Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in RFX6.

Mitchell-Riley syndrome (MRS) is caused by recessive mutations in the regulatory factor X6 gene (RFX6) and is characterised by pancreatic hypoplasia and neonatal diabetes. To determine why individuals with MRS specifically lack pancreatic endocrine cells, we micro-CT imaged a 12-week-old foetus homozygous for the nonsense mutation RFX6 c.1129C>T, which revealed loss of the pancreas body and tail. From this foetus, we derived iPSCs and show that differentiation of these cells in vitro proceeds normally until generation of pancreatic endoderm, which is significantly reduced. We additionally generated an RFX6HA reporter allele by gene targeting in wild-type H9 cells to precisely define RFX6 expression and in parallel performed in situ hybridisation for RFX6 in the dorsal pancreatic bud of a Carnegie stage 14 human embryo. Both in vitro and in vivo, we find that RFX6 specifically labels a subset of PDX1-expressing pancreatic endoderm. In summary, RFX6 is essential for efficient differentiation of pancreatic endoderm, and its absence in individuals with MRS specifically impairs formation of endocrine cells of the pancreas head and tail.

Risk factors of surgical failure following sacrospinous colpopexy for the treatment of uterovaginal prolapse.

PURPOSE: Trans-vaginal sacrospinous colpopexy is one of the surgical procedures used to repair varying degrees of vaginal vault and uterovaginal prolapse. The purpose of this study is to analyse the potential risk factors of surgical failure following sacrospinous colpopexy. METHODS: A retrospective study of 114 women who underwent unilateral sacrospinous colpopexy at Jordan University Hospital from January 2005 to January 2008 were included. Patient demographics, clinical characteristics and concomitant pelvic organ prolapse surgery were assessed. The patients were evaluated at 6 weeks, and every 6 months thereafter. Twelve (11 %) had recurrent apical (vaginal cuff) prolapse, 26 (23 %) had recurrent prolapse at any compartment were compared with those who had successful surgery. Univariate and logistic regression analyses were used to assess the independent prognostic values of the variables associated with surgical failure. RESULTS: After a mean follow-up of 40 months, the statistically significant predictors of surgical failure included the presence of advanced pre-operative stages of prolapse (stages III and IV), the more distally located points Ba, Bp and C and a lack of mesh augmentation of the anterior vaginal wall during surgery (P = 0.01, 0.027, 0.024, 0.034 and 0.006, respectively). However, a history of prior vaginal repair, the more distally located point Ba and a lack of anterior vaginal wall mesh augmentation were defined as independent predictive variables based on logistic regression analyses (P = 0.04, 0.005 and 0.046, respectively). CONCLUSIONS: The presence of advanced anterior vaginal wall prolapse, prior vaginal repair and a lack of mesh augmentation of the anterior compartment are significant risk factors for the surgical failure of sacrospinous suspension surgery.

Iatrogenic water intoxication in healthy parturient causing convulsions and fractured mandible.

We report a case of a mandibular dentoalveolar fracture caused by severe iatrogenic hyponatremia-induced grand mal seizure in a 31-year-old pregnant lady who underwent normal vaginal delivery. She had oxytocin augmentation of her labor, and the seizure happened in the immediate postpartum period. The seizure was thought to be because of severe hyponatremia and prompt management controlled the metabolic disorder. The fracture was reduced and fixed successfully, and she was discharged after 48 hours, healing was uneventful.

Effects of perinatal risk factors on common neonatal respiratory morbidities beyond 36 weeks of gestation.

OBJECTIVE: To assess the incidence of respiratory morbidity (RM) in all single live neonates born more than 36 weeks of gestation, and the effects of perinatal characteristics on these morbidities. METHODS: This is a prospective hospital based study covering a 12-month period. The study took place at the Department of Pediatrics, Jordan University Hospital, Amman, Jordan, between January and December 2009. The effects of different perinatal characteristics on RM including transient tachypnea of the newborn (TTN) and respiratory distress syndrome (RDS) were analyzed. RESULTS: A total of 2282 newborns were included. One thousand two hundred and seventy-six (55.9%) of the newborns were delivered by vaginal delivery and 1,006 (44%) by cesarean section (CS) (24.5% by emergency CS and 19.5% by elective CS). Respiratory morbidity was reported in 3.7%. The incidence of TTN was 2.9% and RDS was 0.7%. Elective CS was found to be a risk factor for RM development when the gestational age was less than 39 weeks. Maternal hypertension and diabetes mellitus, and the absence of labor were independent risk factors for RM. The emergency CS and large for gestational age babies were risk factors for TTN, while male gender and GA less than 37 0+6 weeks were risk factor for RDS. CONCLUSION: The collaborative obstetric and neonatology responsibility helps to identify the risk factors for adverse respiratory outcome when considering the time and mode of delivery. The pregnant mother should be informed regarding this possibility if delivery by elective CS is performed before the 39 0+6 weeks of gestation.

Fetal pericardial teratoma: presentation of two cases and review of literature.

We present the fetal ultrasound and echocardiographic findings and clinical outcome of two fetuses with intrapericardial teratoma encountered in our institution. In the first (diagnosed at 19 weeks of gestation) case there was elective termination of pregnancy; in the second case (diagnosed at 24 weeks), a pericardio-amniotic shunt was placed after reaccumulation of fluid following pericardiocentesis. We review the published experience of intrapericardial teratomas, focusing on the diagnosis, fetal echocardiographic findings, and outcome with and without prenatal intervention.