DP - Departamento de Patologia
Permanent URI for this community
Browse
Browsing DP - Departamento de Patologia by Issue Date
Now showing 1 - 10 of 78
Results Per Page
Sort Options
- Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30.Publication . MUNAR‐QUES, M.; PEDROSA, J.L.; COELHO, T.; GUSMAO, L.; SERUCA, R.; AMORIM, A.; SEQUEIROS, J.J Med Genet. 1999 Aug;36(8):629-32. Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30. Munar-Qués M, Pedrosa JL, Coelho T, Gusmão L, Seruca R, Amorim A, Sequeiros J. Grupo de Estudio de la PAF, Palma de Mallorca, Spain. Abstract Twin studies are an important tool in medical genetics for the evaluation of the relative roles of genetic and non-genetic factors in several diseases. Familial amyloidotic polyneuropathy type I (FAP-I), TTR Met 30, was present in two sets of proven monozygotic (MZ) twins, one from Majorca and the other from Portugal. Monozygosity was established by analysis of DNA polymorphisms. Both pairs were discordant for age at onset and some clinical manifestations of FAP-I. We reviewed the differences in age at onset and clinical features in both sets and in two other pairs of presumed MZ twins with FAP-I and compared them with those in MZ twin pairs with other Mendelian disorders, such as neurofibromatosis type 1, Huntington's disease, facioscapulohumeral muscular dystrophy, and myotonic dystrophy. We conclude that, in addition to the postulated modifying genes, there must be a significant contribution from non-genetic factors to the phenotypic variability of FAP-I (age at onset and clinical expression), either because of environmental differences or stochastic events during (or after) the twinning process. PMID: 10465115 [PubMed - indexed for MEDLINE]PMCID: PMC1762972
- CMV infection of liver transplant recipients: comparison of antigenemia and molecular biology assays.Publication . Amorim, M.; Cabeda, J.; Seca, R.; Mendes, A.; Castro, A.; Amorim, J.Abstract BACKGROUND: CMV is a major clinical problem in transplant recipients. Thus, it is important to use sensitive and specific diagnostic techniques to rapidly and accurately detect CMV infection and identify patients at risk of developing CMV disease. In the present study, CMV infection after liver transplantation was monitored retrospectively by two molecular biology assays - a quantitative PCR assay and a qualitative NASBA assay. The results were compared with those obtained by prospective pp65 antigenemia determinations. MATERIALS AND METHODS: 87 consecutive samples from 10 liver transplanted patients were tested for CMV by pp65 antigenemia, and CMV monitor and NASBA pp67 mRNA assay. RESULTS: CMV infection was detected in all patients by antigenemia and CMV monitor, whereas NASBA assay identified only 8/10 patients with viremia. Furthermore, CMV infection was never detected earlier by molecular biology assays than by antigenemia. Only 5/10 patients with CMV infection developed CMV disease. Using a cut off value of 8 cells/50,000, antigenemia was found to be the assay that better identified patients at risk of developing CMV disease. However, the kinetics of the onset of infection detected by NASBA and CMV monitor seemed to have better identified patients at risk of developing CMV disease. Furthermore, before onset of disease, CMV pp67 mRNA was found to have similar or better negative and positive predictive values for the development of CMV disease. CONCLUSIONS: The present data, suggests that the concomitant use of antigenemia and pp67 mRNA assay gives the best identification of patients at risk of developing CMV disease.
- 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.
