Search Results (4,602)

Background and Clinical Significance: This case report highlights the rare but potentially sight-threatening presentation of corneal ulcers associated with methamphetamine abuse. Identifying the signs of illicit drug use is critical, as ocular complications may be overlooked without proper social history or lab confirmation. Case Presentation: A 48-year-old Hispanic male presented with progressive bilateral vision loss over four weeks, describing his condition as “blind vision.” Two weeks earlier, he had visited the emergency room after a fall caused by impaired vision and was prescribed insulin, metronidazole, and fluoroquinolone drops. At ophthalmology follow-up, visual acuity was 20/400 OD and 20/800 OS. Examination revealed bilateral stromal corneal ulcers with infiltrates. Notable systemic signs—pockmarks, poor dentition, thin body habitus, and jittery behavior—raised suspicion for methamphetamine use. He was treated with bandage contact lenses, dehydrated amniotic membranes, and a steroid-antibiotic combination drop. Conclusions: This case underscores the importance of recognizing physical signs of methamphetamine abuse, even in the absence of disclosed history. Emergency room laboratory testing confirmed methamphetamine use. Awareness of drug-induced ocular effects allows for appropriate patient education, timely intervention, and referral to addiction services. Patients should be warned that continued drug use may result in irreversible vision loss. Full article

Background: Blunt abdominal trauma in pregnancy is a medical emergency with significant maternal-fetal morbidity and mortality. Although rare, intestinal ischemia can occur as a serious abdominal complication following trauma during pregnancy. Case presentation: A 41-year-old woman at 33 weeks and 6 days of gestation was involved in a car accident, as a passenger in the front seat of a vehicle that left the road and overturned. The initial examination revealed severe chest trauma but no immediate signs of abdominal injury. However, the patient’s condition worsened, showing delayed symptoms of gastrointestinal dysfunction, clinical deterioration, and labor onset. Complementary imaging studies did not reveal conclusive findings suggesting complications related to the blunt abdominal trauma. Following a multidisciplinary team’s decision to perform an emergency cesarean section in the maternal-fetal interest, intestinal ischemia secondary to a mesenteric tear was discovered, necessitating intestinal resection and end-to-end anastomosis. Conclusions: Despite being a rare condition often associated with diagnostic delays, in cases of sudden clinical deterioration or maternal hemodynamic instability, immediate multidisciplinary intervention is essential. This approach may allow the early detection of trauma-related complications, reducing potentially preventable deaths and achieving favorable maternal and neonatal outcomes. Full article

Background/Objectives: SMARCA4-deficient or SMARCA4-mutated cancers are rare but highly aggressive tumors with poor differentiation, resistance to conventional treatments, and limited clinical guidance. While thoracic SMARCA4-deficient undifferentiated tumors are relatively well described, the full spectrum of SMARCA4-altered cancers across different organs and their therapeutic responses remains poorly understood. This study aimed to systematically review published case reports and case series to clarify the clinical characteristics, molecular features, treatment patterns, and survival outcomes of SMARCA4-altered malignancies. Methods: We conducted a systematic review of case reports and case series published between 2015 and 2025 using PubMed, Embase, and Web of Science. Eligible studies included adult patients with immunohistochemically or genetically confirmed SMARCA4-deficient or SMARCA4-mutated tumors. Key clinical, pathological, molecular, therapeutic, and outcome-related data were extracted. Descriptive statistics were used, and exploratory subgroup analyses were performed based on tumor type and treatment modality. The review protocol was registered in PROSPERO (CRD420251088805). Results: A total of 109 studies reporting 160 individual patients were included. Most tumors arose in the thorax (40.0%), followed by gastrointestinal (17.5%) and gynecologic sites (15.6%). The median age was 58 years, with a male predominance (70.0%) and frequent smoking history (44.4%). Platinum-based chemotherapy was administered in 62.5% of cases, and immune checkpoint inhibitors (ICIs) were used in 25.6%. Among ICI-treated patients, partial responses or stable disease were observed in 80.5%. The median progression-free survival (PFS) was 4.0 months, and the median overall survival (OS) was 5.0 months. Conclusions: SMARCA4-altered cancers are clinically and molecularly diverse but uniformly aggressive, with limited therapeutic benefit from conventional chemotherapy. Immune checkpoint inhibitors may offer improved outcomes in select patients, particularly those with thoracic tumors. Early molecular profiling, rare tumor registries, and biomarker-driven trials are crucial for guiding future treatment strategies. Full article

