Clinical utility of early rapid genome sequencing in the evaluation of patients with differences of sex development.

Establishing an early and accurate genetic diagnosis among patients with differences of sex development (DSD) is crucial in guiding the complex medical and psychosocial care they require. Genetic testing routinely utilized in clinical practice for this population is predicated upon physical exam findings and biochemical and endocrine profiling. This approach, however, is inefficient and unstandardized. Many patients with DSD, particularly those with 46,XY DSD, never receive a molecular genetic diagnosis. Rapid genome sequencing (rGS) is gaining momentum as a first-tier diagnostic instrument in the evaluation of patients with DSD given its ability to provide greater diagnostic yield and timely results. We present the case of a patient with nonbinary genitalia and systemic findings for whom rGS identified a novel variant of the WT1 gene and resulted in a molecular diagnosis within two weeks of life. This timeframe of diagnosis for syndromic DSD is largely unprecedented at our institution. Rapid GS expedited mobilization of a multidisciplinary medical team; enabled early understanding of clinical trajectory; informed planning of medical and surgical interventions; and guided individualized psychosocial support provided to the family. This case highlights the potential of early rGS in transforming the evaluation and care of patients with DSD.

Prehospital trauma care education for first responders in India.

BACKGROUND: A major factor contributing to global trauma mortality and morbidity is the lack of effective prehospital trauma services in developing settings. We developed a 2-d training course for nondoctor first responders featuring high-fidelity simulation and video-assisted debriefing, self-directed learning videos, and native language instruction. MATERIALS AND METHODS: A pilot session was conducted in Jodhpur, Rajasthan. Eighteen local instructors were recruited to train 48 layperson first responders in 10 essential subjects. Didactic sessions of 15-20 min consisting of self-directed learning videos were followed by 30-40 min skill sessions featuring high-fidelity simulation, and concluded with 15-20 min video-debriefing periods. Changes in competence were evaluated using pretraining and posttraining surveys. RESULTS: Results demonstrated that statistically significant competence increases in all areas of trauma management assessed: airway (t[46] = 7.30, P < 0.000), hemorrhage (t[46] = 9.96, P < 0.000), fractures (t[46] = 9.22, P < 0.000), cervical spine injury (t[46] = 12.12, P = 0.000), chest injury (t[46] = 7.84, P < 0.000), IV line placement (t[46] = 4.36, P < 0.000), extrication (t[46] = 2.81, P < 0.005), scene assessment (t[46] = 7.06, P < 0.000), triage (t[46] = 5.92, P < 0.000), and communication (t[46] = 5.56, P < 0.000). Highest increases in competence were observed in cervical spine injury and hemorrhage management, with lowest increases in IV line placement and extrication. CONCLUSIONS: Results suggest this approach may be effective in imparting prehospital trauma management concepts to layperson first responders. This study highlights an innovative educational avenue through which trauma management capacity can be enhanced in developing settings.

Fecal transplant policy and legislation.

Fecal microbiota transplantation (FMT) has garnered significant attention in recent years in the face of a reemerging Clostridium difficile (C. difficile) epidemic. Positive results from the first randomized control trial evaluating FMT have encouraged the medical community to explore the process further and expand its application beyond C. difficile infections and even the gastrointestinal domain. However promising and numerous the prospects of FMT appear, the method remains limited in scope today due to several important barriers, most notably a poorly defined federal regulatory policy. The Food and Drug Administration has found it difficult to standardize and regulate the administration of inherently variable, metabolically active, and ubiquitously available fecal material. The current cumbersome policy, which classifies human feces as a drug, has prevented physicians from providing FMT and deserving patients from accessing FMT in a timely fashion, and subsequent modifications seem only to be temporary. The argument for reclassifying fecal material as human tissue is well supported. Essentially, this would allow for a regulatory framework that is sufficiently flexible to expand access to care and facilitate research, but also appropriately restrictive and centralized to ensure patient safety. Such an approach can facilitate the advancement of FMT to a more refined, controlled, and aesthetic process, perhaps in the form of a customized and well-characterized stool substitute therapy.