Search PubMed⌕ Search

Biomedical subjects

A S Oliveira

Publications and source records attributed to A S Oliveira.

At least 19 recordsLinked to original sources
PubMed2001

Nebulin expression in patients with nemaline myopathy.

Nemaline myopathy is a structural congenital myopathy which may show both autosomal dominant and autosomal recessive inheritance patterns. Mutations in three different genes have been identified as the cause of nemaline myopathy: the gene for slow alpha-tropomyosin 3 (TPM3) at 1q22-23, the nebulin gene (NEB) at 2q21.1-q22, and the actin gene (ACTA1) at 1q42. The typical autosomal recessive form appears to be the most common one and is caused by mutations in the nebulin gene. We have studied the pattern of nebulin labeling, in patients with the typical congenital form (ten patients), the severe congenital form (two patients) or the mild, childhood-onset form (one patient), using antibodies against three different domains of nebulin. A qualitative and quantitative nebulin analysis in muscle tissue showed the presence of nebulin in myofibers from all patients. Some differences relating to the rod structure were observed. The majority of the largest subsarcolemmal rods were not labeled with the N2 nebulin antibody (I-band epitope) and showed an indistinct pattern with the two antibodies directed to the Z-band portion of nebulin (epitopes M176-181 and serine-rich domain). Diffuse rods were not revealed using the three antibodies. A discordant pattern of nebulin N2 epitope labeling was found in two affected sisters with a mutation in the nebulin gene, suggesting that modifications in nebulin distribution inside the rods might occur with the progression of the disease. Western blot analysis showed no direct correlation with immunofluorescence data. In nine patients, the band had a molecular weight comparable to the normal control, while in one patient, it was detected with a higher molecular weight. Our results suggest that presence/absence of specific nebulin Z-band epitopes in rod structures is variable and could depend on the degree of rod organization.

Adolescent↗
PubMed2001

Myasthenia gravis in children: analysis of 18 patients.

Myasthenia gravis (MG) in childhood is rare comprising 10 to 20 % of all myasthenic patients. We studied 18 patients with MG whose first symptoms started from 1 to 12 years of age, followed at the Department of Neurology of the UNIFESP-EPM, from January 1983 to August 1997. There were 10 girls and 8 boys (1.2:1). Eleven patients (61%) presented moderate or severe generalized disease and 4 (22%) had at least one myasthenic crisis. EMG with supramaximal repetitive nerve stimulation was diagnostic in 8 (47%) out of 17 patients, and chest CT was normal in 14 patients. Seropositivity to acetylcholine receptor antibodies was found in 81.6% (9 out of 11 tested) and the levels had no relation to clinical severity. Nine out of 16 patients (56%) worsened with pyridostigmine alone and were treated with prednisone. Four out of those nine continued worsening despite steroids and were subjected to thymectomy (all showed thymic lymphoid follicular hyperplasia). Three patients (75%) improved markedly after thymectomy and one (25%) worsened, eventually getting better with intravenous immunoglobulin and oral azathioprine. MG treatment, using all resources available, has to be individualized for each child.

Age of Onset↗
PubMed2001

[Oropharyngeal dysphagia in the myotonic dystrophy: phonoaudiological evaluation and nasofibrolaryngoscopical analysis].

We here in present twenty myotonic dystrophy of Steinert patients with the main objective to evaluate and classify the oropharyngeal swallowing by the phonoaudiological clinical and nasofibrolaryngoscopical analysis. The age of the patients varied from 12 to 53 years, being 13 male and 7 female. The mean data: (1) statistically significant relation between the phonoaudiological clinical evaluation and nasofibrolaryngoscopical one; (2) stomatognatical system disorders present in 100%; (3) swallowing disorders present in 95%, when clinically evaluated, and in 70% when evaluated by the nasofibrolaryngoscopy; (4) higher difficulty to swallow consistent feed; (5) stomatognatical muscles very altered, pharyngeal phase disorders, cough after swallowing, antecedents of pneumonia and complaints of chewing/swallowing presented statistically significant correlation with severity of the sickness. The analysis were able to evaluate statical and functionally the involved structures in the swallowing, having got to take part of the routine of attendance to the patients with myotonic dystrophy of Steinert.

