Patient-reported quality of life in highest-functioning Apert and Crouzon syndromes: a comparative study.

BACKGROUND: Crouzon and Apert syndromes are the most common syndromic forms of craniofacial dysostosis. Apert syndrome has a broad clinical spectrum, including complex craniofacial involvement, as well as limiting deformities of the hands, feet, and other joints that require multiple surgical procedures when compared with Crouzon syndrome, which is generally less severe. The authors hypothesized that the quality of life of Apert syndrome patients is inferior to that of Crouzon syndrome patients. METHODS: The quality of life of Apert (n = 8) and Crouzon (n = 12) syndrome patients was assessed using the World Health Organization Quality of Life-100 questionnaire. The Mann-Whitney test was used to compare the quality-of-life scores between Apert and Crouzon patients. Values were considered significant for a confidence interval of 95 percent (p < 0.05). RESULTS: Apert patients showed an overall higher (score > 60 percent) quality of life in most World Health Organization Quality of Life-100 facets (68 percent) and domains (83.33 percent), with significance (p < 0.05) in three facets (energy and fatigue, mobility, and environment in the home), compared with Crouzon patients. CONCLUSION: Contrary to the authors' initial hypothesis, both the highest-functioning Apert patients and the Crouzon patients presented a satisfactory quality of life, demonstrating that these syndromic patients had acquired the necessary repertoire to manage the adverse daily situations of their lives.

Avaliação de déficit neurossensorial em pacientes com síndromes craniofaciais submetidos a avanço horizontal do mento / Evaluation of neurosensory disturbance in patients with craniofacial syndrome subjected to horizontal chin advancement

INTRODUÇÃO: Embora os distúrbios neurossensoriais após genioplastias tenham sido avaliados em diferentes estudos, não existe uma padronização de como testar e classificar tais alterações. Por essa razão, a incidência de distúrbios neurossensoriais varia de 0 a 100%, dependendo da definição da lesão dos nervos, da sensibilidade do método diagnóstico e do período de seguimento. Portanto, o propósito deste estudo foi avaliar objetivamente o déficit neurossensorial permanente em pacientes submetidos a avanço horizontal do mento. MÉTODO: Foi realizado estudo retrospectivo de todos os pacientes submetidos a avanço horizontal do mento no Hospital SOBRAPAR, no período de 2009 a 2010. A avaliação neurossensorial objetiva do lábio inferior e do mento foi realizada com dois testes neurológicos (teste dos limiares de pressão de Semmes-Weinstein e teste de sensibilidade térmica). O déficit neurossensorial permanente foi definido como testes clínicos anormais com no mínimo 12 meses de pós-operatório. RESULTADOS: Foram avaliados 13 pacientes, sendo 8 deles portadores de síndromes craniofaciais. Houve predomínio de pacientes com os testes de sensibilidade tátil à pressão e térmica (quente e frio) normal (P < 0,05). A análise dos pacientes sindrômicos revelou que a maioria teve o teste de sensibilidade tátil à pressão normal (P < 0,003), não existindo diferenças no teste de sensibilidade térmica (P = 0,317). Não foram identificadas diferenças entre as regiões anatômicas com testes de sensibilidade anormais (P > 0,05). CONCLUSÕES: A maioria dos pacientes apresenta sensibilidade tátil (pressão e temperatura) do lábio inferior e mento preservada 12 meses após terem sido submetidos a avanço horizontal do mento.

BACKGROUND: Although neurosensory disturbances after genioplasty have been evaluated in different studies, standardization for testing and grading of neurosensory injuries is lacking. For this reason, the incidence of neurosensory disturbance varies from 0% to 100%, depending on the definition of nerve damage, the sensitivity of the diagnostic test method, and the follow-up period. Therefore, the aim of this study was to perform an objective evaluation of the permanent neurosensory disturbances in patients who underwent horizontal chin advancement. METHODS:A retrospective study of all patients who underwent horizontal chin advancement at the Hospital SOBRAPAR between 2009 and 2010 was conducted. The objective neurosensory assessment of the lower lip and chin was performed using 2 neurological tests, namely the Semmes-Weinstein pressure and thermal sensitivity tests. Permanent neurosensory disturbance was defined as abnormal clinical test results obtained at least 12 months after surgery. RESULTS: Thirteen patients (8 with craniofacial syndrome) were evaluated. The prevalence of the patients who showed normal results for sensitivity to pressure/touch and thermal sensitivity (warm and cold; P < 0.05) was significantly high. The analysis of the data of the patients with craniofacial syndrome revealed that most of the patients had normal pressure sensitivity test results (P < 0.003). Results from the thermal sensitivity tests showed no significant difference between these patients (P = 0.317). No significant differences were observed between the anatomical regions with abnormal sensitivity test results (P > 0.05). CONCLUSIONS: Tactile sensitivities of the lower lip and chin to pressure and temperature were preserved in most of the patients 12 months after horizontal chin advancement.

Surgical risk for patients with Chagasic achalasia and its correlation with the degree of esophageal dilation.

AIM: To analyze the risk of cardiovascular complications in patients with indication for surgical treatment of Chagasic esophageal achalasia and to correlate the surgical risks with the degree of esophageal dilation, thereby proposing a risk scale index. METHODS: One hundred and twenty-four patients with Chagasic esophageal achalasia, who received surgical treatment at the Hospital das Clinicas of the Federal University of Goias, were included in this study. The patients were mostly related to the postoperative complications due to the cardiovascular system. All the patients were submitted to: (1) clinical history to define the cardiac functional class (New York Heart Association); (2) conventional 12-lead electrocardiogram at rest; and (3) contrast imaging of the esophagus to determine esophageal dilatation according to Rezende's classification of Chagasic megaesophagus. RESULTS: An assessment of the functional classification (FC) of heart failure during the preoperative period determined that 67 patients (54.03%) were assigned functional class I (FC I), 46 patients (37.09%) were assigned functional class II (FC II), and 11 patients (8.87%) were assigned functional class III (FC III). None of the patients were assigned to functional class IV (FC IV). There was a positive correlation between the functional class and the postoperative complications (FC IXFC II: P<0.001; FC IXFC III: P<0.001). The ECG was normal in 44 patients (35.48%) and presented abnormalities in 80 patients (64.52%). There was a significant statistical correlation between abnormal ECG (arrhythmias and primary change in ventricular repolarization) and postoperative complications (P<0.001). With regard to the classification of the Chagasic esophageal achalasia, the following distribution was observed: group II, 53 patients (42.74%); group III, 37 patients (29.83%); and group IV, 34 patients (27.41%). There was a positive correlation between the degree of esophageal dilation and the increase in postoperative complications (grade IIXgrade III achalasia: P<0.001; grade IIXgrade IV achalasia: P<0.001; and grade IIIXgrade IV achalasia: P = 0.017). Analyzing these results and using a multivariate regression analysis associated with the probability decision analysis, a risk scale was proposed as follows: up to 21 points (mild risk); from 22 to 34 points (moderate risk); and more than 34 points (high risk). The scale had 82.4% accuracy for mild risk patients and up to 94.6% for the high risk cases. CONCLUSION: The preoperative evaluation of the cardiovascular system, through a careful anamnesis, an ECG and contrast imaging of the esophagus, makes possible to estimate the surgical risks for Chagas' disease patients who have to undergo surgical treatment for esophageal achalasia.