Vassar Brothers Medical Center

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited arrhythmogenic disorder that can lead to sudden cardiac death (SCD) in young individuals with structurally normal hearts. This case report presents a novel instance of CPVT caused by a Ryanodine receptor channel-2 (RyR2) gene mutation in a young adult. A 24-year-old male presented with recurrent syncope and pre-syncopal episodes. Initial cardiac evaluations, including electrocardiography and echocardiography, were unremarkable. The patient experienced multiple syncopal events, including an episode of aborted SCD. Implantation of a loop recorder and subsequent implantable cardioverter-defibrillator (ICD) revealed recurrent ventricular tachycardia (VT). Comprehensive genetic testing identified a pathogenic mutation in the RyR2 gene, confirming the diagnosis of CPVT. The patient was initiated on beta-blocker therapy (propranolol) for primary prevention of VT episodes and to reduce ICD interventions. The ICD was maintained for secondary prevention. This case underscores the importance of considering genetic arrhythmia syndromes in the differential diagnosis of unexplained syncope in young adults, even when initial cardiac assessments appear normal. It also highlights the critical role of genetic testing in the diagnosis and management of inherited cardiac conditions and emphasizes the need for family screening due to the autosomal dominant inheritance pattern of RyR2 mutations.

Managing patients with acute myocardial infarction and concomitant intracerebral hemorrhage (ICH) is a complex challenge requiring a delicate balance between timely reperfusion and hemorrhagic risk mitigation. This state-of-the-art review comprehensively analyzes current evidence and best practices for managing this patient population. Individualized risk assessment, utilizing validated tools such as the Global Registry of Acute Coronary Events and ICH scores, is crucial for guiding treatment decisions. Multidisciplinary collaboration among cardiology, neurology, neurosurgery, and critical care specialists is essential for optimizing outcomes and reducing complications. Standardized protocols and effective communication are vital to streamlining care and minimizing delays. Shared decision-making and patient-centered care are vital in balancing the risks and benefits of interventions. Patients and families should be involved in decision-making, understanding each treatment option’s potential risks, benefits, and expected outcomes. Addressing patients’ psychosocial needs and providing adequate postdischarge support are also important. As research advances, developing novel risk stratification tools, targeted therapies, and patient-centered care models will be crucial for improving the management of these challenging cases. Telemedicine and digital health platforms have the potential to enhance multidisciplinary collaboration and remote patient monitoring. This review provides insights into current best practices and future directions for managing patients with acute myocardial infarction and concomitant ICH, emphasizing individualized risk assessment, multidisciplinary collaboration, shared decision-making, and patient-centered care to optimize outcomes and improve quality of life.

The skin microbiome, comprising diverse microbial communities, is pivotal in maintaining cutaneous homeostasis and modulating immune responses in immunodermatological diseases. This review provides an overview of recent research investigating the interplay between the skin microbiome and autoimmune, allergic, and inflammatory skin conditions, such as psoriasis, eczema, and acne vulgaris. Current evidence suggests that alterations in the skin microbiome composition, termed dysbiosis, may contribute to disease pathogenesis and exacerbate inflammation in immunodermatological disorders. Furthermore, microbial-derived metabolites and immune-modulating factors produced by commensal bacteria can influence local immune responses and skin barrier function. Future research directions include evaluating how the skin microbiome interacts with the host immune system, identifying microbial biomarkers for disease diagnosis and prognosis, and exploring microbiome-targeted therapeutic interventions, such as probiotics, microbial transplantation, and microbial metabolite supplementation. By leveraging insights from microbiome research, personalized approaches to managing immunodermatological diseases may offer novel therapeutic avenues for restoring skin immune homeostasis and improving patient outcomes.

Background and aim Coronary artery disease (CAD) is a leading cause of morbidity and mortality in the United States, with peripheral arterial disease (PAD) and lower limb (LL) amputation contributing to poor cardiovascular outcomes. While previous studies have identified the link between CAD and PAD-related amputations, data on short-term in-hospital outcomes remain limited. This study aimed to compare in-hospital mortality and complications between CAD patients undergoing LL amputation and those without it. Methods We conducted a retrospective cohort study using the Nationwide Inpatient Sample (NIS) from 2016 to 2021, identifying CAD patients with and without LL amputation via International Classification of Diseases, 10th Revision (ICD-10) codes. Propensity score matching (PSM) was performed using a 1:1 nearest-neighbor algorithm to minimize selection bias, adjusting for demographics, comorbidities, and hospital characteristics. The primary outcome was in-hospital all-cause mortality, while secondary outcomes included acute heart failure, cardiogenic shock, acute kidney injury (AKI), major adverse cardiac and cerebrovascular events (MACCE), and healthcare resource utilization. Results A total of 31,379,939 CAD patients were identified, with 119,320 (0.4%) undergoing LL amputation. After propensity score matching (PSM), 23,261 patients were included in each group. The LL amputation cohort exhibited significantly higher in-hospital mortality (5.5% vs. 3.3%, p<0.001), cardiac arrest (2.3% vs. 1.4%, p<0.001), acute kidney injury (AKI) (29.3% vs. 26.8%, p<0.001), and acute limb ischemia (5.2% vs. 0.4%, p<0.001). Conversely, CAD patients without amputation had higher rates of acute heart failure (18.3% vs. 10.7%, p<0.001), major adverse cardiac and cerebrovascular events (MACCE) (22.5% vs. 12.2%, p<0.001), and percutaneous coronary intervention (6.7% vs. 0.9%, p<0.001). The length of stay and total hospital charges were significantly higher in the amputation group (10 days vs. four days; $26,590 vs. $11,686, p<0.001). Conclusion Lower limb amputation in CAD patients is associated with increased in-hospital mortality, cardiac complications, and healthcare resource utilization. These findings underscore the need for early intervention strategies targeting PAD progression and comprehensive perioperative cardiovascular risk management in amputees. Future research should focus on optimizing revascularization approaches, rehabilitation programs, and tailored preventive measures to improve outcomes in this high-risk population.

