Andes pediatrica : revista Chilena de pediatria最新文献

Inherited Bone Marrow Failure syndromes account for approximately 25% of cases of aplastic anemia in pediatric patients. Next-generation sequencing (NGS) technologies have allowed the diagnosis of an increasing number of hereditary causes of bone marrow failure.

Objective: To determine the diagnostic yield and clinical concordance of NGS in the diagnosis of a cohort of pediatric patients with bone marrow failure.

Patients and method: Patients included were those aged between 0-17 years with a diagnosis of Bone Marrow Failure Syndrome according to the ICD-10 classification codes, who had undergone a genetic study between 2018 and 2022. The information was obtained from the electronic medical records system. Genomic DNA was isolated and quantified through the Qubit™ 3.0 fluorometer. Regions of interest were selected using a hybridization probe that included the intronic and exonic regions adjacent to the genes included in the panel. Clonal amplification and paired-end sequencing of the selected regions were performed using the Illumina MiSeq™ system. Bioinformatics analysis was performed in alignment with the reference genome (GRCh38). Variants classified as probably pathogenic or pathogenic were confirmed through Sanger sequencing.

Results: Out of 18 patients included, a genetic diagnosis was achieved through NGS in 5 (27.8%) of them: two cases of Fanconi Anemia, two cases of Dyskeratosis Congenita, and one case of TP53- associated bone marrow failure. Clinical concordance was 100%. Two novel variants were found in the FANCA and PARN genes as causing disease.

Conclusions: The use of NGS in patients with bone marrow failure identified the etiology in close to a third of patients of our cohort, with higher yield in patients with a clear clinical diagnosis and syndromic features.

Neonatal screening has been implemented internationally with different protocols and has become the routine method in the preclinical stage. Late diagnosis is associated with more severe symptoms with decreased survival and higher treatment costs.

Objectives: To estimate the incidence of cystic fibrosis; to evaluate the performance of the screening algorithms Immunoreactive Trypsinogen and Pancreatitis-Associated Protein (IRT/PAP) and the IRTxPAP product; to analyze the cut-off value for IRT, PAP, and IRTxPAP, and to establish a methodology for its ongoing evaluation; finally, to evaluate the quality of IRT and PAP measurements.

Patients and method: a neonatal screening protocol was implemented using the IRT/PAP assays plus IRTXPAP product in a 7-year pilot study. Between 2015 and 2021, a total of 371,724 heel dried blood spot samples were collected in maternity and neonatology units from the public healthcare network in 17 hospitals in the Metropolitan Region (RM) and 15 in the Valparaíso Region (RV). 277,245 newborns met the inclusion criteria.

Results: with IRT/PAP plus IRT x PAP the incidence was 1/7,109 NB. The cut-off value and percentiles were established for IRT, PAP, IRT x PAP. The best sensitivity and specificity obtained by ROC analysis gave an IRT value of 48,142 ng/mL (98.8th percentile), PAP of 1.68 ug/L and IRT x PAP of 140ug2/L. The performance of the IRT/PAP detection algorithms, the IRT x PAP product, and the quality of measurements were evaluated.

Conclusion: The results allow us to report that the IRT/PAP plus IRTxPAP protocol can be implemented in Chile, complying with international guidelines, with adequate government funding.

Gender identity is configured from childhood.

Objective: to explore the experience in the construction of a diverse gender in adolescence in its family and social context.

Subject and method: Exploratory qualitative study that used the Grounded Theory method and its analytical techniques of coding, categorization, and constant comparison. 15 semi-structured interviews were conducted with youths aged between 12 and 21 years attending a Specialized Psychopedagogical Center in Medellín, Colombia, plus the contribution of close adult relatives in 3 of the interviews. The ethical requirements for this type of study were met.

