Acta Médica Portuguesa Acta Oftalmológica
Acta Radiológica Portuguesa Acta Urológica Portuguesa
Arquivos da Sociedade Portuguesa de Patologia Respiratória
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Cadernos de Medicina Dentária, Estomatologia e Cirurgia Maxilo-Facial
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Experientia Ophthalmologica
Ginecologia e Medicina da Reprodução Informação Terapêutica
Journal of Blood Rheology
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Madeira Médica Medicina Interna Médicos Sentinela
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O Médico
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Revista Portuguesa de Cirugia Cárdio-Torácica e Vascular Revista Portuguesa de Clínica Geral
Revista Portuguesa de Doenças Infecciosas Revista Portuguesa de Implantologia Revista Portuguesa de Medicina Desportiva Revista Portuguesa de Nefrologia e Hipertensão Revista Portuguesa de Nutrição
Revista Portuguesa de Otorrinolaringologia e Cirurgia Cervicofacial
Revista Portuguesa de Reumatologia e Patologia Ósteo-Articular
Revista Portuguesa de Saúde Pública
Stoma-Cadernos de Estomatologia, Cirurgia Maxilo-Facial e Medicina Dentária
Via Pneumológica Saúde Infantil
Revista Portuguesa de Pedopsiquiatria Arquivos de Reumatologia
Notas sobre... (Publicação do ONSA) Revista da Faculdade de Medicina de Lisboa Revista do Centro Hospitalar de Coimbra Uro
Informações – Boletim dos Centros de Bacteriologia do INSA e do LNIV
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Sinapse
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Revista de Saúde (H. Vila Real) Anamnesis
Acta Pediátrica Portuguesa
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Cardiologia Actual
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Hygeia
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Jornal de Metabolismo e Nutrição Medicina e Cirurgia
Medicina Física e de Reabilitação Nascer e Crescer
O Juvenil O Petiz
Oncologia Clínica
Perspectivas em Prática Médica Psoríase em Revista
Revista da Sociedade Portuguesa de Imunologia Revista de Clínica Hospitalar
Revista de Alimentação Humana Revista de Gastrenterologia e Cirurgia Revista Obstetrícia e Ginecologia Revista Portuguesa de Cardiologia Revista Portuguesa de Clínica e Terapêutica Revista Portuguesa do Dano Corporal
Revista Portuguesa de Estomatologia e Cirurgia Maxilo-Facial
Revista Portuguesa de Imunoalergologia Revista Portuguesa de Medicina Intensiva Revista Portuguesa de Neurologia
Revista Portuguesa de Ortopedia e Traumatologia Revista Portuguesa de Pneumologia
Revista Portuguesa de Saúde Oral
Saúde em Números Terapêutica Actual
Revista Portuguesa de Psicossomática Revista de Saúde Amato Lusitano Revista do Interno (H.S.Mª)
Boletim do Instituto de Clínica Geral da Zona Norte Trabalhos da Sociedade Portuguesa de Dermatologia e Venereologia
Reumatologia Multidisciplinar
Revista de Psiquiatria Consiliar e de Ligação Toxicodependências
Revista do CAR – Clube de Anestesia Regional Jornal do Instituto Português de Reumatologia Boletim do Centro Regional de Alcoologia de Coimbra Qualidade em Saúde
2004 Fevereiro
Eur J Hum Genet. 2004 Feb;12(2):87-92.
Prevalence of lysosomal storage diseases in Portugal.
Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H, Pinto E, Silva E, Rocha S, Marcao A, Ribeiro I, Lacerda L, Ribeiro G, Amaral O, Sa Miranda MC.
Instituto de Genetica Medica Jacinto de Magalhaes, Porto, Portugal. Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders individually considered as rare, and few data on its prevalence has been reported in the literature. The overall birth prevalence of the 29 different LSDs studied in the Portuguese population was calculated to be 25/100000 live births, twice the prevalence previously described in Australia and in The Netherlands. The comparison of the prevalence profile of the LSDs presenting a prevalence higher than 0.5/100000 in the Portuguese, Dutch and Australian populations showed, in the Portuguese, the existence of a higher prevalence of GM2 gangliosidoses (B variant), mucolipidoses (II and III), Niemman-Pick type C and metachromatic leukodystrophy (MLD), and a lower prevalence of Pompe and Fabry. The highest prevalence value for a single LSD is the one of GM2 gangliosidoses (B variant), corresponding to 3/100000, a value which is significantly higher than the prevalence of the most frequent LSD in Dutch, Pompe disease (2/100000) and Australians, Gaucher's disease (GD) (1.8/100000). It is worth noting that the highest prevalence of GM2 gangliosidoses found in the Portuguese is mainly due to the existence of a unique subtype, the rare juvenile B1 variant.