Distal ulcerative colitis (DUC), affecting 30–50% of ulcerative colitis (UC) patients, is a subtype characterized by inflammation limited to the rectum and sigmoid colon. The pathogenesis involves a complex interplay of genetic, environmental, and immune factors, with cytokines like TNF-α, IL-1β, IL-6, and IL-17 playing significant roles. Despite therapeutic advancements, distal ulcerative colitis presents unique challenges due to its localized nature and diverse response to treatments. This review examined 50 randomized controlled trials (RCTs) that explored pharmacological and non-pharmacological interventions for distal ulcerative colitis, focusing on symptom remission, mucosal healing, and quality-of-life outcomes. Key findings revealed that pharmacologic treatments, particularly 5-aminosalicylic acid (5-ASA), corticosteroids, and biologics, effectively achieved remission, with combined therapies beneficial in refractory cases. Non-pharmacologic strategies, including lifestyle modifications and patient education, further supported treatment efficacy by enhancing patient adherence and outcomes. Importantly, trials highlighted that individualized approaches – such as early biologic therapy for patients with moderate-to-severe disease, dose adjustments based on patient demographics, and tailored lifestyle recommendations – enhanced treatment response and patient quality of life. The review underscores the necessity of personalized management strategies that integrate these findings to address distal ulcerative colitis’s heterogeneous nature and improve long-term patient outcomes.

This comprehensive literature review examines the intricate relationship between Body Dysmorphic Disorder (BDD) and dermatological conditions, with a particular focus on those characterized by conspicuous skin irregularities such as acne vulgaris, psoriasis, and vitiligo. Highlighting the significant prevalence of BDD among individuals afflicted with these dermatological issues, our analysis seeks to illuminate the profound psychological repercussions stemming from an exaggerated preoccupation with perceived skin imperfections. Through an in-depth exploration of the psychopathology underlying BDD symptoms, we analyze the complex dynamics between skin health and mental well-being, emphasizing the disorder's impact on patients’ psychological and social functioning. The paper further investigates the consequential effects of BDD on essential aspects of dermatologic treatment, including patient adherence to therapeutic regimens, overall quality of life, and the effectiveness of available treatments. In addition to presenting current therapeutic approaches, we advocate for the integration of psychodermatological interventions tailored to mitigate the dual burden of skin conditions and psychological distress. Future research directions proposed include longitudinal studies to assess the long-term effects of BDD on skin disease prognosis and psychosocial well-being, aiming to refine and optimize treatment modalities to contribute to a more holistic understanding of BDD within dermatological practice.

This narrative literature review examined the intricate relationship between body dysmorphic disorder (BDD) and dermatological conditions, with a brief focus on those characterized by conspicuous skin irregularities such as acne vulgaris, psoriasis, and vitiligo. Highlighting the significant prevalence of BDD among individuals afflicted with dermatological issues, our analysis illuminated the profound psychological repercussions stemming from an exaggerated preoccupation with perceived skin imperfections. Through an exploration of the underlying BDD symptoms, we analyzed the complex dynamics between skin health and mental well-being, emphasizing the disorder’s impact on patients’ psychological and social functioning. This narrative review further investigated the consequential effects of BDD on essential aspects of dermatological treatment, including patient adherence to therapeutic regimens, overall quality of life (QOL), and the effectiveness of available treatments. In addition to presenting current therapeutic approaches, we advocate for the integration of psycho-dermatological interventions tailored to mitigate the dual burden of skin conditions and psychological distress. Future research directions proposed include longitudinal studies to assess the long-term effects of BDD on skin disease prognosis and psychosocial well-being, which aim to refine and optimize treatment modalities to contribute to a more holistic understanding of BDD within dermatological practice.