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Biomedical subjects

A A Gabbai

Publications and source records attributed to A A Gabbai.

At least 19 recordsLinked to original sources
PubMed2006

Frequency of dystrophic muscle abnormalities in chronic progressive external ophthalmoplegia: analysis of 86 patients.

BACKGROUND: There are few reports describing the coexistence of dystrophic features with those typical of mitochondrial myopathies in muscle biopsy. A recent study suggested that dystrophic features are frequent in patients with chronic progressive external ophthalmoplegia (CPEO) with a high mutation load, but the actual frequency of these abnormalities in CPEO remains undetermined. OBJECTIVE: To review the occurrence of dystrophic abnormalities in a large series of patients with CPEO to assess the frequency of such abnormalities and to verify whether they are correlated with specific mitochondrial DNA (mtDNA) mutations. METHODS: Retrospective survey of case series (86 patients with CPEO). RESULTS: Only three cases with dystrophic abnormalities were found: two with a large scale mtDNA deletion and one with the A3251G mutation. All three patients showed predominantly proximal muscular weakness resembling limb girdle muscular dystrophy. CONCLUSIONS: Dystrophic abnormalities are rare in CPEO and are not correlated with a specific molecular defect.

Adult↗
PubMed2004

The exercise test as a monitor of disease status in hypokalaemic periodic paralysis.

OBJECTIVE: To evaluate exercise test responses in hypokalaemic periodic paralysis (HPP), to determine its value as a diagnostic tool and the factors that could affect the responses. METHODS: 22 subjects were studied from two families with HPP caused by R528H mutation, four patients with thyrotoxic periodic paralysis, 15 normal controls, and four controls with hyperthyroidism. All family members were submitted to clinical evaluation, electrophysiological exercise testing, and DNA analysis. Patients with thyrotoxic periodic paralysis had exercise tests before and after treatment of their hyperthyroidism. RESULTS: Abnormal responses to the exercise tests were obtained only in subjects with recent attacks of weakness. They were not correlated with genotype, as asymptomatic carriers were unaffected. Patients with thyrotoxic periodic paralysis showed pronounced impairment while they were hyperthyroid, but improved when they were euthyroid. One patient with HPP and chronic KCl use had an increase in amplitude potentials over approximately 20 minutes, possibly related to alteration of potassium homeostasis. CONCLUSIONS: The exercise test is a useful diagnostic test for periodic paralysis, but in the absence of recent weakness negative results must be viewed with caution. It has advantages over the DNA test in being a non-invasive functional test that can provide insights into abnormalities of muscle excitability.

DNA↗
PubMed2003

MRI of medulloblastoma in adults.

Medulloblastoma has variable appearances on MRI in both children and adults. Adults are more likely to have heterogeneous cerebellar hemisphere tumours, and this is thought to be related to the greater prevalence of desmoplastic tumours in adulthood. Few studies have addressed the MRI features of adult medulloblastoma and the specific characteristics of desmoplastic and classic tumours have not been analysed. Our aim was to analyse the imaging characteristics of desmoplastic (DM) and classic (CM) medulloblastomas in adult. We retrospectively studied preoperative MRI of six men and three women, median age 33 years, range 23-53 years, with pathologically proved medulloblastomas. There were six (67%) with DM. The tumour was in the cerebellar hemisphere in eight patients (89%), including the three with CM, one of which was bilateral. All tumours were heterogeneous, giving predominantly low or isointense signal on T1- and isointense signal on T2-weighted images. Cystic or necrotic areas in all patients were particularly visible on T2-weighted images. Contrast enhancement was absent in one DM and varied from slight to intense in eight (three CM), homogeneous in one DM and patchy in seven. All tumours extended to the surface of the cerebellum and two had well-defined margins. MRI does not allow a clear distinction between DM and CM in adults.

Adult↗
PubMed2002

Fukuyama-type congenital muscular dystrophy: a case report in the Japanese population living in Brazil.

