Medicina-buenos Aires最新文献_第2页

[Autism and burnout]. [自闭症和倦怠]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2025-03-01

Víctor Ruggieri

引用次数: 0

[Heritability in neurodevelopmental disorders]. [神经发育障碍的遗传性]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2025-03-01

Jesús Eirís-Puñal, E Monteagudo-Saavedra

{"title":"[Heritability in neurodevelopmental disorders].","authors":"Jesús Eirís-Puñal, E Monteagudo-Saavedra","doi":"","DOIUrl":"","url":null,"abstract":"Neurodevelopmental disorders (NDD) share two main characteristics: their high comorbidity between them and other processes - psychiatric disorders and epilepsy - and their high heritability, with a gap between that extracted through family studies (familial heritability, 0.66) and that obtained through genetic studies (genetic heritability, 0.19). There is a strong genetic correlation between NDD and different behavioral disorders, with a familial genetic correlation coefficient estimated at 0.62, suggesting a shared genetic load that encompasses these processes as well as others such as bipolar disorder, schizophrenia or depression. Missing heritability, mutational load and genetic vulnerability are important concepts for understanding the complex interactions between different NDD and their comorbidities, as well as for illustrating the discrepancy between genetic and familial heritability figures. Genetic vulnerability determines which genes are more likely to cause diseases when mutated; Mutational load accumulates the genetic effects that influence the phenotypic expression of a disorder, and the interaction between different variants (epistasis) and their accumulation, including common variants, can amplify the probability of developing a disorder. Missing heritability illustrates the proportion of heritability not explained by identified genetic variants. Although genome-wide association studies (GWAS) identify common variants associated with diseases, these usually explain only a small part of the total genetic risk. This gap can be related to different factors, including rare variants present in non-coding regions, epigenetic factors that regulate vulnerable genes, and complex interactions between genes.","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 Suppl 1 ","pages":"22-29"},"PeriodicalIF":0.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143527892","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 most serious comorbidities of ADHD: a worrying review]. [ADHD最严重的合并症：令人担忧的回顾]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2025-03-01

Germán Casas, Carolina García S, Damaris Cote Martínez

{"title":"[The most serious comorbidities of ADHD: a worrying review].","authors":"Germán Casas, Carolina García S, Damaris Cote Martínez","doi":"","DOIUrl":"","url":null,"abstract":"Attention-deficit hyperactivity disorder (ADHD) is the most prevalent neurodevelopmental disorder in children and adolescents, and it is frequently associated with a range of comorbidities. However, an analysis of critical factors -such as mortality, legal issues, access to care, and academic or occupational impairment- reveals that the most serious comorbidities of ADHD are primarily psychiatric in nature. These include depression, suicidal behaviors, substance use disorders, legal problems, and personality disorders, particularly borderline and antisocial personalities. These comorbid conditions share core features, including difficulties with self-regulation, impulsivity and repetitive behaviors. They also exhibit overlapping neurological and genetic substrates, as well as common environmental risk factors. A review of the current literature underscores the significant morbidity and adverse outcomes associated with ADHD when these comorbidities are present. Given the complexity and severity of these conditions, it is crucial for clinicians working with children and adolescents, to be vigilant about monitoring their appearance. Early recognition and intervention may help mitigate the risk of developing these associated psychiatric disorders and their long-term consequences. Furthermore, evidence suggests that timely and appropriate treatment of ADHD can play a protective role in preventing the onset of these comorbid conditions.","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 Suppl 1 ","pages":"16-21"},"PeriodicalIF":0.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143527912","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

[Neurophysiological approach to Attention Deficit Hyperactivity Disorder]. [注意缺陷多动障碍的神经生理学方法]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2025-03-01

