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Biomedical subjects

M Scaff

Publications and source records attributed to M Scaff.

At least 73 records · Page 4Linked to original sources
PubMed1985

[Hepatolenticular degeneration: critical evaluation of the diagnostic criteria in 95 cases].

Ninety-five cases of hepatolenticular degeneration have been studied, focusing particularly the clinical and laboratory characterization of the disease. On the clinical viewpoint the variability of the starting symptoms and the frequency of the Kayser-Fleischer rings were analyzed. As regards the laboratory findings the ceruloplasmin, blood and urinary copper, and aminoaciduria levels have been evaluated, as well as the radiological and scintillographic study of joints and bones, cranial computerized tomography and liver biopsy. In 54.4% of the cases the opening clinical picture was neurological, in 31.1% hepatic, in 14.4% psychiatric, in 7.8% osteoarticular, in 2.2% ophtalmologic (Kayser-Fleischer rings), in 1.1% hematologic (hemolytic anemia), and in 1.1% cardiac. Kayser-Fleischer rings were present in 84 of the 92 cases in which they have been searched for (91.3%). Concerning the laboratory findings, hypoceruloplasminemia was found in 98.8% of the cases in which it was investigated, hyperaminoaciduria in 94.7%, hypocupremia in 87.0%, increased cupruresis in 78.2%, osteoporosis in 79.4%, scintillographic changes of the joints in 67.6%; the CT-scan, performed in 11 cases, showed low attenuation areas in the basal ganglia of 2 patients. The significance of the mentioned laboratory findings and the presence of the Kayser-Fleischer rings for the diagnosis of Wilson's disease is discussed.

Amino Acids↗
PubMed1985

[Retinal periphlebitis in multiple sclerosis. Report of a case].

Sheathing of peripheral retinal veins occurs in 10 to 20% of patients with multiple sclerosis and can be seen at any point in the progression of the disease. This finding may represent the retinal correlate of the vascular lesions that are present in the central nervous system of patients with multiple sclerosis. Its pathogenesis is still uncertain. In this paper it is registered the occurrence of retinal periphlebitis as one of the initial manifestations of a patient with multiple sclerosis and it is discussed the diagnostic implications of this finding.

Adolescent↗
PubMed1984

[Thyroid diseases and myasthenia gravis].

In a group of 304 myasthenic patients 15 cases with thyropathies were reported: nine with hyperthyroidism, one with hypothyroidism and five with nontoxic goiter. Four patients presented diffuse simple goiter and one a multinodular goiter with normal thyroid function. No patient came from an endemic goiter region, not even familial goiter. The prevalence and influence of hyperthyroidism on myasthenic symptomatology were studied. Our findings suggest that there is no clinical correlation between both myasthenia symptomatology and thyroid dysfunction, neither significant influence on myasthenic symptoms when the endocrine disorders improve.

Adolescent↗
PubMed1984

[Menkes syndrome: review of the pathogenesis apropos of a clinico-pathological case].

The authors report a case of Menkes' syndrome, probably the first one described in Brazil. The patient, a 15-month-old boy, showed pili torti, early progressive psychomotor deterioration and seizures. Serum levels of ceruloplasmin and copper were very low. Neuroradiological and roentgenological examinations revealed diffuse cerebral atrophy, arterial changes and bone abnormalities. At the post-mortem examination the more consistent findings were cerebral atrophy, neuronal loss in the thalamus and above all cerebellar cortical lesions. The disease has a sex-linked recessive inheritance and is believed to be caused by an inborn error of copper metabolism, perhaps subordinated to changes of proteins which carry copper to different tissues. The relevant literature in relation to the pathogenesis is reviewed.

Brain Diseases, Metabolic↗
PubMed1984

[Myasthenia gravis induced by D-penicillamine in a patient with progressive systemic sclerosis].

The development of autoimmune diseases in some patients treated with D-penicillamine (DPA) suggests that the reported occurrence of a conduction disorder at the neuromuscular junction and the development of a reversible myasthenia gravis in rheumatoid disease, progressive systemic sclerosis or Wilson's disease after the use of DPA are part of a general predisposition for autoimmune disease related to DPA therapy. The case reported is an example. The DPA- induced myasthenia gravis (MG) is similar to the spontaneous MG clinically and electrophysiologically, though ocular signs prevail in the former. Antibodies to acetylcholine receptor have been demonstrated and thymic hyperplasia also has been formed. Regarding the onset of myasthenic manifestations the duration of the treatment with DPA varies from 6 to 10 months. The action of DPA on the neuromuscular junction is different from that occurring in spontaneous MG. The pathogenesis of the DPA induced MG is still obscure. The chemical properties of DPA permit it to react with many proteins and some alteration of proteins may appear, with structural changes in the composition and antigenicity of the collagen fibers. In vitro DPA causes disorder of acetylcholine receptor bridges to alpha, beta, gamma sub-units with reduction of the S-S bridges in the gamma-subunit. This decreases the linkage of high affinity and abolishes its positive cooperative system, reducing the S-S connection in the alpha-unit near the acetylcholine linkage. The interaction between DPA and receptor may induce antigenic alteration in this latter, starting the autoimmune phenomena. The other possibility is the stimulation of prostaglandin E-1 synthesis by DPA may fill the allosteric place of ACh receptor, interfering on the neuromuscular junction.

