The biological processes controlling human growth are diverse, complex and poorly understood. Genetic factors are important and human height has been shown to be a highly polygenic trait to which common and rare genetic variation contributes. Weaver syndrome is a human overgrowth condition characterised by tall stature, dysmorphic facial features, learning disability and variable additional features. We performed exome sequencing in four individuals with Weaver syndrome, identifying a mutation in the histone methyltransferase, EZH2, in each case. Sequencing of EZH2 in additional individuals with overgrowth identified a further 15 mutations. The EZH2 mutation spectrum in Weaver syndrome shows considerable overlap with the inactivating somatic EZH2 mutations recently reported in myeloid malignancies. Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth.

Background: The tricuspid annular plane systolic excursion (TAPSE) is an echocardiographic measurement to assess right ventricular systolic function in adults and children. Objective: We determined growth- and birth weight-related changes of TAPSE to establish reference values in preterm and term neonates. Methods: A prospective study was conducted in a group of 258 preterm and term neonates (age: 25+0 to 40+6 weeks of gestation, birth weight: 530–4,200 g). Results: The TAPSE ranged from a mean of 0.44 cm (Z-score ±2: 0.30–0.59 cm) in preterm neonates in the 26th week of gestation to 1.03 cm (Z-score ±2: 0.85–1.21 cm) in term neonates in the 41st week of gestation. The TAPSE values increased in a linear way from the 26th to 41st week of gestation. TAPSE, week of gestation and weight are strongly correlated: Pearson’s correlation coefficient was 0.93 for week of gestation – TAPSE (p < 0.001), 0.93 for week of gestation – birth weight (p < 0.001), and 0.89 for birth weight – TAPSE (p < 0.001). There was no statistically significant difference of normal TAPSE values between female and male patients (p = 0.987). Conclusion: Z-scores of TAPSE values were calculated and percentile charts were established to serve as reference data for ready application in preterm and term neonates with structurally normal hearts and with congenital heart disease in the future.

BACKGROUND: Neonatal abstinence syndrome (NAS) is usually treated with opiate derivatives and supported with nonpharmacological treatment.METHODS: This prospective, randomized, controlled, blinded, single-center study was carried out between March 2009 and November 2014. Newborn infants diagnosed with NAS after maternal opioid substitution therapy were eligible for inclusion. Infants were randomly allocated to the acupuncture group (combining laser acupuncture and pharmacological therapy of morphine and phenobarbital) or control group (pharmacological therapy alone). Laser acupuncture was performed with a LABpen MED 10 (675 nm/10 mW) at 5 ear and 4 body acupuncture points, bilaterally, and sessions were repeated every day. The primary outcome measure was duration of oral morphine therapy for NAS. Secondary outcomes included highest single Finnegan score, time to highest single Finnegan score, maximum amount of oral morphine solution (in milliliters per kilogram and milligrams per kilogram), time to maximum amount of oral morphine solution, and length of hospital stay.RESULTS: Twenty-eight newborns (14 in each group) were eligible for analysis. Duration of oral morphine therapy was significantly reduced in the acupuncture group compared with the control group (28 vs 39 days, respectively, P = .019). In addition, we observed a significantly reduced length of hospital stay in the acupuncture group compared with the control group (35 days [interquartile range 25 to 47] vs 50 days [36 to 66], P = .048).CONCLUSIONS: Adjunctive laser acupuncture significantly reduced the duration of morphine therapy in newborns with NAS. WHAT'S KNOWN ON THIS SUBJECT:The impact of neonatal abstinence syndrome is of concern because the number of newborns showing symptoms of withdrawal after intrauterine drug exposure is increasing worldwide. Newborns developing neonatal abstinence syndrome require prolonged medical treatment and longer hospital admission after birth. WHAT THIS STUDY ADDS:This first randomized controlled trial presents data on newborns with neonatal abstinence syndrome treated with laser acupuncture. The findings suggest that adjuvant laser acupuncture has the potential to reduce duration of morphine therapy and length of hospital stay. Dr Raith conceptualized and designed the study, provided oversight for the research procedures and data acquisition, contributed to the interpretation of the data, wrote the first draft of the article, and revised the final manuscript; Dr Schmölzer made substantial contributions to the conceptualization of the study and performed data acquisition and interpretation of data; Drs Schmölzer, Resch, Reiterer, and Avian made substantial contributions to the design of the study; Drs Raith, Resch, Reiterer, Avian, Köstenberger, and Urlesberger reviewed the manuscript and made revisions; Drs Resch and Reiterer made substantial contributions to the randomization procedures and maintained and ensured the masking of personnel; Dr Avian performed statistical analysis and interpretation of dat...

The aim of the paper was to review the literature about safety and efficiency of acupuncture therapy in term and preterm infants. We searched Medline, EMBASE, and Cochrane Central Register of Controlled Trials using a predefined algorithm, reviewed abstracts from the Pediatric Academic Society annual meetings (2000–2012), and performed a manual search of references in narrative and systematic reviews. A total of 26 studies identified met our search criteria. Only 6 of these studies met our inclusion criteria; however, two studies had to be excluded because the manuscripts were published in Chinese. Hence, only four studies were included in our analysis. Three of the four studies evaluated the effects of acupuncture on infantile colic, and one assessed pain reduction during minor painful procedures in preterm babies. The limited data available suggests that acupuncture could be a safe nonpharmacologic treatment option for pain reduction in term and preterm infants and could also be a non-pharmacologic treatment option to treat infantile colic. Currently acupuncture in infants should be limited to clinical trials and studies evaluating short- and long-term effects and should be performed only by practitioners with adequate training and experience in neonatal/pediatric acupuncture.

Background: Neonates undergoing intensive care are routinely submitted to minor painful procedures such as heel lances. Pharmacological treatment is limited in neonatal care and not recommended for minor painful interventions. Hence, non-pharmacological acute pain management is an important subject. Acupuncture could be a new strategy for neonatal pain prevention. Accordingly, the aim of the present study was to investigate whether laser acupuncture is non-inferior to oral sweet solutions in pain prevention. Methods: In total, 96 healthy term neonates were randomly assigned to receive either laser acupuncture with 10 mW at LI4 bilaterally (AG, acupuncture group) or 30% oral glucose solution (GG, glucose group) before heel lance for metabolic screening. The primary outcome was the difference in premature infant pain profile (PIPP) score between groups in a non-inferiority concept. Secondary outcomes were changes in heart rate and crying time. Results: Median (interquartile range) PIPP scores were comparable in the AG and GG (12 (10–14) vs 12 (9–14), p = 0.981). Nevertheless, the 95% confidence interval (CI) of location shift exceeded the predefined margin for non-inferiority of 1 (95% CI: –1.000006 to 1.000059). Heart rate was found to be significantly lower after intervention (p = 0.048) and after heel lance (p = 0.015) in the AG versus GG. There was no difference in crying time between groups (p = 0.890). Conclusion: Laser acupuncture was not shown to be non-inferior to an oral glucose solution, possibly due to the higher than expected variability in PIPP scores within the studied groups. Future neonatal laser acupuncture studies for pain prevention with higher sample sizes are therefore warranted.