Large language models (LLMs) are increasingly used in health professions education; however, the role of prompt design in shaping their outputs remains poorly understood in clinical training contexts. In dentistry, where the presentation of information, perceived credibility, and procedural reasoning are important, the effects of instructional framing and evidence requirements on artificial intelligence (AI)-generated educational responses are particularly relevant. This study examined whether instructional framing and evidence requirements were associated with rater-assessed perceived factuality, confidence of tone, stance orientation, citation behavior, safety notices, hedging, and response length in cavity preparation responses generated using the web-based ChatGPT-5. In a 2 × 2 factorial experiment, we manipulated instructional framing (patient-centered vs. skill-centered) and evidence requirement (evidence-required vs. no evidence) across 10 base prompt topics and four experimental conditions, yielding 40 outputs. Five trained raters independently coded each response for perceived factuality, confidence of tone, stance orientation, hedging, citation presence, safety notices, and response length. Inter-rater reliability was assessed using intra-class correlation coefficients and Fleiss' κ. Consensus scores were analyzed using factorial analyses of variance and chi-square tests. Requiring evidence was associated with greater citation presence (19/20, 95%, vs. 5/20, 25%; P<.001) and longer responses (P<.001). In exploratory analyses, it was also associated with higher ratings of perceived factuality (P=.015). Hedging and confidence of tone showed non-significant patterns. Instructional framing was associated with stance orientation (P=.006) but was not associated with response length. No refusals occurred, and safety notices were infrequent across conditions. Inter-rater reliability was high for citation presence but low or variable for several subjective measures, particularly perceived factuality and safety notices. Prompt design was associated with differences in the presentation, structure, and stance orientation of LLM-generated educational responses in dentistry. Evidence requirements increased citation inclusion and response length, whereas instructional framing was associated with the stance emphasized in the response. These findings suggest that deliberate, pedagogically aligned prompt design may support the development and evaluation of AI-generated content in dental education. However, the effects of prompt wording on objectively verified accuracy, clinical safety, and learning outcomes require further investigation.
Electronic health records (EHRs) are a valuable resource for generating real-world evidence. However, their utilization can be challenging as these reports are largely unstructured texts stored in image formats or accumulated scans or images, thereby hindering efficient data feature extraction. With the development of computer vision and large language models (LLMs), there is a growing opportunity to explore their application in overcoming these challenges. This paper explores the potential use of computer vision and LLMs to extract data from text-containing images of polysomnography (PSG) reports obtained from the sleep laboratory center of a tertiary care hospital in Thailand. We utilized a two-phase approach: (1) extracting text from image-based PSG reports using Differential Binarization Network (DBNet) within EasyOCR Python library, and (2) deriving feature values from the extracted text using ChatGPT-3.5 through task-specific prompt strategies. Performance was measured across different stages of the conversion process. Results show that computer vision and LLMs have the potential to substantially enhance the efficiency of feature extraction for evidence synthesis. The most common errors encountered in both phases were numerical, symbol, and character encoding errors. ChatGPT-3.5 reliably extracted features from sleep reports, with further error reduction achieved through improved prompt strategies. Although promising, we emphasize the need for extensive testing across diverse document qualities and conditions to fully understand the challenges and pitfalls of using computer vision and LLMs for feature extraction in real-world scenarios.
