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Recurrent rhabdomyolysis as a presenting feature of glycogenosis IX (GSD IX): a case report. 复发性横纹肌溶解是IX型糖原病（GSD IX）的表现特征：1例报告。
IF 0.7 4区 医学
Archivos argentinos de pediatria Pub Date : 2025-04-03 DOI: 10.5546/aap.2024-10578.eng
Alejo Seminara, Guillermo T Newkirk, Consuelo Durand
{"title":"Recurrent rhabdomyolysis as a presenting feature of glycogenosis IX (GSD IX): a case report.","authors":"Alejo Seminara, Guillermo T Newkirk, Consuelo Durand","doi":"10.5546/aap.2024-10578.eng","DOIUrl":"https://doi.org/10.5546/aap.2024-10578.eng","url":null,"abstract":"<p><p>Rhabdomyolysis is the clinical picture characterized by the destruction of skeletal muscle. It is associated with the consequent elevation of serum creatine kinase above five times its standard value or greater than 1,000 U/L. Its most frequent causes are acquired. However, less frequent causes, such as congenital metabolic diseases, should be considered when the rhabdomyolysis event recurs. We describe the case of a pediatric patient with recurrent rhabdomyolysis, which triggered by a type IX glycogenosis with a PHKA1 gene mutation. This pathogenic variant generates muscle phosphorylase kinase enzyme deficiency, hindering the use of glycogen as an energy source during prolonged fasting or metabolic demands. We consider it essential to increase knowledge about these entities in the face of recurrent rhabdomyolysis in the pediatric age for early detection and timely referral to a specialist.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202410578"},"PeriodicalIF":0.7,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143762970","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
Severe dengue in pediatrics: 10 cases in Buenos Aires, Argentina. 小儿重症登革热：阿根廷布宜诺斯艾利斯10例。
IF 0.7 4区 医学
Archivos argentinos de pediatria Pub Date : 2025-04-03 DOI: 10.5546/aap.2024-10568.eng
María E Sevilla, Vivian Bokser, Laura Miño, Irene Oks, María B Amatto, Victoria Nicolau, Ailen Altschuler, Ximena S Juárez
{"title":"Severe dengue in pediatrics: 10 cases in Buenos Aires, Argentina.","authors":"María E Sevilla, Vivian Bokser, Laura Miño, Irene Oks, María B Amatto, Victoria Nicolau, Ailen Altschuler, Ximena S Juárez","doi":"10.5546/aap.2024-10568.eng","DOIUrl":"10.5546/aap.2024-10568.eng","url":null,"abstract":"<p><p>Introduction. In pediatrics, dengue is usually oligosymptomatic; however, severe cases may occur. The objective is to describe severe dengue cases admitted to a pediatric hospital during the 2023-2024 dengue outbreak. Population and methods. A retrospective descriptive cross-sectional study included all patients with severe dengue. Results. Of the 205 patients hospitalized for dengue, 10 cases corresponded to severe dengue, of which 5 had no risk factors. The median age was 12 years. Seven patients required intensive care; 6 had transaminase values higher than 1000 U/L, and one patient died. Regarding serotyping, 7 cases corresponded to DEN-2. Conclusion. Severe dengue in pediatrics can occur with or without comorbidities in all age groups. The most affected target organ was the liver, although encephalitis and myocarditis may occur.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202410568"},"PeriodicalIF":0.7,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143762981","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
Dyschezia or functional constipation: a frequent challenge in pediatric practice. 便秘或功能性便秘：儿科临床中经常遇到的难题。
IF 0.7 4区 医学
Archivos argentinos de pediatria Pub Date : 2025-04-03 DOI: 10.5546/aap.2024-10476.eng
Fernando Burgos, Lucio González, Karina Leta, María Del Carmen Toca
{"title":"Dyschezia or functional constipation: a frequent challenge in pediatric practice.","authors":"Fernando Burgos, Lucio González, Karina Leta, María Del Carmen Toca","doi":"10.5546/aap.2024-10476.eng","DOIUrl":"10.5546/aap.2024-10476.eng","url":null,"abstract":"<p><p>Dyschezia and constipation in infants are functional digestive disorders that have defecatory difficulty in common and differ fundamentally in the age of presentation and the consistency of the stool. Both disorders generate concern in parents and frequent consultations with the health system. Dyschezia is a self-limited functional digestive disorder resulting from incoordination in the evacuation mechanism. On the other hand, functional constipation is fundamentally linked to retentive behavior related to pain and fear of evacuation and sometimes requires nutritional and/or pharmacological intervention. Studies that observed the natural history of children with dyschezia showed that there is no causal relationship between dyschezia and functional constipation, so they should be considered two different entities. Both require, for their better management, family support through educational, clear, and reassuring messages to be included in the medical consultation.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202410476"},"PeriodicalIF":0.7,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143762962","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
