Sudden cardiac death and valvular pathology.

Sudden death due to valvular heart disease is reported to range from 1% to 5% in native valves and around 0.2%-0.9%/year in prosthesis. The nature of the diseases is varied, from heritable, congenital to acquired. It may affect both genders in multiple age groups. The authors show and comment examples of the major nosologic aetiologies underlying unexpected exitus letalis of valvular nature.

Sensibilidade bacteriana a antimicrobianos, usados na prática médica - Ribeiräo Preto-SP - 1994 / Bacterial susceptibility to antimicrobial drugs used in medical practice - Ribeiräo Preto-SP - 1994

Apresenta-se a situaçäo da susceptibilidade bacteriana a antimicrobianos, em amostras isoladas em 1994, no Hospital das Clínicas da Faculdade de Medicina de Ribeiräo Preto-USP. A resistência do Staphylococcus aureus à oxacilina foi verificada em 17 por cento das amostras de infecçöes da comunidade, e em 51 por cento dos casos hospitalares. Os valores correspondentes para o Staphylococcus epidermidis foram, respectivamente, 19 por cento e 29 por cento. A resistência in vitro à penicilina foi observada em 7 por cento das amostras de pneumococo, e em 20 por cento das amostras de enterococo. Com exceçäo de poucas amostras, todos os cocos Gram-positivos eram sensíveis à vancomicina e teicoplanina. Com relaçäo aos bacilos Gram-negativos, a sensibilidade in vitro das enterobactérias foi baixa para a ampicilina, carbenicilina e cotrimoxazole (26 a 53 por cento), intermediária para cefalotina, cloranfenicol e cefoxitina (64 a 82 por cento) e alta para as cefalosporinas de terceira geraçäo, amicacina, fluoroquinolonas, aztreonam e imipenem (93 a 99 por cento). Acima de 90 por cento das amostras de Pseudomonas aeruginosa foram sensíveis à cefatazidina, aztreonam e imipenem. O Acinetobacter calcoaceticus, causa freqüente de infecçäo hospitalar, mostrou alta sensibilidade (98 por cento) ao imipenem, porém resistência acentuada a outros antiinfecciosos. Conclui-se comentando sobre a escolha de antimicrobianos para o tratamento de infecçöes comunitárias e hospitalares.

Analysis of the essential sequences of the factor VIII gene in twelve haemophilia A patients by single-stranded conformation polymorphism.

We report the analysis by single-stranded conformation polymorphism of the essential sequences of the factor VIII(FVIII) gene (total length about 14 kb) including the entire coding sequence, flanking intronic sequences and the putative regulatory sequences 5' to the gene, in twelve unselected haemophilia A patients of Portuguese origin. Direct sequencing of the fragments with an altered migration pattern led to the identification of the disease-producing mutations in five patients. Three of these mutations, namely a 1 bp insertion in a motif of eight consecutive A residues at codon 1439 (FVIIIPorto3); a C to T transition at codon 1966 (Arg-->Stop), found in an inhibitor-positive patient (FVIIIMontijo); and a G to A transition at codon 479 (Gly-->Arg; FVIIIPorto1), have been reported in other ethnic groups. The two novel mutations are the substitution of AG by GG at the 3' end of intron 4 (FVIIILisboa1) destroying the invariant splice acceptor sequence, and a G to A transition at codon 1948 resulting in an aspartic acid substitution for glycine (FVIIIPorto2).

Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B.

In the present study, we report the application of polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis to the screening of seven functionally important factor IX gene (FIX) regions (total length 2.66 kb) in 9 unrelated haemophilia B patients of Portuguese or African origin. In eight of the patients an altered migration pattern of single-stranded DNA was observed. Direct sequencing of the relevant DNA fragments unveiled the following sequence alterations: two novel mutations, namely FIXBarcelos Thr-380-Pro and FIXLousada 9bp insertion at position 31,309 or 31,318; five mutations previously reported in other ethnic groups (FIXPorto Arg-145-His, FIXLuanda Gly-207-Arg, FIXPenafiel Arg-248-Gln, FIXSesimbra Arg-333-Gln, FIXCascais Arg-333-Stop); and a normal variant, G-->T transvertion at position 6,596 in intron 2. We propose hypothetical models for the generation of the 9 bp duplication (FIXLousada). We have performed molecular modeling studies in order to predict the structure of the variant FIX molecules.