María Ángeles Idiazábal Alecha, Montserrat Palau Baduell

{"title":"[Neurophysiological approach to Attention Deficit Hyperactivity Disorder].","authors":"María Ángeles Idiazábal Alecha, Montserrat Palau Baduell","doi":"","DOIUrl":"","url":null,"abstract":"Attention Deficit Hyperactivity Disorder (ADHD) is the most common neurodevelopmental disorder in childhood. Its diagnosis and treatment are complex due to its clinical heterogeneity and comorbid pathologies, such as epilepsy and sleep disorders, which affect its evolution and management. Studies such as electroencephalogram (EEG), quantified EEG and event related potentials (ERP) provide key neurophysiological information to better understand this disorder. EEG allows the identification of abnormal patterns such as increased frontal theta activity and increased the theta/beta ratio, which are associated with problems with attention and inhibitory control. Comorbidity between epilepsy and ADHD is high. Patients with ADHD are more likely to present subclinical interictal discharges. EEG allows us to differentiate between ADHD and epilepsy symptoms, such as typical absences, which can be confused with inattention, as well as detect the presence of interictal epileptiform discharges, improving diagnosis and treatment. ERP, such as P300, evaluate cognitive functions such as attention, working memory and inhibitory control, providing information for the diagnosis, developmental monitoring and treatment of ADHD. In parallel, sleep studies using polysomnography reveal a high prevalence of sleep disorders such as respiratory disorders and decreased REM sleep, exacerbating ADHD symptoms. Neurophysiological studies allow a more precise approach to ADHD, integrating objective diagnoses and personalized treatments that improve clinical results and long-term prognosis.","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 Suppl 1 ","pages":"42-47"},"PeriodicalIF":0.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143527895","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

[Computerized cognitive training as a treatment for ADHD: evidence summary and future directions]. [计算机化认知训练作为ADHD的治疗方法：证据总结和未来方向]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2025-03-01

Jacobo Albert, Sara López-Martín, Alberto J Sánchez-Carmona, Beatriz Calleja-Pérez, Ana L Fernández-Perrone, Nuria Muñoz-Jareño, Ana Jiménez de Domingo, Daniel Martín Fernández-Mayoralas, Alberto Fernández-Jaén

{"title":"[Computerized cognitive training as a treatment for ADHD: evidence summary and future directions].","authors":"Jacobo Albert, Sara López-Martín, Alberto J Sánchez-Carmona, Beatriz Calleja-Pérez, Ana L Fernández-Perrone, Nuria Muñoz-Jareño, Ana Jiménez de Domingo, Daniel Martín Fernández-Mayoralas, Alberto Fernández-Jaén","doi":"","DOIUrl":"","url":null,"abstract":"Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by inattention and/or hyperactivity/impulsivity, which is associated with various neuropsychological deficits. These deficits are thought to mediate the relationship between etiological factors and the manifestation of the disorder, making them important targets for treatment. Within this context, and based on promising results, computerized cognitive training (CCT) through adaptive programs and/or video games has garnered considerable interest. Therapeutic programs and video games for ADHD have even been commercialized. However, the most rigorous and reliable evidence currently available suggests that CCT, in its current forms, lacks sufficient empirical support to be considered either a standalone or an alternative treatment to first-choice interventions for ADHD. Its effects on core ADHD symptoms are modest and limited, with minimal transfer or generalization to other contexts or functional skills. The complexity of ADHD suggests that highly specific, singular interventions such as CCT may be neither appropriate nor sufficient as standalone treatments. Further research is needed to evaluate the added effects of CCT when integrated with existing treatments, including its role within more holistic and comprehensive neuropsychological interventions.","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 Suppl 1 ","pages":"30-35"},"PeriodicalIF":0.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143527887","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

[Scimitar syndrome]. (弯刀综合症)。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2025-01-01

Jacqueline M Galiano, Kevin Santana Alessio, Carlos A Soler

引用次数: 0

"I would prefer not to". Autonomy and the boundaries of medical intervention. “我不愿意。”自主性和医疗干预的界限。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2025-01-01

Gustavo Kusminsky

引用次数: 0

[Ectopic ACTH secretion by neuroendocrine carcinoma of the uterine cervix]. [宫颈神经内分泌癌异位分泌促肾上腺皮质激素]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2025-01-01

Eugenia C Authier Cipolla, Mara R Touriñan, Carolina B Lamonica, Agostina R Bazzi, Noelia Y Scagliarino, Silvina Tormo, Julieta Guyot, Paola C Vigna, Evangelina Giacoia

