Hani Akoury

Molar Tooth Sign in Fetal Brain Magnetic Resonance Imaging Leading to the Prenatal Diagnosis of Joubert Syndrome and Related Disorders

Joubert syndrome is a rare autosomal recessive disorder characterized by ataxia, developmental delay, and oculomotor and respiratory abnormalities in relation to cerebellar vermian and midbrain dysgenesis. The midbrain dysgenesis is responsible for the molar tooth sign on axial magnetic resonance imaging (MRI). This classic hallmark of Joubert syndrome has been identified in other disorders sharing overlapping clinical and radiologic features with Joubert syndrome. Recent identification of two different genes points to genetic heterogeneity in this group of disorders, now entitled Joubert syndrome and related disorders, making a genetic prenatal diagnosis not readily available. In addition, fetal ultrasonography lacks sensitivity in regard to posterior fossa malformation. Fetal MRI is now acknowledged as the method of choice to delineate posterior fossa malformation in a fetus. The identification of a molar tooth sign has, however, rarely been documented by a fetal brain MRI. We report a case of Joubert syndrome diagnosed prenatally using fetal MRI. We also discuss the etiology of Joubert syndrome in view of the recent genetic advances and murine models of cerebellar dysgenesis. (J Child Neurol 2006;21:320—324; DOI 10.2310/7010.2006.00075).

A Randomized Controlled Trial of a Bedside Partogram in the Active Management of Primiparous Labour

OBJECTIVE The partogram is a pictorial representation of the progress of labour, used in an effort to enhance early recognition of dystocia and help avoid Caesarean section (CS). The objective of this study was to evaluate the effect of partogram use on the CS and obstetric intervention rates. METHODS We conducted a randomized controlled trial of use of the partogram in 1932 primiparous women with uncomplicated pregnancies at term. Patients were randomly assigned to one of two groups: the standard group, who had the progress of labour charted in written notes, or the partogram group, whose progress in labour was recorded using a bedside graphical partogram as well as in written notes. Outcomes were stratified according to whether labour was spontaneous or induced and whether membranes were initially intact or ruptured. The primary outcome was the rate of CS; secondary outcome measures were rates of obstetric intervention for dystocia. RESULTS There was no significant difference between the groups in rates of CS (partogram 24%, standard notes 25%), rates of other interventions, amniotomy, oxytocin use, or the mean cervical dilatation in labour. CONCLUSION In this study, the use of a partogram without a mandatory management of labour protocol had no effect on rates of CS or other intrapartum interventions in healthy primiparous women at term.

The role of molecular microsatellite identity testing to detect sampling errors in prenatal diagnosis.

The objective was to determine the risk of sampling error in amniocentesis and chorionic villus sampling (CVS) in singleton and multiple pregnancies. Data from this and other published studies were used to discuss current practice guidelines for molecular identity testing.

The Effectiveness of Proctofoam-HC for Treatment of Hemorrhoids in Late Pregnancy

OBJECTIVE Currently no topical anti-hemorrhoidal agents have been studied for effectiveness in pregnancy. This study evaluated the effectiveness of Proctofoam-HC used during the last trimester of pregnancy. METHODS In this prospective, open-label, observational study, pregnant women prescribed Proctofoam-HC were asked to complete two telephone interview questionnaires. RESULTS A total of 88 women completed the study. All hemorrhoidal symptoms, including pain, pruritus, swelling, itching, decreased significantly (P < 0.001) and overall well-being improved. The improvement was clinically very significant after correction for potential placebo effect. CONCLUSIONS Proctofoam-HC appears to provide effective treatment of hemorrhoids in late pregnancy.

Success Rate for Culture of Fetal Postmortem Tissue Is Dependent on the Method of Pregnancy Termination

Objective: To determine the effect of different methods of pregnancy termination on the culture success rate of postmortem fetal tissue. Methods: In a randomized trial, umbilical cord specimens were collected in a standardized manner and culture success rates were compared according to the method of pregnancy termination. Results: There was a significantly higher culture success rate in the vaginal (90.0%) and oral misoprostol (83.0%) groups compared to the intra-amniotic injection of prostaglandin group (52.8%). Conclusion: The results of our study and the very high success rate reported by others from specimens following dilatation and evacuation lead us to suggest that exposure to drugs used to induce abortion may be a more important factor in culture failure than either tissue type or time in transit.