Background and Clinical Significance: Congenital malformations of the right atrium are rare. Their clinical presentation varies widely, from the absence of symptoms to sudden death, often being diagnosed incidentally by cardiac imaging. First described in 1955, the right atrial diverticulum is usually characterized as a pouch-like structure originating from the free atrial wall, or right atrial appendage. The prevalence of congenital malformations of the right atrium is unknown because few clinical cases have been reported. Associated complications include arrhythmias, pulmonary thromboembolism, progressive dilatation marked by a high risk of compression and rupture. In these cases, the optimal therapeutic approach is surgical resection. Case Presentation: We present the case of a 58-year-old, hypertensive female with a history of COVID-19 (Coronavirus Disease 2019), who was admitted for persistent dyspnea and chest pain. An electrocardiogram on arrival showed no arrhythmias or ischemic changes, and echocardiography revealed severe systolic dysfunction—a left ventricular ejection fraction (LVEF) of 20%, moderate mitral and tricuspid regurgitations, and a pericardial collection, adjacent to the right atrium, considered to be a localized pericardial effusion. Coronary angiography excluded ischemic etiology and a viral myocarditis was further suspected. Cardiac magnetic resonance imaging (IRM) showed a non-ischemic scar pattern in the interventricular septum, but also detected a well-defined large mass, which communicated with the right atrium through a 20 mm opening, suggestive of a right atrial diverticulum. Contrast echocardiography confirmed the communication between the cavity and the right atrium. A surgical resection of the large diverticulum was performed. Conclusions: The particularity of this case consists in the incidental identification of a rare cardiac malformation in an adult patient. Full article

Hypersomnia may be classified as primary or secondary, with secondary hypersomnia arising from a variety of underlying causes. Thus, according to ICSD3-TR classification, the diagnosis of idiopathic hypersomnia (IH) is established based on (1) excessive daytime sleepiness (EDS); (2) electrophysiological findings including either a mean sleep latency of less than 8 min on the Multiple Sleep Latency Test (MSLT) or increased total sleep (≥11 h) on 24 h polysomnography; and (3) systematic elimination of other potential etiologies, including sleep deprivation, substances, and medical, psychiatric (notably mood disorders), or sleep disorders. Nevertheless, the clinical heterogeneity observed in IH fuels an ongoing debate, reflecting the limited understanding of its underlying pathophysiological mechanisms. This report describes the case of a patient presenting with a clinical and polysomnographic phenotype of IH (MSLT < 8 min). A comprehensive psychopathological evaluation was performed to explore the possibility of secondary hypersomnia, which revealed features consistent with complex post-traumatic stress disorder (c-PTSD). Psychotherapy focused on c-PTSD was administered with positive and objective results in hypersomnolence/EDS. This clinical improvement suggests a potential relationship between psychological trauma and hypersomnia, a connection that is rarely described in the literature and warrants further investigation. This case highlights the need for a comprehensive assessment of secondary factors, particularly complex trauma, even in the presence of a clinical and polysomnographic phenotype consistent with IH. Full article

