RESUMO
Introduction: Head and neck cancer (HNC) is a complex disease, and multiple risk factors can lead to its progression. Observational studies indicated that herpes simplex virus (HSV) may be correlated with the risk of HNC. However, the causal effects and direction between them were still unclear. Methods: This study utilized a Mendelian randomization (MR) approach for causality assessment between HSV infection and Head and neck cancer based on the latest public health data and Genome-Wide Association Study (GWAS) data. The causal effects were estimated using IVW, weighted median, and MR-Egger. A reverse MR analysis was subsequently performed. Cochrans Q test, MR-Egger intercept test, leave one out analysis, and the funnel plot were all used in sensitivity analyses. Results: Genetically predicted higher level of HSV-1 IgG was causally related to HNC (OR=1.0019, 95%CI=1.0003-1.0036, p=0.0186, IVW) and oral and oropharyngeal cancer (OR=1.0018, 95%CI=1.0004-1.0033, p=0.0105, IVW). The reverse MR analysis did not demonstrate a reverse causal relationship between HSV and HNC. However, HSV-2 infection was not causally related to HNC data and oropharyngeal cancer data. Sensitivity analysis was performed and revealed no heterogeneity and horizontal pleiotropy. Conclusion: Collectively, a significant association was noted between HSV infection and increased risk of HNC, providing valuable insights into the etiology of this malignancy. Further in-depth study is needed to validate these findings and elucidate the underpinning mechanisms.
Assuntos
Estudo de Associação Genômica Ampla , Neoplasias de Cabeça e Pescoço , Herpes Simples , Análise da Randomização Mendeliana , Humanos , Neoplasias de Cabeça e Pescoço/virologia , Neoplasias de Cabeça e Pescoço/genética , Neoplasias de Cabeça e Pescoço/etiologia , Herpes Simples/genética , Polimorfismo de Nucleotídeo Único , Predisposição Genética para Doença , Herpesvirus Humano 1/genética , Herpesvirus Humano 1/fisiologia , Fatores de Risco , Anticorpos Antivirais/sangue , Anticorpos Antivirais/imunologiaRESUMO
In Neurofibromatosis type 1 (NF1), peripheral nerve sheaths tumors are common, with cutaneous neurofibromas resulting in significant aesthetic, painful and functional problems requiring surgical removal. To date, determination of adequate surgical resection margins-complete tumor removal while attempting to preserve viable tissue-remains largely subjective. Thus, residual tumor extension beyond surgical margins or recurrence of the disease may frequently be observed. Here, we introduce Shifted-Excitation Raman Spectroscopy in combination with deep neural networks for the future perspective of objective, real-time diagnosis, and guided surgical ablation. The obtained results are validated through established histological methods. In this study, we evaluated the discrimination between cutaneous neurofibroma (n = 9) and adjacent physiological tissues (n = 25) in 34 surgical pathological specimens ex vivo at a total of 82 distinct measurement loci. Based on a convolutional neural network (U-Net), the mean raw Raman spectra (n = 8,200) were processed and refined, and afterwards the spectral peaks were assigned to their respective molecular origin. Principal component and linear discriminant analysis was used to discriminate cutaneous neurofibromas from physiological tissues with a sensitivity of 100%, specificity of 97.3%, and overall classification accuracy of 97.6%. The results enable the presented optical, non-invasive technique in combination with artificial intelligence as a promising candidate to ameliorate both, diagnosis and treatment of patients affected by cutaneous neurofibroma and NF1.
Assuntos
Neurofibroma , Neurofibromatose 1 , Neuroma , Neoplasias Cutâneas , Humanos , Análise Espectral Raman/métodos , Inteligência Artificial , Neurofibroma/diagnóstico , Neurofibroma/genética , Neurofibroma/patologia , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Neurofibromatose 1/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Redes Neurais de ComputaçãoRESUMO
Noonan syndrome (NS) is a phenotypically variable inherited multi-system disorder. Maxillofacial findings can be diagnostic, especially in the evaluation of discrete facial dysmorphia. Diagnostic landmark findings of therapeutic relevance for the jaws such as central giant cell granuloma (CGCG) are rare in NS. However, recent molecular genetic studies indicate that these rare, benign lesions are neoplasms and more common in specific syndromes grouped under the umbrella term RASopathies. A specialist surgical diagnosis can be helpful in identifying the underlying disease. This report outlines diagnosis and treatment of a case of CGCG for which jaw diagnosis became the key to identifying a syndromic disease.
Assuntos
Granuloma de Células Gigantes , Síndrome de Noonan , Humanos , Síndrome de Noonan/genética , Síndrome de Noonan/diagnóstico , Granuloma de Células Gigantes/diagnóstico , Granuloma de Células Gigantes/patologia , Diagnóstico Diferencial , Masculino , Feminino , Doenças Mandibulares/diagnóstico , Doenças Mandibulares/diagnóstico por imagem , Doenças Maxilomandibulares/diagnósticoRESUMO
PURPOSE: Reconstruction with vascularized bone grafts after ablative surgery and subsequent dental rehabilitation with implants is often challenging; however, it helps improve the patient's quality of life. This retrospective case-control study aimed to determine the implant survival/success rates in different vascularized bone grafts and potential risk factors. METHODS: Only patients who received implants in free vascularized bone grafts between 2012 and 2020 were included. The free flap donor sites were the fibula, iliac crest, and scapula. The prosthetic restoration had to be completed, and the observation period had to be over one year after implantation. Implant success was defined according to the Health Scale for Dental Implants criteria. RESULTS: Sixty-two patients with 227 implants were included. The implant survival rate was 86.3% after an average of 48.7 months. The causes of implant loss were peri-implantitis (n = 24), insufficient osseointegration (n = 1), removal due to tumor recurrence (n = 1), and osteoradionecrosis (n = 5). Of all implants, 52.4% were classified as successful, 19.8% as compromised, and 27.8% as failed. Removal of osteosynthesis material prior to or concurrent with implant placement resulted in significantly better implant success than material not removed (p = 0.035). Localization of the graft in the mandibular region was associated with a significantly better implant survival (p = 0.034) and success (p = 0.002), also a higher Karnofsky Performance Status Scale score with better implant survival (p = 0.014). CONCLUSION: Implants placed in vascularized grafts showed acceptable survival rates despite the potential risk factors often present in these patient groups. However, peri-implantitis remains a challenge.