Assessment of muscle mass using chest computed tomography-based quantitative and qualitative measurements in patients with systemic sclerosis: A retrospective study with cross-sectional and longitudinal analyses.

BACKGROUND/ PURPOSE: Sarcopenia has been increasingly studied in systemic sclerosis (SSc), which is one of the most lethal autoimmune diseases, mainly due to lung involvement. Our objective was to study the associations of myopenia and/or myosteatosis with clinical features of SSc and subsequent adverse outcomes. METHODS: This is a retrospective study with cross-sectional and longitudinal analyses, in which patients with SSc were consecutively included in the outpatient clinic of a tertiary university hospital between 2012 and 2021. Clinical and laboratory parameters of patients with SSc were collected from their medical records. Skeletal muscle mass was assessed on chest computed tomography (CT) at the level of the first lumbar vertebra (L1) by skeletal muscle area (SMA), skeletal muscle index ([SMI] SMA/height2), and skeletal muscle radiation attenuation (SMRA). Cut-off values for myopenia in women and men were SMA <70.1 cm² and <110.4 cm², and SMI <25.9 cm²/m² and <34.6 cm²/m², respectively; values for myosteatosis in women and men were SMRA <29.8 HU and <36.3 HU, respectively. In a subgroup of 31 patients followed-up between 2017 and 2019, the diagnostic properties of SMA, SMI, and SMRA by CT were compared with the appendicular skeletal muscle mass index (ASMI) by dual-energy X-ray absorptiometry (DXA). Low muscle quantity was defined according to the European Working Group on Sarcopenia in Older People 2: ASMI <5.5 kg/m2 in women and <7.0 kg/m2 in men. Afterwards, a better tomographic index was used for correlating with clinical and laboratory parameters. RESULTS: Myopenia and/or myosteatosis were present in 75.7 % of patients with SSc. The prevalence rates according to each index were SMA 25.2%, SMI 12.1%, and SMRA 69.2%. In 73% of the patients with overweight/obesity (body mass index [BMI] ≥25 kg/m²), only SMRA was reduced. Considering ASMI as the gold standard, the sensitivity, specificity, positive and negative predictive values for SMA were 60%, 96.2%, 75% and 92.6%, respectively; for SMI, they were 40%, 96.2%, 66.7%, and 89.3%, respectively; for SMRA, these values were 60%, 34.6%, 15%, and 81.8%. Pearson's correlation coefficients were 0.73, 0.74, and 0.10 for SMA, SMI, and SMRA, respectively, and ASMI significantly agreed with SMA (kappa 0.611, p < 0.001) and SMI (kappa 0.431, p = 0.012). After adjustments in a multivariate model, BMI (p < 0.001) and female sex (p < 0.001) remained significantly associated with myopenia by SMA; BMI (p =0.010) remained significantly associated with low muscle mass by ASMI. CONCLUSION: The SMA index at L1 level on chest CT was demonstrated to be an accurate measure that is useful for detecting myopenia in patients with SSc. BMI and male sex predicted low SMA and BMI was associated with low ASMI on DXA. STATEMENT OF CLINICAL SIGNIFICANCE: In recent years, great advances have been made in sarcopenia-related research, resulting in broader knowledge on its definition, causes, diagnosis, and treatment options. Regarding the techniques used for assessing muscle composition, computed tomography (CT) was demonstrated by many studies to be an efficient and easy-to-use method that can be employed by professionals of different specialties, including rheumatologists. This study was able to demonstrate that although the L3 image was not present on CT, the analysis of SMA at the L1 level on chest CT proved to be an accurate and useful measure to detect myopenia in patients with SSc. This study identified some associated factors of myopenia and/or myosteatosis according to each method employed for assessing muscle composition. Reduced BMI and male sex were associated factors of myopenia when using SMA, and reduced BMI was associated with myopenia when employing ASMI by DXA. Finally, we highlight the need not to generalize the term "sarcopenia" in clinical studies assessing imaging parameters of body composition. The use of the terms myopenia and/or myosteatosis would be more adequate, because CT allows the assessment of muscle composition and not strength or physical performance.

Absence of Nocturnal Fall in Blood Pressure Detected by Ambulatory Blood Pressure Monitoring in Acute Chagas Disease Patients with Oral Infection. / Ausência de Descenso da Pressão Arterial Detectada pela Monitorização Ambulatorial da Pressão Arterial em Pacientes com Doença de Chagas Aguda Transmitida por Via Oral.

Background The involvement of the autonomic nervous system is one of the mechanisms proposed to explain the progression of myocardial lesion in Chagas disease. Evidences have shown changes in sympathetic and parasympathetic nervous system since the acute phase of the disease, and studies to clarify the pathophysiological and prognostic value of these changes are needed. Objetives To assess blood pressure profile by ambulatory blood pressure monitoring (ABPM) in normotensive patients with acute Chagas disease (ACD) without apparent cardiac damage, and the influence of the infection on nocturnal blood pressure fall. Methods ABPM was performed with 54 patients with ACD and a control group composed of 54 age- and sex-matched normotensive individuals. The alpha level of significance (type I error rate) was set at 5%. Results In the total of 54 patients, 74.0% did not show nocturnal fall in systolic blood pressure, 53.7% did not show nocturnal fall in diastolic blood pressure, and lack of both nocturnal fall in SBP and DBP was observed in 51.8% (*p<0.05). In 12.9% of patients, there was an increase in SBP and in 18.5% increase in DBP (p<0.05). Conclusions In patients with acute Chagas disease, a significant absence of the physiological fall in both systolic and diastolic blood pressure was observed during sleep, and some of the patients showed nocturnal increase in these parameters. These findings suggest autonomic changes in the acute phase of Chagas disease. (Arq Bras Cardiol. 2020; 114(4):711-715).

