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View article: Palliative Care in Epidermolysis Bullosa: Beyond Skin
Palliative Care in Epidermolysis Bullosa: Beyond Skin Open
Generalized severe junctional epidermolysis bullosa (JEB) is the rarest and most severe form of epidermolysis bullosa (EB), often leading to a 90% mortality rate within the first year of life. This case report describes a 35-week premature…
View article: Positive impact on childrenÓ?s quality of life under non-invasive home mechanical ventilation - PedsQL application in a monocentric cohort
Positive impact on childrenÓ?s quality of life under non-invasive home mechanical ventilation - PedsQL application in a monocentric cohort Open
Introduction: In home mechanical ventilated (HMV) children, treatment is not based on cure, but rather on preventing morbidity and mortality and promoting their well-being. This study aimed to evaluate the different dimensions of quality o…
View article: Complex Chronic Disease in Pediatrics – Needs in The Last Year of Life
Complex Chronic Disease in Pediatrics – Needs in The Last Year of Life Open
Published data on hospital use in the last year of life of a child with a life-threatening complex chronic disease (CCD) is scarce yet critical to inform the implementation phase of paediatric palliative care (PPC). We aimed to describe th…
View article: Trisomy 18 – When the Diagnosis Is Compatible With Life
Trisomy 18 – When the Diagnosis Is Compatible With Life Open
Trisomy 18 is an autosomal chromosomal disorder characterized by the presence of an extra 18 chromosome. In the last decades, and as the therapeutic options have become more relevant, the medical community witnessed a paradigm shift on the…
View article: Spinal cord ischaemic injury while playing in a playground
Spinal cord ischaemic injury while playing in a playground Open
Spinal cord ischaemia is a rare condition in children in which imaging diagnosis can be difficult and treatment guidelines are not well established. We describe a case of a previously healthy 13-year-old girl admitted to the emergency depa…
View article: Home Mechanical Ventilation in Children: Impact on the Sleep Quality of Caregivers
Home Mechanical Ventilation in Children: Impact on the Sleep Quality of Caregivers Open
Introduction: The role played by caregivers of children with complex chronic diseases may be influenced by sleep disturbances. This situation may affect long-term quality care for children. This study aimed to evaluate the sleep quality of…
View article: Regional analysis of pediatric admissions with complex chronic conditions in mainland Portugal
Regional analysis of pediatric admissions with complex chronic conditions in mainland Portugal Open
Background The expected rise in the number of children living longer with complex chronic conditions (CCC) and the social relevance of this group prompt the study of the patterns of their inpatient care utilization. We aimed to compare the…
View article: Operationalizing dignity therapy for adolescents
Operationalizing dignity therapy for adolescents Open
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View article: Home mechanical ventilation in complex chronic disease in children – what is the impact on the sleep quality of the caregivers?
Home mechanical ventilation in complex chronic disease in children – what is the impact on the sleep quality of the caregivers? Open
Background The role caregivers of children with complex chronic disease play may be linked to important sleep disturbances, which may threaten the long-term quality care to their children.Aim Evaluation of the sleep quality of the caregive…
View article: Phenotyping GABA transaminase deficiency: a case description and literature review
Phenotyping GABA transaminase deficiency: a case description and literature review Open
Gamma‐aminobutyric acid transaminase (GABA‐T) deficiency is an autosomal recessive disorder reported in only three unrelated families. It is caused by mutations in the ABAT gene, which encodes 4‐aminobutyrate transaminase, an enzyme of GAB…