- Three years incidence of dermatophytes in a hospital in Porto (Portugal)Publication . LOPES, V.; VELHO, G.; AMORIM, M.L.; CARDOSO, M.L.; MASSA, A.; AMORIM, J.M.Rev Iberoam Micol. 2002 Dec;19(4):201-3. [Three years incidence of dermatophytes in a hospital in Porto (Portugal)]. [Article in Spanish] Lopes V, Velho G, Amorim ML, Cardoso ML, Massa A, Amorim JM. SourceServiço de Microbiologia, Hospital Geral Santo António, Largo Prof. Abel Salazar, 4099-001 Porto, Portugal. Abstract We evaluated the incidence of dermatophytes isolated at our hospital in the years of 1997 to 2000 and correlated it with anatomical site and age. Trichophyton rubrum was the predominant species in all anatomical sites, excluding scalp, followed by Microsporum canis, the leading agent of tinea capitis. All dermatophytosis, except tinea capitis by M. canis and Trichophyton schoenleinnii appeared mainly in adult patients. Our results revealed no substantial differences to other portuguese studies regarding the major agents. We found a relatively high incidence of T. schoenleinnii as second tinea capitis agent.
- Pneumonite intersticial crónicaPublication . Almeida, R.; Reis, G.; Ferreira, C.; Oliveira, M.; Oliveira, D.; Fernandes, P.; Ferreira, P.; Frutuoso, S.; Carreira, L.; Alves, V.; Paiva, A.; Guedes, M.A patologia pulmonar intersticial compreende um grupo de doenças crónicas caracterizadas por alterações das paredes alveolares e perda das unidades funcionais alveolocapilares. São doenças raras nas crianças, na sua maioria de causa desconhecida e revestindo-se habitualmente de uma elevada morbimortalidade, dada a pouca eficácia da terapêutica actualmente disponível. Os autores descrevem o caso clínico de uma criança de 3 anos, previamente saudável, que no contexto de uma infecção respiratória desenvolve um quadro de sibilância e insuficiência respiratória grave, na investigação do qual é diagnosticada uma pneumonite intersticial crónica. Foram tentadas diversas terapêuticas (corticoterapia sistémica, hidroxicloroquina, N-acetilcisteína) sem melhoria evidente.Interstitial lung disease includes a group of chronic diseases characterized by alterations in alveolar walls and loss of functional alveolar-capillary units. These are rare diseases in children, mostly with an unknown cause and associated with a high morbidity and mortality due to insufficient therapeutic effectiveness. The authors report a case of a previously healthy 3 years old child who presented with wheezing and severe respiratory insufficiency following a respiratory infection. The investigation performed led to the diagnosis of chronic interstitial pneumonitis. Several treatments have been tried (corticosteroids,hydroxychloroquine, N-acetylcysteine) without any obvious improvement.
- Biópsia Renal Percutânea: experiência de oito anosPublication . Castro, R.; Sequeira, M.; Faria, M.; Belmira, A.; Sampaio, S.; Roquete, P.; Silvestre, F.; Rocha, C.; Morgado, T.A biópsia renal constitui um instrumento fundamental para o diagnóstico e prognóstico de diversas patologias nefrológicas e sistémicas. No nosso Hospital a sua realização iniciou-se em 1994, tendo sido biopsado um doente com Doença de Berger. Até à data foram efectuadas 91 biópsias renais percutâneas com a seguinte distribuição anual: 1994 (n=3), 1995 (n=3), 1996 (n=3), 1997 (n=15), 1998 (n=5), 1999 (n=23), 2000 (n=13), 2001 (n=26) em 57 homens e 34 mulheres. Foi utilizada orientação ecográfica e na maioria dos casos a agulha de Vim Silverman (14G). Apenas em cinco casos se utilizou uma pistola automática BARD. Era nosso objectivo, em cada biópsia, a colheita de pelo menos dois fragmentos, um para microscopia óptica e outro para imunoflurescência. Os grandes síndromas nefrológicos que conduziram a este exame foram: síndroma nefrótico (n=27), anormalidades urinárias assintomáticas (n=25), insuficiência renal aguda ou rápidamente progressiva (n=18), insuficiência renal crónica (n=15), hipertensão arterial (n=4) e glomerulonefrite aguda (n=2). Em 92.3% (84/91) dos casos foi possível efectuar um diagnóstico histológico por microscopia óptica. Se considerarmos, no entanto, sete casos com suspeita clínica de nefropatia IgA em que o fragmento colhido para imunoflurescência não continha glomérulos, a eficácia diminuiu para 84.6% (77/91). O