Retrospective identification of acute nonarteritic anterior ischemic optic neuropathy (NAION) cases is critical for research on risk factors. However, reliance on International Classification of Diseases (ICD) 10th edition coding for case identification has limited accuracy, and manual review of longitudinal electronic health records is time-intensive. The purpose of this study is to evaluate automated methods for retrospective identification of acute NAION cases using large language models (LLMs) that preserve patient privacy. Retrospective cross-sectional study. 165 patients with ≥1 ICD-10 code for ischemic optic neuropathy (H47.01∗) in the electronic health record at an academic medical center. Five locally deployed LLM models (Mistral Small 3.1, Magistral Small, Gemma3, MedGemma, GPT-OSS 20B) were used to implement 4 approaches for acute NAION diagnostic classification using unstructured ophthalmology records (basic prompting, retrieval-augmented generation [RAG], 2-step agentic workflow, and 3-step agentic workflow). Ten percent of subjects were used for prompt refinement. Large language model/approach diagnostic classifications were compared against expert neuro-ophthalmologist diagnoses based on chart review. Positive predictive value (PPV) of LLM approaches for acute NAION case identification with expert chart review diagnosis serving as gold standard. Secondary outcomes included negative predictive value, sensitivity, specificity, accuracy, F1 score, and distribution of LLM/approach classifications. 7/17 prompt refinement subjects and 58/148 testing subjects had acute NAION by expert chart review corresponding to PPV of 0.39 for ≥1 ICD code. Large language model approaches accurately identified 20 ± 12 (mean, standard deviation) acute NAION cases in the test set with PPV of 0.78 ± 0.16 and accuracy of 0.69 ± 0.06. The Mistral model using a 3-step agentic approach had the best-balanced performance (39 cases identified, 0.85 PPV, 0.82 accuracy, 0.75 F1 score). Privacy-preserving agentic LLM approaches can achieve high PPV for acute NAION case identification using unstructured ophthalmology longitudinal electronic health records. These results exceed the performance of using structured ICD codes to identify cases, offering a scalable, efficient method for case identification in retrospective research while maintaining patient confidentiality and local data control. This method has application for enhancing research efficiency and accuracy for studies on NAION risk factors, with potential applicability to other conditions requiring complex diagnostic review. Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
Spine patient-reported outcome measures (PROMs) frequently exceed recommended health literacy thresholds, limiting accessibility. Large language models (LLMs) such as ChatGPT can simplify medical text, but their effects on validated outcome instruments remain unclear. A cross-sectional analysis of validated spine PROMs was conducted. Seventy-seven PROMs identified in a prior readability analysis were revised using ChatGPT 4.0 through a standardized prompt instructing simplification to a sixth-grade reading level. Pre and postrevision readability metrics were assessed using Readable.com across multiple grade-level and linguistic indices. Revised PROMs were additionally evaluated for content fidelity using a predefined taxonomy assessing alterations in response scales, recall timeframes, and item meaning. Differences were analyzed using the Exact Sign Test (α = 0.05). Eighteen of nineteen linguistic parameters improved significantly following ChatGPT revision (p < .05). Word count decreased by 18%, sentence complexity declined, and all readability indices improved (p < .001). About 7 of 9 grade-level metrics achieved NIH/AMA sixth-grade readability compliance following revision. However, 59.7% of PROMs contained at least one content-related error. The most common errors included alteration of validated response scales (23%), omission or simplification of recall timeframes (18%), and consolidation of multiple items into single prompts (16%). ChatGPT 4.0 substantially improved the readability of validated spine PROMs but frequently introduced structural modifications affecting validated content. Although LLMs may enhance linguistic accessibility, unsupervised PROM revision risks compromising measurement integrity. Structured implementation strategies incorporating expert review and psychometric validation may be necessary before AI-modified PROMs can be integrated into spine outcomes research.
RUNX1 familial platelet disorder with associated myeloid malignancy (RUNX1-FPDMM) is an autosomal dominant disease that mimics immune thrombocytopenia (ITP). We report a case of a woman diagnosed with ITP who exhibited isolated megakaryocytic dysplasia in the bone marrow and a poor response to prednisolone and intravenous immunoglobulin. Ten years later, the patient was correctly diagnosed following her report of hematologic abnormalities across three generations, which prompted genetic testing. This case highlights that ITP should remain a diagnosis of exclusion throughout follow-up, and atypical findings or a suggestive family history should prompt reconsideration of inherited thrombocytopenia.
