Cureus最新文献

Factor XIII deficiency (FXIIID) is a rare autosomal recessive hereditary bleeding disorder caused by heterogeneous mutations, leading to potentially life-threatening hemorrhages and early fetal loss. FXIII plays a vital role not only in cross-linking fibrinogen to stabilize clot formation but also in wound healing, angiogenesis, and fetal viability. Diagnosing FXIIID is particularly challenging, as standard coagulation assays typically yield normal results, necessitating specific FXIII testing an additional barrier in resource-limited settings such as developing countries. Early diagnosis is crucial, especially due to the high risk of intracranial bleeding. We report the case of an infant who was admitted for postcirumcision bleeding and was ultimately diagnosed with congenital FXIII deficiency.

Thymic neuroendocrine neoplasms (tNENs) are rare anterior mediastinal tumors with aggressive behavior and can be misdiagnosed as type A thymoma on small biopsies or intraoperative frozen sections, although accurate distinction is critical for prognosis and management. Type A thymoma, while generally considered a low-grade malignant tumor with a favorable prognosis, comprises a small subset that exhibits aggressive features and develops distant metastases after surgical resection; these tumors are classified as atypical type A thymomas. A 72-year-old woman had a history of resected atypical type A thymoma two years earlier. Surveillance computed tomography revealed a 15-mm mediastinal nodule located anterior to the superior vena cava with intense fluorodeoxyglucose uptake on positron emission tomography-computed tomography. Frozen sections showed a proliferation of small- to medium-sized polygonal and short spindle cells arranged in solid nests and trabeculae without a lymphocyte-rich background, and were interpreted as recurrent atypical type A thymoma. In contrast, imprint cytology demonstrated monomorphic small- to medium-sized tumor cells with round to oval nuclei, finely granular "salt-and-pepper" chromatin, inconspicuous nucleoli, loose cohesion, and scattered rosette-like structures, strongly suggesting a tNEN. Permanent sections revealed nests, trabeculae, and rosettes of small- to medium-sized polygonal cells with granular chromatin and approximately four mitoses per 10 high-power fields, without large confluent necrosis. Immunohistochemistry showed diffuse positivity for CD56, chromogranin A, synaptophysin, and insulinoma-associated protein 1; a Ki-67 index of about 20%; negativity for CD5, CD117 (c-KIT), p63 (TP63), CK5/6, and CD20; and the absence of TdT/CD99-positive immature T cells, supporting a diagnosis of thymic atypical carcinoid. This case highlights the complementary value of imprint cytology and an appropriate immunohistochemical panel, in addition to frozen sections, in avoiding misclassification of tNENs as type A thymoma.

In frontalis muscle suspension surgery for treating congenital ptosis, the use of expanded polytetrafluoroethylene (ePTFE) sheets often yields stable postoperative outcomes; however, it also carries the risks of foreign body reactions and infection, with few reports describing the detailed course of treatment in such cases. A 15-year-old girl was referred for management of right congenital ptosis. Preoperative margin reflex distance-1 (MRD-1) measurements were 1.5 mm on the right and 4.5 mm on the left, with corresponding levator function of 5 mm and 14 mm on the right and left, respectively. Levator advancement was considered insufficient to correct the asymmetry; therefore, a frontalis muscle suspension using an ePTFE sheet was planned. After positioning the sheet and forming double eyelids, MRD-1 was confirmed to be symmetrical bilaterally (4.5 mm), the curvature was appropriate, and the incision was closed. At the two-week postoperative suture removal, a small portion of the ePTFE sheet was visible through a gap in the wound at the eyelid margin; therefore, it was trimmed, and wound closure was subsequently confirmed. Six weeks after surgery, the patient presented with fever, eyelid redness, and pain. Infection was noted at the eyelid margin wound site; therefore, the ePTFE sheet was removed, followed by wound irrigation. After prompt ePTFE sheet removal, adequate eyelid elevation and curvature were equivalent to those prior to sheet removal, making this protocol a viable treatment option for similar cases.

Introduction: The use of artificial intelligence (AI) in medical education is expanding, yet evidence supporting its role in delivering formative feedback during simulated clinical encounters remains limited. Ambient listening (AL) technology has demonstrated utility for clinical documentation but is underexplored as an educational feedback tool. This study aimed to evaluate the feasibility, perceived quality, and learner acceptance of AI-generated feedback produced by an AL transcription system during simulated patient encounters in undergraduate medical education.

