[Effect of repetitive prenatal corticosteroid medication on intrauterine growth and growth in early childhood].

Objective: The evaluation of the effects of repeated antenatal corticosteriod (CS) medication on birth size and size at the age of 4 years.

Methods: 82 children exposed to CS initially between 26 and 28 weeks of gestation were matched with 82 controls of the same gestational age and sex.

Results: No differences were observed between the CS and control groups with regard to weight, head circumference, and length at birth and at the age of 4 years.

[Measuring bone density with ultrasound osteodensitometry--results of a pilot study].

Osteoporosis is a systemic bone disease with a decrease in bone structure and increased risk of fractures. The primary diagnosis of osteoporosis and the surveillance of therapeutic interventions is based either on laboratory or on radiological diagnosis. In a pilot study encompassing 274 women the routine use of ultrasound osteodensitometry (QUS, Lunar Achilles) of the os calcaneus was validated and tested.

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.

The candidate region for spinal muscular atrophy (SMA) has been defined as a 750 kb interval on 5q13. In this study, we performed allelic association studies in 154 German SMA families with the multicopy markers Ag1-CA (D5S1556); C212 (D5F149S1/S2) and correlated genotype data with deletion of candidate genes. Both multicopy markers recognize 0-3 alleles pro chromosome.

Mapping of the spinal muscular atrophy (SMA) gene to a 750-kb interval flanked by two new microsatellites.

The gene for autosomal recessive proximal spinal muscular atrophy (SMA) has recently been mapped between D5S629 and D5S557. We report here a new single-locus microsatellite A31 (D5S823) and two multicopy microsatellites 97T-CA and 95/23-CA. The marker A31 maps to the region of overlap between YACs y116, y55 and y122, distal to D5S629; 97T-CA originates from a cosmid corresponding to the STS 97T, localized distally to A31, while 95/23-CA derives from a cosmid corresponding to the STS 97U, localized proximally to D5S557.

Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3.

The autosomal recessive proximal spinal muscular atrophy (SMA) gene was mapped to the region 5q11.2-q13.3 in 1990.