Intensive agriculture has led to significant soil degradation and nutrient surpluses in the EU, prompting the need for more sustainable practices. Organic agriculture is often considered a strategy to produce food more sustainably, albeit with challenges such as yield reduction. Here, we estimate the impacts of expanding organic agriculture to 25% of agricultural land in the EU and UK-a key target of the European Commission's Farm to Fork Strategy-using a spatially explicit biogeochemical model, focusing on changes in crop yields in combination with C, N, and P fluxes and stocks. Achieving the 25% target could improve 0.8%-1.4% of degraded soil areas (out of ~49.0 million ha that exceed at least one degradation criterion based on N surplus, excess soil P, or soil erosion thresholds), quantifiably reduce dependency on mineral fertilizers (P by 15.8%-16.0% and N by 15.2%-15.7%), and either lessen or maintain current eutrophication impacts on freshwater fish. However, these benefits come with a trade-off of about 6.5% reduction in average yields of grain and tuber, partly due to increased fodder production replacing grain and tuber crops in the rotation. Applying the 25% target area EU-wide or per member state minimally affects the overall results. An additional cover crop scenario demonstrated the benefits of increased N fixation, improved yields, and mitigating SOC decline, but also resulted in higher impacts on freshwater biodiversity due to increased N losses. Thus, it highlights the importance of considering interconnected N, P, and C cycles alongside crop yields and potential feedbacks. This approach offers valuable insights into the synergies and trade-offs between agricultural practices and environmental consequences at high spatial resolution.
Congenital complete heart block (CCHB) is a rare condition that may lead to severe bradycardia and hemodynamic instability at birth, particularly in preterm infants with limited myocardial reserve. The use of transcutaneous pacing (TCP) in the delivery room has rarely been reported in neonates with CCHB, and extracorporeal membrane oxygenation (ECMO) during neonatal intensive care has sporadically been described. We report a preterm infant with antenatally diagnosed isolated CCHB who developed severe bradycardia and hemodynamic compromise immediately after birth despite adequate ventilation. Emergency TCP achieved prompt electrical capture and rapid hemodynamic stabilization in the delivery room. During attempted early permanent pacemaker implantation in the Neonatal Intensive Care Unit (NICU), the patient developed intraoperative cardiorespiratory arrest requiring venoarterial ECMO support and placement of a temporary epicardial pacing system. After myocardial recovery, a permanent pacemaker was successfully implanted, and the infant was discharged with normal ventricular function. TCP may provide rapid hemodynamic stabilization in the delivery room for neonates with life-threatening bradycardia due to CCHB, and it may serve as a bridge to more definitive pacing modalities. This case suggests that a stepwise stabilization approach may be considered in critically unstable neonates with CCHB, incorporating delivery-room transcutaneous pacing followed by extracorporeal support in the NICU to allow deferred definitive pacing. In selected critically unstable patients, ECMO may provide life-saving support during surgical intervention.
Wilson disease is an autosomal recessive disorder that affects copper metabolism due to mutations in the ATP7B gene. It causes problems with the liver and the nervous system. On magnetic resonance imaging (MRI), the typical sign is the "face of the giant panda" in the midbrain. A rarer sign, called the "panda with bright eyes," suggests more extensive brainstem involvement and is not often seen. A 21-year-old man developed worsening behavior changes, mood swings, and trouble with his studies. He later had tremors in both arms and mild speech difficulties. His liver tests were abnormal, and his ceruloplasmin level was low at 8 mg/dL. An eye exam showed Kayser-Fleischer rings in both eyes. Brain MRI showed symmetrical T2/FLAIR hyperintensities in the caudate nuclei, putamina, globus pallidi, thalami, posterior limbs of the internal capsules, and both the superior and middle cerebellar peduncles, as well as the pons. Increased T2 signal in the red nuclei and substantia nigra produced the "panda with bright eyes" sign. There was also diffusion restriction in both globus pallidi and thalami. The Leipzig score confirmed Wilson disease. The patient started D-penicillamine treatment and showed clinical improvement. Radiologists need to recognize both common and rare MRI features of Wilson disease, especially when neuropsychiatric symptoms are present. Spotting the "panda with bright eyes" sign can help with early diagnosis, guide metabolic testing, and allow prompt chelation therapy, which can improve neurological outcomes.