Ausência de Descenso da Pressão Arterial Detectada pela Monitorização Ambulatorial da Pressão Arterial em Pacientes com Doença de Chagas Aguda Transmitida por Via Oral / Absence of Nocturnal Fall in Blood Pressure Detected by Ambulatory Blood Pressure Monitoring in Acute Chagas Disease Patients with Oral Infection

Resumo Fundamento O acometimento do sistema nervoso autônomo é um dos mecanismos propostos para explicar a progressão da lesão miocárdica na doença de Chagas. Evidências indicam alterações do sistema nervoso simpático e parassimpático desde a fase aguda, e estudos são necessários para se entender os aspectos fisiopatológicos e o valor prognóstico dessas alterações. Objetivo Analisar o comportamento da pressão arterial pela monitorização ambulatorial da pressão arterial (MAPA) em pacientes normotensos com doença de Chagas aguda (DCA) sem envolvimento cardíaco aparente, e a influência da infecção no descenso fisiológico do sono. Métodos Foi realizado a MAPA em 54 pacientes com DCA e utilizado um grupo controle de 54 indivíduos normotensos, pareados para idade e sexo. O nível de significância adotado foi para um erro tipo I (alfa) de 5%. Resultados Em um total de 54 pacientes com DCA ocorreu ausência de descenso sistólico do sono em 74,0%*, ausência de descenso diastólico do sono em 53,7%*, e ausência de descenso sistólico e diastólico do sono (51,8%)*, (*p<0,05). Em 12,9% ocorreu ascensão sistólica da pressão no sono e em 18,5% ascensão diastólica (p<0,05). Conclusão Em pacientes com Doença de Chagas aguda, houve ausência significativa do descenso fisiológico da pressão arterial durante o sono, tanto da pressão arterial sistólica quanto a diastólica, e alguns pacientes apresentaram ascensão noturna desses parâmetros. Esses achados sugerem alterações autonômicas na doença de Chagas desde a fase aguda. (Arq Bras Cardiol. 2020; 114(4):711-715)

Abstract Background The involvement of the autonomic nervous system is one of the mechanisms proposed to explain the progression of myocardial lesion in Chagas disease. Evidences have shown changes in sympathetic and parasympathetic nervous system since the acute phase of the disease, and studies to clarify the pathophysiological and prognostic value of these changes are needed. Objetives To assess blood pressure profile by ambulatory blood pressure monitoring (ABPM) in normotensive patients with acute Chagas disease (ACD) without apparent cardiac damage, and the influence of the infection on nocturnal blood pressure fall. Methods ABPM was performed with 54 patients with ACD and a control group composed of 54 age- and sex-matched normotensive individuals. The alpha level of significance (type I error rate) was set at 5%. Results In the total of 54 patients, 74.0% did not show nocturnal fall in systolic blood pressure, 53.7% did not show nocturnal fall in diastolic blood pressure, and lack of both nocturnal fall in SBP and DBP was observed in 51.8% (*p<0.05). In 12.9% of patients, there was an increase in SBP and in 18.5% increase in DBP (p<0.05). Conclusions In patients with acute Chagas disease, a significant absence of the physiological fall in both systolic and diastolic blood pressure was observed during sleep, and some of the patients showed nocturnal increase in these parameters. These findings suggest autonomic changes in the acute phase of Chagas disease. (Arq Bras Cardiol. 2020; 114(4):711-715)

Validation of a tool to evaluate women's satisfaction with breastfeeding for the Brazilian population / Validação de instrumento para avaliação da satisfação da mulher com a amamentaçãopara a população brasileira

Abstract Objective To perform the construct validity and the internal consistency of the Maternal Breastfeeding Evaluation Scale tool, aiming at its application in the Brazilian population. Methods Cross-sectional study that applied the tool to 287 Brazilian women 30 days after childbirth. Main component analysis with varimax rotation was used for the factor analysis, verifying the number of subscales and the maintenance or extraction of the components. Four hypotheses were tested using the unpaired Student's t-test for construct validation. The reliability analysis was performed using Cronbach's alpha coefficient. Results The exploratory factor analysis identified the need to exclude an item and to reformulate the subscales. The results of the construct validity showed that all hypotheses proposed were confirmed: women who were breastfeeding, those who were exclusively breastfeeding, those who did not have problems related to breastfeeding, and those who intended to breastfeed for at least 12 months achieved significantly higher mean values in the scale. The tool showed adequate internal consistency (Cronbach's alpha = 0.88, 95% CI: 0.86-0.90), as did the pleasure and fulfillment of the maternal role subscales (0.92, 95% CI: 0.91-0.93%); child growth, development, and satisfaction (0.70; 95% CI: 0.65-0.75); and maternal physical, social, and emotional aspects (0.75, 95% CI: 0.70-0.79). Conclusions The validation process of the Brazilian version of the Maternal Breastfeeding Evaluation Scale tool showed that it is valid and reliable tool to be applied to the Brazilian population.

