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W O Arruda

Publications and source records attributed to W O Arruda.

At least 19 recordsLinked to original sources
PubMed1999

Pineal metastasis as first clinical manifestation of colorectal adenocarcinoma. Case report.

Cerebral metastases from colorectal adenocarcinomas occur in 8% of the cases. Diagnosis is usually made when primary disease and widespread metastases are already known. We report the case of a patient with single metastases in the pineal region as the first clinical manifestation of a colorectal adenocarcinoma. A 48-year-old female with Parinaud's syndrome for 15 days prior her admission was evaluated in our clinic. She had no symptoms or signs of colorectal disease. MRI examination revealed an heterogeneous lesion with peritumoral gadolinium enhancement, located in the pineal region. The tumor was radically resected through an infratentorial/supracerebellar approach. Histology showed metastatic carcinoma and immunohistochemical examination showed gastrointestinal tract adenocarcinoma. Metastases to the pineal region are extremely rare and should be considered in the differential diagnosis of tumors of this region.

Adenocarcinoma↗
PubMed1999

[Migraine with aphasia. Report of a family].

We describe a Brazilian family in which one female patient and her three daughters present a clinical course compatible with migraine, preceded by language disorders (aphasia), without paresis. Several aspects related to genetics of migraine are reviewed. We conclude that further genetical studies are necessary to establish if these cases are different sources of well-known migraine subtypes as the familial hemiplegic migraine.

Adolescent↗
PubMed1998

[Neurocysticercosis. A tomographic diagnosis in neurological patients].

Neurocysticercosis (NC) is the most common parasitic disease of the central nervous system and accounts for a significant proportion of morbidity and mortality, in special epilepsy. The authors reviewed 3093 computed tomography scans out of 2554 randomized neurological patients evaluated during a one year period. Most patients (77.3%) were living in Curitiba, Paraná, Brazil. 1821 (58.9%) CT scans were normal. NC was diagnosed in 236 patients based on tomographic criteria; the sex ratio was F:M 1.6:1. 219 (92.8%) patients had the inactive form of NC: 195 (89%) had only isolated intraparenchymal calcifications, and 24 calcifications plus hydrocephalus. Active forms were observed in 14 patients: 8 with degenerating cysts, 4 with viable cysts, 1 with intraventricular cyst, and 1 with racemose form. Three patients had both forms, active (cysts) and inactive (calcifications). The most common clinical finding among patients with tomographic diagnosis of NC was headache alone (35.5%), followed by epilepsy (20.9%). There is a potential role of NC as a causal factor of epilepsy in most of our patients, but surely not in all of them. On the other hand, the finding of inactive NC (calcifications without hydrocephalus and/or meningitic reaction) in patients with headache is probably fortuitous in most cases. In fact, the occasional finding of isolated calcifications in general population is not quite rare, as it was observed in 3.3% of another series of 973 patients with head trauma submitted to CT scan and without epilepsy previous history. The presence of CT findings compatible with NC, especially calcifications, must be carefully correlated with the clinical context in each case. Only then, an unequivocal cause-effect with all its medical and epidemiological implications role can be established.

Adolescent↗
PubMed1998

Primary lateral sclerosis. A case report with SPECT study.

Primary lateral sclerosis (PLS) is a neurodegenerative disease with progressive corticospinal involvement and characterized by lower limbs spasticity followed by upper limbs involvement,rare cranial nerve involvement, typical sparing of all sensory modalities, sphincteric function and eventually mild cognitive changes. The authors report a case of PLS in a 43-year-old woman with 3 years of clinical follow-up and extensive laboratory investigation, including a SPECT study which disclosed bilateral frontal motor area hypometabolism. Several aspects about this unique disease were reviewed,including differential diagnosis with other more common neurological disorders.

Adult↗
PubMed1997

Acoustic neurinomas. Diagnosis and treatment.