Background/Objectives: Natural products with claimed adaptogenic and/or immunomodulatory effects are widely used in traditional medicine systems across Eurasia. These include herbal remedies (e.g., Panax ginseng), fungi (e.g., Ganoderma lucidum), and animal-derived substances (e.g., propolis from Apis mellifera). Despite their popularity, the safety profiles of these products—particularly concerning adverse events (AEs) and serious adverse events (SAEs)—remain insufficiently understood. This study aimed to assess the safety profiles of adaptogenic and immunomodulatory natural products through a scoping review of published human studies and an analysis of individual case safety reports (ICSRs) from the WHO-UMC VigiBase database. Methods: A scoping review was conducted using PubMed (1980–2024) in line with PRISMA-ScR guidelines. Eligible studies included randomized and non-randomized clinical trials and case reports in humans focused on safety outcomes. Data extraction followed the Joanna Briggs Institute (JBI) standardized template. ICSRs from VigiBase were analyzed by product type, AE type and seriousness, and demographic characteristics. The data were further organized to highlight the 15 most frequently reported products and their top five System Organ Classes (SOCs) and Preferred Terms (PTs). Results: The scoping review identified 51 natural products with reported adaptogenic and/or immunomodulatory properties. This included 285 clinical trials and 119 case studies on single-ingredient products and 54 clinical trials and 21 case studies on multi-ingredient preparations. Common AEs included gastrointestinal, dermatological, hepatic, cardiovascular, and immunological reactions. SAEs were rare but reported for Echinacea purpurea, Silybum marianum, and Camellia sinensis. From Vigibase, 45,042 ICSRs were retrieved for 49 natural products: 10,702 for single-ingredient and 34,340 for multi-ingredient products. Among 7856 reports listing a single-ingredient product as the sole suspect, 15.8% were SAEs, including eight fatal cases. However, the causality remained unclear due to insufficient data. Ganoderma lucidum, Viscum album, and Silybum marianum were most frequently associated with SAEs. In multi-ingredient products, propolis was frequently linked to hypersensitivity and skin reactions. Conclusions: This study provides a comprehensive overview of the safety profiles of adaptogenic and immunomodulatory natural products. Variability in product composition, lack of standardization, incomplete reporting in clinical studies, and underreporting in pharmacovigilance databases complicate accurate risk assessment. For multi-ingredient products, attributing specific AEs to specific components remains difficult. Further high-quality clinical research and improved pharmacovigilance are needed, along with clear safety warnings to reduce risks for consumers. Full article

Poorly differentiated thyroid malignancy, a rare histological type of aggressive thyroid malignancy with associated difficulties and gaps in its histological and molecular characterization, might lead to challenging clinical presentations that require a prompt multimodal approach. This case study involved a 56-year-old, non-smoking male with a rapidly developing goiter (within 2–3 months) in association with mild, non-specific neck compressive symptoms. His medical history was irrelevant. A voluminous goiter with substernal and posterior extension up to the vertebral bodies was detected using an ultrasound and computed tomography (CT) scan and required emergency thyroidectomy. He had normal thyroid function, as well as negative thyroid autoimmunity and serum calcitonin. The surgery was successful upon “Y” incision, which was used to give better access to the retrosternal component in order to avoid a sternotomy. Post-operatively, the subject developed hypoparathyroidism-related hypocalcemia and showed a very high serum thyroglobulin level (>550 ng/mL). The pathological report confirmed poorly differentiated, multifocal thyroid carcinoma (with an insular, solid, and trabecular pattern) against a background of papillary carcinoma (pT3b, pN0, and pM1; L1; V2; Pn0; R1; and stage IVB). The subject received 200 mCi of radioiodine therapy for 6 weeks following the thoracic surgery. Whole-body scintigraphy was performed before radioiodine therapy and showed increased radiotracer uptake at the thyroid remnants and pre-tracheal levels. Additionally, single-photon emission computed tomography combined with CT (SPECT/CT) was performed, and confirmed the areas of intense uptake, in addition to a moderate uptake in the right and left pulmonary parenchyma, suggesting lung metastasis. To conclude, an overall low level of statistical evidence exists regarding poorly differentiated malignancy in substernal goiters, and the data also remains scarce regarding the impact of genetic and molecular configurations, such as the BRAF-positive profile, in this specific instance. Furthermore, multimodal management includes additional diagnosis methods such as SPECT/CT, while long-term multilayered therapy includes tyrosine kinase inhibitors if the outcome shows an iodine-resistant profile with a poor prognosis. Awareness remains a key factor in cases of a poorly differentiated carcinoma presenting as a rapidly growing goiter with substernal extension in an apparently healthy adult. A surgical approach, while varying with the surgeon’s skills, represents a mandatory step to ensure a better prognosis. In addition to a meticulous histological characterization, genetic/molecular features provide valuable information regarding the outcome and can further help with the decision to use new anti-cancer drugs if tumor response upon radioiodine therapy is no longer achieved; such a development is expected in this disease stage in association with a BRAF-positive configuration. Full article

