12 documents found, page 1 of 2

Distribution and Clinical Significance of HPV16 Variants in Head and Neck Squam...

Introduction: Genomic variants of the human papillomavirus type 16 (HPV16) are thought to play differential roles in the susceptibility to head and neck squamous cell carcinomas (HNSCC) and its biological behaviour. This study aimed to establish the prevalence of HPV16 variants in an HNSCC cohort and associate them with clinical pathological characteristics and patient survival. Methods: We retrieved samples an...

Characterization of the Human Papillomavirus 16 Oncogenes in K14HPV16 Mice: Sub...

The study of ()-induced carcinogenesis uses multiple in vivo mouse models, one of which relies on the cytokeratin 14 gene promoter to drive the expression of all HPV early oncogenes. This study aimed to determine the HPV16 variant and sublineage present in the K14HPV16 mouse model. This information can be considered of great importance to further enhance this K14HPV16 model as an essential research tool and opt...

Five-Year Risk of Basal Cell Carcinoma Recurrence After a Conventional Surgical...

Introduction: Basal cell carcinomas are mostly treated surgically, mostly by surgery with postoperative histopathologic margin evaluation (“conventional surgery”), but large long-term data regarding recurrence by completeness of excisions is limited. Methods: Retrospective cohort study of basal cell carcinomas treated by conventional surgery at different medical specialties in a large tertiary centre, between 2...

Towards a rapid sequencing-based molecular surveillance and mosaicism investiga...

Advances in molecular epidemiology of Toxoplasma gondii are hampered by technical and cost-associated hurdles underlying the acquisition of genomic data from parasites. In order to implement an enhanced genotyping approach for molecular surveillance of T. gondii, we applied a multi-locus amplicon-based sequencing strategy to samples associated with human infection. This approach, targeting genome-dispersed poly...

Next generation sequencing: a golden tool in mitochondrial diseases

The development of Next Generation Sequencing (NGS) has revolutionized the diagnostic approach of mitochondrial disorders, particularly in children. The purpose of our project is to develop a NGS strategy to identify the genetic defect in 250 patients, to confirm the clinical diagnosis of the disease.

Next Generation Sequencing Improves Mitochondrial Diseases Diagnosis

Objectives: The overall aim of our research project was to develop a Next Generation Sequencing strategy to identify nuclear disease causing-mutations in patients suspicious of mitochondrial disorders but without molecular etiology.

Defeitos Genéticos das Doenças Mitocondriais: Abordagem por Sequenciação de Nov...

Objetivos:O objetivo deste projeto de investigação é desenvolver uma estratégia de sequenciação de nova geração para a identificação das alterações genéticas em doentes suspeitos de doenças mitocondriais sem caracterização molecular.

Diagnóstico das Doenças Mitocondriais por Sequenciação de Nova Geração

Introdução e objetivos: As doenças mitocondriais constituem um importante grupo de doenças metabólicas de expressão clínica heterogénea, para as quais não existe uma terapia eficaz. Estas patologias podem ser causadas por defeitos genéticos quer no genoma mitocondrial, quer no nuclear. A sequenciação de nova geração (NGS) revolucionou o diagnóstico molecular destas doenças, uma vez que tem capacidade de gerar u...

VARICOSE VEINS SURGERY OF LOWER LIMBS CAN WE PRESERVE GREAT SAPHENOUS VEIN?

Introdução: A avaliação por eco-Doppler mostrou a grande veia safena como uma veia interfascial e não superficial. O Eco-Doppler mostrou também veias varicosas com junção safeno femoral competente, bem como veias varicosas que envolvem somente veias colaterais ou veias colaterais mais segmentos da grande veia safena. Consequentemente foram definidos dois padrões principais de refluxo venoso: o refluxo axial com...

Annual Scientific Report of the Center for Toxicogenomics and Human Health