Medicina-buenos Aires最新文献

[Content validity and linguistic suitability of an ADHD assessment tool based on DSM-5 for parents and teachers: preliminary study]. [基于DSM-5的ADHD家长和教师评估工具的内容效度和语言适宜性：初步研究]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-08-01

Myriam Velarde-Incháustegui, Marcos Espinola-Sánchez, Aland Cardenas-Soza, Claudia Guevara-Cordero, Maritza Pintado-Caipa, Myriam Gómez-Velarde, Elizabeth Rojas-Huamancaja, Leidi Vilchez-Fernandez, Walter Gómez-Galiano, Arturo Ruiz-Paredes

{"title":"[Content validity and linguistic suitability of an ADHD assessment tool based on DSM-5 for parents and teachers: preliminary study].","authors":"Myriam Velarde-Incháustegui, Marcos Espinola-Sánchez, Aland Cardenas-Soza, Claudia Guevara-Cordero, Maritza Pintado-Caipa, Myriam Gómez-Velarde, Elizabeth Rojas-Huamancaja, Leidi Vilchez-Fernandez, Walter Gómez-Galiano, Arturo Ruiz-Paredes","doi":"","DOIUrl":"","url":null,"abstract":"This study aimed to establish the linguistic validity of content on a scale based on DSM-5 criteria to evaluate symptoms of Attention Deficit Hyperactivity Disorder (ADHD) in children and adolescents, aimed at parents and teachers. It is a psychometric instrumental research, which included the participation of nine experts in ADHD and a pilot test with fifteen parents and teachers, in order to adapt the instrument to the sociocultural characteristics of the Spanish-speaking population. The methodology used is rigorous and appropriate for the proposed objective. The V-Aiken coefficient was used to estimate the validity of content, considering values ≥ 0.80 as acceptable, and was complemented with a qualitative analysis of the expert comments and a pilot test with parents and teachers in order to evaluate the understanding and contextual adequacy of the items. Most of the items (72.2%) showed high inter-evaluative concordance, some required semantic and contextual adjustments. The conclusions support the validity of the scale content and its potential usefulness in future psychometric evaluations.","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 Suppl 3 ","pages":"104-109"},"PeriodicalIF":0.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840671","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

[Metabolic diseases caused by alterations in transporters]. [由转运蛋白改变引起的代谢性疾病]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-08-01

Jaume Campistol

引用次数: 0

[Recognition of the legacy of the íbero-American Academy of Pediatric Neurology to Dr. Oscar Papazian]. [表彰íbero-American儿科神经病学学会对Oscar Papazian博士的贡献]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-08-01

Hugo A Arroyo

引用次数: 0

[Autism - Phenotypic variability]. [自闭症-表型变异]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-08-01

Víctor Ruggieri

{"title":"[Autism - Phenotypic variability].","authors":"Víctor Ruggieri","doi":"","DOIUrl":"","url":null,"abstract":"Autism is a neurodevelopmental disorder with a neurobiological basis, affecting 1 in 31 people, with a male predominance (3.8 to 1). Characterized by deficits in social cognition and communication, restricted interests, and stereotyped behaviors, along with sensory processing difficulties, this condition accompanies individuals throughout their lives, with variations in its progression. According to support needs, it is divided into levels 1 (mild), 2 (moderate), and 3 (severe). While the classification is clear, it does not include clinical subtypes related to the presence of neurodevelopmental and psychiatric disorders, genetic bases, neurogenetic entities, and/or variations in its progression. In this work, I will analyze some frequently observed autistic phenotypes not described in the DSM-5 and delve into four specific ones, recently defined in the literature, that show a genotype-phenotype correlation. These are: 1. Social and behavioral autismo, 2. Mixed autism with developmental delay, 3. Moderate autism, and 4. Widespread autism. Different genes and their expression timing were identified in these phenotypes, suggesting a pre- and postnatal temporality that impacts clinical presentation and age of diagnosis. Identifying different phenotypes facilitates research and allows for a phenotype/genotype correlation, defining clinical profiles and therapeutic guidance.","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 Suppl 3 ","pages":"48-53"},"PeriodicalIF":0.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840641","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

