Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia.

BACKGROUND: Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons. The cause of posteriorly placed PNH is not well characterised and we present a case that provides insights into the cause of posterior PNH. CASE PRESENTATION: We report a fetus with extensive posterior PNH in association with biallelic variants in LAMC3. LAMC3 mutations have previously been shown to cause polymicrogyria and pachygyria in the occipital cortex, but not PNH. The occipital location of PNH in our case and the proposed function of LAMC3 in cortical development suggest that the identified LAMC3 variants may be causal of PNH in this fetus. CONCLUSION: We hypothesise that this finding extends the cortical phenotype associated with LAMC3 and provides valuable insight into genetic cause of posterior PNH.

Exploring the barriers and enablers to attendance at rural cardiac rehabilitation programs.

OBJECTIVE: The objectives of this study were to: (i) identify local barriers and enablers to the uptake of hospital-based cardiac rehabilitation (CR) programs, and (ii) identify preferred alternatives for the delivery of CR. DESIGN: A questionnaire administered by local CR coordinators and focus groups facilitated by the research team. SETTING: Six regional hospitals in south-west Victoria offering hospital-based CR programs. PARTICIPANTS: Patients and their carers referred to and eligible for local CR programs; health professionals working within local CR programs. MAIN OUTCOMES MEASURES: CR attendees and decliners demographics, patient and health professional perceived factors which contribute to enabling hospital-based CR attendance, patient and health professional perceived barriers to CR attendance, and receptiveness and preferences for alternative modes of CR delivery. RESULTS: This study identified distance to travel to hospital-based CR programs the only statistically significant factor in determining uptake of CR. Easy access to transport (63%) and to a lesser extent family support (49%) and work flexibility (43%) were the primary enablers to attendance. Of the 97 study participants, 38% were receptive to alternative CR methods such as programs in outlying communities, evening facility-based programs, home and GP based programs, telephone support and a patient manual/workbook. CONCLUSIONS: The results of this study provide valuable information for designing strategies to increase utilisation and improve patient acceptability of existing hospital-based CR programs. It provides a basis for pilot testing alternative modes of CR program delivery for cardiac patients in rural areas unable to access hospital-based CR.