Disorders associated with abnormal acylcarnitine profile among high risk Egyptian children.

Acylcarnitine profile (ACP) is a useful tool in the biochemical diagnosis and monitoring of many acquired and inherited metabolic disorders. In the present study, acylcarnitines (ACs) were quantified in dried blood spot samples collected from 150 high risk Egyptian newborns and children using LC/MS/MS technique. They were referred to the Biochemical Genetics department in the National Research Center. Their age ranged from 1 to 36 months. Thirty seven patients had abnormal ACP diagnostic of some inherited metabolic disorders and other acquired conditions. The study revealed 5 (13.5%) with medium chain acyl CoA dehydrogenase deficiency (MCADD), 1 (2.7%) with long chain hydroxyacyl CoA dehydrogenase deficiency (LCHADD), 1 (2.7%) with multiple acyl CoA dehydrogenase deficiency (MADD), 28 (75.7%) with secondary carnitine deficiency (SCD), 1 (2.7%) with glutaric aciduria type I (GA I), and 1 (2.7%) with methylmalonic aciduria (MMA) (Tab. 8, Ref. 39).

Epstein-Barr virus, human papillomavirus, and flow cytometric cell cycle kinetics in nasopharyngeal carcinoma and inverted papilloma among Egyptian patients.

It is widely accepted that the Epstein-Barr virus is etiologically associated with the development of nasopharyngeal carcinoma. The human papillomavirus is also associated with inverted papilloma. We used the polymerase chain reaction technique to detect both viruses in both types of tumors. Flow cytometry was also used to study the DNA pattern and proliferative behavior of the tumors in relation to the viruses. EBV was detected in 13/20 (65%) of NPC specimens, and in none of IP (n = 10) or control specimens (n = 10). This indicates the contribution of EBV as an etiologic factor in NPC. Five cases of NPC (25%) were positive for HPV 16, two of them were EBV positive. Four HPV 16 positive cases were found among cases with inverted papilloma, but none among the control cases. Flow cytometry revealed that all NPC, IP, and control samples were diploid except one aneuploid NPC sample. Proliferative capacity (PC) of primary tumors was predictive of tumor recurrence in NPC. Using 13.6% as a cut-off point for PC, we were able to discriminate between high risk and low risk groups with 100% sensitivity and 86% specificity. PC can be used as a baseline prognostic parameter in NPC, making it possible to modify courses of treatment in an attempt to inhibit tumor recurrence.

Circulating intercellular adhesion molecule-1 in endemic chronic liver diseases.

Soluble intercellular adhesion molecule-1(ICAM-1) is probably released from a variety of cells, including leukocytes and endothelial cells at sites of inflammation or in the circulation, and serum levels may therefore be used to give an indication of immune activation and inflammatory processes. In the present study, an ELISA was used to measure serum ICAM-1 levels in forty patients with endemic chronic liver diseases and these were correlated with histological changes in the liver and with liver functions. Serum ICAM-1 levels were significantly higher in patients with chronic active liver diseases than in normal subjects and correlated positively with the grade of histological activity. Furthermore, serum levels of ICAM-1 were substantially greater in patients with cirrhosis than in those without cirrhosis. There was also a significant positive correlation between serum levels of ICAM-1 and serum alanine aminotransferase activities. It is concluded that, in chronic liver disease, intercellular adhesion molecule-1 serum concentration seems to represent hepatocellular damage. The authors suggest that serum ICAM-1 may prove worthy in the investigation, diagnosis and therapeutic monitoring of various inflammatory conditions of the liver.