A Novel INS Mutation in the C-Peptide Region Causing Hyperproinsulinemic Maturity Onset Diabetes of Youth Type 10.

Monogenetic diabetes mellitus (DM) describes a collection of single-gene diseases marked by hyperglycemia presenting in childhood or adulthood and the absence of immunological markers of type 1 DM. Mutations in the human insulin gene INS give rise to two separate clinical syndromes: permanent neonatal DM, type 4 (PNDM4), and maturity-onset diabetes of youth, type 10 (MODY10); the former presents shortly after birth and the latter presents in childhood and adulthood. We describe a 40-year-old man in a kindred with high prevalence of DM who presented with severe hyperglycemia but not ketoacidosis or hypertriglyceridemia. Twelve years after initial presentation, the patient had elevated proinsulin and normal plasma C-peptide when nearly euglycemic on treatment with insulin glargine. A novel INS mutation, Gln65Arg, within the C-peptide region was identified. The INS (p.Gln65Arg) mutation may cause MODY10 by disrupting proinsulin maturation.

Personal exposure monitoring of PM2.5 among US diplomats in Kathmandu during the COVID-19 lockdown, March to June 2020.

The 2019 Novel Coronavirus SARS-CoV 2 (COVID-191) pandemic has severely impacted global health, safety, economic development and diplomacy. The government of Nepal issued a lockdown order in the Kathmandu Valley for 80 days from 24 March to 11 June 2020. This paper reports associated changes in ambient PM2.5 measured at fixed-site monitors and changes in personal exposure to PM2.5 monitored by APT Minima by four American diplomats who completed monitoring before and during lockdown (24 h for each period per person, 192 person-hours in total). Time activities and use of home air pollution mitigation measures (use of room air cleaners (RACs), sealing of homes) were recorded by standardized diary. We compared PM2.5 exposure level by microenvironment (home (cooking), home (other activities), at work, commuting, other outdoor environment) in terms of averaged PM2.5 concentration and the contribution to cumulative personal exposure (the product of PM2.5 concentration and time spent in each microenvironment). Ambient PM2.5 measured at fixed-sites in the US Embassy and in Phora Durbar were 38.2% and 46.7% lower than during the corresponding period in 2017-2019. The mean concentration of PM2.5 to which US diplomats were exposed was very much lower than the concentrations of ambient levels measured at fixed site monitors in the city both before and during lockdown. Within-person comparisons suggest personal PM2.5 exposure was 50.0% to 76.7% lower during lockdown than before it. Time spent outdoors and cooking at home were large contributors to cumulative personal exposure. Low indoor levels of PM2.5 were achieved at work and home through use of RACs and measures to seal homes against the ingress of polluted air from outside. Our observations indicate the potential reduction in exposure to PM2.5 with large-scale changes to mainly fossil-fuel related emissions sources and through control of indoor environments and activity patterns.

Pattern of injury and illness during expedition-length adventure races.

OBJECTIVE: To describe injuries and illnesses treated during an expedition-length adventure race and combine the results with those from previous studies to identify common patterns of injury and illness during these events. METHODS: The 2003 Subaru Primal Quest Expedition Length Adventure Race was held in Lake Tahoe, CA, from September 5 to 14, 2003. Eighty teams of 4 individuals participated. During the event, medical volunteers providing on-site medical care recorded each medical encounter on a medical encounter form. This information was used to describe the injuries and illnesses treated and was combined with previous investigations to identify common patterns of injury and illness during these events. RESULTS: During the 10-day study period, 356 patient encounters and 406 injuries and illnesses were recorded. The most frequent reason to require on-site medical care was injury of the skin and soft tissue (70.4%), with blisters the single most common of these injuries (45.6%). Other reasons were orthopedic injury (14.8%), respiratory illness (3.7%), and heat illness or dehydration (3.7%). CONCLUSIONS: The results of this and previous studies demonstrate a common pattern of injury and illness that includes a high frequency of skin and soft tissue injury, especially blisters. Injuries and illnesses such as altitude illness, contact dermatitis, and respiratory illness varied considerably among events. The number of patient encounters per athlete is similar among the studies, providing an approximation of the number of medical encounters expected given the number of participants. These results should assist medical providers for future events; however, it is imperative to carefully review the individual event to best predict the frequency of injury and illness.

An English-language clinic-based literacy program is effective for a multilingual population.

OBJECTIVE: To assess the effectiveness of a clinic-based pediatric literacy intervention on a multilingual population. BACKGROUND: Clinic-based literacy interventions are effective among English- and Spanish-speaking children. No data exist for multilingual populations. SETTING: Pediatric clinic in an urban county hospital. Design/Methods. Reading practices of 2 cross-sectional groups were assessed by standardized interview before and after the intervention. The intervention consisted of waiting-room volunteers reading to children, literacy counseling, and gift of a children's book at each well-child visit from 6 months to 5 years. Outcomes were assessed separately for primary English-speaking and primary non-English-speaking families. RESULTS: The baseline (N=85) and postintervention (N=95) groups were similar with respect to child age and sex, parental education, and length of time in the United States. Fourteen languages were represented in total, the most common being English (41%), Somali (28%), Spanish (9%), Vietnamese (7%), Oromo (3%), and Tigrinyan (3%). Compared with baseline, postintervention respondents were more likely to report reading as a favorite activity for the child (10% vs 25%) and parent (18% vs 40%), to read to their child before bed at least weekly (45% vs 71%), and to possess over 10 children's books at home (49% vs 63%). Among English-speaking families (N=30 baseline, N=40 postintervention), weekly bedtime reading increased (63% to 93%), reading as child's favorite activity increased (7% vs 30%), and reading as the parent's favorite activity to do with child increased (33% vs 58%). The proportion of English-speaking families possessing over 10 books at home and those reading with their children at least weekly showed no difference between the baseline and postintervention groups. Among non-English-speaking families (N=55 baseline, N=55 postintervention), weekly bedtime reading increased (36% vs 56%), reading as the parent's favorite activity increased (11% vs 27%), and the number of families to possess >10 children's books in the home increased (31% vs 49%). Reading as child's favorite activity (13% vs 24%) and weekly book sharing (60% vs 76%) showed nonsignificant trends between the non-English-speaking baseline and postintervention groups. CONCLUSIONS: This clinic-based literacy intervention influences home literacy behavior in this multiethnic setting, in both English-speaking and non-English-speaking families. Although efforts should be made to make such programs more appropriate for linguistic minorities, non-English-speaking families do stand to benefit from English-language-oriented programs. literacy, Reach Out and Read, pediatrics, reading, child development.