Comprehensive Care for Adults with Down Syndrome in Primary Care Settings.

This review article aims to bridge the knowledge gap in providing comprehensive care to adults with Down syndrome (DS) in primary care settings. Despite the increasing prevalence of adults with DS, there is a significant lack of familiarity and comprehensive guidelines for their health care among primary care physicians. This often results in subpar health promotion, preventive screenings, and individualized care. This article attempts to provide guidance for healthcare providers on previsit preparation, clinic visit characteristics, testing and screening considerations, and decision making/guardianship for adults with DS. By emphasizing a patient-centered approach, this review aims to enhance the quality of care, reduce associated morbidity and mortality, and ultimately improve the health outcomes of adults with DS.

Challenges in diagnosis of calcaneal fractures: an examination using the WIDI SIM platform.

INTRODUCTION: The calcaneus is the most commonly fractured tarsal bone. Diagnosis is often challenging due to subtle radiographic changes and requires timely identification to prevent complications, including subtalar arthritis, neurovascular injury, malunion, osteomyelitis, and compartment syndrome. Treatment varies based on fracture type, with non-surgical methods for non-displaced stress fractures and surgical interventions for displaced or intra-articular fractures. METHODS: This study utilized the Wisdom in Diagnostic Imaging Simulation (WIDI SIM) platform, an emergency imaging simulation designed to assess radiology resident preparedness for independent call. During an 8-hour simulation, residents were tested on 65 cases across various imaging modalities of varying complexity, including normal studies. A single, unique case of calcaneal fracture was included within the simulation in four separate years of testing. Cases were assessed using a standardized grading rubric by subspecialty radiology faculty, with errors subsequently classified by type. RESULTS: A total of 1279 residents were tested in five separate years on the findings of calcaneal fractures of 5 different patients. Analysis revealed a consistent pattern of missed diagnoses across all training years, primarily attributed to observational errors. There was limited improvement with training progression as all training years exhibited similar average performance levels. CONCLUSIONS: Calcaneal fractures pose a diagnostic challenge due to their frequent subtle radiographic findings, especially in stress fractures. Simulation-based evaluations using WIDI SIM highlighted challenges in radiology residents' proficiency in diagnosing calcaneal fractures. Addressing these challenges through targeted education and exposure to diverse cases is essential to improve diagnostic accuracy and reduce complications with calcaneal fractures.

Pathogenesis of sporadic Alzheimer's disease by deficiency of NMDA receptor subunit GluN3A.

The Ca2+ hypothesis for Alzheimer's disease (AD) conceives Ca2+ dyshomeostasis as a common mechanism of AD; the cause of Ca2+ dysregulation, however, is obscure. Meanwhile, hyperactivities of N-Methyl-D-aspartate receptors (NMDARs), the primary mediator of Ca2+ influx, are reported in AD. GluN3A (NR3A) is an NMDAR inhibitory subunit. We hypothesize that GluN3A is critical for sustained Ca2+ homeostasis and its deficiency is pathogenic for AD. Cellular, molecular, and functional changes were examined in adult/aging GluN3A knockout (KO) mice. The GluN3A KO mouse brain displayed age-dependent moderate but persistent neuronal hyperactivity, elevated intracellular Ca2+ , neuroinflammation, impaired synaptic integrity/plasticity, and neuronal loss. GluN3A KO mice developed olfactory dysfunction followed by psychological/cognitive deficits prior to amyloid-ß/tau pathology. Memantine at preclinical stage prevented/attenuated AD syndromes. AD patients' brains show reduced GluN3A expression. We propose that chronic "degenerative excitotoxicity" leads to sporadic AD, while GluN3A represents a primary pathogenic factor, an early biomarker, and an amyloid-independent therapeutic target.

Suction thrombectomy of a uterine carcinosarcoma tumor thrombus extending into the IVC and right atrium.

Uterine carcinosarcoma is a rare, aggressive tumor with several cases in the literature reporting cardiac tumor thrombus involvement. In this case report, we describe a 72-year-old female with a history of uterine carcinosarcoma, who presented with extensive thrombus in the Inferior Vena Cava (IVC) and right atrium. The patient underwent an aspiration thrombectomy which aided in intravascular debulking of the thrombus. Histopathological analysis of the thrombus revealed tumor thrombus. In cryptic cases of tumor thrombus, thrombectomy with histopathological analysis can help confirm the diagnosis of metastatic disease and help guide oncologic staging and further therapy.

Testosterone Therapy for the Treatment of Unexplained Anemia in Men With Hypogonadism.

Decreased testosterone levels are often under-recognized as a cause of anemia in males with hypogonadism. Men, as a subset, are less likely to seek medical care, especially those who struggle with complex psychiatric and social conditions, where they may lack full autonomy. Increasing testosterone levels leads to erythrocytosis by elevating erythropoietin and soluble transferrin receptor levels and suppressing hepcidin and ferritin levels. While practice guidelines on testosterone therapy for hypogonadism exist, there are no large-scale, randomized clinical trials assessing the use of testosterone replacement therapy in men with hypogonadism to evaluate its effect on anemia. Testosterone replacement therapy is also not wholly benign, and patients may be at increased risk for nonfatal cardiac arrhythmias, venous thromboembolism, and acute kidney injury. We explore two cases of patients with similar prior medical history, both of whom were found to have hypogonadism and anemia that were not otherwise explained. Both patients experienced significant improvement in their anemia following testosterone supplementation.

