Search Results (723)

Artificial intelligence (AI) is rapidly transforming cardiovascular medicine, with growing applications in pediatric cardiology. AI techniques, particularly machine learning and deep learning, enable the analysis of complex and heterogeneous data, supporting diagnosis, risk stratification, and clinical decision-making. This paper provides an overview of current AI applications in this field, discusses existing challenges, and explores future perspectives. In pediatric cardiology, AI has shown promising results across multiple domains. In electrocardiography, AI algorithms improve diagnostic accuracy and enable early detection of cardiac conditions, even in asymptomatic patients, while facilitating telecardiology-based care pathways. In cardiac auscultation, AI-assisted digital stethoscopes enhance the distinction between innocent and pathological murmurs, supporting primary care physicians and optimizing referral to pediatric cardiologic centers. Multimodality imaging represents one of the most advanced areas of AI applications. In echocardiography, magnetic resonance and computed tomography, AI improves image acquisition, view classification, and automated quantification, contributing to more standardized and reproducible assessments. Additionally, emerging technologies such as virtual reality, integrated with AI, offer innovative tools for education, surgical planning, and patient-specific modelling. Despite these advances, several limitations remain, including limited availability of large pediatric datasets, challenges in model generalizability and issues related to interpretability and integration into clinical workflows. In conclusion, AI represents a powerful complementary tool in pediatric cardiology, with the potential to improve diagnostic accuracy, optimize healthcare resources and support the transition toward precision medicine. Full article

Pulmonary vein stenosis (PVS) is a rare and devastating condition affecting infants and children, characterized by progressive intimal hyperplasia, myofibroblast proliferation, and extracellular matrix deposition, leading to pulmonary hypertension and right heart failure. Despite multimodal interventions including surgery and catheter-based approaches, long-term outcomes remain poor due to high rates of restenosis and disease progression. The development of representative animal models has been instrumental in unraveling the complex pathophysiology of PVS and identifying potential therapeutic targets. This review comprehensively examines the evolution of PVS animal models—from large animals to recently established rodent models—and synthesizes insights gained regarding key pathogenic pathways and their therapeutic implications in guiding associated clinical trials in pediatric patients. We discuss evidence supporting mammalian target of rapamycin (mTOR) inhibition, TGF-β, platelet-derived growth factor (PDGF) and vascular endothelial growth factor (VEGF) targeting, and emerging strategies including fibroblast activation protein (FAP) inhibition and YAP/β-catenin pathway modulation. The recent development of neonatal rat PVS models has accelerated translational research by enabling cost-effective, high-throughput evaluation of candidate therapies. We propose a mechanistic framework integrating these pathways and discuss future directions for precision medicine approaches in PVS. Full article

Background: Conjugated hyperbilirubinemia in early infancy is a critical indicator of hepatobiliary dysfunction. Prompt and accurate identification is essential to diagnose cholestatic liver disease (CLD), particularly biliary atresia. Current guidelines define conjugated bilirubin (CB) ≥ 1 mg/dL as abnormal, irrespective of total bilirubin (TB). This study aimed to evaluate whether combining absolute and relative CB thresholds improves diagnostic performance for CLD. Methods: We retrospectively analyzed all infants aged ≤6 months of chronological age with CB ≥ 1 mg/dL admitted to the Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Austria, between January 2004 and February 2025. During that period, 116,104 infants were born at our hospital catchment area; 3119 of these underwent bilirubin fractionation, and 257 infants (0.2% of total births) had a CB ≥ 1 mg/dL and were included in the analysis. Clinical and biochemical data were extracted. Diagnostic performance of the absolute (CB ≥ 1 mg/dL) and in combination with the relative (CB ≥ 20% of TB) thresholds was assessed using receiver operating characteristic (ROC) analysis for the detection of CLD. Results: Among 257 infants, 47 (18%) were diagnosed with CLD. The median age at the time of blood sampling was 18 days (IQR 9–31). The combined criterion (CB ≥ 1 mg/dL and ≥20% of TB) achieved 100% sensitivity and 61.2% specificity (AUC = 0.82, 95% CI 0.79–0.92; p < 0.001). Implementation of the combined cut-off reduced the number needed to screen from 5.5 to 2.7, representing nearly a twofold improvement in diagnostic efficiency. Conclusions: Applying both absolute (≥1 mg/dL) and relative (≥20% of total bilirubin) CB thresholds substantially improves detection of neonatal CLD in early infancy. This combined approach maintains full sensitivity while reducing false positives and unnecessary investigations, thereby enhancing diagnostic efficiency in early infancy. Full article

