14 documents found, page 1 of 2
Horizontal migration of zooplankton in lake–wetland interfaces. Can temperature...
Pereira, Joana Luísa; Lopes, Ana Sofia; Silva, Júlia; Vidal, Tânia; Abrantes, Nelson; Santos, Daniela; Brito, Moisés; Ferreira, Rui M. L.Lake ecology can be affected by exchange flows driven by horizontal temperature gradients in lake–wetland interfaces. In this work, we investigate the hypothesis that thermally driven flows modulate the horizontal migration patterns of freshwater zooplankters. A 48-h field campaign in a shallow lake (Lake Vela, Quiaios, Portugal) was carried out to test this hypothesis. Thermal differences between the littoral ...
Hospitalisation and Disease Severity Alter the Resting Pattern of Horses
Oliveira, Tiago; Santos, Amanda; Silva, Júlia; Trindade, Pedro [UNESP]; Yamada, Ana; Jaramillo, Fernando; Silva, Luis; Baccarin, RaquelMade available in DSpace on 2022-04-28T19:48:49Z (GMT). No. of bitstreams: 0 Previous issue date: 2022-03-01; In humans, hospitalisation, disease type, and environmental factors evidently affect the quality of sleep, further influencing patient recovery. The objective of the present study was to report the resting and lying behaviour of hospitalised horses, and whether lying behaviours differ depending on the p...
Effect of exercise on phase angle in cancer patients: a systematic review
Martins, Alexandre; Oliveira, Rafael; Brito, João; Costa, Tiago; Silva, Júlia; Ramalho, Fátima; Santos-Rocha, RA; Pimenta, NunoINTRODUCTION: Body composition is one of the main variables of interest in clinical practice in cancer patients. Specific markers from bioelectrical impedance analysis, such as phase angle (PhA), have been assuming increasing relevance in this population. The aim of the present systematic review was to study and systematise the effect of exercise on PhA in cancer survivors, as compared to control conditions, na...
Molecular diagnosis of CYP21A2 gene in affected cases with congenital adrenal h...
Gomes, Susana; Silva, Júlia; Pereira-Caetano, Iris; Gonçalves, João; Gomes, SusanaCongenital Adrenal Hyperplasia (CAH) can be due to one of seven different enzymes involved in the synthesis of cortisol. Deficiency in 21-hydroxylase (21-OHD) is responsible for 90 – 95% of the CAH cases. The clinical symptoms of CAH are directly related with 21-OH activity which is associated with the CYP21A2 genotype. CYP21A2 gene cluster is prone to genetic recombination events leading to a wide variety of c...
Congenital adrenal hyperplasia in paediatric age: molecular analysis of the CYP...
Gomes, Susana; Silva, Júlia; Pereira-Caetano, Iris; Lopes, Lurdes; Limbert, Catarina; Amaral, Daniela; Pina, Rosa; Kay, Teresa; Sampaio, LurdesIntroduction: Congenital adrenal hyperplasia(CAH) is due to 21-hidroxilase deficiency(21-OHD) in about 95% of the cases. 21-OH is encoded by CYP21A2 gene, and most frequent mutations occurring in CYP21A2 are due to gene conversions originated from its pseudogene(CYP21A1P). The clinical severity of CAH is associated with the impairment of 21-OH activity, which is directly related with the molecular defect. CAH i...
CYP21A2 gene duplication with a severe pathogenic variant is a benign allele th...
Gomes, Susana; Silva, Júlia; Pereira-Caetano, Iris; Gonçalves, JoãoIntroduction: Congenital Adrenal Hyperplasia (CAH), one the most common autosomal recessive disorders, is regularly managed during genetic counselling (GC). The coding gene (CYP21A2) for 21-hydroxylase (21-OH), is located (in cis) with its pseudogene (CYP21A1P) in the RCCX cluster (6p21.3) and, the most common structure of this cluster comprises a single copy of each one. However, genotypes associated with CYP2...
Hiperplasia Suprarrenal Congénita - importância da análise molecular no diagnós...
Gomes, Susana; Caetano, Iris; Silva, Júlia; Gonçalves, JoãoA hiperplasia suprarrenal congénita (CAH) é uma doença autossómica recessiva que ocorre devido a redução, mais ou menos pronunciada, da biossíntese suprarrenal de cortisol. Esta redução pode dever-se a defeitos enzimáticos da esteroidogénese os quais estão também associados a androgénios em excesso. A CAH mais frequente (~ 95% dos casos) deve-se a deficiência em 21-hidroxilase (21-OH, enzima codificada pelo gen...
Molecular analysis of KAL-1 and GnRHR genes in patients with idiopathic hypogon...
Pereira-Caetano, Iris; Silva, Júlia; Kay, Teresa; Mirante, Alice; Aragüés, José Maria; Mascarenhas, Mário; Gonçalves, JoãoIntroduction: Idiopathic hypogonadotropic hypogonadism (IHH) comprises delayed/absent puberty, infertility and low serum gonadotropins in the context of normal anterior pituitary anatomy and function. Is due to partial/complete absence of gonadotropin-releasing hormone release/action or gonadotropin secretion and its incidence is low (1/10.000-1/86.000) with a nearly 4:1 male-to-female ratio. Approximately two-...
AZF midrodeletions screening in infertile men of the Portuguese population
Pereira, Iris; Silva, Júlia; Correia, Sónia; Pinto, Maria Graça; Rangel, Ricardo; Aguiar, Ana; Nunes, Joaquim; Calhaz Jorge, Carlos; Gonçalves, JoãoAnalysis of genetic conditions associated with male infertility is, at present days, restricted to chromosome analysis, AZF Y-chromosome microdeletions screening, and to patients with hypogonadotrophic hypogonadism or with congenital absence of the vas deferens. Among different populations AZF microdeletions can explain 10-15% of the infertile phenotype of azoospermic men and 2-5% of oligozoospermic men. Here w...
Pesquisa de microdeleções AZF em homens inférteis na população portuguesa
Pereira-Caetano, Iris; Silva, Júlia; Correia, Sónia; Pinto, Maria Graça; Rangel, Ricardo; Aguiar, Ana; Nunes, Joaquim; Calhaz, Carlos; Gonçalves, JoãoA infertilidade conjugal, definida como a incapacidade de conceção de um casal ao fim de um ano de relações sexuais desprotegidas, afeta 10 a 15% dos casais em idade reprodutiva, sendo que as causas masculinas constituem 30 a 40% das causas de infertilidade dos casais. Etiologicamente, a infertilidade masculina pode ter origem genética e não genética. De entre as causas genéticas mais frequentes destacam-se as ...