DM - Departamento de Medicina
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- Pure red cell aplasia due to persistent B19 parvovirus infection in patient infected with human immunodeficiency virus type 1. Recovery with alpha‐interferon therapyPublication . MARTINS, A.; COSTA, A.; OLIVEIRA, M.; RODRIGUES, M.; RIBEIRO, A.; SILVESTRE, F.; REIS, A.Sangre (Barc). 1998 Feb;43(1):67-9. Pure red cell aplasia due to persistent B19 parvovirus infection in patient infected with human immunodeficiency virus type 1. Recovery with alpha-interferon therapy. Martins A, Costa A, Oliveira MJ, Rodrigues M, Ribeiro AP, Silvestre F, Reis A. SourceMedicine (Medicina 1 and Haematology Services) Department, Hospital Geral de Santo Antonio, Porto, Portugal. Abstract B19 parvovirus (PV) infection is ordinarily resolved with the production of specific antibodies that neutralize virus infectivity for erythroid host cells. Nevertheless persistent infection with B19 PV and pure red blood cell aplasia have been documented. A 27 year-old male. i.v. drug abuser, HIV+ and HCV was diagnosed of pure red cell aplasia. Six months later we had serologic evidence of persistent parvovirus infection. Interferon therapy, started for HCV infection, showed a marked improvement of anaemia and anti parvovirus IgM became negative. It is discussed the possible role of interferon therapy in persistent parvovirus infection. PMID:9577184[PubMed - indexed for MEDLINE]
- HFE mutations in patients with hereditary haemochromatosis in SwedenPublication . Cardoso, E.; Stal, P.; Hagen, K.; Cabeda, J.; Esin, S.; Sousa, M.; Hultcrantz, R.OBJECTIVE: To determine the frequency of mutations (C282Y and H63D) in a newly identified gene HFE in patients with hereditary haemochromatosis (HH) in Sweden. DESIGN: Molecular genetic analyses of the HFE gene (polymerase chain reaction (PCR) followed by enzyme restriction) were performed in genomic DNA from unrelated patients with a clinical diagnosis of HH and in healthy subjects. SETTINGS: Patients with HH treated with phlebotomies at Karolinska Hospital and Huddinge Hospital were analyzed. SUBJECTS: Eighty-seven unrelated patients with HH and 117 healthy controls. RESULTS: It was found that the HFE C282Y mutation occurs in 94.2% of chromosomes from patients with HH. Eighty patients (92.0%) were homozygous for the C282Y mutation and one was heterozygous. Three patients were heterozygous for both C282Y and H63D mutations. One patient was homozygous and one was heterozygous for the H63D mutation. One patient carried normal alleles. In healthy controls, the C282Y mutation occurred in nine subjects (7.7%), all of which were heterozygous. The H63D mutation was found in 28 control subjects, one of which was homozygous. CONCLUSIONS: We found that the majority of patients with HH have the C282Y mutation in the HFE gene. The frequency of the H63D mutation was higher in controls than in patients with HH, although in chromosomes at risk the frequency of the H63D mutation was higher in patients.
- Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA‐A29, and non‐classical forms of hemochromatosis.Publication . PORTO, G.; ALVES, H.; RODRIGUES, P.; CABEDA, J.M.; PORTAL, C.; RUIVO, A.; JUSTICA, B.; WOLFF, R.; DE SOUSA, M.Immunogenetics. 1998 Apr;47(5):404-10. Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis. Porto G, Alves H, Rodrigues P, Cabeda JM, Portal C, Ruivo A, Justiça B, Wolff R, De Sousa M. Santo António General Hospital, Largo do Prof. Abel Salazar, no.1, P-4050 Porto, Portugal. Abstract The present study is an analysis of the frequencies of HFE mutations in patients with different forms of iron overload compared with the frequencies found in healthy subjects from the same region. The frequencies of HLA-A and -B antigens and HLA haplotypes were also analyzed in the same subjects. The study population included: 71 healthy individuals; 39 genetically and clinically well-characterized patients with genetic hemochromatosis (HH); and 25 patients with non-classical forms of iron overload (NCH), excluding secondary hemochromatosis. All subjects were HLA-typed and HFE-genotyped by the oligonucleotide ligation assay (OLA). The gene frequencies found for the C282Y and H63D mutations of HFE were respectively: 0.03 and 0.23 in healthy individuals, 0.86 and 0.04 in HH patients, and 0.08 and 0.48 in NCH patients. An expected significant association between HH and HLA-A3 was observed, which was found to be in linkage disequilibrium with the C282Y mutation. A new association was seen, however, between HLA-A29 and NCH, in linkage disequilibrium with the H63D mutation. Again as expected, the HLA-B antigen B7 was associated with HH in linkage disequilibrium with HLA-A3. In addition, the HLA-B antigen B44 was found to be associated with NCH but not in linkage disequilibrium with either A29 or the H63D mutation. In conclusion, a new association of the HFE H63D mutation with forms of hemochromatosis other than HH and a new association between the HLA phenotype A29 and the HFE H63D mutation were found in the same patients. These findings reinforce evidence for the involvement of the major histocompatibility class I in iron metabolism, supporting the notion of a physiological role for the immunological system in the regulation of iron load. PMID: 9510559 [PubMed - indexed for MEDLINE]
- Familial amyloid polyneuropathy type I (Portuguese): distribution and characterization of renal amyloid deposits.Publication . Lobato, L.; Beirao, I.; Guimaraes, S.; Droz, D.; Guimaraes, S.; Grunfeld, J.; Noel, L.
- Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern GermanyPublication . NIELSEN, P.; CARPINTEIRO, S.; FISCHER, R.; CABEDA, J.M.; PORTO, G.; GABBE, E.E.Br J Haematol. 1998 Dec;103(3):842-5. Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany. Nielsen P, Carpinteiro S, Fischer R, Cabeda JM, Porto G, Gabbe EE. Abteilung für Medizinische Biochemie, Universitätskrankenhaus Eppendorf, Hamburg, Germany. Abstract Mutation analysis was performed for two HFE mutations (C282Y, H63D) in unrelated patients with hereditary haemochromatosis (n = 92), family members of patients (n = 34), and unrelated controls (n = 157) from Northern Germany, 87/92 patients (94.6%) revealed the C282Y mutation in homozygous form, five were heterozygous. No H63D mutation was found in 174 chromosomes of patients homozygous for C282Y, whereas four of the heterozygote patients also carried the H63D mutation. Among the control group, 9.6% were heterozygotes for C282Y. 2/157 subjects were homozygous, 37/157 were heterozygous for the H63D mutation, but showed no signs of iron overload. PMID: 9858243 [PubMed - indexed for MEDLINE]
- Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern PortugalPublication . Cabeda, J.; Correia, C.; Estevinho, A.; Simões, C.; Amorim, M.; Pinho, L.; Justiça, B.We characterized the genetic nature of beta-thalassaemia in northern Portugal. Of the 164 patients studied three were beta-thalassaemia major cases (one IVS-1-6/beta degrees 39 and two homozygous IVS-1-110). The analysis of the frequency of each mutation in the families revealed that the codon 6(-A) mutation was unexpectedly frequent (40%) and associated with the beta-globin haplotype E, and not with the usual European and North African CD6(-A) haplotypes. In contrast, the frequency of IVS-1-6 (8%) and beta degrees 39 (19%) was found to be lower than in the rest of the country. The frequency of all other mutations was similar to previous reports for central/southern Portugal. Six families carried none of the most frequent mutations in the Mediterranean area. These families were studied by gene sequencing, revealing that three families carried a previously described mutation (CD16 G --> A). The remaining families carried previously unidentified mutations: one showed an 86 bp insertion in exon 2 (named HGSA) and two showed a deletion of a cytidine in codon 11 (CD11(-C)). The results, showing a high frequency (82%) of beta degrees mutations, strongly indicates that genetic counselling should be intensified as a means of preventing the spread of the severe mutations found.
