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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...


Genetic modulation of the erythrocyte phenotype associated with retinopathy of ...

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

The development of retinopathy of prematurity (ROP) may be influenced by anemia or a low fetal/adult hemoglobin ratio. We aimed to analyze the association between DNA methyltransferase 3 β (DNMT3B) (rs2424913), methylenetetrahydrofolate reductase (MTHFR) (rs1801133), and lysine-specific histone demethylase 1A (KDM1A) (rs7548692) polymorphisms, erythrocyte parameters during the first week of life, and ROP. In to...


Retinopathy of prematurity: a review of pathophysiology and signaling pathways

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

Retinopathy of prematurity (ROP) is a vasoproliferative disorder of the retina and a leading cause of visual impairment and childhood blindness worldwide. The disease is characterized by an early stage of retinal microvascular degeneration, followed by neovascularization that can lead to subsequent retinal detachment and permanent visual loss. Several factors play a key role during the different pathological st...


Complete blood count parameters as biomarkers of retinopathy of prematurity: a ...

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

Purpose: To evaluate complete blood count (CBC) parameters in the first week of life as predictive biomarkers for the development of retinopathy of prematurity (ROP). Methods: Multicenter, prospective, observational study of a cohort of preterm infants born with gestational age (GA) < 32 weeks or birth weight < 1500 g in eight Portuguese neonatal intensive care units. All demographic, clinical, and laboratory d...


Retinopathy of prematurity: contribution of inflammatory and genetic factors

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

Retinopathy of prematurity (ROP) is a retinal vasoproliferative disorder that represents an important cause of childhood visual impairment and blindness. Although oxidative stress has long been implicated in ROP etiology, other prenatal and perinatal factors are also involved. This review focuses on current research involving inflammation and genetic factors in the pathogenesis of ROP. Increasing evidence sugge...


A Rare Case of a Type IV Laryngotracheal Cleft in Association with VACTERL

Moita, Rita Magalhães; Pissarra, Susana; Spratley, Jorge; Azevedo, Inês; Guimarães, Hercília


The Importance of Autopsy in Early Neonatal Death in Portugal

Miranda, Marlene; Costa, Sandra; Soares, Henrique; Barbosa, Joselina; Flor-de-Lima, Filipa; Rodrigues, Manuela; Guimarães, Hercília

Introduction: The early neonatal period is the most critical for the newborn’s life. The autopsy is important to understand the cause of death, and find other diagnoses not clinically identified. However, the rate of neonatal autopsy is declining worldwide. This study aims to characterize early neonatal death and the clinical importance of the autopsy, evaluating the concordance between clinical and pathologica...

Date: 2020   |   Origin: Acta Médica Portuguesa

Car seat challenge test in the Neonatal Intensive Care Unit

Brás, Ana; Pratinha, Cristina; Oliveira, Susana; Barbieri-Figueiredo, MC; Ramos, Madalena; Guimarães, Hercília

Background: In Portugal, there is a Guideline of the Directorate General of Health that requires that newborns with hospital discharge should be transported home in a proper and safe restraint system, aligned with AAP policy statements. In the Neonatal Intensive Care Unit (NICU) of Centro Hospitalar Universitário de S. João (Porto, Portugal), the Car Seat Challenge Test has been carried out since 2005, and ther...


Being a mother of preterm multiples in the context of socioeconomic disadvantag...

Baptista, Joana; Moutinho, Vanessa Andrade Barbosa; Mateus, Vera Lúcia Esteves; Guimarães, Hercília; Clemente, Fátima; Almeida, Sara

Objective: This study aimed to examine the differences between mothers of preterm multiples and mothers of preterm singletons in perceived stress and maternal psychological symptoms, and to explore the putative adverse amplified effect of socioeconomic disadvantage. Method: Ninety-five mothers of one-year-olds born preterm participated in this cross-sectional study. Data collection was carried out in two public...



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