Control of G1 in the developing Drosophila eye: rca1 regulates Cyclin A

Ehlers-Danlos syndrome (EDS) type VII results from defects in the conversion of type I procollagen to collagen as a consequence of mutations in the substrate that alter the protease cleavage site (EDS type VIIA and VIIB) or in the protease itself (EDS type VIIC). We identified seven additional families in which EDS type VII is either dominantly inherited (one family with EDS type VIIB) or due to new dominant mutations (one family with EDS type VIIA and five families with EDS type VIIB). In six families, the mutations alter the consensus splice junctions, and, in the seventh family, the exon is deleted entirely. The COL1A1 mutation produced the most severe phenotypic effects, whereas those in the COL1A2 gene, regardless of the location or effect, produced congenital hip dislocation and other joint instability that was sometimes very marked. Fractures are seen in some people with EDS type VII, consistent with alterations in mineral deposition on collagen fibrils in bony tissues. These new findings expand the array of mutations known to cause EDS type VII and provide insight into genotype/phenotype relationships in these genes.     

Coupled column chromatography in chiral separation of salmeterol

The neuromuscular hamartoma (also referred to as the neuromuscular choristoma or benign triton tumor) is a rare developmental lesion composed of mature elements of both striated muscle and nerve. To date, less than 20 cases have been reported in the English language literature. The majority of these have involved large nerves, such as the sciatic or brachial plexus, but cutaneous lesions have also been reported. We report 2 cases that involve the head and neck and that are among the few described in this location. The majority of cases have been described in infants and young children. However, 1 of our cases (and at least 1 previously reported case) occurred in an adult. While surgical excision has been the most widely used form of therapy, a few cases have been complicated by and/or associated with a second lesion, such as a fibromatosis or lymphangioma.     

Laparoscopic anti-reflux surgery--report of experiences from Germany

This is a report on a questionnaire in Germany reflecting the activity in antireflux surgery, both in open and laparoscopic modifications in the time period of 1990 through 1995. It serves as an overview of the acceptance of diagnostic workup, indication, applied techniques, and different antireflux procedures. In a total of 104 representative hospitals, 2,036 patients were operated during this time. Almost 80% of the hospitals provide antireflux surgery in the open technique and only 1/3 of the hospitals have experience in the laparoscopic technique. There is a total rise in antireflux surgery during the last 5 years, since the number of laparoscopic antireflux operations rises constantly with a total amount of open operations of about 250 cases per year. In open surgery the most favourite technique is the Nissen-Rossetti procedure, while in laparoscopic technique the choice for the original Nissen, the Nissen-Rossetti, or the floppy Nissen technique is divided in almost equal parts.     

Requirement for Atm in ionizing radiation-induced cell death in the developing central nervous system

Ataxia telangiectasia (AT) is characterized by progressive neurodegeneration that results from mutation of the ATM gene. However, neither the normal function of ATM in the nervous system nor the biological basis of the degeneration in AT is known. Resistance to apoptosis in the developing central nervous system (CNS) of Atm-/- mice was observed after ionizing radiation. This lack of death occurred in diverse regions of the CNS, including the cerebellum, which is markedly affected in AT. In wild-type, but not Atm-/- mice, up-regulation of p53 coincided with cell death, suggesting that Atm-dependent apoptosis in the CNS is mediated by p53. Further, p53 null mice showed a similar lack of radiation-induced cell death in the developing nervous system. Atm may function at a developmental survival checkpoint that serves to eliminate neurons with excessive DNA damage.