6 documents found, page 1 of 1
Evaluation of the thermographic response of the lumbar region in dogs with bila...
Lavrador, C; Alves, J C; Santos, A; Jorge, P; Carreira, L MInfrared thermography is suggested as a method of medical assistance for evaluating anatomical regions where there may be some inflammatory or painful condition that requires immediate medical attention. For this reason, this study aimed to characterize digital thermography of the lumbar region in police working dogs with hip osteoarthritis, 47 dogs with bilateral hip osteoarthritis were evaluated. A thermograp...
Cumulus cell DNA damage linked to fertilization success in females with an ovul...
Rodrigues, B; Sousa, V; Esteves, F; Vale-Fernandes, E; Costa, S; Sousa, D; Brandão, R; Leal, C; Pires, J; Gaivão, I; Teixeira, JP; Nogueira, AJAIntracytoplasmic sperm injection (ICSI) is a widely used technique in fertility centers. ICSI success depends on both nuclear and cytoplasmic oocyte maturation. Cumulus cells, which surround the oocytes, play a pivotal role in oocyte competence. However, the significance of DNA damage in cumulus cells as a marker of fertilization success remains largely unexplored. This study aims to investigate the relationshi...
A first report on the efficacy of a single intra-articular administration of bl...
Alves, JC; Santos, A; Jorge, P; Carreira, L.MiguelBackground: Osteoarthritis represents a signifcant welfare problem for many dogs, with limited therapeutic options other than palliative pain control. To evaluate the efect of the intra-articular administration of blood cell secretome and triamcinolone, 15 dogs with bilateral hip osteoarthritis were randomly assigned to a blood cell secretome (BCSG, n=5), triamcinolone (TG) or their combination group (BCS+TG, n...
Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variant...
Salgado, P; Carvalho, R; Brandão, AF; Jorge, P; Ramos, C; Dias, D; Alonso, I; Magalhães, MBackground: Gordon Holmes syndrome (GHS), characterized by cerebellar ataxia and hypogonadotropic hypogonadism (HH), has been related to recessive mutations in PNPLA6 gene. Aims of the study: Describe one Portuguese family with GHS due to compound heterozygosity of two new PNPLA6 variants. Methods: Report on the clinical presentation, diagnostic and genetic workup to reach GHS diagnosis. Results: The index case...
Contraction of fully expanded FMR1 alleles to the normal range: predisposing ha...
Maia, N; Loureiro, JR; Oliveira, B; Marques, I; Santos, R; Jorge, P; Martins, SFragile X syndrome (FXS), the most common cause of inherited intellectual disability, is due to the expansion over 200 CGGs and methylation of this polymorphic region, in the 5'-UTR (untranslated region) of FMR1 (Xq27.3). We have identified four FXS mosaic males: M1-(CGG)35/(CGG)>200; M2-(CGG)26/(CGG)>200; M3-(CGG)39/(CGG)>200; and M4-(CGG)18/(CGG)125/(CGG)>200. After genotyping their respective mothers, we sug...
LAMA2 Gene Analysis in a Cohort of 26 Congenital Muscular Dystrophy Patients
Oliveira, J; Santos, R; Soares-Silva, I; Jorge, P; Vieira, E; Oliveira, ME; Moreira, A; Coelho, T; Ferreira, JC; Fonseca, MJ; Barbosa, C; Prats, JCongenital muscular dystrophy type 1A (MDC1A) is caused by mutations in the LAMA2 gene encoding laminin-alpha2. We describe the molecular study of 26 patients with clinical presentation, magnetic resonance imaging and/or laminin-alpha2 expression in muscle, compatible with MDC1A. The combination of full genomic sequencing and complementary DNA analysis led to the particularly high mutation detection rate of 96%...