White matter impairment in Rett syndrome: diffusion tensor imaging study with clinical correlations.

BACKGROUND AND PURPOSE: RTT, caused by mutations in the methyl CPG binding protein 2 (MeCP2) gene, is a disorder of neuronal maturation and connections. Our aim was to prospectively examine FA by DTI and correlate this with certain clinical features in patients with RTT. MATERIALS AND METHODS: Thirty-two patients with RTT underwent neurologic assessments and DTI. Thirty-seven age-matched healthy female control subjects were studied for comparison. With use of a 1.5T MR imaging unit, DTI data were acquired, and FA was evaluated to investigate multiple regional tract-specific abnormalities in patients with RTT. RESULTS: In RTT, significant reductions in FA were noted in the genu and splenium of the corpus callosum and external capsule, with regions of significant reductions in the cingulate, internal capsule, posterior thalamic radiation, and frontal white matter. In contrast, FA of visual pathways was similar to control subjects. FA in the superior longitudinal fasciculus, which is associated with speech, was equal to control subjects in patients with preserved speech (phrases and sentences) (P = .542), whereas FA was reduced in those patients who were nonverbal or speaking only single words (P < .001). No correlations between FA values for tracts and clinical features such as seizures, gross or fine motor skills, and head circumference were identified. CONCLUSIONS: DTI, a noninvasive technique to assess white matter tract pathologic features, may add specificity to the assessment of RTT clinical severity that is presently based on the classification of MeCP2 gene mutation and X-inactivation.

Differentiation between the two types of amiodarone-associated thyrotoxicosis using duplex and amplitude Doppler sonography.

PURPOSE: To evaluate the usefulness of Doppler parameters in the differentiation between the two types of amiodarone-associated thyrotoxicosis (AAT). MATERIAL AND METHODS: One hundred thirty-seven individuals were selected at our institution. They were divided into four groups: 84 normal subjects (N), 30 euthyroids taking amiodarone (A), 14 AAT type 1 patients (AAT1), and nine AAT type 2 patients (AAT2). Each AAT type was classified according to (131)I uptake and clinical outcome. Blindly, the resistance and pulsatility indexes (RI, PI), systolic peak velocity, and color pixel density (CPD) were calculated. RESULTS: AAT1 had greater CPD than AAT2 (P = 0.02). The latter group had similar vascularization to the N and A groups (P = 0.45). The area under the receiver operating characteristic (ROC) curve showed that systolic peak velocity in the inferior thyroid arteries and CPD were the best parameters in the differentiation between AAT type 1 and AAT type 2 (Az = 0.83 and 0.84, respectively). Impedance indexes were useless. CONCLUSION: Our results demonstrate that objective tests such as systolic peak velocities in the thyroid arteries and CPD are reliable parameters for differentiating between the two types of AAT.

Reference values for Doppler ultrasound parameters of the thyroid in a healthy iodine-non-deficient population.

The aim of this study was to describe normal Doppler parameter values in the thyroid arteries in an iodine-replete region. 165 individuals were randomly selected in a community located in the south-east of Brazil. We obtained a clinical history on each subject and determined serum thyrotropin, antiperoxidase antibodies, thyrotropin receptor antibody (TRAb) and thyroid volumes through ultrasound. Subjects with thyroid disease and those under 20 years of age were excluded. 84 representative subjects (30 men and 54 women) remained. The systolic peak velocity (SPV), resistive index (RI) and pulsatility index (PI) in the superior and inferior thyroid arteries were measured using a 5-12 MHz linear probe. Except for the RI, the distribution of all Doppler parameters was non-gaussian. The median and mean references for the SPV, RI and PI were 24.80 cm s(-1) and 25.85 cm s(-1), 0.60 and 0.62, and 0.98 and 1.04, respectively, for superior thyroid arteries; these reference values for the inferior thyroid artery were 20.92 cm s(-1) and 21.50 cm s(-1), 0.57 and 0.57, and 0.84 and 0.88, respectively (p<0.001). Women had greater SPV values (p<0.01). We have determined reference thyroid Doppler parameter values in our iodine-non-deficient population and prepared tables by sex and age.