Adolescent↗
PubMed2000

Temporomandibular joint involvement in a patient with centronuclear myopathy.

We describe here the temporomandibular joint and masticatory muscle abnormalities disclosed by computed tomography and magnetic resonance imaging in a 25-year-old man with centronuclear myopathy (a congenital myopathy) who presented with marked limitation of jaw movements. We found an intense and general fatty replacement of the masticatory muscles, and magnetic resonance imaging signals indicated articular fibrosis. We conclude that in centronuclear myopathy, the presence of weakness and hypomotility of the masticatory muscles can induce chronic abnormalities of the temporomandibular joint.

Adipose Tissue↗
PubMed2000

Amyotrophic lateral sclerosis in Brazil: 1998 national survey.

OBJECTIVES: To assess the epidemiologic characteristics of amyotrophic lateral sclerosis (ALS) in Brazil in 1998. METHOD: Structured Clinical Report Forms (CRFs) sent to 2,505 Brazilian neurologists from January to September 1998 to be filled with demographic and clinical data regarding any ALS patient seen at any time during that year. RESULTS: Five hundred and forty CRFs were returned by 168 neurologists. Data on 443 patients meeting the criteria of probable or definite ALS according to El Escorial definition were analysed: 63 probable (14.2%) and 380 definite (85. 8%). Two hundred and fifty-nine (58.5%) of the patients were male, mean age of onset was 52. Spinal onset occurred in 306 patients (69%); bulbar onset in 82 (18.5%), and both in 52 (11.7%). Twenty-six (5.9%) had a family history of ALS. Two hundred and fifty-nine (58.6%) were seen by private practitioners, and 178 (40. 2%) at a hospital clinic. Age-ajusted incidence shows a peak incidence at the 65-74 years old range. CONCLUSIONS: The disease's characteristics are similar to those described in international studies, except for age of onset (Brazilian patients are younger). This difference is not confirmed when figures are age-adjusted.

Age of Onset↗
PubMed1999

Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population.

Sarcoglycanopathies (SGPs) constitute a subgroup of limb-girdle muscular dystrophies (LGMD), where the primary defect in one sarcoglycan (SG) glycoprotein (alpha-SG, beta-SG, gamma-SG or delta-SG) results in a deficiency of the whole complex. Four genes, at 17q, 4q, 13q and 5q, encode the four glycoproteins, and mutations in these genes cause diseases called LGMD2D, 2E, 2C and 2F. To estimate the prevalence, relative proportions and clinical features of SGPs, we have studied the SG proteins in muscle biopsies of 140 patients (from 115 unrelated Brazilian families) with a clinical diagnosis of LGMD. Alpha-SG immunofluorescence analysis showed a positive staining pattern in 70% (80/115) of the families, a patchy pattern in 14% (16/115) and a negative pattern in 16% (19/115) of the families. All the 19 alpha-SG negative, and four of the 16 alpha-SG patchy patients were also deficient for the other three SG proteins, confirming the diagnosis of SGP in 20% of the LGMD families. None of the positive alpha-SG patients were deficient for any of the other three SG proteins, supporting the view that the SG complex functions as a unit. DNA analysis for the four sarcoglycan genes showed that alpha-SG mutations accounted for 47%, beta-SG for 16%, gamma-SG for 16% and delta-SG for 21% of the cases. SG abnormalities were observed in only 8.5% of patients with milder LGMD forms, but were present in 68% of patients with a severe Duchenne-like course. The relatively high frequency of SGP among Brazilian people with LGMD may be due to the disproportionally high frequency of African Brazilian SGP patients with the same mutation (particularly among LGMD2C and 2F patients), suggesting a founder effect. Consanguinity is also common in our SGP families.

Adolescent↗
PubMed1999

[Multiple sclerosis. Clinical survey of 50 patients followed at the Ambulatory of Neurology UNIFESP-EPM].