Resumo Objetivo Realizar a validação de constructo e avaliar a consistência interna do instrumento Maternal Breastfeeding Evaluation Scale, visando à sua aplicação na população brasileira. Métodos Estudo transversal com aplicação do instrumento a 287 mulheres brasileiras após 30 dias do nascimento da criança. Para a análise fatorial utilizou-se a análise de componentes principais com rotação varimax, verificando o número de subescalas e a manutenção ou extração dos componentes. Para a validação de constructo quatro hipóteses foram testadas pelo teste T-student não pareado. A análise de confiabilidade foi realizada utilizando o coeficiente de alfa de Cronbach. Resultados A análise fatorial exploratória identificou a necessidade de exclusão de um item e a reformulação das subescalas. Os resultados da validade de constructo mostraram que todas as hipóteses propostas foram confirmadas: as mulheres que estavam amamentando, as que estavam em amamentação exclusiva, as que não apresentavam problemas relacionados à amamentação e aquelas com intenção de amamentar por pelo menos 12 meses apresentaram valores médios significativamente superiores na escala. O instrumento apresentou consistência interna adequada (alfa de Cronbach = 0,88; IC95%: 0,86-0,90), assim como as subescalas prazer e realização do papel materno (0,92; IC95%: 0,91-0,93), crescimento, desenvolvimento e satisfação infantil (0,70; IC95%: 0,65-0,75) e aspectos físico, social e emocional materno (0,75; IC95%: 0,70-0,79). Conclusões O processo de validação do instrumento Maternal Breastfeeding Evaluation Scale/BRASIL constatou que ele é válido e confiável para ser aplicado à população brasileira.

Validation of a tool to evaluate women's satisfaction with breastfeeding for the Brazilian population.

OBJECTIVE: To perform the construct validity and the internal consistency of the Maternal Breastfeeding Evaluation Scale tool, aiming at its application in the Brazilian population. METHODS: Cross-sectional study that applied the tool to 287 Brazilian women 30 days after childbirth. Main component analysis with varimax rotation was used for the factor analysis, verifying the number of subscales and the maintenance or extraction of the components. Four hypotheses were tested using the unpaired Student's t-test for construct validation. The reliability analysis was performed using Cronbach's alpha coefficient. RESULTS: The exploratory factor analysis identified the need to exclude an item and to reformulate the subscales. The results of the construct validity showed that all hypotheses proposed were confirmed: women who were breastfeeding, those who were exclusively breastfeeding, those who did not have problems related to breastfeeding, and those who intended to breastfeed for at least 12 months achieved significantly higher mean values in the scale. The tool showed adequate internal consistency (Cronbach's alpha=0.88, 95% CI: 0.86-0.90), as did the pleasure and fulfillment of the maternal role subscales (0.92, 95% CI: 0.91-0.93%); child growth, development, and satisfaction (0.70; 95% CI: 0.65-0.75); and maternal physical, social, and emotional aspects (0.75, 95% CI: 0.70-0.79). CONCLUSIONS: The validation process of the Brazilian version of the Maternal Breastfeeding Evaluation Scale tool showed that it is valid and reliable tool to be applied to the Brazilian population.

MiniCex as an Assessment Tool of a Medical Course Internship Program / MiniCex como Instrumento para Avaliação de Programa no Internato de um Curso de Medicina / MiniCex como Instrumento para Avaliação de Programa no Internato de um Curso de Medicina

Abstract: Introduction: Program assessment is the process of data collection about a course or teaching program that takes into consideration the aspects of cost-effectiveness, checking the adequacy of the evaluation according to the course purpose and the program capacity to yield changes in real life. Such regular assessments provide feedback to the decision-making process that aim at better teaching and learning practices. The Mini Clinical Evaluation Exercise (MiniCex) is a performance rating scale designed to assess the skills that medical students and residents need in real-life situations with patients. Considering the importance of program assessment for an institution, the utilization of the MiniCex data might be of great value for the follow-up of students and the course, helping the planning process and generating improvements in the institution. Therefore, the objective of this study is to assess the program using MiniCex in the beginning of the medical internship, aiming to determine in what areas of the basic and pre-clinical course the students have more difficulties. Methods: A cross-sectional descriptive study was carried out, using the retrospective data obtained by the MiniCex forms that were applied to the 9th-semester medical students, which correspond to the first semester of medical internship in the Federal University of Pará. A total of 111 students was assessed, among the 154 students eligible for internship, from August 2017 to July 2018. Results: Among the performed evaluations, with 97% being requested by the teachers, most of them (72%) were about new cases, and 45% and 38% had low or moderate complexity, respectively. There was a predominance of musculoskeletal system disorders (27.7%), followed by the gastrointestinal/hepatology system (14.8%). Concerning the skills in each domain, the performance was satisfactory in all of them. We observed that 12% of the students had difficulties in at least one area, followed by 6.3% of students with difficulties in 2 areas and 4.5% with an unsatisfactory performance in 3 or more areas. Conclusion: the MiniCex, when applied to internship students, showed to be a source of important and useful information, as part of a program assessment concerning the areas preceding the internship. The analysis of the obtained data was sent to teachers of the pre-internship, internship and course management areas. To the first ones, with the objective of reviewing their programs, detecting where they can intervene and, thus, make changes that aim a better acquisition of basic knowledge by the students and, consequently, improve their performance. To the second ones, to provide an overview of where they will have to focus their programs according to the needs of the medical students who reach the internship. Finally, to the course management, as a guide of what should be supervised by the professionals teaching the semesters that precede the internship.

