Anales de pediatria最新文献

Introduction: The management of congenital heart disease (CHD) has evolved, improving patient outcomes; however, challenges persist for patients, emphasizing the importance of assessing health-related quality of life (HRQoL). The widely used Pediatric Quality of Life Inventory underscores the relevance of HRQoL assessment, especially in children subject to medical procedures.

Objective: To evaluate HRQoL in children with congenital heart disease undergoing cardiac catheterization, analysing its association with clinical and sociodemographic variables in a tertiary care hospital.

Materials and methods: We conducted a cross-sectional study in paediatric patients aged 2-18 years undergoing haemodynamic procedures for congenital heart diseases. We used the Pediatric Quality of Life Inventory (PedsQL) to assess HRQoL. The statistical analysis included descriptive statistics, χ² tests, Kruskal-Wallis tests and multivariate linear regression analysis with the aim of identifying factors associated with HRQoL.

Results: The sample included 164 patients, among whom pulmonary atresia and patent ductus arteriosus were frequent diagnoses. Physical functioning and school functioning were significantly impaired, with median scores of 32.14 (IQR, 17.14-62.87) and 56 (IQR, 28-88), respectively. The results were more favourable for emotional functioning and social functioning, with median scores of 62 (IQR, 32-74) and 68 (IQR, 44-100), respectively. Single ventricle defects and pulmonary atresia were associated with lower quality of life scores in emotional functioning (P = .035) and physical functioning (P = .048), respectively.

Conclusion: This study highlights the current challenges in evaluating HRQoL for children with CHD. It identified significant associations between specific diagnoses and decreased HRQoL scores, emphasizing the need for comprehensive care strategies.

Introduction: Patients with achondroplasia present, in addition to disproportionate short stature, multiple manifestations that require a comprehensive approach. The present consensus of experts in Spain responds to the need to establish clear guidelines for the management of achondroplasia with the introduction of a new treatment, vosoritide.

Material and methods: A panel of six experts in achondroplasia participated in the development of the consensus. They developed a narrative review of the recommendations on achondroplasia and vosoritide treatment, which were agreed upon and adapted to the Spanish context in two subsequent meetings with a structured discussion format.

Results: This protocol underscores that achondroplasia requires specialised and multidisciplinary management involving expert paediatricians and specialists in paediatric endocrinology or medical genetics, in collaboration with specialists in neurology, neurosurgery, pneumology, otorhinolaryngology, rehabilitation, and orthopaedics or psychology, among others, with adequate coordination of care. This interdisciplinary team should be involved in the planning of vosoritide treatment (including the education of patients and caregivers, with management of their expectations, and their training in the practical aspects of vosoritide administration), treatment initiation and close monitoring with regular assessment of anthropometric, biochemical, functional or patient-reported variables.

Conclusions: This protocol for the administration of vosoritide will allow standardised implementation and optimization of treatment outcomes. It also offers an opportunity to improve the management of achondroplasia in Spain through a comprehensive and interdisciplinary approach.

Introduction: The mini-CEX is a direct observation of care delivery that provides feedback to the medical resident; and previous studies have confirmed its validity, reliability, feasibility and user satisfaction. Its application in the paediatric emergency care setting is scarce.

Objective: To assess trends in the acquisition of emergency care skills in paediatrics residents through the mini-CEX and determine the satisfaction of participants after its implementation.

Material and methods: Inclusion criteria: paediatrics residents in the first (MIR1) and second (MIR2) year of residency.

Setting: emergency department.

Study period: 4 years (May 2019-May 2023). Evaluated competencies: anamnesis, physical examination, professionalism, clinical judgment, communication, organization-efficiency and global assessment. Number of evaluations: maximum of 6 per resident per year; each evaluation assessed 2-3 competencies (each competency could be evaluated twice per year). The evaluators were adjunct physicians in the emergency department; medical residents were assessed for training purposes. Satisfaction was rated on a scale from 1 to 9.

Results: A total of 217 evaluations were performed on 54 residents (1-9 per resident). The median observation time was 16 min per visit (IQR, 14-25) and the feedback time was 10 min per visit (IQR, 7-15). The median anamnesis, physical examination, clinical judgment, organization-efficacy and global scores were 7 for MR1 and 8 for MRI2 residents (P = .015; P = .001, P = .076, P = .009 and P = .010, respectively). We did not find significant differences in the remaining competencies. The average satisfaction score was 9 for both evaluators and residents.

Conclusions: The acquisition of skills was high; with favourable outcomes observed in MRI2 relative to MRI1. The implementation of the mini-CEX was well accepted among the involved professionals.

Introduction: The impact of acute severe hepatitis of unknown origin in children (SHIC) subject to a medical alert in 2022 medical alert is poorly understood.

Materials and methods: Observational study of the incidence, aetiology and clinical presentation of acute hypertransaminasaemia (HTRA) with laboratory values in the severe range (ALT and/or AST ≥ 500 U/L) in paediatric patients (age 0 to 16 years) in one health care zone from 2012 to 2022, comparing the periods of the SHIC alert and the SARS-CoV2 pandemic with previous years.

Results: The incidence of severe HTRA of any cause was 195.28 per 100 000 blood tests, with an incidence of 181.38 in the SHIC alert period and 166.09 during the SARS-CoV-2 pandemic, without statistically significant differences. Hepatitis of unknown origin accounted for 7.42% of total cases and transaminase levels normalised in 126 days (SD, 99.4). During the SHIC alert period there was a nonsignificant trend towards a higher incidence, as occurred in 2012 and 2018. In this group of cases, there was a significant increase in the presence of fever, vomiting and upper respiratory symptoms and lower levels of albumin and alkaline phosphatase. One patient required a liver transplant.

Conclusions: In our setting, there was no significant increase in the incidence of severe HTRA of any aetiology or of unknown source during either the SHIC alert or the SARS-CoV2 pandemic. In the SHIC alert period, a clinical pattern emerged characterised by an increase in nonspecific infectious symptoms, so we cannot rule out a higher prevalence of an infectious agent different from the usual involved pathogens, but it did not cause a significant change in epidemiological trends.