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.

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.

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.