Silvana S Chiaramonte, Mariana Del Pino, Virginia Fano
{"title":"Prevalence of low birth weight, short length, and body disproportion at birth in patients with skeletal dysplasias: A retrospective study.","authors":"Silvana S Chiaramonte, Mariana Del Pino, Virginia Fano","doi":"10.5546/aap.2025-10663.eng","DOIUrl":"https://doi.org/10.5546/aap.2025-10663.eng","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202510663"},"PeriodicalIF":0.7,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144635987","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Javier Martín-Ávila, Esther Rodríguez-Jiménez, Selene Valero-Moreno, Inmaculada Montoya-Castilla, Marián Pérez-Marín
{"title":"Psychological intervention strategies in adolescents with type 1 diabetes mellitus: A literature review.","authors":"Javier Martín-Ávila, Esther Rodríguez-Jiménez, Selene Valero-Moreno, Inmaculada Montoya-Castilla, Marián Pérez-Marín","doi":"10.5546/aap.2025-10641.eng","DOIUrl":"https://doi.org/10.5546/aap.2025-10641.eng","url":null,"abstract":"<p><p>Type 1 diabetes mellitus is a chronic disease with a significant impact on the patient's daily life. It is essential to follow appropriate treatment guidelines, which can be particularly challenging during adolescence. This study aimed to review the core areas of psychological intervention in adolescents with type 1 diabetes mellitus (T1DM). A search of the scientific literature was conducted to analyze the central psychological interventions aimed at improving adjustment to T1DM. Thirty-eight articles presenting treatment protocols aimed at adolescents with T1DM were examined. The results show heterogeneity in the intervention methodology and the variables evaluated. Most of the research did not refer to a theoretical model to structure and justify the proposed interventions. This hinders the replicability of these interventions and the generalization of their results, highlighting the need for further research.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202510641"},"PeriodicalIF":0.7,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144635988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ana Varea, Liliana Disalvo, Marisa Sala, Natalia Matamoros, María V Fasano, Horacio F González
{"title":"A new hemoglobin cutoff value proposed by the World Health Organization: Its impact on the prevalence of anemia in children under 2 years of age.","authors":"Ana Varea, Liliana Disalvo, Marisa Sala, Natalia Matamoros, María V Fasano, Horacio F González","doi":"10.5546/aap.2025-10670.eng","DOIUrl":"10.5546/aap.2025-10670.eng","url":null,"abstract":"<p><p>Objective. Comparing the prevalence and severity of anemia according to the WHO 2011 and WHO 2024 cutoff points. Population and methods. Retrospective cross-sectional study. Hemoglobin data from children aged 6 to 24 months who underwent controls between 2017 and 2024 were analyzed. The prevalence and severity of anemia were established in all children, categorized by age group and sex. Results. A total of 1843 children were included, with 47.7% being girls. The prevalences of anemia were 46.9% (WHO, 2011) and 25.8% (WHO, 2024); they were higher in the 6-12 months group, with no differences according to sex. No child presented with severe anemia. Conclusion. Despite the decrease in the new cutoff point, anemia remains a significant public health issue affecting approximately 1 in 4 children aged 6 to 24 months who have accessed the public health system, in our region. Most of the cases were mild anemias.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202510670"},"PeriodicalIF":0.7,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144582932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Musculoskeletal mucormycosis in a girl with acute lymphoblastic leukemia.","authors":"Daisi Vicentin, Eugenia Fernández Scotto","doi":"10.5546/aap.2025-10681.eng","DOIUrl":"10.5546/aap.2025-10681.eng","url":null,"abstract":"<p><p>Mucormycosis is an aggressive fungal infection caused by fungi of the order Mucorales. Diagnosis is based on histopathological identification of microorganisms and culture confirmation. In case of suspicion, early surgical debridement and early antifungal therapy are recommended. The diagnosis and treatment of these infections pose a significant challenge, especially in pediatrics. Initial nonspecific clinical variability leads to late diagnosis. Their suspicion requires urgent intervention due to their rapid progression; late initiation of therapy is associated with higher mortality. We describe the case of a girl with acute lymphoblastic leukemia and steroid-induced diabetes who presented with a Rhizopus spp. infection in the deltoid muscle during the induction phase of oncologic treatment, with bone involvement.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202510681"},"PeriodicalIF":0.7,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144582933","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Heterotopic brain tissue, an unexpected reason for feeding difficulty.","authors":"Wei Mo, Shixi Liu, Hui Yang, Haiyang Wang","doi":"10.5546/aap.2025-10651.eng","DOIUrl":"10.5546/aap.2025-10651.eng","url":null,"abstract":"<p><p>Feeding difficulty is common in the infant; the causes are varied and often multifactorial, resulting from a confluence of comorbid conditions. Heterotopic brain tissue is an unexpected reason for feeding difficulty, with approximately only 49 cases reported in the pharyngeal region. In this case report, we present a 2-month-old male infant with feeding difficulty, who was finally diagnosed as oropharyngeal heterotopic brain tissue. The patient underwent surgical excision; no functional disturbance of the oropharynx was found postoperatively. This study aims to enhance the comprehension, accurate diagnosis, and appropriate treatment of of feeding difficulty and pharyngeal heterotopic brain tissue by presenting an unusual case.