Browsing by Author "Pinho, Liliana"
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- Instabilidade cromossómica e imunodeficiência - associação essencial no diagnóstico de Síndrome de NijmegenPublication . Correia, Joana; Pinho, Liliana; Guerra, Isabel Couto; Costa, Emília; Cleto, EsmeraldaIntrodução: O Síndrome de Quebras de Nijmegen (SQN), é uma doença autossómica recessiva rara, pertencente ao grupo dos síndromes de instabilidade cromossómica, sendo mais prevalente na europa central e do leste. Caso clínico: Descreve-se o caso de um rapaz de 14 meses, filho de pais ucranianos, que nasceu pequeno para a idade gestacional, com microcefalia e dismorfias faciais, que se tornaram mais evidentes com o crescimento. O estudo complementar revelou instabilidade cromossómica espontânea e induzida, hemoglobina fetal e α-fetoproteína normais e imunodeficiência celular. Estas características sugeriram o diagnóstico de SQN, confirmado pela identificação da mutação fundadora (657del5) em homozigotia, comum na população eslava. Discussão: O SQN deve ser considerado na presença de microcefalia, características faciais típicas, atraso de crescimento, instabilidade cromossómica e imunodeficiência. O prognóstico é desfavorável pela ocorrência de infeções de repetição e elevada incidência de neoplasias. O seguimento multidisciplinar e a evicção da exposição a radiação ionizante são fundamentais.
- Minimally invasive surfactant therapy in preterm infants: towards less invasive managementPublication . Meireles, Daniel; Neiva-Araújo, Luísa; Nascimento, Marta; Pinho, Liliana; Freitas, Ana Cristina; Almeida, Alexandra; Carvalho, Carmen; Proença, ElisaIntroduction: Minimally invasive surfactant therapy (MIST) is a surfactant administration procedure that intends to reduce intubations and associated risks. The aim of this study was to compare MIST with INtubation-SURfactant-Extubation (INSURE) technique. Material and methods: Retrospective analysis (from January 2015 to June 2019) of preterm infants on nasal continuous positive airway pressure (nCPAP) treated with surfactant. Results: Fifty-four preterm infants were included and divided in two groups: MIST (n=34) and INSURE (n=20). No significant differences were found between groups regarding gestational age (p=0.480), birth weight (p=0.299), fraction of inspired oxygen (FiO2) prior to surfactant (p=0.220), oxygen therapy duration (p=0.306), progression to intubation (p=0.712), or length of Neonatal Intensive Care Unit stay (p=0.778). FiO2 variation before and after surfactant administration was higher in MIST group (14% vs 9%, p=0.078). No significant complications were reported with either technique. Conclusions: MIST is a safe technique in preterm infants on nCPAP. This study shows similar outcomes with MIST and INSURE procedures, with a greater reduction in FiO2 requirements with MIST. Overall, MIST is less invasive and as effective as INSURE in preterm infants.
- Shared decisions in neonatal intensive care − bioethical approachPublication . Carvalho, Carmen; Freitas, Ana Cristina; Pinho, Liliana; Novo, AnaTechnological and therapeutic advances in neonatal intensive care have led to a decrease in neonatal morbidity and mortality in recent decades. Along with technical and scientific expertise, it is important to provide a holistic and comprehensive approach to the care of the newborn and family. The purpose of this review is to describe and analyze strategies to improve decision-making within a shared process between health professionals and caregivers at neonatal intensive care setting. The decision-making process is not linear or immutable over time and there is no consensus on the definition of ‘shared decision’. More unanimous is the role of communication as a atherapeutic relationship pillar. Professional ethics, bioethics, and narrative medicine should be used as tools to address the vulnerabilities of families and professionals and as a way to consolidate and structure the human relational dimension intrinsic to medical practice.