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Browsing by Author "Rico, M.T."

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  • Caracterização bioquímica e molecular de doentes com diagnóstico clínico de Dislipidemia Familiar Combinada
    Publication . Santos, T.; Rato, Q.; Gaspar, I.M.; Guerra, A.; Rico, M.T.; Sequeira, S.; Silva, J.M.; Bourbon, M.
    A Dislipidemia Familiar Combinada (FCHL) é uma doença poligénica caracterizada por hiperlipidemia simples ou combinada, variabilidade intra-individual e intra-familiar do perfil lipídico, ApoB elevada (> 120 mg/dL) e risco elevado de doença cardiovascular (DCV). A sua causa é desconhecida mas alterações nos genes LPL, APOAIV, APOAV, APOCIII e USF1 parecem contribuir para o seu fenótipo. O objectivo deste estudo é caracterizar bioquímica e molecularmente doentes com diagnóstico clínico de FCHL. Todos os exões e promotor dos genes LPL, APOAIV, APOAV, APOCIII e regiões do gene USF1 (s1,s2) de 41 doentes foram amplificados por PCR e sequenciados. O colesterol total (CT), c-LDL, c-HDL, sdLDL, trigliceridos (TG), apoB e apoCIII foram determinados num aparelho automatizado. Em alguns doentes as sdLDL foram também analisadas por electroforese de lipoproteínas. A ApoAIV e ApoAV foram quantificadas por ELISA. Foram encontradas alterações genéticas em 37 doentes, 3 não descritas (APOAIV Q359_E362, APOAV D332fsX336 e APOCIII 3269C>A). O índex com a alteração Q359_E362del apresentou valores normais de apo AIV (15.5 mg/dL) e o índex com a alteração D332fsX336 apresentou valores baixos de apo AV (74.5 ng/mL). Os doentes estudados apresentam valores elevados de CT (285 ± 83 mg/dL), c-LDL (189 ± 85 mg/dL), TG (310 ± 253 mg/dL), e apo CIII (15 ± 4 mg/dL) e valores reduzidos de c-HDL (45 ± 11 mg/dL), sem medicação. Os valores de apoAIV (17,5 ± 10,4 mg/dL) e apoAV (150 ± 135 ng/mL) encontram-se, na maioria dos casos, no intervalo normal assim como os valores de sdLDL (35 ± 18 mg/dL), no entanto alguns casos apresentam valores acima do cut-off para DCV (35 mg/dL). A análise de sdLDL por electroforese foi realizada em 11 doentes, 9 dos quais apresentaram um perfil aterogénico. O valor médio de ApoB destes doentes era de 94 ± 43 mg/dL, mas aproximadamente 70% dos doentes estavam medicados com terapêutica hipolimiante (estatinas e/ou fibratos). Cerca de 30% dos doentes apresentavam DCV prematura. Os resultados obtidos parecem indicar que alterações nos genes estudados influenciam o fenótipo da FCHL. Os níveis séricos de apo CIII encontram-se alterados nesta dislipidemia. Doentes com FCHL, apesar de estarem medicados, apresentam valores elevados de sdLDL, evidenciando o seu elevado risco cardiovascular. A caracterização bioquímica complementa a identificação genética e permite uma melhor avaliação do risco cardiovascular do doente bem como a escolha de uma terapêutica adequada.
    2011-04Conference object Open access Show more
  • Chronic Q fever with no elevation of inflammatory markers: a case report
    Publication . Boattini, M.; Almeida, A.; Barata Moura, R.; Abreu, J.; Santos, A.S.; Rico, M.T.
    Chronic q Fever with no elevation of inflammatory markers: a case report. Boattini M, Almeida A, Moura RB, Abreu J, Santos AS, Toscano Rico M. SourceDepartment of Internal Medicine, St. Marta's Hospital, 1169-024 Lisbon, Portugal. Abstract We describe the case of a 55-year-old man with a biological prosthetic aortic valve who suffered from epigastrium and right hypochondrium pain associated with intermittent night sweats. Liver biopsy showed infectious hepatitis pattern without pathognomonic features. Coxiella burnetii serology was suggestive of chronic Q fever, and modified Duke's criteria for endocarditis were also fulfilled. The authors present a brief literature review concerning chronic Q fever, emphasizing absent previous reports of chronic Q fever with hepatitis and endocarditis and no increase in inflammatory markers.
