa foi comparar escores de ansiedade perante o tratamento odontológico entre crianças e acompanhantes. Amostra de 44 crianças atendidas na clínica de Odontopediatria da Faculdade São Leopoldo Mandic, de ambos os sexos, idades de 4 a 11 anos. Utilizou-se a Escala de Ansiedade Visual (FIS) para crianças, identificando a ansiedade inicial e final por meio de 5 carinhas variando de muito feliz a muito triste, avaliada na primeira e na última consulta, e o questionário com a Escala de Ansiedade Dental de Corah's (DAS) para os responsáveis composto por 4 questões fechadas. Realizou-se análise descritiva por meio de tabelas de distribuição de frequências, cálculos da média, desvio padrão, mediana, valor mínimo e máximo, análise de correlação de Sperman entre escores total e de cada questão da escala de ansiedade (DAS) dos pais e o FIS dos pacientes. A comparação entre escores do FIS dos pacientes na primeira e última consulta foi realizada pelo teste de Wilcoxon, considerando-se o nível de significância de 5%. Foram classificados como não ansiosos 4,5% dos pais e 31,8% com exacerbado grau de ansiedade. Não houve correlação significativa (p>0,05) no estado de ansiedade das crianças e ansiedade de seus pais. Houve diminuição significante (p<0,05) no escore médio do FIS referente à ansiedade da criança na última consulta. Conclui-se que a ansiedade dos pais não interferiu no comportamento da criança no tratamento odontológico, e que uma boa comunicação e a proximidade entre dentista e paciente são importantes para diminuir o grau de ansiedade durante o tratamento.

The aim of this research was to compare grades of anxiety in front of dental treatment among children and companion relatives. Sample of 44 children attended on the Pediatric Dentistry Clinic of Faculty São Leopoldo Mandic, both genders with age among 4 and 11 years old. During this data collection we have been applied the Facial Image Scale (FIS) for children in order to identify the inicial ansiety of child, by application of 5 little faces with variation from very sad until very happy. This collection was applied on the first and the last dental care for the child. Regarding the relatives and responsible we have been applied a questionary with Dental Anxiety Scale of Corah´s (DAS) including 4 closed questions. Conducted a descriptive analysis by application of Frequency Distribution Tables, mean calculation, standard deviation, median, minimum and maximum value, Spearman correlation analysis between total scores and each answer of the Dental anxiety scale (DAS ) of the companions and the children's FIS. The relation betwen patient's first and last FIS score was performed by the Wilcoxon test, with significance level of 5%. Classified as not anxious 4.5% of parents and 31.8% with excessive degree of anxiety. There was no significant correlation (p> 0.05) in the children's state of anxiety and anxiety of their companions. There was a significant decrease (p <0.05) in the average FIES regarding the child anxiety in the last visit. The anxiety of the parents did not influence the behavior of the child in the dental treatment, and good communication and proximity between dentist and patient is important to reduce the level of anxiety during treatment.

Câncer de mama no homem / Breast cancer in men

O câncer de mama em homens é uma patologia relativamente incomum. Atinge um homem para cada mil mulheres. Representa menos de 1% de todos os cânceres em homens e é responsável por 0,1% da mortalidade de câncer no sexo masculino. Apesar de ser incomum, alguns estudos vêm demonstrando um aumento na incidência destes tumores. Os fatores de risco incluem hiperestrogenismo, idade, ascendência judaica, história familiar e Síndrome de Klinefelter. Os dados sobre patologia mostram que 90% dos tumores são ductais invasivos, 80% apresentam receptores de estrógeno e 80 a 90% receptores de progesterona positivos. O tratamento é extrapolado dos estudos sobre câncer de mama feminina: cirurgia, hormonioterapia, quimioterapia e radioterapia, que são usados seguindo os guidelines femininos.

Breast cancer in men is a relatively an uncommon disease. Reaches one man for every thousand women. Represents less than 1% of all cancers in men and is responsible for 0.1% of cancer mortality in males. Although it is uncommon, some studies have demonstrated an incidence increase of these tumors. Risk factors include hyperestrogenism, age, Jewish ancestry, family history and Klinefelter Syndrome. The data on pathology showed that 90% of tumors are invasive ductal, 80% have estrogen receptors and 80 to 90% progesterone receptor positive. The treatment is extrapolated from female breast cancer studies: surgery, hormone therapy, chemotherapy and radiotherapy, wich are used following the guidelines female.

Câncer de mama em homens / Breast cancer in men

O câncer de mama em homens é uma doença pouco conhecida. Sua abordagem em ensaios clínicos e publicações é pouco frequente. Foi realizada uma revisão da literatura, priorizando a epidemiologia, os fatores de risco, a patologia e os marcadores tumorais da doença. Corresponde a 1% de todas as neoplasias da mama. Os fatores de risco incluem hiperestrogenismo, idade, ascendência judaica, história familiar e síndrome de Klinefelter. Cerca de 90% dos tumores são ductais invasivos. De 80 a 90% dos casos apresentam receptores de estrógeno e progesterona positivos. O tratamento é semelhante ao do câncer de mama na mulher: cirurgia, hormonioterapia, quimioterapia e radioterapia são usadas, seguindo os guidelines femininos. Os fatores prognósticos incluem tamanho tumoral, grau histológico e comprometimento linfonodal. O câncer de mama é similar em homens e mulheres; todavia, os casos masculinos apresentam particularidades imuno-histoquímicas, mas não existem estudos suficientes para avaliar o impacto dessa característica no prognóstico e tratamento dessa neoplasia.

Breast cancer in men is a little known disease. His approach in clinical trials and publications is uncommon. A literature review was conducted, focusing on the epidemiology, risk factors, pathology and tumor markers of this disease. Corresponds to 1% of all breast cancers. Risk factors include hiperestrogenism, age, Jewish ancestry, family history and Klinefelter syndrome. About 90% of tumors are invasive ductal. Exhibit estrogen and progesterone receptor positive in 80 to 90% of cases. Treatment is similar to breast cancer in women: surgery, hormone therapy, chemotherapy and radiotherapy are used, following the women?s guidelines. Prognostic factors include tumor size, histological grade and lymph node involvement. Breast cancer is similar in men and women; however, male cases had immunohistochemical features, but there aren?t sufficient data to evaluate the impact of this feature on the prognosis and treatment of this malignancy studies.