RESUMO
BACKGROUND: Visual analogue scale foot and ankle (VAS-FA score) is a new score, validated in previous studies, but never compared to AOFAS score. OBJECTIVE: Analysis of the two scores using Indian language questionnaire. METHODS: Fifty patients with Malleolar fractures were assessed for functional outcome, time for calculation of scores, difficulty in correlation and comprehension of the questionnaire, in Malayalam language. The score parameters were compared by SSPSS. RESULTS: There was similarity in pattern of score values in both systems but also a difference between values in each category, with VAS-FA having lower values, reflecting its efficacy. There was significant correlation, similar sensitivity and agreement between the scoring systems. VAS-FA correlated better with patient's outcome and required less time for assessment. CONCLUSION: This study shows that Indian language VAS-FA has a similar pattern of extracting scores as AOFAS and can be an efficient tool in ankle outcome assessment in Indian patients.
Assuntos
Fraturas do Tornozelo/diagnóstico , Inquéritos e Questionários , Escala Visual Analógica , Fraturas do Tornozelo/terapia , Indicadores Básicos de Saúde , Humanos , TraduçãoRESUMO
Subjects attending full-time special education (SE) often have multifactorial background for their cognitive impairment, and brain MRI may show nonspecific changes. As voxel-based morphometry reveals regional volume differences, we applied this method to 119 subjects with cognitive impairments and familial need for full-time SE--graded into three levels from specific disorders of cognitive processes (level 1) to intellectual disability (IQ <70; level 3)--and to 43 age-matched controls attending mainstream education (level 0). Subjects in SE groups had smaller global brain white matter (WM), cerebrospinal fluid, and total brain volume than controls. Compared with controls, subjects with intellectual disabilities in SE level 3 showed greater regional gray matter volumes bilaterally in the ventral and dorsal anterior cingulate cortex and smaller regional gray matter volumes in the left thalamus and cerebellar hemisphere. Further, they had greater WM volume in the left frontoparietal region and smaller WM volumes in the posterior limbs of the internal capsules. Subjects in SE level 1 and 2 groups showed the same tendency, but the results were nonsignificant. In conclusion, compared with controls, subjects with intellectual disabilities showed in voxel-based morphometry analysis several regional brain alterations.
Assuntos
Mapeamento Encefálico/métodos , Encéfalo , Transtornos Cognitivos , Educação Inclusiva , Família , Adolescente , Adulto , Encéfalo/anatomia & histologia , Encéfalo/patologia , Encéfalo/fisiologia , Criança , Pré-Escolar , Transtornos Cognitivos/patologia , Transtornos Cognitivos/fisiopatologia , Humanos , Processamento de Imagem Assistida por Computador/métodos , Inteligência/fisiologia , Imageamento por Ressonância Magnética/métodos , Masculino , Testes Neuropsicológicos , Escalas de Graduação Psiquiátrica , Adulto JovemRESUMO
Reported here is the 30-year follow-up of a patient, diagnosed with juvenile neuronal ceroid lipofuscinosis, who was compound heterozygous for the common 1-kb deletion and the missense mutation p.Glu295Lys in the CLN3 gene. Visual failure was noticed at 6 years of age, but thereafter disease progression was atypical. Polyneuropathy and cerebellar signs were observed after age 20, and epilepsy and slight mental decline after age 35. From then on, there was rapid deterioration, and the patient died at age 39. This case highlights the importance of exact genotyping for disease course prediction and management.
Assuntos
Glicoproteínas de Membrana/genética , Chaperonas Moleculares/genética , Lipofuscinoses Ceroides Neuronais , Adulto , Doenças Cerebelares , Transtornos Cognitivos , Surdez , Progressão da Doença , Epilepsia , Seguimentos , Humanos , Imageamento por Ressonância Magnética , Magnetoencefalografia , Masculino , Mutação de Sentido Incorreto , Lipofuscinoses Ceroides Neuronais/genética , Lipofuscinoses Ceroides Neuronais/patologia , Lipofuscinoses Ceroides Neuronais/fisiopatologia , PolineuropatiasRESUMO
UNLABELLED: Juvenile neuronal ceroid lipofuscinosis (JNCL, CLN3) is an inherited lysosomal disease. We used longitudinal MRI, for the first time, to evaluate the rate of brain volume alterations in JNCL. Six patients (mean ages of 12.4 years and 17.3 years) and 12 healthy controls were studied twice with 1.5 T MRI. White matter (WM), gray matter (GM) and CSF volumes were measured from the sets of T1-weighted 3-dimensional MR images using a fully automated image-processing procedure. The brain volume alterations were calculated as percentage change per year. The GM and whole brain volumes decreased and the CSF volume increased significantly more in the patients than in controls (p-values for the null hypothesis of equal means were 0.001, 0.004, and 0.005, respectively). We found no difference in the WM volume change between the populations. In patients, the GM volume decreased 2.4 % (SD 0.5 %, p 0.0001 for the null hypothesis of zero mean change between observations), the whole brain volume decreased 1.1 % (SD 0.5 %, p = 0.003), and the CSF volume increased 2.7 % (SD 1.8 %, p = 0.01) per year. In normal controls, only the mean white matter volume was significantly altered (0.8 % increase, SD 0.7 %, and p = 0.001). CONCLUSION: We demonstrated by longitudinal MRI that the annual rate of the gray matter loss in adolescent JNCL patients is as high as 2.4 %.
Assuntos
Encéfalo/patologia , Imageamento por Ressonância Magnética , Lipofuscinoses Ceroides Neuronais/patologia , Adolescente , Fatores Etários , Atrofia/patologia , Estudos de Casos e Controles , Criança , Feminino , Humanos , Imageamento Tridimensional , Estudos Longitudinais , Masculino , Adulto JovemRESUMO
Shwachman-Diamond syndrome (SDS) is an autosomal recessive condition that results from mutations in the SBDS gene, at chromosome 7q11. Main features include exocrine pancreatic failure, neutropenia and skeletal dysplasia. This study investigated brain structures by magnetic resonance imaging (MRI) in patients with SDS. MRI of the brain was performed in nine patients (7 males, age range 7-37 years) with SDS and mutations in the SBDS gene and in 18 age- and gender-matched controls. MRI images were assessed visually, and volumetric analyses of the brain matter and structural midsagittal measurements were performed. Eight out of nine SBDS mutation-verified patients reported learning difficulties. Patients with SDS had smaller occipitofrontal head circumferences than the controls (Z-score -1.3 vs. +0.3, P = 0.021), and decreased global brain volume (1.74 L vs. 1.94 L, P = 0.019); both gray matter (P = 0.042) and white matter (P = 0.007) volumes were reduced. Patients with SDS had no macroscopic brain malformations, but they had significantly smaller age- and head size-adjusted areas of posterior fossa (P = 0.006), vermis (P = 0.002), corpus callosum (P = 0.020), and pons (P = 0.002), and significantly larger cerebrum-vermis ratio (P < 0.0001) than the healthy controls. SDS patients had structurally smaller posterior fossa and cerebellar vermis, corpus callosum, and brainstem than the healthy controls. The MRI findings may be related to the neuropsychological features described in SDS.