RESUMO
The neurofibromatoses, which include neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis, are a group of syndromes characterized by tumor growth in the nervous system. The RASopathies are a group of syndromes caused by germline mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. The RASopathies include NF1, Noonan syndrome, Noonan syndrome with multiple lentigines, Costello syndrome, cardio-facio-cutaneous syndrome, Legius syndrome, capillary malformation arterio-venous malformation syndrome, and SYNGAP1 autism. Due to their common underlying pathogenetic etiology, all these syndromes have significant phenotypic overlap of which one common feature include a predisposition to tumors, which may be benign or malignant. Together as a group, they represent one of the most common multiple congenital anomaly syndromes estimating to affect approximately one in 1000 individuals worldwide. The subcontinent of India represents one of the largest populations in the world, yet remains underserved from an aspect of clinical genetics services. In an effort to bridge this gap, the First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and Advances of New Therapeutics was held in Kochi, Kerala, India. These proceedings chronicle this timely and topical international symposium directed at discussing the best practices and therapies for individuals with neurofibromatoses and RASopathies.
Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Proteínas Quinases Ativadas por Mitógeno/genética , Neurofibromatoses/etiologia , Proteínas ras/genética , Biomarcadores , Gerenciamento Clínico , Estudos de Associação Genética/métodos , Humanos , Proteínas Quinases Ativadas por Mitógeno/metabolismo , Técnicas de Diagnóstico Molecular , Terapia de Alvo Molecular , Neurofibromatoses/diagnóstico , Neurofibromatoses/terapia , Transdução de Sinais , Pesquisa Translacional Biomédica , Proteínas ras/metabolismoRESUMO
STUDY DESIGN: Prospective, blinded reliability study of quantitative magnetic resonance imaging (MRI) measures in patients with cervical myelopathy. OBJECTIVE: To assess the intra- and interobserver reliability of commonly used quantitative MRI measures such as transverse area (TA) of spinal cord, compression ratio (CR), maximum canal compromise (MCC), and maximum spinal cord compression (MSCC). SUMMARY OF BACKGROUND DATA: There is no consensus on an optimal quantitative MRI method(s) in assessing canal stenosis and cord compression. METHODS: Seven surgeons performed measurements on 17 digital MR images, on 4 separate occasions. The degree of stenosis was evaluated by measuring TA and CR on axial T2, MCC, and MSCC on midsagittal T1- and T2-weighted MRI sequences, respectively. Statistical analyses included repeated-measures analysis of variance and intraclass correlation coefficients (ICCs). RESULTS: The mean ± SD for intraobserver ICC was 0.88 ± 0.1 for MCC, 0.76 ± 0.08 for MSCC, 0.92 ± 0.07 for TA, and 0.82 ± 0.13 for CR. In addition, the interobserver ICC was 0.75 ± 0.04 for MCC, 0.79 ± 0.09 for MSCC, 0.80 ± 0.05 for CR, and 0.86 ± 0.03 for TA. Higher degree of canal compromise (MCC) was associated with lower modified version of Japanese Orthopaedic Association Scale score (P = 0.05). Also, a strong association was found between MSCC and lower modified version of Japanese Orthopaedic Association Scale score, greater number of steps, and longer walking time (P < 0.05). CONCLUSION: All 4 measurement techniques demonstrated a good to moderately high degree of intra- and interobserver reliability. Highest reliability was noted in the assessment of T2-weighted sequences and axial MRI. Our results show that the measurements of MCC, MSCC, and CR are sufficiently reliable and correlate well with clinical severity of cervical myelopathy.