RESUMO
Three elderly sisters with profound mental retardation in association with the clinical features of microcephaly, short stature, brachydactyly type D, flattened occiput, down-slanting palpebral fissures, low-set large ears, broad prominent nose and kyphoscoliosis have been investigated. Each was more than 60 years of age and their clinical features were strikingly similar. The disorder has several manifestations in common with Rubenstein-Taybi syndrome and appears to be inherited as an autosomal recessive in this family.
Assuntos
Anormalidades Múltiplas/classificação , Deformidades Congênitas do Pé/classificação , Deformidades Congênitas da Mão/classificação , Deficiência Intelectual/classificação , Microcefalia/classificação , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Idoso , Feminino , Deformidades Congênitas do Pé/genética , Deformidades Congênitas do Pé/patologia , Genes Recessivos , Deformidades Congênitas da Mão/genética , Deformidades Congênitas da Mão/patologia , Humanos , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Microcefalia/genética , Microcefalia/patologia , Pessoa de Meia-Idade , Linhagem , SíndromeRESUMO
The lipid profiles of 104 volunteer senior South African Transport Service (SATS) personnel showed that all volunteers had some lipid abnormality, which increased their risk for coronary heart disease. All participants received a single counselling interview with a nursing sister on a lipid-lowering lifestyle. Retesting after 3-4 months of 91 participants revealed that this group had lowered their mean total serum cholesterol value significantly. Twenty-one per cent of the participants had normalised their lipid profiles and the prevalence of hypercholesterolaemia, defined in a number of ways, was reduced, as was the number of possible familial hypercholesterolaemic patients, by 60%. Participants who complied with the dietary recommendations strictly reduced their cholesterol levels significantly, while those who did not were less successful in lowering their serum cholesterol levels. Screening and a single intervention counselling interview improved the coronary risk factor profile of this group of senior SATS personnel.
Assuntos
Hipercolesterolemia/dietoterapia , Adulto , Glicemia/análise , Colesterol/sangue , HDL-Colesterol/sangue , Humanos , Hipercolesterolemia/sangue , Masculino , Pessoa de Meia-Idade , Cooperação do Paciente , Fatores de Risco , Triglicerídeos/sangueRESUMO
The incidence of cleft lip and palate in the Western Cape was studied using data from two cleft palate centres and from all plastic surgeons in practice in the area. A high incidence was found among coloureds, while the incidences among whites and blacks were similar to figures reported from other countries.