Multiple sclerosis, seems to be a rare disease however in the population herein studied it is similar to the one described by others, in Brazil and abroad. We studied 50 patients classified according Poser's criteria that were followed at the Department of Neurology UNIFESP-EPM from 1983 to 1995. The clinical findings of these 50 patients were similar to those described in other series. We found a high prevalence among female young patients who presented relapsing-remitting evolution. The most common symptoms were those related to pyramidal and cerebellar dysfunctions. The EDSS score seems to be worse in patients with specific cerebellar and pyramidal signs, higher number of relapses and longer time of disease but it is not related to the number of white matter lesions found at MRI.

Adult↗
PubMed1999

Cognitive profile of patients with relapsing remitting multiple sclerosis.

Multiple sclerosis (MS) is a common disease in Western countries of temperate/cold climate, but in tropical countries an increasing number of cases have been diagnosticated. Moved by the lack of information about cognitive dysfunction of Brazilian MS patients, the present study attempted to describe features of neuropsychological alterations in patients with relapsing remitting MS living in the city of São Paulo. They were compared to healthy volunteers, matched for age and education. In the absence of global intellectual deterioration, the patients had a deficit: a) in learning and verbal long-term memory tasks and in visual long-term memory of complex figure; b) in timed tasks, accounted for by a slowness of mental processes; c) in tasks with a motor component. Tendency to depression was observed; anxiety levels were normal.

Adolescent↗
PubMed1998

Centronuclear myopathy: clinical aspects of ten Brazilian patients with childhood onset.

We herein present 10 patients with the childhood onset form of centronuclear myopathy. All patients underwent a clinical and neurologic examination, and EMG/NVC. A series of ancillary examinations, consisting of muscle enzymes, EEG, EKG, echocardiogram, pulmonary function tests and head CT scan was done in most. The mean age was 16.3 years (3-25). Seven were female. There was no family history in seven and in two it was suggestive of an autosomal recessive inheritance. One patient was adopted and no history was available. Frequent gestational and neonatal abnormalities were present, namely poor fetal movements, maternal polyhydramnios, perinatal hypoxia, hypotonia at birth, and weak crying and feeding. In seven patients there was delayed motor milestones. In most patients the motor involvement was stable or slowly progressive. Upon examination the facies were myopathic and there was a global skeletal muscle involvement in all patients, with muscular hypotonia, atrophy, and areflexia. Characteristically, patients presented with ophthalmoparesis, and weakness of masticatory and facial muscles. We frequently found osteoskeletal abnormalities, namely kyphoscoliosis, tendon retractions and high-arched palate. A restrictive pulmonary function pattern was found in five patients, but only one had a cor pulmonale. CK was abnormally high in one patient, and normal in all others. EMG/NVC disclosed a myopathic pattern in nine; in three there was a mixed neurogenic picture; and in one we found myotonic discharges. A long follow-up (median 8.1 years) showed that only the patient with cor pulmonale had an unfavorable prognosis.

Adolescent↗
PubMed1998

Centronuclear myopathy. Histopathological aspects in ten patients with childhood onset.

Centronuclear myopathy is a rare congenital myopathy. According to the period of onset of signs and symptoms and the degree of muscular involvement three clinical forms are distinguished: severe neonatal; childhood onset; and adult onset. We describe herein the muscle biopsy findings of ten patients with the childhood onset form of the disease including three cases with ultrastructural study. The biopsies disclosed increased nuclear centralization that varied from 25 to 90% of the fibers, type I predominance, great variability in fiber diameters, involvement in the internal fiber's architecture, and focal areas of myofilament disorganization. The main histopathologic differential diagnoses included type I fiber predominance, congenital fiber type disproportion, and myotonic dystrophy. The histologic abnormalities in centronuclear myopathy may be due to an arrest of maturation on the fetal myotubular stage. The cause of this arrest remains elusive.

Adolescent↗
PubMed1998

Histochemical study of the skeletal muscle in children with chronic renal failure in dialysis treatment.

