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Chondroepithelial Choristoma: A Rare Cause of Congenital Esophageal Stenosis
No full textinfo:eu-repo/semantics/publishedVersio
Prevalence, Management, and Outcomes of Atrial Fibrillation in Paediatric Patients: Insights from a Tertiary Cardiology Centre.
No full textAtrial fibrillation (AF) is increasingly recognised in paediatric patients, presenting unique challenges in management due to its association with various underlying heart conditions. This study aimed to evaluate the prevalence, management strategies, and outcomes of AF in this population. : A retrospective analysis was conducted at a tertiary paediatric cardiology centre, including patients aged ≤18 years diagnosed with AF between January 2015 and December 2023. The study focused on demographic details, clinical presentations, treatments, and outcomes. Descriptive statistics were employed to assess treatment efficacy, recurrence rates, and complications. : The study included 36 paediatric patients (median age: 15 years, IQR: 13-17; 58% male). Of these, 52.8% had acquired heart disease, 16.7% had congenital heart anomalies, and 16.7% presented with lone AF. The initial management strategies involved electrical cardioversion in 53.3% of patients and pharmacological conversion with amiodarone in 46.7%. Rhythm control therapy was administered to over 80% of the cohort, and 63.9% were placed on oral anticoagulation, predominantly for rheumatic and congenital heart diseases. The overall success rate of rhythm control was 96.2%, with an AF recurrence rate of 3.8%. Ischemic stroke was the most common complication, occurring in three patients, all with underlying rheumatic heart disease. : AF in paediatric patients is predominantly associated with rheumatic and congenital heart diseases, though a significant proportion of patients present with lone AF. Despite effective rhythm control in most cases, neurological complications, particularly ischemic strokes in patients with underlying heart disease, remain a critical concern. These findings underscore the need for more comprehensive studies to better understand the aetiology, risk factors, and optimal management strategies for paediatric AF
Cardiovascular Risk in Patients with Chronic Obstructive Pulmonary Disease: A Systematic Review.
No full text: A comprehensive and up-to-date review on cardiovascular disease (CVD) risk in patients with COPD is needed. Therefore, we aimed to systematically review the risk of a range of CVD in patients with COPD. : We searched three databases (Pubmed, Web of Science, SCOPUS) from inception to September 2023 using terms related to COPD and CVD. Observational studies were included if they (1) were conducted in adults with a diagnosis of COPD based on the GOLD criteria, spirometry, physician diagnosis, or review of electronic health records; (2) reported the risk of CVD, namely of myocardial infarction (MI), ischaemic heart disease (IHD), atrial fibrillation (AF), heart failure, cerebrovascular disease, pulmonary hypertension, and peripheral vascular disease, compared with a control population using a measure of risk. A narrative synthesis was used. : Twenty-four studies from 2015 to 2023, mainly from Europe ( = 17), were included. A total of 3,485,392 patients with COPD (43.5-76.0% male; 63.9-73.5 yrs) and 31,480,333 (40.0-55.4% male, 49.3-70.0 yrs) controls were included. A higher risk of CVD in patients with COPD was evident regarding overall CVD, MI, IHD, heart failure, and angina. Higher risks of arrhythmia and AF, stroke, sudden cardiac death/arrest, pulmonary embolism, pulmonary hypertension, and peripheral vascular disease were also found, although based on a small amount of evidence. : Patients with COPD have a higher risk of CVD than the general population or matched controls. This review underscores the need for vigilant and close monitoring of cardiovascular risk in individuals with COPD to inform more precise preventive strategies and targeted interventions to enhance their overall management
Exploring Early DNA Methylation Alterations in Type 1 Diabetes: Implications of Glycemic Control
No full textBackground: Prolonged hyperglycemia causes diabetes-related micro- and macrovascular complications, which combined represent a significant burden for individuals living with diabetes. The growing scope of evidence indicates that hyperglycemia affects the development of vascular complications through DNA methylation.
Methods: A genome-wide differential DNA methylation analysis was performed on pooled peripheral blood DNA samples from individuals with type 1 diabetes (T1D) with direct DNA sequencing. Strict selection criteria were used to ensure two age- and sex-matched groups with no clinical signs of chronic complications according to persistent mean glycated hemoglobin (HbA1c) values over 5 years: HbA1c8% (N=10).
Results: Between the two groups, 8385 differentially methylated CpG sites, annotated to 1802 genes, were identified. Genes annotated to hypomethylated CpG sites were enriched in 48 signaling pathways. Further analysis of key CpG sites revealed four specific regions, two of which were hypermethylated and two hypomethylated, associated with long non-coding RNA and processed pseudogenes.
Conclusions: Prolonged hyperglycemia in individuals with T1D, who have no clinical manifestation of diabetes-related complications, is associated with multiple differentially methylated CpG sites in crucial genes and pathways known to be linked to chronic complications in T1D
The Use of Two or More Courses of Low-Dose Systemic Dexamethasone to Extubate Ventilator-Dependent Preterm Neonates May Be Associated with a Higher Prevalence of Cerebral Palsy at Two Years of Corrected Age.
No full textBackground: Our objective was to determine whether the use of two or more courses of low-dose systemic dexamethasone for extubation of ventilator-dependent preterm infants after the first week of life, as proposed in the DART study, is associated with greater neurodevelopmental harm at two years of corrected age, compared to a single course.
Methods: Retrospective review at seven level III neonatal intensive care units. Preterm infants who underwent only one course of systemic dexamethasone for extubation were grouped into DART-1; those who underwent two or more courses were grouped into DART-2. Data and outcomes of infants in DART-2 were compared with those in DART-1.
