Genotyping of intron 22-related rearrangements of F8 by inverse-shifting PCR in Egyptian hemophilia A patients.

Hemophilia A (HA) is the most common severe bleeding disorder in humans, affecting one in 5,000 male births. In severe HA, intron 22 inversion of F8 is the most prevalent mutation, accounting for 40-50% of all mutations; however, little is known about the disease-causing mutations among Egyptian hemophiliacs. We aimed at genotyping all possible known DNA rearrangements of intron 22 of F8 in Egyptian HA patients. Peripheral blood samples were collected from 30 Egyptian HA patients (13 severe, ten moderate, and seven mild cases). Genotyping of F8 intron 22 rearrangements was performed by inverse-shifting PCR (IS-PCR). Our study revealed that seven patients (23.3%) had inversion 22, three patients (10%) had deletion 22, and 20 patients (66.7%) carried the wild-type allele. No intron 22 duplication was detected. The relative proportion of inversion 22-type 1 to inversion 22-type 2 was 85.7% and 14.3%, respectively, whereas the relative proportion of deletion 22-type 1 to deletion 22-type 2 was 33.3% and 66.7%, respectively. A statistically highly significant relation was found between disease severity and F8 intron 22 rearrangements (p = 0.008). Among severe cases, 46.1% had inversion 22, 23.1% had deletion 22, and 30.8% carried the wild-type allele. We conclude that F8 intron 22 inversion/deletion is responsible for about one third of disease-causing mutations among Egyptian hemophiliacs and for nearly 70% in severe cases. In addition, F8 intron 22 inversion/deletion by IS-PCR has proven to be a rapid and robust technique and might be the recommended tool for genetic analysis of HA patients specially with severe cases in developing countries.

Perioperative acute phase response and outcome of hepatic resection, an experimental study.

Identification of patients at risk of postoperative complications could have an impact on the indications for a procedure as well as permitting modifications of treatment to reduce the surgical risk. This experimental study evaluated the correlation between peri-operative acute phase response and outcome of hepatic resection. The study was conducted on sixty healthy golden hamsters, which underwent partial hepatectomy. They were arranged in 3 groups (20 per each). One day prior to resection, fracture of the left hind leg was done in group I (G I) & wound infection had been created in group II (GII); while nothing done in group III (GIII) that acted as a control. Blood samples to estimate SGPT and serum albumin (as basic investigations for hamsters liver function) and serum IL-6 and CRP (as acute phase reactants) were taken preoperatively, immediately after resection and for the consecutive 3 days post operatively. The mean serum level of both acute phase reactants increased in GI and GII preoperatively and continues to rise immediately after resection. Post-operatively; among the three groups, the mean serum level of both reactants was higher in GI than in GII that was in turn higher than in GIII except when the postoperative complications were more severe than the other group, then this relation changed.