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[Neonatal epileptics syndromes]. [新生儿癫痫综合征]。
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2024-09-01
Graciela Del Pilar Guerrero Ruiz
{"title":"[Neonatal epileptics syndromes].","authors":"Graciela Del Pilar Guerrero Ruiz","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Neonatal epileptic syndromes are part of the genetic and metabolic epilepsies in this age group. Although they are not the most frequent cause of neonatal seizures, their early recognition allows for better diagnostic and therapeutic approaches. These syndromes can be classified into self-limited neonatal syndromes and early infantile epileptic and developmental encephalopathies (EIDEE). While they may share semiology in some types of seizures, such as sequential, and even share alterations in common genes in their etiology, their evolution is very different. In self-limited neonatal syndromes, seizures typically resolve within the first months of life with normal psychomotor development, giving rise to the term self-limited. However, the term benign should not be used as some may present recurrence of seizures, movement disorders, or learning disorders. In the case of EIDEE, seizures are usually refractory to treatment, affecting brain functions and neurodevelopment. In this review, our aim was to describe the electroclinical phenotype of neonatal epileptic syndromes, the most frequently involved genes and their clinical spectrum, their diagnostic approach, as well as the recommended treatments.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"75-80"},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349714","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
[Rare diseases: unraveling the biological bases to find future therapies]. [罕见疾病：揭开生物学基础，寻找未来疗法]。
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2024-09-01
Mercedes Serrano
{"title":"[Rare diseases: unraveling the biological bases to find future therapies].","authors":"Mercedes Serrano","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Rare diseases are characterized by low prevalence and high complexity, affecting millions globally. Although technologies like massive sequencing improve diagnose, therapeutic options remain largely symptomatic or palliative, with few curative treatments approved. In the context of rare diseases, especially genetic neurodevelopmental disorders, therapy development faces obstacles such as phenotypic variability, diverse molecular mechanisms, and complexities in assessing neurodevelopment in natural history and clinical trials. Current strategies include drug repositioning, biomarker development, and a multilateral approach in seeking solutions, offering hope. This work reviews various strategies in developing therapies, from gene therapy and epigenetic therapies to identifying biological targets.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"9-14"},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349718","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
[Non-surgical treatment of refractory epilepsy in children]. [儿童难治性癫痫的非手术治疗]。
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2024-09-01
Juan Pablo Appendino, Carlos I Salazar
{"title":"[Non-surgical treatment of refractory epilepsy in children].","authors":"Juan Pablo Appendino, Carlos I Salazar","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Approximately 30% of people with epilepsy will be refractory. This manuscript reviews current evidencebased non-surgical treatment modalities for pediatric refractory epilepsy, including pharmacological and dietary strategies.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"63-68"},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349715","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
[Sleep in chronic neuropediatric diseases]. [慢性神经儿科疾病中的睡眠]。
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2024-09-01
Alberto Navarro Vergara, Oscar Sans Capdevilla, Gabriel González Rabelino
{"title":"[Sleep in chronic neuropediatric diseases].","authors":"Alberto Navarro Vergara, Oscar Sans Capdevilla, Gabriel González Rabelino","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The prevalence of sleep disorders (SD) is notoriously increased in children with chronic neurological disease, with a negative bidirectional link that aggravates their symptomatology and has a negative impact on the quality of life of the child and their families. Identifying and recognizing this association is key for the child neurologist since the treatment of SD significantly improves daytime symptomatology in neurodevelopmental disorders, epilepsy, primary headaches, cerebral palsy and neuromuscular diseases.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"93-98"},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349720","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
[Autism: associated medical conditions]. [自闭症：相关医疗条件]。
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2024-09-01
Víctor Ruggieri
{"title":"[Autism: associated medical conditions].","authors":"Víctor Ruggieri","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Autism will accompany people throughout life with variations in its evolution and is frequently associated with other neurodevelopmental disorders (intellectual disability, attention deficit hyperactivity disorder, motor clumsiness, language disorder), neuropsychiatric disorders (depression, anxiety, schizophrenia, catatonia), epilepsy, sleep disorders, gastrointestinal disorders. In addition to the disorders typical of autism, we must consider an entire range of conditions, since their identification and adequate treatment will allow a better quality-of-life for people with autism. In 35% of cases, we can identify neurogenetic conditions which will allow us to prevent or identify associated medical entities. In this work we will analyze two groups, in a purely organizational way, medical conditions associated with defined entities (Down, Angelman, Fragile X, Rett, Phelan-McDermid and Timothy syndromes) and those that can be consistently associated in people with autism without an identified entity.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"39-44"},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349706","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
[Rett syndrome: from pathophysiology to developments in treatment]. [雷特综合征：从病理生理学到治疗进展]。
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2024-09-01
Ana M Cabal-Herrera, Christopher W Beatty
