Browsing by Issue Date, starting with "2002"
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- A disfunção sexual na mulherPublication . Carvalheira, AA; Allen-Gomes, F
- Early cyclosporine a withdrawal in kidney transplant recipients under a sirolimus-based immunosuppressive regimen: pathological study of graft biopsies at 1-year posttransplantPublication . Ruiz, JC; Campistol, JM; Mota, A; Prats, D; Gutiérrez, A; Castro, A; Pinto, JR
- Tiroidites agudasPublication . Paiva, S; Bastos, M; Gomes, L; Durão, A; Moreira, A; Barros, L; Rodrigues, D; Ruas, L; Ribeiro, C; Rodrigues, F; Paiva, I; Fagulha, A; Carrilho, F; Geraldes, E; Carvalheiro, M; Ruas, AWe review the pathophysiology, clinical features and therapy of acute thyroiditis. Four cases are reported stressing the role of fine needle aspiration for the diagnosis of this clinical entity.
- Retinal thickness in eyes with mild nonproliferative retinopathy in patients with type 2 diabetes mellitus: comparison of measurements obtained by retinal thickness analysis and optical coherence tomographyPublication . Pires, I; Bernardes, RC; Lobo, CL; Soares, MA; Cunha-Vaz, JGOBJECTIVE: To compare measurements of retinal thickness in eyes with mild nonproliferative retinopathy in patients with type 2 diabetes mellitus using 2 different techniques: the retinal thickness analyzer (RTA) and optical coherence tomography (OCT). METHODS: Twenty-eight eyes from 28 patients with type 2 diabetes mellitus and mild nonproliferative retinopathy were classified according to the Wisconsin grading system by 7-field stereoscopic fundus photography. Ten eyes were classified as level 10 (absence of visible lesions) and 18 as level 20 or 35 (minimal retinopathy). All eyes were examined by the RTA and OCT. Healthy populations were used to establish reference maps for the RTA (n = 14; mean age, 48 years; age range, 42-55 years) and OCT (n = 10; mean age, 56 years; age range, 43-68 years). Reference maps were computed using the means + 2 SDs of the values obtained for each location. Increases in thickness were computed as a percentage of increase over these reference maps. RESULTS: The RTA detected increases in thickness in 1 or more locations in 24 of the 28 diabetic eyes examined, whereas OCT detected increases in only 3 eyes. The percentages of increase detected by the RTA ranged from 0.3% to 73.5%, whereas OCT detected percentages of increase of 0.3% to 4.8%. CONCLUSION: Optical coherence tomography is less sensitive than the RTA in detecting localized increases in retinal thickness in the initial stages of diabetic retinal disease.
- Eritema induratum: um caso clínicoPublication . Devesa, N; Carrola, P; Lourenço, A; Alexandrino, MB; Alves-Moura, JJ
- Cancer du col de l´utérus: classification et explorations préthérapeutiquesPublication . Oliveira, CF; Mota, FCet article décrit dans ses grandes lignes la classification du cancer du col utérin. Il met l'accent sur l'importance d'un examen clinique pratiqué sous anesthésie et analyse les explorations complémentaires et examens annexes acceptés pour le bilan d'extension du cancer. Les techniques optionnelles susceptibles d'améliorer la classification clinique sont brièvement présentées. Les auteurs soulignent que déterminer le stade d'un cancer du col ne limite en rien les stratégies thérapeutiques disponibles, qui doivent être adaptées à la maladie sur une base individuelle.
- Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locusPublication . Silveira, I; Miranda, C; Guimarães, L; Moreira, MC; Alonso, I; Mendonça, P; Ferro, A; Pinto-Basto, J; Coelho, J; Ferreirinha, F; Poirier, J; Vale, J; Januário, C; Barbot, C; Tuna, A; Barros, JBACKGROUND: Ten neurodegenerative disorders characterized by spinocerebellar ataxia (SCA) are known to be caused by trinucleotide repeat (TNR) expansions. However, in some instances the molecular diagnosis is considered indeterminate because of the overlap between normal and affected allele ranges. In addition, the mechanism that generates expanded alleles is not completely understood. OBJECTIVE: To examine the clinical and molecular characteristics of a large group of Portuguese and Brazilian families with ataxia to improve knowledge of the molecular diagnosis of SCA. PATIENTS AND METHODS: We have (1) assessed repeat sizes at all known TNR loci implicated in SCA; (2) determined frequency distributions of normal alleles and expansions; and (3) looked at genotype-phenotype correlations in 202 unrelated Portuguese and Brazilian patients with SCA. Molecular analysis of TNR expansions was performed using polymerase chain reaction amplification. RESULTS: Patients from 110 unrelated families with SCA showed TNR expansions at 1 of the loci studied. Dominantly transmitted cases had (CAG)(n) expansions at the Machado-Joseph disease gene (MJD1) (63%), at SCA2 (3%), the gene for dentatorubropallidoluysian atrophy (DRPLA) (2%), SCA6 (1%), or SCA7 (1%) loci, or (CTG)(n) expansions at the SCA8 (2%) gene, whereas (GAA)(n) expansions in the Freidreich ataxia gene (FRDA) were found in 64% of families with recessive ataxia. Isolated patients also had TNR expansions at the MJD1 (6%), SCA8 (6%), or FRDA (8%) genes; in addition, an expanded allele at the TATA-binding protein gene (TBP), with 43 CAGs, was present in a patient with ataxia and mental deterioration. Associations between frequencies of SCA2 and SCA6 and a frequency of large normal alleles were found in Portuguese and Brazilian individuals, respectively. Interestingly, no association between the frequencies of DRPLA and large normal alleles was found in the Portuguese group. CONCLUSIONS: Our results show that (1) a significant number of isolated cases of ataxia are due to TNR expansions; (2) expanded DRPLA alleles in Portuguese families may have evolved from an ancestral haplotype; and (3) small (CAG)(n) expansions at the TBP gene may cause SCA17.
