RESUMEN
Familial adenomatous polyposis (FAP), a premalignant clinical entity inherited as an autosomal dominant trait, is characterized by the development thousands of adenomatous polyps of the colorectum during the 2nd and 3rd decade of life. Approximately 80% of patients with FAP harbor truncating germline mutations in the adenomatous polyposis coli (APC) tumor suppressor gene. We tested 24 members of six Greek families. All patients had the FAP phenotype, and one patient had an extracolonic tumor (medulloblastoma). Our method for testing was the polymerase chain reaction (PCR) amplification from genomic DNA extracted from whole blood, followed by automated DNA sequencing. Two novel truncating mutations (2601delGA and R923X) and three already-known mutations (R876X, Q1045X, and D1822V) were found. Other polymorphisms were also found. We identified the inactivating APC mutation in 12 of 13 of our FAP patients. Our results suggest that PCR sequencing is a reliable method for screening the APC gene for germline mutations.
Asunto(s)
Proteína de la Poliposis Adenomatosa del Colon/genética , Poliposis Adenomatosa del Colon/genética , Mutación/genética , Secuencia de Bases , Análisis Mutacional de ADN , Femenino , Grecia , Humanos , Masculino , Linaje , Polimorfismo Genético/genéticaRESUMEN
The case of a 7-year-old girl with a 2 year history of easy bruising associated with thrombocytopenia is reported. On admission she presented with ecchymoses, abdominal distention and splenomegaly. Hemostasis investigation revealed a consumption coagulopathy. Several radiological studies failed to confirm the diagnosis of diffuse splenic and visceral hemangiomatosis, which was eventually established by an explorative laparotomy. Platelet count and the other coagulation abnormalities progressively returned to normal after splenectomy, although the remaining hemangiomas were extensive.
Asunto(s)
Neoplasias Abdominales/complicaciones , Coagulación Intravascular Diseminada/etiología , Hemangioma Cavernoso/complicaciones , Neoplasias del Bazo/complicaciones , Neoplasias Abdominales/congénito , Niño , Enfermedad Crónica , Femenino , Hemangioma Cavernoso/congénito , Humanos , Neoplasias del Bazo/congénitoRESUMEN
Glycogen storage disease type 1b is a rare metabolic disorder which affects the transport system of glucose-6-phosphatase metabolism. As a result, hepatomegaly, failure to thrive, renal dysfunction and recurrent infections occur in affected patients. In this paper, the oral complications in three children with glycogen storage disease type 1b are discussed. Oral ulcers were a common finding, probably due to severe neutropenia and impaired neutrophil migration which characterises the onset of this rare disorder.
Asunto(s)
Enfermedad del Almacenamiento de Glucógeno Tipo I/patología , Enfermedades de la Boca/patología , Preescolar , Femenino , Enfermedades de las Encías/patología , Glositis Migratoria Benigna/patología , Hepatomegalia/patología , Humanos , Recién Nacido , Enfermedades de los Labios/patología , Masculino , Hueso Paladar/patología , Úlcera/patologíaRESUMEN
BACKGROUND: The aim of the study was to determine the trend and seasonal variation in hospital admissions for childhood asthma in the Athens region of Greece. METHODS: Data were obtained from hospital registries of the three main children's hospitals in Athens between 1978 and 1988. Children admitted with the diagnosis of asthma, asthmatic bronchitis, or wheezy bronchitis were included. The data were expressed as admission rates per 100,000 of the same aged population. RESULTS: There were 9795 admissions for asthma over the 11 years and the admission rate rose by 294%. Admissions among those aged 0-4 and 5-14 rose by 272% and 379% respectively. Monthly admissions showed a pronounced seasonal variation, rising during the cold damp period in the 0-4 age group, but peaking around May in the 5-14 age group. CONCLUSIONS: These findings suggest that hospital admissions due to asthma in the Athens region have increased considerably since 1978, and that clear cut seasonal variations exist which are specific to age.