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BACKGROUND: Helminth infections with larvae that migrate through the tissues have been considered risk factors for CNS infections. OBJECTIVES: The present work was designed to investigate the prevalence of anti- TOXOCARA antibodies in the serum and/or in the cerebrospinal fluid (CSF) of children with infectious meningitis or meningoencephalitis and of a control group, without meningitis, admitted at the Children's Hospital NS Glória, Vitória, ES, Brazil. PATIENTS AND METHODS: After adsorption with ASCARIS LUMBRICOIDES antigen, serum and/or cerebrospinal fluid of 381 inpatients (201 with meningitis and 180 without meningitis) were submitted to an ELISA IgG, for anti- TOXOCARA antibodies using secretion/excretion antigens of third stage larvae of T. CANIS. RESULTS: No significant differences between the meningitis and the control groups were observed in the frequencies of positive tests for anti- TOXOCARA antibodies in the serum or CSF (respectively for the meningitis and control group: 33/103 or 32 % and 52/152 or 34.2 % for the serum, p = 0.821; 48/184 or 26.1 % and 23/121 or 19.0 % for the CSF; p = 0.196. CONCLUSION: The results demonstrated that TOXOCARA infection, evaluated by detection of anti- TOXOCARA antibodies in serum or CSF, is not associated with viral or bacterial meningitis or meningoencephalitis in children in our country.

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The aim of this study was to analyze the diagnosis found in a series of patients in which the diagnosis of Herpes simplex encephalitis (HSE) was ruled out by a negative polymerase chain reaction (PCR) result for HSV DNA in cerebrospinal fluid (CSF) samples. Forty three out of 61 HSE suspected patients had negative PCR. An alternative diagnosis was established in 41.9% of these patients. These patients were diagnosed as having viral (2 cases-11.1%) and non viral (5 cases-27.2%) CNS infections, vascular (4 cases-22.2%) and demyelinating diseases (3 cases-16.7%), metabolic disturbances (3 cases-16.7%), and CNS tumor (1 case-5.6%). The non specific clinical presentation of this disease and the availability of an efficient treatment for HSE explain why several patients with other diseases were initially treated with acyclovir. The early use of PCR in CSF was considered essential for the evaluation of the acute encephalitis cases in this study.

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Hyperthermia, skeletal muscle rigidity, rhabdomyolysis, acidosis and multiple system insufficiency characterize malignant hyperthermia. Anaesthetic malignant hyperthermia follows halogenated volatile agents and/or depolarizing muscle relaxants utilization. Diagnosis is based on in vitro muscle contracture in response to halothane and/or caffeine exposure. Neuroleptic malignant syndrome affects patients taking neuroleptic drugs; clinical findings include hyperthermia, extrapyramidal rigidity, acidosis, neurovegetative instability and neurological signs. We report three neuroleptic malignant syndrome patients with positive muscle contracture tests which shows that muscle from neuroleptic malignant syndrome patients may in some instances show alterations similar to those of anaesthetic malignant hyperthermia.

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Malignant hyperthermia (MH) and central core disease (CCD) are two conditions associated with susceptibility to volatile anesthetics and depolarizing muscle relaxants. The gene RYR1, encoding the Ca2+ release channel of skeletal muscle sarcoplasmic reticulum, is responsible for about 50% of the cases of MH and some cases of CCD. However, genetic heterogeneity occurs in MH and a mutation in a second gene (CACLN1A3), encoding the alpha1-subunit of the dihydropyridine (DHP) channel, has recently been found in a large MH French family. The presence of this mutation in patients with CCD has not yet been reported. In this study, we analyzed the A3333G mutation in 5 unrelated patients affected by CCD and 31 MH-susceptible relatives (from 19 MH families) and did not find this mutation in any of them. Nevertheless, the report of data on newly described mutations in different populations is important to estimate the contributions of each gene mutation to the phenotype of MH and CCD.

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We report on two siblings that have been followed for 14 years, with merosin-positive congenital muscular dystrophy (CMD), cataract, retinitis pigmentosa, dysversion of the optic disc, but no cerebral anomalies, except for microcephaly and slight mental retardation (MR). The younger child had three generalized seizures easily controlled by anticonvulsant therapy. Both children presented hypotonia from birth, delayed psychomotor development, generalized muscular weakness, and atrophy and joint contractures of knees and ankles. The course of the disease, apparently static during the first 10 years of life, became progressive during the second decade with loss of deambulation by the age of 13. Creatine kinase was increased in both children. Bilateral cataract was diagnosed at 6-months of age. In spite of the occurrence of microcephaly, MR was slight and the siblings acquired reading and writing skills after the aged 10. Head magnetic resonance imaging showed normal results in both siblings. The classification of these cases within the broad spectrum of CMD is difficult since most of the known muscle-eye-brain syndromes generally show severe MR and brain anomalies. We consider these cases as corresponding to the rarer syndromes of merosin-positive CMD with associated features such as cataract and MR that were particularly emphasized during the 50th ENMC International Workshop on CMD [Dubowitz V. Workshop report: 50th ENMC International workshop on congenital muscular dystrophy. Neuromusc Disord 1997;7:539-547]. Further genetic, pathological, neuroradiological, and immunocytochemical studies will be necessary for better elucidation of the classification and pathogenesis of CMD.