Resumo: Introdução: avaliação de programa é o processo de obtenção de informações sobre um curso ou programa de ensino que leva em consideração aspectos de custo-efetividade, de checagem da adequação da avaliação ao propósito do curso e da capacidade do programa de induzir transformação da realidade. Tais avaliações regulares retroalimentam as tomadas de decisão que almejam melhores práticas de ensino e aprendizagem. O Miniexecício Clínico Avaliativo (Mini Clinical Evaluation Exercise - MiniCex) é uma escala de classificação de desempenho projetada para avaliar as habilidades que os acadêmicos e residentes necessitam em encontros reais com os pacientes. Diante da importância da avaliação de programa para uma instituição, a utilização de dados do MiniCex pode ser de grande valia para o acompanhamento dos alunos e do curso, favorecendo o planejamento e as melhorias na instituição. Objetivo: utilizar o MiniCex como parte de uma avaliação de programa no início do internato do curso de Medicina, visando determinar as áreas do curso básico e pré-clínico nas quais o aluno possui deficiências. Métodos: Foi realizado um estudo transversal, de caráter descritivo, com a utilização de dados retrospectivos obtidos por meio das fichas do MiniCex aplicadas aos alunos do nono semestre no módulo de Clínica Médica que correspondeu ao primeiro semestre do internato da Faculdade de Medicina da Universidade Federal do Pará, sendo avaliados um total de 111 alunos dentre os 154 aptos ao internato no período de agosto de 2017 a julho de 2018. Resultados: Dentre as avaliações realizadas, com 97,2% solicitadas pelos professores, a maioria (72%) foi de casos novos, 45% e 38,7% de baixa e moderada complexidade, respectivamente. Houve predomínio afecções do sistema musculoesquelético (27,7%), seguido do sistema gastrointestinal/hepatologia (14,8%). Quanto às habilidades em cada domínio, obteve-se rendimento suficiente em todos. Observou-se que 12,6% dos alunos tiveram deficiência em pelo menos uma área, o que foi seguido de 6,3% de alunos insuficientes em duas áreas e 4,5% com rendimento insatisfatório em três ou mais áreas. Conclusão: o MiniCex aplicado aos estudantes do internato mostrou-se capaz de fornecer informações importantes e úteis como parte de uma avaliação de programa das áreas prévias ao internato. A análise dos dados obtidos foi encaminhada aos professores do pré-internato e do internato e à direção do curso. Enviou-se a análise aos primeiros para que pudessem rever seus programas e detectar em que ponto podem intervir e fazer as alterações que visem à melhor aquisição de conhecimentos básicos pelos discentes e consequentemente ao aumento do desempenho deles. Quanto aos professores do internato, o objetivo foi apresentar-lhes um panorama dos aspectos em que precisarão concentrar seus programas conforme as carências indicadas pelos acadêmicos que chegam ao internato. Por último, à direção, o material serviu de guia do que deve fiscalizar dos docentes dos semestres que antecedem o internato.

Resumo: Introdução: avaliação de programa é o processo de obtenção de informações sobre um curso ou programa de ensino que leva em consideração aspectos de custo-efetividade, de checagem da adequação da avaliação ao propósito do curso e da capacidade do programa de induzir transformação da realidade. Tais avaliações regulares retroalimentam as tomadas de decisão que almejam melhores práticas de ensino e aprendizagem. O Miniexecício Clínico Avaliativo (Mini Clinical Evaluation Exercise - MiniCex) é uma escala de classificação de desempenho projetada para avaliar as habilidades que os acadêmicos e residentes necessitam em encontros reais com os pacientes. Diante da importância da avaliação de programa para uma instituição, a utilização de dados do MiniCex pode ser de grande valia para o acompanhamento dos alunos e do curso, favorecendo o planejamento e as melhorias na instituição. Objetivo: utilizar o MiniCex como parte de uma avaliação de programa no início do internato do curso de Medicina, visando determinar as áreas do curso básico e pré-clínico nas quais o aluno possui deficiências. Métodos: Foi realizado um estudo transversal, de caráter descritivo, com a utilização de dados retrospectivos obtidos por meio das fichas do MiniCex aplicadas aos alunos do nono semestre no módulo de Clínica Médica que correspondeu ao primeiro semestre do internato da Faculdade de Medicina da Universidade Federal do Pará, sendo avaliados um total de 111 alunos dentre os 154 aptos ao internato no período de agosto de 2017 a julho de 2018. Resultados: Dentre as avaliações realizadas, com 97,2% solicitadas pelos professores, a maioria (72%) foi de casos novos, 45% e 38,7% de baixa e moderada complexidade, respectivamente. Houve predomínio afecções do sistema musculoesquelético (27,7%), seguido do sistema gastrointestinal/hepatologia (14,8%). Quanto às habilidades em cada domínio, obteve-se rendimento suficiente em todos. Observou-se que 12,6% dos alunos tiveram deficiência em pelo menos uma área, o que foi seguido de 6,3% de alunos insuficientes em duas áreas e 4,5% com rendimento insatisfatório em três ou mais áreas. Conclusão: o MiniCex aplicado aos estudantes do internato mostrou-se capaz de fornecer informações importantes e úteis como parte de uma avaliação de programa das áreas prévias ao internato. A análise dos dados obtidos foi encaminhada aos professores do pré-internato e do internato e à direção do curso. Enviou-se a análise aos primeiros para que pudessem rever seus programas e detectar em que ponto podem intervir e fazer as alterações que visem à melhor aquisição de conhecimentos básicos pelos discentes e consequentemente ao aumento do desempenho deles. Quanto aos professores do internato, o objetivo foi apresentar-lhes um panorama dos aspectos em que precisarão concentrar seus programas conforme as carências indicadas pelos acadêmicos que chegam ao internato. Por último, à direção, o material serviu de guia do que deve fiscalizar dos docentes dos semestres que antecedem o internato.