Clinical and epidemiological characteristics of children with mosquito-borne diseases in a tertiary hospital, Buenos Aires, Argentina, 2023. 2023 年阿根廷布宜诺斯艾利斯一家三甲医院蚊媒疾病患儿的临床和流行病学特征。
IF 0.7 4区 医学
Archivos argentinos de pediatria Pub Date : 2025-04-01 Epub Date: 2024-10-31 DOI: 10.5546/aap.2024-10415.eng
María I Deregibus, Claudia B Botana Rodríguez, Griselda Berberian, Guadalupe Pérez, Daniela Borgnia, Mariano Rovetta, Romina Lavaze, Eliana I Bagnara, María B Martínez, Ana Zlotogora, Juliana Carrafancq, Mercedes Vázquez, Miguel Melgarejo, Pablo Jaciuk, Diego I Amoedo
{"title":"Clinical and epidemiological characteristics of children with mosquito-borne diseases in a tertiary hospital, Buenos Aires, Argentina, 2023.","authors":"María I Deregibus, Claudia B Botana Rodríguez, Griselda Berberian, Guadalupe Pérez, Daniela Borgnia, Mariano Rovetta, Romina Lavaze, Eliana I Bagnara, María B Martínez, Ana Zlotogora, Juliana Carrafancq, Mercedes Vázquez, Miguel Melgarejo, Pablo Jaciuk, Diego I Amoedo","doi":"10.5546/aap.2024-10415.eng","DOIUrl":"10.5546/aap.2024-10415.eng","url":null,"abstract":"<p><p>Introduction. Arboviruses, such as dengue and chikungunya, have caused multiple epidemics in the Americas. They are transmitted through mosquito bites; Aedes aegypti is their main vector. As of January 2023, coinciding with the fourth dengue outbreak in Argentina, a new dengue outbreak was observed in the Americas, coincident with the presence of chikungunya. We considered it essential to describe the demographic, epidemiological, clinical, and evolutionary characteristics of dengue/chikungunya patients seen in a tertiary pediatric hospital in the Autonomous City of Buenos Aires in 2023. Population and methods. Descriptive, observational, retrospective cohort study. Includes children of 0 to 16 years with compatible symptomatology and positive PCR or IgM for dengue or chikungunya from February 1, 2023, through May 31, 2023. Results. A total of 168 patients were identified, with a median age of 138 months (IQR: 107-164). The diagnosis of dengue was confirmed in 140 and of chikungunya in 28. Ninety-eight percent were autochthonous cases. In 85% of the cases, PCR was used to make the virological diagnosis of dengue, and in the remaining 15%, IgM was used. PCR diagnosed chikungunya in 61% of cases. Patients with dengue fever had a longer duration of fever, abdominal pain, headache, myalgias, and retroocular pain. Exanthema and arthralgias were associated with chikungunya. Conclusions. The epidemiology of mosquito-borne diseases is dynamic and is related to what happens in the rest of the countries of South America; knowledge of it is essential to predict the etiological risk and prevalence.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202410415"},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142520805","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
[From physician paternalism to patient autonomy: 25 centuries of history]. [从医生家长制到病人自主权：25 个世纪的历史]。
IF 0.7 4区 医学
Archivos argentinos de pediatria Pub Date : 2025-04-01 Epub Date: 2024-08-01 DOI: 10.5546/aap.2023-10297
{"title":"[From physician paternalism to patient autonomy: 25 centuries of history].","authors":"","doi":"10.5546/aap.2023-10297","DOIUrl":"10.5546/aap.2023-10297","url":null,"abstract":"<p><p>From its origins, the doctor-patient relationship accompanied the social and cultural changes that have been modeling different forms of interhuman relationships. However, paternalism remained almost unchanged. Only in the 1970s, hand in hand with postmodern thought and the centrality of ethical, psychological, social and anthropological disciplines, respect for the autonomy of patients began to develop, which constituted the essence of a radical change. “Four models of doctor-patient relationship” are described depending on the objectives of the interaction between the actors, the doctor’s obligations and the patient’s values. Some particularities are detailed in the decision-making of children and adolescents, the doctrine of the\u0000mature minor, and progressive autonomy where the need for informed consent that reflects the autonomy of this age group is evident. It is worth highlighting the importance of communication in the development of a relationship in which the different models can collaborate with a genuine practice of autonomy for patients and their families.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202310297"},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141756846","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
