RESUMO
We report a 55-year-old woman with a long history of a gait disturbance that was followed by dysarthria and urinary incontinence. She underwent brain MRI, SPECT with TRODAT imaging and whole-exome sequencing, revealing the diagnosis of SPG7. She developed parkinsonism responsive to levodopa, expanding the phenotype of complex SPG7.
Assuntos
ATPases Associadas a Diversas Atividades Celulares/genética , Dopaminérgicos/uso terapêutico , Dopamina/deficiência , Levodopa/uso terapêutico , Metaloendopeptidases/genética , Transtornos Parkinsonianos/genética , Encéfalo/diagnóstico por imagem , Encéfalo/efeitos dos fármacos , Encéfalo/metabolismo , Feminino , Humanos , Pessoa de Meia-Idade , Compostos de Organotecnécio/farmacocinética , Transtornos Parkinsonianos/diagnóstico por imagem , Transtornos Parkinsonianos/tratamento farmacológico , Transtornos Parkinsonianos/metabolismo , Tomografia Computadorizada de Emissão de Fóton Único , Tropanos/farmacocinéticaRESUMO
Lead endocarditis (LE) is one of the most feared complications and remains a challenging diagnosis in cardiology due to the possibility of an obscure clinical course and symptoms, leading to a delayed diagnosis, or even no diagnosis. (18)F-fluorodeoxyglucose positron emission tomography-computed tomography (FDG PET/CT) appears to be a valuable imaging technique and has been shown to have advantages in the diagnosis of patients with fever of unknown origin. We present the case of a 52-year-old man with a 3-year history of intermittent fever, chills, anemia, and weight loss (13kg). He was submitted to an extensive investigation to clarify his symptoms and all results were negative. LE was finally diagnosed by FDG PET/CT. This examination could become a useful noninvasive method for the detection of LE at an earlier stage, thus avoiding repeated tests and reducing the length of hospital stay.
Assuntos
Endocardite não Infecciosa/etiologia , Febre de Causa Desconhecida/etiologia , Fluordesoxiglucose F18 , Marca-Passo Artificial/efeitos adversos , Tomografia por Emissão de Pósitrons/métodos , Compostos Radiofarmacêuticos , Anemia , Diagnóstico Diferencial , Endocardite não Infecciosa/diagnóstico por imagem , Febre de Causa Desconhecida/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Reoperação , Sensibilidade e Especificidade , Redução de PesoRESUMO
BACKGROUND: To establish a risk score for heart surgery allows the assessment of preoperative risk, informing the patient and defining care during the intervention. OBJECTIVE: To assess preoperative risk factors for death in cardiac valve surgery and construct a simple risk model (score) for in-hospital mortality of patients candidate to surgery at Hospital São Lucas of Pontifícia Universidade Católica do Rio Grande do Sul (HSL-PUCRS). METHODS: The study sample included 1,086 adult patients that underwent cardiac valve surgery between January 1996 and December 2007 at HSL-PUCRS. Logistic regression was used to identify risk and in-hospital mortality factors. The model was developed in 699 patients and its performance was tested in the remaining data (n = 387). The final model was created using the total study sample (n = 1,086). RESULTS: Global mortality was 11.8%: 8.8% of elective cases and 63.8% of emergency cases. At the multivariate analysis, 9 variables remained independent predictors for the outcome: advanced age, surgical priority, female sex, ejection fraction < 45%, concomitant myocardial revascularization (CABG), pulmonary hypertension, NYHA functional class III or IV, creatinine levels (1.5 to 2.49 mg/dl and > 2.5 mg/dl or undergoing dialysis). The area under the ROC curve was 0.83 (95% CI: 0.78-0.86). The risk model showed good capacity for observed/predicted mortality: the Hosmer-Lemeshow test was x(2) = 5.61; p = 0.691 and r = 0.98 (Pearson's coefficient). CONCLUSION: The variables predictive of in-hospital mortality allowed the construction of a simplified risk score for daily practice, which classifies the patient as having low, moderate, high, very high and extremely high preoperative risk.