INTRODUCTION: We present herein clinical, histological and magnetic resonance imaging (MRI) findings in a patient with Fukuyama-type congenital muscular dystrophy (FCMD). He is the first case report in the Japanese population living in Brazil. CASE REPORT: The child presented with neonatal hypotonia, delayed motor abilities and speech, seizures, cerebral and cerebellar gyrus abnormalities with signal intensity change in the white matter by MRI, high serum level of creatinephosphokinase (CK), and dystrophic skeletal muscle with normal merosin, alpha-sarcoglycan and dystrophin expression. The fukutin gene study showed one founder 3-kb retrotransposal insertion in the 3'-non-coding region, and in the other allele no mutation was detected after screening all exons and flanking introns by sequencing. DISCUSSION: This case report emphasizes the importance to consider FCMD in Japanese people living in other countries.

Brain↗
PubMed2001

The prevalence of multiple sclerosis in the city of São Paulo, Brazil, 1997.

July 1, 1997 was stipulated as the day for estimating the prevalence of multiple sclerosis within the city of São Paulo. The patients were identified via various sources, including associated universities and magnetic resonance services of the city of São Paulo. The area covered by the study has a population of 9,380,000, mainly white and of European origin, with a large number of immigrants from Spain and Portugal. The patients were classified in accordance with the criteria of Poser et al. (1983), and only those with defined multiple sclerosis were registered. The study gave a prevalence of 15.0/10(5) inhabitants, or three times the value obtained in a similar study in 1990. This increase reveals the larger number of cases encompassed by the study, and is attributed to the use of more detailed recording methods, improvements in diagnosis, and better conditions for treatment.

Adult↗
PubMed2001

Is the number of microembolic signals related to neurologic outcome in coronary bypass surgery?

Coronary artery bypass surgery (CABG) without cardiopulmonary bypass (CPB) may potentially reduce the number of microembolic signals (MES) associated with aortic manipulation or generated by the pump circuit, resulting in a better neurologic outcome after surgery. Our aim was to compare the frequency of MES and neurologic complications in CABG with and without CPB. Twenty patients eligible to routine CABG without CPB were randomized to surgery with CPB and without CPB and continuously monitored by transcranial Doppler. Neurologic examination was performed in all patients before and after surgery. The two groups were similar with respect to demographics, risk factors, grade of aortic atheromatous disease and number of grafts. The frequency of MES in the nonCPB group was considerably lower than in CPB patients, however, we did not observe any change in the neurologic examination during the early postoperative period. Neurologic complications after CABG may be related to the size and composition of MES rather than to their absolute numbers. A large prospective multicentric randomized trial may help to elucidate this complex issue.

Aortic Diseases↗
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

[Cerebral venous thrombosis and homocystinuria: case report].

Homocystinuria presenting as cerebral venous thrombosis is not usual. We report on a 13-year-old boy who was admitted to the hospital due to severe headache, nausea, vomiting and fever (38 degrees C). The patient was Marfan like and presented left hemiparesis and meningeal irritation sings. He was mentally retarded, had severe myopia, and had right lens dislocation one month before. Cranial CT scan was suggestive of cerebral venous infarct. MRI and magnetic resonance angiography showed venous infarcts more prominent in the right thalamic projection with hemorrhagic transformation and multiple foci of cortical (occipital and parietal bilaterally) deep parietal and left capsular bleeding, secondary of thrombosis of the transverse and sigmoid venous sinuses. High levels of homocysteine were detected in the blood and urine. Homocystinuria is an autosomal recessive inborn error of methionine metabolism caused by cystathionine-beta-synthase defect in most cases. We discuss the clinical and radiological findings in this patient, analyzing the pathophysiology of the thrombotic events related to homocystinuria.

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

[Multiple gliomas. Illustrative cases of 4 different presentations].

