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Vascular Ehlers-Danlos Syndrome (vEDS) is an inherited connective tissue disorder caused by COL3A1 gene, mutations that encodes type III collagen, a crucial component of blood vessels. vEDS can be life-threatening as these patients can have severe internal bleeding due to arterial rupture. Here, we generated induced pluripotent stem cell (iPSC) lines from two vEDS patients carrying a missense mutation in the COL3A1 (c.226A > G, p.Asn76Asp) gene. These lines exhibited typical iPSC characteristics including morphology, expression of pluripotency markers, and could differentiate to all three germ layer. These iPSC lines can serve as valuable tools for elucidating the pathophysiology underlying vEDS.

Arterial calcification due to deficiency of CD73 (ACDC) is an adult onset, rare genetic vascular disorder signified by calcium deposition in lower extremity arteries and joints of hands and feet. Mutations in NT5E gene has been shown to be responsible for the inactivation of enzyme CD73 causing calcium buildup. Here, we report a iPSC line generated from a patient showing signs of ACDC and carrying a missense mutation in NT5E (c.1126A→G,p.T376A) gene. This iPSC line shows normal morphology, pluripotency, karyotype, and capability to differentiate into three germ layers, making it useful for disease modeling and investigating pathological mechanisms of ACDC.

BackgroundInnovative solutions to nursing care are needed to address nurse, health system, patient, and caregiver concerns related to nursing wellness, work flexibility and control, workforce retention and pipeline, and access to patient care. One innovative approach includes a novel health care delivery model enabling nurse-led, off-hours wound care (PocketRN) to triage emergent concerns and provide additional patient health education via telehealth. ObjectiveThis pilot study aimed to evaluate the implementation of PocketRN from the perspective of nurses and patients. MethodsPatients and part-time or per-diem, wound care–certified and generalist nurses were recruited through the Stanford Medicine Advanced Wound Care Center in 2021 and 2022. Qualitative data included semistructured interviews with nurses and patients and clinical documentation review. Quantitative data included app use and brief end-of-interaction in-app satisfaction surveys. ResultsThis pilot study suggests that an app-based nursing care delivery model is acceptable, clinically appropriate, and feasible. Low technology literacy had a modest effect on initial patient adoption; this barrier was addressed with built-in outreach and by simplifying the patient experience (eg, via phone instead of video calls). This approach was acceptable for users, despite total patient enrollment and use numbers being lower than anticipated (N=49; 17/49, 35% of patients used the app at least once beyond the orientation call). We interviewed 10 patients: 7 who had used the app were satisfied with it and reported that real-time advice after hours reduced anxiety, and 3 who had not used the app after enrollment reported having other resources for health care advice and noted their perception that this tool was meant for urgent issues, which did not occur for them. Interviewed nurses (n=10) appreciated working from home, and they reported comfort with the scope of practice and added quality of care facilitated by video capabilities; there was interest in additional wound care–specific training for nonspecialized nurses. Nurses were able to provide direct patient care over the web, including the few participating nurses who were unable to perform in-person care (n=2). ConclusionsThis evaluation provides insights into the integration of technology into standard health care services, such as in-clinic wound care. Using in-system nurses with access to electronic medical records and specialized knowledge facilitated app integration and continuity of care. This care delivery model satisfied nurse desires for flexible and remote work and reduced patient anxiety, potentially reducing postoperative wound care complications. Feasibility was negatively impacted by patients’ technology literacy and few language options; additional patient training, education, and language support are needed to support equitable access. Adoption was impacted by a lack of perceived need for additional care; lower-touch or higher-acuity settings with a longer wait between visits could be a better fit for this type of nurse-led care.

Background Heart failure constitutes a high burden on patients and society, but although lifetime risk is high, it is difficult to predict without costly or invasive testing. We aimed to establish new risk factors of heart failure, which potentially could enable early diagnosis and preemptive treatment. Methods and Results We applied machine learning in the UK Biobank in an agnostic search of risk factors for heart failure in 500 451 individuals, excluding individuals with prior heart failure. Novel factors were then subjected to several in‐depth analyses, including multivariable Cox models of incident heart failure, and assessment of discrimination and calibration. Machine learning confirmed many known and putative risk factors for heart failure and identified several novel candidates. Mean reticulocyte volume appeared as one novel factor and leg bioimpedance another, the latter appearing as the most important new marker. Leg bioimpedance was lower in those who developed heart failure during an up to 9.8‐year follow‐up. When adjusting for known heart failure risk factors, leg bioimpedance was inversely related to heart failure (hazard ratio [95% confidence interval], 0.60 [0.48–0.73] and 0.75 [0.59–0.94], in age‐ and sex‐adjusted and fully adjusted models, respectively, comparing the upper versus lower quartile). A model including leg bioimpedance, age, sex, and self‐reported history of myocardial infarction showed good discrimination for future heart failure hospitalization (Concordance index [C‐index]=0.82) and good calibration. Conclusions Leg bioimpedance is inversely associated with heart failure incidence in the general population. A simple model of exclusively noninvasive measures, combining leg bioimpedance with history of myocardial infarction, age, and sex provides accurate predictive capacity.

Recent refinements of magnetic resonance angiography (MRA) allow imaging vessels as small as the septocutaneous perforators (? 1 to 2 mm diameter), but a Medline review reveals no report of septocutaneous vessel imaging for free flap surgery. Challenges in fibula free flap preparation include knowledge of: (1) tibioperoneal anatomy, (2) the positions of the perforator vessels on the peroneal artery and their course in the posterolateral intermuscular septum, and (3) the cutaneous distribution of the perforators. Questioning whether high-resolution MRA could image these, we studied the lower extremities of nine healthy volunteers. MRA demonstrated tibioperoneal anatomy in sufficient detail to exclude anatomic variants and significant peripheral vascular disease and showed septocutaneous perforators arising from the peroneal artery and coursing in the posterolateral intermuscular septum to the skin. High-resolution MRA provided anatomic and clinical information that conventionally has been impossible to obtain preoperatively or has required multiple tests, often of an invasive nature. [ABSTRACT FROM AUTHOR]