Background/Objectives: Very early onset inflammatory bowel disease (VEO-IBD), frequently associated with monogenic defects, is increasingly recognized worldwide but remains poorly characterized in Vietnam. This study aimed to characterize the clinical phenotypes and genetic spectrum of Vietnamese children with VEO-IBD. Methods: We conducted a retrospective cohort study at a tertiary pediatric referral center in Vietnam from July 2016 to January 2026. Clinical, laboratory, endoscopic, histopathological, genetic, and treatment data were systematically collected and analyzed. Monogenic variants were identified using next-generation sequencing and classified according to ACMG criteria. Results: Thirty-six children were included, with a median age at onset of 7.5 months, and 72.2% presenting before 24 months. Crohn’s disease predominated (72.2%). Disease burden was high, with growth impairment in 75.0% and anemia in 91.7%. Extraintestinal manifestations were frequent, particularly recurrent infections (72.2%), dermatitis (44.4%), and oral ulcers (44.4%). Perianal disease occurred in 58.3%, with early complications including perianal ulcer (44.4%), perianal abscess (30.6%) and fistulas (33.3%). Inflammatory markers were markedly elevated, and disease activity indices indicated moderate-to-severe disease at diagnosis. Genetic testing was performed in 91.7% of patients, identifying monogenic etiologies in 30.3%. Identified variants involved genes related to immune regulation (IL10RA/IL10RB, FOXP3, XIAP), autoinflammation (TNFAIP3), host defense (CYBB), and epithelial function (MYO5B). Conclusions: Monogenic etiologies account for a substantial proportion of VEO-IBD and are associated with distinct clinical phenotypes and therapeutic implications. Early integration of genomic testing with clinical phenotyping is essential to improve diagnostic precision and enable pathway-based treatment, supporting precision medicine in pediatric IBD. Full article

Background/Objectives: International guidelines advocate for personalized vaccination protocols using point-of-care (POC) antibody titration to identify dogs requiring boosters for CPV-2, CDV, and CAdV-1. As traditional venipuncture can be challenging in specific patients, this study evaluate the clinical agreement of a novel minimally invasive capillary blood sampling technique (ear-prick) for core vaccine antibody titration. Methods: Paired blood samples were collected from 55 healthy dogs using venipuncture and an ear-prick technique with a portable lancet. Antibody titers were determined using a semi-quantitative POC kit (VacciCheck^® Canine). The procedure was optimized comparing 28G and 21G lancets, with the latter used in 43 dogs to ensure adequate blood flow. Comprehensive statistical methods evaluated the correlation and agreement between the two sampling techniques. Results: Statistical analysis showed no significant differences between sampling methods (p > 0.05). In the optimized group (21G lancet), full match rates reached 81.4% for CPV-2, 76.8% for CDV, and 74.4% for CAdV-1. Clinical concordance was exceptionally high: 95.3% for CPV-2, 90.7% for CDV, and 100% for CAdV-1. Statistical analysis confirmed perfect agreement (1.00) for CPV-2 and CAdV-1, and moderate agreement (0.48) for CDV. Conclusions: The ear-prick technique using a 21G lancet is a reliable, minimally invasive alternative to venipuncture for antibody titration. This method simplifies clinical procedures and facilitates personalized immunization monitoring. Given the minimal blood volume required, it represents a versatile approach for evaluating immune status and protection levels to core vaccines in diverse settings, including pediatric and shelter medicine. Full article