- T cell numbers relate to bone involvement in Gaucher diseasePublication . LACERDA, L.; AROSA, F.A.; LACERDA, R.; CABEDA, J.; PORTO, G.; AMARAL, O.; Fortuna, A.; PINTO, R.; OLIVEIRA, P.; MCLAREN, C.E.; SA MIRANDA, C.; DE SOUSA, M.Blood Cells Mol Dis. 1999 Apr;25(2):130-8. T cell numbers relate to bone involvement in Gaucher disease. Lacerda L, Arosa FA, Lacerda R, Cabeda J, Porto G, Amaral O, Fortuna A, Pinto R, Oliveira P, McLaren CE, Sá Miranda C, de Sousa M. Department of Genetics Neurobiology, Porto University, Portugal. Abstract The major elements of bone pathology in Gaucher disease are a failure of osteoclast and osteoblast function, resulting in osteopenia and also osteonecrosis. T lymphocytes have recently been found to be involved in the regulation of osteoblast/osteoclast activity in vitro. In the present report the peripheral blood T major lymphocyte subsets were investigated in a group of genotyped type 1 Gaucher disease patients. A total of 31 patients were studied: 21 non-splenectomized (5 N370S homozygotes) and 10 splenectomized (of whom 1 was a N370S homozygote). The results show that non-splenectomized patients present a decrease in absolute numbers of peripheral blood T lymphocytes, specially the CD4+ T subset. However, when patients were analyzed with respect to the presence of bone disease, the number of CD8+ T lymphocytes was found to be statistically significantly lower in patients presenting bone involvement. Furthermore, lower numbers of CD8+ T lymphocytes were significantly correlated with higher levels of plasma tartrate resistant acid phosphatase (TRAP) activity, a putative marker of osteoclast cell activity. These in vivo findings are in agreement with the results reached in vitro by others. They provide an additional marker of disease severity in Gaucher disease. In the group of genotyped Gaucher disease patients, the majority of the N370S homozygous patients presented a clinically milder phenotype, including the absence of bone involvement, confirming earlier reports predicting that a number of these patients may remain undiagnosed. Collectively the homozygosity for the N370S mutation and normal T cell numbers may provide additional markers for the clinical heterogeneity of Gaucher disease. PMID: 10389595 [PubMed - indexed for MEDLINE
- Sclerosing encapsulating peritonitis: a case successfully treated with immunosuppression.Publication . Martins, La Salete; RODRIGUES, A.; CABRITA, A.; GUIMARAES, S.Perit Dial Int. 1999 Sep-Oct;19(5):478-81. Sclerosing encapsulating peritonitis: a case successfully treated with immunosuppression. Martins LS, Rodrigues AS, Cabrita AN, Guimaraes S. SourceDepartment of Nephrology, Hospital de Santo António, Porto, Portugal.
- Study on COgnition and Prognosis in the Elderly (SCOPE): baseline characteristicsPublication . HANSSON, L.; LITHELL, H.; SKOOG, I.; BARO, F.; BANKI, C.M.; BRETELER, M.; CASTAIGNE, A.; CORREIA, M.; DEGAUTE, J.P.; ELMFELDT, D.; ENGEDAL, K.; FARSANG, C.; FERRO, J.; HACHINSKI, V.; HOFMAN, A.; JAMES, O.F.; KRISIN, E.; LEEMAN, M.; DE LEEUW, P.W.; LEYS, D.; LOBO, A.; NORDBY, G.; OLOFSSON, B.; OPOLSKI, G.; PRINCE, M.; REISCHIES, F.M.Blood Press. 2000;9(2-3):146-51. Study on COgnition and Prognosis in the Elderly (SCOPE): baseline characteristics. Hansson L, Lithell H, Skoog I, Baro F, Bánki CM, Breteler M, Castaigne A, Correia M, Degaute JP, Elmfeldt D, Engedal K, Farsang C, Ferro J, Hachinski V, Hofman A, James OF, Krisin E, Leeman M, de Leeuw PW, Leys D, Lobo A, Nordby G, Olofsson B, Opolski G, Prince M, Reischies FM. University of Uppsala, Department of Public Health, Clinical Hypertension Research, Sweden. Abstract The Study on COgnition and Prognosis in the Elderly (SCOPE) is a multi-centre, prospective, randomized, double-blind, parallel-group study. The primary objective of SCOPE is to assess the effect of the angiotensin II type 1 (AT1) receptor blocker, candesartan cilexetil 8-16 mg once daily, on major cardiovascular events in elderly patients (70-89 years of age) with mild hypertension (DBP 90-99 and/or SBP 160-179 mmHg). The