RESUMOOBJETIVO. O aumento da população idosa no Brasil justifica a necessidade de avaliar os aspectos que podem interferir na qualidade de vida de aposentados. MÉTODOS. A versão brasileira do questionário SF-36 foi aplicada em 87 aposentados para avaliação da qualidade de vida. Os resultados obtidos foram associados às características demográficas, socioeconômicas, condições de saúde e estilo de vida e foram estudados por meio de análise uni e multivariada. RESULTADOS. A idade média foi de 57,3 anos (desvio-padrão de 8,9 anos) e tempo médio de aposentadoria foi de 7,1 anos. A aposentadoria foi por invalidez em 55,2% da amostra e 23,4% dos aposentados trabalhavam no momento da pesquisa. Os fumantes somaram 11,5% e 5,7% eram dependentes de álcool. A depressão e hipertensão arterial sistêmica foram as doenças mais prevalentes, e 56,3% dos aposentados praticavam algum tipo de atividade física regularmente. Após a análise multivariada, evidenciou-se melhor qualidade de vida apenas nos aposentados que praticavam atividade física regular ou que tinham alguma atividade de trabalho no momento da pesquisa. CONCLUSÃO. O questionário SF-36 foi um instrumento adequado, de aplicação relativamente rápida e de fácil uso para avaliação da qualidade de vida em aposentados. A qualidade de vida na amostra estudada foi associada ao estilo de vida dos pacientes e aponta para a necessidade de ações que contribuam de forma positiva para melhorar o estilo de vida nesta nova fase da vida. UNITERMOS INTRODUÇÃOVários estudos no Brasil e no mundo discutem o conceito de qualidade de vida -termo muitas vezes confundido com estilo de vida, condições de vida e situações de vida -e os instrumentos mais adequados para sua avaliação. Apesar das intensas discussões sobre o assunto, a definição de qualidade de vida ainda não é uniforme. Para melhor compreensão do conceito "qualidade de vida", deve-se diferenciá-lo do estado de saúde por meio de três dimensões principais: saúde mental, função física e função social. Para o estado de saúde, o fator mais importante é a função física. Para a qualidade de vida tornase importante também a saúde mental e o bem-estar psicológico e social. Dessa forma, instrumentos diferentes devem ser utilizados para a avaliação da qualidade de vida e do estado de saúde 1,2 .A qualidade de vida pode estar diretamente associada à ausência de enfermidades, em especial à ausência de sintomas ou disfunções. Alguns autores, contudo, consideram este conceito reducionista, uma vez que aspectos não relacionados ao estado de saúde são considerados na avaliação da qualidade de vida 3 .A noção de qualidade de vida transita, portanto, em um campo semântico polissêmico: de um lado, encontra-se relacionada ao modo de vida, suas condições e estilos; de outro, inclui idéias sobre o desenvolvimento sustentável e sobre os direitos humanos e sociais. Estas noções se unem em uma resultante social de construção coletiva dos padrões de conforto e tolerância que determinada sociedade estabelece como referência 3 .Tendências atuais enfatizam a su...

Pulmonary arterial hypertension (PAH) is a disease of the lung blood vessels that results in right heart failure. PAH is thought to occur in about 5% to 10% of patients with hepatosplenic schistosomiasis, particularly due to S. mansoni. The lung blood vessel injury may result from a combination of embolization of eggs through portocaval shunts into the lungs causing localized Type 2 inflammatory response and vessel remodeling, triggering of autonomous pathology that becomes independent of the antigen, and high cardiac output as seen in portopulmonary hypertension. The condition is likely underdiagnosed as there is little systematic screening, and risk factors for developing PAH are not known. Screening is done by echocardiography, and formal diagnosis requires invasive right heart catheterization. Patients with Schistosoma-associated PAH show reduced functional capacity and can be treated with pulmonary vasodilators, which improves symptoms and may improve survival. There are animal models of this disease that might help in understanding disease pathogenesis and identify novel targets to screen and treatment. Pathogenic mechanisms include Type 2 immunity and activation and signaling in the TGF-β pathway. There are still major uncertainties regarding Schistosoma-associated PAH development, course and treatment.

