Novel mutations of the APC gene in familial adenomatous polyposis in Greek patients.

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.

Diffuse splenic and visceral hemangiomas complicated by chronic consumption coagulopathy.

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.

Oral manifestations in glycogen storage disease type 1b.

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.

Time trends and seasonal variation in hospital admissions for childhood asthma in the Athens region of Greece: 1978-88.

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.