Intraoperative magnetic resonance imaging (iMRI) for the resection of newly diagnosed glioblastoma has shown efficacy comparable to fluorescence guidance; however, its role in recurrent glioblastoma (recGB) remains unclear. This study evaluated the efficacy and safety of iMRI-guided recGB surgery. Consecutive patients with recGB undergoing iMRI-guided re-resection between 2015 and 2023 were retrospectively analyzed. Contrast-enhancing (CE) tumor volumes from preoperative (3T), intraoperative (1.5T), and early postoperative (epMRI, 3T) scans were assessed per RANO Resect criteria. The impact of iMRI on intraoperative decision-making for additional resection (AR), functional outcomes, and survival was evaluated. A total of 150 patients were included. Complete CE tumor resection was intended in 85% (n = 127). iMRI prompted AR in 77% (n = 115), increasing RANO class 1-2 resections from 58% on iMRI to 85% on epMRI. A "RANO-switch" (conversion from class 3 on iMRI to class 1-2 on epMRI) occurred in 27% (n = 41). Preoperative CE tumor volume was the only independent predictor of AR (p = 0.001), with 6.9 ml identified as the cut-off above which AR was significantly more likely to achieve a "RANO-switch." Neurological deterioration was not associated with AR (transient: 15% vs 16%; permanent: 2% vs 3%). Median survival after re-resection was 11 months. Gross total resection (residual tumor volume ≤0.175 ml), but not RANO class, independently predicted improved survival (HR 0.50, p = 0.006). In recGB, where a real-time intraoperative information about RTV could be relevant, iMRI significantly improved the extent of resection without increasing the risk of neurological deficits. Larger preoperative CE tumor volumes were associated with a greater resection benefit from iMRI, supporting its efficacy and safety in recGB surgery.
The Dundee Polyprofessionalism Inventory I: Academic Integrity is a formative, non-scaling, descriptive test used to promote self-assessment, reflection and to evaluate students' perception on academic misconduct. We report the framework and multistage methodological process of cross-cultural adaptation to Brazilian Portuguese and present validity evidence linking the instrument to educational use. Following an 11-stage adaptation and validation process, we gathered: (i) content evidence via a 13-member expert panel using Lawshe's Content Validity Ratio (CVR); (ii) qualitative response-process evidence via cognitive debriefing with 65 students; and (iii) reliability estimates from an online administration to 582 medical students (years 1-6) from public and private schools nationwide. Internal consistency was estimated with Cronbach's α, and McDonald's ω. After iterative revision, all items met the critical CVR for 13 judges (≥ 0.538, p < 0.05). Cognitive debriefing improved role framing and scenario specificity. Reliability was high (α = 0.921; ω = 0.924). Students clearly understood the ten-level sanction hierarchy and considered the scenarios credible and relevant to the academic environment. The Brazilian version of Dundee Polyprofessionalism Inventory I: Academic Integrity shows strong content and response-process evidence and high reliability estimates, supporting its use. Its formative, scenario‑based design provides a culturally attuned tool for teaching and longitudinally tracking perceptions, prompting reflection and guiding educational decisions. The online version contains supplementary material available at 10.1007/s40670-026-02710-x.
