Foley catheter versus cervical double balloon for labor induction: a prospective randomized study.

OBJECTIVE: Cervical ripening by mechanical methods enhances labor induction success. We compared Cervical Ripening Double Balloon catheter (CRDB) to Foley catheter. STUDY DESIGN: This prospective blind study randomized 85 nulliparas and 95 multiparas to labor induction by either Foley catheter or CRDB. Primary outcomes were Bishop score increment, time from catheter withdrawal to delivery, and cesarean section rate. RESULTS: In multiparas, mean Bishop score increment between pre- and post-catheter was significantly higher in the CRDB catheter than in the Foley group (4.4 ± 1.9 and 3.4 ± 2.0, respectively, p = .02). Mean interval from catheter withdrawal to delivery was shorter in the CRDB catheter (14.6 ± 12.3 and 8.6 ± 5.4) than in the Foley catheter group (22.6 ± 27.2 and 13.9 ± 17.7), in both nulliparas and multiparas (p = .05 and p = .03, respectively). In nulliparas, no statistically significant differences were found in mean Bishop score increment between the two catheters, but cesarean section rate was higher in the Foley group than the CRDB group (46.5% and 20%, respectively, p = .02). CONCLUSION: Bishop score increment by CRDB catheter is more effective than induction by Foley catheter in multiparas. CRDB catheter is associated with decreased time to delivery in both nulliparas and multiparas and a lower cesarean section rate in nulliparas. ClinicalTrials.gov Identifier: NCT00501033.

Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment.

Cerebrotendinous xanthomatosis (CTX) is a progressive metabolic leukodystrophy. Early identification and treatment from birth onward effectively provides a functional cure, but diagnosis is often delayed. We conducted a pilot study using a two-tier test for CTX to screen archived newborn dried bloodspots (DBSs) or samples collected prospectively from a high-risk Israeli newborn population. All DBS samples were analyzed with flow injection analysis (FIA)-MS/MS, and 5% of samples were analyzed with LC-MS/MS. Consecutively collected samples were analyzed to identify CTX-causing founder genetic variants common among Druze and Moroccan Jewish populations. First-tier analysis with FIA-MS/MS provided 100% sensitivity to detect CTX-positive newborn DBSs, with a low false-positive rate (0.1-0.5%). LC-MS/MS, as a second-tier test, provided 100% sensitivity to detect CTX-positive newborn DBSs with a false-positive rate of 0% (100% specificity). In addition, 5ß-cholestane-3α,7α,12α,25-tetrol-3-O-ß-D-glucuronide was identified as the predominant bile-alcohol disease marker present in CTX-positive newborn DBSs. In newborns identifying as Druze, a 1:30 carriership frequency was determined for the c.355delC CYP27A1 gene variant, providing an estimated disease prevalence of 1:3,600 in this population. These data support the feasibility of two-tier DBS screening for CTX in newborns and set the stage for large-scale prospective pilot studies.

Sequence variation in PPP1R13L results in a novel form of cardio-cutaneous syndrome.

Dilated cardiomyopathy (DCM) is a life-threatening disorder whose genetic basis is heterogeneous and mostly unknown. Five Arab Christian infants, aged 4-30 months from four families, were diagnosed with DCM associated with mild skin, teeth, and hair abnormalities. All passed away before age 3. A homozygous sequence variation creating a premature stop codon at PPP1R13L encoding the iASPP protein was identified in three infants and in the mother of the other two. Patients' fibroblasts and PPP1R13L-knocked down human fibroblasts presented higher expression levels of pro-inflammatory cytokine genes in response to lipopolysaccharide, as well as Ppp1r13l-knocked down murine cardiomyocytes and hearts of Ppp1r13l-deficient mice. The hypersensitivity to lipopolysaccharide was NF-κB-dependent, and its inducible binding activity to promoters of pro-inflammatory cytokine genes was elevated in patients' fibroblasts. RNA sequencing of Ppp1r13l-knocked down murine cardiomyocytes and of hearts derived from different stages of DCM development in Ppp1r13l-deficient mice revealed the crucial role of iASPP in dampening cardiac inflammatory response. Our results determined PPP1R13L as the gene underlying a novel autosomal-recessive cardio-cutaneous syndrome in humans and strongly suggest that the fatal DCM during infancy is a consequence of failure to regulate transcriptional pathways necessary for tuning cardiac threshold response to common inflammatory stressors.