Pub Date : 2025-06-01Epub Date: 2025-04-22DOI: 10.1016/j.nrl.2023.03.002
J. Alonso-Pérez , O. Barrachina-Esteve , L. González-Quereda , M.L. Viguera-Martinez , M. Luján-Torné , M. Guitart-Feliubadaló , J. Miguel Martínez , Á. Carbayo , P. Gallano , J. Díaz-Manera , M. Olivé , R. Rojas-Garcia
Background
Desminopathies are a clinically heterogeneous group of myopathies, with common histological findings in muscle biopsy. Clinically, they usually present with distal and/or proximal muscle weakness often associated with cardiomyopathy. We present 8 patients from 3 unrelated families manifesting isolated respiratory insufficiency without skeletal muscle weakness or heart disease, because of a mutation in the DES gene.
Methods
Clinical and demographic data were acquired from medical records. Muscle MRI studies were performed in 6 patients. A muscle biopsy study was performed in the index case from each family.
Results
Isolated restrictive respiratory dysfunction was observed in all symptomatic patients, with 2 requiring non-invasive ventilation. Three patients were asymptomatic at the time of the study. None of the patients presented skeletal muscle weakness or heart disease, even after 20 years of disease progression. Muscle MRI showed a common pattern with predominant involvement of the semitendinosus muscle. Muscle biopsy showed patches of cytoplasmic inclusions corresponding to desmin aggregates. The genetic study showed heterozygous presence of the p.Arg415Trp mutation in the DES gene in all patients.
Conclusions
We present 5 patients carrying a p.Arg415Trp mutation in the DES gene, manifesting as isolated restrictive respiratory insufficiency without associated skeletal muscle weakness or heart disease. These cases represent a new phenotype associated with DES mutations, thus suggesting that desminopathy should be considered in the diagnostic workup of patients presenting isolated respiratory failure.
{"title":"Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum","authors":"J. Alonso-Pérez , O. Barrachina-Esteve , L. González-Quereda , M.L. Viguera-Martinez , M. Luján-Torné , M. Guitart-Feliubadaló , J. Miguel Martínez , Á. Carbayo , P. Gallano , J. Díaz-Manera , M. Olivé , R. Rojas-Garcia","doi":"10.1016/j.nrl.2023.03.002","DOIUrl":"10.1016/j.nrl.2023.03.002","url":null,"abstract":"<div><h3>Background</h3><div>Desminopathies are a clinically heterogeneous group of myopathies, with common histological findings in muscle biopsy. Clinically, they usually present with distal and/or proximal muscle weakness often associated with cardiomyopathy. We present 8 patients from 3 unrelated families manifesting isolated respiratory insufficiency without skeletal muscle weakness or heart disease, because of a mutation in the <em>DES</em> gene.</div></div><div><h3>Methods</h3><div>Clinical and demographic data were acquired from medical records. Muscle MRI studies were performed in 6 patients. A muscle biopsy study was performed in the index case from each family.</div></div><div><h3>Results</h3><div>Isolated restrictive respiratory dysfunction was observed in all symptomatic patients, with 2 requiring non-invasive ventilation. Three patients were asymptomatic at the time of the study. None of the patients presented skeletal muscle weakness or heart disease, even after 20 years of disease progression. Muscle MRI showed a common pattern with predominant involvement of the semitendinosus muscle. Muscle biopsy showed patches of cytoplasmic inclusions corresponding to desmin aggregates. The genetic study showed heterozygous presence of the p.Arg415Trp mutation in the <em>DES</em> gene in all patients.</div></div><div><h3>Conclusions</h3><div>We present 5 patients carrying a p.Arg415Trp mutation in the <em>DES</em> gene, manifesting as isolated restrictive respiratory insufficiency without associated skeletal muscle weakness or heart disease. These cases represent a new phenotype associated with <em>DES</em> mutations, thus suggesting that desminopathy should be considered in the diagnostic workup of patients presenting isolated respiratory failure.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 5","pages":"Pages 433-441"},"PeriodicalIF":2.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144239644","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}
Pub Date : 2025-06-01Epub Date: 2024-09-05DOI: 10.1016/j.nrl.2023.05.005
M. Rodríguez-Rodríguez , Y. Rodríguez-Agudelo , F.J. Soto-Moreno , A. García-Santos , D. López-González , M. González-Navarro , F. Paz-Rodríguez , M. Chávez-Oliveros , S. Lozano-Tovar , K. González-Alonso , A. Castorena-Maldonado , R. Carrillo-Mezo , O. Marrufo-Meléndez , A. Gutiérrez-Romero , M. del Río Quiñones , A. Arauz-Góngora , S. Avila-Rios
Background
Cognitive impairments are one of the most common, insidious, and disabling symptoms of post-COVID-19 syndrome (PC-19), which have been correlated with damage to different brain structures.
