Revista Chilena de Pediatria-Chile最新文献

Introduction: Infants are a group at risk of vitamin D (VD) deficiency. The administration of 400 IU of VD per day during the first year of life does not achieve 100% adherence. A single dose of 100,000 IU of oral VD is safe in newborns.

Objective: To compare the effect of oral administration of VD between a single dose of 100,000 IU at one month of age vs daily doses of 400 IU on serum concentrations of VD, at 6 months of age.

Subjects and method: Randomized clinical trial, without masking. 84 healthy infants were included at 1 month of age, randomized to the study group (SG) receiving a single oral dose of 100,000 IU or to the control group (CG), who received daily oral doses of VD of 400 IU from the 1st to the 6th month of life. At 6 months of life, the serum concentration of VD was determined.

Results: 65 infants completed the study, 36 in SG and 29 in CG. No VD deficiency was found. VD insufficient was 5.5% and 6.8% in the SG and CG, respectively. The serum concentration of VD at six months of age was 38.8 ± 5.2 ng/ml and 39.7 ± 6.3 ng/ml for the SG and CG, respectively (NS).

Conclusions: Supplementation of 100,000 IU of VD at one month age achieves serum concentrations of VD at 6 months of life similar to the administration of daily doses of 400 IU of VD from the 1st to the 6th month.

Introduction: In the last decades more and more children survive with complex health conditions, requiring a transition from pediatric to adult care. It is essential to have instruments that provide information on the level of preparation of patients for this process.

Objective: To create and validate a questionnaire to measure the readiness status of adolescent patients with chronic diseases in the transition process.

Patients and method: Based on international questionnaires, a self-report instrument was designed which was subjected to content validity by experts, and then to comprehension and feasibility tests in a pilot group. Subsequently, construct and reliability validation were performed through a factorial analysis after applied it to adolescents living with a chronic illness.

Results: After the analysis made by 11 experts and the pilot group with 8 patients, we obtained an instrument that was fully answered by 168 teenagers (Average age 14.4 years). After construct validation, a 24-items instrument of high clinical relevance was developed, with 9 items with acceptable psychometric properties, which were highlighted in the final questionnaire.

Conclusion: a self-report instrument aimed to measure the readiness of adolescents during the transition process to adult care is presented. The reported psycho metric properties of the instrument were insufficient to consider it validated since the construct vali dity and reliability were only checked for 9 of the 24 items.

The current COVID-19 pandemic is producing an unprecedented impact in the different spheres of life, at the same time that it has highlighted the importance that the Bioethics discipline has in analyzing and deliberating of emerging ethical challenges, before making reasonable and prudent decisions. The management and communication of information on this crisis has not been properly addressed, where it is considered that its negative effects may lead not only to interfere with the communication channels with citizens but also affect the expected adherence of the population to the indications that they need to follow. This issue is especially complex when experiencing a period of information explosion, a phenomenon called 'infodemic' by the World Health Organization. This article, claiming the ethical and legal imperative to act responsibly in collecting, using, and disse minating the information that helps any authority that plays a social function, proposes a series of recommendations to achieve its effectiveness in practice.

Introduction: In Chile, Down syndrome has a prevalence of 2.5 in 1,000 live births. These patients present more congenital anomalies and comorbidities than the general population, increasing their hospitaliza tion rate.

Objective: To describe congenital anomalies and comorbidities of neonates with Down syndrome born and/or hospitalized between 2008 and 2018.

Patients and method: We conducted a retrospective review of patient's medical records born and/or hospitalized during their first 28 days of life between January 1st, 2008, and December 31st, 2018. For each patient, we recorded maternal age, familiar cases of Down Syndrome, pre and perinatal history, genetic study result, as well as age at admission, reason for hospitalization, comorbidities, length of stay, and death. Two patients that had more than 50% of incomplete medical records were excluded. We studied the associations between comorbidities, congenital anomalies, and death.

Results: 140 in 79,506 newborns (0.2%) were diagnosed at our center with Down Syndrome in their neonatal period. 24.7% were born preterm and 26.4% had low birth weight for gestational age. Morbidities and hospitalizations were present in 83.6% and 90%, of the study population, respectively. The main reason for hospitalization was polycythemia and the most frequent was hyperbilirubinemia. Four patients died (2.9%) and 70.7% presented at least one congenital anomaly, mainly heart disease. Median maternal age was 36 years and 57.1% of mothers were aged 35 or older.

Conclusions: This cohort of patients with Down Syndrome provides important information for the optimization of their perinatal management and follow-up.

Introduction: The association of family cases of epilepsy and intellectual disability in women was reported in 1971. In 2008, the role of pathogenic variants of the PCDH19 gene in some families were identified. The disease presents with febrile seizure clusters, intellectual disability, and autistic features. Most cases are due to de novo variants, however, there are some inherited cases, with an atypical way of X-linked transmission.

Objective: To report the case of a patient with epilepsy carrier of a pathogenic variant of the PCDH19 gene, reviewing the natural history of this condition and the available evidence for its management.

Clinical case: Female patient, with normal history of pregnancy and perinatal period. At 6 months, while febrile, she presented focal motor seizure clusters that repeated at 14, 18, 21 months and 3 years old, always associated with fever, even presenting status epilepticus. She is on therapy with topiramate and valproic acid, achieving 13 seizure-free years. The analysis of the SCN1A gene showed no abnormalities and the study of the PCDH19 gene revealed a de novo heterozygous pathogenic variant. The patient evolved with intellectual disability and severe behavioral disorders that require mental health team support.

Conclusions: PCDH19 pathogenic variants have varied phenotypic expression. The genetic diagnosis should be guided with the clinical features. Long-term psychiatric morbidity can be disabling.

Introduction: Adequate nutrition during the first two years of life is crucial for the full development of human potential. Inadequate, early, or late introduction of complementary feeding has consequences in the short- and long-term. Complementary feeding depends largely on the knowledge of the caregiver who, in Latin American countries, is usually the mother.

Objective: To create and validate an ins trument to measure knowledge about complementary feeding.

Subjects and method: Observational study in which 80 community mothers and 12 expert pediatricians participated. It was carried out in two stages, the creation of the instrument (following the 7 phases proposed by Sampieri) and the va lidation through the evaluation of the apparent validity, construct and content validity, internal con sistency, and intra-observer reliability.

Results: A self-administered instrument was created that ini tially included 14 questions about maternal and caregiver's knowledge. During the validation of the construct, 3 domains were identified and four questions were eliminated. In the content validation, 10 questions of the final instrument scored higher than 9 (on a scale of 0-10) in the characteristics of quality, vocabulary, relevance, and topicality. The global internal consistency of the instrument was moderate (Cronbach's alpha: 0.64) and the intra-observer reliability was acceptable (k: 0.21-0.40) for 80% of its items.

Conclusions: the first self-administered instrument validated in the region to measure the knowledge of mothers and caregivers about complementary feeding is presented. It will allow to design and develop strategies in relation to maternal and caregiver's knowledge of comple mentary feeding.

Eating disorders (ED) have become relevant in Chilean pediatrics. Their treatment must be prefe rably carried out by multidisciplinary teams with specialty or a high degree of training in the pro blem. However, general pediatricians have a fundamental role both in the prevention and in the early detection of these pathologies. The purpose of this publication is to provide them with practical recommendations on interventions that can be carried out during adolescent care for the prevention of ED, the early detection and evaluation of those who already have them, and their timely referral to specialized treatment.