{"title":"[Rett syndrome: from pathophysiology to developments in treatment].","authors":"Ana M Cabal-Herrera, Christopher W Beatty","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Rett Syndrome (RTT) is a neurodevelopment disorder which primarily affects females and is caused by pathogenic variants in the MECP2 gene. The disease has a characteristic developmental regression resulting in impairment of expressive language, hand skills, and ambulation that is accompanied by hand stereotypies. The goal of this article it to provide an overview of the diagnosis, natural history, and treatment.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"45-49"},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349719","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
[Angelman syndrome: current approach and the future of therapies]. [安杰尔曼综合征：当前的方法和未来的疗法]。
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2024-09-01
Erick Sell, Jessica Heymans
{"title":"[Angelman syndrome: current approach and the future of therapies].","authors":"Erick Sell, Jessica Heymans","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Angelman syndrome is a severe neurodevelopmental disorder secondary to disruption of the UBE3A gene in the maternal allele of chromosome 15. Its manifestations are mainly neurological, but a multidisciplinary management is required for its treatment. There are consensus guidelines available for best clinical management. Current clinical trials with antisense oligonucleotides promise, for the first time, to treat the cause by activating the UBE3A gene in the paternal allele, showing encouraging preliminary clinical effects. Inoculation of UBE3A gene through a viral vector has been tested in animal models and is underway for future clinical trials.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"15-20"},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349705","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
[Epileptic syndromes in pediatrics. What's new?] [儿科癫痫综合征，有什么新进展？］
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2024-09-01
Jorge Vidaurre, John Mytinger
{"title":"[Epileptic syndromes in pediatrics. What's new?]","authors":"Jorge Vidaurre, John Mytinger","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The classification of epilepsy syndromes in pediatrics has undergone significant changes. In 2017, the International League Against Epilepsy Task Force on Nosology and Definitions proposed a new classification and definition and established mandatory, exclusionary, and alert criteria for the diagnosis of the different syndromes. The goal of this article is not to provide an extensive review of each syndrome, but to focus on syndromes that suffered important changes in terminology and/or when consensus or new methods to improve diagnosis and treatment have been designed.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"56-62"},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349709","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
[Ethical considerations in the management of premature newborns with severe intraventricular hemorrhage]. [处理严重脑室内出血早产新生儿的伦理考虑]。
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2024-09-01
Alfredo Cerisola, Fernando Silvera
{"title":"[Ethical considerations in the management of premature newborns with severe intraventricular hemorrhage].","authors":"Alfredo Cerisola, Fernando Silvera","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Intracranial hemorrhage continues to be a prevalent pathology in preterm newborns, especially in those with lower gestational age and birth weight. It occurs more frequently in the first days of life, and the severity of bleeding is directly related to the degree of immaturity and other conditions of the patient. Intracranial hemorrhage is associated with a significant increased risk of mortality and, in those who survive, it is associated with an increased risk of neurodevelopmental disorders and long-term disability. Establishing an accurate prognosis is essential but frequently it is difficult to assay, dealing with uncertainty that healthcare team and the family must consider when they have to decide about the goals of care to provide to the newborn, including withholding or withdrawing life support treatments. Reflections regarding the best interest of the newborn, the complexity of quality-of-life, end-of-life shared decision-making process, uncovered biases, parental values, emotions, preferences and hopes, should be included in these challenging bioethical considerations and communications with the family.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"87-92"},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349710","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
[Genetic testing in neurological diseases: a practical guide]. [神经系统疾病的基因检测：实用指南]。
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2024-09-01
Claudia Arberas
{"title":"[Genetic testing in neurological diseases: a practical guide].","authors":"Claudia Arberas","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>During the last decades, genomic medicine has made it possible to bring the knowledge of molecular genetics to the field of medical consultation. There are several studies that contribute to the diagnosis, the definition of prognoses, as well as the possibility of providing genetic counseling based on accurate scientific data. Advances in genomic sequencing have promoted the reclassification of entities according to an etiological criterion. Such is the case of epileptic encephalopathies, ataxias, dystonias, among many other neurological conditions. Its implementation requires strategies aimed at achieving the best diagnostic yield. This requires a greater understanding of the molecular bases of each of these practices, as well as their scope. They allow reducing the time until a certain diagnosis is made and the possibility, in some cases, of improving the quality of life of those affected with the use of tailored treatments. The objective of this article was to describe current laboratory studies, their scope and emphasize the algorithms for the study of genetic diseases in general, focusing the attention on those specific to neuropediatrics, in order to promote good practices, avoiding confusion, errors, and unnecessary expenditures of money and shortening the so-called \"diagnostic odyssey\".</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"21-25"},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349711","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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