We present our experience with 83 patients with acoustic neurinomas (January 1988 to November 1996); 81 patients underwent surgery and 2 patients with intracanalicular neurinomas received conservative therapy due to their advanced age (1 case) and patient's option (1 case). The surgical approach was retrosigmoid/transmeatal and the goal was total removal in one procedure with preservation of facial and cochlear nerves. Radical removal of lesion was attempted in 79 cases and it was possible in 77 patients. Subtotal tumor resection was planned in 2 cases. Facial nerve function (grades I to III, House and Brackman) was preserved in 90% and hearing in 58% of those with preoperative hearing. Three patients died due to postoperative complications. Early diagnosis of acoustic neurinomas is the most important factor in the prognosis and is one of the most important conquest of neurophysiology and modern neuroimaging. The management of these patients still present many controversial points. This article presents the diagnostic procedures used for acoustic neurinomas, the advantages and disadvantages of the different surgical approaches and the alternative management of these lesions.

Adolescent↗
PubMed1997

Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients.

Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominant spinocerebellar ataxia (SCA) caused by expansions of an unstable CAG repeat localized in the coding region of the causative genes. Another related disease, dentatorubropallidoluysian atrophy (DRPLA) is also caused by an unstable triplet repeat and can present as SCA in late onset patients. We investigated the frequency of the SCA1, SCA2, MJD/SCA3 and DRPLA mutations in 328 Brazilian patients with SCA, belonging to 90 unrelated families with various patterns of inheritance and originating in different geographic regions of Brazil. We found mutations in 35 families (39%), 32 of them with a clear autosomal dominant inheritance. The frequency of the SCA1 mutation was 3% of all patients; and 6% in the dominantly inherited SCAs. We identified the SCA2 mutation in 6% of all families and in 9% of the families with autosomal dominant inheritance. The MJD/SCA3 mutation was detected in 30% of all patients; and in the 44% of the dominantly inherited cases. We found no DRPLA mutation. In addition, we observed variability in the frequency of the different mutations according to geographic origin of the patients, which is probably related to the distinct colonization of different parts of Brazil. These results suggest that SCA may be occasionally caused by the SCA1 and SCA2 mutations in the Brazilian population, and that the MJD/SCA3 mutation is the most common cause of dominantly inherited SCA in Brazil.

Adolescent↗
PubMed1997

Comparison of MRI-guided and ventriculography-based stereotactic surgery for Parkinson's disease.

Stereotactic surgery for Parkinson's disease can be performed using different neuroimaging methods. Ventriculography has been used to locate the coordinates of the structures close to the third ventricle. Although it has several potential disadvantages related to the intraventricular injection of iodine contrast, it is considered a precise method. Computed tomography and magnetic resonance imaging have been used in some centers. In order to compare their efficacy, 50 stereotactic thalamotomies for Parkinson's disease were performed using either ventriculography (VE) (25) or magnetic resonance imaging (MRI) (25). In 14 out of 25 VE procedures, computed tomography (CT-scan) was also used and showed a significant mean difference of coordinate Y and Z. The clinical results employing either VE or MRI were similar, with 80% abolition of tremor in the VE group, and 84% in the MRI group, after a follow up period of at least 3 months. Another 12% of VE and 16% of MRI group showed significant improvement of tremor. Complication rate was 4% in both groups. MRI-guided stereotactic thalamotomy in Parkinson's disease has shown good clinical results, comparable to VE-guided stereotaxis.

Cerebral Ventriculography↗
PubMed1997

[Hereditary cerebellar ataxias: from hammer to genetics].

The hereditary ataxias comprise a complex group of neurological disorders involving the cerebellum and its connections. Several classifications based on clinical and/or pathological data have been only partially successful. Recent progress in molecular genetics has identified the genic loci of hereditary ataxias and has allowed a more precise diagnosis of distinct genetic diseases. Trinucleotide repeat expansions has been recognized as a mechanism of disease in some autosomal dominant spinocerebellar ataxias (ADCA) (SCA1 to SCA7), including Machado-Joseph disease/SCA3, probably the most common form of ADCA in South Brazil, and Friedreich ataxia (GAA expansion-chromosome 9p). Familial alpha-tocopherol deficiency (chromosome 8q) may have a Friedreich ataxia phenotype and responds to the oral supplementation with vitamin E. Familial episodic ataxias with (EA1-chromosome 12p) and without (chromosome 19p-EA2) myokimia were identified, the first one caused by point mutations in the gene encoding the KCNA1 potassium voltage-gated channel. The gene responsible for ataxia-teleangiectasia (chromosome 11q) was found to encode a putative DNA binding protein kinase (ATM), related to the cell cycle control. One to 3% of the population are heterozygotic ATM gen carry and pose a higher risk of cancer when exposed to ionizing radiation. Molecular biology has provided us with useful tools to diagnosis and genetic counseling and, hopefully, will provide us with a better understanding of the pathogenesis and eventual treatment of the several forms of hereditary ataxias.