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202510651"},"PeriodicalIF":0.7,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144537919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Manuel Linares, Micaela Lambertucci, Mateo Castellani
{"title":"Neurodevelopmental disorder with variable motor and language impairment (NEDMIAL): first case reported in Argentina.","authors":"Manuel Linares, Micaela Lambertucci, Mateo Castellani","doi":"10.5546/aap.2025-10669.eng","DOIUrl":"10.5546/aap.2025-10669.eng","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202510669"},"PeriodicalIF":0.7,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144537921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Chemotherapy-associated nephrotoxicity: a persistent clinical challenge.","authors":"Miguel Liern","doi":"10.5546/aap.2025-10666.eng","DOIUrl":"10.5546/aap.2025-10666.eng","url":null,"abstract":"<p><p>In the last two years, the Nephrology Unit of our hospital recorded an increasing percentage of consultations corresponding to renal damage related to chemotherapy treatments. This increase could be attributed to more precise diagnoses, the development of targeted therapies, and improved survival rates. Chemotherapy prolongs and improves the lives of people with cancer, but it can also negatively affect renal function. Therefore, it is essential to detect predisposing nephrotoxic factors early, such as pre-existing renal damage, neoplastic renal infiltration, the presence of toxic metabolites, and the tubular transport system used by these drugs, with their consequent accumulation in the renal interstitium. It is essential to implement the renal prevention measures recommended in the context of chemotherapy treatment, to administer these drugs at the recommended doses, and to conduct strict clinical monitoring.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202510666"},"PeriodicalIF":0.7,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144537918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Paula Weissbrod, María I Peñalva, Ariela Slarner, Patricia Jáuregui Leyes
{"title":"Insufficient physical activity in adolescents.","authors":"Paula Weissbrod, María I Peñalva, Ariela Slarner, Patricia Jáuregui Leyes","doi":"10.5546/aap.2024-10518.eng","DOIUrl":"https://doi.org/10.5546/aap.2024-10518.eng","url":null,"abstract":"<p><p>Introduction. Insufficient physical activity (IPA) affects a significant number of children and adolescents. Understanding its associated factors is key to improving their health. This study aimed to determine the prevalence and characteristics associated with IPA in adolescents. Population and methods. Adolescents aged 13 to 18 years who attended health checkups at two primary care centers during August and September 2023. A survey was applied to determine the physical activity level and its associated factors. Results. A total of 111 adolescents were included in the study. Of the total, 61.26% (68) considered themselves to have not done enough physical activity; 88% (98) had an IPA. The only factor significantly associated with greater physical activity was having to work or help around the house. Conclusion. The prevalence of IPA was 88%, and the need to work or help at home was associated with higher levels of physical activity.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202410518"},"PeriodicalIF":0.7,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144315777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Malena Silberkasten, Erika San Martin, Jimena V Cuello, María V Britto, María E Andrés
{"title":"Pulmonary hypertension secondary to vitamin C deficiency: A case report.","authors":"Malena Silberkasten, Erika San Martin, Jimena V Cuello, María V Britto, María E Andrés","doi":"10.5546/aap.2025-10643.eng","DOIUrl":"https://doi.org/10.5546/aap.2025-10643.eng","url":null,"abstract":"<p><p>Scurvy is a rare disease caused by exogenous ascorbic acid deficiency. It should be considered in atrisk groups, such as patients with neurodevelopmental disorders who present restrictive diets due to food selectivity. Although pulmonary hypertension associated with vitamin C deficiency is extremely rare, its occurrence is possible. Signs and symptoms such as edema, tachycardia, palpitations, and dyspnea should raise suspicion about the diagnosis. In most cases, this condition is transient and can be reversed with early diagnosis and adequate supplementation with ascorbic acid. We present a case of a patient with autism spectrum disorder and vitamin C deficiency who developed pulmonary hypertension.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202510643"},"PeriodicalIF":0.7,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144315781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}