PMID: 14685153 [PubMed - indexed for MEDLINE]
Março
Amyloid. 2004 Mar;11(1):27-37.
End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: presentation, survival and prognostic factors.
Lobato L, Beirao I, Silva M, Fonseca I, Queiros J, Rocha G, Sarmento AM, Sousa A, Sequeiros J.
Department of Nephrology, Hospital Geral de Santo Antonio, UnIGENe, Institute for Molecular and Cell Biology, Centro de Estudos de Paramiloidose, Porto, Portugal. llobato@netcabo.pt
Classical familial amyloid polyneuropathy may have a course with progressive renal impairment. We studied 62 patients (24 males, 38 females) with FAP, transthyretin variant V30M, and end-stage renal disease (ESRD) treated with hemodialysis, all referred to a single center over a period of 11 years. Clinical course, morbidity and survival after dialysis were analyzed. Patient's mean age at first dialysis was 51.5 +/- 10.7 years, and mean duration of neuropathy was 10.2 +/- 3.8 years. The most frequent form of presentation of FAP nephropathy was nephrotic proteinuria with renal dysfunction. In the year prior to dialysis, renal function declined rapidly, and fluid overload was the main indication to initiate treatment. The presence of decubitus ulcers, significant disability, venous catheter for definitive vascular access for long-term treatment, and permanent bladder catheter, were related to death during the first year of dialysis. The mean duration of renal replacement therapy was 21 months, with a 54.5% one year, and 38.4% two year treatment survival. However, when the duration of neurological symptoms at first dialysis exceeded 10 years, survival was significantly lower. Infections, (41% were decubitus ulcers with sepsis) were the cause of early, as well as late mortality. Early creation of vascular access for hemodialysis, surveillance of skin wounds, and intervention on neurogenic bladder are essential to improve the prognosis of ESRD in FAP.
PMID: 15185496 [PubMed - in process]
Mov Disord. 2004 Mar;19 Suppl 8:S129-36.
Clinical comparability of marketed formulations of botulinum toxin. Sampaio C, Costa J, Ferreira JJ.
Laboratory of Clinical Pharmacology and Therapeutics, Lisbon School of Medicine, Lisbon, Portugal. crissampaio@mail.telepac.pt
The majority of pharmaceutical products are patented in early phases of their discovery to preclude competition by similar products. Due to unusual circumstances (botulinum toxin is an unpatentable natural product and it is considered to be a biological weapon), technology know-how for botulinum toxin production was classified rather then available in the scientific community. Botulinum toxin type A was marketed in two pharmaceutical distinct formulations from competitor companies. Serendipity proved that the two formulations were not equipotent in terms of mouse units. From a regulatory point of view, differences in potency of distinct formulations are not a matter of concern because each formulation is licensed based on its own set of data. As far as the data in each case is sufficient to prove that a particular formulation is safe and efficacious at its defined dosage, a license for use can be granted. On the other hand, generation of data on comparability is the only way that clinicians and managers can ascertain which product (formulation, serotype) is most cost-effectiveness and to determine whether there are relevant differences in their safety profiles. The results of the systematic review of head-to-head randomised trials comparing BOTOX to Dysport suggest that the two formulations are not bioequivalent whatever the dose relationship. Data on comparative immunogenicity are not available. The indirect comparison of the results obtained in randomised clinical trials comparing BOTOX to placebo and Dysport to placebo support that intrinsic differences are present in the two products. It is concluded that comparative economic evaluations of different botulinum toxin formulations should move away from cost- minimization approaches based on the presumption of bioequivalence and move toward cost-effectiveness or cost-utility models. Copyright 2004 Movement Disorder Society
PMID: 15027065 [PubMed - indexed for MEDLINE] Nat Genet. 2004 Mar;36(3):225-7.
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Moreira MC, Klur S, Watanabe M, Nemeth AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schols L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M'Zahem A, Dunne E, Bomont P, Benhassine T, Bouslam N, Stevanin G, Brice A, Guimaraes J, Mendonca P, Barbot C, Coutinho P, Sequeiros J, Durr A, Warter JM, Koenig M.
IGBMC (Centre National de la Recherche Scientifique, Institut National de la Sante et de la Recherche Medicale, ULP) 67404 Illkirch, C.U. de Strasbourg, France.
Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP). Ten of the fifteen mutations cause premature termination of a large DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination.
PMID: 14770181 [PubMed - indexed for MEDLINE] Brain. 2004 Apr;127(Pt 4):759-67.
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.
Le Ber I, Bouslam N, Rivaud-Pechoux S, Guimaraes J, Benomar A, Chamayou C, Goizet C, Moreira MC, Klur S, Yahyaoui M, Agid Y, Koenig M, Stevanin G, Brice A, Durr A.
Federation de Neurologie, Hopital Pitie-Salpetriere AP-HP, Paris, France.