MILENA SALES PITOMBEIRA
Projetos de Pesquisa
Unidades Organizacionais
LIM/43 - Laboratório de Medicina Nuclear, Hospital das Clínicas, Faculdade de Medicina
2 resultados
Resultados de Busca
Agora exibindo 1 - 2 de 2
- Evaluation of Non-Invasive Methods for (R)-[11C]PK11195 PET Image Quantification in Multiple Sclerosis(2024) MANTOVANI, Dimitri B. A.; PITOMBEIRA, Milena S.; SCHUCK, Phelipi N.; ARAUJO, Adriel S. de; BUCHPIGUEL, Carlos Alberto; FARIA, Daniele de Paula; SILVA, Ana Maria M. daThis study aims to evaluate non-invasive PET quantification methods for (R)-[C-11]PK11195 uptake measurement in multiple sclerosis (MS) patients and healthy controls (HC) in comparison with arterial input function (AIF) using dynamic (R)-[C-11]PK11195 PET and magnetic resonance images. The total volume of distribution (VT) and distribution volume ratio (DVR) were measured in the gray matter, white matter, caudate nucleus, putamen, pallidum, thalamus, cerebellum, and brainstem using AIF, the image-derived input function (IDIF) from the carotid arteries, and pseudo-reference regions from supervised clustering analysis (SVCA). Uptake differences between MS and HC groups were tested using statistical tests adjusted for age and sex, and correlations between the results from the different quantification methods were also analyzed. Significant DVR differences were observed in the gray matter, white matter, putamen, pallidum, thalamus, and brainstem of MS patients when compared to the HC group. Also, strong correlations were found in DVR values between non-invasive methods and AIF (0.928 for IDIF and 0.975 for SVCA, p < 0.0001). On the other hand, (R)-[C-11]PK11195 uptake could not be differentiated between MS patients and HC using VT values, and a weak correlation (0.356, p < 0.0001) was found between VTAIF and VTIDIF. Our study shows that the best alternative for AIF is using SVCA for reference region modeling, in addition to a cautious and appropriate methodology.
- Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia(2023) NOBREGA, Paulo R.; PAIVA, Anderson R. B. de; SOUZA, Katiane S.; SOUZA, Jorge Luiz B. de; LIMA, Pedro Lucas G. S. B.; SILVA, Delson Jose da; PITOMBEIRA, Milena Sales; BORGES, Viviennee K.; DIAS, Daniel A.; BISPO, Luciana M.; SANTOS, Carolina F.; FREUA, Fernando; SILVA, Paulo Diego S.; ALVES, Isabela S.; PORTELLA, Leonardo B.; CUNHA, Paulina R.; SALOMAO, Rubens Paulo A.; PEDROSO, Jose Luiz; MIYAJIMA, Veridiana P.; MIYAJIMA, Fabio; CALI, Elisa; WADE, Charles; SUDARSANAM, Annapurna; O'DRISCOLL, Mary; HAYTON, Tom; BARSOTTINI, Orlando G. P.; KLEBE, Stephan; KOK, Fernando; LUCATO, Leandro Tavares; HOULDEN, Henry; DEPIENNE, Christel; LYNCH, David S.; BRAGA-NETO, PedroMutations in CLCN2 are a rare cause of autosomal recessive leucoencephalopathy with ataxia and specific imaging abnormalities. Very few cases have been reported to date. Here, we describe the clinical and imaging phenotype of 12 additional CLCN2 patients and expand the known phenotypic spectrum of this disorder. Informed consent was obtained for all patients. Patients underwent either whole-exome sequencing or focused/panel-based sequencing to identify variants. Twelve patients with biallelic CLCN2 variants are described. This includes three novel likely pathogenic missense variants. All patients demonstrated typical MRI changes, including hyperintensity on T2-weighted images in the posterior limbs of the internal capsules, midbrain cerebral peduncles, middle cerebellar peduncles and cerebral white matter. Clinical features included a variable combination of ataxia, headache, spasticity, seizures and other symptoms with a broad range of age of onset. This report is now the largest case series of patients with CLCN2-related leucoencephalopathy and reinforces the finding that, although the imaging appearance is uniform, the phenotypic expression of this disorder is highly heterogeneous. Our findings expand the phenotypic spectrum of CLCN2-related leucoencephalopathy by adding prominent seizures, severe spastic paraplegia and developmental delay. Nobrega et al. describe 12 additional CLCN2 leucoencephalopathy patients expanding the phenotypic spectrum by adding prominent seizures, severe spastic paraplegia and developmental delay. All patients demonstrated typical MRI changes. They found three novel missense variants. This report is now the largest case series of patients with CLCN2-related leucoencephalopathy. Graphical abstract