    2012-06-26Journal article Open access Show more
  • First Case of Tularemia Reported in Portugal: Probably of Imported Origin
    Publication . Lopes de Carvalho, I.; Nascimento, P.; Núncio, M.S.; Rico, M.T.
    Tularemia is a zoonotic disease caused by Francisella tularensis, a gram-negative, facultative intracellular bacterium. Typically, human and animal infections are caused by F. tularensis subspecies tularensis (type A) strains mainly in Canada and USA, and F. tularensis subspecies holarctica (type B) strains throughout the northern hemisphere, including Europe. Tularemia is a disease with epidemiological surveillance in Europe since 2003 (Decision 2000/96/EC). Despite being considered an uncommon disease, recent outbreaks have been reported in several countries, including Spain, France, Scandinavia, Balkans and Hungary, and sporadic cases in Austria, Italy and the United Kingdom. In spite offbeing a disease of compulsory declaration in Portugal since 2003, until now no human cases were reported. In Portugal, seroprevalence rate of high-risk population is 8.9% and F. tularensis subsp. holarctica was first detected in 2007 by molecular methods in a human sample. Since 1998, National Institute of Health has provided the laboratory diagnosis of this disease, following the occurrence of an epidemic outbreak in Spain. The authors report here the first case of ulceroglandular form of tularemia in Portugal, probably of imported origin.
    2018-11-19Journal article Open access Show more
  • Primeiro caso de Tularémia de importação em Portugal
    Publication . Nascimento, P.; Rico, M.T.; Roque, R.; De Sousa, R.; Núncio, M.S.; Lopes de Carvalho, I.
    A tularémia é uma zoonose causada pela bactéria Francisella tularensis, que se transmite ao homem por contacto directo com animais infectados, artrópodes, ar, água ou alimentos contaminados. Apesar de ser pouco frequente na Europa, têm sido notificados surtos recentes (Espanha,França,Escandinávia,Balcãs e Hungria) e casos esporádicos (Áustria,Itália e Reino Unido). Em Portugal, F. tularensis subsp. holarctica foi detectada pela primeira vez em 2007. A F. tularensis pode infetar o homem através da pele, inalação, mucosas e via gastrointestinal. O estabelecimento desta infeção depende da porta de entrada e do número de organismos. As principais apresentações de doença incluem as formas ulceroglandular, glandular, oculoglandular, orofaríngea, pneumónica e tífica.
    2018-01Conference object Restricted access Show more
  • Update of the biochemical and molecular results of Portuguese patients with Familial Combined Hyperlipidaemia
    Publication . Santos, T.; Rato, Q.; Gaspar, I.M.; Rico, M.T.; Silva, J.M.; Bourbon, M.
    FCHL is a complex disorder with a highly atherogenic profile. The aim of this study is the biochemical/molecular characterization of FCHL patients. Molecular study of LPL, APOAIV, APOAV, APOCIII and USF1 (s1,s2) was performed in 35 index patients by PCR amplification and sequencing. Total cholesterol (TC), HDL-c, sdLDL, triglycerides (TG), apoB and apoCIII were measured in automated analysers. sdLDL was also analysed by electrophoresis with Lipoprint®. ApoAIV and ApoAV were measured by ELISA. For all patients, biochemical characterization of apolipoproteins and sdLDL before treatment was not possible to determine. Prior to medication the levels of TC (305±62mg/dL) and TG (380±269mg/dL) were high but HDL-c was normal (44±11mg/dL). Even under medication these patients presented high levels of CT (205±58mg/dL), TG (233±109mg/dL) and ApoCIII (15±4mg/dL) and normal levels of HDL-c (44±9mg/dL). ApoAIV (17±10mg/dL), ApoAV (156±140ng/mL) and ApoB (89±41mg/dL) levels were within normal range in majority of cases. Lipoprint® analysis of 8 patients under medication revealed an atherogenic pattern. Two new alterations were found. One patient with TC=271mg/dl and TG=275mg/dL carried APOAIV Q359_E362 (values without medication). Another patient with TC=419mg/dL and TG=1095mg/dL presented APOAV D332fsX336 and, even under medication, had high sdLDL (39 mg/dL, cut-off value 35mg/dl) and an atherogenic pattern with Lipoprint® analysis (pattern B). Some patients had a novel alteration APOCIII 3269C>A that was proven later that was a polymorphism. Patients with FCHL have increased cardiovascular risk that can be prevented with an early genetic identification and an extensive biochemical characterization that can be important to evaluate the efficacy of treatment.
    2011-06Conference object Restricted access Show more