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Influence of functional variations in genes of neurotrophins and neurotransmitt...

Fevereiro-Martins, Mariza; Santos, Ana Carolina; Marques-Neves, Carlos; Guimarães, Hercília; Bicho, Manuel

Retinal neurodevelopment, vascularization, homeostasis, and stress response are influenced by factors such as nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), tyrosine hydroxylase (TH), and erythropoietin (EPO). As retinopathy of prematurity (ROP) is a neurovascular retinal disease, this study analyzed the contributions of NGF (rs6330), BDNF (rs7934165), TH (rs10770141), and EPO (rs507392) g...


The interplay between HPV, other sexually transmissible infections and genital ...

Gonçalves-Nobre, J. Guilherme; Matos, Andreia; Carreira, Mariana; Santos, Ana Carolina; Veiga, Luisa; Ginete, Catarina; Brito, Miguel; Pires, Marina

Background: The importance of Cervicovaginal Microbiota in protecting against infections (such as HPV) is already well established, namely through Lactobacillus spp., as well as the mechanism through which HPV leads to Cervical Neoplasia. However, it is not possible to classify HPV as a complete carcinogen. Thus, the importance of exploring Cervicovaginal dysbiosis to decipher this interaction with HPV takes on...


The interplay between HPV, other sexually transmissible infections and genital ...

Gonçalves Nobre, José Guilherme; Matos, Andreia; Carreira, Mariana; Santos, Ana Carolina; Veiga, Luisa Carvalho; Ginete, Catarina; Brito, Miguel

Background: The importance of Cervicovaginal Microbiota in protecting against infections (such as HPV) is already well established, namely through Lactobacillus spp., as well as the mechanism through which HPV leads to Cervical Neoplasia. However, it is not possible to classify HPV as a complete carcinogen. Thus, the importance of exploring Cervicovaginal dysbiosis with the intention of deciphering this interac...


Contribution of haptoglobin phenotypic variation to the presence of hyperhomocy...

Ferreira, Isabel; Bicho, Manuel; Valente, Ana

Background/aim: The genetic polymorphism of haptoglobin (Hp) has been associated with several cardiovascular risk factors, but a possible relationship between Hp phenotypic variation and increased levels of homocysteine (Hcy) and cysteine (Cy) is still unknown. The objective of this study is to evaluate the relationship between the Hp polymorphism and hyperhomocysteinemia (HHcy) and hypercysteinemia (HCy) in ty...


The contribution of precision nutrition intervention in subfertile couples

Monteiro, Jéssica; Bicho, Manuel; Valente, Ana

Background/aim: Subfertility is characterized by a decrease in reproductive efficiency, which can result in delayed pregnancy, and affects one in six individuals during their lifetime. The present narrative review aims to evaluate the contribution of precision nutrition to changes in fertility in subfertile couples. Methods: The literature review was carried out through bibliographic research in the PubMed, Sco...


Leiomyoma and the importance of genetic variation on genes related to the vascu...

Inácio, Angela; Aguiar, Laura; Rodrigues, Beatriz; Pires, Patrícia; Ferreira, Joana; Bilhim, Tiago; Pisco, João; Bicho, Manuel; Bicho, Maria Clara

Objective: The link between the systemic vasculature system and tumor biology is here investigated by studying the contribution of CβS (844ins68), MTHFR (677C > T), NOS3 (4a/4b), CYBA (C242T), and ACE1 (I/D) genes to leiomyoma onset, uterus and leiomyoma volumes. Methods: DNA samples from 130 women with leiomyomas and 527 from healthy women were genotyped by PCR or PCR-RFLP. Qui-square (χ2) or Fisher's exact te...


Hepatitis C Virus infection, iron metabolism, liver fibrosis and response to Di...

Ferreira, Joana; Faustino, Paula; Bicho, Manuel; Serejo, Fátima

Introduction: Chronic Hepatitis C (CHC) is characterized by hepatic and extra-hepatic manifestation. Among hepatic manifestations, liver fibrosis is probably the most significant as it can lead to cirrhosis, hepatocellular carcinoma and death. Iron overload is one of the extra-hepatic manifestations induced by Hepatitis C Virus (HCV) infection and can induce fibrosis-promoting signals in the parenchymal and non...


Mixed methemoglobinemia, congenital and acquired

Murinello, António; Bicho, Manuel; Estrela Inácio, Rosa; Loureiro, Maria Conceição

The   authors present  a case of acute methaemoglobinaemia of mixed aetiology - congenital and acquired. Excessive cutaneous absorption of aniline dye was the causal factor, but an associated moderate defect in cytochrome-b reductase as well as a glucose-6-phosphate dehydrogenase (G6PD) deficiency aggravated the clinicai course of the disease. Therapy with methylene blue was effective, but it cau...


Methemoglobinemia

Murinello, António; Bicho, Manuel; Estrela Inácio, Rosa; Loureiro, Maria Conceição

Methemoglobinemia refers to the existence of high blood concentrations of methemoglobin, resulting from the oxidation offerrous iron to ferric iron within the hemoglobin molecule. An extensive review of methemoglobinemia is done, initiaJJy focusing on physiological enzymatic mechanisms of oxidation/ reduction of hemoglobin, referring its efficacy in pathologic methemoglobinemia. Methe­ moglobinemia causes tissu...


Influence of the TAS2R38 gene single nucleotide polymorphisms in metabolism and...

Mendes Costa, Marta; Silva, Alda Pereira da; Santos, Ana Carolina; Ferreira, Joana; Mascarenhas, Mário Rui; Bicho, Manuel; Barbosa, Ana

The gene TAS2R38 single nucleotide polymorphisms (SNPs-P49A, A262V and V296I) can condition bitter tasting by PAV (proline–alanine–valine) and non-bitter-tasting by AVI (alanine–valine–isoleucine) homozygosity. We evaluated this polymorphisms association with thyroid function, metabolism and anthropometry parameters determined by: Endpoint analysis (SNPs); DXA (fat mass-%, total fat mass—kg, lean mass—kg); Stan...


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