número médio de glomérulos por amostra foi de 18.3 ± 14.2 [0-80]. Os diagnósticos histológico obtidos foram os seguintes: doença de Berger (n=24), diversas formas de síndroma nefrótico primário (n=18), nefrite lúpica (n=8), glomerulonefrite mesangioproliferativa, sem glomérulos na imunoflurescência (n=6), ausência de tecido renal ou de glomérulos nas amostras (n=6), síndroma nefrótico secundário (n=4), nefrite túbulo-intersticial ou necrose tubular aguda (n=4), nefropatia diabética (n=3), rim de mieloma (n=3), glomerulonefrite crescêntica sem depósitos imunes (n=3), nefroangiosclerose hipertensiva (n=2), glomerulonefrite mesangioproliferativa IgM (n=2) e outros (n=8). A hematúria macroscópica revelou-se como a complicação mais frequente (n=9; 9.9%). Apenas em três casos se verificou a existência de hematoma renal ecograficamente (3.3%). A saída de sangue pelo mandril da agulha de biópsia surgiu em quatro casos (4.4%) e foi necessário proceder à transfusão de concentrado de glóbulos rubros em três doentes (3.3%). Registamos uma punção acidental de baço. Em nenhum caso foi necessário efectuar nefrectomia por hemorragia incontrolável. Identificamos, como índices de mau prognóstico relativamente à evolução para insuficiência renal crónica avançada (n=2) ou terminal (n=15), o maior número de glomérulos esclerosados (30% vs 8%; p<0.01) e de lesões túbulo-intersticiais (100% vs 63%; p<0.01). Em conclusão, a biópsia renal efectuada com orientação ecográfica permitiu a obtenção 21 de amostras com valor diagnóstico em 84.6% dos casos. A taxa de complicações foi relativamente baixa comparando com outras séries. Verificamos um progressivo aumento de qualidade das amostras renais colhidas, em relação directa com uma coordenação técnica crescente entre os nefrologistas e radiologistas intervenientes.nephrological and systemic pathologies. At our institution the first patient submitted to this technique, at 1994, showed Berger disease. Until 2002 we have performed 91 renal biopsies (57 men and 34 women) with the following annual distribution: 1994 (n=3), 1995 (n=3), 1996 (n=3), 1997 (n=15), 1998 (n=5), 1999 (n=23), 2000 (n=13) and 2001 (n=26). Ultrasound guidance was always used and in most of cases the technique was performed with Vim-Silverman (14G) needle. BARD automatic system was employed in only five patients. The clinical diagnosis that lead to renal biopsy were: nephrotic syndrome (n=27), asyntomatic urinary abnormalities (n=25), acute or rapidly progressive renal failure (n=18), chronic renal failure (n=15), hypertension (n=4) and acute nephritis (n=2). The efficacy for optic histological diagnosis was 92.3% (84/91). However, if we include seven cases of presumed IgA nephropathy that don’t included fragment for immunofluorescence (IF) analysis the efficacy declined to 84.6% (77/91). The mean number of glomeruli per fragment was 18.3 ± 14.2 [0-80]. Histological diagnosis were the following: Berger disease (n=24), idiopathic nephrotic syndrome (n=18), lupus nephritis (n=8), mesangial proliferative glomerulonephritis without glomeruli in the IF fragment (n=6), without glomeruli (n=6), secondary nephrotic syndrome (n=4), tubulointerstitial nephritis or acute tubular necrosis (n=4), diabetic nephropathy (n=3), myeloma kidney (n=3), pauci-imune and crescentic glomerulonephritis (n=3), hypertensive nephropathy (n=2), IgM mesangial proliferative glomerulonephritis (n=2) and various (n=8). Gross hematuria appeared in 9 patients (9.9%). Only in three of these patients it was showed, by ecography, the existence of kidney haematoma. Bleeding throughout the mandrill in four cases, leaded to transfusion in only three patients. We have registered one accidental spleen puncture. Nephrectomy for incontrollable bleeding was never needed. Higher glomerulosclerosis (30% vs 8%; p<0.01) and also a greater extent of tubulointersticial lesions (100% vs 63%; p<0.01), were predictors of progression into end-stage or advanced renal failure. Concluding, renal biopsy with ultrasound guidance was valuable for diagnosis in 84.6% of our proceedings. Our serie is similar to others concerning serious complications. Nephrologists and radiologists improved progressively their coordination performing this technique, improving the results during this period of 8 years.
