novel splice-site allelic variant is responsible for wilson disease in an Omani family

The objective of this study was to characterise Wilson's Disease [WD] [OMIM 277900] genetically and test for allelic variants in the copper transport gene [ATPase, Cu[++] transporting, beta polypeptide, ATP7B] responsible for the disease in an Omani family. Three index patients from an Omani family had been previously diagnosed with WD. All three patients suffered neurological symptoms and signs. Forty-six relatives in the family were screened for WD. Eleven more individuals were positive, but asymptomatic. Thirteen non-disease-causing allelic gene variants, described previously, were identified in the ATP7B gene from 46 family members. A putative novel disease-causing splice-site variant [c.2866-2A>G], which has not been reported previously, was detected in this family. It is located upstream of exon 13 which encodes part of transmembrane copper channel [Ch/Tm6]. Reverse transcription polymerase chain reaction was used to amplify a complementary DNA [cDNA] fragment containing exons 12, 13 and 14. Exon 13 was entirely skipped from the transcript which probably would result in a defective ATP7B protein. A new ATP7B splice-site allelic variant, found among the 14 WD patients segregated with the disease in a recessive manner, suggests it is a disease-causing variant

Comparison between helicobacter pylori fecal antigen detection and endoscopic gastric biopsy in diagnosis of H. Pylori infection in 50 adult cases

Objective: To compare the effectiveness of fecal antigen detection test with gastric biopsy via upper GI endoscopy for H pylori

Design: Comparative, observational, non- randomized

Place and Duration of Study: Sultan Qaboos University Hospital, Oman. February 2005 - February 2006

Patients and Methods: Fifty patients with epigastric pain and heart burn were subjected to upper GI endoscopy and gastric biopsy for H. pylori and at the same time stool was sent for fecal antigen detection for H. pylori

Results: Out of 30 females, 12 had biopsy proven H. pylori while 5 had positive fecal antigen test. In 20 male patients, 15 had positive biopsy while 12 had fecal antigen proven H. pylori

Conclusion: This study doesn't prove the effectiveness of fecal antigen detection test in comparison with upper GI endoscopy and biopsy, which is the gold standard test for H. pylori. Hence we cannot recommend the test to replace upper GI endoscopy and biopsy despite of the low cost and less trouble to the patient