Autosomal recessive distal dystrophy

We describe five new cases of autosomal recessive distal dystrophy (Miyoshi myopathy) and emphasize the distinctive clinical and laboratory features of this unusual muscular dystrophy. Symptoms began at age 15 to 25, the gastrocnemius muscles were selectively involved, and creatine kinase was elevated more than 10 times normal. The EMG showed abundant brief motor units with numerous fibrillations. Dystrophic features without vacuoles were best seen in the biceps femoris muscle. Asymptomatic creatine kinase elevation was present years prior to the development of weakness. The disorder appears to be inherited in an autosomal recessive pattern. Miyoshi myopathy can be distinguished from other distal muscular dystrophies. We propose a new classification for the distal muscular dystrophies.     

West Nile virus quantification in feces of experimentally infected American and fish crows.

To better understand the potential environmental health risk presented by West Nile virus (WNV)-contaminated feces, we quantified the amount of WNV present in the feces of experimentally infected American crows (Corvus brachyrhynchos) and fish crows (Corvus ossifragus). Peak fecal titers ranged from 10(3.5) to 10(8.8) plaque-forming units (PFU)/g for 10 American crows and from 10(2.3) to 10(6.4) PFU/g for 10 fish crows. The presence of infectious WNV in bird feces indicates a potential for direct transmission of WNV. Thus, handlers of sick or dead birds should take appropriate precautions to avoid exposure to fecal material.     

Cross-calibration of dual-energy X-ray densitometers for a large, multi-center genetic study of osteoporosis

Osteoporosis is a common disease with a strong genetic component characterized by reduced bone mass and an increased risk of fragility fractures. Bone mineral density (BMD) is the most important determinant of osteoporotic fracture risk, but the genes responsible for BMD regulation and fracture are incompletely defined. To enable multi-center studies to examine the genetic influences on BMD there is a requirement to standardize measurements across different manufacturers of bone densitometers, different versions of machines and different normative ranges. This paper describes a method developed to allow near-identical subjects with low age-adjusted BMD (based on Z-scores) to be recruited in 17 centers using 27 different densitometers. Cross-calibration was based on measurements using a European spine phantom circulated to all centers and measured ten times on each individual machine. From theses values an individual exponential curve, based on nominal versus observed BMD, was derived for each machine. As expected, there were large and significant variations in nominal BMD values, not only between scanners from different manufacturers but also between different versions of scanners from the same manufacturer. Hologic scanners tended to underestimate the nominal BMD, while Lunar scanners overestimated the value. Norland scanners gave mixed values over estimating BMD at the lower nominal value (0.5 g/cm²) while underestimating the value at the higher value (1.5 g/cm²). The validity of the exponential equations was tested using hip and spine measurements on 991 non-proband women from a familial osteoporosis study (FAMOS). After cross-calibration there was a considerable reduction in variation between machines. This observation, coupled with the absence of a similar reduction in variation attributable to a linear regression on age, demonstrated the validity of the cross-calibration approach. Use of the cross-calibration curves along with a standard normative range (in the case of this study, the Hologic normative range) allowed age-specific Z-scores to be used as an inclusion criterion in this genetic study, a method that will be useful for other trials where age-specific BMD inclusion criteria are required.     

Brain and spinal cord hemorrhage in long-term survivors of malignant pediatric brain tumors: a possible late effect of therapy

Three children with malignant primary CNS tumors treated with craniospinal radiotherapy developed intraparenchymal hemorrhages a median of 5 years following therapy in sites distant from the primary tumor. Radical surgical procedures disclosed fresh and old hematoma, gliosis, and necrosis in all 3 patients and an aggregation of abnormal microscopic blood vessels in two. No tumor was found. All 3 patients remain in long-term (greater than 10 years) continuous remission.     

Lumbar spondylolysis and spondylolisthesis in college football players. A prospective study

A prospective study was done on Indiana University freshman football players to determine if the incidence of lumbar spondylolysis and spondylolisthesis followed the pattern of previous studies. Using x-ray film evaluation, 145 freshman players were followed through their careers from 1978 to 1983. As in previous studies, a higher percentage (15.2%) of the defect was found than exists in the general population. However, only 2.4% of these players developed the problem in college, a much lower figure than previously found. Affected team members played a variety of positions. In addition to spondylolysis, some other problems, such as spina bifida occulta, were found. Theories on the cause of spondylolysis and spondylolisthesis are reviewed, and preventive suggestions such as more careful training and weight lifting are presented.     

Assessment of an interactive computer-based patient prenatal genetic screening and testing education tool.

The Enhancing Patient Prenatal Education study tested the feasibility and educational impact of an interactive program for patient prenatal genetic screening and testing education. Patients at two private practices and one public health clinic participated (N = 207). The program collected knowledge and measures of anxiety before and after use of the tool. Time in various prenatal visit activities was collected prior to and after the introduction of the education tool. Providers completed an assessment of their experiences with patients who had used the program. Results indicate that patient knowledge significantly increased from pre to post (p = .0001) with no increase in anxiety (p = .31). Time in clinic activities, including overall visit time, increased. A majority of providers indicated that the program disrupted clinic flow. This assessment suggests that the program increases patient knowledge and does not increase patient anxiety. However, challenges remain to using this program in a clinic setting.     

Effects of neurosurgical titanium mesh on radiation dose

The purpose of this study was to determine the dosimetric impact of a neurosurgical titanium mesh in patients treated with 6- and 18-MV photon beams. The effects of a 0.4-mm-thick titanium mesh on the dose profile at 3 regions within a solid water phantom were measured using extended dose range-2 (EDR2) film for 6- and 18-MV photon beams. All measurements were performed with the titanium mesh placed at a depth of 1.5 cm in the phantom. Films were exposed immediately above the mesh, immediately below the mesh, and at a depth of 5 cm from the surface of the phantom. The films were scanned using a scanning densitometer. In the region directly above the titanium mesh, there was an increase in dose of 7.1% for 6-MV photons and 4.9% for 18-MV photons. Directly below the titanium mesh, there was an average decrease in dose of 1.5% for 6-MV photons and an increase of 1.0% for 18-MV photons. At 5-cm depth, for 6- and 18-MV photons, there was a decrease in dose of 2.2% and 0.6%, respectively. We concluded that for cranial irradiation with high-energy photons, the dosimetric impact of a 0.4-mm titanium mesh is small and does not require modification in treatment parameters.