Immunotactoid glomerulopathy (ITG) is a rare glomerulonephritis characterized by the deposition of hollow-centered microtubular structures on electron microscopy (EM), and by IgG, C3, and restricted light chain deposition on immunofluorescence (IF) staining. It is often associated with hematological malignancies, including lymphoma and lymphocytic leukemia. A 71-year-old Japanese woman presented with increased proteinuria (urine protein-to-creatinine ratio, 4.32 g/gCr) and impaired kidney function (serum creatinine, 1.24 mg/dL). A kidney biopsy was performed, and routine frozen-IF revealed positivity for C3 and κ-light chain along the glomerular basement membrane, while IgG was negative. EM demonstrated electron-dense deposits composed predominantly of microtubules with hollow centers measuring 15-20 nm in diameter and arranged in parallel arrays, raising suspicion of ITG. Mass spectrometry and paraffin-IF following pronase K pretreatment detected IgG2 along the capillary walls, leading to the diagnosis of monoclonal ITG with masked IgG. In addition, the presence of paraproteins in serum and urine prompted bone marrow examination, which confirmed symptomatic multiple myeloma. With chemotherapy, the M-protein level decreased, proteinuria improved to less than 0.5 g/gCr, and renal function remained stable. We describe a rare case of monoclonal ITG with masked IgG, diagnosed by mass spectrometry and paraffin-IF, in a patient with symptomatic multiple myeloma. Early diagnosis and therapy for multiple myeloma stabilized renal function and reduced proteinuria. When a discrepancy between IF and EM findings is observed, especially when false-negative immunoglobulin staining is suspected, restaining with paraffin-IF or evaluation by mass spectrometry should be considered to ensure accurate diagnosis and appropriate treatment.
A man in his early 50s with no significant prior renal history was admitted with acute kidney injury and sepsis secondary to right lower limb cellulitis, requiring prompt multidisciplinary management and further evaluation of the underlying etiology. Initial treatment included hemodialysis, following which the patient developed polyarticular septic arthritis (PASA), a rare condition. Examination revealed significant swelling and tenderness in multiple joints, and microbiological analysis confirmed a Staphylococcus aureus infection. Hemodialysis precipitated the bloodstream infection, as blood cultures were negative before hemodialysis but positive for Staphylococcus aureus post-dialysis. The patient underwent multiple joint washouts and was treated with intravenous vancomycin and linezolid. The patient's renal function normalized after treatment, and his symptoms resolved without recurrence. This case highlights the potential for PASA in an immunocompetent individual after a single hemodialysis session, emphasizing the role of catheter-related bloodstream infection (CRBSI) in its pathogenesis and underscoring the importance of timely diagnosis and treatment to prevent severe outcomes. Such presentations underscore the importance of heightened clinical vigilance, as delayed recognition can result in significant morbidity.
Aliovalent doping converts colloidal ZnO nanocrystals (NCs) into plasmonic n-type degenerate semiconductors, but its influence on nonequilibrium carrier relaxation remains insufficiently understood. Here, we show that oxygen-vacancy-related defects introduced by doping promote ultrafast hole trapping in indium-doped ZnO NCs. Raman spectra reveal a monotonic increase in vacancy-related phonon signatures with increasing In/Zn ratio, while broadband femtosecond transient absorption spectroscopy resolves a concomitant increase in the contribution of a sub-100 ps trap-associated component. The fast decay component is assigned to defect-mediated hole trapping, as trion Auger recombination can be ruled out based on the fluence-independent kinetics and size-based estimates. Rapid hole removal suppresses prompt electron-hole recombination, thereby preserving photogenerated electrons that modulate the localized surface plasmon resonance for more than 100 μs. These results establish a correlation among aliovalent doping, Raman-active vacancy modes, and defect-mediated hole trapping in plasmonic NCs.
