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The prevalence and correlates of pressure ulcers in terms of their number, severity, and anatomical location were studied in a community-based sample of 100 men and 40 women with spinal cord injury. Thirty-three percent (n = 46) presented with one or more ulcers of at least one stage I severity when visually examined. Twenty-one individuals had more than one ulcer, the maximum number of ulcers being seven. Of 87 ulcers for which severity ratings were available, 30 (34.5%) were stage I, 33 (37.9%) were stage II, and 24 (27.6%) were either stage III or IV. Individuals with an ulcer exhibited more paralysis and were more dependent on others in activities of daily living. A greater proportion of blacks had more severe ulcers (stages III and IV) than their white counterparts. Persons with more severe ulcers incurred their injury later in life, and had significantly lower mean scores on the Occupation and Mobility dimensions of the Craig Handicap Assessment and Reporting Technique. The findings suggest that factors governing initial development of a pressure ulcer differ in part from those responsible for an ulcer progressing in severity.

Depressive symptomatology was studied in a community-based sample of 100 men and 40 women with spinal cord injury. The mean for the Center for Epidemiologic Studies Depression Scale was higher than that reported previously for the general population, and the mean for women was higher than that for men. Findings from the Mobility dimension of the Craig Handicap Assessment and Reporting Technique (CHART) suggested that differences between men and women in degree of mobility within home and community partly mediate the gender difference in depressive symptomatology. Other CHART dimensions, Social Integration and Occupation, were inversely related with depression scores, although these dimensions did not differentiate men and women. A statistically significant relationship was not obtained between depression and disability, assessed by a self-report version of the Functional Independence Measure, or between depression and impairment, reflected by the ASIA Total Motor Index Score. Depression was not related with the presence of either pressure ulcers or presumptive evidence of urinary tract infection.

The level and correlates of the life satisfaction of persons with spinal cord injury who are residing in the community were investigated. One hundred men and 40 women were chosen randomly from a cohort of 640 persons with spinal cord injury residing in a 13-county area in southeast Texas. The mean Life Satisfaction Index-A (LSIA-A) was lower than reported previously for persons in the general population. The LSIA-A was not correlated significantly with chronologic variables, the ASIA Total Motor Index Score, or a self-report version of the Functional Independence Measure. The LSIA-A was associated positively with self-assessed health, perceived control, and social support, as well as with the Social Integration, Occupation, and Mobility dimensions of the Craig Handicap Assessment and Reporting Technique. From the standpoint of an augmented version of the World Health Organization model of disablement, the life satisfaction of persons with spinal cord injury appears to be influenced, albeit indirectly, by selective aspects of their social role performance (handicap), but not by their degree of impairment or disability.

The Transforming Growth Factor-beta (TGF beta) family of polypeptides elicits diverse biological actions on a wide range of cell types. There are known to be several isoforms of TGF beta coded for by different genes, with possibly differential expression and potencies. We have demonstrated that there is constitutive expression of three forms of transforming growth factor beta in adult human articular chondrocytes. The presence of 10% fetal calf serum in the culture medium may influence expression. The addition of transforming growth factor beta or interleukin 1 beta to the culture medium does not appear to consistently influence the expression of TGF beta by the cells.

Listeria monocytogenes peritonitis developed in a 67-year-old man on continuous ambulatory peritoneal dialysis following a catered luncheon. Alcoholic liver disease was a predisposing factor. L. monocytogenes multiplies at 4 degrees C. It is often present in imported soft cheese, less often in chicken and other refrigerated food. Listeria peritonitis has not been previously reported in Australia.

We have made a detailed study of a deletion hot spot in the distal half of the Duchenne muscular dystrophy (DMD) gene, using intragenic probe P20 (DXS269), isolated by a hybrid cell-mediated cloning procedure. P20 detects 16% deletions in patients suffering from either DMD or Becker muscular dystrophy (BMD), in sharp contrast to the adjacent intragenic markers JBir (7%) and J66 (less than 1%), mapping respectively 200-320 kb proximal and 380-500 kb distal to P20. Of the P20 deletions, 30% start within a region of 25-40 kb, the majority extending distally. P20 was confirmed to map internal to a distal intron of the DMD gene. This region was recently shown by both cDNA analysis (M. Koenig et al., 1987; Cell 50: 509-517), and field inversion electrophoresis studies (J.T. Den Dunnen et al., 1987, Nature (London) 329: 640-642) to be specifically prone to deletions. In addition, P20 detects MspI and EcoRV RFLPs, informative in 48% of the carrier females. Together, these properties make P20 useful for carrier detection, prenatal diagnosis, and the study of deletion induction in both DMD and BMD.