Materials and methods: First- and second-year medical students at a single U.S. medical school voluntarily participated in the study during their scheduled simulated patient encounters. Encounters were recorded using an AI-powered AL application. Students submitted a standardized skills rubric and predefined prompt to generate automated feedback and SMART goals following their encounter. Learners completed an anonymized post-encounter survey on the perceived quality of AI-provided feedback, using the validated Quality of Assessment for Learning index and optional free-text responses.

Results: A total of 10 learner evaluations were collected. All participants reported that the AI-generated feedback provided sufficient evidence of performance, included suggestions for improvement, and linked feedback directly to observed behaviors. Qualitative responses consistently described the feedback as accurate, sustainable, and closely aligned with standardized patient feedback and learner self-assessment. Suggested areas for improvement included greater contextual awareness and more specific, example-driven feedback.

Conclusions: This study is best viewed as a promising pilot study. The findings suggest AI-powered AL may serve as an easily integrated and well-accepted method for supplementing formative feedback in simulated clinical encounters. Early findings suggest it may serve as a scalable supplement to direct observation, particularly in settings with limited faculty availability. Larger, multi-institutional studies are needed to evaluate generalizability, educational impact, and effectiveness across learner levels and clinical environments.

Attention-Deficit/Hyperactivity Disorder (ADHD) is one of the most prevalent neurobehavioral disorders in childhood. Although its pathophysiology is not fully understood, growing interest has focused on potentially modifiable factors, including iron metabolism. Serum ferritin, a marker of peripheral iron status, has been widely investigated in relation to ADHD due to iron's role in dopamine synthesis and neurodevelopment. This narrative evidence-based review aims to critically synthesize and interpret current clinical and mechanistic evidence regarding the association between serum ferritin levels and the pathophysiology of ADHD in the pediatric population. A literature search was conducted using PubMed and reference lists of relevant articles to identify studies published in the last decade that evaluated serum ferritin in children with ADHD. The available evidence included a limited number of clinical trials, systematic reviews, and one meta-analysis, with heterogeneous methodologies and outcomes. While some studies reported lower serum ferritin levels in children with ADHD and associations with symptom severity, others did not confirm these findings. Overall, current evidence is inconsistent and insufficient to support a definitive association between low serum ferritin levels and ADHD pathophysiology or to recommend routine ferritin assessment in clinical practice. Further well-designed, longitudinal studies are needed to clarify the role of iron status in ADHD and its potential clinical implications.

Pulmonary embolism (PE) remains a leading cause of sudden hemodynamic deterioration and death in emergency department patients. Although diagnostic algorithms frequently incorporate D-dimer testing, in patients with high clinical probability or hemodynamic instability, definitive imaging should not be delayed. We report a case of a 74-year-old man presenting with syncope, hypoxemia, and hypotension, in whom immediate computed tomography pulmonary angiography (CTPA) was performed without prior D-dimer testing due to strong clinical suspicion of high-risk PE. Imaging revealed extensive bilateral pulmonary emboli with radiological signs of right ventricular strain, which were subsequently supported by point-of-care echocardiography. Due to recent head trauma, systemic thrombolysis was contraindicated, and the patient was referred for urgent mechanical thrombectomy. This case highlights the importance of clinical judgment and early imaging in high-risk PE and emphasizes that laboratory testing should not delay life-saving diagnostic and therapeutic decisions in unstable patients.

Chronic arterial ulcers are associated with impaired healing and a high risk of infectious complications and limb loss. Bullous cellulitis represents a severe soft-tissue infection phenotype that may progress to extensive tissue necrosis. We report an 83-year-old woman with advanced atherosclerotic disease and a prior contralateral transfemoral amputation who developed bullous cellulitis complicating a long-standing circumferential distal lower-leg arterial ulcer, resulting in complete circumferential loss of skin and subcutaneous tissue with exposure of deep structures. After infection stabilization, the wound was managed with staged mechanical and chemical debridement, negative pressure wound therapy (NPWT) for wound-bed optimization, and definitive split-thickness skin grafting under NPWT bolster. Complete graft take was achieved without early complications. Limb salvage preserved the patient's mobility and quality of life, avoiding the functional consequences of bilateral major limb loss. The key novelty of this case is that even circumferential ischemic-infective necrosis, often presumed to mandate amputation, can be rendered graftable and salvaged through a strictly staged, NPWT-centered reconstructive strategy.

