Browsing by Issue Date, starting with "2002"
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- Chronic eosinophilic leukaemia presenting with erythroderma, mild eosinophilia and hyper‐IgE: clinical, immunological and cytogenetic features and therapeutic approach. A case report.Publication . GRANJO, E.; LIMA, M.; LOPES, J.M.; DORIA, S.; ORFAO, A.; YING, S.; BARATA, L.T.; MIRANDA, M.; CROSS, N.C.; BAIN, B.J.Acta Haematol. 2002;107(2):108-12. Chronic eosinophilic leukaemia presenting with erythroderma, mild eosinophilia and hyper-IgE: clinical, immunological and cytogenetic features and therapeutic approach. A case report. Granjo E, Lima M, Lopes JM, Dória S, Orfão A, Ying S, Barata LT, Miranda M, Cross NC, Bain BJ. Department of Clinical Haematology, Hospital Geral de São João, Porto, Portugal. elisagranjo@netc.pt Abstract A 23-year-old, white male metallurgist presented with pruritic erythematous maculo-papules over the trunk and upper limbs and 6 months later developed erythroderma, eosinophilia and multi-organ dysfunction. A diagnosis of chronic eosinophilic leukaemia was made on the basis of myeloproliferative involvement of both peripheral blood and bone marrow, associated with eosinophilic differentiation and a t(5;12)(q33;p13) translocation. The initial therapeutic approach was interferon alfa-2b plus cytosine arabinoside, for 13 months, followed by hydroxyurea plus vincristine. There was improvement of skin lesions, disappearance of eosinophilia and decrease of serum immunoglobulin E, towards normal values. Copyright 2002 S. Karger AG, Basel PMID: 11919392 [PubMed - indexed for MEDLINE]
- Abnormal NK cell lymphocytosis detected after splenectomy: association with repeated infections, relapsing neutropenia, and persistent polyclonal B-cell proliferationPublication . Granjo, E; Lima, M; Fraga, M; Santos, F; Magalhães, C; Queirós, ML; Moreira, I; Rocha, S; Silva, AS; Rebelo, I; Quintanilha, A; Ribeiro, ML; Candeias, J; Órfão, AAbnormal NK cell lymphocytosis detected after splenectomy: association with repeated infections, relapsing neutropenia, and persistent polyclonal B-cell proliferation. Granjo E, Lima M, Fraga M, Santos F, Magalhães C, Queirós ML, Moreira I, Rocha S, Silva AS, Rebelo I, Quintanilha A, Ribeiro ML, Candeias J, Orfão A. Department of Hematology, Hospital S. João, Porto, Portugal. npp46740@mail.telepac.pt Abstract We report the case of a boy with hereditary spherocytosis who presented with mild microcytic hypochromic anemia and recurrent leg ulcers that had been present since childhood. Chronic natural killer (NK) cell and B-cell lymphocytosis was detected 1 year after therapeutic splenectomy during investigation of recurrent episodes of neutropenia and persistent lymphocytosis. NK cells proved to be abnormal at immunophenotyping studies, and B-cells were polyclonal and displayed a normal immunophenotype. Genotypic analysis of T-cell receptor (TCR)-beta and TCR-gamma genes showed a germ-line pattern. The clinical course of this patient was characterized by multiple pulmonary infections and amygdalitis. We discuss the potential roles of persistent immune stimulation due to chronic hemolysis and severe leg ulcers and of splenectomy in the origin of NK cell lymphocytosis and the relationship between NK cells and recurrent infections, relapsing neutropenia, and polyclonal B-cell response.