Objective
To describe cognitive impairments in PC-19, identify associated variables, and compare the impact of mechanical ventilation on cognitive and neuroimaging outcomes.
Methods
A cohort of COVID-19 survivors was evaluated with neuropsychological tests (NPT) and cranial magnetic resonance imaging (MRI) 12 weeks after hospital discharge. Patients were classified into two groups based on whether they required invasive mechanical ventilation (IMV) or non-invasive mechanical ventilation (NIMV).
Results
Sixty patients completed the study, 41 received IMV and 19 NIMV, with an average age of 57.11 years. 66% scored below 26 points on the MoCA test and 83.3% reported everyday memory failures (EMF). 85% showed impairments in at least one NPT. When comparing results between groups, significant differences were observed in the total MoCA test score (p = 0,045) and EMF (p = 0,032). Significant relationships were observed between the Boston Naming Test (−.287; P = .035), the Rey Figure Recall Test (−.324; P = .017) with parietal atrophy, as well as phonological verbal fluency with frontal atrophy (−.276; P = .042). The HVLT (learning trial) test was related to hippocampal hyperintensity (−.266; P = .050) and cingulate hyperintensity (.311; P = .021). The TMT-B test was related to white matter hyperintensity (.345; P = .010). The presence of poor functional prognosis was correlated with anxiety (P < .001), depression (P < .001), elevated D-dimer levels (P = .002) and the increase in days of intubation (P = .005).
Conclusion
Our study suggests that COVID-19 survivors who had moderate-to-severe infection experience subjective complaints and cognitive impairments in executive function, attention, and memory, regardless of whether invasive mechanical ventilation was used during treatment. We found white matter lesions and cerebral atrophy in frontal and parietal regions that were associated with cognitive deficits. Our findings highlight the clinical need for longitudinal programs capable of evaluating the real impact of SARS-CoV-2 infection on the central nervous system, particularly in the cognitive and emotional domains.
{"title":"Variables asociadas a alteraciones cognitivas en una cohorte de personas sobrevivientes por COVID-19 en hospital de tercer nivel de México","authors":"M. Rodríguez-Rodríguez , Y. Rodríguez-Agudelo , F.J. Soto-Moreno , A. García-Santos , D. López-González , M. González-Navarro , F. Paz-Rodríguez , M. Chávez-Oliveros , S. Lozano-Tovar , K. González-Alonso , A. Castorena-Maldonado , R. Carrillo-Mezo , O. Marrufo-Meléndez , A. Gutiérrez-Romero , M. del Río Quiñones , A. Arauz-Góngora , S. Avila-Rios","doi":"10.1016/j.nrl.2023.05.005","DOIUrl":"10.1016/j.nrl.2023.05.005","url":null,"abstract":"<div><h3>Background</h3><div>Cognitive impairments are one of the most common, insidious, and disabling symptoms of post-COVID-19 syndrome (PC-19), which have been correlated with damage to different brain structures.</div></div><div><h3>Objective</h3><div>To describe cognitive impairments in PC-19, identify associated variables, and compare the impact of mechanical ventilation on cognitive and neuroimaging outcomes.</div></div><div><h3>Methods</h3><div>A cohort of COVID-19 survivors was evaluated with neuropsychological tests (NPT) and cranial magnetic resonance imaging (MRI) 12 weeks after hospital discharge. Patients were classified into two groups based on whether they required invasive mechanical ventilation (IMV) or non-invasive mechanical ventilation (NIMV).</div></div><div><h3>Results</h3><div>Sixty patients completed the study, 41 received IMV and 19 NIMV, with an average age of 57.11 years. 