{"title":"[Ectopic ACTH secretion by neuroendocrine carcinoma of the uterine cervix].","authors":"Eugenia C Authier Cipolla, Mara R Touriñan, Carolina B Lamonica, Agostina R Bazzi, Noelia Y Scagliarino, Silvina Tormo, Julieta Guyot, Paola C Vigna, Evangelina Giacoia","doi":"","DOIUrl":"","url":null,"abstract":"Cushing's syndrome due to ectopic ACTH secretion (EAS) is a consequence of deregulated ACTH secretion by neuroendocrine neoplasms with different locations, most commonly in the thorax. Neuroendocrine tumors represent less than 2% of all invasive cervical cancers. They tend to be highly aggressive, showing rapid growth and distant metastasis at the time of diagnosis. We present a 25-year-old female, with no relevant medical history, who came to our hospital with 1-monthold acne-like lesions on the face, neck, and chest, facial edema, blurred vision, and progressed with delirium, incoherent speech, and suicidal ideation. Hypertension, hypokalemia, hyperglycemia, and metabolic alkalosis were found. The condition was interpreted as a severe, rapid-onset Cushing's syndrome, with significant compromise in general condition. The syndrome and its dependence on ACTH were confirmed by biochemical tests. Computed tomography revealed multiple lesions in the liver and spine suggesting metastatic cancer. After reporting a history of postcoital bleeding, a speculoscopy was performed, and a biopsy was taken of the cervix, as well as the liver lesions. In both cases, histopathological findings revealed the presence of small cell neuroendocrine carcinoma, and chemotherapy with cisplatin and etoposide was initiated. This case represents an example of an uncommon disease that usually implies an important diagnostic and therapeutic challenge. The severity of this condition may be a consequence of the aggressiveness of the ACTH-secreting tumor and/or hypercortisolism with its multiple complications.","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 2","pages":"439-444"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803703","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

[In-hospital mortality from cerebrovascular accidents in an urban center in Argentina]. [阿根廷城市中心的脑血管意外住院死亡率]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2025-01-01

María Martina Echarri, Federico Rodríguez Lucci, Virginia Pujol Lereis, Marina Y Finkelsztein, Claudio D González, Sebastián F Ameriso

{"title":"[In-hospital mortality from cerebrovascular accidents in an urban center in Argentina].","authors":"María Martina Echarri, Federico Rodríguez Lucci, Virginia Pujol Lereis, Marina Y Finkelsztein, Claudio D González, Sebastián F Ameriso","doi":"","DOIUrl":"","url":null,"abstract":"Introduction: In-hospital mortality is influenced by various factors. Despite the trend toward decreased mortality from acute stroke in the Northern Hemisphere, reports in our region show variable figures. This study reports in-hospital mortality for the second time from a medical center in Ciudad de Buenos Aires. Factors associated with mortality in these patients were also identified.Materials and methods: A retrospective study was conducted using data from the FLENI Stroke Database between 2010 and 2019, analyzing clinical characteristics, risk factors, complications, and mortality of hospitalized patients. Univariable and multivariable statistical analyses were used to identify risk factors associated with in-hospital mortality.Results: Data from 1645 patients were analysed, of which 1476 (90%) had ischemic stroke, 95 (6%) had hemorrhagic stroke, and 74 (4%) had aneurysmal subarachnoid hemorrhage (aSAH). There were 45 in-hospital deaths (2%): 26 deaths (1%) from ischemic stroke, 11 deaths (11%) from hemorrhagic stroke, and 8 deaths (10%) from aSAH. Factors associated with mortality include advanced age, low hemoglobin levels at admission, higher scores on the NIHSS scale at admission, and a history of diabetes mellitus.Discussion: In-hospital mortality from stroke remains low in our institution, with differences between ischemic and hemorrhagic stroke. Factors such as stroke severity, hemoglobin levels, and a history of diabetes mellitus are independent predictors of mortality.","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 2","pages":"337-347"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803707","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

[Dismantling the National Cancer Institute: An unacceptable setback for Public Health]. [解散国家癌症研究所：公共卫生不可接受的挫折]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2025-01-01

Graciela Jacob

引用次数: 0