Among the modifications occurring in the uremic organism, in addition to the consequences of dialysis, myopathy and peripheral neuropathy are very significant. Children are particularly affected, as their growth and development are jeopardized. Histochemistry of muscular biopsy was used to study eighteen children with end-stage renal failure under dialysis during a ten-month period. According to our results, the skeletal muscular tissue presented the following types of alterations: atrophy, type grouping, lipidosis, glycogen depletion and mitochondrial proliferation.

Adolescent↗
PubMed1997

Mitochondrial DNA defects in Brazilian patients with chronic progressive external ophthalmoplegia.

We report herein on eleven Brazilian patients with mitochondrial DNA (mtDNA) deletions, found among thirteen patients with chronic progressive external ophthalmoplegia (CPEO) and ragged-red fibers (RRF). The molecular data was correlated with the morphological and clinical findings. The muscle biopsies were studied by histochemistry, immunohistochemistry and DNA analysis. Muscle mtDNA deletions were mapped and quantitated by Southern blot analysis, polymerase chain reaction and sequencing. Of the eleven patients, ten had CPEO without multisystemic involvement and one had Kearns-Sayre syndrome. Three patients had multiple deletions, two of them with no apparent family history. Eight patients showed heteroplasmic single deletions, ranging in length from 2309 to 7566 bp; three of them had the same 'common deletion' of 4977 bp. The proportion of deleted mtDNA ranged from 14 to 89%. Immunohistochemical studies revealed decreased reactivity with the mtDNA-encoded subunit II of cytochrome c oxidase (COX) in all patients, but preserved activity with the nuclear-encoded COX subunit IV in COX-deficient fibers. Two cases presented a few COX-negative fibers with reduced COX IV immunostaining. We found a high frequency of mtDNA deletions in Brazilian patients with CPEO. There was no correlation between clinical severity, morphological findings and the size or amount of the mutated mtDNA in muscle, suggesting that there are still unknown factors influencing the disease phenotype.

Adolescent↗
PubMed1997

[Chronic inflammatory demyelinating polyradiculoneuropathy. Study of 18 cases].

This is a prospective study that describes 18 patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), idiopathic type. The patients have been followed for a period of 4 to 127 months. We evaluated the clinical characteristics, the evolution, and therapeutic response. Male patients outnumbered female patients in a proportion of 1.25:1. Symptoms first appeared at an age ranging from 6 to 85. Most of the patients denied the occurrence of preceding events and a progressive evolution prevailed over relapsing evolution. All patients had both motor and sensory dysfunction associated with loss of tendon reflexes, and only three patients (16.7%) had cranial nerve involvement. The cerebrospinal fluid protein levels were increased in 88.9% of the patients and mean level was 203.4 mg/dl. Electrophysiological studies revealed demyelination in all patients and axonal damage in 94.4%. Preponderant characteristics in the sural nerve biopsy of seven patients showed demyelination and remyelination, and changes indicative of axonal damage were often present. The anti-HLA Dr antibodies were found in the sural nerve of one patient and anti-CD3 antibodies in the sural nerve of two. All patients were first treated with prednisone. The drug was maintained in reduced doses and given in alternate days to 72.2% of the patients with success. Two patients (11.1%) are asymptomatic even after the withdrawal of all medication. We administered azathioprine, associated or not with corticoid, to the four patients who had not had a satisfactory response to the prednisone treatment. By the time of the last evaluation 16 patients (88.9%) had functional improvement.

Adult↗
PubMed1996

Acute necrotizing myopathy and podophyllin toxicity. Report of a fatal case.

A 21 year old male ingested podophyllin in a suicide attempt. The disorder was marked by seizures, coma, peripheral neuropathy, renal failure and acute necrotizing myopathy, an unusual finding. The coma and systemic disturbances resolved within three weeks. The myopathy resolved in 7 weeks, demonstrating a high capacity of muscle recuperation. The sensorimotor peripheral neuropathy persisted until the patient's death 9 weeks after the ingestion, due to septicemia. This report confirms the transient central neurotoxicity of podophyllin and persistent peripheral neurotoxicity of podophyllin, and describes a reversible necrotizing myopathy associated to mitochondrial abnormalities, a still unreported feature of podophyllin toxicity.