- Homozygosity mapping of a third Joubert syndrome locus to 6q23.Publication . Lagier-Tourenne, C.; Boltshauser, E.; Breivik, N.; Gribaa, M.; Bétard, C.; Barbot, C.; Koenig, M.J Med Genet. 2004 Apr;41(4):273-7. Homozygosity mapping of a third Joubert syndrome locus to 6q23. Lagier-Tourenne C, Boltshauser E, Breivik N, Gribaa M, Bétard C, Barbot C, Koenig M. IGBMC, CNRS/INSERM/ULP, Illkirch, C.U. de Strasbourg, France. Abstract BACKGROUND: Joubert syndrome (JS) is a recessively inherited disorder characterised by hypotonia at birth and developmental delay, followed by truncal ataxia and cognitive impairment, characteristic neuroimaging findings (cerebellar vermis hypoplasia, "molar tooth sign") and suggestive facial features. JS is clinically heterogeneous with some patients presenting with breathing abnormalities in the neonatal period, oculomotor apraxia, retinal dystrophy, retinal coloboma, ptosis, hexadactyly, and nephronophtisis or cystic dysplastic kidneys. JS is also genetically heterogeneous, with two known loci, on 9q34 (JBTS1) and 11p11-q12 (CORS2), representing only a fraction of cases. METHODS: A large consanguineous Joubert family (five affected) was analysed for linkage with a marker set covering the entire genome and 16 smaller families were subsequently tested for candidate loci. RESULTS: We report here the identification of a third locus in 6q23 (JBTS3) from the study of two consanguineous families. LOD score calculation, including the consanguinity loops, gave a maximum value of 4.1 and 2.3 at q = 0 for the two families, respectively. CONCLUSIONS: Linkage between the disease and the D6S1620-D6S1699 haplotype spanning a 13.1 cM interval is demonstrated. Genotype-phenotype studies indicate that, unlike CORS2, JBTS3 appears not to be associated with renal dysfunction. PMID: 15060101 [PubMed - indexed for MEDLINE]PMCID: PMC1735723
- Systemic lupus erythematosus in Europe at the change of the millennium:Lessons from the "Euro-Lupus Cohort"Publication . Cervera, R.; Abarca-Costalago, M.; Abramovicz, D.; Allegri, F.; Annunziata, P.; Ayditung, A.; Bacarelli, M.; Bellisai, F.; Bernardino, I.; BIERNAT‐KALUZA, M.; BLOCKMANS, D.; BOKI, K.; BRACCI, L.; Campanella, V.; Camps, M.; Carcassi, C.; Cattaneo, R.; Cauli, A.; Chwalinska‐Sadowska, H.; Contu, I.; Cosyns, J.; Danieli, M.; D'cruz, D.; Depresseux, G.; Direskeneli, H.; Domènech, I.; Fernández‐Nebro, A.; Ferrara, G.; Font, J.; Frutos, M.; Galeazzi, M.; García‐Carrasco, M.; García-Iglesias, M.; García‐Tobaruela, A.; George, J.; Gil, A.; González‐Santos, P.; Grana, M.; Gül, A.; Haga, H.; De Haro‐Liger, M.; Houssiau, F.; Hughes, G.; Ingelmo, M.; Jedryka‐Góral, A.; khamashta, M.; Lavilla, P.; Levi, Y.; López‐Dupla, M.; López‐Soto, A.; Maldykowa, H.; Marcolongo, R.; Mathieu, A.; Morozzi, G.; Nicolopoulou, N.; Papasteriades, C.; Passiu, G.; Perelló, I.; Petera, P.; Petrovic, R.; Piette, J.; Pintado, V.; De