- Tiagabine add‐on for drug‐resistant partial epilepsyPublication . PEREIRA, J.; MARSON, A.G.; HUTTON, J.L.Cochrane Database Syst Rev. 2002;(3):CD001908. Tiagabine add-on for drug-resistant partial epilepsy. Pereira J, Marson AG, Hutton JL. Servico de Neurologia, Hospital de Santo Antonio, Largo Prof. Abel Salazar, 4099-001 Porto, Portugal. joaomccpereira@hotmail.com Abstract BACKGROUND: Epilepsy is a common neurological condition, affecting almost 0.5 to 1 per cent of the population. Nearly 30 per cent of people with epilepsy are resistant to currently available drugs. Tiagabine is one of the newer antiepileptic drugs and its effects as an adjunct (add-on) to standard drugs is assessed in this review. OBJECTIVES: To evaluate the effects of add-on treatment with tiagabine upon seizures, side effects, cognition and quality of life for people with drug-resistant localization related seizures. SEARCH STRATEGY: We searched the Cochrane Epilepsy Group trials register (28 March 2002), the Cochrane Controlled Trials Register (Cochrane Library Issue 1, 2002), MEDLINE (1966 to November 2001). In addition, we contacted Sanofi~Synthelabo (makers of tiagabine) and experts in the field to seek any unpublished or ongoing studies. SELECTION CRITERIA: Randomized placebo controlled add-on trials of people of any age with localization related seizures, in which an adequate method of concealment of randomization was used. The studies could be double, single or unblinded and be of parallel or crossover design. They had to have a minimum treatment period of eight weeks. DATA COLLECTION AND ANALYSIS: Two reviewers independently selected trials for inclusion and extracted data. Any disagreements were resolved by discussion. Outcomes investigated included 50 per cent or greater reduction in seizure frequency; treatment withdrawal; side effects; effects on cognition and quality of life. The primary analyses were by intention-to-treat. Worst case and best case analyses were also calculated for seizure outcomes. Dose response was evaluated in regression models. MAIN RESULTS: Three parallel group and two crossover group trials were included. The overall relative risk (RR) for a 50 per cent or greater reduction in seizure frequency (tiagabine versus placebo) was 3.16(95% confidence interval 1.97 to 5.07). Due to differences in response rates among trials, regression models were unable to provide reliable estimates of responses to individual doses. The RR for treatment withdrawal was 1.81(95% confidence interval 1.25 to 2.62). The 99% confidence interval for the following side effects: dizziness; fatigue; nervousness and tremor did not include unity, indicating that they are significantly associated with tiagabine. For cognitive and quality of life outcomes the limited data available suggested that there were no significant effects on cognition and mood and adjustment. REVIEWER'S CONCLUSIONS: Tiagabine reduces seizures frequency but is associated with some side effects when used as an add-on for people with drug-resistant localization related seizures. PMID: 12137637 [PubMed - indexed for MEDLINE] Publication Types, MeSH Terms, SubstancesPublication Types: Review MeSH Terms: Anticonvulsants/adverse effects Anticonvulsants/therapeutic use* Drug Resistance Epilepsies, Partial/drug therapy* Humans Nipecotic Acids/adverse effects Nipecotic Acids/therapeutic use* Substances: Anticonvulsants Nipecotic Acids tiagabine LinkOut - more resources
- Leucoencefalitis aguda hemorrágica de Weston Hurst. Estudio neuropatológico de un casoPublication . Fontoura, P.; Mendes, A.; Correia, M.; Melo-Pires, M.Summary. Introduction. Acute hemorrhagic leukoencephalitis (AHL), or Hurst disease is a rare, usually fatal, disease, probably due to an autoimmune cross reaction against myelin antigens present in the central nervous system, and which forms a spectrum of postinfeccious demyelinating diseases with acute disseminated encephalomyelitis. Case report. The patient was a 21 year old female who presented with an acute encephalopathy and generalized seizures following a 15 day febrile syndrome attributed to amygdalitis; a laboratory work-up, including CSF, was non-diagnostic, and a brain CT scan revealed diffuse cerebral edema. After 12 days the patient died from nosocomial pneumonia and multi-organ failure; neuropathological examination of the brain confirmed the diagnosis of Hurst acute hemorrhagic leukoencephalitis, with a weak perilesional inflammatory reaction, unlike the usual picture in AHL. Discussion. AHL should be a part of the differential diagnosis of acute encephalopathic diseases, particularly if preceded by systemic infections. The atypical laboratory findings, and the impossibilty of performing a brain MRI were obstacles to the diagnosis in this case. The relative paucity of the perivascular infiltrate is an atypical finding, and could be due to apoptotic clearance of the inflammatory cells, as has been described in other autoimmune demyelinating diseases.
