Biomedical subjects
Publications and source records attributed to A A Carvalho.
We report a case of Miller Fisher syndrome and bilateral demyelinating optic neuropathy suggesting the possible involvement of central nervous system in this syndrome. The optic neuritis was confirmed by visual evoked potential.
A 16-year-old female patient had myoclonic epilepsy caused by Lafora's disease. Muscle biopsy showed a prominent splitting pattern in muscle fibers with the nicotinamide adenine nucleotide dehydrogenase-tetrazolium reductase reaction, hematoxylin-eosin, and PAS stains. This morphologic appearance of the tissue permits diagnosis using the benign technique of muscle biopsy. The ultrastructural examination of muscle may be necessary to confirm the diagnosis of Lafora myoclonus epilepsy if light microscopical findings are equivocal.
We report on a man that had weakness of humeroperoneal distribution associated with limited range of motion of the cervical spine and elbows since he was 5 years old. At age 26 he developed tachycardia episodes. A complex arrhythmia was discovered, and a nodal ablation was done with a cardiac pacemaker implanted. The patient had an arrhythmia and sudden death followed this. Emery-Dreifuss muscular dystrophy is a rare recessive X-linked muscular disorder where mixed patterns in electromyography and muscle histology (neurogenic and/or myopathic) have caused nosological confusion. The autopsy findings are here described and correlated to the clinical features in an attempt to better understand the ambiguous findings concerning the process etiology.
We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.
The second most common mutation associated with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) in Japan is the 3271 mutation. This mutation was found in a Brazilian family of Portuguese and Italian descent, indicating that this mutation also exists in a race other than Japanese. The propositus had mild clinical manifestations atypical of MELAS, suggesting that patients with the 3271 mutation exhibit heterogeneous phenotypic expression as seen in the 3243 mutation.
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The autosomal recessive limb-girdle muscular dystrophies (LGMD) represent a heterogeneous group of diseases which may be characterised by one or more autosomal loci. A gene at 15q has recently been found to be responsible for a mild form of LGMD in a group of families from the isolated island of Réunion, now classified as LGMD2. Based on results of eight out of 11 large Brazilian LGMD families of different racial background (which were informative for the closest available probe to the LGMD2 gene), we confirmed linkage to the LGMD2 gene at 15q in two of these families and exclusion in six others. These data provide the first evidence of genetic heterogeneity for the autosomal recessive limb-girdle muscular dystrophies.
The work reported here was carried out to study the importance of immunocytochemical staining of neuron-specific enolase (NSE) in the diagnosis of Hirschsprung's disease and to compare its results with those obtained by hematoxylin-eosin (H&E) staining in consecutive sections. A retrospective study was made on 51 rectal mucosal biopsies and 19 colorectal surgical specimens from 52 patients clinically suspected of Hirschsprung's disease. Several consecutive sections from all cases were restained by H&E and for NSE demonstration. Sixteen (31%) patients had a histological diagnosis of Hirschsprung's disease, 9 (17%) had hypoganglionosis, 4 (8%) had neuronal intestinal dysplasia, and 2 (4%) had normal histology. In eight patients (15%) hypoganglionosis remained dubious, and in 10 (19%) the diagnosis was inconclusive. Although the NSE staining improved the identification of the nervous tissue of the colon, both H&E and NSE staining proved to be of equal value in the assessment of the presence of neurons in the rectal wall of people with clinically suspected cases of Hirschsprung's disease. Ten H&E-stained sections from different levels of the biopsy specimen would be enough to detect ganglion cells in most cases.
With the help of orthopantomograms we analyse the tooth development beside body weight and height from Brazilian healthy boys and girls. So, their dental age were compared to their chronological age. The results of this investigation, according to the methodology employed, indicated that: 1. girls showed accelerated formation of permanent teeth and mean values of dental age higher than boys; 2. the mean values of dental age in girls were higher than their chronological age in all groups; 3. the teeth development stages were appropriate in assessment of the degree of physiological maturity of a growing child.
The present study was done to evaluate the possible association of bladder carcinoma with the slow acetylator phenotype in a portuguese population. 49 patients with bladder carcinoma were compared to a normal control group of 84 individuals. No statistically significant association was detected. But when subdividing the group of slow acetylators it is found that in the subgroup with 12-36% acetylation there is a higher percentage of patients, which is statistically significant. These results are in agreement with two other studies, using populations of similar ethnic origin.
Maternal and cord measles and rubella antibodies were compared in 15 populations from Brazil, Ecuador, Chile, India, Jordan, Nigeria, South Africa, Taiwan, and the United States. Review of the literature concerning these countries showed that a higher proportion of children 6-12 months of age responded immunologically to measles vaccine in areas with low per capita product than in wealthier populations. The authors show that this difference reflects differences in maternal antibody titer and differences in efficiency of transport of measles immunity across the placenta. No variation in the half-life of passive measles immunity in the infant was found in comparing three geographic areas. When these biologic factors are fully evaluated, it should be possible to predict the response to be expected from vaccination at any particular age without directly testing the vaccine in children below and above generally recommended ages for vaccination. With regard to rubella, high antibody prevalence rates were found in most of the developing countries, as well as in the United States, and these countries are therefore unlikely to encounter widespread problems with congenital rubella. However, Taiwan, and all of four areas of Brazil have prevalence rates which are no higher than those which pertained in the United States prior to establishment of the rubella immunization program. The authors believe that protection of the infants in these countries is a matter of high priority, but that, if approached hastily, it could exacerbate the problem.
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Seven children suffering from marasmus were investigated clinically, biochemically and morphologically. The fine structure of the jejunal mucosa obtained by peroral biopsy was evaluated. The mucosal changes noted agree with the only other ultrastructural study reported by Brunser et al. (8) and add information on three additional features: an increase in theliolymphocytes, excessive epithelial cell extrusion and abnormalities in the appearances of the mucosal plasma cells, suggesting possible local deficiency in immune function.
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We describe a new type of radiation dosimeter, for the diagnostic x-ray region, using a pyroelectric detector. It consists of a PZT ceramic crystal thick enough to absorb all the incident radiation at 33 keV. This pyroelectric radiation dosimeter (PERD) produces an electrical signal when exposed to a chopped beam of x-ray photons. The PERD is basically a microcalorimeter. It has the following characteristics: (1) it responds linearly to the energy fluence rate of the radiation; (2) it responds linearly to the radiation intensity for a given radiation spectrum; (3) it has excellent stability; (4) it is simple to construct and inexpensive; and (5) it is rugged.
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This paper describes two simple thermal methods for measuring the energy fluence in J/cm2 from a diagnostic x-ray exposure. Both detectors absorb essentially 100% of the radiation and give a signal that is directly proportional to the energy fluence of the x-ray beam. One detector measures the thermal effect when a pulse of x rays is totally absorbed in the pyroelectric detector of lead-zirconium-titanate (PZT). The other detector measures the expansion of a gas surrounding a lead disk detector in a photoacoustic chamber. The increased pressure of the gas is transmitted through a 1-mm duct to a sensitive microphone. Both detectors have previously been used to measure the energy fluence rate of continuous x-ray beams in the same energy region using a chopped beam and a lock-in amplifier. Measurement of the energy fluence of a pulse of radiation eliminates the need for the beam chopper and lock-in amplifier and results in a simple, rugged, and inexpensive dosimeter. Either method can be combined with the area of the beam to give an estimate of the imparted energy to the patient from a diagnostic x-ray exposure.