Background: Due to dysbiosis, intestinal barrier dysfunction, and immunosuppressive therapy, pediatric inflammatory bowel disease (PIBD) patients are more susceptible to infections. However, data on bacterial gastrointestinal (GI) infections in this population are scarce, and no guidelines explicitly address immunosuppressive therapy management during such infections. This single-center study aims to address these knowledge gaps. Methods: A retrospective study of bacterial GI infections was conducted in PIBD patients aged 0–18 years, treated between 2011 and 2021 at the Department of Pediatrics and Adolescent Medicine, Medical University of Graz. Data to assess the study endpoints were extracted from the hospital information system. Results: A total of 139 PIBD patients were screened for bacterial GI infections. The mean follow-up time was 49 months (standard deviation ±33) and the total follow-up time amounted to approximately 473 person-years. Fourteen patients developed infections, with three experiencing them twice, resulting in 17 cases of infection. Most infections were caused by opportunistic bacteria, and 10 infections were treated with antibiotics (11 antibiotic prescriptions in total). At infection onset, 12 patients were on (combined) immunosuppressive therapy, including corticosteroids (3 patients), immunomodulators (9 patients), and/or biologics (3 patients). Six infections required escalation of immunosuppressive therapy due to increased PIBD activity. Hospitalization was required in five cases, and one Clostridioides difficile infection progressed to sepsis, necessitating intensive care unit admission. This corresponds to an incidence of three infections (95% confidence interval 1.75–4.80) and 0.2 severe infections per 100 person-years (95% confidence interval 0.01–1.11). Conclusions: The incidence of bacterial GI infections was 3 per 100 person-years (95% confidence interval: 1.75–4.80), with most cases being clinically mild. Clostridioides difficile was the most common pathogen. Immunosuppressive therapy was generally continued or intensified, when necessary, while antibiotic therapy was administered as indicated. Full article

Background: Antibiotic resistance (ABR) is a critical global health threat, disproportionately affecting low- and middle-income countries (LMICs) where systemic constraints, economic pressures and sociocultural factors drive inappropriate antibiotic use. While quantitative studies describe prevalence patterns, they fail to capture the underlying motivations and contextual barriers influencing prescribing and dispensing behaviors. This systematic review synthesizes qualitative evidence on the perceptions of healthcare professionals, patients, and caregivers regarding antibiotic use and explores the barriers and facilitators for implementing antibiotic stewardship programs in LMIC healthcare settings. Methods: We conducted a systematic review following PRISMA 2020 guidelines, based on a registered protocol in PROSPERO ID: CRD42024583749. Searches were performed in Medline, Embase, Cochrane Library, Web of Science, and Google Scholar for English-language studies published between 2014 and 2024. Qualitative and mixed-method studies examining stakeholder perspectives on antibiotic use and antibiotic stewardship implementation in LMICs were included. Studies were excluded if they focused exclusively on pediatric or neonatal populations, veterinary medicine, or quantitative outcomes without qualitative components. The data were analyzed using thematic analysis to identify and categorize codes and identify themes following methodological quality assessment of included studies using the Critical Appraisal Skills Programme Qualitative Studies Checklist by two independent reviewers. Results: Out of 2214 studies screened, a total of 119 studies from 33 LMICs were included, encompassing over 4000 participants across hospital, primary care, and community settings. Five interlinked themes emerged: (1) antibiotic use as a pragmatic response to diagnostic uncertainty and resource constraints; (2) financial and commercial drivers shaping prescribing and dispensing practices; (3) the disconnect between knowledge, sociocultural norms, and clinical behavior; (4) multi-level structural and professional barriers to antibiotic stewardship implementation; and (5) the critical role of health system vulnerabilities in perpetuating misuse. Conclusions: Inappropriate antibiotic use in LMICs reflects rational adaptations to systemic limitations rather than isolated knowledge gaps. Effective ABS strategies must address structural deficiencies, economic incentives, and sociocultural norms, while integrating context-specific interventions that strengthen health systems and engage all levels of care. The findings should, however, be evaluated in light of the geographic unevenness of the evidence base, the exclusion of non-English and gray literature, and lack of certainty assessments for synthesized themes. Full article