Introduction: Hypertrophic olivary degeneration (HOD) is a rare form of trans-synaptic degeneration involving the Guillain–Mollaret triangle, characterized by enlargement of the inferior olivary nucleus—unlike the atrophy typical of most neurodegenerative processes. It is usually associated with stroke, surgical injury, or demyelination, but rarely follows hemorrhage from a cavernous malformation (CM). This report presents a case of HOD secondary to a mesencephalic CM hemorrhage, with emphasis on imaging findings and diagnostic considerations. Case Description: A 55-year-old woman presented with acute-onset, right-sided facial, torso, and limb hypoesthesia, along with gait instability. Neurological examination revealed sensory impairment in the right maxillary (V2) and mandibular (V3) trigeminal territories, as well as diminished pain and temperature sensation throughout the right hemibody. MRI revealed a hemorrhage in the posterior mesencephalon near the left red nucleus, leading to the diagnosis of a CM with an associated venous angioma. She was managed conservatively and improved clinically. Six months later, MRI showed hypertrophy and T2/FLAIR hyperintensity of the left inferior olive, consistent with developing HOD. At 1.5 years follow-up, olivary enlargement had progressed—now consistent with stage 2 HOD—and a bilateral palatal tremor was observed, more pronounced on the right side. DTI revealed asymmetric volume loss in the left brainstem fiber pathways at the level of the medulla oblongata, confirming trans-synaptic degeneration. Conclusions: This case highlights HOD as a rare but important complication of mesencephalic CM hemorrhage. Recognition of its characteristic imaging features—olivary hypertrophy with persistent T2/FLAIR hyperintensity—is essential for accurate diagnosis. DTI supports the trans-synaptic mechanism, helping distinguish HOD from other pathologies and preventing unnecessary investigations. Full article

Background/Objectives: Brown–McLean syndrome (BMS) is a rare peripheral corneal edema that may arise years after cataract extraction or intraocular lens (IOLs) fixation. This article presents a case of IOL dislocation following scleral fixation in a patient with BMS, effectively managed by resuturing the existing IOL. Additionally, a literature review was conducted to summarize the clinical features, etiologies, and surgical outcomes of BMS. A PubMed search identified 30 reports encompassing 169 patients (244 eyes). Among these, corneal transplantation was performed in three eyes. Only four eyes underwent intraocular surgery after BMS onset, with no prior reports of IOL resuturing. Methods: A 73-year-old man with a history of left-eye trauma underwent vitrectomy and scleral fixation of a polymethyl methacrylate IOL 18 years prior. The patient presented with reduced vision in his left eye. Examination revealed BMS-related peripheral corneal edema and partial IOL dislocation. The dislocated haptic was resutured using an ab externo approach under a scleral flap. Results: Postoperative IOL fixation remained stable, with best-corrected visual acuity improving from 0.6 to 0.9. Edema persisted without central spread, and endothelial cell density decreased slightly (2496 to 2364 cells/mm²). One year postoperatively, no IOL tilt progression or suture-related complications were observed. Conclusions: Partial resuturing of a scleral-fixated IOL is effective for managing IOL dislocation in BMS when haptics remain stable. This approach minimizes incision size and potential endothelial trauma compared to explantation. However, aqueous dynamics correction may not reverse established BMS. Long-term endothelial monitoring is advised due to its chronic and progressive nature. Full article