Diencephalic syndrome in a child with chronic malnutrition. 一名长期营养不良儿童的双脑综合征。
IF 0.7 4区 医学
Archivos argentinos de pediatria Pub Date : 2025-04-01 Epub Date: 2024-10-03 DOI: 10.5546/aap.2024-10452.eng
Jessica Dingevan Cassab, Diego Rodriguez Schulz, Gonzalo Rostagno
{"title":"Diencephalic syndrome in a child with chronic malnutrition.","authors":"Jessica Dingevan Cassab, Diego Rodriguez Schulz, Gonzalo Rostagno","doi":"10.5546/aap.2024-10452.eng","DOIUrl":"10.5546/aap.2024-10452.eng","url":null,"abstract":"<p><p>Russell's diencephalic syndrome is a set of signs and symptoms characterized by extreme weight loss, with no impairment of height or head circumference, without changes in intake or appetite. It is due to hypothalamic dysfunction associated with space-occupying lesions in this region. It is a rare cause of malnutrition in pediatrics, so its diagnosis is often delayed. Here we describe the case of a 17-month-old male patient with weight loss for 3 months who was admitted to the pediatric inpatient ward due to suspected intestinal malabsorption syndrome. After ruling out the most common causes of malnutrition, the patient was diagnosed with pilomyxoid astrocytoma of the brainstem.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202410452"},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142340145","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
Failure to thrive: A proposed diagnostic approach. 未能茁壮成长：一种建议的诊断方法。
IF 0.7 4区 医学
Archivos argentinos de pediatria Pub Date : 2025-04-01 Epub Date: 2025-01-23 DOI: 10.5546/aap.2024-10422.eng
Débora N Ferreira, Klevin Araujo Canuto de Souza Granado, Taís D Russo Hortencio, Roberto J Negrão Nogueira
{"title":"Failure to thrive: A proposed diagnostic approach.","authors":"Débora N Ferreira, Klevin Araujo Canuto de Souza Granado, Taís D Russo Hortencio, Roberto J Negrão Nogueira","doi":"10.5546/aap.2024-10422.eng","DOIUrl":"10.5546/aap.2024-10422.eng","url":null,"abstract":"<p><p>Failure to thrive is a general term describing infants who do not reach weight, length, or body mass index expected for their age. It can be related often to malnutrition due to inadequate caloric and protein intake, but also to excessive loss of nutrients, inadequate metabolism, inadequate absorption, or excessive caloric and energy expenditure. It may be either organic or inorganic in origin, and in most cases, does not require investigation through complementary examinations. It is associated with social and health detrimental outcomes. Most cases of failure to thrive are of non-organic etiology, thus clinical history evaluation and physical examination are of utmost importance in the management of these patients. Therapeutics includes behavioral or nutritional interventions, as well as treatment of possible underlying diseases. The treatment approach is more effective in improving clinical outcomes if applied as early as possible.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202410422"},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142998988","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
Quality of life and social characteristics of young adults in chronic hemodialysis with pediatric-onset renal disease. 青少年慢性血液透析伴儿科肾病患者的生活质量和社会特征
IF 0.7 4区 医学
Archivos argentinos de pediatria Pub Date : 2025-04-01 Epub Date: 2024-12-26 DOI: 10.5546/aap.2024-10555.eng
Jorge R Ferraris, Rosario Luxardo, Alfredo M Eymann, Martina Turano, Soledad Crucelegui, Guillermo Rosa-Diez
{"title":"Quality of life and social characteristics of young adults in chronic hemodialysis with pediatric-onset renal disease.","authors":"Jorge R Ferraris, Rosario Luxardo, Alfredo M Eymann, Martina Turano, Soledad Crucelegui, Guillermo Rosa-Diez","doi":"10.5546/aap.2024-10555.eng","DOIUrl":"10.5546/aap.2024-10555.eng","url":null,"abstract":"<p><p>Introduction. Health-related quality of life (HRQL) and its social consequences have not been evaluated in adults who started renal replacement therapy (RRT) in childhood/adolescence and are currently on hemodialysis. Population and methods. We compared 26 patients who started their RRT at <18 years with a group that started their RRT at 18 years or more. We studied social variables and HRQL with the KDQOL-36 questionnaire. Scores >50 indicate good HRQL. Results. The study was conducted in 2018. The scores were: physical health: 55 and 58.1; mental health: 61.2 and 66.7; disease burden: 39.2 and 37.3; symptoms and problems: 75.6 and 78.5; effects: 65.9 and 51.6 (p < 0.019) for those who started RRT at pediatric age or adult age respectively. Socioeconomic status and education were similar in both groups. Fifty percent of the patients with RRT from pediatric age and 38.5% of those who started with RRT in adulthood were unemployed. In the group who started RRT at pediatric age, 61.5% lived with their parents vs. 19% of those who started RRT in adulthood; 11.5% of the patients with RRT at pediatric age had a partner vs. 42.3% of those who started RRT as adults. Conclusions. Adults with the onset of RRT in childhood who are currently on hemodialysis have a good perception of HRQL, superior to adults with a recent onset of RRT. They have a good education, but their lack of work, independent living, and having a partner is related to the burden of illness.