ABSTRACT Massive subcutaneous emphysema with pneumomediastinum is a rare but potentially life‐threatening complication following tracheostomy, for which standardized management strategies are lacking. We report the case of a 67‐year‐old man who developed progressive cervicofacial and thoracic subcutaneous emphysema on postoperative Day 9 after an otherwise uncomplicated surgical tracheostomy using a fenestrated tube. The tracheostomy had been performed after multiple failed extubation attempts due to Type 2 respiratory failure in the setting of interstitial lung disease. Diagnostic evaluation with fiberoptic tracheoscopy and computed tomography of the neck and chest demonstrated extensive subcutaneous emphysema, pneumomediastinum, tracheal dilation, a suspected persistent air leak related to tube–trachea size mismatch, and the presence of fenestrations. Initial conservative bedside measures failed to halt progression. Subsequent exchange to a non‐fenestrated, flexible, wire‐reinforced cuffed tracheostomy tube with adjustable length resulted in rapid regression and complete resolution of the emphysema without the need for further intervention. This case highlights the importance of early recognition of anatomical and device‐related contributors to post‐tracheostomy air leak and demonstrates that prompt, targeted tracheostomy tube selection can provide effective airway sealing and obviate invasive management strategies.
ABSTRACT Coffin–Siris syndrome (CSS) (OMIM:614608) is a rare genetic disorder characterized by global developmental delay (GDD), speech impediment, coarse facial features, and hypoplastic or absent fifth fingernails/toenails. Genetic variants in the SMARCB1 gene are associated with CSS, benign tumors (schwannomas), and rhabdoid tumor predisposition syndrome. Genetic variants in the GNE gene are associated with the autosomal dominant sialuria (OMIM#269921), a rare inborn error of metabolism resulting in high levels of free sialic acid. Here we present case reports of two siblings: patient 1 (10 years) and patient 2 (2 years). While both siblings showed GDD and dysmorphic features such as hypotelorism and large ears, patient #1 exhibited additional phenotypes. Whole exome sequencing identified a heterozygous pathogenic variant, NM_003073.5:c.1096C>T (p.Arg366Cys), in the SMARCB1 gene in both siblings. In addition, patient 1 harbored a heterozygous likely pathogenic variant, NM_005476.7:c.2086G>A (p.Val696Met), in the GNE gene, which was absent in patient 2. The co‐occurrence of the GNE variant may contribute to the increased severity of the phenotype in patient 1. This study is the first report worldwide of the co‐occurrence of two extremely rare disorders. These findings highlight the complexity of genomic contributions while also emphasizing the value of genomic sequencing for congenital problems.
ABSTRACT Periportal tuberculous lymphadenitis with obstructive jaundice is rare and may mimic malignancy. We report a case of obstructive jaundice caused by a periportal tuberculous mass confirmed by fine‐needle aspiration and GeneXpert. Treatment was complicated by anti‐tuberculous drug‐induced liver injury. Tuberculosis should be considered in the differential diagnosis in endemic settings.
ABSTRACT Our case highlights the importance of early diagnosis in respiratory illness and timely detection of drug resistance so that antiviral treatment can be initiated and modified, particularly for high‐risk groups. Vaccination and early, carefully dosed antiviral treatment are key to mitigating severe influenza cases, especially in immunocompromised patients.
ABSTRACT Carefully selected elderly patients with metastatic PSCC may obtain a durable complete response via tislelizumab chemoimmunotherapy combined with metformin and standardized MDT management, providing practical clinical reference for high‐risk elderly lung cancer patients complicated with multiple comorbidities.
ABSTRACT Third ventricular chordoid glioma is a rare tumor often misdiagnosed due to nonspecific imaging. TTF‐1 immunoreactivity is critical for definitive diagnosis. Management should be individualized, balancing gross resection, adjuvant radiotherapy, and surveillance depending on surgical risk and recurrence potential.
