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1.
Malays J Pathol ; 45(3): 375-390, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38155379

RESUMO

Thyroid malignancy status is usually confirmed through histopathological examination (HPE) following thyroidectomy. In Malaysia, the application of molecular markers in pre-operative diagnosis of thyroid cancer remains unexplored. In this study, BRAF and NRAS gene mutation panel was assessed, and the results were compared with retrospective HPE findings. Malaysian patients with benign goitre (BTG: n=33) and papillary thyroid cancer (PTC: n=25; PTCa: n=20, PTCb: n=5) were recruited at Universiti Malaya Medical Centre from September 2019 to December 2022. PCR-direct DNA sequencing of BRAFV600, NRASG12, NRASG13, and NRASQ61 was conducted on DNA extracted from the patients' thyroid tissue specimens following thyroidectomy and HPE. BRAFV600E and NRASQ61R mutations showed absolute PTC-specificity with PTC-sensitivity of 32% and 28%, respectively. NRASQ61H demonstrated lower PTC-specificity (94%) but higher PTC-sensitivity (72%) compared to the BRAFV600E and NRASQ61R mutations. Although the NRASG12 and NRASG13 variants were absent in this study, a novel NRASV14D mutation was detected in a PTCa patient. Unlike PTCb, coexistence of BRAFV600E and NRASQ61 variants was commonly observed among the PTCa patients. Notably, all PTCb patients had NRASQ61H mutation with one patient carried both the NRASQ61H and BRAFV600E mutations. Association analysis revealed potential link between gender, BRAFV600E mutation and lymph node metastasis. In conclusion, mutation panel comprising BRAFV600E, NRASQ61R, and NRASQ61H did not discriminate the two PTC subtypes but replicated the retrospective HPE findings in differentiating BTG from PTC. The application of this mutation panel in pre-operative diagnosis of thyroid nodules requires further validation in a larger sample size, preferably incorporating fineneedle aspirate biopsies.


Assuntos
Carcinoma Papilar , Bócio , Neoplasias da Glândula Tireoide , Humanos , Câncer Papilífero da Tireoide/genética , Câncer Papilífero da Tireoide/patologia , Proteínas Proto-Oncogênicas B-raf/genética , Estudos Retrospectivos , Carcinoma Papilar/genética , Carcinoma Papilar/patologia , Análise Mutacional de DNA/métodos , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/genética , Neoplasias da Glândula Tireoide/patologia , Mutação , Proteínas de Membrana/genética , GTP Fosfo-Hidrolases/genética
2.
Vision Res ; 138: 78-85, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-28687329

RESUMO

Recognition of faces typically occurs via holistic processing where individual features are combined to provide an overall facial representation. However, when faces are inverted, there is greater reliance on featural processing where faces are recognized based on their individual features. These findings are based on a substantial number of studies using 2-dimensional (2D) faces and it is unknown whether these results can be extended to 3-dimensional (3D) faces, which have more depth information that is absent in the typical 2D stimuli used in face recognition literature. The current study used the face inversion paradigm as a means to investigate how holistic and featural processing are differentially influenced by 2D and 3D faces. Twenty-five participants completed a delayed face-matching task consisting of upright and inverted faces that were presented as both 2D and 3D stereoscopic images. Recognition accuracy was significantly higher for 3D upright faces compared to 2D upright faces, providing support that the enriched visual information in 3D stereoscopic images facilitates holistic processing that is essential for the recognition of upright faces. Typical face inversion effects were also obtained, regardless of whether the faces were presented in 2D or 3D. Moreover, recognition performances for 2D inverted and 3D inverted faces did not differ. Taken together, these results demonstrated that 3D stereoscopic effects influence face recognition during holistic processing but not during featural processing. Our findings therefore provide a novel perspective that furthers our understanding of face recognition mechanisms, shedding light on how the integration of stereoscopic information in 3D faces influences face recognition processes.


Assuntos
Face/fisiologia , Reconhecimento Facial/fisiologia , Reconhecimento Visual de Modelos/fisiologia , Feminino , Humanos , Imageamento Tridimensional , Masculino , Adulto Jovem
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