Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients.

Objective: Budd-Chiari syndrome is a multifactorial disease in which several prothrombotic disorders may predispose patients to the development of thrombosis at this uncommon location (hepatic veins). The aim of this study was to determine the prevalence and characteristics of inherited thrombophilia in Egyptian Budd-Chiari syndrome patients.

Methods: The study included 47 Budd-Chiari syndrome patients (20 children and 27 adults).

Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

Background: In Egypt, Wilson disease seems to be under diagnosed and clinical data on large cohorts are limited. The aim of this study is to highlight the clinical, laboratory and genetic characteristics of this disease in our pediatric population as well as to report our experience with both treatment options and outcome.

Methods: The study included 77 patients from 50 unrelated families (62 were followed up for a mean period of 58.

Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis.

Background: Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary retinopathy, cataract, and sensorineural hearing loss. To the best of our knowledge, cholestatic liver disease was not previously reported in these patients.

Aim: To highlight the presence of cholestasis and liver dysfunction in this group of patients and to suggest modified criteria for clinical diagnosis.

Cytogenetic aberrations and the development of uterine leiomyomata.

This study was conducted to define the cytogenetically critical regions of uterine leiomyomata, hoping to demonstrate the presence of possible genes involved in their evolution. It was carried out on 25 randomly selected uterine leiomyoma specimens obtained from 16 patients during hysterectomy or myomectomy operations. Successful tissue culture and karyotyping were performed in 19 specimens.