Role of family history and clinical screening in the identification of families with idiopathic dilated cardiomyopathy in Johannesburg, South Africa

Background. Familial disease is implicated in 20 - 50% of cases of idiopathic dilated cardiomyopathy (IDCM) worldwide. The contribution of familial factors to IDCM in the Johannesburg area, South Africa, is unknown.Objectives. To describe the demographic details of patients with IDCM who presented at Charlotte Maxeke Johannesburg Academic Hospital (CMJAH), and to determine if there is evidence of familial disease through family history assessment and clinical screening of relatives.Methods. This was a single-centre, cohort study performed at a quaternary care centre at CMJAH. Fifty unrelated probands diagnosed with IDCM and available first- and second-degree relatives were included in the study. A three-generation family pedigree was drawn up for all 50 probands. The pedigrees were analysed to identify the presence or absence of familial disease and categorised as positive, intermediate, negative or unreliable according to the family history obtained. From the 50 proband cases, there were 21 family members available for screening for features of IDCM. Eighty-two family members (55 first-degree and 27 second-degree relatives) were screened clinically. Screening included a personal history, full physical examination, electrocardiogram (ECG) and echocardiogram.Results. The mean age at diagnosis of IDCM in the probands was 41.7 (standard deviation (SD) 12.4) years. The majority of probands were males (n=38; 76%). Of 50 pedigrees analysed, 14 (28%) were positive and likely to be indicative of familial dilated cardiomyopathy (DCM), and 9 (18%) patients were at intermediate risk of familial disease. Eighty-two asymptomatic family members were screened, with a median age of 33 (range 11 - 76) years. No asymptomatic family members were identified with features of DCM or presymptomatic DCM. Eleven of the 21 families screened had relatives with possible presymptomatic DCM identified by abnormalities on the echocardiogram in 3 families (14.3%) (4 individuals; all first-degree relatives of the index case) or identified on the basis of a conduction defect (an arrhythmia or first-/ second-/third-degree heart block) in 8 families (72.7%) (11 individuals; 9 first-degree and 2 second-degree relatives).Conclusions. Screening for IDCM should include a three-generation family history and clinical screening of all first-degree family members. As IDCM has an age-related penetrance, at-risk family members should receive follow-up for screening to assess symptoms and signs of IDCM. Genetic testing would potentially identify family members at high risk, who would benefit from screening; this might be a less expensive option

Adenocarcinoma produtor de mucina primário do apêndice: relato de caso e revisäo da literatura / Mucinous adenocarcinoma of appendix: report of case and literature review

Os autores descrevem caso clínico de pacientes com diagnóstico de adenocarcinoma primário de apêncie e revisäo bibliográfica, dando ênfase aos aspectos clínicos, terapêuticos e prognósticos

Schistosoma mansoni: identification of a 46KDa antigen of the schistosomular surface by monoclonal antibody

Um anticorpo monoclonal da subclasse IgG2a, designado C6G9, foi obtido pela imunizacao de camundongos BALB/c com antigenos de ovo de Schistosoma mansoni. Esse anticorpo monoclonal possibilitou a identificacao de um antigeno de peso molecular aproximado de 46 quilodaltons (KDa), cuja expressao foi avaliada atraves da reacao de imunofluorescencia indireta. O referido antigeno persistiu no tegumento do esquistossomulo em desenvolvimento pelo menos ate 96 horas pos-transformacao. O anticorpo monoclonal reagiu tambem com a superficie de cercarias, mas nao com a de vermes adultos. O C6G9, em presenca de complemento, foi tambem capaz de mediar niveis significativos de citoxicidade para esquistossomulos recem-transformados.

Comparison of the lowry and coomassie blue methods for the determination of protein concentration

The Lowry and Coomassie Blue methods were compared for precision when applied to Schistosoma mansoni proteins, using boving serum (BSA) as standard. The absorbance of five different concentrations was measured and the experiments were run in parallel to reduce bias in the comparison. thus, for a given technique all photometric data were obtained from reaction mixtures (BSA and test solutions) prepared and analyzed as simultaneously as possible. To interpret the results, polynomial functions of different degrees-up to the third - were calculated to fit the absorbance values to the respective protein concentrations of BSA or worm protein present in the reaction mixtures, and the standard errors of all slopes were also calculated. The protein concentration of worm extracts was calculeted by two m,ethods: 1) the ratio of the first-degree slopes of the polynomials applied to absorbance = f(x), with x being either mg BSA or ml worm extract, and 2) the utilization of the BSA function parameters to convert any worm absorbance value to protein concentration. The results obtained with the slope ratio were variable. However, the function method seemed to be reliable, especially when applied to Coomassie Blue data. When the results were derived from the BSA cubic function the concentration of soluble worm protein was calculated with a coefficient of variation of 1.20