Humans↗
PubMed1996

[Genetic aspects in multiple sclerosis: I. Twin studies].

The authors make a review and critical analysis of twin studies in multiple sclerosis (MS). The concordance rate among homozygotic twins is significantly greater than in heterozygotic twins. The average hertability in MS is about 28%; no single gene was identified as a sole risk factor for the development of the disease. MS may be considered a polygenic disease triggered by environmental factors in a genetically predisposed individual.

Diseases in Twins↗
PubMed1996

[Genetic aspects in multiple sclerosis. II: HLA system].

Review of studies about HLA antigens and multiple sclerosis (MS). The HLA system, in special class II antigens, subregions DR and DQ, is probably involved in the immunopathogenesis of MS. Haplotype DRB1*1501.DQA1*0102.DQB1*0602, corresponding to phenotype DR2.Dw2.DQ6, is positively associated with MS in several caucasoid populations. Clinical heterogeneity of MS, as well as different diagnostic criteria adopted by investigators are potential sources of confusion and may lead to discrepant results. A better standardization of clinical and laboratorial methodology, appropriate subdivision of patients with different clinical forms of MS, may allow a more accurate evaluation of the role of genetic factors in the pathogenesis of MS.

HLA Antigens↗
PubMed1996

Thoracic intraspinal Paracoccidioidomycosis. Case report.

Intramedullary lesions caused by Paracoccidioides brasiliensis have been rarely described. Its diagnosis may be challenging and surgical approach is indicated for diagnostic and therapeutic purposes. We hereby report a case with MRI and surgical findings in a 45 year-old woman with intramedullary paracoccidioidomycosis, and make a review of other cases presented in the literature.

Female↗
PubMed1995

Familial glioblastoma.

The authors describe a family with three members affected by glioblastoma. The proband patient, a 7 year-old girl, developed a rare complication, a pulmonary metastasis. Chromosomal analysis of her peripheral blood lymphocytes showed a normal karyotype (46, XX), without structural abnormalities. Cytogenetic study of the tumor cells disclosed several abnormalities: 46, XX, 7q-/46, XX, -2, 4p-, 7p-, +15/46, XX. Some aspects about genetics of glial neoplasms are discussed.

Adult↗
PubMed1995

[Actinomycotic abscess of the cerebellum: a case report].

A 38 year-old man presented fever and a clinical picture of intracranial hypertension and ataxic syndrome. A CT-scan disclosed an expanding lesion of the cerebellum. Surgical excision of the lesion was performed and pathological examination made the diagnosis of an actinomycotic abscess. The probable primary source of infection were the lungs and/or oral cavity. The postoperative course was uneventful, with complete recovery after a long period of treatment with penicillin (IV and PO). The authors review some aspects about central nervous system involvement in actinomycosis.

Actinomycosis↗
PubMed1994

[Perimesencephalic subarachnoid hemorrhage nonaneurysmatic: report of a case and literature review].

A 42 year-old man with subarachnoid hemorrhage was admitted in our Service (Hunt & Hess grade II). CT-scan disclosed predominantly perimesencephalic subarachnoid hemorrhage. Digital subtraction angiographic study did not disclose either cerebral aneurysm or any other potential site of intracranial bleeding. The evolution was uneventful. A DSA was repeated one month later and was negative. Four months later, the patient was asymptomatic. The authors review the literature and emphasize the importance in recognizing this benign clinical form of nonaneurysmatic subarachnoid hemorrhage.

Adult↗