[Spontaneous rupture of a splenic artery aneurysm during the early puerperium].

A 35-year-old otherwise healthy woman was found unconscious on the floor of her room in the delivery ward 3 days after giving birth by a cesarean section. Following primary evaluation and resuscitation, a relaparotomy for assumed internal bleeding was performed, and active bleeding from a splenic artery aneurysm was discovered. The following case report reminds us yet again that the puerperium is a highly unique period in a woman's life during which submerged pathologies surface, and therefore, poses a great challenge to the caring physician.

Fish based preimplantation genetic diagnosis to prevent DiGeorge syndrome.

Purpose: To report the performance of fluorescence in-situ hybridization in the setting of preimplantation genetic diagnosis in order to diagnose embryos affected by DiGeorge syndrome.

Design: Case report.

Setting: Academic referral center.

Improved accuracy of postpartum blood loss estimation as assessed by simulation.

Objective: Caregivers underestimate the amount of blood loss, but this almost five decades-old assumption has not been validated. We aimed at assessing the accuracy of estimated blood loss by obstetrical teams during a simulated Postpartum hemorrhage (PPH) scenario.

Study Design: a prospective study conducted as part of the simulation-based training course, using sophisticated mannequin simulators adapted for obstetrical training by specially designed devices.

Preconceptional and prenatal screening for fragile X syndrome: experience with 40,000 tests.

Objectives: To determine the carrier frequency of fragile X syndrome, and the rate of expansion from premutation (PM) carrier to full mutation (FM) fetus.

Methods: Results were analyzed on women with no family history of fragile X syndrome, or who were PM/FM carriers, who were tested between January 1994 and June 2004. PM was defined 55-199 repeats, FM above 200.

Recurrent obstetric management mistakes identified by simulation.

Objective: To develop a simulation-based curricular unit for labor and delivery teams involved in obstetric emergencies to detect and address common mistakes.

Methods: A simulation-based curricular unit for hands-on training of four obstetric emergency scenarios was developed using high-tech mannequins and low-tech simulators. The scenarios were eclamptic seizure, postpartum hemorrhage, shoulder dystocia, and breech extraction.

Isolated levocardia: prenatal diagnosis, clinical importance, and literature review.

Objective: Isolated levocardia is a rare type of situs inversus in which the heart is in the normal levo position, but the abdominal viscera are in the dextro position. We aim to describe our experience with prenatal diagnosis and management in fetuses with isolated levocardia.

Methods: Of all the cases referred to our tertiary ultrasound unit, 3 cases of isolated levocardia were diagnosed.

Cortistatin inhibits growth hormone release from human fetal and adenoma pituitary cells and prolactin secretion from cultured prolactinomas.

Context: Cortistatin (CST) is a neuropeptide that shares high homology with somatostatin and binds with high affinity to all somatostatin receptor (SSTR) subtypes. Many of its endocrine and biological activities overlap with those of somatostatin.

Objective/design: The objective of the study was to assess the direct in vitro effects of CST on human pituitary hormone secretion.

Embryonic karyotype in recurrent miscarriage with parental karyotypic aberrations.

Objective: To assesses chromosomal aberrations in the abortus in recurrent miscarriage, in the presence of parental chromosomal aberrations.

Design: Retrospective comparative cohort study.

Setting: Tertiary referral unit in university hospital.

Nitric oxide stimulates growth hormone secretion from human fetal pituitaries and cultured pituitary adenomas.

Nitric oxide (NO), a highly reactive free radical, has been identified as a neurotransmitter in the central and peripheral nervous system. NO synthase (NOS) is the enzyme responsible for NO production from L-arginine and plays an important role in regulating the release of several hypothalamic peptides. In the pituitary, NO was found to increase growth hormone (GH) secretion in several in vitro and in vivomodels.

Chromosomal abnormalities and birth defects among couples with colchicine treated familial Mediterranean fever.

Objective: To determine whether colchicine prescribed for familial Mediterranean fever is teratogenic.

Study Design: Reproductive histories were analyzed from 326 couples referred for prenatal diagnosis because 1 partner was affected. Numbers of chromosomal abnormalities and birth defects were compared with numbers expected from published rates.

Chromosome aberration and environmental physical activity: Down syndrome and solar and cosmic ray activity, Israel, 1990-2000.