Disseminated Gonococcal Infection Presenting as Isolated Septic Arthritis: A Case Report and Review of Literature.

Neisseria gonorrhoeae is a gram-negative diplococcus that passes from one person to another through sexual contact. On rare occasions, Neisseria gonorrhoeae may spread from the primary mucosal site to distant parts of the body and present with signs of systemic illness; this is commonly known as disseminated gonococcal infection (DGI). We present a case report of an 18-year-old patient who was diagnosed with septic arthritis of the right third metacarpophalangeal (MCP) joint without mucosal involvement or systemic symptoms and who was found to have gonococcal bacteremia. This case highlights the importance of clinician awareness of the many extragenital manifestations of DGI and a high index of suspicion in the setting of septic arthritis and high-risk sexual practices. Diagnosing DGI early and providing prompt treatment may prevent complications of sepsis, joint destruction, and a prolonged hospital stay.

Efficacy of endoscopic decompression surgery for treatment of lumbar spinal stenosis.

Background: The overall aim of this study was to assess the effectiveness of endoscopic decompression for outcomes in patients with lumbar spinal stenosis (LSS). Methods: We conducted a retrospective cohort, single-institution study of n = 139 patients from 2019 to 2022 who underwent endoscopic decompression for LSS. The primary outcome was improvement of Oswestry Disability Index (ODI) between baseline and 12-month follow-up. Results: In the present sample (n = 139) the average age was 57.6 years (SD = 17.4, with even distribution of men (49%) vs. women (51%). In patients with LSS, lumbar disc herniation was the most common diagnosis in 49 patients followed by lumbar radiculopathy in 25 patients. Lumbar radicular pain was the 3rd most common diagnosis in 21 patients with all other diagnosis listed in Table S1. There was a significant improvement (i.e., decrease) in ODI following endoscopic decompression (mean change: -8.3, 95% CI: -9.4, -7.2, P < 0.001, Fig. 1). Prior lumbar spine surgery (P = 0.048), BMI (P = 0.053), and age (P = 0.022) were associated with changes in ODI. Nearly half (47%) of the sample had prior lumbar spine surgery. Those with prior lumbar spine surgery (-7.5, 95% CI: -8.3, -6.6) showed less improvement than those without prior lumbar spine surgery (-9.1, 95% CI: -10.9, -7.2, Fig. 2). For BMI, 23% had normal BMI while 24% were overweight and 53% were obese. Patients with normal BMI (-10.3, 95% CI: -13.4, -7.2) showed greater improvements compared to overweight (-7.9, 95% CI: -9.4, -6.4) and obese (-7.6, 95% CI: -9.0, -6.3, Fig. 3) patients. Patients under 40 years old (-10.2, 95% CI: -13.6, -6.8) showed greater improvements in ODI compared to those 40 years and older (-7.8, 95% CI: -8.6, -6.8, Fig. 4). Conclusions: In patients with lumbar spinal stenosis, endoscopic decompression was associated with reduced disability. Patients with no prior lumbar spine surgery, normal BMI, and who were under 40 years old showed greater improvements.

Enhancing Radiology Education With a Case-Based Intro to Radiology on the UF WIDI e-Learning Platform.

RATIONALE AND OBJECTIVES: This study explores the implementation and efficacy of an online, interactive, case-based radiology education tool, Wisdom in Diagnostic Imaging (WIDI) Case-Based Intro to Radiology (CBIR). We hypothesize that the WIDI CBIR platform would enhance radiology teaching, foster critical thinking, and provide a comprehensive curriculum in imaging interpretation and utilization. MATERIALS AND METHODS: A focus group consisting of 1 undergraduate, 7 medical students, 9 physician assistant students, and 3 PhD students participated in this study. We tested 3 different teaching methods: a didactic approach without WIDI, a proctored didactic approach using WIDI, and a flipped classroom approach using WIDI. An online survey was conducted to assess student preference and feedback on these methods and the use of WIDI in their curriculum. RESULTS: Most students preferred the proctored didactic approach with WIDI. They reported that the platform complemented their curriculum and encouraged critical thinking. The modules covered adequate clinical and imaging details and enhanced their skills in imaging interpretation. Despite the limitations of a small sample size and reliance on self-reported outcomes, this study indicates that the WIDI platform could be integrated into PA and medical school curricula throughout the US, offering a standardized radiology curriculum. CONCLUSION: The UF WIDI appears to be a promising tool for modernizing radiology education, improving imaging interpretation skills, and enhancing appropriate imaging selection among nonradiologist medical learners. WIDI offers case-based education in imaging use, workflow, search-pattern selection, and interpretation of common radiological findings, potentially bridging the gap in radiology education. Further research and larger studies are required to assess the long-term impact on performance and clinical practice.