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  1. Article ; Online: Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort

    Antonio Gónzalez-Meneses / Mercè Pineda / Anabela Bandeira / Patrícia Janeiro / María Ángeles Ruiz / Luisa Diogo / Ramón Cancho-Candela

    Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-

    2021  Volume 9

    Abstract: Abstract Background Mucopolysaccharidosis type VII (Sly syndrome) is an ultra-rare neurometabolic disorder caused by inherited deficiency of the lysosomal enzyme β-glucuronidase. Precise data regarding its epidemiology are scarce, but birth prevalence is ...

    Abstract Abstract Background Mucopolysaccharidosis type VII (Sly syndrome) is an ultra-rare neurometabolic disorder caused by inherited deficiency of the lysosomal enzyme β-glucuronidase. Precise data regarding its epidemiology are scarce, but birth prevalence is estimated to vary from 0.02 to 0.24 per 100,000 live births. The clinical course and disease progression are widely heterogeneous, but most patients have been reported to show signs such as skeletal deformities or cognitive delay. Additionally, detection criteria are not standardized, resulting in delayed diagnosis and treatment. Methods We present a cohort of 9 patients with mucopolysaccharidosis VII diagnosed in the Iberian Peninsula, either in Spain or Portugal. The diagnostic approach, genetic studies, clinical features, evolution and treatment interventions were reviewed. Results We found that skeletal deformities, hip dysplasia, hydrops fetalis, hepatosplenomegaly, hernias, coarse features, respiratory issues, and cognitive and growth delay were the most common features identified in the cohort. In general, patients with early diagnostic confirmation who received the appropriate treatment in a timely manner presented a more favorable clinical evolution. Conclusions This case series report helps to improve understanding of this ultra-rare disease and allows to establish criteria for clinical suspicion or diagnosis, recommendations, and future directions for better management of patients with Sly syndrome.
    Keywords Mucopolysaccharidosis ; Sly syndrome ; Rare disease ; MPS VII ; Medicine ; R
    Subject code 610
    Language English
    Publishing date 2021-10-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Linhas de Pamidronato

    Inês Ferreira / Joana Correia / Anabela Bandeira

    Portuguese Journal of Pediatrics, Vol 46, Iss

    2015  Volume 4

    Keywords Adolescente ; Osteogénese Imperfeita/ radiografia ; Osteogénese Imperfeita/terapia ; Pamidronato ; Pediatrics ; RJ1-570 ; Medicine (General) ; R5-920
    Language English
    Publishing date 2015-10-01T00:00:00Z
    Publisher Sociedade Portuguesa de Pediatria
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: SLC35A2-CDG

    Dulce Quelhas / Joana Correia / Jaak Jaeken / Luísa Azevedo / Mónica Lopes-Marques / Anabela Bandeira / Liesbeth Keldermans / Gert Matthijs / Luisa Sturiale / Esmeralda Martins

    Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100717- (2021)

    Novel variant and review

    2021  

    Abstract: SLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum. Pathogenic variants have been associated to a congenital disorder of ... ...

    Abstract SLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum. Pathogenic variants have been associated to a congenital disorder of glycosylation (CDG) with epileptic encephalopathy as a predominant feature. Among the sixty five patients described so far, a strong gender bias is observed as only seven patients are males. This work is a review and reports a SLC35A2-CDG in a male without epilepsy and with growth deficiency associated with decreased serum IGF1, minor neurological involvement, minor facial dysmorphism, and camptodactyly of fingers and toes. Sequence analysis revealed a hemizygosity for a novel de novo variant: c.233A > G (p.Lys78Arg) in SLC35A2. Further analysis of SLC35A2 sequence by comparing both orthologous and paralogous positions, revealed that not only the variant found in this study, but also most of the reported mutated positions are conserved in SLC35A2 orthologous, and many even in the paralogous SLC35A1 and SLC35A3. This is strong evidence that replacements at these positions will have a critical pathological effect and may also explain the gender bias observed among SLC35A2-CDG patients.
    Keywords CDG ; Congenital disorder(s) of glycosylation ; IGF1 ; Phenotype ; SLC35A2 ; Variant ; Medicine (General) ; R5-920 ; Biology (General) ; QH301-705.5
    Language English
    Publishing date 2021-03-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article ; Online: Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria

    Maria João Pena / Alex Pinto / Manuela Ferreira de Almeida / Catarina de Sousa Barbosa / Paula Cristina Ramos / Sara Rocha / Arlindo Guimas / Rosa Ribeiro / Esmeralda Martins / Anabela Bandeira / Cláudia Camila Dias / Anita MacDonald / Nuno Borges / Júlio César Rocha

    Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-

    a clinical perspective

    2021  Volume 10

    Abstract: Abstract Background In phenylketonuria (PKU), modified casein glycomacropeptide supplements (CGMP-AA) are used as an alternative to the traditional phenylalanine (Phe)-free L-amino acid supplements (L-AA). However, studies focusing on the long-term ... ...

