Eyelid dystonia in Machado-Joseph disease.
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Biomedical subjects
Publications and source records attributed to J P de Mattos.
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We present a brief review of the literature about dopaminergic agonists. We report the five known dopaminergic receptors, where they are located, the advantages and disadvantages of the employment in parkinsonian patients. The dopaminergic agonists were introduced to control the limitations of levodopa-increasing the therapeutic window. We analyse the pharmacocynetic efficacy and the side effects of cabergoline, ropinirole and pramipexole.
After the review of the literature the author presents the semiologic basis for the differential diagnosis of rest and action tremors. The parkinsonian, severe essential, rubral, tardive, postural, kinetic and the task or position-specific tremors are mainly analysed.
Extramedullary hematopoiesis is a common accompaniment of a variety of hematologic diseases such as hereditary spherocytosis, thalassemia and myelofibrosis. The association of extramedullary hematopoiesis with polycythemia vera in the proliferative phase is much less usual. We report a patient who presented with paraplegia due to spinal cord compression; clinical investigation revealed a paravertebral hematopoietic tumor, and the diagnosis of polycythemia vera was then established.
The concept of tic was developed at the end of the XIX century, emerging from the "chaos of choreas". Tic is defined as involuntary contractions of agonist and antagonist muscles in one or more parts of the body. It can be suppressed by voluntary efforts for seconds or hours, followed by exacerbations. Gilles de la Tourette's original article was published in 1885, in which he described nine patients with tics, and vocalisations. The pathogenesis of Gilles de la Tourette syndrome remained obscure. However, three factors have been considered: the neurochemical factor, related to the increased dopaminergic activity at the basal ganglia; the genetic factor and the non-genetic factors, for which environment more than genetic factors are involved. Pathologic examinations failed to reveal structural lesions, but PET studies showed metabolic hypofunction on the frontal, cingulate and possibly insular cortex, and on the inferior corpus striatum. The motor tics as well as the vocal tics can be simple or complex and are present in all patients. Other signs can be added to the previous tics: sensory tics, echophilia, coprophilia, obsessions, compulsions and impulsions. Diagnostic criteria of Gilles de la Tourette syndrome are based on: age of onset; presence of motor and vocal tics; voluntary suppression of the movements; variation in number, type, location and severity of tics; duration of more than one year. Haloperidol is the drug of choice for the treatment of Tourette's syndrome.
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Brains from four parkinsonian patients and one control patient were analysed by electron microscopy. The most consistent abnormal findings were nerve fibers rarefaction, great interstitial space enlargement, neuropil disruption, mitochondrial tumefaction and degenerative changes. These findings occurred regularly in the brain of parkinsonian patients. Furthermore, except for mitochondrial changes, they were distinctively absent in the control patient, and therefore cannot be attributed to technical problems. Contrary-wise, they clearly reflect chronic neuronal loss. Also noteworthy was the demonstrative of deposits of amorphous substance into mitochondria, axons, cytoplasm and into the interstitial space.
Spinal adhesive arachnoiditis is not an uncommon disease, usually having a monophasic course. We studied an atypical patient with recurrent spinal adhesive arachnoiditis nine years after intrathecal anesthesia and the first attack of the disease. Also noteworthy was the favorable evolution after surgery.
The authors report a pertinent documented with subsidiary examination uncommon case of sensitive-motor polyneuropathy, in the course of hyperthyroidism, looking like be coherent to give it the name of "thyrotoxic polyneuropathy". In despite of few scientific works on this subject, strong arguments are presented intending to link the process of hyperthyroidism and the progressive degeneration, distal, symmetric and simultaneous, of peripheric nerves. Final considerations show the difficulty of recognizing the etiopathogeny of the degenerative process of peripheral nerves remembering the possibility of toxic, carencial or auto-immune nature.
The authors report the usefulness of the skull's computerized tomography for the exact diagnosis of the meningiomas. The 16 cases reported were comproved surgical and histologically. The average was 52.1 years. They dealt out 10 females and 6 males. According to their localization, there are 5 on the orbital cavity and/or sphenoid ridge (31.2%), 3 of the falx (18.7%), 3 parasagitals (18.7%), 2 suprasellars (12.5%), 2 of the convexity (12.5%) and 1 of the tentorium (6.2%). The authors concluded that the computerized tomography of the skull is of high positiveness (95-98%), without damages for the patient, and nowadays it allows precocity in diagnosis, and, consequently, with better therapeutic results.
Three women with extrinsic oculo-muscular distrophy were studied. In two patients the symptoms were began at 25 and another one at 56 year-old. Non myogenic features were observed: in case one there was familial otosclerosis. This patient had impossibility to beget children. Her first menstruation was observed at 19 and the last at 40 year-old, like to case 2, which was the only to have electrocardiographic alterations. Romberg's signal and profound hyporeflexia was obtained in case 3, whose family had a lot of member with cataract. Biopsy of the non ocular muscles was made too, in spite of patient's symptoms had been concerning to ocular muscles only. All of non ocular muscles had myogenic features. In electromyogram examination of non ocular muscles the myogenic features were observed too. Therefore, we believe in diffuse myogenic process in spite of ocular manifestation had been the only patient's complaints.
A case of chronic bulb-pontine paralysis with deafness, with early onset, coursing along nine years is reported. There seem to be histopathologic and electromyographic evidences on which is concluded to be a variant form of juvenile amyotrophic lateral sclerosis (Van Laere form).
Personal experience with brain gangliosides in the treatment of peripheral neuropathies is reported. The clinical and electromyographic trials were efficacious in 30 of 40 treated cases. The authors emphasize their better results in peripheral facial palsy cases.
A case of transverse myelopathy in systemic lupus erythematosus with subacute onset and fatal course is reported. A review of the literature is done and clinical, laboratorial, therapeutics and pathological aspects are discussed. The authors call attention to the poor results of therapy and discuss the participation of immunological factors leaving to demyelination which are, aside the classical vascular involvement, the probable mechanisms in the neurological manifestations of systemic lupus erythematosus. The authors believe that, in their case, such a demyelinative mechanism was responsible for the clinical picture, although a necroscopic examination was not allowed.
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