Spirituality in the continuing education of healthcare professionals: An approach to palliative care.

OBJECTIVE: A major barrier to the adoption of an approach that integrates spirituality into palliative care is the lack of preparation/education of healthcare professionals on the topic. This study aimed to evaluate the effectiveness of a continuing education activity for healthcare professionals addressing spirituality and spiritual care provision to patients and families within palliative care. METHOD: We conducted an intervention study using a quantitative pre- and posttest design in a convenience sample of 52 healthcare professionals. Participants completed the Brazilian version of the Spiritual Care Competence Scale before and after attending a four-hour continuing education activity. RESULT: Significant differences were observed between pre- and postintervention scores in the following dimensions: assessment and implementation of spiritual care, professionalization and improving the quality of spiritual care, personal support, and patient counseling (p < 0.001), and referral (p = 0.003). SIGNIFICANCE OF RESULTS: The results of this study provide preliminary evidence of a positive effect of this educational intervention on the development of the competences needed by healthcare professionals to deliver a comprehensive approach centered on the patient/family, which includes attention to spirituality and spiritual care in the decision-making process.

Clinical and Molecular Characterization of Adult Glioblastomas in Southern Brazil.

We investigated 113 adult Brazilian patients with glioblastoma (GBM) for comparison with patients from distinct geographical areas and evaluation of suitability for novel targeted therapies. Patients were assessed for clinical features and tumor genomic characteristics such as ROS1 and NTRK1 rearrangements, KIT, PDGFRA, and KDR amplification, and RB1 deletion using multicolor fluorescence in situ hybridization. The majority of patients were male (53%), over 40 years (94%), with tumor located in single site (64%), in the right cerebral hemisphere (60%), and underwent partial resection (71%); 14% presented complications after surgery. The main clinical sign at diagnosis was focal abnormality (57%); frontal (31%); and temporal (20%) regions were most commonly affected. Median hospitalization time was 20 days, median survival was 175 days. One tumor was positive for rearrangement in NTRK1 and another in ROS1 (0.9% each). PDGFRA was amplified in 20% of cases, often co-amplified with KDR (>90%) and KIT (>60%). RB1 was deleted in 16% of patients. There was no association between these molecular abnormalities and patient survival. However, older age, complications after surgery, and right-sided tumors were independent variables associated with patient survival. This study contributes information on the molecular profile of glioblastomas in Latin America possibly supporting new target therapies.

Periconceptional folic acid supplementation in Southern Brazil: Why are not we doing it right?

Several countries, as Brazil, have public policies for periconceptional folic acid supplementation (FAS) in order to prevent unfavorable outcomes. Our aim was to evaluate the FAS situation in a public reference hospital from Southern Brazil. This study included all mothers who had children born at the Hospital Materno Infantil Presidente Vargas, RS, Brazil, in a 1-year period. Data collection was conducted through interviews with application of a clinical protocol and analysis of the patients' records. FAS was defined as the use of folic acid in any period of the periconceptional period, irrespective of the duration and amount. We also classified those mothers who correctly followed the national recommendation proposed by the Health Ministry of Brazil. The sample consisted of 765 mothers evaluated soon after childbirth. Their ages ranged from 12 to 45 years (mean 25.2 years). The overall level of FAS was 51.5%, and the use according to the national recommendation occurred in only 1.6%. Factors associated with non-FAS consisted of lower maternal age (p = .009) and maternal schooling (p = .023), higher number of pregnancies (p = .003), fewer prenatal visits (p = .050) and later prenatal care onset (p = .037). Periconceptional FAS in our midst seems to be very far from the ideal goal. Susceptible groups appeared to be mothers who were younger, less educated, multiparous, and had inadequate prenatal care. We believe that efforts of education and awareness should be especially targeted for these groups. These recommendations should also be strengthened among those who prescribe the FAS.

Frequency and clinical significance of chromosome 7 and 10 aneuploidies, amplification of the EGFR gene, deletion of PTEN and TP53 genes, and 1p/19q deficiency in a sample of adult patients diagnosed with glioblastoma from Southern Brazil.

Glioblastoma stands out as the most frequent central nervous system neoplasia, presenting a poor prognosis. The aim of this study was to verify the frequency and clinical significance of the aneuploidy of chromosomes 7 and 10, EGFR amplification, PTEN and TP53 deletions and 1p/19q deficiency in adult patients diagnosed with glioblastoma. The sample consisted of 40 patients treated from November 2011 to March 2015 at two major neurosurgery services from Southern Brazil. Molecular cytogenetic analyses of the tumor were performed through fluorescent in situ hybridization (FISH). The clinical features evaluated consisted of age, sex, tumor location, clinical symptoms, family history of cancer, type of resection and survival. The mean age of the patients was 59.3 years (ranged from 41 to 83). Most of them were males (70%). The median survival was 145 days. Chromosome 10 monosomy was detected in 52.5% of the patients, chromosome 7 polysomy in 50%, EGFR amplification in 42.5%, PTEN deletion in 35%, TP53 deletion in 22.5%, 1p deletion in 5% and 19q deletion in 7.5%. Age was shown to be a prognostic factor, and patients with lower age presented higher survival (p = 0.042). TP53 and PTEN deletions had a negative impact on survival (p = 0.011 and p = 0.037, respectively). Our data suggest that TP53 and PTEN deletions may be associated with a poorer prognosis. These findings may have importance over prognosis determination and choice of the therapy to be administered.

