Revista de neurologia最新文献

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Neurologic comorbidity in psychiatric inpatients: evidence from neurologic consultations in a Spanish center. 精神病住院患者的神经系统并发症:一家西班牙中心神经科会诊的证据。
IF 0.8 4区 医学
Revista de neurologia Pub Date : 2024-07-01 DOI: 10.33588/rn.7901.2024054
C Peña-Salazar, N Kazah, B Carrillo, C Díaz, A Callén, A Serrano-Blanco, I Aznar-Lou
{"title":"Neurologic comorbidity in psychiatric inpatients: evidence from neurologic consultations in a Spanish center.","authors":"C Peña-Salazar, N Kazah, B Carrillo, C Díaz, A Callén, A Serrano-Blanco, I Aznar-Lou","doi":"10.33588/rn.7901.2024054","DOIUrl":"10.33588/rn.7901.2024054","url":null,"abstract":"<p><strong>Introduction: </strong>The presence of psychiatric comorbidity in some neurological disorders is common. A bi-directional influence between some psychiatric and neurological disorders has been discussed, but not widely studied. There is an absence of literature on the typology and rates of neurology consultations in different types of psychiatric inpatients.</p><p><strong>Materials and methods: </strong>Cross-sectional study based on real world data on patients who had a neurological consultation during hospitalization on a psychiatric ward.</p><p><strong>Results: </strong>The most frequent reasons for visits to neurologists in our study were cluster 'Epilepsy/other types of non-epileptic seizures' (n = 177, 36.44%), followed by cluster 'Movement disorders' (n = 77, 20.48%), 'Cognitive disorder' (n = 69, 18.35%), and finally cluster 'Neuropathy' (n = 21, 5.59%). The most frequent type of psychiatric patient who required neurologic consultation presented a psychotic disorder (n = 100, 26.60%), follow by problem behavior (n = 82, 21.81%), bipolar disorder (n = 78, 20.78%), depressive disorder (n = 42, 11.17%) and autism spectrum disorder (n = 20, 5.32%). We found a statistically significant relationship between (problem behavior and intellectual disability) and neurologic consultation for epilepsy/other types of non-epileptic seizures, and between (depressive disorder, bipolar disorder, autism spectrum disorder and intellectual disability) and neurologic consultation for movement disorders.</p><p><strong>Conclusions: </strong>This is the first study in the literature which analyzes the rates and typology of neurologic consultations in people hospitalized with psychiatric disorders. A deep knowledge of epilepsy, movement disorders and cognitive disorders should be required for health professionals to treat psychiatric inpatients appropriately. Patients with particular psychiatric disorders seem to require a higher number of neurologic consultations than others during their hospitalization.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11468033/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Glycemic variability after mechanical thrombectomy for anterior circulation acute ischemic stroke. 前循环急性缺血性脑卒中机械血栓切除术后的血糖变化。
IF 0.8 4区 医学
Revista de neurologia Pub Date : 2024-07-01 DOI: 10.33588/rn.7901.2023356
A Cabral, A Carvalho, P Barros, M Ribeiro, S Castro, P Calvão-Pires, M Rodrigues, H Costa, V Battistella, T Gregório, L Paredes, M Veloso, M Rocha
{"title":"Glycemic variability after mechanical thrombectomy for anterior circulation acute ischemic stroke.","authors":"A Cabral, A Carvalho, P Barros, M Ribeiro, S Castro, P Calvão-Pires, M Rodrigues, H Costa, V Battistella, T Gregório, L Paredes, M Veloso, M Rocha","doi":"10.33588/rn.7901.2023356","DOIUrl":"10.33588/rn.7901.2023356","url":null,"abstract":"<p><strong>Introduction: </strong>Morbidity remains high among patients who undergo successful mechanical thrombectomy (MT) for anterior circulation large vessel occlusion (LVO). Stress hyperglycemia worsens the prognosis after acute ischemic stroke (AIS), but aggressively treating hyperglycemia does not improve the outcome. There is no consensus on how to best manage glycemia after AIS. Glycemic variability (GV) reflects glycemic fluctuations over time and could be the culprit. We aimed to elucidate how GV impacts outcome of AIS patients treated with MT.</p><p><strong>Patients and methods: </strong>This was a single-center retrospective study. We consecutively included AIS patients who received MT for anterior circulation LVO. We recorded discrete blood glucose measurements within the first 24 hours post thrombectomy, from which we calculated two measures of GV: standard deviation (SD) and coefficient of variation. Univariate and multivariate analyses were conducted to identify predictors of poor functional outcome (modified Ranking scale score 3-6) and mortality at 3-month follow-up.</p><p><strong>Results: </strong>We included 657 patients. Patients with poor functional outcome (42.5%) and patients that died (14.8%) had significantly higher GV as measured by SD. In a multivariable model adjusted for confounders, higher SD was associated with mortality -adjusted odds ratio: 1.020 (95% CI 1.001-1.040)- but not with functional outcome -adjusted odds ratio for modified Ranking scale score 3-6: 1.007 (95% CI 0.990-1.025)-.</p><p><strong>Conclusions: </strong>Our results suggest that higher GV after MT for anterior circulation AIS is an independent risk factor for 3-month mortality. Future trials should evaluate the benefit of reducing GV in this setting.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11468031/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Inhaled levodopa: from evidence to experience]. [吸入式左旋多巴:从证据到经验]。