Neurodegenerative diseases (NDDs) in children represent a heterogeneous group of rare but collectively significant disorders characterized by progressive neurological decline, developmental regression, and substantial morbidity and mortality. Unlike adult-onset neurodegeneration, pediatric conditions are predominantly genetic and frequently arise from defects in fundamental cellular pathways, including lysosomal degradation, mitochondrial oxidative phosphorylation, peroxisomal lipid metabolism, and myelin maintenance. This comprehensive review synthesizes current knowledge regarding the epidemiology, molecular classification, pathophysiology, and emerging therapeutic strategies of major pediatric neurodegenerative disorders. Epidemiological data indicate a “rare-but-many” landscape, where individually uncommon diseases collectively impose a measurable population burden. Mechanistically, disease progression reflects converging processes such as toxic substrate accumulation, impaired autophagy–lysosome flux, mitochondrial bioenergetic failure, oxidative stress, neuroinflammation, and glial dysfunction. Representative groups discussed include lysosomal storage disorders, leukodystrophies, mitochondrial encephalopathies, peroxisomal disorders, and other monogenic neurodegenerative syndromes. Advances in next-generation sequencing, metabolic profiling, and neuroimaging have substantially improved diagnostic accuracy and enabled earlier detection, including through newborn screening programs. Therapeutic paradigms are shifting from primarily supportive care toward mechanism-based interventions, including enzyme replacement therapy, hematopoietic stem cell transplantation, substrate reduction strategies, and gene therapy approaches. Early molecular diagnosis is increasingly recognized as critical for optimizing outcomes, particularly in disorders amenable to presymptomatic intervention. Continued integration of genomic medicine, standardized epidemiologic surveillance, and translational research will be essential to refine disease classification, improve prognostication, and expand access to targeted therapies. Collectively, pediatric neurodegenerative diseases exemplify the intersection of developmental neurobiology and inherited metabolic dysfunction, underscoring the need for multidisciplinary, precision-based clinical strategies. Full article

Background/Objectives: Pediatric obstructive sleep apnea (OSA) is a complex disorder with a variable presentation and often challenging diagnostic testing. The history and physical examination in pediatric OSA frequently differ from those in adults. The treatment options are multifaceted and must be tailored to the individual patient. Artificial intelligence (AI) modalities currently employed in pediatric sleep medicine face several important limitations: modality fragmentation, lack of explainability, and limited semantic integration. Method: Our team proposes a new vision for AI and pediatric sleep medicine. This platform is based on a knowledge graph (KG) framework integrating structured and unstructured data to enable reasoning, personalization, and clinical decision support. Results: This framework represents a conceptual architecture; it has not yet been empirically implemented, and the use cases described herein are illustrative of its intended capabilities. Components of the infrastructure developed for similar applications have been successfully implemented. The quantitative feasibility pilot KG represented 100% multimodal data with >90% semantic completeness. Conclusions: Fully realized and deployed into the clinical space, this pediatric OSA KG system will enhance tertiary care programs and help project tertiary-level pediatric care into underserved regions. Full article

Objectives: To evaluate how often pain is assessed and treated in pediatric trauma patients transported by Emergency Medical Services (EMS) to a pediatric emergency department (ED), and to compare current practice with national recommendations of the Polish Ministry of Health for prehospital pediatric pain management. Methods: We conducted a retrospective analysis of EMS and ED documentation for all trauma patients under 18 years of age transported to the Pediatric Teaching Hospital of the University Clinical Center of the Medical University of Warsaw between 1 January and 31 December 2021. A total of 981 patients with injury or suspected injury or burns were included without exclusion criteria. For patients with documented pain scores, we analyzed pain intensity (0–10), the scales used [Visual Analog Scale (VAS), Numerical Rating Scale (NRS), Wong–Baker Faces Pain Rating Scale (FACES)], body region injured, Glasgow Coma Scale (GCS) score, suspected alcohol or psychoactive substance use, and type and route of analgesic administration. We further evaluated non-pharmacological interventions, pain reassessment, and achievement of at least 50% pain reduction, as defined in national guidelines. Statistical analysis included Student’s t-test or ANOVA for quantitative variables and maximum likelihood chi-square tests for qualitative variables (α = 0.05). Results: Pain was assessed in 839/981 (85.5%) patients; 651/839 (77.6%) reported pain, most frequently of moderate intensity. Despite this, only 208/981 (21.2%) patients received analgesics prehospitally. Morphine and paracetamol were the most frequently used drugs, predominantly administered intravenously, while non-opioid monotherapy was commonly used in patients with lower baseline pain scores. Less than half of all patients received any non-pharmacological intervention whatsoever. Pain was reassessed in 734/839 (87.5%) patients, with a mean reassessment time of approximately 10 min; however, in many cases reassessment occurred earlier than the expected onset of analgesic action. Overall, only 29.4% of patients with pain and documented reassessment achieved the recommended ≥50% reduction in pain intensity, and at least 70.2% of the cohort had no documented evidence of treatment fully complying with national recommendations. Conclusions: In this real-world prehospital and ED cohort, pediatric trauma pain remains under-treated, and adherence to national guidelines on opioid-based analgesia and pain reassessment is suboptimal. Further efforts are needed to improve documentation, expand the recommended pharmacological options for mild pain, and strengthen education on guideline-concordant pediatric pain management in EMS. Full article