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202410555"},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142852198","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
Ruptured aortic aneurysm in an adolescent with systemic lupus erythematosus. 一名患有系统性红斑狼疮的青少年主动脉瘤破裂。
IF 0.7 4区 医学
Archivos argentinos de pediatria Pub Date : 2025-04-01 Epub Date: 2024-10-17 DOI: 10.5546/aap.2024-10379.eng
Laura M Pérez, Marianela Fiorotto, Giselle Villarreal, María M Katsicas, Pedro Rino
{"title":"Ruptured aortic aneurysm in an adolescent with systemic lupus erythematosus.","authors":"Laura M Pérez, Marianela Fiorotto, Giselle Villarreal, María M Katsicas, Pedro Rino","doi":"10.5546/aap.2024-10379.eng","DOIUrl":"10.5546/aap.2024-10379.eng","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) is a chronic, multisystem, autoimmune disease. Cardiovascular involvement is frequent; however, aneurysm and/or aortic dissection are rare entities with fatal evolution. The objective is to describe a rare and fatal complication of SLE in pediatrics and review the literature. We present the case of a 16-year-old girl with SLE with multisystem involvement without cardiovascular disease at diagnosis. She consulted for severe chest pain. Chest X-ray showed a dilated aortic arch with no cardiomegaly. The presence of a dissection was suspected, and an angiotomography was performed. A descending aortic aneurysm without a dissection flap was confirmed. Antihypertensive treatment was started. After a Valsalva maneuver, she presented an aneurysmal rupture. She died 12 hours after admission. Aneurysm and dissection are infrequent complications in pediatric SLE. As they have high mortality, it is essential to consider them in a patient with SLE and chest pain.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202410379"},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142456839","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
Impact of single-dose varicella vaccination in Argentina, by province: a time series study. 阿根廷各省单剂水痘疫苗接种的影响：一项时间序列研究。
IF 0.7 4区 医学
Archivos argentinos de pediatria Pub Date : 2025-04-01 Epub Date: 2024-12-12 DOI: 10.5546/aap.2024-10412.eng
Guillermo G Barrenechea, Rocío Sánchez, Leonardo S Bastos
{"title":"Impact of single-dose varicella vaccination in Argentina, by province: a time series study.","authors":"Guillermo G Barrenechea, Rocío Sánchez, Leonardo S Bastos","doi":"10.5546/aap.2024-10412.eng","DOIUrl":"10.5546/aap.2024-10412.eng","url":null,"abstract":"<p><p>Introduction. Argentina implemented the varicella vaccine in 2015. This study aimed to evaluate the impact of vaccine implementation in each province of Argentina. Materials and methods. An observational, ecological analytic study using secondary data sources. We performed a time series description of varicella cases and built generalized additive models using a negative binomial distribution. We modeled the behavior of varicella in the period 2005-2014 and made a forecast of the most likely behavior until 2019. We assessed the impact by comparing expected and observed incidence rates. We studied whether 2015 was a turning point in the incidence trend in each jurisdiction. We used R and Joinpoint software. Results. Between 2005 and 2019, Argentina had an incidence rate of varicella of 5.93 cases/100,000 population. At the national level, the incidence rate significantly decreased after 2015. In Argentina in general and in 6 provinces, 2015 was a breakpoint, whereas in the rest of the provinces, it occurred before (n = 2) or after (n = 1), or there was none in the time series analyzed (n = 15). Conclusions. The work demonstrates the impact of vaccine implementation in each of Argentina's provinces and highlights the importance of evaluating national policies at the provincial level.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202410412"},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142783974","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
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