Treatment of AICA ribosiduria by suppression of de novo purine synthesis.

AICA ribosiduria is an ultra-rare disorder of de novo purine biosynthesis associated with developmental delay of varying severity, seizures, and varying degrees of visual impairment due to chorioretinal atrophy. Caused by biallelic pathogenic variants in ATIC, accumulation of AICA-riboside is the biochemical hallmark and presumed pathomechanism of the condition. In this study, we report the case of a teenage patient compound-heterozygous for the variants c.1277 A > G (p.K426R) and c.642G > C (p.Q214H) in ATIC, with the latter not previously reported. Excessive secretion of AICA-riboside and succinyladenosine was significantly reduced following the introduction of a purine-enriched diet. By suppressing de novo purine biosynthesis in favour of purine salvage, exogenous purine substitution represents a promising treatment approach for AICA ribosiduria. SYNOPSIS: Suppression of de novo purine biosynthesis by increased exogeneous purine supply leads to decreased accumulation of AICA-riboside and succinyl-adenosine and thus is a promising treatment approach for AICA ribosiduria.

Community-associated Methicillin-Resistant Staphylococcus aureus Infection Rates and Management among Student-Athletes.

PURPOSE: Although community-associated methicillin-resistant Staphylococcus aureus (CA-MRSA) infections have reduced among inpatient populations, the incidence in athletics continues to range greatly dependent on the sport. Over the 2015 to 2016 and 2016 to 2017 school years, we assessed the annual CA-MRSA incidence, sport risk, referral practices, and management protocols or interventions among high school and intercollegiate athletics. METHODS: This study targeted high school and intercollegiate athletic programs across the United States. For the 2015 to 2016 study, 269 athletic trainers completed a one-time questionnaire. In the 2016 to 2017 study, 217 athletic trainers reported data bimonthly during the academic year. Each questionnaire targeted demographic information, physician-confirmed CA-MRSA infection occurrence, and management of CA-MRSA infections and bacterial skin lesions. RESULTS: The CA-MRSA infection incidence was 26.8 per 10,000 athletes (95% confidence interval [CI], 24-30) in 2015-2016 and 20.3 per 10,000 athletes (95% CI, 18-23) in 2016-2017. The CA-MRSA infection incidence was high in wrestling and football compared to the general student-athlete population. During the 2015 to 2016 study, the wrestling incidence rate was 248.3 per 10,000 (95% CI, 204-302); the football incidence rate was 71.0 per 10,000 (95% CI, 60-85). In the 2016 to 2017 study, the wrestling incidence rate was 100.0 per 10,000 (95% CI, 66-151); the football incidence rate was 81.8 per 10,000 (95% CI, 68-99). At least 23% of respondents denoted at least one physician-confirmed CA-MRSA infection within their populations (2015-2016, 39%, n = 105; 2016-2017, 23.5%, n = 51). In the 2015 to 2016 survey, respondents indicated that athlete education and environmental decontamination were the most used management steps (51.8%, n = 582). CONCLUSIONS: Despite increased awareness of CA-MRSA, more educational efforts focusing on best practices and education are needed, especially with athletes and the medical community involved in their care.

Smarter Stormwater Systems.

Existing stormwater systems require significant investments to meet challenges imposed by climate change, rapid urbanization, and evolving regulations. There is an unprecedented opportunity to improve urban water quality by equipping stormwater systems with low-cost sensors and controllers. This will transform their operation from static to adaptive, permitting them to be instantly "redesigned" to respond to individual storms and evolving land uses.

CA-MRSA Infection Incidence and Care in High School and Intercollegiate Athletics.

PURPOSE: Position papers offer solutions to manage community-associated methicillin-resistant Staphylococcus aureus (CA-MRSA), yet few studies establish the infection rate, management protocols, and referral practices among student-athletes. Over the 2012-2013 and 2013-2014 school years, we assessed the annual CA-MRSA infection incidence, sport risk, referral practices, and management steps among high school and intercollegiate athletics. METHODS: This study targeted high school and intercollegiate athletic programs in the Northeastern United States. For the 2012-2013 study, 156 athletic trainers completed a one-time questionnaire. In the 2013-2014 study, 87 athletic trainers reported data bimonthly during the academic year. Each questionnaire targeted demographic information, physician-confirmed CA-MRSA infection occurrence, and management of CA-MRSA infections and bacterial skin lesions. RESULTS: The CA-MRSA infection incidence was 15.5 per 10,000 athletes (95% confidence interval [CI], 13-19) in 2012-2013 and 16.3 per 10,000 athletes (95% CI, 13-21) in 2013-2014. The CA-MRSA infection incidence was higher in wrestling and football compared to the general student-athlete population. During the 2012-2013 study, the wrestling incidence rate was 90.2 per 10,000 (95% CI, 62-132); the football incidence rate was 42.3 per 10,000 (95% CI, 31-59). In the 2013-2014 study, the wrestling incidence rate was 89.0 per 10,000 (95% CI, 50-158); the football incidence rate was 61.4 per 10,000 (95% CI, 42-90). In both studies, primary care and general physicians received over 60% (2012-2013: 60.5%, n = 133; 2013-2014: 66.5%, n = 125) of referrals. In the 2012-2013 study, respondents indicated that student-athlete isolation and setting decontamination were common management steps used (58.1%, n = 306). CONCLUSIONS: The incidence of CA-MRSA infections among student-athletes remains high. Therefore, it is critical that sports medicine providers continually reassess management protocols and best practices.