INTRODUCTION:Heart failure with reduced ejection fraction (HFrEF), defined by a left ventricular ejection fraction ≤ 40%, remains a major global health challenge, associated with substantial morbidity, mortality, and impaired quality of life (QoL), particularly in patients with higher NYHA class. Sodium-glucose cotransporter-2 (SGLT2) inhibitors have emerged as a cornerstone therapy for HFrEF, significantly reducing hospitalizations and mortality regardless of glycemic status, sex, race, or comorbidities. METHODS:EVOLUTION-HF was an observational, multi-center, longitudinal cohort study involving 257 consecutive patients diagnosed with HFrEF who initiated dapagliflozin in a routine clinical setting in Greece. The primary objectives were to characterize baseline demographic and clinical features of patients newly initiated on dapagliflozin for HFrEF and to evaluate dapagliflozin treatment patterns, including discontinuation timing, reasons for discontinuation, and concomitant heart failure and glucose-lowering therapies over time. The secondary objectives are to describe patient-reported outcomes using the KCCQ-23 and to assess adherence to dapagliflozin among patients with HFrEF. RESULTS:A total of 257 patients were enrolled and the follow-up period lasted for 12 months. Significant improvements among all KCCQ-23 scores were observed from baseline to 12-months post dapagliflozin initiation, revealing that the initiation and optimization of guideline-directed medical therapy in routine clinical practice provides improvement to quality of life over time. CONCLUSIONS:Dapagliflozin was safe and well-tolerated throughout the observation period. Although benefits are observed in most patients, individuals aged > 65 years, with prior myocardial infarction, or recent hospitalizations show a diminished response, underscoring the need for tailored management and closer follow-up in these higher-risk groups.
INTRODUCTION:Gastroesophageal varices are a major complication of portal hypertension in cirrhosis, associated with high morbidity and mortality. Noninvasive predictors are needed to reduce reliance on endoscopy. Splenic elastography has emerged as a potential tool to assess portal hypertension severity. METHODS:We conducted prospective, descriptive cross-sectional study at Hospital Roosevelt, Guatemala, in 2024, including 78 patients with recent diagnosis of cirrhosis confirmed by ultrasonography. Patients with hepatocellular carcinoma, acute decompensation, or conditions interfering with splenic stiffness measurement were excluded. Splenic stiffness was measured using transient elastography with the M probe. Endoscopy was performed within two weeks. Diagnostic accuracy for gastroesophageal varices was assessed using ROC analysis. RESULTS:Mean age was 56.1 years (SD 12.6), and 70.5% were female. The most frequent etiology was viral hepatitis (30.77%), followed by alcohol-related liver disease (19.23%) and metabolic dysfunction-associated steatotic liver disease (MASLD, 11.53%). Most patients were Child-Pugh A (80.76%), with a mean MELD-Na of 11.99 (SD 5.46). Gastroesophageal varices were present in 57.69%, and large varices in 26.92%. Splenic elastography showed an AUC of 0.72 (95% CI: 0.59-0.83), with sensitivity of 82.22% and specificity of 66.67% at ≥27 kPa. Median stiffness increased progressively with variceal size, from 25 kPa in absence of varices to 50 kPa in large varices (P <0.001). No significant correlation was found with Child-Pugh class (P=0.538) or MELD-Na (P =0.121). DISCUSSION:Splenic elastography demonstrated moderate accuracy for predicting gastroesophageal varices in cirrhosis. Stiffness values correlated significantly with variceal size, supporting its role as a noninvasive marker of variceal severity. Larger external validation studies are warranted.
