Assessment of bone in Ehlers Danlos syndrome by ultrasound and densitometry

OBJECTIVE: Ehlers Danlos syndrome (EDS) is an inherited disorder of connective tissue characterised by hyperextensible skin, joint laxity, and easy bruising. There are phenotypic similarities with osteogenesis imperfecta, but in EDS a tendency to fracture or altered bone mass has not previously been considered to be a cardinal feature. METHOD: This case-control design study investigates whether 23 patients with EDS had differences in fracture rates, bone mass, and calcaneal ultrasound parameters compared with age and sex matched controls. RESULTS: 23 cases of EDS (mean (SD) age 38.5 (15.5)) were compared with 23 controls (mean age 37.8 (14.5)). A significant reduction in bone density measured by dual energy x ray absorptiometry was found at the neck of femur by 0.9 SD, p = 0.05, and lumbar spine by 0.74 SD, p = 0.02. At the calcaneum, broad band ultrasound attenuation and speed of sound were significantly reduced compared with controls by 0.95 SD (p = 0.004) and 0.49 SD (p = 0.004) for broad band ultrasound attenuation and speed of sound respectively. Broad band ultrasound attenuation and speed of sound remained significantly reduced after adjusting for bone mineral density (BMD). After adjusting for functional status (HAQ), age and sex, hypermobility was inversely correlated with broad band ultrasound attenuation and SOS, but not BMD at hip or spine. Previous fracture was 10 times more common in EDS (p < 0.001), with 86.9% of patients reporting a total of 47 low impact fractures, compared with 8.7% of controls. CONCLUSION: This study has identified a tendency of EDS patients to fracture, have low bone mass and abnormal bone structure. The aetiology is likely to be multifactorial, with an inherited structural element, accentuated by immobility or reduced exercise. This is one of the first clinical studies to suggest ultrasound can detect structural differences in bone, independent of dual energy x ray absorptiometry.     

A nuclear genetic lesion affecting Saccharomyces cerevisiae mitochondrial translation is complemented by a homologous Bacillus gene

A novel Bacillus gene was isolated and characterized. It encodes a homolog of Saccharomyces cerevisiae Pet112p, a protein that has no characterized relative and is dispensable for cell viability but required for mitochondrial translation. Expression of the Bacillus protein in yeast, modified to ensure mitochondrial targeting, partially complemented the phenotype of the pet112-1 mutation, demonstrating a high degree of evolutionary conservation for this as yet unidentified component of translation.     

Biochemical parameters in athletes before and after having run 160 kilometres

A number of biochemical and haematological parameters, including plasma electrolytes, parameters of hepatic and renal function, plasma enzymes and free fatty acids were measured in 13 athletes before and after a 160-km 24-hour race. The runners were divided into 2 groups: group A, who competed the 160 km within 24 hours and group B, who either ran for 24 hours, or who retired before completing the distance. Minimal changes were found in the plasma electrolyte patterns in either group, whereas blood urea and creatinine levels increased during the race. The plasma enzymes increased to varying extents, the greatest increases being in lactic dehydrogenase, aspartate aminotransferase and the skeletal muscle specific MM isoenzyme of creatinine phosphokinase. Total bilirubin also increased, but no conclusive evidence of hepatic decompensation was found. Plasma free fatty acids levels were very markedly raised in 12 of the runners, the highest increases occurring in group A. All runners ingested carbohydrate during the race and this probably explains why the blood glucose levels increased slightly but remained within normal limits in all the athletes at the end of the race.     

Phacotrabeculectomy with "smile" incision, punch, and single releasable suture

A 66-year-old female had ischemic heart disease due to left main lesion complicated with calcified ascending aorta, right pelvic carcinoma and liver cirrhosis. The combined operations with coronary artery bypass by left internal thoracic artery under the hypothermic ventricular fibrillation with cardiopulmonary bypass and right nephrectomy were performed successfully. Postoperatively Treadmill exercise test and scintigram revealed no ischemihc change. She is doing well. The aortocoronary bypass to left anterior descending artery using a left internal thoracic artery under hypothermic ventricular fibrillation with cardiopulmonary bypass might be one of surgical options for high risk patient.