Objective: The aim of this study was to throw light on the incidence of pre-eclampsia (PE) in women attending for care and delivery at a hospital in Saudi Arabia, and analyze the maternal risk factors and outcome of mothers and neonates in pregnancies complicated by PE. Methods: This retrospective study involved almost all women (n = 27,787) who delivered at King Fahad Hospital of the University in a 10-year period (1992–2001). The maternal records were reviewed for age, parity, gestational age, mode of delivery, antenatal care, onset of PE, severity of proteinuria, and the frequency of antenatal and intrapartum complications. The neonatal records were reviewed for perinatal outcome including birth weight, frequency of stillbirths, and neonatal deaths. Results: Among the study cohort of maternities, 685 women, i.e. 2.47%, were diagnosed as having PE among whom a high proportion (42.0%) were nulliparous women. Similarly, PE was encountered at a high percentage (40.0%) in women at the extreme of their reproductive age (< 20 and >40 years), and more women with PE delivered prematurely (30.2%) as compared to healthy controls (13.5%). Spontaneous vaginal deliveries were less frequent in women with PE (69.2%) as compared with healthy controls (86.2%). Instrumental deliveries, with spontaneous labor, amounted to 15.9% in women with PE, but they comprised only 2.9% in healthy women. The deliveries were more likely to be induced (22.8%) or be performed by cesarean section (14.9%) in women with PE than in healthy controls (6.8% and 9.6%). Placental abruption was the most common maternal complication (12.6%) in women with PE, followed by oligouria (7.9%), coagulopathy (6.0%), and renal failure (4.1%). The perinatal outcome of maternities with PE shows that stillbirths (2.34%) and early neonatal deaths (1.02%) comprised an overall mortality rate of 33.6 per 1,000. More stillbirths and neonatal deaths showed a tendency to be associated with the severe form of PE (diastolic BP ≧120), as compared with the mild form (diastolic BP 90–110). Stillbirths and neonatal deaths appear to be associated with women who had no or irregular antenatal care and whose proteinuria amounted to or exceeded 3 g per 24 h, when delivery occurred at 28th gestational week or less, and when the birth-weight of the neonates was between 500 and 1,000 g. Conclusion: We document a hospital-based incidence rate of PE of 2.47%, with a high proportion of PE cases occurring among nulliparous women and those at the extreme ends of the reproductive age. More maternal and neonatal complications were encountered in women with PE when the PE was severe, when the pregnancy had to be terminated early, when there was no regular antenatal care, the birth-weight was low, or the proteinuria was severe.

Hereditary hemorrhagic telangiectasia (HHT), or Osler-Rendu-Weber syndrome, is a heterogeneous inherited disorder characterized by multi-systemic vascular dysplasia and wide variation in its phenotypic expression. Hepatic manifestation is seen in about 8 to 30 % of the patients. The molecular basis for liver involvement is unknown. We screened the two known HHT disease loci, the ALK1 (ACVRL1) and ENG genes, for mutations in a clinically well-characterized group of HHT patients with or without liver involvement. Mutations in the ALK1 gene were detected in eight out of 10 HHT patients with hepatic manifestation. Among nine HHT patients without liver involvement, four had mutations in the ALK1, and three in the ENG genes, respectively. In one patient with hepatic manifestation a mutation was detected in both the ALK1 and ENG genes. No mutation could be detected in two patients with liver involvement and, likewise, in two patients without hepatic manifestation. In this study, we have identified five novel ALK1 and one ENG disease-causing mutations. We conclude that hepatic manifestation in HHT patients is associated with mutations in the ALK1 gene, but rarely with ENG mutations. © 2005 Wiley-Liss, Inc.KEY WORDS: HHT; Osler-Rendu-Weber syndrome; ALK1; ACVRL1; ENG INTRODUCTIONOsler-Rendu-Weber syndrome or hereditary hemorrhagic telangiectasia (HHT, MIM# 187300 and 600376) is an autosomal dominat disease with age-dependent penetrance and variable expression of the clinical manifestation. The estimated prevalence is in the order of 1 out of 10,000 (Guttmacher et al., 1995). According to the Curaçao DOI: 10.1002/humu.9311 2 Kuehl et al.criteria , the clinical diagnosis of HHT requires that at least three out of four conditions, i.e. epistaxis, telangiectasia, visceral lesions, and a family history with HHT, should be present in order to ensure the diagnosis. While the cutaneous and mucocutaneous manifestations have mostly a relative good prognosis, the involvement of the visceral organs, if untreated, can trigger mortality (Kjeldsen et al., 1999;Shovlin and Letarte, 1999).Hepatic manifestation of HHT is estimated to affect about 8 to 30% of the patients (Reilly and Nostrant, 1984;Bauer et al., 1995;Kjeldsen et al., 1999). The hepatic vascular malformation can be diagnosed by ultrasound (Caselitz et al., 2003) and is mostly associated with fibrosis and/or atypical cirrhosis (Reilly and Nostrant, 1984). In severe cases, the reduced liver function associated with HHT may lead to progressive hepatic failure (Weik and Greiner 1999).Little is known about the genetic basis of the observed clinical heterogeneity of HHT. Even within the same family there could be great variations with respect to manifestation and severity of the disease. (Shovlin, 1997). Disease-causing mutations had been identified in both the endoglin (ENG, MIM# 131195) gene (McAllister et al., 1994) on chromosome 9 (HHT type 1) and in the activin receptor-like kinase (ALK1, also designated ACVRL1, MIM# 601284) gene (Johnson et al., 1996) on chromosome 12 (HHT ...

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The present results provide some explanation for the previously noted high incidence of Kaposi's sarcoma in Saudi transplant patients.