IF 0.8 4区 医学
Revista de neurologia Pub Date : 2024-06-30 DOI: 10.33588/rn.78S01.2024196
J C Martínez-Castrillo, I Pareés-Moreno, J L López Sendón-Moreno, P Pérez-Torre, S Fanjul, A Patiño-Patón, G García-Ribas, A Alonso-Cánovas
{"title":"[Inhaled levodopa: from evidence to experience].","authors":"J C Martínez-Castrillo, I Pareés-Moreno, J L López Sendón-Moreno, P Pérez-Torre, S Fanjul, A Patiño-Patón, G García-Ribas, A Alonso-Cánovas","doi":"10.33588/rn.78S01.2024196","DOIUrl":"10.33588/rn.78S01.2024196","url":null,"abstract":"<p><p>Most patients with Parkinson's disease experience motor fluctuations or 'off' periods, which impact on their daily activities, increase their disability and diminish their quality of life. They suffer from these fluctuations despite multiple adjustments to the schedules, doses and intake of medication. In this context, on-demand or rescue treatments are necessary to attempt to improve 'off' periods, with drugs that have the pharmacokinetic advantage of a much faster onset of action because their routes of administration are not oral. There are currently three on-demand therapies for the treatment of fluctuations: subcutaneous apomorphine, inhaled levodopa and sublingual apomorphine. Of the three alternatives, subcutaneous apomorphine generally has the fastest onset of action, sublingual apomorphine provides the longest clinical effect, and inhaled levodopa has the most favourable side effect profile. Each of these drugs has its own characteristics: the time before onset of action, the duration of action and different side effect profiles. The choice for each patient will depend on their individual needs and circumstances. To mark the first year of the introduction of inhaled levodopa, we review these therapies, focusing on the experience with this new dosage form of levodopa.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11513514/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141446963","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hemorrhagic adenoma mimicking anterior communicating artery aneurysm. 模仿前交通动脉瘤的出血性腺瘤。
IF 0.8 4区 医学
Revista de neurologia Pub Date : 2024-06-16 DOI: 10.33588/rn.7812.2024018
I Araújo-de Sousa, A de Oliveira-Veras, O Marques-Pontes-Neto, E Pereira Dos Santos-Neto
{"title":"Hemorrhagic adenoma mimicking anterior communicating artery aneurysm.","authors":"I Araújo-de Sousa, A de Oliveira-Veras, O Marques-Pontes-Neto, E Pereira Dos Santos-Neto","doi":"10.33588/rn.7812.2024018","DOIUrl":"10.33588/rn.7812.2024018","url":null,"abstract":"","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407464/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141311585","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Interindividual variability in patients with visuospatial neglect: a retrospective study]. [视觉空间忽略症患者的个体间差异:一项回顾性研究]。
IF 0.8 4区 医学
Revista de neurologia Pub Date : 2024-06-16 DOI: 10.33588/rn.7812.2024085
C Aparicio-López, A García-Rudolph, P Rodríguez-Rajo, R Sánchez-Carrión, A Enseñat-Cantallops, A García-Molina
{"title":"[Interindividual variability in patients with visuospatial neglect: a retrospective study].","authors":"C Aparicio-López, A García-Rudolph, P Rodríguez-Rajo, R Sánchez-Carrión, A Enseñat-Cantallops, A García-Molina","doi":"10.33588/rn.7812.2024085","DOIUrl":"10.33588/rn.7812.2024085","url":null,"abstract":"<p><strong>Introduction: </strong>Patients who have suffered a stroke may present with visuospatial neglect (VSN). In clinical practice, different degrees of impairment can be observed among patients with VSN; however, there is no consensus regarding the criteria and tests used to determine them.</p><p><strong>Aim: </strong>This study aims to classify patients with VSH based on their level of impairment and to study their response to computerized cognitive training.</p><p><strong>Patients and methods: </strong>The sample consisted of 34 patients (19 men and 15 women) with a mean age of 47.59 ± 8.39 years. All patients underwent a neuropsychological exploration protocol composed of specific tests that assess visuospatial attention and others to evaluate multiple cognitive domains. All participants underwent computerized cognitive training consisting of 15 one-hour sessions.