Assuntos
Doenças das Valvas Cardíacas/mortalidade , Mortalidade Hospitalar , Cuidados Pré-Operatórios/métodos , Adulto , Idoso , Procedimentos Cirúrgicos Eletivos/mortalidade , Emergências , Métodos Epidemiológicos , Feminino , Doenças das Valvas Cardíacas/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Modelos Biológicos , Medição de Risco/métodos , Fatores de RiscoRESUMO
FUNDAMENTO: Estabelecer escore de risco para cirurgias cardíacas permite avaliar risco pré-operatório, informar o paciente e definir cuidados durante a intervenção. OBJETIVO: Pesquisar fatores de risco pré-operatórios para óbito em cirurgia cardíaca valvar e construir um modelo de risco simples (escore) para mortalidade hospitalar para os pacientes candidatos à cirurgia no Hospital São Lucas da Pontifícia Universidade Católica do Rio Grande do Sul (HSL-PUCRS). MÉTODOS: A amostra do estudo inclui 1.086 pacientes adultos que realizaram cirurgia cardíaca valvar entre Janeiro de 1996 a Dezembro de 2007 no HSL-PUCRS. Regressão logística foi usada para identificar fatores de risco e mortalidade hospitalar. O modelo foi desenvolvido em 699 pacientes e seu desempenho foi testado nos dados restantes (n = 387). O modelo final foi criado com a análise da amostra total (n = 1.086). RESULTADOS: A mortalidade global foi 11,8 por cento: 8,8 por cento casos eletivos e 63,8 por cento cirurgia de emergência. Na análise multivariada, 9 variáveis permaneceram preditores independentes para o desfecho: idade avançada, prioridade cirúrgica, sexo feminino, fração de ejeção < 45 por cento, cirurgia de revascularização miocárdica (CRM) concomitante, hipertensão pulmonar, classe funcional III ou IV da NYHA, creatinina (1,5 a 2,49 mg/dl e > 2,5 mg/dl ou diálise). A área sob a curva ROC foi 0,83 (IC: 95 por cento, 0,78 - 0,86). O modelo de risco mostrou boa habilidade para mortalidade observada/prevista: teste Hosmer-Lemeshow foi x² = 5,61; p = 0,691 e r = 0,98 (coeficiente de Pearson). CONCLUSÃO: As variáveis preditoras de mortalidade hospitalar permitiram construir um escore de risco simplificado para a prática diária, que classifica o paciente de baixo, médio, elevado, muito elevado e extremamente elevado risco pré-operatório.
BACKGROUND: To establish a risk score for heart surgery allows the assessment of preoperative risk, informing the patient and defining care during the intervention. OBJECTIVE: To assess preoperative risk factors for death in cardiac valve surgery and construct a simple risk model (score) for in-hospital mortality of patients candidate to surgery at Hospital São Lucas of Pontifícia Universidade Católica do Rio Grande do Sul (HSL-PUCRS). METHODS: The study sample included 1,086 adult patients that underwent cardiac valve surgery between January 1996 and December 2007 at HSL-PUCRS. Logistic regression was used to identify risk and in-hospital mortality factors. The model was developed in 699 patients and its performance was tested in the remaining data (n = 387). The final model was created using the total study sample (n = 1,086). RESULTS: Global mortality was 11.8 percent: 8.8 percent of elective cases and 63.8 percent of emergency cases. At the multivariate analysis, 9 variables remained independent predictors for the outcome: advanced age, surgical priority, female sex, ejection fraction < 45 percent, concomitant myocardial revascularization (CABG), pulmonary hypertension, NYHA functional class III or IV, creatinine levels (1.5 to 2.49 mg/dl and > 2.5 mg/dl or undergoing dialysis). The area under the ROC curve was 0.83 (95 percent CI: 0.78-0.86). The risk model showed good capacity for observed/predicted mortality: the Hosmer-Lemeshow test was x² = 5.61; p = 0.691 and r = 0.98 (Pearson's coefficient). CONCLUSION: The variables predictive of in-hospital mortality allowed the construction of a simplified risk score for daily practice, which classifies the patient as having low, moderate, high, very high and extremely high preoperative risk.
