Browsing by Author "Coelho, A"
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- Biomarkers and Genetic Modulators of Cerebral Vasculopathy in Sub-Saharan Ancestry Children With Sickle Cell AnemiaPublication . Silva, M; Vargas, S; Coelho, A; Ferreira, E; Mendonça, J; Vieira, L; Maia, R; Dias, A; Ferreira, T; Morais, A; Soares, IM; Lavinha, J; Silva, R; Kjöllerström, P; Faustino, PWe investigated biomarkers and genetic modulators of the cerebral vasculopathy (CV) subphenotype in pediatric sickle cell anemia (SCA) patients of sub-Saharan African ancestry. We found that one VCAM1 promoter haplotype (haplotype 7) and VCAM1 single nucleotide variant rs1409419_T were associated with stroke events, stroke risk, as measured by time-averaged mean of maximum velocity in the middle cerebral artery, and with high serum levels of the hemolysis biomarker lactate dehydrogenase. Furthermore, VCAM-1 ligand coding gene ITGA4 variants rs113276800_A and rs3770138_T showed a positive association with stroke events. An additional positive relationship between a genetic variant and stroke risk was observed for ENPP1 rs1044498_A. Conversely, NOS3 variants were negatively associated with silent cerebral infarct events (VNTR 4b_allele and haplotype V) and CV globally (haplotype VII). The -alpha3.7kb-thal deletion did not show association with CV. However, it was associated with higher red blood cell and neutrophil counts, and lower mean corpuscular volume, mean corpuscular hemoglobin and red cell distribution width. Our results underline the importance of genetic modulators of the CV sub-phenotype and their potential as SCA therapeutic targets. We also propose that a biomarker panel comprising biochemical, hematological, imaging and genetic data would be instrumental for CV prediction, and prevention.
- Congenital Malformations of the Female Genital Tract: a Review of Available Classification SystemsPublication . Pereira Amaral, P; Ambrósio, P; Coelho, A; Condeço, R; Bello, A; Djokovic, DCongenital malformations of the female genital tract are being diagnosed more frequently due to advances in imaging techniques. A broad international consensus on their classification is still lacking. This paper aimed to comparatively summarize the most frequently and widely used, as well as the most recently developed classification systems of congenital female genital malformations. A non-systematic review was done through a search on major databases with the medical subject heading (MeSH) term ‘‘congenital abnormalities” in combination with ‘‘classification” and ‘‘female genitalia”. All available systems, including, among others, the American Fertility Society Classification (1988), the Acien and Acien classification (1992, 2004), the VCUAM system (2005), the European Society for Human Reproduction and Embryology - European Society for Gynecological Endoscopy classification (2013), the Congenital Uterine Malformation Experts (CUME) group recommendations, and the American Society for Reproductive Medicine Classification (2021) possess the advantages and disadvantages listed in this article. Regarding the most common situations, the criteria for differentiating physiologic arcuate and discrete partial septate uteri vary widely between classifications, while difficulties also persist with the rarer complex abnormalities that cannot be easily classified, contributing to a gap in clinical and research protocols. The main factor compromising any attempt to reach an ideal classification system is the lack of evidence-based data, justifying the need for comparative multicenter international randomized control trials in this field. Pending new research data and a broad international consensus, it seems essential for adequate patient orientation to describe each detected malformation in detail and to correlate it with the clinical presentation, regardless the type of classification used.
- Fluoroscopia na Remoção de Implantes Profundos de EtonogestrelPublication . Coelho, A; Isidro Amaral, P; Silveira Reis, I; Machado, AIA fluoroscopia é uma técnica de imagem que permite obter imagens em tempo real com recurso a raio-X. Apesar de descrita na literatura a utilização da fluoroscopia em diversas áreas da medicina, em determinadas especialidades esta técnica permanece pouco difundida. Neste sentido, os dois casos clínicos descritos demonstram o sucesso na extração de implantes radiopacos de etonogestrel profundos através do uso da fluoroscopia, revelando-se uma técnica promissora alternativa ou complementar às técnicas convencionais utilizadas, o raio-X e a ecografia. A fluoroscopia tem um perfil de segurança elevado com uma fácil curva de aprendizagem, pelo que o seu domínio pelas especialidades envolvidas na remoção de implantes poderá contribuir para a resolução de casos mais complexos de extração de implantes subcutâneos.