Thymic stromal lymphopoietin (TSLP) is a key upstream epithelial cytokine and its over-expression is associated with inflammation leading to immune dysfunction, epithelial barrier disruption, and tissue remodeling. TSLP is implicated in the pathogenesis of multiple atopic diseases including asthma, chronic rhinosinusitis with nasal polyps and eosinophilic esophagitis (EoE). EoE is a chronic, type 2 (T2) inflammatory disease linked to a delayed-type hypersensitivity response to food antigens and characterized by eosinophil-predominant mucosal inflammation and esophageal dysfunction. TSLP expression and TSLP-mediated T2 inflammatory activity is elevated in esophageal biopsies in patients with active EoE compared with patients with inactive EoE and healthy individuals. In phase 3 clinical trials, a monoclonal antibody against TSLP, tezepelumab, has shown significant improvements in clinical outcomes compared with placebo in other atopic conditions that have a shared T2 inflammatory disease pathology and epithelial remodeling pathway with EoE such as asthma and chronic rhinosinusitis with nasal polyps. In this review, we present evidence of TSLP involvement in mediating and exacerbating EoE pathology and discuss how targeting TSLP activity could be a viable therapeutic option for EoE treatment.
ABSTRACT Retinal astrocytichamartoma (RAH) is a rare benign glial neoplasm most commonly associated with tuberous sclerosis complex (TSC). Sporadic cases, occurring in the absence of systemic phakomatosis, are uncommon and may closely mimic retinoblastoma, particularly when presenting with a calcified intraocular mass, creating a diagnostic challenge with potentially irreversible therapeutic consequences. We report a 6‐year‐old boy with progressive exotropia and complete visual loss in the right eye. Multimodal imaging revealed a calcified posterior intraocular mass with diffusion restriction and contrast enhancement on MRI, features highly suspicious for retinoblastoma. Given the high radiologic suspicion of malignancy, the absence of residual visual potential, and the unavailability of optical coherence tomography, primary enucleation of the right eye with orbital implant placement was performed. Histopathological and immunohistochemical evaluation demonstrated astrocytic proliferation with focal glialfibrillary acidic protein (GFAP) positivity and synaptophysin negativity, favoring RAH; however, the unavailability of cone‐rod homeobox (CRX) and other neuronal markers precluded definitive exclusion of well‐differentiated retinoblastoma. The postoperative course was uneventful, and at one‐year follow‐up the patient remained clinically stable with no recurrence or intracranial pathology on MRI. This case illustrates the difficulty of differentiating sporadic RAH from retinoblastoma in young children when advanced diagnostics are limited, and underscores the need to weigh over treatment of a benign lesion against the risk of an unrecognizedintraocular malignancy. Expanding access to OCT and comprehensive immunohistochemistry is essential to reduce diagnostic uncertainty and unnecessary enucleation.
INTRODUCTION:Coronary artery disease (CAD) remains a leading cause of mortality, and hypertension serves as a primary, modifiable risk factor. While cardiovascular mortality historically declined, recent data indicate this trajectory has plateaued and begun to reverse. This study analyzes the temporal trends and demographic disparities in mortality due to CAD and hypertension among adults in the United States. METHODS:This retrospective study utilized the CDC WONDER database to extract mortality data from 2000 to 2024. Deaths among adults aged 25 years and older with CAD and hypertension were identified. Age-adjusted mortality rates (AAMRs) per 100 000 population were calculated. Temporal patterns and annual percent change (APC) were evaluated using Joinpoint regression analysis. RESULTS:Between 2000 and 2024, 3 776 396 deaths occurred due to CAD and hypertension among US adults. Overall AAMR rose from 57.22 to 76.95, driven by a steep 2018-2021 increase (APC: 10.13%) before a recent decline (2021-2024, APC: -3.50%). By 2024, male AAMR (106.43) doubled female AAMR (52.68). Non-Hispanic African American adults experienced the highest AAMR (96.90). Non-metropolitan areas saw greater sustained increases (AAPC: 2.79%) than metropolitan areas (AAPC: 1.23%), with the South recording the highest regional AAMR (70.25; AAPC: 1.53%). While essential hypertension mortality stabilized, hypertensive heart disease (AAPC: 4.35%) and renal disease (AAPC: 8.83%) surged. Chronic ischemic heart disease remained the leading CAD subtype (AAPC: 1.37%). CONCLUSION:CAD and hypertension-related mortality among adults has increased significantly over the past 25 years, exposing significant demographic disparities. Targeted public health strategies prioritizing optimal blood pressure management and equitable healthcare access are essential to mitigate this escalating burden.
