Cost-benefit analysis of G6PD screening in lebanese newborn males

G6PD deficiency is one of the most prevalent genetic diseases in Lebanon [1% in Lebanese males]. Easy and effective screening methods exist to detect this deficiency early in new-borns. To assess the cost-effectiveness of G6PD deficiency screening in the routine work-up of every male newborn in Lebanon. Of 299 babies with G6PD deficiency detected between 1999 and 2004, 139 [46.5%] were located, contacted, and surveyed for their experience of acute anemia crises. A previous community survey had indicated a 77.8% risk for an acute anemia crisis necessitating hospitalization in unscreened patients, most often associated with consuming fava beans raw or in combination products. In contrast, only 5 [3.8%] of the 139 screened G6PD-deficient babies had ever developed a severe acute anemia crisis. The risk for hospitalization following a crisis had thus been reduced by 95% among patients screened for G6PD deficiency, compared to those unscreened. The estimated mean cost of each hospitalization, which lasts on average 7 days, is 1450 USD. The cost of screening is about 3 USD. The analysis indicates that, given the current prevalence of the deficiency and the reduction in hospitalization rates associated with knowing one's status, the cost of systematic screening is about 2.58 times lower than that of anemia-related hospi-talizations in an unscreened population. The efficiency of routinely testing evidenced here supports changes in screening policies for boys

maladie de von Hippel-Lindau: stude moleculaire de deux familles Libanaises et analyse de la correlation genotype-phenotype

The von Hippel-Lindau syndrome [VHL] is a dominantly transmitted hereditary disorder associating multisystemic tumors affecting mainly the central nervous system, the kidneys, the pancreas, as well as pheochromocytomas. Mutations of the tumor suppressor gene VHL on chromosome 3 are responsible for the disease. This article reports for the first time the study of two Lebanese VHL affected families, presenting particularly hemangioblastomas of the central nervous system. Two different mutations of the VHL gene, S65W and F76S, respectively identified in the two families, confirmed the clinical diagnosis of the patients. Molecular diagnosis was then performed for at risk members of these families. This article reveals the importance of molecular diagnosis for suspected patients and of presymptomatic diagnosis for at risk members, especially that a close follow-up of carriers allows an early detection of tumors and prevents the metastasis stage, the most common cause of death of these patients

Le bebe arlequin

Harlequin foetus is a rare clinical entity and consists in the most severe form of congenital ichthyosis. Here below, we report on a new case of harlequin baby born from consanguineous first cousin parents. The underlying molecular basis of harlequin ichthyosis is still not definitely determined. Surviving of few cases is due essentially to the use of a synthetic vitamin A acid. The benefit of that treatment is still questionable