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1.
Mult Scler ; 26(8): 945-954, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-31124748

RESUMO

OBJECTIVE: We aimed to evaluate magnetic resonance imaging (MRI) previously used criteria (Matthews's criteria, MC) for differentiating multiple sclerosis (MS) from neuromyelitis optica spectrum disorders (NMOSD) in Caucasian and non-Caucasian populations (Argentina, Brazil and Venezuela) with positive (P-NMOSD), negative (N-NMOSD), and unknown (U-NMOSD) aquaporin-4 antibody serostatus at disease onset and to assess the added diagnostic value of spinal cord MRI in these populations. METHODS: We reviewed medical records, and MRIs were assessed by two blinded evaluators and were scored using MC. Short-segment transverse myelitis (STM) was added as a new criterion. MC sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were determined. RESULTS: We included 282 patients (MS = 188 and NMOSD = 94). MC applied to the entire cohort showed 97.8% sensitivity, 82.9% specificity, 92.0% PPV, and 95.1% NPV for differentiating MS from NMOSD. A subanalysis applied only to non-Caucasian (MS = 89 and NMOSD = 47) showed 100% sensitivity, 80.8% specificity, 90.8% PPV, and 100% NPV. Similar sensitivity, specificity, PPV, and NPV of MC for MS versus P-NMOSD (n = 55), N-NMOSD (n = 28), and U-NMOSD (n = 21) were observed. CONCLUSION: MC distinguished MS from NMOSD of all serostatus in a Latin American cohort that included non-Caucasian populations. Addition of STM to MC did not raise the accuracy significantly.


Assuntos
Aquaporina 4/imunologia , Autoanticorpos/sangue , Encéfalo/diagnóstico por imagem , Imageamento por Ressonância Magnética/normas , Esclerose Múltipla/diagnóstico por imagem , Neuromielite Óptica/diagnóstico por imagem , Guias de Prática Clínica como Assunto , Medula Espinal/diagnóstico por imagem , Adulto , Argentina , Encéfalo/patologia , Brasil , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/sangue , Esclerose Múltipla/patologia , Neuromielite Óptica/sangue , Neuromielite Óptica/patologia , Valor Preditivo dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade , Método Simples-Cego , Medula Espinal/patologia , Venezuela , Adulto Jovem
2.
Clin Genet ; 96(4): 341-353, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31268554

RESUMO

Limb-girdle muscular dystrophies (LGMD) are a group of genetically heterogeneous disorders characterized by predominantly proximal muscle weakness. We aimed to characterize epidemiological, clinical and molecular data of patients with autosomal recessive LGMD2/LGMD-R in Brazil. A multicenter historical cohort study was performed at 13 centers, in which index cases and their affected relatives' data from consecutive families with genetic or pathological diagnosis of LGMD2/LGMD-R were reviewed from July 2017 to August 2018. Survival curves to major handicap for LGMD2A/LGMD-R1-calpain3-related, LGMD2B/LGMD-R2-dysferlin-related and sarcoglycanopathies were built and progressions according to sex and genotype were estimated. In 370 patients (305 families) with LGMD2/LGMD-R, most frequent subtypes were LGMD2A/LGMD-R1-calpain3-related and LGMD2B/LGMD-R2-dysferlin-related, each representing around 30% of families. Sarcoglycanopathies were the most frequent childhood-onset subtype, representing 21% of families. Five percent of families had LGMD2G/LGMD-R7-telethonin-related, an ultra-rare subtype worldwide. Females with LGMD2B/LGMD-R2-dysferlin-related had less severe progression to handicap than males and LGMD2A/LGMD-R1-calpain3-related patients with truncating variants had earlier disease onset and more severe progression to handicap than patients without truncating variants. We have provided paramount epidemiological data of LGMD2/LGMD-R in Brazil that might help on differential diagnosis, better patient care and guiding future collaborative clinical trials and natural history studies in the field.


