Tibial speed of sound changes in preterm infants during the first year of life.

INTRODUCTION: Metabolic bone disease of prematurity (MBD) frequently affects preterm infants. The accurate diagnosis of the MBD remains a challenging issue despite characteristic clinical, laboratory and imaging features. Recently, non-invasive quantitative ultrasound (QUS) measuring speed of sound (SOS) has been applied to assess bone status. Limited data are available on comparison of QUS among preterm infants. OBJECTIVE: To evaluate development of tibial bone SOS values in preterm infants during the first year of life and compare the SOS values among different birth weight categories. METHODS: QUS was used in 153 infants below 34 weeks of gestation. The study group was divided into 3 subgroups based on birth weight (BW): ≤1000 g, 1001-1500 g and >1500 g. SOS measurement was performed at 6 and 12 months of corrected age (CA). RESULTS: Overall, we found significant increase in mean tibial SOS between 6 and 12 months of CA (3004 ±â€¯123 vs 3253 ±â€¯109 m/s, p = 0.001). There were significant differences in SOS among birth weight categories at 6 months of CA (p = 0.045). However, these differences were not statistically significant at 12 months of CA (p = 0.289). The infants ≤ 1000 g scored the highest SOS values at both time points. CONCLUSIONS: Tibial SOS significantly increases during infancy in preterm newborns. Significant variation exists in SOS at 6 months, but not at 12 months of corrected age according to BW. Moreover, inverse correlation between BW and SOS indicating better bone status was revealed in extremely low birth weight infants at both 6 or at 12 months of CA.

Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene.

Asphyxiating thoracic dysplasia (ATD) represents a heterogeneous group of skeletal dysplasias with short ribs, narrow chest and reduced thoracic capacity. Mutations in several genes including IFT80, DYNC2H1, TTC21B and WDR19 have been found in patients with ATD. Both severe and milder course of the disease were described in correlation with secondary involvement of lung's function. Two children with attenuated form of ATD are described. Their anthropometric parameters for birth weight, length and head circumference were normal but narrow thorax was observed in both of them in early infancy with chest circumference < -3 SD (standard deviation) in comparison to age related controls. The postnatal adaptation and development of both children was uneventful except for mild tachypnoea in one of them which persisted till the age of 6 months. In both children, radiographs revealed narrow upper half of the chest with shorter ribs and atypical configuration of pelvis with horizontally running acetabula and coarse internal edges typical for ATD. Molecular analyses using whole exome sequencing in one family revealed that the patient is compound heterozygote in DYNC2H1 gene for a frame-shift mutation c.4458delT resulting in premature stop-codon p.Phe1486Leufs*11 and a missense mutation c.9044A>G (p.Asp3015Gly). The second family refused the DNA analysis. Regular monitoring of anthropometric parameters during childhood is of big importance both in health and disease. In addition, measurement of the chest circumference should be included, at least at birth and during infancy.

High doses of acyclovir: a new concept in the treatment of neonatal herpes simplex virus infection.

The authors present a case of a preterm newborn with congenital infection of herpes simplex virus type 2. The patient was treated with newly recommended high intravenous doses of acyclovir. It can be supposed that it reduces mortality, but the high morbidity continues to be a problem.