Archivos argentinos de pediatria最新文献

Introduction. Telomere length (TL) is a biomarker of cellular aging. Its excessive shortening is associated with telomere biology disorders (TBD), which can manifest from childhood with bone marrow failure and a predisposition to cancer. The clinical interpretation of TL requires age-adjusted reference curves specific to each population. In Argentina, there is no curve of its own. The objective of the study was to construct an age-adjusted telomere length reference curve representative of the Argentine population. Methods. Using the Monochrome Multiplex Quantitative PCR (MMQPCR) technique, TL was estimated in 159 samples from healthy individuals (0-50 years old). The percentile curve was adjusted using a generalized linear model with a gamma distribution. Validation was performed using 19 controls (normal and pathological) that had previously been evaluated by MMQPCR or Southern blot in international laboratories. Results. The curve allowed us to estimate age-adjusted TL percentiles (P1-P95). All samples with a clinical or molecular diagnosis of TBD were below P10, and cases with severe phenotypes were below P1. Normal controls were above P10. The technique demonstrated good reproducibility and adequate model adjustment. Conclusions. The first age-adjusted TL reference curve was generated in the Argentine population. It is a valuable tool for local laboratories that use the same methodology, guiding the diagnosis of TBD. Its integration with next-generation sequencing techniques increases diagnostic sensitivity and allows for a more accurate approach to these syndromes.

Primary hyperparathyroidism in patients with tuberous sclerosis (TS) is extremely rare: only three cases have been reported previously, two of them in pediatric patients. An 11-year-old male patient with a clinical and molecular diagnosis of TS presented with mild symptomatic hypercalcemia in routine laboratory tests. Biochemical evaluation confirmed hypercalcemia with hypophosphatemia and inadequate parathyroid hormone levels, with radiological signs of hyperparathyroidism. Ultrasound demostrated hyperplasia of the left superior parathyroid gland, and a sestamibi and technetium-99m scintigram showed hyperfunctioning parathyroid tissue in both superior parathyroid glands. Patient underwent surgical excision of the affected parathyroid glands He presented with transient postoperative hypoparathyroidism. Although the presentation of hyperparathyroidism in TS is infrequent, we recommend evaluating symptoms associated with hypercalcemia and eventually obtaining serum calcium and phophorus measurements early diagnosis and timely treatment may prevent renal and bone complications.

Klinefelter syndrome (KS), the most common sex chromosome aneuploidy in males, is often underdiagnosed until adolescence, delaying early intervention. We describe 11 pediatric patients with KS who were followed between 2005 and 2025 to identify early markers. Three were diagnosed prenatally; the remaining eight were diagnosed at a median age of 6.1 years, mainly due to neurodevelopmental problems. Of the total of 11 patients, 9 had delayed language acquisition, followed by 8 with psychomotor delay, 5 with behavioral disorders, 3 with sleep disorders, and 2 with epilepsy. Endocrinological comorbidities were less frequent in childhood. Delayed language development emerges as a crucial early indicator. Active detection, along with other neurodevelopmental comorbidities, is essential to address underdiagnosis and enable early, multidisciplinary intervention, thereby significantly improving patients' developmental outcomes and quality of life in KS.

Tongue-tie is a congenital condition characterized by an abnormal insertion that limits tongue mobility. Its prevalence in pediatrics ranges from 1.7% to 10%, depending on the diagnostic criteria applied. Although it can be asymptomatic, in many cases it causes significant functional repercussions from the neonatal period to late childhood. This article aims to describe the clinical manifestations by age, the primary surgical indications, the optimal timing for intervention, and the currently available surgical techniques.

ntroduction. Sepsis is one of the leading causes of pediatric mortality in Argentina. The aim was to describe the epidemiological characteristics of sepsis and septic shock (ESSPED-2 study) in pediatric intensive care units (PICUs) in Argentina and compare them with previous data from the Epidemiological Study of Severe Pediatric Sepsis (ESSPED). Population and methods. An observational, cross-sectional, prospective study in patients with sepsis hospitalized in PICUs in Argentina from September 15, 2021, to December 15, 2021. Results. A total of 3230 patients were admitted to 55 PICUs. We included 428 patients who had 476 events. The median age was 17 months (4.2-74.2). The prevalence was 14.7%, and the 28-day mortality rate was 16.5%; 36.7% of patients did not receive antibiotics within the first hour. Receiving more than 60 mL/kg of fluids in the first 60 minutes showed a negative trend in mortality. Patients with comorbidities, septic shock, acute respiratory distress syndrome (ARDS), dysfunction of 2 or more organs, and phenotype D had higher mortality. The clinical characteristics and prevalence remained unchanged, whereas the administration of fluids and the use of vasoactive drugs changed, and mortality rates decreased significantly. Conclusions. Sepsis is an event of high prevalence and mortality in Argentina. In the multivariate analysis, the variables lose relevance, except for the presence of dysfunction in 2 or more organs, septic shock, a Pediatric Mortality Index (PMI3) value greater than 15, or being an immunocompromised host.