secondary objectives of the study are to test the hypothesis that antihypertensive therapy can prevent cognitive decline (as measured by the Mini Mental State Examination, MMSE) and dementia, and to assess the effect of therapy on total mortality, myocardial infarction (MI), stroke, renal function, and hospitalization. A total of 4964 patients from 15 participating countries were recruited during the randomization phase of SCOPE, exceeding the target population of 4000. The mean age of the patients at enrolment was 76 years, the ratio of male to female patients was approximately 1:2, and 52% of patients were already being treated with an antihypertensive agent at enrolment. The majority of patients (88%) were educated to at least primary school level. At randomization, mean sitting blood pressure values were SBP 166 mmHg and DBP 90 mmHg, and the mean MMSE score was 28. Previous cardiovascular disease in the study population included myocardial infarction (4%), stroke (4%) and atrial fibrillation (4%). Men, more often than women, had a history of previous MI, stroke and atrial fibrillation. A greater percentage of men were smokers (13% vs 6% in women) and had attended university (11% vs 3% of women). Of the randomized patients, 21% were 80 years of age. In this age group smoking was less common (4% vs 10% for 70-79-year-olds) and fewer had attended university (4% vs 7% for 70-79-year-olds). The incidence of MI was similar in both age groups. However, stroke and atrial fibrillation had occurred approximately twice as frequently in the older patients. The patients' mean age at baseline was similar in the participating countries, and most countries showed the approximate 1:2 ratio for male to female patients. There was also little inter-country variation in terms of mean SBP, DBP or MMSE score. However, there was considerable regional variation in the percentage of patients on therapy prior to enrolment. PMID: 10855739 [PubMed - indexed for MEDLINE]
- Renal Allograft Rupture: A Clinicopathologic ReviewPublication . Ramos, M.; Martins, L.; Dias, L.; Henriques, A.C.; Soares, J.; Queirós, J.; Sarmento, A.M.Transplantation Proceedings Volume 32, Issue 8, December 2000, Pages 2597-2598 -------------------------------------------------------------------------------- doi:10.1016/S0041-1345(00)01801-7 | How to Cite or Link Using DOI Copyright © 2000 Elsevier Science Inc. All rights reserved. Cited By in Scopus (4) Permissions & Reprints Renal allograft rupture: a clinicopathologic review M Ramosa, , L Martinsa, L Diasa, A.C Henriquesa, J Soaresa, J Queirósa and A.M Sarmentoa aDepartments of Urology and Nefrology, Hospital Geral de Santo António, Oporto, Portugal Available online 19 December 2000. Article Outline Patients and methods Results Discussion References Renal allograft rupture (RAR) is a rare but very serious complication of renal transplantation, requiring emergency surgery. The most common cause is acute allograft rejection, but other causes such as renal vein thrombosis (RVT), acute tubular necrosis (ATN), renal biopsy, and lymphatic obstruction have been reported.[1] and [2] We reviewed our experience with the aim of identifying RAR predisposing conditions. Patients and methods In a consecutive series of 934 renal transplants performed between July 1983 and September 1999, 11 patients (1.2%) had RAR. In these cases we studied donor and recipient characteristics, preservation conditions, clinical signs and symptoms, treatment, and pathology findings. This group of patients was then compared with their paired cohort. Data analysis was computer-based. In the statistical analysis t test and Fisher’s exact test were used. Results All 11 kidneys that suffered RAR were from cadaver donors, nine male and two female. The mean age was 29.5 years with good terminal serum creatinine (mean 1.1 mg/dL). All organs were stored in Eurocollins solution and the mean cold ischemia time was 21 hours and 25 minutes (range, 10 hours to 29 hours and 20 minutes). Excluding one black patient, all recipients were Caucasian. Eight were