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[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
[Palliative care in children with severe neurological diseases]. [严重神经系统疾病儿童的姑息治疗]。
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2024-09-01
Federico Baltar Yanes, Leticia Fuentes
{"title":"[Palliative care in children with severe neurological diseases].","authors":"Federico Baltar Yanes, Leticia Fuentes","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Pediatric palliative care focuses on improving the quality-of-life in children with severe illnesses and their families, addressing relief of pain and other physical symptoms, as well as emotional, social and spiritual support. Its approach is comprehensive and multidisciplinary. Severe neurological diseases are life-limiting and threatening, significantly affecting the well-being of the child. The families of these children face significant stress and need support to make complex decisions about them. This includes advance care planning, setting therapeutic goals, and end-of-life decisions. Early intervention can improve quality-of-life, reduce unnecessary hospitalizations, and provide emotional support for the family. Coordination between different health services is essential to ensure patient-centered care. Education and training of health professionals in this field are essential to improve the care of these children.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"81-86"},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349716","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
[Quo vadis, Ibero-American Academy of Pediatric Neurology?] [伊比利亚-美洲小儿神经病学学会，你还好吗？］
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2024-09-01
Alfredo Cerisola, María Teresa Acosta
{"title":"[Quo vadis, Ibero-American Academy of Pediatric Neurology?]","authors":"Alfredo Cerisola, María Teresa Acosta","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"1-2"},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349717","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
[Contribution of the Ibero-American Academy of Neuropediatrics to the knowledge of self-limited epilepsy in infants]. [伊比利亚-美洲神经儿科学会对婴儿自限性癫痫知识的贡献]。
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2024-09-01
Roberto H Caraballo
{"title":"[Contribution of the Ibero-American Academy of Neuropediatrics to the knowledge of self-limited epilepsy in infants].","authors":"Roberto H Caraballo","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Since the first presentation at the IV Iberoamerican Academy of Neuropediatrics Congress in 1995, our group has studied self-limited infantile epilepsy (SeLIE), both familial and non-familial, corroborating that they belong to the same entity due to their clinical and electroencephalographic characteristics and excellent prognosis. Associations were found with paroxysmal dyskinesias and migraine, as well as with hemiplegic migraine, episodic ataxia and intellectual disability in atypical cases. Mutations in PRRT2 are the main cause of SeLIE, however, other genes, such as SCN2A, KCNQ2-3 and SCN8A, have been recognized. Drugs for focal seizures that act on sodium channels are indicated. In emergencies, during cluster seizures, the use of benzodiazepines is important. In this publication, we review our contribution in SeLIE from our first report to the present and review the existing literature on the subject.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"3-8"},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349707","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
[The impact of congenital heart disease on neurodevelopment]. [先天性心脏病对神经发育的影响]。
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2024-09-01
Hugo A Arroyo, Mariel Foti
{"title":"[The impact of congenital heart disease on neurodevelopment].","authors":"Hugo A Arroyo, Mariel Foti","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>It is estimated that about 1 in 100 live births has a congenital heart disease (CHD). Cognitive deficit, academic difficulties, and behavioral abnormalities, in combination, represent the most common morbidity affecting quality of life in survivors with CHD. Developmental dysfunction results from a complex interaction between patient-specific factors such as genetic susceptibility, cardiac diagnosis, fetal development, and environmental factors such as preoperative events, supportive techniques during surgical repair, postoperative events, socioeconomic status. A comprehensive neurodevelopmental assessment in all children with CHD is critical to identify any need for intervention early and provide the support needed to optimize their long-term development.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"50-55"},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349721","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
[Epilepsy or functional neurological disorder. Diagnostic strategies]. [癫痫或功能性神经紊乱。 诊断策略]。
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2024-09-01
Jaume Campistol
{"title":"[Epilepsy or functional neurological disorder. Diagnostic strategies].","authors":"Jaume Campistol","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A seizure is the manifestation of symptoms or signs produced by excessive or synchronous neuronal activity in the brain. It usually presents as brief, self-limited episodes of involuntary movements that can affect a part or the entire body and that are sometimes accompanied by loss of consciousness and sphincter control. Epilepsy may be considered after a single unprovoked seizure in a patient with a high risk of recurrence. Paroxysmal non-epileptic disorders are defined as episodes of sudden onset and short duration that imitate an epileptic seizure, caused by a brain dysfunction of diverse origin that, unlike epilepsy, is not due to excessive neuronal discharge. Its incidence is much higher than epilepsy and it can appear at any age. It is important for diagnosis to analyze the triggering factors, the details of each episode, physical examination and only proceed to basic complementary tests such as video-electroencephalogram in case of doubt or for diagnostic confirmation. There is a tendency to overdiagnose epilepsy and excessive use of anticonvulsant drugs. Those that can most frequently be confused are syncope, \"daydreams\" and pseudoseizures.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"69-74"},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349708","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
[Guide to neurological follow-up in premature newborns]. [早产新生儿神经系统随访指南]。
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2024-09-01
Taha F Khan, Amanda M Romeu, Mildred Franco-Liñán, Alcy R Torres
{"title":"[Guide to neurological follow-up in premature newborns].","authors":"Taha F Khan, Amanda M Romeu, Mildred Franco-Liñán, Alcy R Torres","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>One in ten babies are born preterm, as defined as being less than 37 weeks of gestational age. Premature births are associated with a high risk of poor neurodevelopmental outcomes, including hearing, visual, motor, and cognitive impairments. Currently, there is no specific standardization for neurological follow-up infants born premature. Most formal neonatal intensive care units, follow-up programs monitor children until early childhood. However, some deficits, such as mild cognitive impairment, may only become apparent in school years. This review outlines a neurological follow-up timeline, as well as the different standardized measures that can be used to monitor development to ensure that children born preterm receive timely and appropriate therapies and services.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"26-31"},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349712","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
[Malformations of cortical development: what's new?] [皮层发育畸形：有什么新发现？］
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2024-09-01
María Celeste Buompadre
{"title":"[Malformations of cortical development: what's new?]","authors":"María Celeste Buompadre","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Malformations of cortical development (MCDs) are structural abnormalities that disrupt the normal process of cortical development in utero. MCDs include microcephaly with simplified gyral pattern/microlyssencephaly, hemimegalencephaly, focal cortical dysplasia, lissencephaly, heterotopia, polymicrogyria, and schizencephaly. The debut of MCD can be with pharmacoresistant epilepsy, developmental delay, neurologic deficits, or cognitive impairment. The diagnostic pathway for MCDs is complex owing to wide variations in presentation and etiology. Although the definitive diagnosis of MCD depends on histopathology, neuroimages have an important role in this process. Furthermore, knowing the disturbance of the molecular pathway involved is important. Increased understanding of the molecular biology and recent advances in genetic testing have caused rapid growth in the knowledge of the genetic causes of MCDs, allowing for information on prognosis, recurrence risk, and prediction of treatment outcomes.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"32-38"},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349713","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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