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Biomedical subjects

A Vilarinho

Publications and source records attributed to A Vilarinho.

12 recordsLinked to original sources
PubMed2006

Temporal giant cell reparative granuloma: a reappraisal of pathology and imaging features.

We report a case of large temporal giant cell reparative granuloma in a 72-year-old man. MR imaging depicted a right temporal expansile multiloculated lesion, with hyper- and hypointense signal areas on T2-weighted images, heterogeneously enhancing after gadolinium administration. Cortical thinning and bone remodeling of the temporal squamous portion were better seen on CT. The patient underwent surgery, and the diagnosis was achieved by the correlation of imaging, histologic, and laboratory findings.

Aged↗
PubMed2001

[Occipital condyle fracture without neurological deficit: apropos of a case].

Fracture of the occipital condyles is a rare pathology that can be easily undiagnosed. The bibliographic references on this theme are scarce and the majority are related to patients with palsy of the low cranial nerves and/or a high cervical subluxation with abnormal posture of the neck. The authors describe one case of the occipital condyle fracture without clinical manifestations other than persistent pain, and without alterations of the high cervical region. The patient was submitted to conservative treatment by means of a cervical collar due to the existence of minor symptoms. The clinical criteria that should lead to the study of this pathology are discussed, just as the use of a computerized tomography bone window as the fundamental instrument in its diagnosis and classification.

Accidents, Traffic↗
PubMed2000

Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency.

UNLABELLED: The authors report a case of hydrops fetalis due to severe pyruvate kinase deficiency, the most unusual clinical manifestation of this disease. CONCLUSION: Pyruvate kinase deficiency, as other erythrocyte enzymopathies, must be considered in the differential diagnosis of non-immune hydrops fetalis. This has important implications for clinical investigations, therapy and genetic counselling.

Anemia, Hemolytic, Congenital Nonspherocytic↗
PubMed1997

Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function.

A newborn male with the characteristic phenotype of classic rhizomelic chondrodysplasia punctata (RCDP) and with the usual and severe radiographic skeletal abnormalities is described. The parents were young, healthy, and not consanguineous; the mother had not used licit or illicit drugs, alcohol, or tobacco during pregnancy and had not been exposed to radiation or teratogenic chemicals. The clinical phenotype led us to study peroxisomal function. Plasmalogen content in erythrocytes, membrane, and fibroblasts; dihydroxyacetone phosphate acyltransferase (DHAP-AT), alkyldehydroxyaceton phosphate synthetase (a gift from Professor Henk van der Boch, Utrech) in fibroblasts; and phytanic and pristanic acids in plasma showed normal values. Immunocytofluorescence study with antibodies against peroxisomal membrane showed normal organelles. We found no reference in the literature of a case of RCDP with normal peroxisomal functions, but non-CDP has been described with peroxisomal dysfunction. This phenotype (RCDP) may be due to other metabolic error.

Acyltransferases↗
PubMed1992

Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal.

RFLPs of 36 normal and 41 mutant alleles at the phenylalanine hydroxylase locus were determined in 31 Portuguese kindreds. A total of 14 haplotypes including 10 normal and 7 mutant alleles were observed. Almost 75% of all mutant alleles were confined within only two haplotypes, namely haplotype 9 (17.1%) and haplotype 1 (56.1%). This frequency of mutant haplotype 1 in Portugal is, to our knowledge, the highest for this mutant haplotype in all studies reported to date. Other mutant haplotypes were either rare (haplotype 2, 9.7%) or totally absent (haplotype 3, 0%). Only 24.5% of all mutant alleles were found to consistently carry identified mutations, particularly R261Q (9.8%), R252W (3.3%), R408W (1.6%) and delta I94 (3.3%). A new mutation, L249F, located in the seventh exon of the gene, accounted for 6.5% of all mutant alleles in our series. Interestingly, this mutant genotype was consistently associated with mutant haplotype 1 (P less than 0.01), as also observed for the R261Q mutation. It appears, therefore, that mutant haplotype 1 is genotypically heterogeneous in Portugal and that more than two mutations account for its prevalence in this country.

Alleles↗
PubMed1991

[Endomyocardial fibrosis. Presentation of a clinical case].

The authors report a case of right ventricle endomyocardial fibrosis in a 6-year-old boy. Particular attention is paid to the discussion of the new methods for diagnosing and treating these conditions, namely echocardiography, endomyocardial biopsy and surgery.

Child↗
PubMedDate not supplied

[How our pediatric services work].

The results of a questionnaire sent by the College of Pediatrics of the Portuguese Doctors Association (Ordem dos Médicos) to the pediatric departments all over the country are presented. From the answers of fifty-one services, physical conditions, equipment, human resources, assistancial and scientific activities developed are characterized.

Child↗