female and 3 were male, with a mean age of 33.8 years. The mean HLA match was 1.7, and the mean peak panel reactive antibody (PRA) was 22% (range 0 to 93%) and current was 15% (range 0 to 67%). All patients had cyclosporine treatment, eight had delayed graft function requiring dialysis, and three underwent renal allograft biopsy. In two patients rupture occurred in the second allograft; the others were first transplants. The day of RAR was a mean of 5.3 (range 2 to 13). All patients had new onset of severe allograft pain, eight had a drop in daily hematocrit, and six had hypotension. The four patients with more precocious ruptures had sudden onset of bleeding through the drainage tube. Transplant nephrectomy was performed in 10 patients, and surgical conservative treatment with fibrin glue and collagen foam was performed in one. All patients survived RAR. Three had a second transplant and currently have functioning allografts. Pathology examination revealed RVT in three patients and some degree of rejection in the remaining eight. One patient had a rupture on the second day because of hyperacute rejection, and three had severe acute cellular rejection, but in four patients the dominant figure was ATN with minimal rejection. Excluding the patient with hyperacute rejection, the day of rupture was later for those with severe acute rejection, a mean of 9.6 days (range 6 to 13). In those with ATN, the day of RAR was a mean of 4.5 (range 3 to 6) and the patients with RVT had ruptures even sooner, on mean third day (range 2 to 4). Variables associated with RAR were: sex mismatch (P = .004), current PRA (P = .012), and a need for dialysis (P = .042). Age of the recipient, transplant number, cold ischemia time, total HLA match, and peak PRA were not associated with RAR. Discussion Higher current PRA and a need for dialysis are variables associated with rejection and ATN. Therefore they are expected to be related to rupture. The well-documented conditions that are associated with ATN and rejection3 must be the same, which in extreme conditions predispose to RAR. We find no explanation for the statistically significant association of sex mismatch and RAR, other than random error. Acute allograft rejection is the most frequent cause of graft rupture in the literature (60 to 80%),3 but ATN has received little note. In our series, ATN was responsible for 36% of the ruptures, as much as severe acute rejection. ATN alone can cause RAR,4 because of interstitial edema and rise in intrarenal pressure. But when associated with rejection, it seems that these two conditions can act synergistically to cause allograft rupture. Our data suggests that rupture occurs later when caused by rejection, rather than when RVT is responsible. To our knowledge this finding had never been reported in world literature. Perhaps the timing of RVT is related to technical problems, such as twisting and kinking of the vein or intima tear, although the thrombogenic effect of cyclosporine can also have a role in this process.5 All these patients were on cyclosporine therapy, which may explain the small number of RAR caused by rejection alone and the significant number of patients that had RVT (27%). It appears that cyclosporine therapy is changing the etiology of the graft rupture.6 References 1 T. Grochowiecki, J. Szmidt and K. Madej et al., Transplantation Proc 28 (1996), p. 3461. View Record in Scopus | Cited By in Scopus (2) 2 R.S. Lord, D.J. Effeney and J.M. Hayes et al., Ann Surg 177 (1973), p. 268. Full Text via CrossRef | View Record in Scopus | Cited By in Scopus (4) 3 G.J. Azar, A. Zarifian and G.D. Frentz et al., Clin Transplantation 10 (1996), p. 635. View Record in Scopus | Cited By in Scopus (12) 4 Y.H. Chan, K.M. Wong and K.C. Lee et al., Am J Kidney Dis 34 (1999), p. 355. Abstract | Article | PDF (86 K) 5 R.M. Jones, J.A. Murie and A. Ting et al., Clin Transplant 2 (1988), p. 122. 6 A.J. Richardson, R.M. Higgins and A.J. Jaskowski et al., Br J Surg 77 (1990), p. 558. Full Text via CrossRef | View Record in Scopus | Cited By in Scopus (19)