Adult↗
PubMed1983

[Anesthesia for transsternal thymectomy in myasthenia gravis].

Twenty-seven patients with generalized myasthenia gravis (moderate, severe and acute fulminating forms) who underwent thymectomy were studied. The effects of several anesthetic agents were analyzed with special attention being given to immunologic considerations. The authors conclude that the association of ketamine, tiapride, droperidol, fentanil and nitrous oxide allowed fast recovery of consciousness and spontaneous respiration, and made safe extubation possible before leaving the operating room.

Adolescent↗
PubMed1983

Cerebrotendinous xanthomatosis: clinical and laboratory study of 2 cases.

Cerebrotendinous xanthomatosis is an unusual disease, clinically characterized by dementia, cataracts, progressive cerebellar ataxia, pyramidal signs, and multiple xanthomas of tendons and other tissues. It was first described in 1937, and in 1968 the storage of cholesterol and cholestanol in the tissues was demonstrated. About 30 cases have been reported. The authors of the present communication report 2 cases in siblings with parental consanguinity. They showed mental impairment and cataract, and multiple xanthomas; in 1 case, pyramidal signs were detected in the 4 limbs associated with a rise of the vibration sense thresholds in the feet. The diagnosis was confirmed in both cases by greatly increased cholestanol levels in the blood serum, bile and in a tendon xanthoma. Cholesterol concentrations in the blood serum and bile were normal although increased in the xanthoma. One case had a gallstone. Computerized tomography showed hyperdense nodules in the cerebellar hemispheres of one patient, and a calcified parietal nodule in his sister. The etiopathogenesis of the disease is discussed. Treatment with ursodeoxycholic acid is in course in both patients.

Adult↗
PubMed1983

[Huntington chorea: report of 16 cases].

The neuropsychiatric aspects and both hereditary and therapeutic study from 16 patients with Huntington's chorea are presented. The differential diagnosis from a clinical approach has been emphasized. The results of this research and those of the literature were compared.

Adult↗
PubMed1983

[Recurrent polyradiculoneuritis: report of 2 cases].

Two cases of patients with relapsing polyradiculoneuropathy with high protein level in cerebrospinal fluid are reported. The immunological features and the natural history of the relapsing polyradiculoneuropathy are discussed. This disease is considered a particular auto-immune nosologic condition, independent from acute polyradiculoneuropathy.

Adolescent↗
PubMed1982

[Miller Fisher syndrome. Report of a case].

The case of a man 34 year-old presenting upward gaze paralyses and external ophthalmoplegia without involvement of the downward gaze, accompanied by cerebellar disorders, generalized areflexia but no muscular weakness, and moderate sensory impairment of the four extremities is reported. The cerebrospinal fluid showed an albuminocytologic dissociation. Recovery was rapid and almost complete, within 3 weeks, remaining minimal paresis of the upward gaze and lateral movement in both eyes. The improvement had been coinciding with the treatment by cortrosina.

Adult↗
PubMed1981

[Neurobrucellosis: report of 3 cases].

Three cases of probable neurobrucellosis are reported. The diagnosis was made on the basis of immunological tests. Two patients with a clinical picture of meningomyelitis showed a definitive clinical improvement under tetracycline and streptomycin therapy. The immunological reactions found in the record case were even more positive in the spinal fluid than in the blood. In the case 3 with a clinical presentation of cerebral hemorrhage the histopathological studies demonstrated non specific chronic leptomeningitis and local hemorrhages in the caudate nucleus bilaterally. The diagnose and treatment of neurobrucellosis are discussed, stressing the importance of an early therapy.

Adolescent↗
PubMed1981

[Intracranial tuberculous arachnoiditis: report of a case].

The case of a 28-year-old male affected by intracranial tuberculous arachnoiditis with unusual aspects is reported. The patient presented bilateral amaurosis and complete ophthalmoplegia with intrinsic muscle sparing in both sides. The routine laboratory findings showed only persistent leucocytosis and a Mantoux test of 10 mm. Several radiologic studies of the lungs were always normal. The spinal fluid, tomography of the cranial base and carotid angiography were normal. The diagnosis was made by histologic study after craniotomy.

Adult↗