    Abstract Abstract Background In phenylketonuria (PKU), modified casein glycomacropeptide supplements (CGMP-AA) are used as an alternative to the traditional phenylalanine (Phe)-free L-amino acid supplements (L-AA). However, studies focusing on the long-term nutritional status of CGMP-AA are lacking. This retrospective study evaluated the long-term impact of CGMP-AA over a mean of 29 months in 11 patients with a mean age at CGMP-AA onset of 28 years (range 15–43) [8 females; 2 hyperphenylalaninaemia (HPA), 3 mild PKU, 3 classical PKU and 3 late-diagnosed]. Outcome measures included metabolic control, anthropometry, body composition and biochemical parameters. Results CGMP-AA, providing 66% of protein equivalent intake from protein substitute, was associated with no significant change in blood Phe with CGMP-AA compared with baseline (562 ± 289 µmol/L vs 628 ± 317 µmol/L; p = 0.065). In contrast, blood tyrosine significantly increased on CGMP-AA (52.0 ± 19.2 μmol/L vs 61.4 ± 23.8 μmol/L; p = 0.027). Conclusions Biochemical nutritional markers remained unchanged which is an encouraging finding in adults with PKU, many of whom are unable to maintain full adherence with nutritionally fortified protein substitutes. Longitudinal, prospective studies with larger sample sizes are necessary to fully understand the metabolic impact of using CGMP-AA in PKU.
    Keywords Casein glycomacropeptide ; Amino acids ; Nutritional status ; Phenylketonuria ; Phenylalanine ; Tyrosine ; Medicine ; R
    Subject code 571
    Language English
    Publishing date 2021-02-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  5. Article ; Online: Pyruvate dehydrogenase complex deficiency

    Hana Pavlu-Pereira / Maria João Silva / Cristina Florindo / Sílvia Sequeira / Ana Cristina Ferreira / Sofia Duarte / Ana Luísa Rodrigues / Patrícia Janeiro / Anabela Oliveira / Daniel Gomes / Anabela Bandeira / Esmeralda Martins / Roseli Gomes / Sérgia Soares / Isabel Tavares de Almeida / João B. Vicente / Isabel Rivera

    Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-

    updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients

    2020  Volume 14

    Abstract: Abstract Background The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA. PDC deficiency can be caused by alterations in any of the genes encoding its several subunits. The resulting phenotype, ... ...

    Abstract Abstract Background The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA. PDC deficiency can be caused by alterations in any of the genes encoding its several subunits. The resulting phenotype, though very heterogeneous, mainly affects the central nervous system. The aim of this study is to describe and discuss the clinical, biochemical and genotypic information from thirteen PDC deficient patients, thus seeking to establish possible genotype–phenotype correlations. Results The mutational spectrum showed that seven patients carry mutations in the PDHA1 gene encoding the E1α subunit, five patients carry mutations in the PDHX gene encoding the E3 binding protein, and the remaining patient carries mutations in the DLD gene encoding the E3 subunit. These data corroborate earlier reports describing PDHA1 mutations as the predominant cause of PDC deficiency but also reveal a notable prevalence of PDHX mutations among Portuguese patients, most of them carrying what seems to be a private mutation (p.R284X). The biochemical analyses revealed high lactate and pyruvate plasma levels whereas the lactate/pyruvate ratio was below 16; enzymatic activities, when compared to control values, indicated to be independent from the genotype and ranged from 8.5% to 30%, the latter being considered a cut-off value for primary PDC deficiency. Concerning the clinical features, all patients displayed psychomotor retardation/developmental delay, the severity of which seems to correlate with the type and localization of the mutation carried by the patient. The therapeutic options essentially include the administration of a ketogenic diet and supplementation with thiamine, although arginine aspartate intake revealed to be beneficial in some patients. Moreover, in silico analysis of the missense mutations present in this PDC deficient population allowed to envisage the molecular mechanism underlying these pathogenic variants. Conclusion The identification of the disease-causing ...
    Keywords Pyruvate dehydrogenase complex deficiency ; Neurological dysfunction ; Lactic acidosis ; Mutational analysis ; Genotype–phenotype correlation ; Medicine ; R
    Subject code 610 ; 616
    Language English
    Publishing date 2020-10-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  6. Article ; Online: Infecção cutânea grave por Streptococcus pyogenes