Purpose To study the β-catenin gene in a group of MayerRokitansky-Küster-Hauser patients. Methods Twelve patients with the Mayer-RokitanskyKüster-Hauser syndrome were included in this study. DNA was extracted from peripheral blood and the region codifying β-catenin GSK-3β phosphorylation sites on exon 3 was amplified. PCR products were purified and directly sequenced.Results No mutations were found in the GSK-3β phosphorylation sites on exon 3 of β-catenin gene in this group of patients with the MRKH syndrome. Conclusions β-catenin gene mutations are an unlikely cause of the MRKH syndrome.Keywords Mayer-Rokitansky-Küster-Hauser syndrome . β-catenin . molecular analysis . Müllerian ducts . anti-Müllerian hormone Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (MIM *277000), a congenital malformation of the Müllerian ducts, is the second most common cause of primary amenorrhea, occurring in one in every 4,000 to 5,000 female live births. The extent of MRKH anomaly is variable, ranging from upper vaginal atresia and rudimentary uterus to total uterine, fallopian tubes and upper vaginal agenesis. Additional congenital skeletal and renal abnormalities are present in approximately 30% of the patients [1]. Clinically, the diagnosis should be suspected if primary amenorrhea and infertility are present in 46, XX individuals with normal ovaries and normal secondary sexual characteristics.The cause of the MRKH syndrome remains unexplained. The presence of familial clustering described in previous studies suggests a genetic defect [2,3]. Nevertheless, the molecular basis of the MRKH syndrome has not yet been established. The putative defective gene could be either involved in the process of Müllerian duct formation, or associated with abnormal activation of the anti-Müllerian hormone (AMH) signaling pathway, leading to Müllerian duct regression. Indeed, both hypotheses could ultimately result in the MRKH syndrome phenotype.Comprising the first group, several genes encoding transcription factors and signaling molecules have been studied. WT1, PAX-2, WNT-7a, RXR-alpha, RXR-gamma, HOXA-7 to HOXA-13, and PBX-1 are genes required for Müllerian duct formation and differentiation, which have been evaluated in different groups of patients and were all excluded as causes of the MRKH syndrome [4][5][6][7][8]. Analysis of WNT4, a gene encoding a signaling molecule crucial for ovarian and uterine development, has provided us with interesting information. WNT4 gene mutations have been described in patients with Mullerian duct abnormalities and hyperandrogenism [9-11], but were not found in patients with the classic MRKH syndrome phenotype [6,[11][12][13]. These results suggest that WNT4 gene mutation is a clinical phenotype distinct from the isolated MRKH, and exclude it J Assist Reprod Genet (2008) 25:511-514 DOI 10.1007/s10815-008-9261-y Capsule β-catenin gene mutations were not detected in a group of twelve patients with the Mayer-Rokitansky Küster-Hauser (MRKH) anomaly.

OBJECTIVE: To evaluate respiratory muscle strength and six-minute walk test (6MWT) variables in patients with uncontrolled severe asthma (UCSA). METHODS: This was a cross-sectional study involving UCSA patients followed at a university hospital. The patients underwent 6MWT, spirometry, and measurements of respiratory muscle strength, as well as completing the Asthma Control Test (ACT). The Mann-Whitney test was used in order to analyze 6MWT variables, whereas the Kruskal-Wallis test was used to determine whether there was an association between the use of oral corticosteroids and respiratory muscle strength. RESULTS: We included 25 patients. Mean FEV1 was 58.8 ± 21.8% of predicted, and mean ACT score was 14.0 ± 3.9 points. No significant difference was found between the median six-minute walk distance recorded for the UCSA patients and that predicted for healthy Brazilians (512 m and 534 m, respectively; p = 0.14). During the 6MWT, there was no significant drop in SpO2. Mean MIP and MEP were normal (72.9 ± 15.2% and 67.6 ± 22.2%, respectively). Comparing the patients treated with at least four courses of oral corticosteroids per year and those treated with three or fewer, we found no significant differences in MIP (p = 0.15) or MEP (p = 0.45). CONCLUSIONS: Our findings suggest that UCSA patients are similar to normal subjects in terms of 6MWT variables and respiratory muscle strength. The use of oral corticosteroids has no apparent impact on respiratory muscle strength.

Background Pulmonary Hypertension (PH) impacts negatively on patients’ health-related quality of life (HRQoL). The Cambridge Pulmonary Hypertension Outcome Review (CAMPHOR) was the first PH-specific and validated instrument for use in different languages worldwide. This report describes the adaptation and psychometric validation of the CAMPHOR into Brazilian Portuguese language. Methods The translation and validation process included a bilingual and lay panel translation; cognitive debriefing interviews; psychometric testing in two repeated times assessing internal consistency, reproducibility and validity of the questionnaire. The Nottingham Health Profile (NHP) questionnaire was used as a comparator to test for convergent validity. Results The translation captured the same concepts as the English questionnaire and produced a comprehensive instrument in a Brazilian-Portuguese version expressing common, natural language. The psychometric evaluation involved 102 patients (48.8 ± 14.5 years, 80,4% female]. Cronbach’s alpha coefficients were above 0.9 on all three CAMPHOR scales. There was excellent test-retest reliability (coefficients above 0.85 on all scales). CAMPHOR Symptoms scale and Activities scale correlated highly with Physical Mobility section and CAMPHOR QoL scale was strongly associated with the Emotional Reactions and Social Isolation sections of NHP. There was a significant association between gender and perceived general health (p < 0.05). There were significant differences in CAMPHOR scale scores between patients who differed according to their perceived disease severity and general health. Conclusions The present CAMPHOR version demonstrated good psychometric properties and provides a reliable instrument for assessing HRQL and QoL in Brazilian PH patients, addressing patients’ perspective of their illness in a comprehensive way.

