Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine

Variants in ACTA1, which encodes α-skeletal actin, cause several congenital myopathies, most commonly nemaline myopathy. Autosomal recessive variants comprise approximately 10% of ACTA1 myopathy. All recessive variants reported to date have resulted in loss of skeletal α-actin expression from muscle and severe weakness from birth. Targeted next-generation sequencing in two brothers with congenital muscular dystrophy with rigid spine revealed homozygous missense variants in ACTA1. Skeletal α-actin expression was preserved in these patients. This report expands the clinical and histological phenotype of ACTA1 disease to include congenital muscular dystrophy with rigid spine and dystrophic features on muscle biopsy. This represents a new class of recessive ACTA1 variants, which do not abolish protein expression.     

Characteristics of rib fractures in young abused children

Background

The presumed mechanism of rib fractures in abuse is violent grasping of the torso causing anterior–posterior chest compression. We hypothesized an asymmetrical distribution of rib fractures in abused infants given the greater incidence of right-hand dominance within the general population.

Objective

The objective of this study was to characterize rib fractures in abused children, particularly sidedness; additionally, we evaluated the sidedness of other abusive skeletal fractures.

Materials and methods

We reviewed medical records from abused children (0–18 months old) with rib fractures. We also retrospectively reviewed their radiographs to determine characteristics of rib fractures (number, side, rib region, level, acuity) and other skeletal fractures (number, side, location), as well as differences in the distribution of rib and other skeletal fractures.

Results

A total of 360 rib fractures were identified on 273 individual ribs involving 78 abused children. Sixty-three children (81%) had multiple rib fractures. There was a significantly greater number of left-side rib fractures (67%) than right-side fractures (P<0.001). Fractures were most often identified in the posterior and lateral regions and mid level of the ribcage (Ribs 5 through 8). Fifty-four percent of subjects had other skeletal fractures; these non-rib fractures were also predominantly on the left side (P=0.006).

Conclusion

In our study of abused children, there was a higher incidence of rib fractures in the posterior, lateral and mid-level locations. Additionally, we found a predominance of left-side rib and other skeletal fractures. Further research is needed to understand whether factors such as perpetrator handedness are associated with these unequal distributions of fractures in abused children.

     

Walk-in clinics: patient expectations and family physician availability

BACKGROUND: For over two decades, there has been controversy over the role and impact of walk-in clinics on primary health care. This study evaluates the providers' perspective on this topic. OBJECTIVE: The purpose of this qualitative study was to explore the perceptions and experiences of family physicians, emergency physicians and walk-in clinic physicians regarding the impact of walk-in clinics on Ontario's health care system. METHODS: The qualitative method of focus groups was used in this study. There were nine focus groups, each consisting of 4-9 participants, with a total of 63 physicians. The different practitioners (family physicians, emergency physicians, walk-in clinic physicians) attended separate focus groups. The focus groups explored the physicians' perceptions and experiences regarding the role and impact of walk-in clinics on Ontario's health care system. The focus groups were audio-taped and transcribed verbatim. The qualitative data analysis program NUD*IST was used to organize the data during the sequential thematic analysis. RESULTS: Factors contributing to the growth and evolution of walk-in clinics in Ontario were identified. These included a perceived increase in patients' expectations for convenient health care and a perceived decrease in the availability of family physicians. These factors created a gap in primary care which was filled by walk-in clinics. CONCLUSIONS: Participants' recommendations for narrowing this gap included an increase in both physician and patient accountability and changes to the current structure of primary health care delivery. These recommendations would either integrate walk-in clinics into the health care system or result in their elimination.     

Sizing up HEDIS: experts take system's measure

NCQA's performance measurement system is well established in the industry. But is it really addressing the questions that matter? In this article, industry experts discuss how HEDIS has made its mark.     

Calming the IT seas. New alliance to guide health care toward technology standards

Thirty-five founding members have launched the National Alliance for Health Information Technology to develop voluntary interoperability standards for IT. In the process, the alliance hopes to encourage the health care industry to pick up the pace in adopting new technologies that will improve quality and operating performance.     

Awareness in early-stage Alzheimer's disease: relationship to outcome of cognitive rehabilitation

Awareness of difficulties may have an important impact on functioning and response to intervention in early-stage Alzheimer's disease (AD). Clinical reports and retrospective studies suggest an association, but this has not previously been tested in a prospective study. Using a new measure of awareness, the Memory Awareness Rating Scale (MARS), which was designed to take account of methodological limitations identified in a review of previous studies, the present study explored the relationship between awareness of difficulties and outcome of a cognitive rehabilitation (CR) intervention in 12 participants with a diagnosis of early-stage Alzheimer's disease. The relationship between awareness and mood, behaviour and executive function was also assessed. The results provide the first demonstration in a prospective study that higher levels of awareness are related to better CR outcomes. Awareness was associated with depression and reported behaviour problems, but not with performance on tests of executive function. These results suggest that variations in level of awareness in early-stage AD are influenced by psychological factors, and that explanatory models need to take these factors into account. Awareness of difficulties may serve as a useful predictor of the likely effectiveness of CR, andthis may assist clinicians in selecting appropriate interventions for individuals with early-stage AD.