Background: Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular anomaly characterized by a persistent, violaceous, reticulated skin pattern. It may present as a benign isolated lesion or as part of a broader syndrome with systemic anomalies such as limb asymmetry, glaucoma, or neurological impairment. Methods: We report a case series of three neonates with CMTC, each representing a distinct clinical pattern: localized, segmental, and generalized. All patients underwent comprehensive clinical assessment, including dermatologic, neurologic, and ophthalmologic evaluations. Additionally, a systematic literature review was conducted using PubMed, Scopus, and Web of Science databases, covering publications from 2012 to 2025. Results: Case 1 involved a localized lesion of the calf; Case 2 had segmental involvement of the forearm and leg; Case 3 presented with generalized CMTC covering over 85% of the body surface, accompanied by dysmorphism and bilateral persistent fetal vasculature (PFV). Literature findings highlighted significant clinical variability and a stronger association of generalized forms with systemic abnormalities. Conclusions: CMTC exhibits a broad clinical spectrum. While localized cases often resolve spontaneously, generalized forms may require multidisciplinary evaluation. Early recognition and systemic screening are crucial for optimal management. Full article

Background: Chronic eosinophilic pneumonia (CEP) is a rare inflammatory lung disease typically responsive to glucocorticoids, but is prone to relapse and, in some cases, progressive deterioration. A subset of patients develops fibrosing CEP, a distinct phenotype characterized by irreversible parenchymal remodeling and declining lung function, for which no standard treatment exists. Although biologic therapies targeting interleukin-5 (IL-5) are effective in relapsing CEP, their role in fibrosing forms remains unclear. Case Presentation: We report the case of a 43-year-old man with idiopathic CEP initially treated with systemic glucocorticoids, which were discontinued due to severe adverse effects. Despite subsequent therapy with inhaled steroids and azathioprine, the disease relapsed and progressed to a fibrosing phenotype, as confirmed by radiologic and functional assessments. An off-label treatment with subcutaneous mepolizumab, 100 mg, every 4 weeks was started. After eight months of therapy, the patient achieved clinical stability, improved lung function, and the radiologic stabilization of fibrotic changes, without the need for any further treatment with a corticosteroid. Conclusions: This is, to the best of our knowledge, the first documented case of fibrosing CEP treated with an anti-IL-5 monoclonal antibody, highlighting its potential role as a steroid-sparing agent and immunomodulator even in the fibrotic phase of disease. Further research is warranted to define the place of biologics in the management of CEP with a fibrosing evolution and possible combinations with antifibrotic drugs. Full article

Sweet syndrome (SS) is a rare neutrophilic dermatosis often associated with hematologic malignancies, particularly myelodysplastic syndromes (MDSs). We report a case of SS-like dermatosis in a patient with MDS who subsequently developed peripheral T-cell non-Hodgkin lymphoma (NHL). We review the literature on Sweet syndrome to contextualize this atypical presentation Methods: We present a case report of a 77-year-old male with leukopenia and known MDS, admitted for a persistent, infiltrated erythematous eruption. The patient underwent repeated dermatologic assessments, and serial skin and bone marrow biopsies with histopathologic and immunohistochemical analysis. A literature review was also conducted, focusing on SS in association with hematologic malignancies, including T-cell NHL. Results: Initial skin biopsies were inconclusive, and SS was diagnosed clinically based on lesion morphology and a prompt response to corticosteroids, despite the absence of definitive neutrophilic infiltrates. During follow-up, the patient’s condition progressed with worsening cytopenias and recurrent febrile episodes. Repeat biopsies eventually confirmed the diagnosis of peripheral T-cell NHL with secondary hemophagocytic lymphohistiocytosis (HLH). Conclusions: This case illustrates the diagnostic uncertainty of SS-like eruptions in hematologic patients when histopathological findings are atypical or absent. Corticosteroid responsiveness may guide early diagnosis. Full article