Human adenovirus type 7 (HAdV-7) is a significant pathogen responsible for viral community-acquired pneumonia in children. To date, no specific antiviral agents have been approved for clinical use against HAdV infections. Traditional Chinese medicine (TCM) mixtures have shown promising potential in managing viral pneumonia. This study aimed to evaluate the antiviral activity of Yuanzhixingrenheji (YZ), a hospital-prepared TCM formulation from Beijing Children’s Hospital, against HAdV-7. Initial screening of four hospital formulations (Feiyanheji, Qingjieheji, Yindaizhikeheji, and Yuanzhixingrenheji) using a CCK-8 assay revealed that YZ exhibited the lowest cytotoxicity. In vitro, YZ pretreatment and post-infection treatment exhibited dose-dependent antiviral activity against HAdV-7 in A549 cells, significantly suppressing the DBP mRNA level and protein expression while reducing viral genome copies, HAdV-7-GFP fluorescence, hexon fluorescence, and DBP nuclear localization. In the hDSG2^+/+ C57BL/6 mouse model of HAdV-7 infection, YZ effectively mitigated infection-induced body weight loss and substantially reduced viral loads in lung tissue. Furthermore, a clinical retrospective analysis indicated that YZ treatment significantly decreased post-hospitalization serum C-reactive protein levels of pediatric patients with HAdV infection in various disease severities. Compared with conventional treatment, YZ treatment also significantly reduced peak temperature and shortened the duration of fever in children with HAdV infection, supporting its therapeutic potential. In summary, this study provides the first integrated evidence from in vitro, in vivo, and clinical retrospective investigations, demonstrating that the TCM mixture YZ has significant anti-HAdV-7 activity and clinical efficacy. Characterized by a favorable safety profile and low economic burden, YZ is a promising candidate for the treatment of pediatric adenovirus pneumonia. Full article

Background: Chronic kidney disease (CKD) in children is frequently associated with underlying genetic etiologies, particularly in cases with early onset, congenital anomalies, or multisystem involvement. The integration of molecular diagnostics into routine nephrological practice represents an important step toward personalized medicine in pediatric CKD. Methods: This retrospective observational study included 50 pediatric patients with CKD stages 2–5 and suspected hereditary etiology evaluated at a tertiary pediatric center. All patients underwent genetic testing using next-generation sequencing and/or chromosomal microarray analysis. Clinical characteristics, CKD stage, extrarenal manifestations, and disease progression were analyzed in relation to genetic findings. Associations between clinical variables and genetic diagnosis were assessed using appropriate statistical tests, including multivariable logistic regression. Results: A positive genetic diagnosis was identified in 28 patients (56%), including 21 monogenic disorders detected by next-generation sequencing and 7 pathogenic copy number variants identified by chromosomal microarray analysis. Extrarenal manifestations were present in 48% of patients and were significantly associated with a higher diagnostic yield (75% vs. 42.3%; OR = 4.09; 95% CI: 1.23–13.61; p = 0.007). Psychomotor delay was strongly associated with pathogenic copy number variants (p < 0.001). Patients with confirmed genetic etiologies exhibited significantly higher rates of CKD progression compared with genetically negative individuals (82.1% vs. 22.7%; OR = 15.64; 95% CI: 3.90–62.7; p < 0.001). In multivariable analysis, genetic diagnosis shows association with disease progression after adjustment for age and baseline renal function. Conclusions: Genetic testing provided a molecular diagnosis in more than half of children with CKD and suspected hereditary etiology. Extrarenal manifestations were strongly associated with a higher diagnostic yield, while confirmed genetic etiologies may be associated with CKD progression. These findings support the early integration of genetic diagnostics into the evaluation of pediatric CKD to improve prognostic assessment and enable more personalized management strategies. Full article