66% scored below 26 points on the MoCA test and 83.3% reported everyday memory failures (EMF). 85% showed impairments in at least one NPT. When comparing results between groups, significant differences were observed in the total MoCA test score (p<!--> <!-->=<!--> <!-->0,045) and EMF (p<!--> <!-->=<!--> <!-->0,032). Significant relationships were observed between the Boston Naming Test (−.287; <em>P</em> <!-->=<!--> <!-->.035), the Rey Figure Recall Test (−.324; <em>P</em> <!-->=<!--> <!-->.017) with parietal atrophy, as well as phonological verbal fluency with frontal atrophy (−.276; <em>P</em> <!-->=<!--> <!-->.042). The HVLT (learning trial) test was related to hippocampal hyperintensity (−.266; <em>P</em> <!-->=<!--> <!-->.050) and cingulate hyperintensity (.311; <em>P</em> <!-->=<!--> <!-->.021). The TMT-B test was related to white matter hyperintensity (.345; <em>P</em> <!-->=<!--> <!-->.010). The presence of poor functional prognosis was correlated with anxiety (<em>P</em> <!--><<!--> <!-->.001), depression (<em>P</em> <!--><<!--> <!-->.001), elevated D-dimer levels (<em>P</em> <!-->=<!--> <!-->.002) and the increase in days of intubation (<em>P</em> <!-->=<!--> <!-->.005).</div></div><div><h3>Conclusion</h3><div>Our study suggests that COVID-19 survivors who had moderate-to-severe infection experience subjective complaints and cognitive impairments in executive function, attention, and memory, regardless of whether invasive mechanical ventilation was used during treatment. We found white matter lesions and cerebral atrophy in frontal and parietal regions that were associated with cognitive deficits. Our findings highlight the clinical need for longitudinal programs capable of evaluating the real impact of SARS-CoV-2 infection on the central nervous system, particularly in the cognitive and emotional domains.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 5","pages":"Pages 409-421"},"PeriodicalIF":2.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144239643","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}
Pub Date : 2025-06-01Epub Date: 2024-09-06DOI: 10.1016/j.nrl.2023.01.003
F. Acebrón , R. Valverde
Introduction
Stroke is the leading cause of acquired disability in adults and the second leading cause of death. The SEGUICTUS project was carried out with the aim of knowing its clinical management in different hospitals in Spain, in order to promote corrective measures to reduce its incidence and derived consequences.
Methods
This cross-sectional multicenter research was carried out through a survey of 40 questions on opinion, attitude and behavior. The survey was answered by 205 neurology specialists from different regions of Spain.
Results
The availability of resources for stroke management was statistically lower in tertiary and regional hospitals. 36.6% of the participants assessed the presence of cognitive impairment in more than half of the patients, and 37.6% used specific questionnaires to assess cognitive impairment in less than 10% of the patients. The best considered therapeutic options for its treatment were acetylcholinesterase inhibitors and citylcholine. Statistically significant differences were observed in the percentage of participants who began rehabilitation treatment during admission, being lower in tertiary hospitals.
Conclusions
The shortage of stroke units, protocols and specialized consultations for the care of stroke patients may have an impact on the treatment of potential sequelae of stroke, such as cognitive impairment and motor sequelae. It is necessary to evaluate the deficit points in stroke management and implement the appropriate corrective measures.