The DNA of 33 patients diagnosed as suffering from Becker muscular dystrophy (BMD) has been probed with cloned DNA sequences from Xp21, known to reveal DNA deletions in patients suffering from the more severe Duchenne muscular dystrophy (DMD). Two BMD cases showed clear deletions. A third case gave aberrant band sizes, which further analysis showed to be caused by a small deletion. This suggests that deletions in DXS164 occur approximately as frequently in BMD as they do in DMD. Of the two cases showing large deletions, one is at the severe end of the Becker clinical spectrum, whilst the other is a classical Becker-type dystrophy. The fact that loci defined by probes commonly deleted in classical DMD patients are also deleted in BMD patients of varying severity is strong additional evidence that these disorders are allelic, and further justifies the use of probes with defined linkage relationships to DMD also being used for counselling in BMD families.

Duchenne muscular dystrophy (DMD) and its less severe form Becker muscular dystrophy (BMD) are allelic disorders. It has been suggested that in the mutations involving BMD, the translational reading frame of messenger RNA is maintained and a smaller, though partially functional, protein is produced. In order to test this, the exon-intron boundaries of the first ten exons of the DMD gene were determined, and 29 patients were analyzed. In a number of BMD patients (mild and severe BMD), the reading frame of messenger RNA was not maintained. On the basis of these findings, a model for reinitiation from an internal start codon is suggested.

Rous sarcoma virus (RSV) proviruses integrated within the DNA of transformed rat cells frequently display duplications of variable segments of proviral DNA upstream of an intact provirus. The rearrangement in the A11 clone of transformed rat cells consists of a partial duplication of both viral and cellular DNA segments whose origin is a region of approximately 4 kb encompassing the 3' virus-cell junction. Transposition of this DNA appears to have occurred at or after virus integration by a mechanism involving at least two recombination events. In every case examined, including A11, the transcriptional organization of the original provirus has been conserved and viral RNA expression appears to occur normally. The frequency of such rearranged proviruses in the DNA of transformed rat cells suggests that upstream rearrangements may influence provirus expression.

DNA studies were undertaken following 53 requests from pregnant women at risk for Duchenne and Becker muscular dystrophy, including 32 in whom there was only 1 affected individual in the family (sporadic cases). The DNA restriction fragment length polymorphisms were informative in 51 of the 53 cases. In 10 of 25 pregnancies with male fetuses the risk to the fetus was reduced to 5% or less. Referral of possible carriers before onset of pregnancy is strongly advisable on both medical and economic grounds. The banking of DNA from affected individuals for future use in the estimation of risks to their relatives should be encouraged.

A DNA deletion in a patient with Becker muscular dystrophy (BMD) has been delineated by restriction endonuclease mapping. The deletion is unusually small, removing six kilobases (kb) of DNA distal to pERT 87-1 (DXS164). This region has previously been shown to contain an exon of a candidate gene which, when defective, causes Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy. Removal of this exon and surrounding DNA is apparently sufficient, in this case, to cause a BMD phenotype. The occurrence of this deletion in DXS164 would appear to confirm that this region is part of the BMD locus. Many DMD patients have deletions in and around this region, adding further evidence for the allelic nature of the two disorders. This fortuitous deletion may identify a functionally important domain of the protein product in terms of the severity of phenotype manifested.

Two deletions detected within the Duchenne/Becker muscular dystrophy (D/BMD) gene of normal male members of two DMD families were both independent, nonpathogenic deletions located in a large intron in the XJ region (DXS206) toward the 5' end of the gene [Burghes et al., 1987]. Investigation of the surrounding exons revealed no exon deletions or duplications. The simplest interpretation of these observations is that the deletions are entirely intronic and do not cause perturbation of the gene product, resulting in a normal phenotype. The disease phenotypes in the affected males in these two families are caused by exon deletions remote from this intron. Some caution is therefore indicated in using genomic deletions for clinical prediction.

To gain further information relating to the frequency, position and size of DNA deletions in the Duchenne/Becker muscular dystrophy (D/BMD) gene region, and to detect any correlation of these deletions with phenotype, a large clinic-based population of DMD and BMD patients has been investigated using 13 cloned intragenic sequences. Our of 263 separate patients studied, 75 showed a deletion of at least one locus (28.5%). These represented 25.6% (55/215) of DMD patients and 41.7% (20/48) of BMD patients, suggesting that the milder phenotype is more often likely to be due to a deletion. The deletions range from 6 kilobases (kb) to greater than 1000 kb in size. The distribution of deletions across the gene region shows at least one region (detected by P20) prone to deletion mutations in both DMD and BMD patients. There is no simple correlation of position or extent of deletions with DMD or BMD, although deletion of a specific region towards the 5' end of the gene may be more often associated with a milder phenotype. Apparently similar deletions can give rise to phenotypes differing significantly in severity, presumably indicating further complexities in the molecular or cellular pathology.