- Advances in the genotyping of thrombosis genetic risk factors: clinical and laboratory implications.Publication . Cabeda, J.; Pereira, M.; Oliveira, J.; Estevinho, A.; Pereira, I.; Morais, S.; Justiça, B.; Campos, M.Since FV-Leiden polymorphism was first described in 1994, a growing number of polymorphic loci have been identified in association with increased genetic risk for thrombophilia. Often however, these risk factors have been studied in isolation of the remaining known phenotype linked polymorphisms. This fact has, at least in part, been justified by the laborious techniques traditionally used in the genotyping studies, as well as its relatively high costs. Another major problem concerning these studies has been the non-negligible incidence of dubious genotypes, resulting from the manual, labour intensive techniques applied, and their sometimes difficult to read output's. These difficulties have also hampered the widespread use of genotyping data in the clinical assessment of the genetic risk levels both in patients and their relatives, leaving some clinicians less than convinced about its clinical usefulness. Recently however, the introduction of new genetic techniques in the clinical genetics laboratory has started to change this picture. Most notably, the advent of Real-time-PCR has brought the possibility of genotyping patients and controls at a large scale, with increased specificity, automation and speed. Moreover, the use of these techniques in the clinical genetics setting has not only increased the quality of the results, but most importantly has also increased our capability of answering questions at a deeper level. Among the new questions that can now be answered without increased costs and uncertainty is the study of the association of genetic risk factors in thrombophilia. Our results show that indeed even common polymorphic loci may increase our ability to further discriminate the genetic thrombosis risk of individual patients and relatives. It must however be noted that the innovation level in the clinical genetics lab is just starting to grow. In fact we haven't even started to experience the advantages brought about by the genome program, and its massive identification of SNP's. The technology to test these is also presently being refined, and is expected to go from research to the clinical lab in the near future. Only then, can we expect to define with high certainty the combined genetic risks for such complex pathologies as the thrombophilias.
- Duración y calidad de la analgesia postoperatoria después del bloqueo del plexo braquial para cirugía del hombro: ropivacaína 0,5% frente a ropivacaína 0,5% con clonidinaPublication . Esteves, S.; Sa, P.; Figueiredo, D.; Souto, A.Resumen OBJETIVOS: Algunos estudios han demostrado que la duración de los bloqueos nerviosos realizados con anestésicos locales puede ser prolongada con clonidina. En este estudio evaluamos la duración y la calidad de la analgesia proporcionada por el bloqueo del plexo braquial por vía interescalénica para cirugía del hombro, comparando la ropivacaína 0,5% con la ropivacaína 0,5% asociada a clonidina. PACIENTES Y MÉTODOS: Treinta pacientes fueron distribuidos en dos grupos en un estudio doble ciego. Grupo A - bloqueo realizado con ropivacaína 0,5%, 40 ml, y grupo B - ropivacaína 0,5%, 40 ml con clonidina (40 μg). Se procedió a la anestesia general con la administración de propofol e introducción de la mascarilla laríngea, siendo los pacientes mantenidos en ventilación espontánea con propofol en perfusión continua. Después de la estimulación nerviosa del plexo braquial fue administrado el (los) fármaco(s) seleccionado(s). El paciente fue instruido para recordar la hora de la reversión del bloqueo motor y sensitivo, y la analgesia postoperatoria fue evaluada a través de la escala visual analógica (EVA) a las 2, 4, 6, 8 y 24 horas. RESULTADOS: El tiempo medio de reversión del bloqueo sensitivo y motor y la evaluación del grado de dolor (EVA 0-10) a las 4, 6, 8 y 24 horas, no mostró diferencias estadísticamente significativas. CONCLUSIONES: La asociación de 40 μg de clonidina a 200 mg de ropivacaína 0,5% no prolonga el bloqueo sensitivo y motor y no mejora la calidad de la analgesia en el postoperatorio inmediato.
