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Hereditary angioedema (HAE) is a rare and potentially life-threatening genetic disorder, constituting approximately 2% of all clinical cases of angioedema, with a global prevalence estimated between 1 in 50,000 and 1 in 150,000 individuals. The condition affects individuals of all genders and ethnic backgrounds without significant variation. HAE is classified into three types. Type I HAE, which accounts for 85% of cases, is characterized by a deficiency of the C1 esterase inhibitor (C1-INH) gene. Type II HAE, making up 15% of cases, involves a dysfunctional C1-INH. Type III HAE, which represents about 5% to 10% of cases, is often estrogen-dependent and although several mutations have been identified, it typically involves normal C1-INH activity. Despite the differences in C1-INH functionality, all three types of HAE manifest with similar clinical symptoms. HAE leads to recurrent episodes of non-pruritic angioedema, which occurs in the absence of urticaria. Breakthroughs in understanding HAE pathophysiology have revolutionized treatment, leading to the development of highly targeted therapies for both acute management and long-term prevention. Meanwhile, cutting-edge advancements in omics technologies are unlocking new possibilities for biomarker discovery, paving the way for more precise diagnoses and personalized treatment strategies that could significantly enhance patient outcomes. This review will delve into the intricate pathophysiology, diverse clinical presentations, and diagnostic challenges of HAE while exploring emerging biomarkers and innovative approaches to therapeutic management and prevention strategies. Additionally, it will underscore the vital importance of screening family members of affected individuals, even when symptoms are not present. [ABSTRACT FROM AUTHOR]

Abrocitinib, an oral small-molecule Janus Kinase 1 (JAK1) inhibitor, is primarily approved for treating moderate-to-severe atopic dermatitis (AD) in adults and adolescents aged 12 and older. This review examines the emerging off-label uses of Abrocitinib. We identified 37 papers reporting on the use of Abrocitinib in various conditions other than AD. The most commonly reported uses were for vitiligo, prurigo nodularis, and hand eczema, with 12 cases each. There were also 10 cases of lichen sclerosus and chronic pruritus of unknown origin and 5 cases each of pityriasis rubra pilaris alopecia areata. Additionally, erythematotelangiectatic rosacea and steroid-induced rosacea were reported in four cases each. Other conditions treated with Abrocitinib were noted, but these mostly had only one or two reported cases. Interestingly, out of the 103 patients reviewed, all studies reported favorable clinical outcomes and satisfactory results, with the exception of one isolated case where Abrocitinib was used to treat erythematotelangiectatic rosacea. [ABSTRACT FROM AUTHOR]

Nephrolithiasis, or kidney stone disease, is a significant global health issue in urology, requiring effective management strategies. The management of nephrolithiasis through flexible ureteroscopy (fURS) is increasingly gaining acceptance; however, it is associated with significant costs related to consumables, pharmacotherapy, specialized equipment, and general anesthesia (GA). Limited resources and the need to optimize the cost effectiveness ratio have driven the shift to day-case procedures, offering financial and operational benefits and improving patient satisfaction. This outpatient care approach addresses clinical and economic challenges. For same-day discharge, spinal anesthesia (SA) is essential for fURS, as GA does not permit safe immediate discharge. This retrospective study investigates the feasibility of same-day discharge following fURS procedures performed under SA. Analyzing data from 401 patients who underwent 414 fURS procedures between January 2020 and December 2023, this study aims to evaluate whether same-day discharge is a viable option compared to conventional fURS under GA. The primary objectives are to assess the outcomes, including efficacy, stone-free rate (SFR), pain management, and complication rates, in the context of same-day discharge. Additionally, this study seeks to identify patient and kidney stone characteristics that may influence the suitability of one-day fURS under SA. Outcomes will be measured using the Dindo–Clavien (D-C) classification and Visual Analog Scale (VAS) scores post-procedure. [ABSTRACT FROM AUTHOR]

Atopic Dermatitis (AD), recognized as one of the most prevalent chronic inflammatory skin disorders among children, is characterized by skin barrier dysfunction and immune system abnormalities. Historically viewed as a childhood condition, recent findings underscore a notable prevalence of AD in adults, prompting a critical examination of this demographic. Diagnosis hinges largely on subjective clinical assessments due to the absence of universally accepted biomarkers. Consequently, efforts are underway to identify dependable biomarkers to enhance diagnostic precision. This paper underscores the scarcity of AD diagnoses in adults despite its pediatric prominence, emphasizing the need for heightened awareness and tailored diagnostic approaches in adult populations. Severity scores such as SCORing Atopic Dermatitis (SCORAD) and dermatological life quality index (DLQI) play pivotal roles in evaluating disease severity and its impact on quality of life, guiding the development of personalized treatment strategies for adult AD patients. In this study, we aim to present four compelling cases of adult-onset atopic dermatitis, each offering unique insights into this increasingly recognized phenomenon. What makes these cases particularly noteworthy is the absence of any prior atopic history in two out of four patients, challenging the conventional understanding of AD as a condition predominantly linked to childhood. Moreover, the clinical presentation in all four cases was markedly atypical, underscoring the elusive nature of adult-onset AD diagnosis. In our investigation, interleukin 4 (IL-4), interleukin 13 (IL-13), and Immunoglobulin E (IgE) were utilized as diagnostic biomarkers for our patient cohort. Given the established pivotal roles of IL-4 and IL-13 in AD pathogenesis, elevated serum levels of these biomarkers, although not universally endorsed, hold potential for diagnostic utility. Furthermore, heightened levels of IgE, indicative of allergic responses and inflammation inherent to the condition, emphasize its significance as a key biomarker and therapeutic target in AD management. [ABSTRACT FROM AUTHOR]