- Artropatia dos joelhos como manifestação inicial de neoplasia pulmonarPublication . Inês, L; Santos, MJ; Silva, C; Braña, A; Nour, D; Reis, P; Malcata, AB; Porto, AApresentamos o caso de uma doente de 46 anos que recorreu ao serviço de urgência por dor e tumefacção dos joelhos com 3 meses de evolução. Na subsequente observação em Reumatologia identificou--se a presença de baqueteamento digital nas mãos e pés (com cerca de 1 ano de evolução) e edema dos membros inferiores. As radiografias dos ossos longos demonstraram a presença de periostose. A investigação de causas de osteoartropatia hipertrófica secundária revelou a existência de uma neoplasia pulmonar volumosa, que não apresentou no exame clínico quaisquer manifestações respiratórias.
- Analysis of human spermatozoa by fluorescence in situ hybridization with preservation of the head morphology is possible by avoiding a decondensation treatmentPublication . Almeida-Santos, T; Dias, C; Brito, R; Henriques, P; Almeida-Santos, APURPOSE: Development of a hybridization technique for spermatozoa allowing the preservation of the head morphology. METHODS: FISH analysis of fixed semen samples from oligoasthenoteratozoospermia (OAT) patients with a normal somatic karyotype attending the Cytogenetics and the IVF Laboratories of a University hospital for semen analysis. In situ hybridization with centromeric probes for chromosomes X, Y, and 18 and locus specific probe for chromosome 21. RESULTS: More than 95% of the sperm heads showed clear hybridization signals and a conserved morphology including the visualization of the tail. Few cells with splitted signals were not considered. CONCLUSIONS: This is the first description of a simple and fast hybridization protocol for spermatozoa without a decondensation step, allowing preservation of the morphology of the sperm head that is particularly useful to correlate abnormal spermatozoa with specific chromosome aneuploidies. With this technique we were able to avoid troubles in interpretation of FISH spots that does not depend on the quality of nuclear decondensation, as it is the case in the previously described methods. Our goal was to demonstrate the efficiency of the method without loosing sperm head morphology. Further studies are needed to correlate the aneuploidy rates for specific chromosomes with sperm morphology.
- Impacto do Carvedilol Sobre O Dano Mitocondrial Induzido Por Hipoxantina/xantina Oxidase: Que Papel Na Isquemia e Reperfusão do Miocárdio?Publication . Oliveira, PJ; Rolo, AP; Monteiro, P; Gonçalves, L; Palmeira, CM; Moreno, AJOBJECTIVES: The cardioprotective effects of carvedilol (CV) may be explained in part by interactions with heart mitochondria. The objective of this work was to study the protection afforded by CV against oxidative stress induced in isolated heart mitochondria by hypoxanthine and xanthine oxidase (HX/XO), a well-known source of reactive oxygen species (ROS) in the cardiovascular system. METHODS: Mitochondria were isolated from Wistar rat hearts (n = 8) and incubated with HX/XO in the presence and in the absence of calcium. Several methods were used to assess the protection afforded by CV: evaluation of mitochondrial volume changes (by measuring changes in the optical density of the mitochondrial suspension), calcium uptake and release (with a fluorescent probe, Calcium Green 5-N) and mitochondrial respiration (with a Clark-type oxygen electrode). RESULTS: CV decreased mitochondrial damage associated with ROS production by HX and XO, as verified by the reduction of mitochondrial swelling and increase in mitochondrial calcium uptake. In the presence of HX and XO, CV also ameliorated mitochondrial respiration in the active phosphorylation state and prevented decrease in the respiratory control ratio (p < 0.05) and in mitochondrial phosphorylative efficiency (p < 0.001). CONCLUSIONS: The data indicate that CV partly protected heart mitochondria from oxidative damage induced by HX and XO, which may be useful during myocardial ischemia and reperfusion. It is also suggested that mitochondria may be a priority target for the protective action of some compounds.