FOXN1 Duplication and Congenital Hypertrichosis.

We report a case of congenital hypertrichosis and FOXN1 duplication. FOXN1 is a member of the forkhead box gene family, located on chromosome 17. Its function includes differentiation of epithelial cells and regulation of keratinocytes, especially hair keratins. Loss of function of these transcription factors leads to a disruption in hair growth. As far as we are aware, this is the first case of FOXN1 duplication associated with congenital hypertrichosis to be reported in the literature.

Comparison of midwife-led and consultant-led care of healthy women at low risk of childbirth complications in the Republic of Ireland: a randomised trial.

BACKGROUND: No midwifery-led units existed in Ireland before 2004. The aim of this study was to compare midwife-led (MLU) versus consultant-led (CLU) care for healthy, pregnant women without risk factors for labour and delivery. METHODS: An unblinded, pragmatic randomised trial was designed, funded by the Health Service Executive (Dublin North-East). Following ethical approval, all women booking prior to 24 weeks of pregnancy at two maternity hospitals with 1,300-3,200 births annually in Ireland were assessed for trial eligibility.1,653 consenting women were centrally randomised on a 2:1 ratio to MLU or CLU care, (1101:552). 'Intention-to-treat' analysis was used to compare 9 key neonatal and maternal outcomes. RESULTS: No statistically significant difference was found between MLU and CLU in the seven key outcomes: caesarean birth (163 [14.8%] vs 84 [15.2%]; relative risk (RR) 0.97 [95% CI 0.76 to 1.24]), induction (248 [22.5%] vs 138 [25.0%]; RR 0.90 [0.75 to 1.08]), episiotomy (126 [11.4%] vs 68 [12.3%]; RR 0.93 [0.70 to 1.23]), instrumental birth (139 [12.6%] vs 79 [14.3%]; RR 0.88 [0.68 to 1.14]), Apgar scores < 8 (10 [0.9%] vs 9 [1.6%]; RR 0.56 [0.23 to 1.36]), postpartum haemorrhage (144 [13.1%] vs 75 [13.6%]; RR 0.96 [0.74 to 1.25]); breastfeeding initiation (616 [55.9%] vs 317 [57.4%]; RR 0.97 [0.89 to 1.06]). MLU women were significantly less likely to have continuous electronic fetal monitoring (397 [36.1%] vs 313 [56.7%]; RR 0.64 [0.57 to 0.71]), or augmentation of labour (436 [39.6%] vs 314 [56.9%]; RR 0.50 [0.40 to 0.61]). CONCLUSIONS: Midwife-led care, as practised in this study, is as safe as consultant-led care and is associated with less intervention during labour and delivery.

Respiratory Syncytial Virus Preterm (32-36 Completed Weeks of Gestation) Risk Estimation Measure for RSV Hospitalization in Ireland: A Prospective Study.

BACKGROUND: In several countries, respiratory syncytial virus prophylaxis is offered to late preterm infants who are at escalated risk of respiratory syncytial virus hospitalization (RSVH). However, targeted prophylaxis should be informed by country-specific data. This study, which uniquely includes 36 weeks of gestational age (GA) infants, aims to establish the risk factors for RSVH in 32-36 weeks of GA infants in Ireland. METHODS: A prospective observational study at 13 hospitals of laboratory-confirmed RSVH in nonprophylaxed 32-36 weeks of GA infants was conducted from July 2011 to February 2014. Baseline and first-year clinical data were analyzed by using SPSS software Version 22 (IBM Corp, Armonk, NY). Significant (P < 0.05) variables were entered into multiple logistic regression to determine the independent risk factors for RSVH. RESULTS: Sixty-three percent of eligible infants (1825 of 2877) were recruited. The RSVH rate was 3.6% (65 of 1807 analyzed infant records). There was no RSV-attributable mortality. Twelve infants required intensive care. Of the 15 variables correlating to RSVH, 5 independent risk factors were identified: older siblings [odds ratio (OR): 3.8; 95% confidence interval (CI): 1.97-7.41], being Caucasian (OR: 2.3; 95% CI: 1.04-5.29), neonatal respiratory morbidity (OR: 2.2; 95% CI: 1.28-3.94); birth July 15 to December 15 (OR: 2.1; 95% CI: 1.09-3.92) and family history of asthma (OR: 1.9; 95% CI: 1.01-3.39). Birth from 36 weeks to 36 + 6 days mitigated RSVH risk (relative risk: 0.58; 95% CI: 0.34-0.99); however, risk factors were similar to the 32-35 weeks of GA cohort. CONCLUSION: Neonatal respiratory morbidity or being Caucasian were the population-specific independent risk factors for RSVH in 32-36 weeks of GA in Ireland, whereas the other identified independent risk factors mirrored those established in previous studies.

Importance of parental conceptual model of illness in severe recurrent abdominal pain.

OBJECTIVES: Recurrent abdominal pain (RAP) affects up to 15% of children. A biopsychosocial approach to the treatment of children with RAP has been proposed as an alternative to the traditional medical model. The aim of this study was to examine whether the parental conceptual model of illness is a factor in the long-term outcome of children with severe RAP. METHODS: The study was undertaken in 2 parts: 1) a review of the medical and psychiatric records (including Child Behavior Checklist [CBCL]) of all children with RAP of sufficient severity to necessitate hospitalization during a 5-year period and 2) a structured telephone interview to collect information on ongoing abdominal pain, other somatic symptoms, school attendance, and the parents' opinion as to the cause of the child's pain. RESULTS: Twenty-eight of 30 children who were identified were available for follow-up. Twenty-three (82%) were tertiary referrals from other pediatric services, and 20 had pain for >6 months. On admission 7 (25%) of 28 had a depressive disorder, and 8 (29%) had an anxiety/depressive disorder. Twenty-one of 28 parents completed the CBCL, and on analysis of the CBCL, 11 (52%) children had scores in the clinical range (>65). At follow-up (mean: 3.56 years; standard deviation: 1.59), 14 (50%) of 28 continued to complain of pain. These children also complained of multiple other somatic complaints and had repeated school absences. Only 1 (7%) of 14 parents of children with ongoing pain believed that there was a psychological cause for their child's pain, whereas 11 (78%) of 14 parents of the children who had recovered believed that the cause was attributable to psychological factors (odds ratio: 47.67; 95% confidence interval: 3.56-1511.6). CONCLUSIONS: The acceptance by parents of a biopsychosocial model of illness is important for the resolution of recurrent abdominal pain in children.