</p><p><strong>Results: </strong>A cluster analysis was performed that divided the sample into three groups: group 1: mildly affected VSN (n = 17), group 2: moderately affected VSN (n = 11), and group 3: severely affected VSN (n = 6). Statistically significant differences were found in all tests of the visuospatial attention protocol, both in the pre-treatment and post-treatment evaluation.</p><p><strong>Conclusions: </strong>There are different levels of impairment among patients with VSN, differences that persist after applying computerized cognitive training. These results suggest that the evolution of VSN follows a homogeneous pattern linked to the initial level of impairment. These findings, although preliminary, may be relevant to neurorehabilitation professionals.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407465/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141311480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Neuropsychological profile of Mexican paediatric patients with pharmacoresistant focal epilepsy]. [墨西哥耐药性局灶性癫痫儿科患者的神经心理学概况]。
IF 0.8 4区 医学
Revista de neurologia Pub Date : 2024-06-16 DOI: 10.33588/rn.7812.2024096
A Antonio-Cruz, B Prieto-Corona, M G Yáñez-Téllez, A Amaya-Hernández, A García-Méndez, G Sánchez-Rodríguez, A G Ramírez-Reyes
{"title":"[Neuropsychological profile of Mexican paediatric patients with pharmacoresistant focal epilepsy].","authors":"A Antonio-Cruz, B Prieto-Corona, M G Yáñez-Téllez, A Amaya-Hernández, A García-Méndez, G Sánchez-Rodríguez, A G Ramírez-Reyes","doi":"10.33588/rn.7812.2024096","DOIUrl":"10.33588/rn.7812.2024096","url":null,"abstract":"<p><strong>Introduction: </strong>At least 20% of paediatric patients with epilepsy present resistance to multiple anti-crisis drugs in trials, which has a negative impact on their neuropsychological state, quality of life and prognosis; it is therefore necessary to document their neuropsychological profile in order to improve the clinical approach to them.</p><p><strong>Aims: </strong>To describe the neuropsychological profile (cognitive, academic, behavioural, emotional, adaptive, sleep disturbances and quality of life) of paediatric patients with drug-resistant focal epilepsy in the frontal, temporal and occipital lobes, and to compare performance between patients with frontal and temporal foci, and to assess the link between the duration of the condition, the frequency of seizures and the amount of anti-crisis drugs and the neuropsychological profile.</p><p><strong>Patients and methods: </strong>The neuropsychological profile of 19 paediatric patients with a diagnosis of pharmacoresistant epilepsy with a mean age of 10.89 years was evaluated.</p><p><strong>Results: </strong>57.9% of the 19 patients were men. 63.2% presented frontal focus; 26.3% presented temporal focus; and 10.5% presented occipital focus. Deficiencies in attention, comprehension, verbal memory, working memory and processing speed, in addition to adaptive difficulties were observed. When the patients with frontal and temporal focus were compared, the former were found to present greater deficits in planning, while the patients with temporal focus presented more severe symptoms of anxiety. Patients with a longer disease duration were found to present greater impairment to their intelligence quotient and adaptive behavioural skills.</p><p><strong>Conclusions: </strong>Pharmacoresistant epilepsy in paediatric patients affects intelligence quotient and adaptive skills, as well as attention, memory and executive functions, and neuropsychological intervention programmes must therefore be implemented to improve these patients' quality of life.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407462/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141311481","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Unilateral thalamotomy with high intensity focal ultrasound in patients with refractory essential tremor: a comparative study between patients under and over 70 years of age]. [难治性本质性震颤患者的单侧丘脑切开术与高强度聚焦超声:70 岁以下与 70 岁以上患者的比较研究]。
IF 0.8 4区 医学
Revista de neurologia Pub Date : 2024-06-16 DOI: 10.33588/rn.7812.2024104
J García-de Soto, J M Pouso-Diz, G Fernández-Pajarín, P Román-Pena, E Arán-Echabe, A J Mosqueira, M Blanco-Ulla, B Ares, A Sesar
