Encontrados 412 documentos, a visualizar página 1 de 42

Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study.

Dynamic myelopathy in Hirayama disease

Nutritional composition, antioxidant activity and phenolic compounds of wild Ta...

Flowers and vegetative parts of wild Taraxacum identified as belonging to sect. Ruderalia were chemically characterized in nutritional composition, sugars, organic acids, fatty acids and tocopherols. Furthermore, the antioxidant potential and phenolic profiles were evaluated in the methanolic extracts, infusions and decoctions. The flowers gave higher content of sugars, tocopherols and flavonoids (mainly luteol...

Nutritional and antioxidant contributions of Laurus nobilis L. leaves: would b...

Medicinal and aromatic plants are used since ancient times in folk medicine and traditional food, but also in novel pharmaceutical preparations. The controversy lies in the use of cultivated and/or wild plants presenting both advantages and disadvantages in biological, ecological but also economic terms. Herein, cultivated and wild samples of Laurus nobilis L. were chemically characterized regarding nutritional...

Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations...

Pathogenic mutations in genes COL4A3/COL4A4 are responsible for autosomal Alport syndrome (AS) and thin basement membrane nephropathy (TBMN). We used Sanger sequencing to analyze all exons and splice site regions of COL4A3/COL4A4, in 40 unrelated Portuguese probands with clinical suspicion of AS/TBMN. To assess genotype-phenotype correlations, we compared clinically relevant phenotypes/outcomes between homozygo...

Gitelman syndrome

Hypokalaemia is a common clinical disorder, the cause of which can usually be determined by the patient's clinical history. Gitelman syndrome is an inherited tubulopathy that must be considered in some settings of hypokalaemia. We present the case of a 60-year-old male patient referred to our nephrology department for persistent hypokalaemia. Clinical history was positive for symptoms of orthostatic hypotension...

Agro-food industry residues for biodiesel production: BIOFFA project

The aim of the project BIOFFA is to develop processes for the production of biofuels from residual raw-materials with high free fatty acid (FFA). In technological terms, two distinct approaches, leading to different final products, are being assessed: production of fatty acid methyl esters (FAME) – biodiesel, and hydrogenated oil – H-oil. Different residues available in Portugal, including poultry fat, cattle f...

Pâncreas anular - um caso clínico

Introdução: O pâncreas anular é uma anomalia do desenvolvimento rara, representando 1% das obstruções intestinais neonatais. Caso Clínico: Apresentamos um caso de obstrução duodenal diagnosticado em ecografia de rotina às 32 semanas de gestação. O sinal ecográfico da “dupla bolha” foi o único achado, tendo este persistido até à data do parto, às 39 semanas. O diagnóstico de pâncreas anular foi feito ao terceiro...

Sea warming affects bream (Sparus aurata) tissues and stress proteins (HSP70)

The aim of the present study is to assess the stress response of a marine fish, sea bream (Sparus aurata) exposed to increasing water temperature and different water acidity (alone or in combination). Here we present preliminary data on temperature effects on S. aurata at a cellular and molecular level. In addition, tissue samples from muscle, livers, gills and intestine are examined to evaluate any alterations...

Does Pro12Ala polymorphism enhance the physiological role of PPARy2?

Obesity and type 2 diabetes mellitus (T2D) are two major public health problems that have motivated the scientific community to investigate the high contribution of genetic factors to these disorders. The peroxisome proliferator activated by gamma 2 (PPARy2) plays an important role in the lipid metabolism. Since PPARy2 is expressed mainly in adipose tissue, a moderate reduction of its activity influences the se...