Heart rate recovery in 1 minute (HRR1) after the end of the 6-minute walk test (6MWT) is a non-invasive method of determining autonomic dysfunction. This parameter remains largely unexplored in pulmonary arterial hypertension (PAH) registries. We aimed to define the cut-off value and accuracy for abnormal HRR1 after the 6MWT and to investigate the association between HRR1 and clinical worsening in patients with PAH. This composite outcome was defined as first occurrence of all-cause death OR hospitalization from any cause OR disease progression characterized by decreased ≥ 15% in six-minute walking distance from baseline AND start of new specific PAH treatment or persistent worsening of World Health Organization functional class (WHO-FC). We performed a prospective cohort study that included 102 consecutive patients with PAH confirmed by right heart catheterization that underwent an 6MWT upon the diagnosis, recruited from September 2004 to April 2020 and followed up until April 2021 or death. The median HRR1 was 18 beats (IQR: 10–22), 50 and 52 PAH patients with <18 beats and ≥18 beats, respectively. The best cut-off for HRR1 to discriminate clinical worsening was 17 beats, with area under the curve (AUC) of 0.704 (95%CI: 0.584–0.824). The internal validation model by bootstrap showed an AUC of 0.676 (95%CI: 0.566–0.786) and the most accurate value was obtained in the seventh year of follow-up (AUC = 0.711; 95%CI: 0.596–0.844). Patients with an HRR1 <18 beats at baseline had a median event-free time of 2.17 years (95%CI: 1.82 to 2.52) versus 4.75 years (95%CI: 1.43 to 8.07) from those with ≥18 beats. In conclusion, a HRR1 value of less than 18 beats may be a reliable indicator of poor prognosis in patients with PAH.

Fundamento: O ecocardiograma transtorácico (ETT) tem um papel de triagem no algoritmo diagnóstico da hipertensão pulmonar (HP). Estudos demonstraram uma discordância significativa entre as medições do ETT da pressão arterial pulmonar sistólica (PAPs) e da pressão atrial direita (PAD) e as obtidas pelo cateterismo do coração direito (CCD). Objetivo: Comparar as medições do ETT da PAPs e da PAD com as obtidas pelo CCD em pacientes com suspeita de HP. Métodos: Pacientes encaminhados a um centro de referência com probabilidade alta ou intermediária de PH ao ETT na admissão hospitalar passaram por CCD. A concordância entre a PAPs e a PAD em ambos os procedimentos foi avaliada pelo teste de Bland-Altman. Diferenças de até 10 mmHg na PAPs e de até 5 mmHg na PAD foram consideradas dentro da variabilidade do teste. A curva de característica de operação do receptor (ROC) foi construída para determinar os valores mais precisos de PAPs e VRT associados ao diagnóstico de HP pelo CCD. O nível de significância estatística adotado foi 5%. Resultados: Foram incluídos noventa e cinco pacientes. A análise de Bland-Altman análise revelou um viés de 8,03 mmHg (IC 95%: -34,9 a 50,9) na PAPs e -3,30 mmHg (IC 95%: -15,9 a 9,3) na PAD. AUC da PAPs e VRT medidas pelo ETT para a discriminação de provável HP foram de 0,936 (IC 95%: 0,836 a 1,0) e 0,919 (IC 95%: 0,837 a 1,0), respectivamente. Entretanto, apenas 33,4% da estimativa ecocardiográfica da PAPs e 55,1% da PAD foram precisas, em comparação às medições obtidas pelo CCD. Conclusão: O ETT tem um alto poder discriminatório como método diagnóstico de triagem para HP, apesar de apresentar discordâncias entre os valores absolutos de PAPs e PAD, em comparação às medições por CCD. Palavras-chave: Ecocardiografia; Hipertensão Pulmonar; Confiabilidade dos Dados.

Purpose: Studies in the context of research have shown a significant disagreement between the echocardiographic measurement of the systolic pulmonary artery pressure (sPAP) and right atrial pressure (RAP) and that obtained by right heart catheterization (RHC). We compare measurements of sPAP and RAP, verified by transthoracic echocardiogram (TTE) with those detected by RHC in patients being investigated for pulmonary hypertension (PH). Methods: Cross-sectional study was performed in a context of usual clinical practice in the public referral center for PH, including patients with high or intermediate echocardiographic probability of pulmonary arterial hypertension and chronic thromboembolic PH. Bland-Altman test was used to assess the agreement amongthe values and ROC curve to identify sPAP and tricuspid regurgitation velocity (TRV) values ​​with better accuracy. Clinically acceptable differences of 10 mmHg for sPAP and 5 mmHg for RAP were considered.Results: Ninety-five patients were included. The Bland-Altman analysis showed a bias of 8.03 mmHg for sPAP and -3.30 mmHg for RAP. Area under the curve for sPAP and TRV measured by TTE were 0.936(95% CI: 0.836-1.0) and 0.919(95% CI: 0.837-1.0), respectively. According to the pre-defined pressure differences, only 33.4% of the echocardiographic estimate of sPAP and 55.1% of RAP were accurate, as compared to the measurements obtained by RHC. Conclusions: Real life study revealed that echocardiographic evaluation demonstrated a high discriminatory power for diagnosis of PH, but sPAP and RAP measurements showed significant disagreements in relation to hemodynamic measures. The technical improvement of diagnostic services may contribute to the earlier recognition of this condition by TTE.