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Five patients with a tumefactive lesion were clinically followed from 1992 to 1993. Four patients were female; age ranged from 32 to 57 years, the duration of symptoms varied from 3 days to 3 years. Neurological examination disclosed dementia in two patients, aphasia in three, hemiparesis in four, hemihypoaesthesia in three, optical neuritis in two, tetraparesis with sensitive level and neurogenic bladder in one. MRI disclosed lesions with a hypersignal on images assessed at T2 and hyposignal at T1, and gadolinium heterogeneous enhancement; these lesions were located in the: a) temporooccipital region bilaterally and brain stem, b) frontoparietal white matter, c) basal ganglia, bilateral white matter and brain stem, d) left parietal region, e) cervical spinal cord, with enlargement of this region. Cerebral biopsy was performed in three patients; acute and subacute demyelinating disease was diagnosed by histological examination. Two patients had an evolutive diagnosis; exclusion of other pathologies and clinical and radiological improvement after corticotherapy, pointed to an inflammatory disease.

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The peripheral nervous system is frequently involved in systemic vasculitis and it may be helpful in the disease diagnosis. We report on eight patients: seven women and one man; five white, two black and one yellow; age mean 55.9 years; four had polyarteritis nodosa, one had systemic lupus erythematosus, one had isolated peripheral nerve vasculitis and one had livedoid vasculitis. All of them received endovenous therapy with "pulse" of methylprednisolone (1 g/day/3 days) and cyclophosphamide (1 g/1 day). Five patients improved, two remained unchanged and one died. The neurological improvement occurred after the third or fourth pulse and in the patients who have had a shorter time of disease.

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The early diagnosis of herpes simplex encephalitis (HSE) is essential because early introduction of antiviral therapy can significantly reduce the mortality of this disease. Herpes simplex virus (HSV) DNA detection in cerebrospinal fluid (CSF) samples is a rapid, noninvasive, specific, and highly sensitive method for HSE diagnosis. Neurodiagnostic methods have also been studied for noninvasive diagnosis of HSE. Magnetic resonance imaging (MRI) seems to be the most sensitive of them but it has not been compared to PCR in terms of efficacy for HSE diagnosis. In this study, 17 patients with focal encephalitis were prospectively evaluated by PCR analysis of CSF samples and MRI examination. MRI lesions involving the inferomedial region of one or both temporal lobes were observed in all PCR-positive patients but one. No PCR-negative patient presented with the same pattern of MRI lesions. MRI was also important for the establishment of an alternative diagnosis in three of eight PCR-negative patients. Both methods should be routinely applied in the evaluation of presumed HSE cases.

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Detection of DNA from herpes simplex virus in cerebrospinal fluid (CSF) samples by polymerase chain reaction (PCR) analysis has been shown to be more sensitive and specific for the diagnosis of herpes simplex encephalitis than isolation of herpes simplex virus from biopsy specimens of brain tissue. Because of the invasiveness of brain biopsy, it has been suggested that PCR analysis of CSF may reveal a wider spectrum of the disease than has been previously recognized by brain biopsy studies. In this study, PCR assay of CSF samples obtained from 29, 12, and 8 patients with focal, mild, and diffuse encephalitis, respectively, was performed. PCR assay was positive for 15 (51.7%) of 29 patients with focal encephalitis and three (25%) of 12 patients with mild encephalitis. The correlation between temporal abnormalities shown by electroencephalography, computed tomography of the brain, or cranial magnetic resonance imaging and a positive PCR assay was high. PCR analysis has revealed that atypical and less severe forms of encephalitis are caused by herpes simplex virus.

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Four case of herpes encephalitis (HSVE) are described. The diagnosis was established by polymerase chain reaction (PCR) assay of cerebrospinal fluid (CSF). These reports illustrate different situations in the clinical management of this disease. PCR was considered useful in confirming the HSVE diagnosis in 3 atypical cases, and in the differentiation between virologic failure and postinfectious encephalitis in a patient with recurrence of symptoms. A case with typical HSVE clinical findings is also reported where PCR was negative and a temporal lobe lymphoma was diagnosed at autopsy. This last case is representative of the utility of PCR in the management of other diseases mimicking HSVE.