    Anabela Bandeira / Rui Almeida / Esmeralda Silva / Guilhermina Reis / Margarida Guedes / Miguel Trigueiros / César Silva / Manuel Tavares / Elsa Calado

    Portuguese Journal of Pediatrics, Vol 37, Iss

    2014  Volume 6

    Abstract: Resumo O tracto respiratório superior e as lesões cutâneas são o local primário de infecção por Streptococcus pyogenes e os principais reservatórios de transmissão. A fasceite necrosante é uma infecção inicial das fáscias e músculos com rápida extensão à ...

    Abstract Resumo O tracto respiratório superior e as lesões cutâneas são o local primário de infecção por Streptococcus pyogenes e os principais reservatórios de transmissão. A fasceite necrosante é uma infecção inicial das fáscias e músculos com rápida extensão à hipoderme e derme reticular e posterior necrose. Apresenta-se o caso de uma criança de dez anos com quadro clínico de fasceite necrosante pós-traumática, complicada de artrite séptica do tornozelo. A discrepância entre a sintomatologia (dor intensa) e os sinais locais pobres conduziram à suspeita clínica de fasceite necrosante, mas a sintomatologia de predomínio vascular e a inexistência de uma porta de entrada levaram à suspeita de uma causa vascular. Os dados laboratoriais e os achados macroscópicos permitiram o diagnóstico. O prognóstico da fasceite necrosante depende essencialmente de um diagnóstico precoce e instituição de terapêutica apropriada: desbridamento cirúrgico agressivo dos tecidos necrosados e antibioterapia.
    Keywords Pediatrics ; RJ1-570 ; Medicine (General) ; R5-920
    Language English
    Publishing date 2014-08-01T00:00:00Z
    Publisher Sociedade Portuguesa de Pediatria
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  7. Article ; Online: A síndrome de Smith-Lemli-Opitz

    Maria Luís Cardoso / Anabela Bandeira / Altina Lopes / Márcia Rodrigues / Margarida Venâncio / Jorge Sales Marques / Patrícia Janeiro / Inês Ferreira / Dulce Quelhas / Silvia Sequeira / Gabriela Soares / Teresa Lourenço / Rosário Rodrigues / Ana Gaspar / Luís Nunes / Franklim Marques / Esmeralda Martins

    Portuguese Journal of Pediatrics, Vol 43, Iss

    características fenotípicas e genotípicas dos doentes portugueses

    2012  Volume 2

    Abstract: A síndrome de Smith-Lemli-Opitz (SLOS) é uma síndrome polimalformativa de transmissão autossómica recessiva causada por um défice metabólico da biossíntese do colesterol, que se caracteriza por dismorfias craniofaciais, anomalias congénitas de vários ... ...

    Abstract A síndrome de Smith-Lemli-Opitz (SLOS) é uma síndrome polimalformativa de transmissão autossómica recessiva causada por um défice metabólico da biossíntese do colesterol, que se caracteriza por dismorfias craniofaciais, anomalias congénitas de vários órgãos (salientando-se as do esqueleto e do aparelho urogenital), restrição de crescimento intra-uterino (RCIU), alterações comportamentais e atraso mental. É causada por mutações no gene DHCR7, que codifica para a enzima 7-dehidrocolesterol reductase, responsável pelo último passo da via metabólica da síntese do colesterol. A SLOS caracteriza-se por níveis diminuídos de colesterol e concentrações altas do seu precursor, 7-dehidrocolesterol, no sangue e tecidos. Procedeu-se a uma análise comparativa dos fenótipo e genótipo de quinze casos de SLOS de origem portuguesa, e são tecidas considerações quanto às dificuldades e limitações inerentes ao diagnóstico, e ao facto de esta doença hereditária do metabolismo dever ser considerada no diagnóstico diferencial das situações de (i) hipocolesterolémia, (ii) RCIU e (iii) síndromes polimalformativas, (especialmente quando crianças com atraso de crescimento apresentam simultaneamente sindactilia do segundo e terceiro dedos do pé e microcefalia e/ou narinas antevertidas entre outras anomalias).
    Keywords Pediatrics ; RJ1-570 ; Medicine (General) ; R5-920
    Language English
    Publishing date 2012-08-01T00:00:00Z
    Publisher Sociedade Portuguesa de Pediatria
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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