Adult↗
PubMed1996

Spinal muscular atrophy type II (intermediary) and III (Kugelberg-Welander). Evolution of 50 patients with physiotherapy and hydrotherapy in a swimming pool.

We added hydrotherapy to 50 patients with spinal muscular atrophy (SMA) who were being treated with individual conventional physiotherapy. Hydrotherapy performed at an approximate temperature of 30 degrees Celsius, twice a week, for thirty minutes in children and forty-five minutes in adults during a 2-year period. The outcome derived from this combined modality of treatment was rated according to physiotherapeutic evaluations, the MMT (Manual Muscular Test), and the Barthel Ladder. Patients were reevaluated at 2-month intervals. After two years of ongoing treatment, we were able to observe that the deformities in hip, knee and foot were progressive in all SMA Type II patients, and in some Type III. Muscle strength stabilized in most SMA Type III patients, and improved in some. MMT was not done in SMA Type II. In all patients we were able to detect an improvement in the Barthel Ladder scale. This study suggests that a measurable improvement in the quality of daily living may be obtained in patients with SMA Types II and III subjected to conventional physiotherapy when associated with hydrotherapy.

Adolescent↗
PubMed1994

Skeletal muscle involvement in tropical spastic paraparesis/HTLV-1-associated myelopathy.

The frequency of muscle involvement in TSP/HAM is not known, nor is the precise role that HTLV-1 and the diverse cytokines play in the genesis of HTLV-1-associated diseases. In order to better define the frequency and characteristics of the skeletal muscle involvement in TSP/HAM, we studied 11 affected patients. EMG was performed in 9 patients and muscle biopsy was performed in all 11. Muscle tissue was analyzed using: reverse transcriptase PCR for interleukin-1 in 8; PCR for HTLV-1 proviral DNA in 5; and electron microscopy for viral particles in 3. We found pathologic alterations in all 11 patients. Four patients (36%) had a neurogenic process, while a primary muscle involvement was observed in the rest (64%). Four patients (36%) had polymyositis, and 3 (27%) had a noninflammatory myopathy. Muscle weakness in the upper limbs was significantly associated with inflammation in the muscle biopsy. EMG was abnormal in only 2 of 9 patients. Reverse transcriptase PCR did not demonstrate message for interleukin-1 in any sample examined. PCR did identify HTLV-1 proviral DNA in the muscle of 3 patients. Retroviral-like particles were found, by EM, in only one biopsy. HTLV-1 may play an important role in the pathogenesis of the frequent myopathies associated with HAM/TSP.

Adult↗
PubMed1994

[Periodic paralysis: anatomo-pathological study of skeletal muscles in 14 patients].

Periodic paralysis is a rare disease, characterized by transient weakness associated with abnormal levels of serum potassium. Muscle biopsy may show a wide range of abnormalities, vacuoles being more specifically linked to the disease. We analysed 17 muscle biopsies from 14 patients with periodic paralysis (14 hypokalemic, 2 hyperkalemic). All of them showed at least one histological abnormality. Fourteen specimens showed vacuoles that were peripheral, single, frequent and preferentially found in type I fibers. Frequency or severity of attacks did not correlate with the presence of vacuoles but those were more easily found in patients with long term disease. Ten biopsies showed tubular aggregates, specially on the patients with frequent crises or long term disease. A second biopsy was done in three patients and in two we observed a worsening of the histopathologic picture. One patient manifested interictal weakness with evident myopathic changes on the muscle biopsy. Nonspecific changes were found in variable degrees in 15 biopsies. Our study shows that vacuoles and tubular aggregates are frequent changes in periodic paralysis and therefore helpful for the diagnosis. Important myopathic findings in the muscle biopsy suggest a permanent myopathy which probably develops after severe crises or long term disease.

Adolescent↗