Results: The incongruence between body and gender identity begins with an internal conflict that allows the exploration of the self as a task inherent to the individual. Adolescence exacerbates the need for recognition of that identity. This study shows that gender identity is a dynamic process of individual construction, permeated by the family-social context, which is sometimes attacked by imposing hegemonic binary standards (male-female); archetypes that promote discrimination with serious consequences for physical and mental health. Comprehensive management should embrace and facilitate the process of building a diverse gender in adolescence.

Conclusions: The experience of a diverse gender begins in childhood with the feeling of body/gender identity incongruence, and intensifies in adolescence with dysphoria being predominant. Self-acceptance, family support, and the beginning of affirmation are sources of resilience that facilitate full disclosure of a diverse gender.

Positional plagiocephaly is a common pediatric pathology that has been considered as a cosmetic condition, but recently its association with neurodevelopmental delay has been explored.

Objective: To perform a narrative review updating the findings of a 2017 systematic review on plagiocephaly and neurodevelopment.

Methodology: Articles in the MEDLINE, PubMed, Google Scholar, and DeepDyve databases were reviewed, data were extracted from the most relevant studies evaluating their methodological quality. The search terms used were: "plagiocephaly", "positional plagiocephaly", "brachycephaly", "motor skills", "development", "developmental delay", "neurodevelopment", "language acquisition", "psychomotor performance", and "cognition".

Results: The search found 198 articles, of which 14 met the inclusion criteria. A child population aged 4 to 11 months to 8 years was observed. The study highlighted limitations including potential selection bias, use of the same population in several studies, and lack of diagnostic consistency. The results showed a positive association between plagiocephaly and neurodevelopmental delay. The studies of higher methodological quality identified delays in different developmental stages (7, 18, and 36 months, and school-age) and dimensions (motor skills, cognition, behavior, and language).

Conclusion: There is an association between plagiocephaly and neurodevelopmental delay. Primary care professionals should monitor infants with this condition in order to initiate proactive interventions.

Hemodynamically significant patent ductus arteriosus (hs-PDA) in very low birth weight (VLBW) infants continues to be an issue of research regarding the timing of treatment and which would be the most appropriate drug.

Objective: To assess the outcome of prolonged treatment with paracetamol in the closure of hemodynamically significant patent ductus arteriosus in preterm newborns.

Patients and method: Retrospective study in VLBW infants with echocardiographic and clinical diagnosis of hs-PDA who received treatment with intravenous paracetamol at 15 mg/kg every 6 hours for 6 days. At the end of treatment, control echocardiography was performed. To evaluate possible side effects, biochemical tests were performed before and after treatment.

Results: 62 VLBW infants with average weight and gestational age ± SD of 1,094 ± 257 g and 27,9 ± 2,1 weeks, respectively, were evaluated. At the beginning of the treatment, the mean ± SD ductal size was 2,2 ± 0,5mm. The ductal closure rate with the first cycle of treatment was 69.4% (43/62) and with the second cycle, it increased to 87,1% (54/62). Surgical closure was required in 9,7% of the neonates (6/62). An increase in the incidence of retinopathy of prematurity and acute kidney injury was observed in preterm infants whose hs-PDA did not close with the first cycle of paracetamol. Biochemical tests after the treatment showed a significant decrease in creatinine and an increase in platelet count (p < 0,05).

Conclusion: In VLBW infants with hs-PDA, prolonged treatment with intravenous paracetamol does not increase the ductal closure rate compared with the usual 3-day treatment.

Transposition of the great arteries (Dextro-TGA), repaired with physiological correction techniques (atrial switch - Mustard or Senning surgery), can present as a complication the failure of the right ventricle that acts as systemic and, at the same time, deconditioning of the left ventricle, leading to congestive heart failure. In these patients, treatment and recovery options are very limited.

Objective: To describe successful late anatomical correction after ventricular retraining.

Clinical case: Patient diagnosed with Dextro-TGA, with multiple perinatal complications, treated in another institution with Mustard surgery at seven months, who developed refractory heart failure in the postoperative period. Given the option of a heart transplant, pulmonary banding was decided at 11 months of age as a stabilization measure, which subsequently allowed retraining of the left ventricle and led to anatomical correction with removal of the Mustard procedure and successful large artery switch at six years of age. Three years after surgery, the patient maintains good quality of life and functional class II.