{"title":"[Unilateral thalamotomy with high intensity focal ultrasound in patients with refractory essential tremor: a comparative study between patients under and over 70 years of age].","authors":"J García-de Soto, J M Pouso-Diz, G Fernández-Pajarín, P Román-Pena, E Arán-Echabe, A J Mosqueira, M Blanco-Ulla, B Ares, A Sesar","doi":"10.33588/rn.7812.2024104","DOIUrl":"10.33588/rn.7812.2024104","url":null,"abstract":"<p><strong>Introduction: </strong>High intensity focal ultrasound (HIFU) thalamotomy is a novel treatment for refractory tremor. This study aims to compare the reduction in tremor intensity and adverse effects of treatment between patients younger and older than 70 years of age.</p><p><strong>Patients and methods: </strong>All the patients with refractory essential tremor treated with HIFU between March 2021 and March 2023 were included consecutively. Various demographic and clinical variables were analysed, including age and the items on the Clinical Rating Scale for Tremor (CRST). Cerebral vascular pathology was quantified using the Fazekas scale. Outcomes and adverse effects were compared between the patients aged 70 years or younger, and those older than 70 years.</p><p><strong>Results: </strong>Ninety patients were included, and 50 of them were over 70 years old. Prior to treatment, the CRST A + B score was 20.4 ± 5.7 among those under 70 years of age, and 23.3 ± 5.1 in those older (p = 0.013). At six months after treatment, the mean was 3.8 ± 5.1 and 4.8 ± 4.5, respectively (p = 0.314). We found no significant differences in the CRST C score (2.8 ± 4.1 and 3.5 ± 4.8, p = 0.442). There were also no significant differences between the patients with vascular pathology (Fazekas = 1) and those without (4.6 ± 7.3 and 4.3 ± 4, p = 0.832). There were no differences in the presence of adverse effects between the groups based on age and vascular pathology.</p><p><strong>Conclusions: </strong>Contrary to traditional opinion, older patients do not have a poorer response or a higher rate of adverse effects after HIFU treatment.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407463/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141311482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Paresis of an upper extremity. Action observation and motor imagery in recovery of patients with chronic stroke]. [上肢麻痹。动作观察和运动想象在慢性中风患者康复中的应用]。
IF 0.8 4区 医学
Revista de neurologia Pub Date : 2024-06-01 DOI: 10.33588/rn.7811.2024017
G Valadez-Roque, J Cantillo-Negrete, R I Carino-Escobar, A Torres-Chávez
{"title":"[Paresis of an upper extremity. Action observation and motor imagery in recovery of patients with chronic stroke].","authors":"G Valadez-Roque, J Cantillo-Negrete, R I Carino-Escobar, A Torres-Chávez","doi":"10.33588/rn.7811.2024017","DOIUrl":"10.33588/rn.7811.2024017","url":null,"abstract":"<p><strong>Introduction: </strong>Action observation (AO) and motor imagery (MI) are considered functionally equivalent forms of motor representation related to movement execution (ME). Because of their characteristics, AO and MI have been proposed as techniques to facilitate the recovery of post-stroke hemiparesis in the upper extremities.</p><p><strong>Patients and methods: </strong>An experimental, longitudinal, prospective, single-blinded design was undertaken. Eleven patients participated, and were randomly assigned to each study group. Both groups received 10 to 12 sessions of physical therapy. Five patients were assigned to the control treatment group, and six patients to the experimental treatment group (AO + MI). All were assessed before and after treatment for function, strength (newtons) and mobility (percentage) in the affected limb, as well as alpha desynchronisation (8-13 Hz) in the supplementary motor area, the premotor cortex and primary motor cortex while performing AO + MI tasks and action observation plus motor execution (AO + ME).</p><p><strong>Results: </strong>The experimental group presented improvement in function and strength. A negative correlation was found between desynchronisation in the supplementary motor area and function, as well as a post-treatment increase in desynchronisation in the premotor cortex of the injured hemisphere in the experimental group only.</p><p><strong>Conclusions: </strong>An AO + MI-based intervention positively impacts recovery of the paretic upper extremity by stimulating the supplementary motor area, a cortex involved in movement preparation and learning. AO + MI therapy can be used as adjunctive treatment in patients with upper extremity paresis following chronic stroke.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407457/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141176256","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Memory and language risk assessment with Wada test in patients candidates for epilepsy surgery. 用和田测试评估癫痫手术候选患者的记忆和语言风险。
IF 0.8 4区 医学
Revista de neurologia Pub Date : 2024-06-01 DOI: 10.33588/rn.7811.2024029
E Jaramillo-Jiménez, J D Hoyos-Rubio, M E Jiménez-Jaramillo, M Torres-Bustamante, J F Zapata-Berruecos, J S Carvajal-Castrillón, J Yepes-Paz, J R Rincones-Pérez, A Arboleda-Ramírez
