The role of MC1R gene variants and phenotypical features in predicting high nevus count.

Variants in the Melanocortin 1 Receptor (MC1R) gene have been associated with an increased risk of melanoma, but the role in nevus count is unclear. We investigated if specific MC1R gene variants or the number of MC1R gene variants and phenotypical features were associated with nevus count. A total of 494 participants of the 'Leiden skin cancer study' were included and the MC1R gene coding sequence was analysed by single-strand conformation polymorphism analysis followed by sequencing of unknown variants. The association between MC1R gene variants and nevus count and the association between age, gender and phenotypical features and nevus count were studied using the Chi-square test. Study of nine frequently occurring MC1R gene variants in participants without skin cancer (n = 203) showed that the 'r' Val60Leu variant was significantly associated with high nevus count (>50 nevi) (P = 0.017). This association was very strong among women (P < 0.001), but not present among men. Having one or two MC1R variants in general did not show a significant difference in the nevus count. Hair colour, skin type, eye colour and age were not significantly associated with nevus count, whereas gender showed a significant association (P = 0.008), with the highest nevus counts in female. The Val60Leu variant of the MC1R gene could be a promising candidate as an independent predictor of high nevus count, particularly in women. This information about the genetic makeup could promote personalized follow-up strategies and might help to prevent skin cancer in the future.

Home Ventilation in South African Children: Do Socioeconomic Factors Matter?

Poor socioeconomic circumstances and poverty are perceived to be barriers to successful home ventilation. Pediatric home ventilation has escalated rapidly in high-income countries but is underreported and underfunded in low-middle income countries. A retrospective chart review covering the past 20 years was carried out at the Red Cross War Memorial Children's Hospital in Cape Town, South Africa, a low-middle income country. Data collection included demographics, socioeconomic and family factors, clinical information, and ventilation-related information. Fifty-five children received home ventilation between 1994 and December 2015 from a median age of 3.5 years (range 0.4-17.6). Thirty-nine (71%) children received invasive ventilation and 16 (29%) children received mask-assisted ventilation. Most common primary diagnosis was a neuromuscular disease (60%). Twenty-six children (47%) were still on home ventilation in December 2015, 8 (15%) had been weaned off ventilation, and 21 (38%) had died. Median time between initiation of ventilation and discharge was 15 days (range 1-52) for mask-assisted ventilation and 88 days (8-991) for tracheostomy-assisted ventilation. Of the total 40 readmissions in the first year of home ventilation, 34 (85%) were emergency readmissions mainly necessitated by respiratory infections (n = 26; 65%). Despite a high prevalence of socioeconomic challenges, 89% of the children were successfully discharged on home ventilation. Main cause of death was acute infections (n = 11; 52%). Pediatric home ventilation in South Africa is feasible despite difficult socioeconomic circumstances. Survival outcome was comparable with that of high-income countries. However, a high level of psychosocial support and interventions is needed.