Resistance to conventional drug therapy and good response to lomitapide allowed the identification of a novel bi-allelic semi-dominant monogenic HoFH: a case report.

Introduction: Familial hypercholesterolaemia (FH) is a genetic disorder associated with high cholesterol levels and an increased risk of premature cardiovascular events. Rare forms, such as semi-dominant bi-allelic mutations, pose diagnostic and therapeutic challenges. Misdiagnosis of FH is a significant concern, as highlighted by both this case and a review of the literature.

Improving Emergency Medical Services (EMS) Care for People With Autism in the Prehospital Setting Through Sensory and Communication Aids.

Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by social, communication, and behavioral challenges. Emergency medical services (EMS) environments, with their loud noises, bright lights, and unfamiliar personnel, often exacerbate these challenges, making care for individuals with ASD particularly complex. To address these challenges, the Franciscan Crown Point EMS system introduced the "Ben's Blue Bags" (BBBs) program.

Appendicitis Within an Incarcerated Inguinal Hernia Presenting as Acute Testicular Pain: A Case Report.

Testicular pain is a common complaint in emergency departments, with a wide range of underlying pathologies. Incarcerated inguinal hernias are an emergent and often overlooked cause of testicular pain, necessitating prompt diagnosis and management. These cases can be complex, especially when the hernia contents obscure the clinical picture.

Combining gemcitabine and MSC delivering soluble TRAIL to target pancreatic adenocarcinoma and its stroma.

Pancreatic ductal adenocarcinoma (PDAC) still has a poor response to therapies, partly due to their cancer-associated fibroblasts (CAFs). Here, we investigate the synergistic impact of a combinatory approach between a known chemotherapy agent, such as gemcitabine (GEM), and gene-modified human mesenchymal stromal/stem cells (MSCs) secreting the pro-apoptotic soluble (s)TRAIL (sTRAIL MSCs) on both PDAC cells and CAFs. The combo significantly impacts on PDAC survival in 2D and 3D models.

Maintaining Cognitive Performance at the Expense of Gait Speed for Asymptomatic Concussed Athletes: A Novel Dual-Task and Post-Exercise Assessment.

Our goal was to evaluate persisting deficits in gait and executive functioning in asymptomatic athletes with a history of concussion using a novel approach combining a dual-task paradigm and post-exercise exertion. Thirty-eight athletes aged 17 to 25 years old participated in the study, including 18 with a history of concussion. The dual-task paradigm required walking continuously at a predetermined self-paced target speed of 6.