Birth weight, length and head circumference: Progression and impact over the outcome of patients with congenital heart disease.

BACKGROUND: There are few studies assessing the birth measures of patients with congenital heart disease (CHD). Our aim to evaluate their progression and impact over the outcome. METHODS: The cases consisted of patients with CHD during their first hospitalization in a reference cardiac and pediatric intensive care unit (ICU) from Southern Brazil. Controls were composed of patients with no clinical evidence of CHD hospitalized soon after cases. The cases underwent high-resolution karyotype and fluorescence in situ hybridization (FISH) for 22q11 microdeletion. We analyzed birth weight, length and head circumference of patients of both groups. For CHD patients, we evaluated their progression and impact until hospitalization at ICU. RESULTS: Our sample was composed of 198 cases and controls. We observe a difference in birth weight of CHD patients only in relation to general population. There was a significant increase in children with CHD and weight below the lower limit from birth until the hospitalization at ICU, and this occurred more in those without complex CHD. Syndromic patients and with an extracardiac malformation also presented a greater difficulty to maintain not only the weight but also the length/height until the hospitalization. Individuals with weight below the lower limit at hospitalization who died had a tendency to present longer stay at ICU. CONCLUSIONS: Some CHD patients, especially without complex defects, and with syndromic aspect and a major extracardiac malformation, present a higher difficult to maintain their weight and growth, and, therefore, may be at risk and should be more closely monitored.

Tumor size and prognosis in patients with Wilms tumor / Tamanho tumoral e prognóstico em pacientes portadores de tumor de Wilms

OBJECTIVE: Investigate the relationship of the tumor volume after preoperative chemotherapy (TVAPQ) and before preoperative chemotherapy (TVBPQ) with overall survival at two and at five years, and lifetime. METHODS: Our sample consisted of consecutive patients evaluated in the period from 1989 to 2009 in an Onco-Hematology Service. Clinical, histological and volumetric data were collected from the medical records. For analysis, chi-square, Kaplan-Meier, log-rank and Cox regression tests were used. RESULTS: The sample consisted of 32 patients, 53.1% were male with a median age at diagnosis of 43 months. There was a significant association between TVAPQ>500mL and the difference between the TVBPQ and TVAPQ (p=0.015) and histologic types of risk (p=0.008). It was also verified an association between the difference between the TVBPQ and TVAPQ and the predominant stromal tumor (p=0.037). When assessing the TVAPQ of all patients, without a cutoff, there was an association of the variable with lifetime (p=0.013), i.e., for each increase of 10mL in TVAPQ there was an average increase of 2% in the risk of death. CONCLUSIONS: Although our results indicate that the TVAPQ could be considered alone as a predictor of poor prognosis regardless of the cutoff suggested in the literature, more studies are needed to replace the histology and staging by tumor size as best prognostic variable. .

OBJETIVO: Investigar a relação entre o volume do tumor após a quimioterapia pré-operatória (VTPOS) e antes da quimioterapia pré-operatória (VTPRE) com sobrevida geral aos dois e cinco anos e tempo de vida. MÉTODOS: A amostra foi composta por pacientes consecutivos avaliados de 1989 a 2009, em um serviço de onco-hematologia. Os dados clínicos, histológicos e volumétricos foram coletados a partir dos registros médicos. Para análise, usaram-se os testes qui-quadrado, Kaplan-Meier, log-rank e regressão de Cox. RESULTADOS: A amostra foi composta de 32 pacientes, 53,1% do sexo masculino, com mediana de idade ao diagnóstico de 43 meses. Houve associação significativa entre VTPOS >500 mL e a diferença entre o VTPRE e VTPOS (p=0,015) e os tipos histológicos de risco (p=0,008). Verificou-se também uma associação entre a diferença entre o VTPRE e VTPOS e o tumor de predomínio estromal (p=0,037). Quando se avaliou o VTPOS de todos os pacientes, sem um ponto de corte definido, observou-se associação dessa variável com o tempo de vida (p=0,013), isto é, para cada aumento de 10 mL no VTPOS houve um aumento médio de 2% no risco de morte. CONCLUSÕES: Embora os resultados indiquem que o VTPOS poderia ser considerado um preditor isolado de mau prognóstico, independentemente do ponto de corte sugerido na literatura, mais estudos são necessários para substituir a histologia e estadiamento pelo tamanho do tumor como melhor variável prognóstica. .

[Tumor size and prognosis in patients with Wilms tumor]. / Tamanho tumoral e prognóstico em pacientes portadores de tumor de Wilms.

OBJECTIVE: Investigate the relationship of the tumor volume after preoperative chemotherapy (TVAPQ) and before preoperative chemotherapy (TVBPQ) with overall survival at two and at five years, and lifetime. METHODS: Our sample consisted of consecutive patients evaluated in the period from 1989 to 2009 in an Onco-Hematology Service. Clinical, histological and volumetric data were collected from the medical records. For analysis, chi-square, Kaplan-Meier, log-rank and Cox regression tests were used. RESULTS: The sample consisted of 32 patients, 53.1% were male with a median age at diagnosis of 43 months. There was a significant association between TVAPQ >500 mL and the difference between the TVBPQ and TVAPQ (p=0.015) and histologic types of risk (p=0.008). It was also verified an association between the difference between the TVBPQ and TVAPQ and the predominant stromal tumor (p=0.037). When assessing the TVAPQ of all patients, without a cutoff, there was an association of the variable with lifetime (p=0.013), i.e., for each increase of 10 mL in TVAPQ there was an average increase of 2% in the risk of death. CONCLUSIONS: Although our results indicate that the TVAPQ could be considered alone as a predictor of poor prognosis regardless of the cutoff suggested in the literature, more studies are needed to replace the histology and staging by tumor size as best prognostic variable.