Cardiac fibroma is the second most common primary cardiac tumor in children but is uncommonly diagnosed in adulthood, where it is usually discovered incidentally. Neither the 2020 ESC guidelines nor the 2025 AHA/ACC scientific statement on sports cardiology specifically address exercise recommendations for this entity, and data on fitness-for-duty determination in military personnel with incidental cardiac tumors are nonexistent. We report the case of a 25-year-old active-duty soldier in whom routine electrocardiographic screening prompted transthoracic echocardiography that unexpectedly identified a well-circumscribed intramyocardial mass (20 × 20 mm) in the basal interventricular septum. Cardiac MRI demonstrated features highly consistent with a fibroma. Comprehensive assessment including repeated exercise stress testing, exercise echocardiography with hemodynamic evaluation, and Holter monitoring was unremarkable. After multidisciplinary evaluation, a conservative strategy was adopted. Recreational sports participation was authorized based on a structured, stepwise risk assessment. Full operational fitness was restricted, but a graded approach to military duties was implemented, acknowledging that fitness-for-duty in military populations is not a binary determination. Three-year follow-up confirmed clinical and imaging stability. This case adds to the limited evidence guiding exercise and fitness-for-duty decisions in adults with cardiac fibroma.
Improving clinical reasoning is a national priority to reduce medical error. This commentary advocates for "strong opinions, loosely held" as a cognitive aid to improve reasoning and retention in medical education. Learners should commit confidently to decisions while remaining open to revision as new evidence emerges. Grounded in prediction error theory, which emphasizes memory retention when expectations are upset, this approach mirrors expert clinician strategies. Case-based curricula can operationalize this by prompting early hypotheses and reassessment. Despite concerns about overconfidence, we view discomfort as natural when transitioning from passive to active learning, ultimately promoting autonomy, improved retention, and deeper engagement.
A gated scintillator-based α-particle time-of-flight (αTOF) spectrometer is developed for real-time diagnosis of nuclear reaction products in harsh laser-plasma experiments. The system employs fast-response EJ-204 plastic scintillator coupled with a gated microchannel plate photomultiplier tube and uses gating technique to suppress intense prompt x/γ-ray and relativistic electron radiation backgrounds. Calibration experiments are performed using 100-250 keV protons and 100-300 keV α-particle beams from a 320 kV high-voltage platform. The measured response efficiency increases linearly with particle energy and agrees well with theoretical calculations based on the ionization quenching model. The spectrometer is validated in laser-driven proton-boron fusion experiments at the XG-III laser facility, where a distinct α-particle peak at 3.65 MeV from the dominant 11B(p, α1)8Be* reaction channel is clearly resolved. The results demonstrate that the αTOF spectrometer enables real-time, shot-to-shot acquisition of energy spectra and yield measurements of α particles in high-radiation harsh environments. This work provides a robust online diagnostic tool for laser-driven nuclear reaction studies, with future improvements aimed at extending MeV energy calibration and developing multiplexed detection systems for quantitative yield measurements.
Ectopic pregnancy is a potentially life-threatening gynecological emergency and an important cause of first-trimester maternal morbidity. It may present with a wide spectrum of clinical manifestations, ranging from asymptomatic early diagnosis to catastrophic rupture with hemodynamic instability. Prompt diagnosis and timely intervention are crucial for successful outcomes. We present a case series of six patients managed for ectopic pregnancy at a tertiary care centre with varied presentations and management approaches. The series included three cases of ruptured tubal ectopic pregnancy, one unruptured tubal ectopic pregnancy, one unruptured rudimentary horn ectopic pregnancy, and one case of impending tubal abortion. One patient with a ruptured tubal ectopic pregnancy presented in a hemodynamically unstable condition and underwent emergency laparotomy. The remaining five patients were managed laparoscopically. Diagnosis in all cases was established by clinical assessment, serum beta-human chorionic gonadotropin levels, and ultrasonography findings. Surgical management was individualized according to the patient's clinical status, site of ectopic pregnancy, and intraoperative findings. Five patients had an uncomplicated postoperative recovery. One patient with a ruptured tubal ectopic pregnancy managed laparoscopically developed postoperative acute kidney injury, requiring further intensive management. Subsequent recovery was achieved with appropriate multidisciplinary care. All patients ultimately recovered satisfactorily. This case series highlights the varied clinical spectrum of ectopic pregnancy and emphasizes the importance of early diagnosis, individualized surgical management, and vigilant postoperative monitoring for optimal outcomes.
