A report of three patients with MMP2 associated hereditary osteolysis.

Osteolysis syndromes are rare hereditary disorders characterized by destruction and resorption of affected bones. The current study adds three new patients from two unrelated consanguineous families with a severe form of inherited osteolysis. Clinical examination, radiological, biochemical, ultrastructural and molecular studies were conducted. Clinical and radiological studies suggested the diagnosis of Torg-Winchester syndrome. The three affected patients were homozygous for novel MMP2 gene mutations which confirmed the diagnosis. Our patients are the first to be reported from Egypt thus, supporting the pan ethnic nature of the disease.

The most encountered groups of genetic disorders in Giza Governorate, Egypt.

This study presents the prevalence, relative frequency, and analysis of genetic diseases/malformations in 73260 individuals. Cases included were ascertained from: Pediatric outpatient clinics of two governmental hospitals and two primary health care centers (PHCCs) in Giza Governorate; Neonatal intensive care unit (NICU) in the selected hospitals and Outpatients Human Genetics Clinics (NRC). 62819 persons visited the outpatients clinics of selected hospitals and PHCCs in Giza governorate. Out of these persons 731 cases (1.16%) proved to have known genetic disorders or malformations. 7755 neonates were delivered in the selected hospitals. Out of these neonates 666 newborns entered NICU and 3% (20 neonates) of them had genetic or congenital disorders. Also, 2686 patients were ascertained from the Human Genetics Clinics, NRC. The overall parental consanguinity rate among the 3417 diagnosed cases was 55%, ranging from 29.5-75%. The study showed a high prevalence of genetic/malformation disorders among Egyptians, with frequencies comparable to other Arab populations (Tab. 4, Ref. 25). Full Text (Free, PDF) www.bmj.sk.

The prevalence of obsessive compulsive symptoms in a sample of Egyptian psychiatric patients.

Obsessions can occur in many psychiatric disorders or they may constitute the entire illness, which is then referred to as an obsessional state (Rees, 1993). The relationship of obsessive compulsive symptoms (OCS) to different psychiatric disorders is still controversial. This work was undertaken to study the co-occurrence and phenomenology of OCS with other psychiatric disorders. We examined a sample of 372 psychiatric outpatients using the arabic version of Yale Brown obsessive-compulsive symptom (Y-BOCS) checklist and compared them with a control group composed of 308 non-psychiatric subjects. Subjects were additionally assessed by means of the obsession symptom section of the PSE (10th) edition for trait rating, the arabic version of the Eysenck rigidity scale and the arabic version of the religious orientation scale. OCS were found to be significantly higher in the different psychiatric categories than in the non-psychiatric categories; 83% of patients with neurotic, stress related and somatoform disorders, 51% of patients with mood disorders and 47% of patients with schizophrenia, schizotypal and delusional disorders were found to have OCS in their symptomatology. Furthermore, the data suggest that OCS in psychiatric patients have a distinct phenomenology from that in non-psychiatric subjects. The results did not however reveal a relationship between OCS and either rigidity or religious orientation.

The value of elevated second-trimester beta-human chorionic gonadotropin in predicting development of preeclampsia.

OBJECTIVE: Our purpose was to investigate the association of an elevated second-trimester serum beta-human chorionic gonadotropin concentration with the subsequent development of hypertension in pregnancy and to evaluate its utility as a screening test for preeclampsia. STUDY DESIGN: We examined 6286 nondiabetic women with singleton pregnancies who, as part of triple-screen testing, had a serum beta human chorionic gonadotropin level drawn between 15 and 22 weeks' gestation between November 1, 1991, and November 30, 1994. Medical records of women with hypertension (n = 675) were reviewed, patients with chronic hypertension were excluded, and the remainder were classified as having gestational hypertension (n = 333), mild preeclampsia (n = 110), or severe preeclampsia (n = 84). The beta-human chorionic gonadotropin level expressed as multiples of the median adjusted for maternal weight and gestational age was compared between normotensive and hypertensive complicated pregnancies. RESULTS: In the overall population beta-human chorionic gonadotropin levels > or = 2.0 multiples of the median during the second trimester were significantly associated with development of hypertension in pregnancy. The rate ratio for development of overall hypertension was 1.6 (95% confidence interval 1.3 to 2.0) and for preeclampsia 1.8 (95% confidence interval 1.3 to 2.6). When stratified by parity, a statistically significant association remained only among multiparous women, for overall hypertension (rate ratio 2.2, 95% confidence interval 1.6 to 3.2) and for preeclampsia (rate ratio 3.4, 95% confidence interval 2.1 to 5.6). Adjusting for confounding factors did not alter the results. In the overall population, with the use of 2.0 multiples of the median of beta-human chorionic gonadotropin as a cutoff value, the sensitivity of beta-human chorionic gonadotropin as a screen for development of hypertension was 15.6%, the specificity was 90.0%, and the positive predictive value was 12.8%. CONCLUSION: Overall, second-trimester serum beta-human chorionic gonadotropin levels were elevated among women who had hypertension during pregnancy. In our population this association was statistically significant only among multiparous women. The utility of an elevated second-trimester beta-human chorionic gonadotropin level as a screening test for preeclampsia is limited.