Introduction. Setting the cut-off point in objective structured clinical examinations (OSCEs) is a controversial aspect of assessment. In resource-limited settings, the Hofstee method requires additional tasks from other teachers outside the examination time. In contrast, the borderline group method is applied during the assessment, allowing for a more efficient use of time and resources. Objective. To compare the reliability of the borderline group and Hofstee methods applied in a graduation OSCE at an Argentine public university, providing local evidence to an internationally relevant debate. Population and methods. Cross-sectional study of 56 students in a 12-station OSCE. Two standardsetting methods were applied: borderline group (using observers during the exam) and Hofstee (electronic consultation with expert judges). Cut-off points, failure rates, and reliability (phi coefficient λ) were compared using generalizability theory. Results. The average score was 66.1 (SD 4.7). The cut-off point using the borderline group method was 54 (overall) with a reliability of 0.89 and no failures. The Hofstee method defined cut-off points of 60.7 (overall), with 3 and 1 students failing, respectively, and reliability of 0.68 and 0.82. Conclusions. Both methods show adequate reliability; however, they differ in their practical consequences, as the borderline group method was more lenient, generating a higher number of passing students.

In light of the risk posed by sedentary lifestyles, the importance of school physical education as a health tool and the hierarchy of teachers and graduates who teach this subject is emphasized. The rights of children and adolescents to access health care, medical attention, recreation, and sports must be respected. A health certificate should be required as part of the annual documentation that students must submit, but this should not be a limitation to participate in physical education classes. Only children and adolescents who present a medical certificate indicating otherwise may be excluded from participation in these classes, either temporarily or permanently. Given the low incidence of serious events at these ages during physical exercise, the risk posed by a sedentary lifestyle is much greater.

Introduction. Skeletal dysplasias are rare genetic disorders that affect bone and cartilage development, with a prevalence of 3.2 cases per 10,000 newborns in South America. Neonatal auxologic evaluation enables the early detection of these conditions, serving as a cost-effective and accessible tool for early intervention. This study aims to determine the prevalence of low birth weight, short body length, and body disproportion at birth in patients with a molecular diagnosis of achondroplasia (ACH), hypochondroplasia (HCH), SHOX gene alterations (SHOX), and familial hypophosphatemic rickets (FHR). Population and methods. Retrospective descriptive study based on medical records of patients evaluated between 2002 and 2023 in a high-complexity pediatric hospital. Patients with skeletal dysplasia and complete anthropometric data at birth were included in the study. Weight, body length, and head circumference were analyzed, with the calculation of Z-scores according to the INTERGROWTH-21st standards and the head circumference/body length index using Argentine references. Results. Of the 581 patients, 453 were included (ACH 62%, HCH 12%, SHOX 8%, FHR 18%); 31% of the neonates with ACH and 12% with HCH had body length < ̵2 SD. True macrocephaly (>2 SD) was observed in 47% (ACH) and 32% (HCH), and relative macrocephaly in 57% and 28%, respectively. Conclusion. Low body length at birth was more frequent in achondroplasia and hypochondroplasia. Relative macrocephaly, also prevalent in these groups, highlights the value of the head circumference/body length index as a neonatal screening tool.

Introduction. Congenital syphilis (CS) is a persistent public health problem, and Argentina has been experiencing an increase in its incidence in recent years. Various social factors influence the distribution of CS. The objective of this study is to describe the temporal trends in CS rates and evaluate their association with income inequality in Argentina in the period 2006-2021. Methods. An ecological study was conducted, considering the 24 Argentine jurisdictions (23 provinces plus the Autonomous City of Buenos Aires [CABA, by its Spanish acronym]) as units of analysis. CS rates were estimated by jurisdiction for each year of the study, and their temporal distribution was analyzed for the national total and by region. An exploratory analysis of the distribution of CS rates and the Gini coefficient was performed at the national level and by region. Next, mixed linear models were estimated to assess the association between the Gini coefficient and CS rates. Results. The CS rate showed an oscillating and upward trend at the national level and in most regions, with a sustained increase in the Northwest region (NOA) and recent marked increases in Cuyo. As the Gini coefficient increases, the CS rate in the provinces increases (95% CI: 0.11-0.42). Conclusion. CS rates generally showed an upward trend, with variations across different regions. Income inequality was associated with higher CS rates, highlighting the influence of structural social factors on this disease in Argentina. Income inequality was associated with higher CS rates at the provincial level, demonstrating the impact of structural factors on disparities in this disease in Argentina.

Neurodevelopmental disorder with variable motor and language impairment (NEDMIAL) is a rare condition associated with mutations in the DHX30 gene, which encodes an RNA helicase involved in regulating the translation and stability of messenger RNA. Fewer than 110 cases worldwide have been documented, with no previous reports in Argentina. We present the case of an 11-month-old girl who was admitted to the hospital for acute gastroenteritis in the context of axial hypotonia since the first months of life, significant motor delay, and swallowing difficulties. After three years of multidisciplinary follow-up and after ruling out common causes of infantile hypotonia, a de novo mutation in DHX30 was confirmed, and the diagnosis of NEDMIAL was established. This case underscores the importance of early diagnosis and an interdisciplinary approach in the management of rare neurological diseases.