- Genetic Modulators of Fetal Hemoglobin Expression and Ischemic Stroke Occurrence in African Descendant Children With Sickle Cell AnemiaPublication . Nicolau, M; Vargas, S; Silva, M; Coelho, A; Ferreira, E; Mendonça, J; Vieira, L; Kjöllerström, P; Maia, R; Silva, R; Dias, A; Ferreira, T; Morais, A; Soares, IM; Lavinha, J; Faustino, PSickle cell anemia (SCA) is an autosomal recessive monogenic disease with significant clinical variability. Cerebrovascular disease, particularly ischemic stroke, is one of the most severe complications of SCA in children. This study aimed to investigate the influence of genetic variants on the levels of fetal hemoglobin (Hb F) and biochemical parameters related with chronic hemolysis, as well as on ischemic stroke risk, in ninety-one unrelated SCA patients, children of sub-Saharan progenitors. Our results show that a higher Hb F level has an inverse relationship with the occurrence of stroke, since the group of patients who suffered stroke presents a significantly lower mean Hb F level (5.34 ± 4.57% versus 9.36 ± 6.48%; p = 0.024). Furthermore, the co-inheritance of alpha-thalassemia improves the chronic hemolytic pattern, evidenced by a decreased reticulocyte count (8.61 ± 3.58% versus 12.85 ± 4.71%; p < 0.001). In addition, our findings have confirmed the importance of HBG2 and BCL11A loci in the regulation of Hb F expression in sub-Saharan African SCA patients, as rs7482144_A, rs11886868_C, and rs4671393_A alleles are significantly associated with a considerable increase in Hb F levels (p = 0.019, p = 0.026, and p = 0.028, respectively). Concerning KLF1, twelve different variants were identified, two of them novel. Seventy-three patients (80.2%) presented at least one variant in this gene. However, no correlation was observed between the presence of these variants and Hb F level, severity of hemolysis, or stroke occurrence, which is consistent with their in silico-predicted minor functional consequences. Thus, we conclude that the prevalence of functional KLF1 variants in a sub-Saharan African background does not seem to be relevant to SCA clinical modulation.
- Pregnancy after Bariatric SurgeryPublication . Matos Ferraz, T; Pinto, L; Coelho, A; Braga, A; Nunes, I; Cardoso, G; Gonçalves, H; Marques, I; Carvalho Afonso, M; Rodrigues, T
- Transthyretin Amyloidosis: Chaperone Concentration Changes and Increased Proteolysis in the Pathway to DiseasePublication . Costa, G; Ribeiro-Silva, C; Ribeiro, R; Gilberto, S; Gomes, R; Ferreira, A; Mateus, E; Barroso, E; Coelho, A; Ponces Freire, A; Cordeiro, CTransthyretin amyloidosis is a conformational pathology characterized by the extracellular formation of amyloid deposits and the progressive impairment of the peripheral nervous system. Point mutations in this tetrameric plasma protein decrease its stability and are linked to disease onset and progression. Since non-mutated transthyretin also forms amyloid in systemic senile amyloidosis and some mutation bearers are asymptomatic throughout their lives, non-genetic factors must also be involved in transthyretin amyloidosis. We discovered, using a differential proteomics approach, that extracellular chaperones such as fibrinogen, clusterin, haptoglobin, alpha-1-anti-trypsin and 2-macroglobulin are overrepresented in transthyretin amyloidosis. Our data shows that a complex network of extracellular chaperones are over represented in human plasma and we speculate that they act synergistically to cope with amyloid prone proteins. Proteostasis may thus be as important as point mutations in transthyretin amyloidosis.
- Vascular Training Does Matter in the Outcomes of Saphenous High Ligation and StrippingPublication . Castro-Ferreira, R; Quelhas, MJ; Freitas, A; Vidoedo, J; Alves Silva, E; Marinho, A; Abreu, R; Coelho, A; Gonçalves Dias, P; Moreira Sampaio, SObjective: Varicose vein (VV) surgery is frequently performed by surgeons without formal vascular training. We aimed to compare the outcomes of the procedure based on the background of the surgeon. Methods: All patients registered with VV surgery between 2004 and 2016 in Portuguese public hospitals were included in the study. Intrahospital outcomes were assessed from this administrative database. A random multicenter sample of 315 patients submitted to saphenous high ligation and stripping (175 patients from six vascular surgery departments and 140 patients from five general surgery divisions) were further queried over the phone, whereby additional nonregistered outcomes were evaluated: preoperative venous ultrasound, impact on quality of life by the 14-item Chronic Venous Insufficiency Quality of Life Questionnaire, visual analogue scale evaluation (score of 1 to 5) of the aesthetic results and general satisfaction, work absence days, and time to return to physical activities. Results: In 13 years, there were 153,382 patients submitted to VV surgery. Of these, 49% were operated on by general surgeons and 40% by vascular surgeons; in 11%, it was not possible to identify the specialty performing the operation. Twenty-three deaths were registered (no differences between groups). In the general surgery group, 14% of patients were hospitalized for more than one night compared with 3% in the vascular group (P < .001). Reintervention rate during the period analyzed was significantly higher in the general surgery group (13.5% vs 8.2%; P < .001). Rate of outpatient surgery was higher in the vascular surgery group (60% vs 36%; P < .001). Phone query revealed similar overall satisfaction and improvement in quality of life in both groups (4.2 vs 4.0 [P = .275] and 35% vs 36% [P = .745], respectively). However, patients operated on by general surgeons reported worse surgical scars (2.8 vs 2.1; P = .007), higher number of residual VVs (2.4 vs 1.7; P = .006), and higher number of days absent from work (40 vs 27 days; P = .005) and took longer to resume physical activities (60 vs 41 days; P = .001). Conclusions: Despite that the majority of VV surgery in Portugal is executed by general surgeons, this study highlights important advantages when it is performed by surgeons with vascular training.