RESUMO
Meckel Gruber syndrome is an uncommon, lethal, autosomal recessive disorder, associated consistently with polycystic kidneys, posterior encephalocoele and polydactly. We report three cases in non-consanguineous marriages, suggesting that the single gene defect occurs more commonly in non-consanguineous marriages than mutant genes associated with other autosomal recessive disorders that are usually related with consanguineous marriages. The usefulness of prenatal diagnosis is discussed.
Assuntos
Anormalidades Múltiplas/genética , Consanguinidade , Encefalocele/genética , Feminino , Morte Fetal/genética , Humanos , Recém-Nascido , Masculino , Doenças Renais Policísticas/genética , Polidactilia/genética , SíndromeAssuntos
Causas de Morte , Criança , Atestado de Óbito , Humanos , Prontuários Médicos/normas , Sri LankaAssuntos
Acetaminofen/intoxicação , Criança , Evolução Fatal , Humanos , Falência Hepática/etiologia , Masculino , Overdose de DrogasRESUMO
OBJECTIVE: To determine the clinicopathological features of colorectal malignancies in Sri Lankan patients aged 40 years or younger, and to compare them with those of older patients. METHODS: The clinicopathological features of 60 colorectal malignancies which occurred in patients aged 40 years or younger were compared with 245 malignant colorectal tumours in older patients. These tumours had been diagnosed at a University Department of Pathology over 15 years. RESULTS: 19.7% of colorectal malignancies occurred in patients aged 40 years or younger. (Male:Female ratio = 1.6:1). The mean duration from onset of symptoms to diagnosis was 4.2 months. There was no statistically significant difference between young and old patients in the presenting symptoms, site of tumour and Dukes' staging of colorectal malignancies. A statistically significant proportion of tumours in young patients was mucoid (13.3%) or signet ring cell (5%) type. 3.3% of young patients with colorectal carcinoma gave a family history of similar malignancy. A history of predisposing conditions (ulcerative colitis) was present in 3.3% of young patients. CONCLUSIONS: The clinical presentation of colorectal malignancies in Sri Lankan patients below 40 years of age does not differ from that in older patients. Mucoid and signet ring cell carcinomas are commoner in the young.
Assuntos
Adulto , Distribuição por Idade , Idade de Início , Idoso , Carcinoma/diagnóstico , Neoplasias Colorretais/diagnóstico , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Probabilidade , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Distribuição por Sexo , Sri Lanka/epidemiologiaRESUMO
We report three patients with ambiguous genitalia and 46 XX karyotype who had intra-abdominal testes. The mechanism for the development of testes in such patients, the risk of malignancy and value of histological assessment of intra-abdominal testes are discussed.
Assuntos
Adolescente , Criança , Feminino , Genitália Feminina/anormalidades , Humanos , Cariotipagem , Masculino , Transtornos do Desenvolvimento Sexual/diagnóstico , Testículo/anormalidadesRESUMO
Extensive intraduct component (EIC) in invasive duct carcinoma is one of the main factors affecting local cancer recurrence and thereby a major consideration in breast conserving therapy. A retrospective study was undertaken to assess the prevalence of extensive intraductal component in a South Asian setting. 105 cases of invasive duct carcinoma reported at a University Pathology Department during a 75 month period from January 1992, were reviewed. 48.6 percent of all cases assessed had an intraductal component. 13.3 percent had an EIC. Of the seventy-two T1 and T2 tumours reviewed 5.6 percent showed EIC. The results of this study indicate that by virtue of its low prevalence. EIC in infiltrating ductal cancer is unlikely to be a major obstacle in the decision of breast conserving therapy in the South Asian region.