Rare multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) – the clinical and molecular summary

Multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) is a rare autosomal recessive genetic disease belonging to glycosylphosphatidylinositols biosynthesis defects (GPIBD), a group of recessive disorders characterized by intellectual disability, hypotonia, and seizures. Glycosylphosphatidylinositols (GPIs) are glycolipids that anchor and remodel cell proteins. These processes are highly conserved and fundamental in the metabolism of all eukaryotes, including humans. Here, we have reported a male patient presenting with hypotonia, intellectual disability, and epilepsy, who underwent whole exome sequencing (WES). The analysis revealed the presence of two deleterious variants in PIGN that encodes GPI ethanolamine phosphate transferase-1 – one novel (c.1247_1251delAAGTG; p.Glu416Glyfs*22), and one that has been previously reported in the medical literature (c.1434+5G>A) resulting in MCAHS1. The detailed clinical assessment followed by the medical literature review also pointed out transient macrosomia and unreported in MCAHS1 advanced bone age and postnatal tall stature. These symptoms suggest that MCAHS1 shares a phenotypic overlap with disorders associated with overgrowth. To conclude, our case report and summary of the medical literature may be helpful for clinicians and geneticists who diagnose patients presenting with hypotonia accompanied by tall stature, advanced bone age, and transient macrosomia.     

Public satisfaction with health care system in 30 countries: The effects of individual characteristics and social contexts

In this article, the associations among individual socio-economic characteristics, the institutional set-up of health care systems, and satisfaction with the health care system are investigated. Data from the 2011 International Social Survey Program (30 countries, 34,212 respondents) is used. Multilevel analyses across countries have shown how the state financing context affects satisfaction at the individual level. Consistent with previous research, at individual level, personal experiences with medical providers, age, gender as well as income are significant predictors of satisfaction with the health care system. At the country level, real input indicators such as density of physicians and density of hospital beds are negative predictors of satisfaction with the health care system whereas the percentage of total health expenditures comprised by public sources is a positive predictor of satisfaction with the health care system. However, findings from the cross-level interactions indicate that the negative effect of lower income is more prominent in predominantly publicly-funded health care systems. Specifically, in primarily publicly-funded health care systems, the model-predicted probability of satisfaction with the health care system is higher, but the gap in the probability of satisfaction with the health care system between individuals with lower income and those with higher income is greater than that in mostly privately-financed health care systems. The findings in this study suggest that the future direction of health care system reform should be focused on balancing the distribution of resources between private and public sectors.     

The effects of bright light treatment on subjective and objective sleepiness during three consecutive night shifts among hospital nurses – a counter-balanced placebo-controlled crossover study

Objectives:The objective was to investigate effects of timed bright light treatment on subjective and objective measures of sleepiness during three consecutive night shifts among hospital nurses.Methods:Thirty-five nurses were exposed to bright light (10,000 lux) and red dim light (100 lux) during three consecutive night shifts in a counter-balanced crossover trial lasting nine days, which included three days before and three days after the three night shifts. Light exposure for 30 minutes was scheduled between 02:00–03:00 hours on night 1, and thereafter delayed by one hour per night in order to delay the circadian rhythm. Subjective sleepiness was measured daily (heavy eyelids, reduced performance) and every second hour while awake (Karolinska Sleepiness Scale, KSS). Objective sleepiness (Psychomotor Vigilance Task, PVT) was measured at 05:00 hours during each night shift. Beyond nocturnal light exposure on the night shifts, no behavioral restrictions or recommendations were given at or off work.Results:Bright light treatment significantly reduced heavy eyelids during night shifts. However, results on KSS and PVT were unaffected by bright light. There were no differences in subjective sleepiness during the three days following the night shifts.Conclusions:This bright light treatment protocol did not convincingly reduce sleepiness among nurses during three consecutive night shifts. Nor did bright light impede the readaptation back to a day-oriented rhythm following the night shift period. Too few consecutive night shifts, inappropriate timing of light, and possible use of other countermeasures are among the explanations for the limited effects of bright light in the present study.