Prevalência de Obstrução numa População Exposta ao Fumo do Tabaco - Projecto PNEUMOBIL

A espirometria não atingiu ainda a divulgação que se justificaria em patologia respiratória, ou indivíduos que se encontram em risco relativamente a esta patologia, cujo diagnóstico é insuficiente, havendo um escasso conhecimento, e consequente controlo, dos custos atribuíveis a estas doenças, com destaque para a doença pulmonar obstrutiva crónica (DPOC). O PNEUMOBIL, iniciativa que visa esta divulgação entre fumadores e ex -fumadores, foi reactivado, após 10 anos de aplicação em Portugal, revelando agora, numa amostra de 5324 indivíduos, em que cerca de 50% ainda mantêm os hábitos tabágicos, sejam do sexo masculino ou feminino, que houve uma elevada prevalência de obstrução detectada por espirometria (30% e 25%, respectivamente) nas pessoas rastreadas perto de centros de saúde (grupo público) e em empresas (grupo privado). Este risco não se explica em regra por exposição ocupacional, nem se relaciona com a maioria dos sintomas respiratórios, muito frequentes nos rastreados. Apenas a dispneia (OR=1,28; p=0,02) e os episódios frequentes de expectoração (OR=1,21; p=0,008) ou de bronquite aguda (OR=1,31; p=0,05) revelam alguma relação com a obstrução. O reconhecimento prévio da DPOC é muito reduzido e a presença de obstrução não se correlaciona (p=0,204) com o assumir da condição de portador.

Tranexamic Acid for Major Spinal Surgery in Children. A Retrospective Study

Introduction: Paediatric patients who undergo posterior spinal fusion surgery to correct scoliosis often require multiple blood transfusions. Tranexamic acid is a synthetic antifibrinolytic drug that reduces transfusion requirements in scoliosis surgery (1),(2),(3). Methods: To evaluate the efficacy of prophylactic tranexamic acid (TA) (initial dose of 10mg/kg and infusion of 1mg.kg(-1).h(-1)) in reducing perioperative blood transfusion requirements, we reviewed patients files and compared the amount of blood lost and blood transfused in the perioperative period of 12 patients (54.5%) that received TA and 10 patients (45.5%) who did not received TA. T-Student test was applied. Results: The average difference of blood losses (2,67 +/- 6,06ml) and blood transfused (212,9 +/- 101,1ml) between the two groups was not statistically significant (p>0.05). No thrombotic complications were detected in either group. Discussion: Results of the current study showed that prophylactic low dose of TA did not have a significant effect in the management of intraoperative blood loss and transfusion requirements in children undergoing scoliosis surgery. It is important to emphasize that our study is retrospective and that the size of the sample is small. Further studies are needed to evaluate the efficacy and safety of TA on paediatric scoliosis surgery.

Spectrum and Frequency of GJB2 Mutations in a Cohort of 264 Portuguese Nonsyndromic Sensorineural Hearing Loss Patients

OBJECTIVE: To assess the spectrum and prevalence of mutations in the GJB2 gene in Portuguese nonsyndromic sensorineural hearing loss (NSSHL) patients. DESIGN: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. STUDY SAMPLE: A cohort of 264 Portuguese NSSHL patients. RESULTS: At least one out of 21 different GJB2 variants was identified in 80 (30.2%) of the 264 patients analysed. Two mutant alleles were found in 53 (20%) of these probands, of which 83% (44/53) harboured at least one c.35delG allele. Twenty-seven (10.2%) of the probands harboured only one mutant allele. Subsequent analysis revealed that the GJB6 deletion del(GJB6-D13S1854) was present in at least 7.4% (2/27) of the patients carrying only one mutant GJB2 allele. Overall, one in five (55/264) of the patients were diagnosed as having DFNB1-related NSSHL, of which the vast majority (53/55) harboured only GJB2 mutations. CONCLUSIONS: This study provides clear demonstration that mutations in the GJB2 gene are an important cause of NSSHL in Portugal, thus representing a valuable indicator as regards therapeutical and rehabilitation options, as well as genetic counseling of these patients and their families.