Multiple gliomas are uncommon and may be classified according to: a) the time of presentation in early (at diagnosis) or late (during treatment); b) the characteristics of computed tomography or magnetic resonance imaging (CT/MRI) in multifocal (with evidence of spread) and multicentric (without evidence of spread). From 212 patients with histopathologic diagnosis of glioma evaluated from March/90 to September/99, 15 (7%) had multiple lesions. We describe 4 patients: early multicentric, late multicentric, early multifocal and late multifocal, with emphasis on characteristics of CT/MRI and possible differential diagnosis. The differential diagnosis of multiple lesions in the central nervous system includes mainly infectious/inflammatory diseases and metastasis, however multiple gliomas should always be considered, even in patients with known systemic cancer, as described by others. Considering that CT/MRI features are not definite, the diagnosis should always be confirmed by histopathologic examination.

Adult↗
PubMed2000

[Sport as integration factor of the physically handicapped in our society].

The objective of this study was to make use of sports as a rehabilitation method, as well as to assess the physical, psychological, and social aspects of those present some physical handicap, particularly those who have some kind of chronic disease and are no longer taking part in any rehabilitation program. Thirty handicapped people were evaluated: fifteen started with basketball and fifteen with swimming, according either to the specific preference of each one of them or to the degree and kind of physical impairment. They were submmited to the following evaluations: clinical examination, physiotherapy assessment, social interview and use of the Rivermead Social Scale, functional classification of the sport, use of the Barthel and Rivermead Functional Scales, and the psychological profile test (POMS). After two years, no relevant change in the moving evolution of the athletes were reported. Concerning the POMS psychological test, both basketball and swimming groups presented with high vigor and low depression levels. Considering the social aspects, both groups presented substantial improvement, specially regarding their relationship to one person or more people and also in the everyday activities (be it social, leisure, or domestic), thus leading them to better social integration. This essay shows that sport can bring people who are physically impaired a better social integration and physical conditions.

Adolescent↗
PubMed1999

Imaging Trypanosoma cruzi within tissues from chagasic patients using confocal microscopy with monoclonal antibodies.

Confocal fluorescence microscopy combined with differential interference contrast imaging of tissues from chagasic patients enabled the unequivocal identification of the parasite Trypanosoma cruzi. Using different monoclonal antibodies that indicate the parasite form and replication stage in conjunction with DNA labelling, specimens derived from distinct clinical forms of the disease were examined. Intracellular amastigote forms of the parasite were clearly detected in heart, brain, skin, lung, and kidney. Dividing amastigotes as well as trypomastigote forms were recognized in samples obtained from patients undergoing either acute-phase or some form of reactivation caused by immunosuppression.

Adult↗
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

Moyamoya disease. Report of three cases in Brazilian patients.

Moyamoya disease (MMD) is a chronic occlusive cerebrovascular disease of unknown etiology reported mainly in the Japanese. Most cases occur in children. The disease is rare in non-Oriental adults manifesting itself mostly as intracerebral hemorrhages. We describe MMD in 2 non-Oriental young adults and one adolescent that developed cerebral infarctions. The adults were medicated with aspirin and no medication was given to the adolescent. All patients did not deteriorate in a follow-up period from 1 to 4 years. Although rare, MMD is an important cause of stroke in young individuals and may well be underreported: only 18 patients have been reported till 1997 in Brazil. Neurologists should include MMD in differential diagnosis of ischemic and hemorrhagic strokes in young adults.

Adolescent↗
PubMed1999

[The involvement of the brachial plexus in cardiac surgery with median sternotomy for the revascularization of the myocardium: clinical evaluation].

To evaluate the involvement of brachial plexus in cardiac surgery with median sternotomy for the revascularization of the myocardium 113 patients (87 men and 26 women) were clinically examined in the preoperative and between the fifth and eight post-operative days. The internal thoracic artery was used in 65 of the 113 patients. The electroneuromyography was not effected in any of the patients. A lesion of the brachial plexus was found in three patients though the internal thoracic artery was used in only one patient. We believe that factors such as posture of the patient, hypothermia, thoracic braces and use of the internal thoracic artery are relevant in the lesions. Hence one must be attentive to all the factors mentioned above so as to avoid or minimize the lesions.

Aged↗