Results: 150 preterm infants were studied: 104 in DART-1 and 46 in DART-2. Patients in DART-2 had a lower gestational age (25 vs. 26 weeks, p = 0.031) and greater morbidity. The average dexamethasone cumulative dose for patients in DART-1 was 0.819 mg/kg, vs. 1.697 mg/kg for patients in DART-2. A total of 14 patients died. The neuromotor and neurosensory assessments at two years of corrected age revealed in the DART-2 survivors, after the multivariate analysis, a higher prevalence of cerebral palsy with functional motor class 2 (OR = 6.837; 95%CI: 1.054-44.337; p = 0.044) and ophthalmological problems requiring the use of glasses (OR = 4.157; 95%CI: 1.026-16.837; p = 0.046).
Conclusions: In this cohort, the use of more than one course of systemic dexamethasone in low doses for extubation of ventilator-dependent premature infants after the first week of life was associated, at two years of corrected age, with a higher prevalence of cerebral palsy with functional motor class 2 and ophthalmological problems requiring the use of glasses
Severe Neonatal Hyperbilirubinaemia in European and Indian Subcontinent Descendent Newborns: a Retrospective Cohort Study
No full textNeonatal hyperbilirubinaemia is more common in Asian-descendent populations, but differences in disease severity are poorly reported. Our study aimed to compare neonatal hyperbilirubinaemia severity between European and Indian subcontinent descendent newborns. We conducted a single-centre retrospective cohort study including newborns admitted with unconjugated hyperbilirubinaemia (January 2016 to December 2021). Patients were followed during admission, comparing those with European ancestry (control group) and Indian subcontinent ancestry (India, Pakistan, Bangladesh and Nepal) (study group). The primary outcome was severe hyperbilirubinemia (TSB > 25 mg/dL, phototherapy > 6 h or need for exchange transfusion [ET]), and the secondary was TSB levels. Adjusted analysis for potential confounding factors was performed using binary logistic regression models. Of 110 newborns included, 27 (24.5%) had Indian subcontinent ancestry. Occurrence of TSB > 25 mg/dL was significantly higher in the study group (22.2% vs. 4.8%, p = 0.006), while no differences were noted in exposure to phototherapy > 6 h and ET therapy. Logistic regression models for confounding factors adjustment showed Indian subcontinent ancestry as an independent risk factor for TSB > 25 mg/dL (OR 7.49, CI 95% [1.23-45.50]). The study group revealed also higher absolute values of TSB both at admission (22.0 mg/dL vs. 19.6 mg/dL, p = 0.013) and at discharge (13.6 mg/dL vs. 11.4 mg/dL, p = 0.005). Conclusion: Our findings suggest that newborns with Indian subcontinent ancestry might show a higher risk for the development of severe hyperbilirubinemia compared to European ancestry newborns. Implementing earlier treatment thresholds in this subset of patients may help prevent severe hyperbilirubinemia. What is Known: • Indian subcontinent descendent populations have high incidence of neonatal hyperbilirubinaemia but data regarding its severity are scarce. What is New: • This article shows that, compared to European descendent newborns, Indian subcontinent descendent newborns might be at higher risk for severe hyperbilirubinaemia
Efficacy of Elexacaftor-Tezacaftor-Ivacaftor in Portuguese Adolescents and Adults with Cystic Fibrosis Carrying Non-F508del Variants
No full textPerceção da Aplicação de Inteligência Artificial na Otorrinolaringologia Portuguesa
No full textIntrodução - As tecnologias de Inteligência Artificial (IA) têm sido capazes de analisar bases de dados de grandes dimensões e posteriormente aplicar esse conhecimento na resolução de problemas clínicos práticos.
Objetivos - Comparar a perceção da aplicação de AI na Otorrinolaringologia, em Portugal, entre a população geral e os profissionais de saúde.
Material e Métodos - Foi realizado um estudo transversal com recurso a um questionário on-line anónimo e de auto-preenchimento. O questionário analisou aspetos relacionados com as áreas de aplicação da IA, nomeadamente diagnóstico, tomada de decisão clínica, procedimentos cirúrgicos e monitorização de doenças crónicas.
Dos 770 participantes adultos (idade igual ou superior a 18 anos), foram excluídos 249 por apresentarem questionários com informações incompletas, sendo selecionados um total de 521.
Resultados - Dos participantes, 60.8% eram do sexo feminino (60,8%), 66.8% tinham entre 26 e 57 anos e 46.4% eram profissionais de saúde. As mulheres preferiram mais frequentemente um ser humano a realizar a monitorização de doenças crónicas (p = 0.024) e cirurgia com baixo risco de vida (p = 0.003). Os elementos de grupos etários
mais jovens (18-25 anos) e mais velhos (>67 anos) preferiram humanos a realizarem a avaliação clínica de sinais e sintomas (p = 0.000), a tomada de decisão terapêutica (p = 0.011) e a criação de planos de reabilitação (p = 0.009). Os profissionais de saúde preferiram mais frequentemente humanos a realizar o seguimento de um tratamento (p =
0.000) ou cirurgias com risco de vida (p = 0.004), em comparação com a população geral.
Conclusões - Este estudo sugere que existem diferenças significativas na percepção da aplicação de IA, dependendo do sexo, da idade e da população em geral versus profissionais de saúde
Optimizing the Use of Renin‑Angiotensin System Inhibition in Advanced Chronic Kidney Disease
No full textChronic kidney disease (CKD) affects millions of people worldwide and is a major public health problem. Renin‑angiotensin system inhibitors are the backbone drugs for preventing CKD progression but have potential side effects, such as hyperkalemia or acute decrease in glomerular filtration rate, which can prevent physicians from starting the drugs, or even lead physicians to stop the drug when already in use in advanced CKD patients. In this review, the principal studies performed on this topic are summarized