Congenital myasthenic syndromes (CMS) are genetically determined heterogenous disorders of neuromuscular transmission. We report a rare mutation of COLQ causing CMS in an Asian man that remarkably improved with fluoxetine. A 51-year-old Sri Lankan man with slowly progressive fatigable muscle weakness since eight years of age, presented with type 2 respiratory failure that required mechanical ventilation in the acute crisis and subsequent home-based non-invasive ventilation. His birth and family histories were unremarkable. On examination, he had limb girdle type of muscle weakness with fatigability and normal tendon reflexes with no ocular or bulbar involvement. DNA sequencing revealed a pathogenic homozygous mutation in COLQ gene ENST00000383788.10exon16c.1228C>Tp.R410W, the first report in an Asian. Treatment with fluoxetine resulted in remarkable improvement and regain of muscle power and independence from assisted ventilation.
Trauma care per Advanced Trauma Life Support addresses immediate threats to life. Occasionally, delays in injury diagnosis occur. Delayed diagnosis of injury (DDI) is a common quality indicator in trauma care, and pediatric DDI data are sparse.
Our aim was to describe the DDI rate in a severely injured pediatric trauma population and identify any factors associated with DDI in the pediatric population.
A prospective cohort of trauma activations in 0- to 16-year-old patients admitted to a pediatric level I trauma center over 12months with injuries prospectively recorded were followed during admission to identify DDI.
A total of 170 trauma activations were enrolled. RRx-001 research buy Twelve patients had type I DDI (7.1%), 15 patients had type II DDI (8.8%), and 5 patients had both type I and type II DDI (2.9%). DDI patients had twice as many injuries and higher Injury Severity Scores (ISS) as non-DDI patients. DDI patients were more likely to require intensive care unit (ICU) admission, longer hospital stay, and ventilatlity improvement.
Coronavirus Disease 2019 is characterized by a spectrum of clinical severity. This study aimed to develop a laboratory score system to identify high-risk individuals, to validate this score in a separate cohort, and to test its accuracy in the prediction of in-hospital mortality.
In this cohort study, biological data from 330 SARS-CoV-2 infected patients were used to develop a risk score to predict progression toward severity. In a second stage, data from 240 additional COVID-19 patients were used to validate this score. Accuracy of the score was measured by the area under the receiver operating characteristic curve (AUC).
In the development cohort, a step-wise decrease in the average survival duration was noted with the increment of the risk score (p
<0.0001). A similar trend was confirmed when analyzing this association in the validation cohort (p<0.0001). The AUC was 0.74 [0.66-0.82] and 0.90 [0.87-0.94], p<0.0001, respectively for severity and mortality prediction.
This study provides a useful risk score based on biological routine parameters assessed at the time of admission, which has proven its effectiveness in predicting both severity and short-term mortality of COVID-19. Improved predictive scores may be generated by including other clinical and radiological features.
This study provides a useful risk score based on biological routine parameters assessed at the time of admission, which has proven its effectiveness in predicting both severity and short-term mortality of COVID-19. Improved predictive scores may be generated by including other clinical and radiological features.Recognizing the current opioid crisis among justice-involved individuals and the need to intervene at the intersection of justice and community health, the JCOIN TCU hub study explores outcomes associated with a multi-level hybrid implementation approach. The study capitalizes on facilitated collaboration, training, and cross-system data sharing to leverage improvements in criminal justice (CJ) and community behavioral health (CBH) interagency collaboration. The goal is to improve local community public health and safety outcomes for reentering justice-involved individuals who have a history of (or are at risk for) using opioids. The study compares two implementation strategies one (vertical) in which all units in a community are trained and begin the program simultaneously and another (horizontal) in which one lead-off unit in the community is trained as a prototype of the program, the prototype is tested and refined, and then the lead-off unit helps to train other units within the community. Specific aims as 2 robust methodologies (stepped wedge and cluster randomized trial), and plans to include 18 research performance sites (communities) located in Texas, New Mexico, and Illinois. The study will contribute to the JCOIN network's effort to establish a national consortium of investigators examining promising strategies to enhance the capabilities and capacity of the justice system to more effectively address the opioid epidemic.In response to the opioid crisis in New York State (NYS), the Unified Court System developed a new treatment court model-the opioid intervention court-designed around 10 Essential Elements of practice to address the flaws of existing drug courts in handling those with opioid addiction via broader inclusion criteria, rapid screening, and linkage to medications to treat opioid use disorder (MOUD). The new court model is now being rolled out statewide yet, given the innovation of the opioid court, the exact barriers to implementation in different counties with a range of resources are largely unknown. We describe a study protocol for the development and efficacy-test of a new implementation intervention (Opioid Court REACH; Research on Evidence-Based Approaches to Court Health) that will allow the opioid court, as framed by the 10 Essential Elements, to be scaled-up across 10 counties in NYS. Using a cluster-randomized stepped-wedge type-2 hybrid effectiveness-implementation design, we will test (a) the implementation impact of Opioid Court REACH in improving implementation outcomes along the opioid cascade of care (screening, referral, treatment enrollment, MOUD initiation), and (b) the clinical and cost effectiveness of Opioid Court REACH in improving public health (treatment retention/court graduation) and public safety (recidivism) outcomes. Opioid Court REACH has the potential to improve management of individuals with opioid addiction in the court system via widespread scale-up of the opioid court model across the U.S., should this study find it to be effective.RRx-001 research buy
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