- Peritoneal rest may successfully recoverultrafiltration in patients who develop peritoneal hyperpermeability with time on continuous ambulatory peritoneal dialysisPublication . Rodrigues, A.; Cabrita, A.; Maia, P.; Guimarães, S.Temporary transfer to hemodialysis, as a peritoneal rest, may be a rescue therapy to recover ultrafiltration (UF) in patients who develop peritoneal hyperpermeability as a complication of continuous ambulatory peritoneal dialysis (CAPD). However, peritoneal sclerosis has been reported after peritoneal pause. Since the beginning of our CAPD program in 1985, 12°elective peritoneal pauses have been performed in 11°patients who developed type°I ultrafiltration failure (D/P240 creatinine: 0.88°± 0.09) after 42°± 14°months on CAPD. Eight patients recovered UF and remained on CAPD with standard solutions for 10°± 9°months more (minimum: 5°months; maximum: 29°months). Only 3 of those patients were later switched to hemodialysis because of recurring UF failure. One patient remains on CAPD (62°months of follow-up). Four patients failed to respond and were permanently transferred to hemodialysis, without signs of developing encapsulating peritoneal sclerosis. The failed pauses were performed later after the detection of UF failure than were the successful ones (483°± 574°days vs. 54°± 52°days). In our study, 8 of 12 peritoneal pauses (66.6%) successfully treated type°I UF failure and prolonged CAPD retention. If a pause is initiated soon after diagnosis of UF failure, results may improve further. We urge prospective studies to better determine the best and timely therapeutic approach in patients with loss of ultrafiltration.
- Other indications for surfactant].Publication . PROENÇA FERNANDES, E.; CARVALHO, C.; SILVA, A.; FERREIRA, P.; ALEGRIA, A.; LOPES, L.; AREIAS, M.A.An Esp Pediatr. 2002 Jan;56(1):45-8. [Other indications for surfactant] [Article in Spanish] Proença Fernandes E, Carvalho C, Silva A, Ferreira P, Alegria A, Lopes L, Areias MA. Unidades de Cuidados Intensivos Neonatales y Pediátricos, Hospital Maria Pia, Spain. Abstract OBJECTIVE: The introduction of surfactant replacement therapy in the management of respiratory distress syndrome in the premature infant was a remarkable advance in neonatal intensive care. In the last few years, recognition of the role played by surfactant inactivation in the pathogenesis of other respiratory diseases of the newborn has justified new therapeutic applications. The aim of this study was to evaluate the efficacy of treatment with natural exogenous surfactant in situations with secondary surfactant deficiency. METHODS: We performed a retrospective analysis of the evolution of 15 newborn infants treated with natural exogenous surfactant. Nine infants had meconium aspiration syndrome, five had congenital pneumonia and one had adult respiratory distress syndrome. Oxygenation indexes before and after surfactant treatment as well as clinical and radiographic evolution were compared. RESULTS: The 12 surviving infants showed improvement in oxygenation and radiographic alterations after surfactant administration. Three patients with meconium aspiration syndrome died. CONCLUSIONS: These results support the therapeutic use of exogenous surfactant in severe respiratory diseases of the newborn causing secondary surfactant deficiency. PMID: 11792244 [PubMed - indexed for MEDLINE
- Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium?Publication . Cardoso, C.; Alves, H.; Mascaranhas, M.; Gonçalves, R.; Oliveira, P.; Rodrigues, P.; Cruz, E.; Sousa, M.; Porto, G.The major histocompatibility complex (MHC) shows a remarkable conservation of particular HLA antigens and haplotypes in linkage disequilibrium in most human populations, suggesting the existence of a convergent evolution. A recent example of such conservation is the association of particular HLA haplotypes with the HFE mutations. With the objective of exploring the significance of that association, the present paper offers an analysis of the linkage disequilibrium between HLA alleles or haplotypes and the HFE mutations in a Portuguese population. Allele and haplotype associations between HLA and HFE mutations were first reviewed in a population of 43 hemochromatosis families. The results confirmed the linkage disequilibrium of the HLA haplotype HLA-A3-B7 and the HLA-A29 allele, respectively, with the HFE mutations C282Y and H63D. In order to extend the study of the linkage disequilibrium between H63D and the HLA-A29-containing haplotypes in a normal, random population, an additional sample of 398 haplotypes was analyzed. The results reveal significant linkage disequilibrium between the H63D mutation and all HLA-A29-containing haplotypes, favoring the hypothesis of a co-selection of H63D and the HLA-A29 allele itself. An insight into the biological significance of this association is given by the finding of significantly higher CD8+ T-lymphocyte counts in subjects simultaneously carrying the H63D mutation and the HLA-A29 allele.
- In utero meconium exposure increases spinal cord necrosis in a rat model of myelomeningocelePublication . Correia-Pinto, J.; Reis, J.; Hutchins, G.; Baptista, M.; Estevão-Costa, J.; Flake, A.; Leite-Moreira, A.Abstract BACKGROUND/PURPOSE: The rationale for in utero repair of myelomeningocele has been supported experimentally by the observation of preserved neural function after prenatal closure of surgically created defects compared with nonrepaired controls. The mechanism of injury to the exposed neural elements is unknown. Postulated mechanisms include trauma to the herniated neural elements or progressive injury from amniotic fluid exposure as gestation proceeds. A component of amniotic fluid that may contribute to neural injury is meconium. In the current study the effect of human meconium on the exposed spinal cord in a fetal rat model of myelomeningocele was examined. METHODS: Twenty time-dated pregnant rats underwent laparotomy at 181/2 days of gestation. The exposed uterus was bathed in ritrodrine for tocolysis. The amniotic cavity was opened over the dorsal midline of the fetal rat, and, under a dissecting microscope (x25), a 2- to 3-level laminectomy was performed. Under magnification (x40), the translucent dura was opened using a 25-gauge needle as a knife. Two fetuses per dam were operated on. In the control group, the amniotic fluid was restored with saline solution, whereas in the experimental group a solution of Human meconium diluted (10%) in saline was used to restore the amniotic fluid. Fetuses were harvested by cesarean section at 211/2 days' gestational age. The liveborn pups were then killed and fixed in 10% formaline. Sections 10 micrometer thick were stained with H&E and studied by light microscopy for evidence of spinal cord injury. RESULTS: Seven of 20 (35%) experimental rat pups and 6 of 20 (30%) control rat pups were liveborn. All liveborn pups had severe paralysis of the hindlimbs and tail, so that functional differences between the 2 groups could not be detected. Histologic examination of 13 spinal cords at the site of surgical exposure showed that necrosis of neural tissue in 5 of 7 meconium-exposed rat pups was increased when compared with that observed in the 6 fetuses exposed to amniotic fluid without meconium. In general, inflammation was greater and repair processes appeared delayed in meconium-exposed rat pups. CONCLUSIONS: Exposure of the spinal cord of fetal rats to amniotic fluid by surgically created myelomeningocele leads to severe functional impairment. Histologically recognizable necrosis of neural elements was increased in those animals that were exposed to diluted human meconium in the amniotic fluid. The results support the hypothesis that meconium may contribute to the pathophysiology of spinal cord injury observed in myelomeningocele.
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