Archivos argentinos de pediatria最新文献

In recent years, access to high-performance genetic techniques has allowed new diagnoses to become evident, allowing us to say today that genetic causes represent more than one-third of the etiologies of cholestasis in newborns and infants. When faced with a pediatric patient with cholestasis, with similar clinical and biochemical findings, an early genetic diagnosis will facilitate specific treatment, delay or exclude invasive diagnostic procedures (for example, liver biopsy), and offer genetic counseling to the family. We recently published a classification of genetic cholestasis, considering how the molecular defect affects biliary secretion. In this opportunity, we briefly summarize each of them to facilitate their identification by the pediatrician, who is the first professional to detect them and promptly refer them to a high-complexity center.

Introduction. Acute lower respiratory infections (ALRI) due to respiratory syncytial virus (RSV) are a significant cause of disease. Most of them are treated outpatient without etiological investigation, making it difficult to estimate the disease burden. In 2020, an algorithm was developed to identify consultations for ALRI in electronic health records. We evaluated the algorithm's behavior in patients with RSV ALRI. Methods. The cross-sectional study included children under 5 years of age who consulted for ALRI with viral screening. The algorithm was applied to their health records, calculating diagnostic capacity to identify RSV ALRI. Results. We included 133 patients (age 4.9 ± 4.1 years). RSV was identified in 21.8%. The algorithm identified ALRI in 33.8% (95%CI: 26.3-42.2) and showed a limited ability to identify RSV infection (sensitivity: 55.2%, specificity: 72.1%). Conclusion. An algorithm for identifying ALRI consultations in electronic health records does not adequately distinguish those caused by RSV.

Invasive mechanical ventilation (IMV) is widely used in pediatric intensive care units. Acute lower respiratory infection is its primary indication; it is characterized by increased inspiratory and expiratory resistance, as well as decreased lung compliance. It can progress to acute respiratory distress syndrome, which poses a challenge in optimizing IMV. Although different ventilatory modes are not presumed to generate significant clinical differences, there is a marked preference for the pressure control mode in pediatrics. In predominantly obstructive conditions, volume control mode ensures ventilation regardless of the degree of inspiratory resistance, allowing for extended expiratory time and preventing hyperinflation. In restrictive conditions, pressure control enables ventilation to be adjusted to protective parameters, albeit with the potential risk of inducing damage due to higher flow rates. The physiological basis of the different ventilation modes and their clinical application are reviewed.

Acute suppurative thyroiditis (AST) is a rare endocrinological emergency in pediatrics that may require immediate infectious disease and surgical intervention. It is generally associated with bacterial infections and, in some cases, congenital malformations of the branchial arch. We present the case of a 7-year-old girl with recurrent AST, in both episodes with cervical abscess formation, requiring intravenous antibiotics and surgical drainage. From the outset, a piriform sinus fistula was suspected, which was confirmed by direct laryngoscopy in the operating room during the hospitalization for the second episode. Chemical sclerosis of the fistulous tract was performed, with favorable evolution and no recurrence at follow-up. Although rare, this case highlights the importance of considering AST in the differential diagnosis of cervical masses in the pediatric population. It also encourages investigation of underlying causes such as congenital anomalies, which allows for early diagnosis and definitive treatment.

Introduction. Spina bifida, particularly its most common form, myelomeningocele (MMC), is a severe congenital malformation associated with high neonatal morbidity and long-term disability. Since 2015, our center has been performing intrauterine repair of MMC using a modified open surgical technique. Objective. To describe the obstetric and perinatal outcomes, the need for treatment of hydrocephalus, and the ability to walk in children who underwent open fetal surgery for repair of spinal dysraphism, and to compare these data with those published in the Management of Myelomeningocele Study (MOMS). Population and methods. Retrospective observational study of 102 consecutive cases operated on between 2015 and 2023. Maternal, neonatal, and neurological variables were analyzed in the mediumterm follow-up. Results. The mean gestational age at the time of surgery was 26.1 weeks. Maternal and neonatal complication rates were similar to or lower than those reported in the MOMS study. The need for ventriculoperitoneal shunting at 12 months was 23.8%. At 30 months, 84.8% of patients were walking with or without orthopedic devices. Conclusion. Open fetal repair of MMC at our center, performed by a multidisciplinary team using a modified surgical technique, presented a favorable maternal-fetal safety profile. The perinatal and neurological outcomes obtained are comparable to those of international reference centers, with a low rate of ventriculoperitoneal shunting and a high percentage of children able to walk at 30 months of age. These findings support the continuation and optimization of this intervention in experienced centers.

Biosimilars are highly similar versions of already authorized biological drugs. A notable benefit of these is their significantly lower price compared to innovator drugs, which frees up healthcare resources and improves affordability. Leading regulatory agencies approve biosimilars after rigorous comparability studies, ensuring that there are no significant differences in quality, safety, and effectiveness. Currently, the structural and functional equivalence of biosimilars to originators may be sufficient evidence, together with post-marketing experience, to support their safe and effective use in pediatrics. Although the extrapolation of indications and interchangeability continues to be debated, research continues to support the use of biosimilars. However, challenges remain, such as regulatory heterogeneity and mistrust due to misinformation. Continuing education and clear public policies are essential to maximize their adoption and access to vulnerable populations such as children.

Background. The COVID-19 pandemic is perceived as a major threat to health and the economy worldwide, and its effects have been ongoing for about five years. Studies were generally conducted in the early stages of the pandemic, and usually included adults or adolescents. Studies examining the impact of the pandemic on preschool children (3-6 years old) are quite scarce. This study aimed to evaluate the perceived anxiety levels of children aged 3 to 6 years and their parents, focusing on anxiety-related behavioral patterns in children and the frequency of anxiety-related expressions. The assessment was conducted at four distinct time points over four years following the onset of the COVID-19 pandemic. Method. This descriptive-cross-sectional study was conducted between May 17, 2020 and October 30, 2023. An online questionnaire form was used at four different time points. Results. 3732 parents with children aged 3-6 participated in the study. Children's anxiety-related behaviors and expressions were more frequent during the first and second time points. Anxiety-related behaviors were more common in children during the long-term bans. Conclusion. Perceived anxiety levels of the children aged 3-6 years at different time points during COVID-19 pandemic reflected the epidemic trends of the disease and parental anxiety levels. Understanding how the effects are distributed is important for the future.

Posterior reversible encephalopathy syndrome (PRES) is a type of leukoencephalopathy that usually presents symptoms such as headache, altered consciousness, seizures, blurred vision, and imaging signs such as subcortical white matter edema, predominantly in the parieto-occipital lobes. Numerous risk factors have been identified, which involve impaired cerebral blood flow autoregulation and vasogenic edema. We present the case of a 14-year-old female patient who, in the context of an induction treatment for Crohn's disease with high-dose corticosteroids, azathioprine, and infliximab, presented with posterior reversible encephalopathy, a rare complication in patients with inflammatory bowel disease.

Breastfeeding is the gold standard in pediatric nutrition. When it is not possible, desired, or sufficient, infant formulas and foods for specific medical purposes are available, developed to meet special nutritional requirements. These products are manufactured using complex technological processes, under strict quality, hygiene, safety, and international regulations. Unlike other mass-market products (cookies, snacks), they are designed to contribute to children's nutrition. Their formulation includes adaptations in proteins, lipids, carbohydrates, vitamins, and minerals, according to the infant's needs.They are recommended in cases of prematurity, allergies, intolerances, digestive or metabolic disorders, or special conditions, and should always be recommended by a healthcare professional. Their correct use ensures the nutrients necessary for proper growth and development, as well as those essential for dietary and nutritional therapy.