Central retinal vein occlusion in 41-year-old female patients without conventional risk factors should raise concern for systemic evaluation for underlying malignancy and treatment-related hypercoagulability. Breast carcinoma and chemotherapy (e.g., capecitabine) may represent plausible contributing factors. Early recognition with intravitreal anti-vascular endothelial growth factor therapy can significantly improve visual outcomes.
Restoration of ACL continuity and clinical stability may occur in selected adolescents with functional ACL insufficiency. This case highlights the potential value of repeat clinical and MRI assessment before proceeding with definitive ACL reconstruction when clinical circumstances permit.
ABSTRACT Pulmonary hypertension is a chronic cardiopulmonary disease with increased pulmonary arterial pressure and right‐sided heart overload, and early symptoms often include dyspnea with hemoptysis. Hematemesis, as the presentation of gastrointestinal bleeding, is a remarkably unusual, underappreciated form of the disease, especially in children, along with valvular heart disease. We present a 15‐year‐old boy with preexisting chronic pulmonary hypertension and a history of pulmonary/aortic valvular regurgitation, who reported copious hematemesis after episodes of hemoptysis and epistaxis. At presentation, he was hemodynamically compromised with anemia, hypoxia and features of right‐sided heart strain. Initial work‐up was consistent with an upper gastrointestinal bleed, but further evaluation revealed severe pulmonary hypertension with right ventricular pressure overload and persistent pulmonary and aortic valvular regurgitation on Doppler echocardiography, confirmed radiographically with cardiomegaly and pulmonary vascular congestion. A cardiopulmonary source of bleeding was considered based on the clinical presentation and cardiopulmonary findings, although a gastrointestinal source could not be definitively excluded. The diagnosis was made based on clinical evidence in addition to imaging and echocardiography, consistent with pediatric pulmonary hypertension criteria for the diagnosis. Conservative measures were adopted for the patient, including hemodynamic stabilization, blood transfusion, proton pump inhibitor (PPI) therapy and antifibrinolytics, along with supportive management leading to cessation of hemorrhage and clinical stabilization. This case highlights the need to consider a cardiopulmonary source of bleeding in patients with pulmonary hypertension and hematemesis. Early identification of this unusual presentation is important to prevent misdiagnosis, inappropriate invasive gastrointestinal procedures and timely management with cardiopulmonary resuscitation.
ABSTRACT Vasopressor‐associated limb ischemia (VALI) is a rare but devastating complication of vasopressor therapy in septic shock. This case shows catastrophic four‐limb amputation in a 26‐year‐old obese male with suspected septic shock. This case illustrates the complex interplay between prolonged high‐dose vasopressor therapy, morbid obesity, and cytokine‐mediated microvascular injury in VALI.
ABSTRACT Isolated spinal cord lesion could be misinterpreted as a demyelinating disease. The diagnosis of sarcoidosis should be in the differential when other indices for a demyelinating disorder are absent. An inadequate response to intravenous steroid therapy should not rule out spinal sarcoidosis as this report confirms the response to intravenous infliximab.
