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Biomedical subjects

M Scaff

Publications and source records attributed to M Scaff.

At least 109 records · Page 6Linked to original sources
PubMed1976

Familial myasthenia gravis. Report of four cases.

Two pairs of siblings with myasthenia gravis, belonging to two different families, are reported. This is the only record of familial myasthenia during the past twenty years, in a total of 145 patients seen at the Neurological Clinic of the São Paulo Medical School. In spite of the fact that myasthenia gravis does not show hereditary characteristics, the peculiar features of the four cases justify the present report. The two pairs of siblings were born from non myasthenic nor consanguineous parents. The disease started at birth showing bilateral partial eyelid ptosis in all patients. The course of the illness has been favorable. There was no thymoma.

Adult↗
PubMed1975

Type I primary neuropathic amyloidosis (Andrade, portuguese).

The authors present a review of 21 cases with the diagnosis of type I amyloid neuropathy based on epidemiological data, clinical evolution and histopathological findings. They call attention to the possibility of cranial nerves involvement (hyposmia, diplopia, masseterian hypotrophy, peripheral facial paralysis, hypoacusis, dysphonia, laryngeal paralysis, dysphagia, and trapezium muscle hypotrophy), to the severeness of the digestive symptoms, to the precocity of the autonomic disorders, and to the rather high incidence (6 cases) of heart involvement. The electromyography showed anterior horn involvement in 3 cases. The electrocardiography showed repolarization disorders in 11 cases, left ventricular overload in 6 cases and atrioventricular block in 5 cases. The serum proteins electrophoresis showed frequent abnormalities, but no typical curve could be obtained. The barium-contrasted X-rays of the gastrointestinal tract showed no anatomical lesions, but functional abnormalities (hypo or hypermotility) were found in 14 examination. The Schilling test showed impairment of vitamin B12 absorption in 50% of the cases. However, with the concomitant administration of intrinsic factor (3 cases) there was improvement of it absorption. This proves that the gastric mucosa plays an important role in the disease malabsorption. The test with labeled-triolein showed slow absorption in 2 cases and steatorrhea in 3 (6 tests). For the confirmation of the amyloid deposits, the best histopathological procedure was nerve biopsy. In men, when the nerve biopsy was negative, testicular biopsy has shown to be a good option.

Adult↗
PubMedDate not supplied

Migraine in childhood and adolescence. A critical study of the diagnostic criteria and of the influence of age on clinical findings.

We studied 253 children aged <15 years. Phase 1 included 193 children with migraine (1.1 and 1.2) divided into two groups (<10 and > or = 10 years). We studied the relationship between age and migraine type, headache characteristics, and associated symptoms of the International Headache Society (IHS) definition. A higher frequency of migraine with aura, pulsatile quality, and unilateral location was observed in older children. In phase 2 we studied 176 children with headache (excluding migraine with aura), comparing diagnostic criteria, definition items, sensitivity, and specificity. The results showed that item B of the definition was the most frequent cause of exclusion in the 1.7 diagnostic group. Compared with Vahlquist and the IHS, the Prensky criteria were the most sensitive. Sensitivity was >70% for pain of moderate/severe intensity, duration between 2 and 48 h, isolated photophobia, isolated phonophobia, and aggravation with physical activity. Specificity was >70% for nausea, vomiting, phonophobia and photophobia, isolated photophobia, aggravation with physical activity, and isolated phonophobia. Based on three alternative definitions, each modifying one item of the IHS definition, the sensitivity and specificity of these alternative definitions were compared with the "extended" criteria (children with migraine without aura and migrainous disturbance, according to the IHS criteria, grouped together). Exclusion of headache duration increased sensitivity by 10%, compared to restrictive IHS criteria, without decreasing specificity.

Adolescent↗
PubMedDate not supplied

Stroke as the first manifestation of calcific aortic stenosis.

Heart valve calcifications are rarely recognized as a potential source for cerebral embolism. Previous studies have identified mitral, but not aortic, valve calcifications to be risk factors for stroke. Based on these studies, heart surgery is unlikely to be indicated in patients who present with a stroke and an 'incidental' aortic valve calcification. We report a case of a 46-year-old man presenting with acute onset of left-sided weakness and numbness. A previous smoking history was the only cardiovascular risk factor found. Head CT scan revealed a right middle cerebral artery territory infarct and an adjacent high-density lesion. CT angiography demonstrated the presence of calcific embolic material in the middle cerebral artery. A search for embolic sources revealed a calcific aortic stenosis (CAS). Initially placed on coumadin, the patient developed silent myocardial infarction 2 months later, presumed to be also embolic in origin from the CAS. After aortic valve replacement, the patient has been symptom-free during a 2-year follow-up. In conclusion, CT angiography may be the method of choice for detecting calcific cerebral emboli, and demonstration of a causal relationship between CAS and an embolic stroke by CT angiography may be an important adjunct in surgical decision-making.