Human brucellosis is a zoonotic, bacterial infection caused by the intracellular, Gram-negative Brucella spp., which is common globally but rare in the United Kingdom, with approximately 20 imported cases per annum following travel to countries with high endemicity. Transmission typically occurs via the ingestion of infected animal products, including unpasteurised dairy products. Human-to-human transmission is rare, and routes include postpartum vertical transmission through breastfeeding. We report here on a familial cluster of three cases within a single UK-based Kurdish household of four, including a 11-month-old infant infected through the consumption of breast milk. Four months prior to presentation, the family had travelled together to northern Iraq for a 5-week holiday and all consumed local dairy products except for the children, including the 11-month-old, who was exclusively breastfed at the time. All three patients, including one adult male with complicated brucellosis, had a favourable outcome with medical therapy.: Brucellosis is an important differential diagnosis in returning travellers and specialist advice should be obtained early to prevent sequelae. It is also important for active case-finding, especially in family units with shared exposure. Paediatricians and adult physicians who may manage brucellosis should consider the possibility of vertical transmission in breastfeeding mothers. Full article

Background: Solar urticaria is a rare and disabling photodermatosis. Due to its low prevalence, most available data regarding treatment are derived from observational studies and case series, and a systematic evaluation of treatment efficacy is lacking. This systematic review and meta-analysis aims to assess therapeutic outcomes across treatment modalities in order to guide clinical care. Methods: We conducted a systematic literature search across PubMed, ScienceDirect, the Cochrane Library, and ClinicalTrials.gov. Studies reporting treatment outcomes in patients with solar urticaria were included. Pooled response rates were calculated for each treatment modality. Results: Out of 508 studies initially identified, 38 met the inclusion criteria. Antihistamines were evaluated in 21 studies (376 patients), with a pooled response rate (partial or complete) of 83.0% (95% CI, 70.4–91.1%) and a complete response rate of 7.7% (95% CI, 1.7–28.3%). Phototherapy was assessed in 11 studies (145 patients), showing a similar overall response (89.8%; 95% CI, 77.9–95.3%) but a higher complete response rate (39.8%; 95% CI, 18.3–66.1%). Omalizumab, evaluated in nine studies (76 patients), demonstrated the highest efficacy, with 93.2% (95% CI, 73.8–98.5%) achieving response and 68.4% (95% CI, 48.5–83.2%) complete remission. Limited data on IVIG, cyclosporine, and plasmapheresis suggested partial efficacy in selected refractory cases. Conclusions: This meta-analysis may support clinical decision-making by clinicians. A stepwise approach is suggested: high-dose H₁ antihistamines as first-line therapy, phototherapy as an alternative option in patients with access to treatment centers, and omalizumab for those with insufficient response. In refractory cases, additional options might be considered. Full article

Background: Pulmonary benign metastasizing leiomyoma (PBML) is a rare condition characterized by histologically benign smooth muscle tumors occurring at extrauterine sites, often in women with a history of uterine leiomyoma. While PBML generally exhibits indolent behavior, its pathogenesis, management, and malignant potential remain unclear. Methods: This study retrospectively analyzes the clinical characteristics, imaging features, diagnostic approaches, pathological findings, treatment strategies, and outcomes of seven patients with PBML treated at our institution between January 2016 and May 2025. Results: Seven patients were included, with a mean age at diagnosis of 48.9 ± 5.6 years. Two patients presented with respiratory symptoms. Imaging revealed multiple bilateral pulmonary nodules in four patients and solitary nodules in three. Six patients were diagnosed via video-assisted thoracoscopic surgery, and one through computed tomography-guided percutaneous biopsy. Immunohistochemistry revealed positivity for SMA and Desmin in all cases, ER in six, and PR in five, with the Ki-67 labeling index ≤3% in six patients. One patient had a coexisting in situ mucinous adenocarcinoma within the PBML lesion. All had a history of uterine leiomyoma. After diagnosis, one patient received hormonal therapy, and another underwent right adnexectomy. The remaining patients were managed with surveillance without additional treatment. During follow-up, one patient developed distant organ metastasis. Conclusions: PBML is a rare, typically indolent condition with potential for metastasis. Accurate diagnosis relies on imaging, histopathology, and immunohistochemistry. This study reports a unique case of PBML coexisting with intratumoral in situ mucinous adenocarcinoma, a previously unreported finding that may broaden the known histopathological spectrum. Full article