Frontiers in Medicine

Primary ciliary dyskinesia (PCD) is a monogenic disorder of motile cilia characterized by impaired mucociliary clearance and multisystem involvement. We describe a patient with bronchiectasis, chronic rhinosinusitis, situs inversus, and primary infertility with hoard the ZMYND10 splice-site variant (NM_015896.4:c.511–1G>A). High-speed video microscopy (HSVM) demonstrated near-complete immo…

Chronic Obstructive Pulmonary Disease (COPD) requires accurate severity staging for treatment planning and prognosis. Machine learning models for COPD severity prediction typically treat Global Initiative for Chronic Obstructive Lung Disease (GOLD) stages as nominal categories, ignoring their natural ordering. We developed an ordinal neural network framework that explicitly models the ordered str…

Background Obesity is a complex chronic disease involving genetic, environmental, and behavioral factors. Traditional Chinese medicine (TCM) non-pharmacological therapies are promising complementary strategies for simple obesity, yet evidence is fragmented and their comparative effectiveness remains unclear. Objectives This study aimed to evaluate and compare the efficacy of different TCM non-pha…

Malignant melanoma (MM) is the most aggressive form of skin cancer, for which early detection is critical and strongly associated with improved survival outcomes. Recent advances in large language models (LLMs), such as ChatGPT and Gemini, present promising opportunities to support melanoma early screening and clinical decision-making. However, despite increasing interest in LLM-based dermatologi…

Hemorrhagic fever with renal syndrome (HFRS) is a hantavirus-induced zoonosis characterized by fever, hemorrhagic manifestations, and acute kidney injury (AKI). Endocrine sequelae have been increasingly recognized after HFRS, yet parathyroid dysfunction has rarely been reported. Secondary hyperparathyroidism (SHPT) is classically associated with chronic kidney disease, but severe AKI may also dis…

Background This study aimed to evaluate the predictive value of the Fibrosis-4 (FIB-4) index for 28-day mortality in patients with acute pancreatitis and to develop a comprehensive prognostic model. Methods This retrospective study included 467 adult patients admitted to the intensive care unit. Risk factors for 28-day mortality were identified through univariate and subsequent multivariate logis…

Background From a precision medicine perspective, this systematic review and meta-analysis synthesizes evidence on the genotoxic effects of waste anesthetic gases (WAGs) in healthcare workers. It aims to identify robust biomarkers for individualized risk assessment and to clarify the pattern of DNA damage to inform targeted monitoring strategies. Methods We conducted a comprehensive search of fou…

Primary cutaneous amyloidosis (PCA) is a chronic, severely pruritic dermatosis characterized by amyloid deposition in the dermis. There is currently no standardized treatment for PCA, and its clinical management remains challenging. Ivarmacitinib, a novel, highly selective oral Janus kinase 1 (JAK1) inhibitor, has demonstrated significant efficacy in modulating inflammatory and pruritic pathways …

Introduction Pleural effusion is a recognized complication of peritoneal dialysis (PD), with pleuroperitoneal communication (PPC) representing a rare but clinically significant cause. Patients typically present with dyspnea, reduced ultrafiltration volume and edema. Case presentation A 52-year-old woman on daily peritoneal dialysis reported progressive dyspnea and chronic localized chest pain, wh…

Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by intensely pruritic blisters, prurigo-like nodules, and scarring on the extensor aspects of the extremities. We present a 43-year-old female patient with a 30-year history of recurrent erythematous plaques, nodules, and blisters, which was accompanied by severe pruritu…

Background and objectives Vesicovaginal fistula (VVF) is a devastating condition for female patients. We aimed to summarize our experience in the management of VVF and the surgical outcomes at our center and propose an algorithm for clinical practice. Materials and methods We conducted a retrospective study of patients with VVF who underwent surgical treatment at our center between January 2013 a…

Background Mucormycosis is a highly aggressive and destructive angio-invasive infection caused by fungi of the order Mucorales . Diagnosis currently relies on lengthy and insensitive culture of biopsy specimens, as well as time-consuming histopathological examination of tissue samples, which lacks specificity. Case presentation This case study describes an unusual presentation of cutaneous mucorm…

We report a case of generalized granuloma annulare (GGA) associated with lung adenocarcinoma. An old woman presented with generalized papules and plaques accompanied by pruritus that persisted for 1 year. Dermatological examination revealed densely distributed annular papules ranging from millet- to mung bean-sized lesions on the head, neck, trunk, and extremities. The majority of papules showed …

Diabetic macular edema (DME) is the leading cause of vision loss in patients with diabetes. Conventional therapies like intravitreal injections (IVI) of anti-vascular endothelial growth factor (VEGF) agents and corticosteroids are often limited by the frequent injections and risks of complications. Suprachoroidal space (SCS) injection has emerged as a novel drug delivery technique. It targets eye…

Rapid advances in genomic sequencing increasingly expose obstetricians to complex and heterogeneous genetic information in routine clinical practice. Traditional disease-specific screening models are no longer sufficient to guide decision-making across the broad spectrum of rare disorders encountered in reproductive medicine. Frontline clinicians require a universal yet clinically intuitive frame…

Objective To compare the therapeutic outcomes of lateral locking plate combined with anterior medial support plate, locking plate combined with autogenous iliac bone graft, and simple lateral locking plate in the reconstruction of medial column support loss in elderly patients with proximal humeral fractures. Methods A retrospective cohort study was conducted to analyze the data of 51 elderly pat…

Background Deprescribing is a critical strategy for optimizing medication use in older adults with polypharmacy, yet its implementation in real-world clinical settings faces multifaceted challenges that require systematic understanding. This study aims to explore these barriers to inform effective service integration. Objectives To gain an in-depth understanding of the challenges of deprescribing…

Ruxolitinib 1.5% cream, a topical Janus Kinase (JAK) 1/2 inhibitor, represents a novel targeted treatment for non-segmental vitiligo, a common acquired depigmentation disorder of autoimmune origin clinically characterized by milky-white patches on the affected body areas. The efficacy of topical ruxolitinib in vitiligo has been demonstrated in clinical trials and real-life observation, with an ov…

Background Early detection of referable diabetic retinopathy (RDR) is crucial to prevent vision loss. We developed and validated a machine learning (ML) model using clinical and laboratory variables to predict RDR without ophthalmic imaging. Methods We enrolled 562 adults with diabetes who underwent fundus examination at a single tertiary center from June 2015 to December 2023, retrospectively an…

Oxidative stress is harmful for spermatic DNA, since high levels of reactive oxygen species lead to the formation of toxic adducts derived from DNA oxidation. This phenomenon is especially relevant under pathological conditions such as asthenozoospermia, necrozoospermia, oligozoospermia, or azoospermia. The nucleoside most susceptible to this damage is 2′-deoxyguanosine (2′-dG), which is oxidized…