Aortic Valve Stenosis↗
PubMedDate not supplied

Association of TP53 mutation, p53 overexpression, and p53 codon 72 polymorphism with susceptibility to apoptosis in adult patients with diffuse astrocytomas.

Clarification of TP53 alterations is important to understand the mechanisms underlying the development of diffuse astrocytomas. It has been suggested that the alleles of TP53 at codon 72 differ in their ability to induce apoptosis in human cancers. The aim of this study was to analyze the possible association of TP53 mutation, p53 overexpression, and p53 codon 72 polymorphism with susceptibility to apoptosis in adult Brazilian patients with diffuse astrocytomas. We analyzed 56 surgical specimens of diffuse astrocytomas for alterations of TP53, using polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) direct sequencing. p53 and cleaved caspase 3 protein expression were assessed by immunohistochemistry. We found TP53 mutations in 19.6% (11 out of 56) of tumors tested, with the lowest mutation rate found in the cases of glioblastomas (8.8%) (p = 0.03). Only 16.1% of tumors tested showed cleaved caspase 3-positive staining, demonstrating that apoptosis is very inhibited in these tumors. All tumors having TP53 mutation and p53 accumulation had no expression of cleaved caspase 3. Additionally, no association was observed in tumors having proline and arginine alleles and expression of cleaved caspase 3. We concluded that clarification of the TP53 alterations allows a better understanding of the mechanisms involved in the progression of diffuse astrocytomas, and the allele status at codon 72 was not associated with apoptosis in these tumors.

Adult↗
PubMedDate not supplied

[Use of transcranial Doppler in monitoring cerebral vasospasm secondary to subarachnoid hemorrhage].

UNLABELLED: Cerebral vasospasm accounts for an increased morbidity and mortality in patients with spontaneous subarachnoid hemorrhage (SAH). Its early and non invasive detection by transcranial Doppler (TCD) may contribute to a better prognosis in such cases. PURPOSE: To discuss the use of transcranial Doppler (TCD) in the detection of cerebral vasospasm secondary cerebral to spontaneous subarachnoid hemorrhage (SAH). METHODS: We analyzed the flow velocities registered by TCD in intracranial arteries in 31 patients with SAH, performed sequentially, associated with neurological examinations. All patients (except one) had intracranial aneurysms. RESULTS: Clinical vasospasm was found in 11 patients (36,6% from the total), with correspondent sonographic vasospasm present in 9 cases (82%). In 3 cases (33.3%) the flow velocity alterations preceded the clinical symptoms. Between the 20 asymptomatic patients, 15 (75%) had normal flow velocity, with evidence of sonographic vasospasm without clinical repercussion in 5 (25%). The index of false negatives in the correlation between clinical examination and TCD (symptomatic vasospasm with normal flow velocity records) was 18%. However, there was correspondence between clinical and ultrasonographic findings in 26 of the 31 patients (83.8%). The average flow velocity values in the various arteries and its interpretation for each subgroup are discussed with further details. CONCLUSION: TCD is a valuable auxiliary method in the detection of cerebral vasospasm (even pre-symptomatic) secondary to SAH, allowing a more precocious therapeutic intervention. Our results are similar to those described in the literature.

Adult↗
PubMedDate not supplied

Neurological complications of coronary arteriography.

The authors report a 46 year-old female who was submitted to a right femoral artery coronary arteriography. During the procedure she presented an upward, downward and convergence gaze paresis; an upbeating nystagmus. A NMRI showed a change in T-2 weighted signal of the left paramedian mesencephalic region. A diagnosis of stroke was made and dextran 40 was prescribed. Vertical gaze paresis progressively disappeared. Convergence paresis and nystagmus improved partially only. The possible pathophysiological basis underlying this clinical picture are: catheter-induced dislodgement of an atheromatous plaque; small thrombi formation and release from the catheter tip; catheter-induced vascular lesion with subsequent thromboembolism or dissection of the intima; cardiac arrhythmia; catheter-induced or contrast medium-induced arterial spasm; a combination of two or more of these.

Cerebrovascular Circulation↗
PubMedDate not supplied

Excessive somnolence.

Excessive somnolence can be quite a incapacitating manifestation, and is frequently neglected by physicians and patients. This article reviews the determinant factors, the evaluation and quantification of diurnal somnolence, and the description and treatment of the main causes of excessive somnolence.

Disorders of Excessive Somnolence↗
PubMedDate not supplied

Thymectomy for myasthenia gravis: evaluation of results in 282 patients.

The results of thymectomy in 282 patients with acquired and generalised myasthenia gravis are presented. The study includes patients submitted to surgical treatment in the period between 1958 and 1990. Remission or marked improvement was obtained in 70% of the patients with follow-up extending from one to 25 years. The total post-operative mortality rate was 8% dying predominantly patients with thymoma. Median sternotomy was made in 278 patients, transcervical thymectomy in two patients and thyroidectomy with concomitant thymectomy in other two. Surgical methods, operatory phases, previous treatment with prednisone and long term evolution with final results are discussed.

Adolescent↗