While delayed removal from play has been associated with worse outcomes following sport-related concussions (SRC), factors that predict delayed removal (vs. immediate) remain poorly understood. This study aimed to identify predictors of delayed removal following an SRC. A retrospective analysis included athletes aged 12-23 who presented to a regional sports concussion center within one day of injury. Patient demographics, injury characteristics, and clinical recovery metrics were extracted from medical records. Removal timeline was categorized as immediate (removed from play at time of injury) or delayed (continued participation). Comparisons across groups and a multivariable logistic regression model were conducted to identify predictors of delayed removal. In 291 athletes (29.6% female, median age = 15.6 [IQR = 14.5-16.8]), 109 (37.5%) had delayed removal (29.4% female; median age 15.7 [IQR 14.5-16.9]). Sex, race, sport, school, and competition type did not differ significantly between immediate and delayed removal groups. Athletes with loss of consciousness (LOC) had over 81% lower odds of delayed removal (OR = 0.19, 95%CI: 0.08-0.44; p < 0.01), and those evaluated on the field had 70% lower odds of delayed removal (OR = 0.30, 95%CI: 0.17-0.54; p < 0.01). Initial symptom scores were lower among those immediately removed (19.0 [IQR = 6.0-38.2]) compared to the delayed removal group (24.0 [IQR = 11.0-44.0]; p = 0.05). Return-to-learn, symptom resolution, and return-to-play timelines did not differ significantly between groups. On-field evaluations and observable clinical signs such as LOC strongly reduced risk of delayed removal from play after SRC. These findings emphasize the critical role of athletic trainers and prompt sideline recognition in reducing delayed removal and acute symptom burden.
A 61-year-old male with hypertension and remote 35-year history of smoking was found to have a large peripherally calcified left renal artery aneurysm (RAA) on computer tomography imaging. An initial attempt to stent and coil-embolize the aneurysm was unsuccessful despite sufficient access due to the angulation and tortuosity of the aneurysmal sac which was not conducive to a typical stent graft. The patient ultimately declined to undergo open surgical repair of the aneurysm and thus prompted the consideration of stent grafts typically reserved for neurointerventional cases. In this report, we present a case in which a large, complex Rundback type 1 renal artery aneurysm was treated using a flow-diverting stent, a device which is typically used to treat intracranial aneurysms. The case was a technical success and effectively treated the patient's RAA. The use of a neurovascular stent within visceral arteries adds to the existing literature describing the use of Pipeline flow-diverting stent in renal vasculature and demonstrates an alternate treatment option to traditional stenting which may better preserve kidney perfusion.
Physiological neonatal jaundice typically resolves within the first two weeks of life. Persistence beyond this period should prompt evaluation for neonatal cholestasis, which may represent the first manifestation of an underlying metabolic disorder. We report a six-year-old boy who presented at two months of age with cholestatic jaundice, hepatosplenomegaly, and elevated transaminases. Initial findings suggested congenital cytomegalovirus infection; however, liver biopsy was nonspecific, and further investigations were negative, leading to a diagnosis of idiopathic giant cell hepatitis. Although jaundice resolved, hepatosplenomegaly persisted. Developmental delay became apparent at three years, followed by progressive neurological impairment, including ataxia, dysphagia, and vertical supranuclear gaze palsy. Biochemical testing revealed elevated oxysterols, and molecular analysis confirmed Niemann-Pick disease type C (NPC) due to pathogenic NPC1 variants. Treatment with miglustat resulted in transient clinical improvement, and the patient was subsequently enrolled in a phase III clinical trial evaluating N-acetyl-L-leucine. Niemann-Pick disease type C should be considered in children with unexplained neonatal cholestasis and progressive neurological deterioration, as early recognition may enable timely diagnosis and access to disease-modifying therapies, potentially improving clinical outcomes.