Archivos argentinos de pediatria最新文献_第5页

Quality of life in families and children with medical complexity. 医疗复杂的家庭和儿童的生活质量。

IF 0.5 4区医学

Archivos argentinos de pediatria Pub Date : 2025-08-21 DOI: 10.5546/aap.2025-10676.eng

Pablo Gómez Garrido, Enrique Villalobos Pinto, Azucena Retuerta Oliva, María Suárez-Bustamante Huélamo, Raquel Jiménez García

{"title":"Quality of life in families and children with medical complexity.","authors":"Pablo Gómez Garrido, Enrique Villalobos Pinto, Azucena Retuerta Oliva, María Suárez-Bustamante Huélamo, Raquel Jiménez García","doi":"10.5546/aap.2025-10676.eng","DOIUrl":"10.5546/aap.2025-10676.eng","url":null,"abstract":"Introduction. Specialized units for children with medical complexity (CMC) aim to improve the quality of life of these patients. The objective of this study is to analyze the characteristics of patients and families evaluated in a recently created CMC specialized unit, as well as factors related to their quality of life. Population and methods. Analytical cross-sectional study that included CMCs seen in a monographic consultation between 2020 and 2024. Clinical data were collected, and parents completed a questionnaire with questions taken from quality-of-life scales. Results. We included 60 of the 217 children who were seen. The mean age was 7.18 years. 68.3% were male. 41.7% had cerebral palsy; 38.3% were dependent on technical support. About the questions, 11/19 related to parents and 1/12 related to patients showed negative answers. Risk factors were non-Spanish origin, behavioral disorders, and sleep disturbances. Conclusions. Our results showed different perspectives on quality of life between CMCs and their families, identifying origin, behavior, and sleep as risk factors.","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202510676"},"PeriodicalIF":0.5,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144871121","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}

引用次数: 0

Experience with denosumab in the treatment of bone diseases in pediatrics at a tertiary care hospital. denosumab在三级护理医院治疗儿科骨病的经验

IF 0.5 4区医学

Archivos argentinos de pediatria Pub Date : 2025-08-14 DOI: 10.5546/aap.2025-10708.eng

Ana Feller, Mariana Aziz, Silvia Gil, Daniela Fortunati, Marianela Viso, María de Los Ángeles Insúa Beverina, Natalia Bermejo, Ianina Soria, Adriana Rosé, Marta Ciaccio, Gisela Viterbo

{"title":"Experience with denosumab in the treatment of bone diseases in pediatrics at a tertiary care hospital.","authors":"Ana Feller, Mariana Aziz, Silvia Gil, Daniela Fortunati, Marianela Viso, María de Los Ángeles Insúa Beverina, Natalia Bermejo, Ianina Soria, Adriana Rosé, Marta Ciaccio, Gisela Viterbo","doi":"10.5546/aap.2025-10708.eng","DOIUrl":"https://doi.org/10.5546/aap.2025-10708.eng","url":null,"abstract":"Denosumab has been shown to improve post-surgical morbidity in resectable lytic bone neoplasms with high RANK-L expression and to halt disease progression in unresectable cases. Intra- and post-treatment adverse effects have been reported. We conducted a prospective, descriptive study including six patients with lytic bone neoplasms treated with denosumab. The median age at onset treatment was 7.4 years, and the male-to-female ratio was 5:1. Five patients showed a favorable response. All patients developed hypocalcemia and hypophosphatemia during treatment, requiring adjustments in calcium and ergocalciferol/cholecalciferol supplementation (6/6), the addition of calcitriol (5/6), and phosphate salts (3/6). Metaphyseal bands were observed in 4 out of 6 patients. No fractures were reported, and most patients did not show evidence of impaired growth. Four patients experienced post-treatment hypercalcemia. Risk factors included younger age, a higher number of doses, and the presence of metaphyseal bands.","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202510708"},"PeriodicalIF":0.5,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144820441","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}

引用次数: 0

Hereditary hemorrhagic telangiectasia in pediatrics: descriptive study in a specialized unit. 儿科遗传性出血性毛细血管扩张：一个专门单位的描述性研究。

IF 0.5 4区医学

Archivos argentinos de pediatria Pub Date : 2025-08-07 DOI: 10.5546/aap.2025-10661.eng

Magalí Squitín Tasende, Nicolás Guerrero Serravalle, Lucía G Pérez, Ana Braslavsky, Marcelo Serra