Nephrocalcinosis, defined as the deposition of calcium salts within the renal parenchyma, represents a radiologic and pathologic endpoint shared by a broad spectrum of metabolic and monogenic disorders. Advances in genomic medicine have identified more than 30 genes involved in tubular transport, mineral and acid–base homeostasis, oxalate metabolism, mitochondrial function, ciliary signaling, and nephron development, reframing nephrocalcinosis as a heterogeneous manifestation of discrete molecular defects rather than a single disease entity. Despite this diversity, these conditions converge on common physicochemical pathways of tubular supersaturation, crystal nucleation, growth, and intrarenal retention. These processes are amplified by the intrinsic vulnerability of the renal medulla—characterized by hyperosmolality, hypoxia, and slow tubular flow—and by epithelial injury, loss of crystallization inhibitors, and impaired ciliary signaling. Distinct genotype–phenotype signatures, including age at onset, biochemical profiles, and extrarenal manifestations, provide important diagnostic clues and help differentiate major monogenic entities. The increasing availability of targeted gene panels, whole-exome sequencing, and whole-genome sequencing has substantially improved diagnostic yield, particularly in pediatric populations. Molecular diagnosis now directly informs therapeutic decision-making and long-term management, enabling a shift toward precision nephrology. This narrative review integrates genetic, mechanistic, and clinical perspectives to illustrate how molecular diagnosis reshapes the evaluation, prognosis, and treatment of nephrocalcinosis. Full article

Background/Objectives: Febrile illness in returning travelers presents a diagnostic and operational challenge for emergency medicine clinicians as early symptoms of high-consequence tropical infections often overlap with common viral syndromes. This review synthesizes current evidence to guide frontline clinicians in the systematic evaluation, diagnosis, and management of internally acquired febrile illnesses with a focus on pathogen of greatest relevance to United States (US) emergency departments (ED). Methods: We conducted a narrative review of the literature addressing epidemiology, clinical presentation, diagnostic testing, and management strategies for key travel-associated infections. Special consideration was given to rapid diagnostic modalities, pediatric risk factors, and infections most frequently implicated in returning travelers, including chikungunya (CHIK), dengue virus (DENV) disease, Ebola virus (EBV) disease, malaria, Mpox, typhoid fever (TF), yellow fever (YF), and Zika virus (ZIKV) disease. Results: Effective evaluation begins with a detailed travel and exposure history, recognition of epidemiologic and clinical red flags, and targeted use of rapid diagnostic tests. Malaria remains the most common life-threatening cause of post-travel fever and the only pathogen with reliable Food and Drug Administration (FDA)-cleared rapid testing available in the ED. Arboviral infections such as DENV, CHIK, ZIKV, and YFrequire region-specific consideration and phase-appropriate molecular or serologic evaluation. Emerging and high-consequence pathogens, including Mpox and EBV, necessitate strict infection control measures and coordination with public health authorities. Pediatric travelers, particularly those visiting friends and relatives, face disproportionate risk for severe systemic infections and often require broader diagnostic testing. Conclusions: A structured approach integrating travel history, focused examination, rapid diagnostics, and early recognition of high-risk features is essential to improving outcomes for febrile returning travelers. Strengthened vector control, enhanced vaccination uptake, and global surveillance are critical to reducing future disease burden. Full article

Background/Objectives: NF2-related schwannomatosis (NF2-SWN) is a genetic tumor predisposition syndrome of the nervous system caused by pathogenic variants in NF2 encoding the merlin tumor suppressor. Truncating variants in NF2 cause severe phenotypes with higher tumor burden, early mortality, and a lifetime need for multiple surgeries due to lack of medications that control schwannoma growth. Methods: We developed a functional precision medicine (FPM)-inspired workflow to identify drug sensitivities in cells isolated from a pediatric severe NF2-SWN patient’s spinal and peripheral schwannomas. Transcriptomic profiling, high-content drug sensitivity assays, tissue and isolated cell immunostaining, flow cytometry, and capillary-based immunoblotting were used to study the available tissues. Results: Aberrant merlin-dependent pathway expression was conserved between the spinal schwannoma and its cultured primary cells. Drug sensitivity screens in 2- and 3-dimensional formats revealed cytotoxic effects of fimepinostat in primary cells; dasatinib with brigatinib was the most effective cytostatic combination. Ineffective therapies attempted in the patient were also ineffective ex vivo. Conclusions: These data support the idea of using the FPM workflow to improve and individualize the standard of care for severe NF2-SWN patients using surgical samples. Full article