Distal vacuolar myopathy in nephropathic cystinosis

Nephropathic cystinosis is a lysosomal storage disorder leading to renal failure by age 10 years. Prolonged patient survival following renal transplantation has allowed the development of previously unknown long-term complications. Muscle involvement has been reported in a single posttransplant cystinosis patient, but the range of clinical, electrophysiologic, and histologic features has not been fully described. Thirteen of 54 post–renal-transplant patients that we examined developed weakness and wasting in the small hand muscles, with or without facial weakness and dysphagia. Tendon reflexes were preserved and sensory examinations were normal. Electrophysiologic studies in 11 affected patients showed normal nerve conduction velocities and preserved sensory action potentials. The voluntary motor units in the affected distal muscles had reduced amplitude and brief duration, confirmed with quantitative electromyography in 4 patients. Biopsy of the severely affected abductor digiti minimi or extensor carpi radialis brevis muscles in 2 patients revealed marked fiber size variability, prominent acid phosphatase–positive vacuoles, and absence of fiber type grouping or inflammatory cells. Crystals of cystine were detected in perimysial cells but not within the muscle cell vacuoles. The muscle cystine content of clinically affected muscles was markedly elevated. We conclude that a distal vacuolar myopathy is a common late complication of untreated nephropathic cystinosis. Although the cause is unclear, the general lysosomal defect in this disease may also affect the lysosomes within muscle fibers.     

Attitudes toward the employment of mothers of preschoolers: Implications for child care

With increasing numbers of mothers entering the work force, including mothers of preschool age children, the policies that guide child care have yet to provide adequate services for large numbers of families. In this article, we investigate several possibilities for this delay in services by focusing on current attitudes toward maternal employment and certain factors that may influence these attitudes. We look at whether mothers and fathers differ on this issue and what, if any, demographic, situational, and values characteristics, may be influencing these attitudes. The implications for policy changes affecting child care services are discussed within this context.     

Identification of mutations contributing to the reduced virulence of a modified strain of respiratory syncytial virus

The nucleotide sequences of the genome of the RSS-2 wild type strain of respiratory syncytial (RS) virus, which is known to induce upper respiratory tract infection in adults, and that of the attenuated ts1C candidate vaccine derived from it by three cycles of mutagenesis and selection of temperature-sensitive (ts) mutants, have been determined. Comparison of the sequences has located the genetic changes which contribute to the reduced pathogenicity in adults of the candidate vaccine. Thirty-seven nucleotide changes distinguish the wild type and ts1C, 13 of which confer amino acid substitutions; no mutations are present in extragenic regions. Partial nucleotide sequencing of the genomes of the first stage ts mutant (ts1A) and the second stage ts mutant (ts1B), which were intermediates in the derivation of the third stage mutant ts1C, established that five mutations resulting in amino acid substitutions had been induced in the first cycle of mutagenesis, one in the second cycle, and seven in the third cycle. The unique mutation differentiating ts1B from ts1A substitutes an alanine for a threonine at residue 736 in the polymerase (L) protein. The occurrence of a mutation in ts1C inducing substitution of a phenylalanine for a serine residue at an adjacent site (731) suggests that mutations in this region of the polymerase can have significant attenuating effects. The data suggest also that a mutation in the F gene may contribute to the attenuated phenotype.     

Psychometric properties of self-monitoring of eating disorder urges among treatment seeking women: Ecological momentary assessment using a daily diary method

ObjectivesThe psychometric properties of an ecological momentary assessment (EMA) method used to evaluate eating disorder (ED) urges were examined.MethodsParticipants, 139 women who sought treatment for an ED, completed a daily diary measuring ED urges after each meal for a three week period at the start of treatment, and a measure of ED attitudes and behaviors pre- and post-treatment.ResultsThe construct validity of this method was indicated by a two factor solution representing binge eating urges and ED compensatory behavior urges, and by significant differences between ED diagnostic groups on ED urge type. Correlations of ED urges early in therapy with outcomes provided evidence for predictive validity. Correlations at pre-treatment between ED urges and ED attitudes and behaviors supported criterion validity. EMA of ED urges showed good retest stability.ConclusionsEMA of ED urges is a valid and reliable approach that is associated with ED symptom severity, and predictive of treatment outcome.     

Progress in assessing the quality of Australian nursing home care

Abstract: This paper critically examines the clarity, practicality, desirability and validity of the 31 outcome standards that the Commonwealth Government introduced to assess quality of care in Australian nursing homes. Key features of the Australian system in an international context are its focus on outcomes, the limited number of standards used, and the comparatively subjective nature of some standards. Directors of nursing from 410 nursing homes in the Brisbane, Sydney, Melbourne and Adelaide metropolitan areas were interviewed as part of the Nursing Home Regulation in Action Project. The overwhelming majority reported the standards as clear and desirable. In the minority of cases where problems were raised, practicability was the basis for concern. A factor analysis of the ratings given by standards monitoring teams to these 410 homes failed to demonstrate redundancy across standards or grouping of standards by objectives. Nevertheless, the standards were sufficiently highly interrelated to justify summing to produce an overall compliance score. This study shows that the 31 standards hold up well under scrutiny, both from the perspectives of key actors in the monitoring process, and from a psychometric point of view.