Background Volar locking plate fixation has become the preferred operative treatment for unstable distal radius fractures because it allows stable fixation and early mobilization. However, long-term clinical outcomes and early complications in Asian populations treated in routine practice remain less well documented. Methods This retrospective cohort study included 40 consecutive adult patients with unstable distal radius fractures treated with volar locking plates by a single hand and wrist surgeon at a university hospital between January 2012 and December 2021. Patients met predefined radiographic criteria for instability and were followed for at least two years. Radiographic parameters (radial inclination, palmar tilt, and ulnar variance) were assessed preoperatively, immediately after surgery, at three months, and at ≥2 years. Wrist range of motion, grip strength, Quick Disabilities of the Arm, Shoulder, and Hand (QuickDASH), Patient-Rated Wrist Evaluation (PRWE), and pain visual analog scale (VAS) scores were recorded preoperatively, at two weeks, three months, and at ≥2 years. Early complications within three months (carpal tunnel syndrome, median nerve palmar branch injury, and extensor pollicis longus rupture) were retrieved from medical records. Paired t-tests were used to compare changes over time. Results A total of 40 patients were included (mean age, 55.4 years), of whom 26 (65.0%) were women. Radiographic alignment improved after fixation and was maintained at ≥2 years. Patient-reported outcomes (QuickDASH and PRWE), pain, range of motion, and grip strength improved progressively, with minimal disability and pain at long-term follow-up. Early symptoms consistent with carpal tunnel syndrome occurred in seven (17.5%) patients; no median nerve palmar branch injury, extensor pollicis longus rupture, or flexor pollicis longus rupture was identified. Conclusions In this single-surgeon retrospective cohort with a minimum two-year follow-up, volar locking plate fixation for unstable distal radius fractures achieved durable restoration of radiographic alignment and progressive improvement in wrist-related pain and function. Patient-reported outcomes, range of motion, and grip strength improved over time, and major complications were uncommon; early symptoms consistent with carpal tunnel syndrome occurred in seven (17.5%) patients, and no extensor pollicis longus or flexor pollicis longus rupture was identified. Overall, these findings support volar locking plate fixation as a reliable treatment option for unstable distal radius fractures in routine clinical practice.

We report the case of a 15-day-old neonate presenting with multifocal osteoarticular infection, initially manifesting as septic arthritis of the right wrist, which rapidly progressed to involve multiple sites, including the right deltoid and left hip. The etiological agent was identified as methicillin-sensitive Staphylococcus aureus (MSSA). This case is notable for its multifocality, the severity of the clinical course in the neonatal period, and the association with a prior history of neonatal admission for severe hypernatremic dehydration.

The most influential timing of continuous renal replacement therapy (CRRT) in gravely ill patients with acutely severe, uncompensated renal dysfunction continues to be a subject of ongoing debate. Although earlier initiation has been hypothesized to limit metabolic disturbances and prevent downstream organ dysfunction, clinical trials have yielded inconsistent findings, in part because of variability in how "early" initiation is defined across studies. This meta-analysis, in conjunction with a systematic review, sought to examine the correlation between early versus delayed CRRT initiation and mortality, with analyses stratified according to initiation strategy, including clinical staging-based benchmark by Kidney Disease: Improving Global Outcomes (KDIGO) and biomarker-driven approaches using neutrophil gelatinase-associated lipocalin (NGAL). A literature search was conducted in PubMed, EMBASE, and the Cochrane Library to identify studies published between January 2015 and June 2025. Eligible studies included randomized controlled trials and observational investigations that compared early and delayed CRRT initiation among critically ill adults with acute kidney injury (AKI). The primary outcome of interest was all-cause mortality measured between 28 and 90 days or at the time of intensive care unit (ICU) discharge. Pooled relative risks (RR) and odds ratios (OR) were estimated using random-effects meta-analytic models, with subgroup analyses performed according to initiation criteria. Nine studies encompassing 2,349 patients were included (six randomized trials and three observational studies). Overall, early CRRT initiation was not associated with a statistically significant decrease in mortality compared with delayed initiation (risk ratio (RR) = 0.87; 95% confidence interval (CI), 0.69-1.10; p = 0.25; I² = 90.4%). Subgroup analysis demonstrated no significant mortality benefit with biomarker-guided (NGAL-based) early initiation (RR = 0.90; 95% CI, 0.41-2.01), whereas KDIGO-based initiation showed a borderline association favoring early therapy (RR = 0.75; 95% CI, 0.57-0.99), though heterogeneity remained substantial. No meaningful interaction was observed between initiation strategy and mortality.