[Electroclinical recognition of SCN2A, SCN8A, KCNQ2, and KCNQ3 pathogenic variants]. [SCN2A、SCN8A、KCNQ2和KCNQ3致病变异的电临床识别]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-08-01

Juan P Appendino

{"title":"[Electroclinical recognition of SCN2A, SCN8A, KCNQ2, and KCNQ3 pathogenic variants].","authors":"Juan P Appendino","doi":"","DOIUrl":"","url":null,"abstract":"Genetic epilepsies presenting in the neonatal period and early infancy require time-critical, mechanism-aware decisions. Amplitude-integrated EEG (aEEG) provides continuous bedside screening in the NICU, but its yield improves when seizures are confirmed and characterized with multichannel conventional EEG (referred to here as rEEG; the term \"continuous EEG or cEEG\" is reserved for prolonged monitoring). In KCNQ2/KCNQ3 and SCN2A channelopathies, a distinctive ictal aEEG sequence-brief initial attenuation/decrease, rapid rise, and postictal depression-correlates with reproducible ictal features on rEEG/cEEG. Recognizing this signature may prompt rapid genetic testing and, when clinically appropriate, earlier targeted therapy with sodium-channel blockers, reducing prolonged ineffective polytherapy. SCN8A shows broader electroclinical heterogeneity without a single signature; however, normal brain MRI combined with high early seizure burden (often bilateral tonic-clonic seizures) and a progressively abnormal EEG should raise suspicion. This narrative review provides a pragmatic framework for SCN2A, SCN8A, KCNQ2, and KCNQ3, integrates the phenotype spectrum (including self-limited forms with potentially normal EEG), highlights safety considerations (including SUDEP), and briefly summarizes emerging precision-therapy under clinical investigation.","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 Suppl 3 ","pages":"78-83"},"PeriodicalIF":0.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840692","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

[Self-limiting focal epilepsies of childhood and adolescence: literature update (2022-2026)]. [儿童和青少年自限性局灶性癫痫：文献更新（2022-2026）]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-08-01

Bolívar Quito-Betancourt

引用次数: 0

[Guidelines for Serotonin Syndrome in Pediatrics]. [儿科学血清素综合征指南]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-08-01

Diego Moreno, Alcy Torres, Juan Pablo Appendino

{"title":"[Guidelines for Serotonin Syndrome in Pediatrics].","authors":"Diego Moreno, Alcy Torres, Juan Pablo Appendino","doi":"","DOIUrl":"","url":null,"abstract":"This document is presented as a narrative guide based on the available evidence, adapted to the pediatric population. Since clinical trials in children are nonexistent, much of the information comes from case reports, narrative reviews, and extrapolation from adult studies. Serotonin syndrome is a potentially life-threatening condition caused by excessive serotonergic activity within the central nervous system. It is clinically characterized by a triad of neuromuscular hyperactivity, autonomic instability, and altered mental status. Diagnosis is clinical and relies on recent exposure to serotonergic agents and the application of the Hunter Criteria, which show high sensitivity and specificity in adults and are extrapolated to pediatric patients. Causative agents include selective serotonin reuptake inhibitors, monoamine oxidase inhibitors, analgesics such as tramadol and fentanyl, antibiotics like linezolid, antiemetics, recreational drugs, and herbal supplements. Management involves immediate discontinuation of the offending agent and supportive care, including hydration, benzodiazepines to control agitation, and external cooling measures. In moderate to severe cases, cyproheptadine may be used as a serotonin antagonist. Most patients recover within 24 to 72 hours after appropriate treatment. The prognosis is favorable when the syndrome is recognized early; however, delayed diagnosis can result in serious complications such as rhabdomyolysis, renal failure, or coagulopathies. Prevention relies on cautious prescribing, identification of potential drug interactions, and family education regarding safe medication storage. Further research is needed in pediatric populations to validate diagnostic criteria and optimize therapeutic strategies.","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 Suppl 3 ","pages":"162-171"},"PeriodicalIF":0.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840690","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

[Chronic immunomodulatory treatment in MOGAD: Experience in Latin America]. [MOGAD的慢性免疫调节治疗：拉丁美洲的经验]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-08-01