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We searched for mutations of the p53 gene in 25 phaeochromocytomas using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis of the entire conserved region of the gene, encompassing exons 4-8; expression of the p53 protein was assessed by immunohistochemistry. No mutations were found, while a polymorphism in codon 72 was observed. Immunohistochemistry revealed nuclear p53 overexpression in one tumour sample. We conclude that mutations of the 'hotspot' region of the p53 gene do not seem to play a role in the pathogenesis of phaeochromocytoma.

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Some Becker muscular dystrophy carriers, related to patients with specific DNA deletions, demonstrate both normal and abnormally sized dystrophin bands through qualitative Western blot analysis. The purpose of the present investigation was to assess the sarcolemmal distribution of the altered dystrophin in such carriers. Fibres expressing the normal or deleted dystrophin were identified using specific antibodies which reacted with epitopes from within the deleted region. No negative fibres or patchy immunostaining could be seen when sections from four carriers were labelled with either antibodies (C-terminal and corresponding to the deleted region), although a significant amount of abnormal dystrophin was present in their muscle (as seen on blots). Thus, we were able to confirm that in a proportion of the myonuclei, the defective allele was present on the active X chromosome. Our results suggest that the two types of nuclei were randomly distributed, resulting in normal and abnormal dystrophin molecules which were so intimately mixed that dystrophin-incompetent fibres could not be distinguished in the skeletal muscle from the Xp21 carriers.

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The authors report the case of a female 5-months-old child who presented from the age of two months delayed neuromotor development, marked hypotonia, general muscle weakness and bilateral palpebral ptosis. The muscle biopsy revealed many fibers with central nuclei and the diagnosis was centronuclear (myotubular) myopathy. The difficult histological characterization of this congenital myopathy and the great variability of clinical findings with light, moderate or severe involvement are analysed and discussed.

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In order to investigate if the same apparent decrease in dystrophin negative fibers with aging observed in mouse mdx female heterozygotes also occurs in carriers of the DMD and BMD gene, we have studied the muscle of 29 DMD carriers (19 adults and 10 young daughters of obligate carriers, including 3 manifesting carriers) and 5 adult asymptomatic heterozygotes for Becker dystrophy (BMD). All young DMD possible carriers and 11 of 24 adult DMB/BMD heterozygotes had increased serum enzymes activities. A population of dystrophin negative fibers, more evident with the use of the C-terminal antibody, was seen in the three manifesting and in a 9-yr-old possible DMD carrier. In the remaining females, a positive immunohistochemical pattern of dystrophin, which did not differ from normal controls, was observed. Our results suggest that: (1) the increased population of dystrophin negative fibers reported in young mdx female heterozygotes was not seen in young DMD carriers, aged 6-17 yr; and (2) abnormalities in dystrophin immunostaining are not easily observed and are more frequent in manifesting carriers, when the muscle is grossly altered.

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Two brothers presented to us with a progressive myoclonic syndrome with slight cerebellar symptoms. Neurological examination disclosed moderate cerebellar signs and pale optic discs; asymmetric, asynchronous and arrhythmic myoclonus, an arrthesthesic deficit and no muscular weakness. EEG background activity was moderately slow with no irritative discharges. CT was normal in both cases. Intermittent photic stimulation increased the frequency of the myoclonic jerks, which became bilateral and synchronous, progressing to a generalized tonic-clonic seizure. EPs and MRI in one case were normal. Anticonvulsant drugs were ineffective. The diagnosis of mitochondrial encephalomyopathy was based on the finding, in muscle specimens, of thickened basement membranes with myofibrillary degeneration and increased number of mitochondria peripherally distributed and with a dense granular matrix and some vacuoles. The clinical and EEG data suggest a subcortical origin for this type of myoclonic syndrome.

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The case of an 11-year-old boy with external ophthalmoparesia, tetraparesia and bilateral eyelid ptosis is reported. He was 7-years-old when first symptoms appeared. Anticholinesterasic drugs were used. He was submitted to muscle biopsy. The results of histochemistry analysis showed storage of granulous material at the subsarcolemmal region of muscle fibers by SDH. Increase in the number of mitochondria with electron dense bodies was found at electron microscopy. Anticholinesterasic drugs administration was interrupted and consequently he got worse, and bouts of dyspnea occurred. Due to this worsening anticholinesterasic agents were reintroduced together with prednisone, and he improved. Due to clinical and histological expressions we think it is possible that morphological mitochondrial alterations may occur also in myasthenia gravis.

