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Daniel R Gaya

Publications and source records attributed to Daniel R Gaya.

6 recordsLinked to original sources
PubMed2006

New genes in inflammatory bowel disease: lessons for complex diseases?

The chronic inflammatory bowel diseases Crohn's disease and ulcerative colitis are common causes of gastrointestinal disease in northern Europe, affecting as many as one in 250 people. Although mortality is low, morbidity associated with these diseases is substantial. We review the recent advances in the genetics of inflammatory bowel disease, with particular emphasis on the data that have been generated since the discovery of the CARD15 (NOD2) gene in 2001.

ATP Binding Cassette Transporter, Subfamily B, Mem↗
PubMed2005

Bleeding gastric varices and antiphospholipid syndrome.

BACKGROUND: A 35-year-old woman with a past history of antiphospholipid syndrome and near-fatal vascular thrombosis was transferred to Glasgow Royal Infirmary, UK, for investigation of 'obscure' gastrointestinal bleeding in the context of long-term oral anticoagulation therapy. Initial endoscopic examination revealed isolated gastric varices with stigmata of recent hemorrhage. She had no prior history of liver disease or portal hypertension. Investigations to ascertain the cause of her varices were performed. INVESTIGATIONS: CT venography, endoscopic ultrasound and transjugular liver biopsy. DIAGNOSIS: Nodular regenerative hyperplasia of the liver leading to gastric varices. MANAGEMENT: Endoscopic histacryl tissue-glue injection followed by transjugular intrahepatic portosystemic shunt and long-term oral anticoagulation therapy.

Adult↗
PubMed2005

E-cadherin mutation-associated diffuse gastric adenocarcinoma: penetrance and non-penetrance.

According to the published medical literature to date, prophylactic gastrectomy undertaken in the context of carriage of a germline truncating E-cadherin mutation and an appropriate positive family history will lead to the discovery of occult foci of adenocarcinoma in all gastrectomy specimens. We describe the first published case of a patient whose prophylactic gastrectomy in this setting failed to reveal any dysplastic or malignant foci. Furthermore the patient's nephew, who was found to carry an identical E-cadherin mutation on family screening and also underwent prophylactic gastrectomy, was shown to have multi-focal diffuse adenocarcinoma after analysis of the gastrectomy specimen. Both patients were also found to have penetrant genetic haemochromatosis. Within this case, we discuss the clinical manifestations and penetrance of germline E-cadherin mutations and the difficult decisions facing both clinicians and families with this mutation. We also speculate on how these patients' undiagnosed genetic haemochromatosis may have influenced the pathology encountered.

Adenocarcinoma↗