Conclusions: In selected cases, such as the one described, ventricular retraining can be a valid option for patients with transposition of the great arteries who have had a previous physiological correction and have developed right ventricular dysfunction (systemic).

Throughout the 20th century, radiographs and fluoroscopies became essential elements to complete clinical evaluation. Images of the most relevant cases, together with their clinical records, were stored in the radiological collections of the hospitals. Over time, the need for physical space due to the emergence of new equipment, together with the digitization of radiographs and their digital storage, put an end to the collections, many of which were lost in a corner of modern X-ray services. That could have been the history of the analog radiological collection of the Hospital Manuel Arriarán, very prolific while its main supporters, Dr. Julio Hasbún Salamé and his successor Dr. Manuel Mena Castro, were active, but then it was forgotten. However, after a great fire occurred in the Hospital Clínico San Borja-Arriarán (HCSBA) in 2021, among the water and debris of the Radiology Department, the boxes containing the Pediatric Radiological Collection were found. Although a large number of images were also affected, an important part was rescued and digitized. The aim of this manuscript is to describe the history of the analog radiological collection of the HCSBA, showing its contribution to numerous manuscripts published in the Revista Chilena de Pediatría, today Andes Pediatrica, in the last century and, through the images, to review a part of the history of Chilean pediatrics and radiology in the last century.

The most frequent cause of nephritic syndrome in the pediatric population is acute post-infectious glomerulonephritis (PIGN). A rare complication is posterior reversible encephalopathy syndrome (PRES), characterized by subcortical vasogenic cerebral edema associated with variable neurological symptoms. The development of autoimmune hemolytic anemia is an atypical clinical presentation.

Objective: To report the coexistence of two unusual and serious extrarenal complications of PIGN and to discuss potential mechanisms involved in their development.

Clinical case: A 4-year-old male patient, with a 5-day history of hematuria and edema, headache, nausea, and vomiting. He was admitted in convulsive status and hypertensive crisis, laboratory showed C3 hypocomplementemia and high titers of Antistreptolysin O, which was interpreted as PIGN. Due to the presence of encephalopathy, PRES secondary to hypertensive emergency was suspected, which was confirmed by brain MRI. He also presented autoimmune hemolytic anemia, with hemoglobin up to 5 g/dL. The treatment was based on antihypertensive therapy, neuroprotective measures, and steroid treatment. He was discharged 31 days after hospitalization and remained asymptomatic 6 months after discharge.

Conclusions: There must be a high suspicion index of PRES before the appearance of nonspecific neurological symptoms during the evolution of a PIGN. The existing anemia on occasion can be autoimmune.

Polycystic Ovary Syndrome (PCOS) is the most common endocrine-metabolic disorder in female adolescents, and it is associated with metabolic, cardiovascular, and reproductive complications. Recent findings also suggest an association with psychiatric pathology, both affected patients and their offspring. In this update, we synthesized the recent literature on mental health in women and adolescents with PCOS through a systematic search in PubMed, Epistemonikos, and Scielo for articles published in the last 5 years. There is a significantly increased risk of anxiety disorders, depression, eating disorders, obsessive-compulsive disorder, bipolar affective disorder, and psychosis in women with PCOS. Additionally, there is a risk of neurodevelopmental disorders, such as autism spectrum disorder and attention deficit and hyperactivity disorder, both affected individuals and their offspring. Hyperinsulinemia and hyperandrogenism could explain part of these associations, affecting the maturation of the central nervous system, especially during intrauterine life and adolescence. Distress due to the physical phenotypic characteristics of the disease could also impact the mental health of patients. There are still not enough studies explaining the origin of this correlation, nor clinical trials that specifically address mental health in these patients. Current evidence suggests the need to actively assess the mental health of these patients and to coordinate the different health teams involved in managing the pathology.