Follow‐Up Survey on Functionality of Nutrition Documentation and Ordering Nutrition Therapy in Currently Available Electronic Health Record Systems

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/141915/1/ncp0401.pd

Gpr37l1 Modulates Seizure Susceptibility: Evidence from Mouse Studies and Analyses of a Human Gpr37l1 Variant

Progressive myoclonus epilepsies (PMEs) are disorders characterized by myoclonic and generalized seizures with progressive neurological deterioration. While several genetic causes for PMEs have been identified, the underlying causes remain unknown for a substantial portion of cases. Here we describe several affected individuals from a large, consanguineous family presenting with a novel PME in which symptoms begin in adolescence and result in death by early adulthood. Whole exome analyses revealed that affected individuals have a homozygous variant in GPR37L1 (c.1047G \u3e T [Lys349Asn]), an orphan G protein-coupled receptor (GPCR) expressed predominantly in the brain. In vitro studies demonstrated that the K349N substitution in Gpr37L1 did not grossly alter receptor expression, surface trafficking or constitutive signaling in transfected cells. However, in vivo studies revealed that a complete loss of Gpr37L1 function in mice results in increased seizure susceptibility. Mice lacking the related receptor Gpr37 also exhibited an increase in seizure susceptibility, while genetic deletion of both receptors resulted in an even more dramatic increase in vulnerability to seizures. These findings provide evidence linking GPR37L1 and GPR37 to seizure etiology and demonstrate an association between a GPR37L1 variant and a novel progressive myoclonus epilepsy

Designing the climate observing system of the future

© The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Earth's Future 6 (2018): 80–102, doi:10.1002/2017EF000627.Climate observations are needed to address a large range of important societal issues including sea level rise, droughts, floods, extreme heat events, food security, and freshwater availability in the coming decades. Past, targeted investments in specific climate questions have resulted in tremendous improvements in issues important to human health, security, and infrastructure. However, the current climate observing system was not planned in a comprehensive, focused manner required to adequately address the full range of climate needs. A potential approach to planning the observing system of the future is presented in this article. First, this article proposes that priority be given to the most critical needs as identified within the World Climate Research Program as Grand Challenges. These currently include seven important topics: melting ice and global consequences; clouds, circulation and climate sensitivity; carbon feedbacks in the climate system; understanding and predicting weather and climate extremes; water for the food baskets of the world; regional sea-level change and coastal impacts; and near-term climate prediction. For each Grand Challenge, observations are needed for long-term monitoring, process studies and forecasting capabilities. Second, objective evaluations of proposed observing systems, including satellites, ground-based and in situ observations as well as potentially new, unidentified observational approaches, can quantify the ability to address these climate priorities. And third, investments in effective climate observations will be economically important as they will offer a magnified return on investment that justifies a far greater development of observations to serve society's needs

Race affects outcome among infants with intestinal failure.

ObjectiveIntestinal failure (IF) is a rare, devastating condition associated with significant morbidity and mortality. We sought to determine whether ethnic and racial differences were associated with patient survival and likelihood of receiving an intestinal transplant in a contemporary cohort of children with IF.MethodsThis was an analysis of a multicenter cohort study with data collected from chart review conducted by the Pediatric Intestinal Failure Consortium. Entry criteria included infants ≤ 12 months receiving parenteral nutrition (PN) for ≥ 60 continuous days and studied for at least 2 years. Outcomes included death and intestinal transplantation (ITx). Race and ethnicity were recorded as they were in the medical record. For purposes of statistical comparisons and regression modeling, categories of race were consolidated into "white" and "nonwhite" children.ResultsOf 272 subjects enrolled, 204 white and 46 nonwhite children were available for analysis. The 48-month cumulative incidence probability of death without ITx was 0.40 for nonwhite and 0.16 for white children (P < 0.001); the cumulative incidence probability of ITx was 0.07 for nonwhite versus 0.31 for white children (P = 0.003). The associations between race and outcomes remained after accounting for low birth weight, diagnosis, and being seen at a transplant center.ConclusionsRace is associated with death and receiving an ITx in a large cohort of children with IF. This study highlights the need to investigate reasons for this apparent racial disparity in outcome among children with IF

Regional variation exists in patient selection and treatment of abdominal aortic aneurysms.

OBJECTIVE: Significant regional variation in surgical rates has been identified following multiple surgical procedures. However, limited data have examined the regional variability in patient selection and treatment of abdominal aortic aneurysms (AAA). This study aims to evaluate regional variation in patient selection, perioperative management and operative approach to AAA. METHODS: All patients undergoing open or endovascular repair (EVAR) of an AAA in the Vascular Quality Initiative from 2009 to 2014 were identified. All regional groups were de-identified, and those with less than 100 open repairs were combined into a single region. RESULTS: 17,269 elective repairs (EVAR: 13,759, Open: 3,510) and 1,462 ruptured AAAs (EVAR:749, Open:713) were identified. There was significant regional variation in the use of EVAR for elective (Range: 66–88% P < .01) and ruptured AAA (40–80% P < .01). The median diameter for elective repair was similar among regions (EVAR: 5.4 cm, Open: 5.7 cm). There was wide variation in the treatment of small aneurysms in male patients (<5.5 cm) for EVAR (34–49% P < .01) and open repair (17–38% P < .01) and variation in the treatment of small aneurysms in female patients (<5 cm) for EVAR (14–32% P < .01), but not significant for open repair (6–24%). For elective cases, pre-operative aspirin (EVAR: 50–75% P <.01; Open 49–78% P < .01) and statin use (EVAR: 61–75% P < .01, Open: 56–80% P < .01) varied widely. Among elective cardiac patients preoperative management varied significantly including beta-blocker use (EVAR: 66–78% P < .01, Open: 69–88%, P = 0.01) and the frequency of stress-tests (EVAR: 33–64% P < .01, Open: 31–73% P < .01). Among open repairs for aneurysms extending at or beyond the juxta-renal segment, there was wide variation in the use of retroperitoneal exposures (7–70%, P < .01) and adjunctive renal protective measures (cold renal perfusion: 2–43% P < .01, mannitol: 47–92%, P < .01). CONCLUSION: Significant regional variation exists in patient selection, perioperative management, and operative approach for the repair of AAA. Definitive evidence is lacking in many aspects of operative care including the use of the retroperitoneal approach and renal protective strategies. However, this variation emphasizes the importance of research to determine best practice in the areas of greatest variation. Furthermore, where current clinical process measures exist and data is clear, such as the use of statin and antiplatelet agents, the high degree of variation should serve as an impetus for regional quality improvement projects