Pita, O.; Popovic, R.; Pucci, G.; Puddu, P.; De Ramón, E.; Ramos‐Casals, M.; Rodríguez‐Andreu, J.; Ruiz‐Irastroza, G.; Sánchez‐Lora, J.; Sanna, G.; Scorza, R.; Sebastini, G.; Sherer, Y.; Shoenfeld, Y.; Simpatico, A.; Sinico, R.; Smolen, J.; Tincani, A.; Tokgöz, G.; Urbanomárquez, A.; Vasconcelos, C.; Vázquez, J.; Veronesi, M.; Vianni, J.; Vivancos, J.The bEuro-Lupus CohortQ is composed by 1000 patients with systemic lupus erythematosus (SLE) that have been followed prospectively since 1991. These patients have been gathered by a European consortium—the bEuro-Lupus Project GroupQ. This consortium was originated as part of the network promoted by the bEuropean Working Party on SLEQ, a working group created in 1990 in order to promote research in Europe on the different problems related to this disease. The bEuro-Lupus CohortQ provides an updated information on the SLE morbidity and mortality characteristics in the present decade as well as defines several clinical and immunological prognostic factors
- Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathyPublication . PEREIRA, C.; NOGUEIRA, C.; BARBOT, C.; TESSA, A.; SOARES, C.; FATTORI, F.; GUIMARÃES, A.; SANTORELLI, F.M.; VILARINHO, L.Biochem Biophys Res Commun. 2007 Mar 23;354(4):937-41. Epub 2007 Jan 23. Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy. Pereira C, Nogueira C, Barbot C, Tessa A, Soares C, Fattori F, Guimarães A, Santorelli FM, Vilarinho L. Instituto de Genética Médica Jacinto de Magalhães, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal. Abstract We report a novel 14724G>A mutation in the mitochondrial tRNA glutamic acid gene in a 4-year-old boy with myopathy and leukoencephalopathy. A muscle biopsy showed cytochrome c oxidase-negative ragged-red fibers and biochemical analysis of the respiratory chain enzymes in muscle homogenate revealed partial complex I and complex IV deficiencies. The mutation, which affects the dihydrouridine arm at a conserved site, was nearly homoplasmic in muscle and heteroplasmic in blood DNA of the proband, but it was absent in peripheral leukocytes from the asymptomatic mother, sister, and two maternal aunts, suggesting that it arose de novo. This report proposes to look for variants in the mitochondrial genome when dealing with otherwise undetermined leukodystrophies of childhood. PMID: 17266923 [PubMed - indexed for MEDLINE]
- Molecular epidemiology of imipenem‐resistant Acinetobacter haemolyticus and Acinetobacter baumannii isolates carrying plasmidmediated OXA‐40 from a Portuguese hospital.Publication . QUINTEIRA, S.; GROSSO, F.; RAMOS, H.; PEIXE, L.Antimicrob Agents Chemother. 2007 Sep;51(9):3465-6. Epub 2007 Jul 2. Molecular epidemiology of imipenem-resistant Acinetobacter haemolyticus and Acinetobacter baumannii isolates carrying plasmid-mediated OXA-40 from a Portuguese hospital. Quinteira S, Grosso F, Ramos H, Peixe L. PMID: 17606684 [PubMed - indexed for MEDLINE]