Serum IgA antibodies from patients with coeliac disease react strongly with human brain blood-vessel structures.

BACKGROUND: Our objective was to determine the possible presence of IgA antibodies directed against human central nervous system (CNS) structures in sera from coeliac disease (CD) patients. METHODS: Serum samples were collected from 4 patients with active CD on a gluten-containing diet, 11 biopsy-proven CD patients on a gluten-free diet (GFD), and 52 non-coeliac gastrointestinal controls. In all patients IgA antigliadin antibody (AGA) titres were determined with enzyme-linked immunoassay (ELISA), and IgA antiendomysium antibodies (EMA) with indirect immunofluorescence on human umbilical cord. Cryostat sections of human brain occipital cortex were incubated with the patients' sera and subsequently labelled with anti-human IgA fluorescein conjugate. RESULTS: All sera from patients with active CD on a gluten-containing diet yielded positive results in both the IgG-AGA and EMA test and in indirect immunofluorescence on brain tissue, disclosing a strong fluorescence over blood-vessels structures. All sera from CD patients on a GFD and from non-coeliac gastrointestinal controls gave a negative result on both the EMA test and the immunofluorescence reaction on human brain. CONCLUSIONS: Sera from patients with active CD contain IgA antibodies that react with human brain vessel structures, giving intense fluorescence. These antibodies are not present in sera from coeliac patients on a GFD or non-coeliac controls. This finding might be involved in the abnormal nervous system manifestations frequently described in association with coeliac disease.

Achados ultra-sonográficos da hemorragia intracraniana em recém-nascidos prematuros / Ultrasonic findings of intracranial hemorrhage in preterm neonates

Intracranial hemorrhage ICH is one of the most common neurological events in pre-term newborn ICH is associated with low birth weight (< 1500 g) and gestational age (GA) at delivery (< 32 weeks). The most common site affected is the germinal matrix. Papile et al. classifies it at four grades. We analyzed, prospectively, 50 newborns (27 boys) with ultrasound diagnostic of ICH; all of them were pre-term (GA < 37 weeks). They were classified according to sex, gestational age, birth weight and degree of ICH. The children were divided into two groups: A--GA < or = 33 weeks and B--34-37 weeks. In group A there were 34 children (25 boys) with mean GA of 31 weeks and birth weights average of 1308 g. In group B there were 16 children (2 boys), mean GA 34 weeks and birth weight average of 1951 g. The grades of ICH were: Group A--I-14, II-14, III-4 and IV-2; Group B--I-12, II-3 and III-1. The complications were more common in group A with 12 than group B with 4 children. The lesions happen in greatest number and most severity in children with low birth weight and younger (low gestational age). Ultrasound has shown to be effective for diagnostic and follow up of those children.

A hemorragia intracraniana (HIC) é a manifestação mais comum no sistema nervoso central de recém-nascidos (RN) prematuros, especialmente os de peso menor que 1500 g, ou com idade gestacional (IG) menor que 32 semanas. O local mais acometido é a matriz germinal e é classificado em graus por Papile et al. Foram analisados prospectivamente 50 RN pré-termo (IG <37 semanas) com diagnóstico de HIC ao exame ultra-sonográfico (US) transfontanelar. Eles foram classificados quanto à idade, sexo, idade gestacional, peso ao nascer, gravidade e evolução ultra-sonográfica da lesão. As crianças foram divididas em dois grupos (A: IG < 33 semanas e B: 34> IG<37 semanas). No grupo A tivemos 34 RN (25 meninos) com IG média de 31 semanas e peso médio de 1308 g. No grupo B tivemos 16 RN (2 meninos) com IG média de 34 semanas e peso médio de 1951 g. A distribuição da HIC nos grupos foi: Grupo A-Grau I- 14, II-14, III-4 e IV-2 e Grupo B-I-12, II- 3, III-1. Não houve diferença estatística do grau da HIC entre meninos e meninas ou entre os grupos de RN. As complicações foram mais comuns no grupo A, com um total de 12, contra 4 no Grupo B. O US se mostrou método eficiente no diagnóstico e acompanhamento dos RN com HIC.