Wilms tumor: experience of a hospital in southern Brazil.

BACKGROUND: Wilms tumor (WT) is the most common renal malignancy of childhood. The aim of this study was to verify the epidemiological profile and prognosis of a sample of patients from Brazil and compare them to similar data from other Latin American studies. METHOD: The sample consisted of consecutive patients diagnosed with WT in an oncohematology service of a referral hospital in Southern Brazil, between 1989 and 2009. Clinical, radiological, pathological and survival data were collected from the medical records. Analysis was done using Excel and SPSS version 18.0. The significance level was set at P < 0.05. RESULTS: The final sample consisted of 45 patients. The male/female ratio was 1.25:1. Mean age at diagnosis was 43.9 months and all patients were of European descent. Thirty-three patients (73.3%) had both signs/symptoms of abdominal mass and hypertension. Malformation was observed in nine patients (20%) and there was one case of Fanconi's anemia (2.2%). Three patients had bilateral disease (6.7%). The majority of patients had stage III and IV (62.2%). Patients with malformation had an earlier age at diagnosis (P = 0.018) and a higher prevalence of bilateral disease (P = 0.044). Overall survival was 75%. Age at diagnosis was the only significant independent predictor associated with death. CONCLUSION: Death is closely related to late diagnosis in WT. Oncologic services should also be concerned about morbidity caused by therapeutic options in cases of late diagnosis, and the consequences for quality of life.

Evaluation of genotoxic effects of benzene and its derivatives in workers of gas stations.

The search for reliable biomarkers of human exposure to benzene and its derivatives is still subject of research. Many of the proposed biomarkers have limitations ranging from the low sensitivity to the wide variability of results. Thus, the aim of our study was to assess the frequencies of chromosomal abnormalities (CA) and sister chromatid exchanges (SCE) in workers of gas stations, with (cases, n = 19) and without (local controls, n = 6) risk of exposure to benzene and its derivatives, comparing them with the results from the general population (external controls, n = 38). The blood dosages of benzene, toluene, and xylenes were measured in all participants. Blood solvent levels were compared with the findings obtained in cytogenetic evaluation and a research protocol which included data of the workplace, lifestyle, and health of the individuals. We did not detect the presence of benzene and its derivatives and did not find chromosomal damage that may be associated with the gas station activity in cases. Moreover, although we found an association of increased SCE and the working time in the local controls, the values found for SCE are within normal limits. Thus, our evaluation of SCE and CA reflected the levels of benzene and its derivatives observed in the blood. We believe, therefore, that SCE and CA may actually constitute possible tests for the evaluation of these exposures. However, we believe that further studies, including individuals at risk, are important to confirm this assertion.

Trisomy 18 and neural tube defects.

BACKGROUND: Trisomy 18 or Edwards syndrome is a chromosomal abnormality characterized by a broad clinical picture and a limited survival. More than 130 different abnormalities have been described in these patients-among them are neural tube defects. METHODS: We verified the frequency and types of major neural tube defects observed among patients with trisomy 18. Our sample consisted of consecutive patients evaluated by a clinical genetics service of a referral hospital in southern Brazil between 1975 and 2008. Fisher's exact test (two-tailed) and chi-square test with Yates' correction were used to compare frequencies (P < 0.05 values were considered as significant). RESULTS: During the period of evaluation, we identified 50 patients with trisomy 18; 33 (66%) were female and age at the first evaluation ranged from 1 day to 16 years (median 14 days). One cell line with full trisomy 18 was the predominant cytogenetic finding (90%). Three patients (6%) had major neural tube defects, all females. These were two patients (4%) with encephaloceles and one (2%) with myelomeningocele. This last patient undergo to correction surgery on her first day of life. CONCLUSIONS: Our data, in accordance with the literature, support the idea that the presence of neural tube defects among patients with trisomy 18 is not coincidental (i.e., these defects are actually part of the spectrum of abnormalities presented in trisomy 18). Thus, the diagnosis of trisomy 18 should be considered in children with major neural tube defects, especially in the presence of other abnormalities or dysmorphisms.

Cytogenetic response to imatinib treatment in Southern Brazilian patients with chronic myelogenous leukemia and variant Philadelphia chromosome.

Variant Philadelphia (Ph) chromosome can be observed in 5-10 % of chronic myelogenous leukemia (CML) patients. However, there are only a few studies which have analyzed the prognostic implications of these complex translocations in CML patients after the advent of imatinib mesylate and the results found are conflicting. We investigated the clinical features and cytogenetic response of Brazilian chronic phase (CP) CML patients with variant Ph treated with imatinib mesylate. Among 93 CP CML patients, eight (8.6 %) exhibited complex translocations, involving one (n = 6), two (n = 1), or three (n = 1) additional chromosomes. At 6, 12, and 18 months, a complete cytogenetic response was observed in 100 % of variant Ph patients, respectively. No significant difference was found between variant Ph and standard translocation patients regarding the response to IM treatment at 6, 12, and 18 months. Likewise, there was no statistically significant difference between the two groups concerning the overall survival, failure-free survival, progression-free survival, and event-free survival. The results obtained in our study, despite our sample size, suggest, in agreement to other data found in the literature, that the presence of variant Philadelphia chromosome does not bestow a prognostic disadvantage when compared to the group with classic Ph. This observation does not suggest the need to adjust the treatment protocol due to the presence of variant Ph. However, further studies with larger sample sizes and evaluating both the cytogenetic and molecular response to IM treatment should be conducted to confirm our findings.