Andrea Savransky

引用次数: 0

[Tremor]. [地震]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-08-01

Federico Baltar-Yanes, Antonieta Mahfoud-Hawilou, Florencia Pérez-Vidarte, Manuel Vides, Maria Paz Debitonto-Varini, Alonso Zea Vera

{"title":"[Tremor].","authors":"Federico Baltar-Yanes, Antonieta Mahfoud-Hawilou, Florencia Pérez-Vidarte, Manuel Vides, Maria Paz Debitonto-Varini, Alonso Zea Vera","doi":"","DOIUrl":"","url":null,"abstract":"Tremor is one of the most common movement disorders encountered in pediatric clinical practice and encompasses a broad spectrum of clinical presentations, etiologies, and outcomes. It is defined as an involuntary, rhythmic, oscillatory movement, and its evaluation in childhood is challenging due to phenotypic variability, limited standardization of complementary studies, and reliance on clinical observation. These recommendations from the Ibero-American Academy of Pediatric Neurology (AINP) aim to provide a practical and updated approach to the classification, diagnostic evaluation, treatment, and prognosis of tremor in pediatric patients. The two-axis classification proposed by the International Parkinson and Movement Disorder Society is adopted, distinguishing clinical phenotype from underlying etiology. The main forms of tremor observed in neonates, children, and adolescents are reviewed, including benign developmental tremors, tremors secondary to neurological, metabolic, genetic, pharmacological, and functional disorders, as well as specific syndromes such as essential tremor, dystonic tremor, and cerebellar tremor. Indications for complementary studies, including laboratory testing, neuroimaging, neurophysiology, and genetic testing, are discussed, emphasizing their use in the presence of clinical red flags. Treatment should be individualized according to etiology and functional impact, prioritizing non-pharmacological interventions and reserving pharmacological and invasive therapies for selected cases. Overall, many pediatric tremors have a benign course; however, early etiological recognition is essential to prevent sequelae and optimize prognosis.","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 Suppl 3 ","pages":"137-148"},"PeriodicalIF":0.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840803","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

[Sturge-Weber syndrome: comparative analysis between clinical manifestations and neuro-radiological findings]. [Sturge-Weber综合征：临床表现与神经影像学表现的比较分析]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-08-01

María Paula Ramos, María Celeste Buompadre

{"title":"[Sturge-Weber syndrome: comparative analysis between clinical manifestations and neuro-radiological findings].","authors":"María Paula Ramos, María Celeste Buompadre","doi":"","DOIUrl":"","url":null,"abstract":"Introduction: Sturge-Weber syndrome is a rare neurocutaneous disorder. The extent of leptomeningeal angioma has been associated with greater neurological severity.Objective: To analyze the correlation between clinical phenotype severity and neuroradiological findings in a cohort of patients with Sturge-Weber syndrome.Methods: We conducted a retrospective, descriptive, longitudinal study of patients diagnosed between 2009 and 2024 who underwent contrast-enhanced brain MRI. Clinical variables included epilepsy, stroke-like episodes, status epilepticus, headache, hemiparesis, and academic difficulties. MRI findings (unilateral vs. bilateral angioma; supratentorial vs. supra- and infratentorial involvement) were correlated with clinical features. Statistical analysis was performed using Fisher's exact test.Results: Twenty-two patients (3-16 years) were included. Epilepsy occurred in 91%, with a mean onset age of 6.6 months; 64% developed status epilepticus and 27% drug-resistant epilepsy. Among patients with bilateral leptomeningeal angioma, 67% developed drug-resistant epilepsy, with a median onset of 2 months. Stroke-like episodes were observed in 64% and migraine-like headache in 36%. MRI showed unilateral angioma in 86% and bilateral involvement in 13%; 23% had infratentorial extension.Conclusions: In our cohort, early-onset epilepsy was highly prevalent. Bilateral leptomeningeal angioma and calcifications were associated with a more severe clinical phenotype, characterized by earlier seizure onset, higher rates of drug resistance, and cognitive impairment. Infratentorial involvement was also associated with increased intellectual disability.","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 Suppl 3 ","pages":"97-103"},"PeriodicalIF":0.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840814","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