Assuntos
Genes Recessivos , Estudos de Associação Genética , Predisposição Genética para Doença , Distrofia Muscular do Cíngulo dos Membros/diagnóstico , Distrofia Muscular do Cíngulo dos Membros/genética , Idade de Início , Alelos , Biomarcadores , Brasil , Progressão da Doença , Feminino , Frequência do Gene , Estudos de Associação Genética/métodos , Genótipo , Geografia Médica , Humanos , Masculino , Debilidade Muscular , Distrofia Muscular do Cíngulo dos Membros/epidemiologia , Fenótipo , Fatores Sexuais
3.
Spinal Cord ; 56(10): 949-954, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29789706

RESUMO

STUDY DESIGN: Multicenter retrospective study. OBJECTIVES: The aim was to determine the frequency and magnetic resonance imaging (MRI) features of short-segment transverse myelitis (STM) in patients with neuromyelitis optica spectrum disorders (NMOSD) during a myelitis attack. SETTING: Latin American diagnostic centres (Neuroimmunology Unit). A multicenter study from Argentina, Brazil and Venezuela was performed. METHODS: Seventy-six patients with NMOSD were included. We analyzed 346 attacks and reviewed spinal cord MRIs performed within 30 days from spinal attack onset. Sagittal and axial characteristics on cervical and thoracic MRI (1.5 tesla) were observed. Demographics, clinical, serological, and disability data were collected. RESULTS: Among the 76 patients with NMOSD, isolated STM was observed in 8% (n = 6), multisegmental lesions (longitudinally extensive transverse myelitis (LETM) + STM) in 28% (n = 21; 13 had at least one STM), LETM in 42% (n = 32), and normal spinal MRI in 22% (n = 17). However, isolated STM was increased by 10% in patients with NMOSD with spinal lesions (6 out of 59) with mean attacks of 2.5 (±0.83) and last follow-up expanded disability status scale (EDSS) of 3.1 (±2.63). Positive aquaporin 4 antibodies (AQP4-ab) were found in 50%. Upper-cervical lesion was most frequently observed (5 out of 6). Myelitis was preceded by ON in all isolated patients with STM. Only one had a positive gadolinium lesion and none of these had asymptomatic spinal cord lesion. CONCLUSION: Isolated STM does not exclude NMOSD diagnosis. Therefore, APQ4-ab testing could be useful during a myelitis attack with STM.


Assuntos
Neuromielite Óptica/diagnóstico por imagem , Medula Espinal/diagnóstico por imagem , Adulto , Vértebras Cervicais , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Vértebras Torácicas
4.
Mult Scler Relat Disord ; 19: 73-78, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29156226

RESUMO

BACKGROUND: Brain magnetic resonance imaging (BMRI) lesions were classically not reported in neuromyelitis optica (NMO). However, BMRI lesions are not uncommon in NMO spectrum disorder (NMOSD) patients. OBJECTIVE: To report BMRI characteristic abnormalities (location and configuration) in NMOSD patients at presentation. METHODS: Medical records and BMRI characteristics of 79 patients with NMOSD (during the first documented attack) in Argentina, Brazil and Venezuela were reviewed retrospectively. RESULTS: BMRI abnormalities were observed in 81.02% of NMOSD patients at presentation. Forty-two patients (53.1%) showed typical-NMOSD abnormalities. We found BMRI abnormalities at presentation in the brainstem/cerebellum (n = 26; 32.9%), optic chiasm (n = 16; 20.2%), area postrema (n = 13; 16.4%), thalamus/hypothalamus (n = 11; 13.9%), corpus callosum (n = 11; 13.9%), periependymal-third ventricle (n = 9; 11.3%), corticospinal tract (n = 7; 8.8%), hemispheric white matter (n = 1; 1.2%) and nonspecific areas (n = 49; 62.03%). Asymptomatic BMRI lesions were more common. The frequency of brain MRI abnormalities did not differ between patients who were positive and negative for aquaporin 4 antibodies at presentation. CONCLUSION: Typical brain MRI abnormalities are frequent in NMOSD at disease onset.


Assuntos
Aquaporina 4/imunologia , Autoanticorpos/sangue , Encéfalo/patologia , Neuromielite Óptica/sangue , Neuromielite Óptica/patologia , Adulto , Argentina , Encéfalo/diagnóstico por imagem , Tronco Encefálico/diagnóstico por imagem , Tronco Encefálico/patologia , Brasil , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Neuromielite Óptica/diagnóstico por imagem , Estudos Retrospectivos , Venezuela , Adulto Jovem
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