ABSTRACT We report a case of carbamazepine‐induced Stevens‐Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) overlap in an 11‐year‐old Ugandan boy who presented with fever, facial swelling, ocular redness with photophobia, painful oral ulceration, and widespread epidermal detachment involving more than 10% of the body surface area. Symptoms developed 10 days after initiation of carbamazepine for newly diagnosed epilepsy. Examination revealed extensive mucocutaneous involvement characterized by bilateral eyelid edema, conjunctival inflammation, perioral hemorrhagic crusting, erosive oral ulcers, and a positive Nikolsky sign. A clinical diagnosis of carbamazepine‐induced SJS/TEN overlap was established based on the temporal relationship to drug exposure and characteristic clinical findings. Immediate withdrawal of carbamazepine and multidisciplinary supportive care resulted in marked clinical improvement. This case highlights the importance of early recognition, prompt withdrawal of the offending drug, and multidisciplinary supportive care in improving outcomes for pediatric SJS/TEN, particularly in resource‐limited settings.
ABSTRACT Tuberous sclerosis complex (TSC) is a rare multisystem genetic disorder characterized by the development of hamartomatous lesions in multiple organs. Although neurologic and dermatologic manifestations commonly lead to diagnosis during childhood, some patients remain undiagnosed until adulthood because of atypical presentations. We report the case of a 28‐year‐old Ethiopian woman with a longstanding seizure disorder who presented with a two‐year history of abnormal uterine bleeding. Physical examination revealed facial angiofibromas and hypomelanotic macules. Further evaluation demonstrated bilateral renal angiomyolipomas, pulmonary lymphangioleiomyomatosis, cortical and subcortical brain lesions, and uterine myometrial lesions compatible with perivascular epithelioid cell tumors (PEComas). Histopathologic examination of a surgically excised renal mass confirmed angiomyolipoma. Based on the presence of multiple major clinical and radiologic features, the patient fulfilled the 2021 International Tuberous Sclerosis Complex diagnostic criteria for a definite diagnosis. This case highlights abnormal uterine bleeding as an uncommon sentinel manifestation of TSC and emphasizes the importance of considering syndromic diagnoses when gynecologic abnormalities coexist with multisystem findings. Early recognition facilitates multidisciplinary management and long‐term organ‐specific surveillance.
ABSTRACT Crown fractures often hit maxillary central incisors. Fragment reattachment is ideal yet prone to misalignment via manual bonding. This report introduces a resin wing scaffold for compression‐free precise fragment seating, detailing its clinical steps, 24‐month follow‐up of a fractured crown, alongside mechanical insights and intraoperative risk control.
Introduction: Hepatitis C (HCV) is associated with an immunosuppressive liver microenvironment, but whether HCV affects immune checkpoint inhibitor (ICI) outcomes in unresectable hepatocellular carcinoma (HCC) remains unknown. Methods: We performed a single-center retrospective cohort study of patients with unresectable HCC treated with ICIs. In patients with a history of HCV, viremia was defined as a detectable viral load prior to immunotherapy. The primary outcome was overall survival (OS); secondary outcomes were real-world progression-free survival (PFS), time on treatment, and time to hepatic decompensation. Results: Among 350 unresectable HCC patients treated with ICIs, 135 (39%) had a history of HCV, of which 37 (27%) were viremic. Viremia was not associated with OS (HR 0.88, 95% CI 0.53-1.44, p=0.600), but was associated with longer real-world PFS (HR 0.59, 95% CI 0.36-0.96, p=0.033) and longer time on treatment (HR 0.63, 95% CI 0.40-0.99, p=0.044). Compared to patients with non-HCV related unresectable HCC (n=215), viremic patients had longer real-world PFS (HR 0.65, 95% CI 0.44-0.97, p=0.037) but non-viremic patients did not (HR 0.87, 95% CI 0.66-1.17, p=0.359). Viremia was not associated with time to hepatic decompensation (HR 1.11, 95% CI 0.61-2.04, p=0.728), but in patients who survived at least one year without decompensating, viremia was associated with shorter time to decompensation (29.8 months vs. median not reached, log-rank p=0.010). Conclusions: Viremia was not associated with OS among ICI-treated HCV patients with unresectable HCC, but was associated with longer real-world PFS and time on treatment. Further studies are needed to investigate these findings.