Malformations detected by abdominal ultrasound in children with congenital heart disease.

BACKGROUND: Extracardiac malformations may be present in patients with congenital heart disease (CHD), bringing greater risk of comorbidity and mortality. OBJECTIVE: Verify frequency and types of abdominal abnormalities detected in children with and without CHD through abdominal ultrasound (AUS), compare the patients in relation to their dysmorphic/cytogenetic findings and perform an estimative of the cost-effectiveness of the screening through AUS. METHODS: We conducted a cross-sectional study with a control cohort. The cases consisted of patients with CHD admitted for the first time in a pediatric intensive care unit; the controls consisted of children without CHD who underwent AUS at the hospital shortly thereafter a case. All patients with CHD underwent AUS, high-resolution karyotype and fluorescence in situ hybridization (FISH) for microdeletion 22q11.2. RESULTS: AUS identified clinically significant abnormalities in 12.2% of the cases and 5.2% of controls (p= 0.009), with a power of significance of 76.6%. Most malformations with clinical significance were renal anomalies (10.4% in cases and 4.9% in controls; p= 0.034). In Brazil, the cost of an AUS examination for the Unified Health System is US$ 21. Since clinically significant abnormalities were observed in one in every 8.2 CHD patients, the cost to identify an affected child was calculated as approximately US$ 176. CONCLUSION: Patients with CHD present a significant frequency of abdominal abnormalities detected by AUS, an inexpensive and noninvasive diagnostic method with good sensitivity. The cost of screening for these defects is considerably lower than the cost to treat the complications of late diagnoses of abdominal malformations such as renal disease.

Malformações detectadas pelo ultrassom abdominal em crianças com cardiopatia congênita / Malformations detected by abdominal ultrasound in children with congenital heart disease

FUNDAMENTO: Malformações extracardíacas podem estar presentes em pacientes com cardiopatia congênita (CC), trazendo maior risco de comorbidade e mortalidade. OBJETIVO: Verificar a frequência e os tipos de anormalidades abdominais detectadas em crianças com e sem CC através do ultrassom abdominal (USA), comparar os pacientes quanto a seus achados dismórficos/citogenéticos e realizar uma estimativa do custo-benefício da triagem pelo USA. MÉTODOS: Foi realizado um estudo transversal com controle. Os casos consistiram de pacientes com CC admitidos pela primeira vez em uma unidade de terapia intensiva pediátrica; os controles consistiram de crianças sem CC submetidas ao USA no hospital logo após cada caso. Todos os pacientes com CC foram submetidos ao USA, ao cariótipo de alta resolução e à hibridização in situ fluorescente (FISH) para microdeleção 22q11.2. RESULTADOS: USA identificou anormalidades clinicamente significativas em 12,2% dos casos e em 5,2% dos controles (p = 0,009), com um poder de significância de 76,6%. A maioria das malformações com significado clínico foi de anomalias renais (10,4% nos casos e 4,9% nos controles, p = 0,034). No Brasil, o custo de um exame de USA pelo Sistema Único de Saúde é de 21 dólares. Uma vez que anormalidades clinicamente significativas foram observadas em um a cada 8,2 pacientes com CC, o custo para identificar uma criança afetada foi de 176 dólares. CONCLUSÃO: Pacientes com CC apresentam uma frequência significativa de anomalias detectadas pelo USA, um método diagnóstico barato e não invasivo, com boa sensibilidade. O custo da triagem para esses defeitos é consideravelmente menor que o custo para tratar as complicações do diagnóstico tardio de malformações abdominais, como a doença renal.

BACKGROUND: Extracardiac malformations may be present in patients with congenital heart disease (CHD), bringing greater risk of comorbidity and mortality. OBJECTIVE: Verify frequency and types of abdominal abnormalities detected in children with and without CHD through abdominal ultrasound (AUS), compare the patients in relation to their dysmorphic/cytogenetic findings and perform an estimative of the cost-effectiveness of the screening through AUS. METHODS: We conducted a cross-sectional study with a control cohort. The cases consisted of patients with CHD admitted for the first time in a pediatric intensive care unit; the controls consisted of children without CHD who underwent AUS at the hospital shortly thereafter a case. All patients with CHD underwent AUS, high-resolution karyotype and fluorescence in situ hybridization (FISH) for microdeletion 22q11.2. RESULTS: AUS identified clinically significant abnormalities in 12.2% of the cases and 5.2% of controls (p= 0.009), with a power of significance of 76.6%. Most malformations with clinical significance were renal anomalies (10.4% in cases and 4.9% in controls; p= 0.034). In Brazil, the cost of an AUS examination for the Unified Health System is US$ 21. Since clinically significant abnormalities were observed in one in every 8.2 CHD patients, the cost to identify an affected child was calculated as approximately US$ 176. CONCLUSION: Patients with CHD present a significant frequency of abdominal abnormalities detected by AUS, an inexpensive and noninvasive diagnostic method with good sensitivity. The cost of screening for these defects is considerably lower than the cost to treat the complications of late diagnoses of abdominal malformations such as renal disease.