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Somatotrophs from ten pituitary adenomas were evaluated morphometrically by light and electron microscopy using the following parameters: a) nuclear, cytoplasmic and cell volumes; b) volume density, total volume, surface density, total surface and surface/volume ratio of secretory granules, mitochondria, rough endoplasmic reticulum and Golgi apparatus, and c) the number of secretory granules and mitochondria per micron3 of cytoplasm and per cell. The results were compared (p less than 0.05 and p less than 0.10) with those obtained from somatotrophs identified in five normal pituitaries. The data obtained indicate that: a) in the adenomas, the number of secretory granules per cell cannot be accurately evaluated from their apparent number in sectioned cell profiles; b) there are two basic sub-types of adenomatous somatotrophs defined according to the mean secretory granule diameter; cells in which granule diameter is inferior to 180 nm exhibit distinct morphological features such as nuclear pleomorphism, the presence of gross bundles of intermediate sized filaments or fibrous bodies in the cytoplasm and a variable number of secretory granules. Adenomas constituted mainly by these cells were found in younger patients, suggesting the more aggressive nature of these tumours, thus warranting close clinical follow-up of such patients; and c) in both types of adenomatous cells, the organelles directly involved in the secretory process, i.e., the rough endoplasmic reticulum and Golgi apparatus, are larger than in the control cells; however, the ratio between the surfaces of these two compartments does not differ among the three groups studied.

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The authors report 11 cases of congenital disproportion of fibers, confirmed through clinical and complementary examinations. In these 11 cases early fibrotendinous retractions were frequent and CK proved to be high. At muscle biopsy histochemistry revealed a selective atrophy of type I fibers. This is a rarely frequent congenital dystrophy, of slow progression and benign evolution.

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The neuropathologic study of 22 Brazilian cases of acquired immuno-deficiency syndrome (AIDS) was performed. Thirteen cases (59%) showed neuropathologic lesions. These included infection by Toxoplasma (n = 4), Cryptococcus neoformans (n = 3), viral encephalitis (n = 4), primary lymphomas (n = 2), isolated cerebral infarct (n = 1), and reactive gliosis (n = 1). In 2 cases, primary lymphoma and viral encephalitis were associated. Axonal spheroids in the gracilis and cuneatus nuclei were present in a case of toxoplasmosis. Mammillary bodies lesions consistent with Wernicke's encephalopathy were found in a case of viral encephalitis. In addition, circulatory changes (focal cortical infarcts) were associated lesions in 3 cases. These findings were compared with the main series reported in American and European literature.

PIP: Involvement of the central nervous system is not uncommon in patients with acquired immunodeficiency syndrome (AIDS). The neuropathologic aspects of 22 consecutive autopsies of Brazilian AIDS victims were investigated to gain more information on this manifestation. 13 (59%) of these cases exhibited neuropathologic changes, including infection by Toxoplasma (4 cases), Cryptococcus neoformans (3 cases), viral encephalitis (4 cases), primary lymphomas (2 cases), isolated cerebral infarct (1 case), and reactive gliosis (1 case). In 2 cases, primary lymphoma and viral encephalitis were associated. 3 of the 4 cases of toxoplasmosis had macroscopical abscesses in the region of the internal capsule, basal ganglia, or thalamus. Axonal spheroids in the gracilis and cuneatus nuclei were present. All 3 cryptococcosis cases demonstrated a meningeal inflammatory process; in addition, multiple microcysts were found in the cortex of the cerebral hemispheres and in the basal ganglia in 2 of these cases. The 4 encephalitis cases showed multiple microglial nodules and occasional foci of perivascular lymphocytic cuffings, with dissemination of lesions throughout the grey structures of the central nervous system. All 22 patients autopsied in this series were male; 19 were homosexual. Previous studies of the incidence of neurologic complications in AIDS reported in the US and European literature have yielded rates between 23-73%.

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Foram estudados e revistos 8 casos de pacientes com cordomas, diagnosticados no período compreendido entre janeiro de 1953 e dezembro de 1985, sendo 6 de localizaçäo intracraniana, 1 de origem sacrococcígea provável e 1 cervical. Analisaram-se dados clínicos de exame físico e neurológico, bem como métodos diagnósticos. Ressaltam-se a raridade do tumor, o predomínio deste em pacientes do sexo feminino e em território intracraniano (estes dois últimos dados conflitantes com os da literatura) e seu acometimento na faixa etária de 30 anos (idade média de 31 anos). Os cordomas apresentam sintomatologia diversa, dependente de sua localizaçäo; apesar de possuirem caracteres histológicos benignos, a sobrevida em 5 anos é baixa, por causa do seu comportamento infiltrativo, da ocorrência de recidivas após tratamento radioterápico e/ou cirúrgico e de eventuais metástases

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