{"title":"Hereditary hemorrhagic telangiectasia in pediatrics: descriptive study in a specialized unit.","authors":"Magalí Squitín Tasende, Nicolás Guerrero Serravalle, Lucía G Pérez, Ana Braslavsky, Marcelo Serra","doi":"10.5546/aap.2025-10661.eng","DOIUrl":"https://doi.org/10.5546/aap.2025-10661.eng","url":null,"abstract":"Introduction. Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterized by bleeding telangiectasias and arteriovenous malformations (AVMs) in the brain, lungs, liver, and gastrointestinal tract. In childhood, its manifestations are often subtle or absent, making it difficult to recognize. The lack of evidence in pediatrics, especially in Latin America, favors underdiagnosis and limits the timely management of its complications. This study describes the epidemiological, clinical, genetic, and therapeutic characteristics of pediatric patients with HHT at a referral center. Population and methods. Retrospective, descriptive study of pediatric patients evaluated between 2010 and 2022 in the HHT Unit of a referral center. Epidemiological, clinical, genetic, and therapeutic data were collected from the institutional registry. Results. A total of 158 patients were included, mainly from Buenos Aires and surrounding areas; nearly 70% consulted due to a family history of the disease. The average age at the first consultation was 9 years, with 52% of participants being female. HHT was confirmed in 80 patients using Curaçao criteria and/or genetic testing, with a positivity rate of 50%. Mutations were identified in ACVRL1 (56%), ENG (40%), and MADH4 (2.7%). Epistaxis was the most common symptom (92%), with an average onset at age 7. Pulmonary (13%), central nervous system (11%), hepatic (8%), and digestive (2%) AVMs were detected. Conclusion. The importance of early diagnosis of HHT in pediatrics, as well as the need to recognize signs such as recurrent epistaxis or unexplained hypoxemia, is highlighted to facilitate detection and specialized treatment.","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202510661"},"PeriodicalIF":0.5,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144783357","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}

引用次数: 0

Multisystem Langerhans cell histiocytosis with gastrointestinal involvement in an infant: A case report. 婴儿多系统朗格汉斯细胞组织细胞增多症伴胃肠道受累1例。

IF 0.5 4区医学

Archivos argentinos de pediatria Pub Date : 2025-08-07 DOI: 10.5546/aap.2025-10752.eng

Kerly Fiestas, Wilma Geraige, Mariana Torres, Paula Roitman, Karina Arco, Giuliana Vaquer

引用次数: 0

Second epidemiological study of pediatric sepsis and septic shock in Argentina (ESSPED-2). 阿根廷儿童败血症和感染性休克的第二次流行病学研究（esspeed -2）。

IF 0.5 4区医学

Archivos argentinos de pediatria Pub Date : 2025-07-31 DOI: 10.5546/aap.2025-10646.eng

María E Galván, Carolina Viqueira Guzmán, Estefanía Lanzavecchia, Roberto Jabornisky, Silvina Ruvinsky, María V Kulik, Silvia N Santos, Joseph Carcillo, Luis Landry, Macarena Roel, Juan C Vassallo

{"title":"Second epidemiological study of pediatric sepsis and septic shock in Argentina (ESSPED-2).","authors":"María E Galván, Carolina Viqueira Guzmán, Estefanía Lanzavecchia, Roberto Jabornisky, Silvina Ruvinsky, María V Kulik, Silvia N Santos, Joseph Carcillo, Luis Landry, Macarena Roel, Juan C Vassallo","doi":"10.5546/aap.2025-10646.eng","DOIUrl":"https://doi.org/10.5546/aap.2025-10646.eng","url":null,"abstract":"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.","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202510646"},"PeriodicalIF":0.5,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144726884","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}

引用次数: 0

A novel homozygous NR1H4 mutation in idiopathic elevated transaminases. 特发性转氨酶升高中一种新的纯合NR1H4突变。

IF 0.5 4区医学

Archivos argentinos de pediatria Pub Date : 2025-07-31 DOI: 10.5546/aap.2024-10617.eng

Reyhan Kaya, Meltem Gümüş, Anna C Ergani, Halil H Emiroğlu, Ebru Marzioğlu Özdemir

引用次数: 0

Voriconazole-associated peripheral polyneuropathy: A case report. 伏立康唑相关周围多神经病变1例报告。

IF 0.5 4区医学

Archivos argentinos de pediatria Pub Date : 2025-07-31 DOI: 10.5546/aap.2024-10599.eng

Bárbara J González, Paula Ivarola, Miguel Miranda, Roberto Caraballo, M Soledad Monges

引用次数: 0

Pleural and extradural spinal involvement in a patient with systemic bartonellosis. 一例全身巴尔通体病累及胸膜及硬膜外脊柱。

IF 0.7 4区医学

Archivos argentinos de pediatria Pub Date : 2025-07-24 DOI: 10.5546/aap.2024-10573.eng

Ileana A Kamiya Rodas, Ana C Bustos

引用次数: 0

Prevalence of vitamin D deficiency in children with hemato-oncological diseases at a tertiary hospital in Buenos Aires. 布宜诺斯艾利斯某三级医院血液肿瘤疾病患儿维生素D缺乏症的流行情况

IF 0.7 4区医学

Archivos argentinos de pediatria Pub Date : 2025-07-24 DOI: 10.5546/aap.2025-10659.eng

Daisi Vicentin, Guillermo Alonso, Sergio Terrasa, Guadalupe Geli

引用次数: 0

Prevalence of low birth weight, short length, and body disproportion at birth in patients with skeletal dysplasias: A retrospective study. 骨骼发育不良患者出生时低体重、短身长和身体比例失调的患病率：一项回顾性研究。

IF 0.7 4区医学

Archivos argentinos de pediatria Pub Date : 2025-07-17 DOI: 10.5546/aap.2025-10663.eng

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":"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.","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}

引用次数: 0