The possibility that environmental effects are associated with chromosome aberrations and various congenital pathologies has been discussed previously. Recent advances in the collection and computerization of data make studying these potential associations more feasible. The aim of this study was to investigate a possible link between the number of Down syndrome (DS) cases detected prenatally or at birth yearly in Israel over a 10-year period compared with the levels of solar and cosmic ray activity 1 year before the detection or birth of each affected child.

Trophoblasts isolated from the maternal circulation: in vitro expansion and potential application in non-invasive prenatal diagnosis.

Prenatal diagnosis based on rare fetal cells in maternal blood is currently not a feasible option. An effort was made to improve cell yields by targeting trophoblast cells. After sorting, the HLA-G-positive cell fraction was analyzed directly or after culture.

CAG repeat polymorphism within the KCNN3 gene is a significant contributor to susceptibility to anorexia nervosa: a case-control study of female patients and several ethnic groups in the Israeli Jewish population.

The human small-conductance Ca(2+)-activated potassium channel gene KCNN3 has been involved in mechanisms underlying neuronal function and plasticity. A multiallelic CAG repeat polymorphism within the KCNN3 has been associated with schizophrenia and bipolar disorder. We have previously reported in a family-based study that longer CAG repeats are preferentially transmitted to patients with anorexia nervosa (AN).

Analysis of fetal blood cells in the maternal circulation: challenges, ongoing efforts, and potential solutions.

The invasive procedures amniocentesis and chorionic villus sampling (CVS) are routinely applied in pregnancies at risk for fetal abnormalities and the results obtained are the gold standard for prenatal diagnosis. Because these methods of fetal cell procurement involve a 0.5-2% risk for fetal loss, they are recommended mainly in cases at high risk for fetal genetic or cytogenetic abnormalities.

Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients.

Osteogenesis imperfecta (OI) is clinically characterized by abnormal bone fragility, with most patients harboring heterozygote germline mutations in the COL1A1 or COL1A2 genes that encode the chains of type I procollagen, the major protein in bone. More than 250 mutations in both genes in OI patients have been reported, mostly missense mutations affecting glycine residues in the triple helical domains of the two chains. These mutations disrupt protein folding and structure, and their effects often can be detected by the analysis of proteins synthesized but cultured fibroblasts or, less often, osteoblasts.

Prenatal diagnosis of Down syndrome: ten year experience in the Israeli population.

Second trimester maternal serum biochemical markers, introduced between 1990 and 1995, were supplemented with new ultrasound methods at 14-16 weeks and first trimester biochemical markers between 1995 and 2000. This study evaluated the effectiveness of a Down syndrome (DS) prevention program among the Israeli Jewish population between 1990 and 2000. We collected data on the total number of prenatal tests performed on Israeli Jewish women, DS cases detected prenatally and DS livebirths in Israel during these years.

The cell adhesion molecules N-cadherin and neural cell adhesion molecule regulate human growth hormone: a novel mechanism for regulating pituitary hormone secretion.

Pituitary GH secretion is regulated by hypothalamic hormones and peripheral factors. Cell-cell contact may also have an important role in regulating pituitary hormone expression and secretion. The role of pituicyte cell-cell contact mediated by N-cadherin and neural cell adhesion molecule (N-CAM) was studied in the regulation of GH secretion.

Frequency of Down's syndrome and neural-tube defects in the same family.

Background: There is evidence that some mothers of infants with Down's syndrome have abnormal metabolism of folate and methyl, as well as mutations in folate genes, which are features that are also seen in neural-tube defects (NTD). We therefore investigated whether Down's syndrome and NTD arise more often in the same family than would be expected from the incidence of each disorder considered separately.

Methods: We studied two series of families using information obtained from medical records about maternal age, pregnancy outcome, congenital malformations, and karyotype: the first, 493 families from Israel who were at high risk of NTD (445 with a history of NTD and 48 with isolated hydrocephalus); and the second, 516 families from the Ukraine at high risk of Down's syndrome.

Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel.

Background: The Bloom syndrome gene, BLM, was mapped to 15q26.1 and its product was found to encode a RecQ DNA helicase. The Fanconi's anemia complementation group C gene was mapped to chromosome 9q22.