{"title":"Memory and language risk assessment with Wada test in patients candidates for epilepsy surgery.","authors":"E Jaramillo-Jiménez, J D Hoyos-Rubio, M E Jiménez-Jaramillo, M Torres-Bustamante, J F Zapata-Berruecos, J S Carvajal-Castrillón, J Yepes-Paz, J R Rincones-Pérez, A Arboleda-Ramírez","doi":"10.33588/rn.7811.2024029","DOIUrl":"10.33588/rn.7811.2024029","url":null,"abstract":"<p><strong>Aim: </strong>To determine post-surgical cognitive risk and associated factors according to lesion location in a sample of patients evaluated for epilepsy surgery with Wada test at the Fundacion Instituto Neurologico de Colombia.</p><p><strong>Materials and methods: </strong>An observational, retrospective, analytical study was completed in patients with drug-resistant temporal lobe epilepsy candidates for epilepsy surgery treated from 2001 to 2021, who completed the Wada test as part of the pre-surgical evaluation. A descriptive analysis of sociodemographic, clinical, imaging and neuropsychological variables was completed; a multivariate logistic regression was performed analyzing factors associated with resection risk in patients with left lesions. RESULTS A total of 369 patients were included, 54.74% of the cases were women, with a median age of seizure onset of 11 years. 92.66% of the cases had lesional epilepsy and 68.56% were secondary to hippocampal sclerosis. Left hemisphere was the most frequently affected (65.68%) being dominant for memory and language in most of the patients with a proportion of 42.82% and 81.3%, respectively. The median functional adequacy was 43.75 (IQR 0-75) and the functional reserve was 75 (IQR 25 -93.75). In 104 patients, the Wada test determined a resection risk. In patients with a left lesion, it was found that functional reserve (PRadjusted 0.99, CI 95% 0.9997-0.9998) and having a right hemispheric dominance for memory (PRadjusted 0.92, CI 95% 0.547-0.999) were protective factors for post-surgical resection risk.</p><p><strong>Conclusion: </strong>Wada test is a useful tool for surgical decision-making in patients with drug-resistant temporal lobe epilepsy. When considering cognitive risk, components such as memory dominance and functional reserve should be considered as protective factors for postsurgical cognitive function preservation in patients with left lesions.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407459/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141176199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[X-linked intellectual disability syndrome with macrocephaly due to BRWD3 gene deletion]. [BRWD3基因缺失导致的伴有巨脑畸形的X连锁智力残疾综合征]。
IF 0.8 4区 医学
Revista de neurologia Pub Date : 2024-06-01 DOI: 10.33588/rn.7811.2024057
I Arroyo-Carrera, R Romero-Peguero, R Martín-Fernández, A Ramajo-Polo, V García-Navas Núñez
{"title":"[X-linked intellectual disability syndrome with macrocephaly due to BRWD3 gene deletion].","authors":"I Arroyo-Carrera, R Romero-Peguero, R Martín-Fernández, A Ramajo-Polo, V García-Navas Núñez","doi":"10.33588/rn.7811.2024057","DOIUrl":"10.33588/rn.7811.2024057","url":null,"abstract":"<p><strong>Introduction: </strong>Pathogenic variants in BRWD3 gene have been described as a rare cause of syndromic X-linked intellectual disability. Its phenotype shows neurodevelopmental delay with intellectual disability in all reported patients, facial dysmorphic features, macrocephaly, overgrowth and obesity. The great majority of cases yield point variants in the gene, only three large deletions including only the BRWD3 gene have been reported. The BRWD3 protein is an epigenetic reader that regulates chromatin remodeling. We report a boy with a compatible phenotype and a deletion including only this gene.</p><p><strong>Case report: </strong>Boy, without family and perinatal pathological background, with neurodevelopmental delay: psychomotor delay, speech delay and intellectual disability, macrocephaly (p > 99) and obesity. Phenotype with facial dysmorphic features: wide forehead, deep set eyes, bulbous nose, prominent ears and pointed chin. The array-CGH analysis showed a 586 kb deletion at Xq21.1 including only one gene with associated disorder, BRWD3. Afterwards, the deletion was also identified in his asymptomatic mother and sister.</p><p><strong>Conclusions: </strong>Our patient confirms that the haploinsufficiency due to BRWD3 deletion is a causal genetic mechanism of the BRWD3-related syndromic X-linked intellectual disability. It is important to recognize the phenotype for the diagnosis and follow up of the patients, and also to carry out the family genetic analysis in order to identify and give genetic counselling to the women who also have the genetic defect, because the majority of them are asymptomatic, as the mother and sister of our patient.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407458/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141176198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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