{"title":"Estudio SEGUICTUS: manejo y seguimiento del paciente con ictus en España","authors":"F. Acebrón , R. Valverde","doi":"10.1016/j.nrl.2023.01.003","DOIUrl":"10.1016/j.nrl.2023.01.003","url":null,"abstract":"<div><h3>Introduction</h3><div>Stroke is the leading cause of acquired disability in adults and the second leading cause of death. The SEGUICTUS project was carried out with the aim of knowing its clinical management in different hospitals in Spain, in order to promote corrective measures to reduce its incidence and derived consequences.</div></div><div><h3>Methods</h3><div>This cross-sectional multicenter research was carried out through a survey of 40 questions on opinion, attitude and behavior. The survey was answered by 205 neurology specialists from different regions of Spain.</div></div><div><h3>Results</h3><div>The availability of resources for stroke management was statistically lower in tertiary and regional hospitals. 36.6% of the participants assessed the presence of cognitive impairment in more than half of the patients, and 37.6% used specific questionnaires to assess cognitive impairment in less than 10% of the patients. The best considered therapeutic options for its treatment were acetylcholinesterase inhibitors and citylcholine. Statistically significant differences were observed in the percentage of participants who began rehabilitation treatment during admission, being lower in tertiary hospitals.</div></div><div><h3>Conclusions</h3><div>The shortage of stroke units, protocols and specialized consultations for the care of stroke patients may have an impact on the treatment of potential sequelae of stroke, such as cognitive impairment and motor sequelae. It is necessary to evaluate the deficit points in stroke management and implement the appropriate corrective measures.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 5","pages":"Pages 456-467"},"PeriodicalIF":2.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144239715","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}
Pub Date : 2025-06-01Epub Date: 2025-02-15DOI: 10.1016/j.nrl.2024.01.003
R. Ghosh , M. León-Ruiz , A.S. Mondal , S. Dubey , J. Benito-León
{"title":"Cockayne syndrome B with axonal sensorimotor polyneuropathy caused by a de novo mutation of the gene ERCC6: A novel phenotypic and genotypic variant","authors":"R. Ghosh , M. León-Ruiz , A.S. Mondal , S. Dubey , J. Benito-León","doi":"10.1016/j.nrl.2024.01.003","DOIUrl":"10.1016/j.nrl.2024.01.003","url":null,"abstract":"","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 5","pages":"Pages 484-487"},"PeriodicalIF":2.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144239718","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}
Pub Date : 2025-06-01Epub Date: 2024-07-15DOI: 10.1016/j.nrl.2022.11.009
M. Rodrigo-Gisbert , E. Caronna , A. Alpuente , M. Torres-Ferrús , P. Pozo-Rosich
Introduction
Posterior reversible encephalopathy syndrome (PRES) is a neurological disorder consisting in cerebrovascular dysregulation with acute neurological symptoms, including headache. However, there is a paucity of data that point to headache as a sequela of PRES. We aimed to explore its prevalence, characteristics, and impact.
Methods
We retrospectively included all consecutive patients with PRES attended at our institution from April 2018 to January 2022. We collected demographic and clinico-radiological data from the acute phase. During a mean follow-up time of 16 (14) months, we assessed the presence of headache after PRES and evaluated its impact using validated questionnaires.
Results
Of the 27 cases detected, after excluding 16 patients (11 deceased and 5 lost to follow-up), we evaluated 11 patients with a mean age of 38 (14) years; 63.6% were female. After PRES resolution, 9/11 (81.8%) patients presented headache, with migraine-like features in 8/9 (88.9%). Seven patients completed validated questionnaires; on the Migraine Disability Assessment scale, 71.4% (5/7) had moderate–severe disability. The Short Form-36 Health Survey dimensions of general health, physical role, and vitality reflected a deterioration in the quality of life.
Conclusions
Our data suggest that headache is a potential sequela of PRES that could imply subsequent disability. Migraine-like features point to the existence of shared pathophysiological mechanisms with migraine, which may mainly involve vascular and endothelial functions; however, more studies are needed.
{"title":"Headache: A potential sequela of posterior reversible encephalopathy syndrome","authors":"M. Rodrigo-Gisbert , E. Caronna , A. Alpuente , M. Torres-Ferrús , P. Pozo-Rosich","doi":"10.1016/j.nrl.2022.11.009","DOIUrl":"10.1016/j.nrl.2022.11.009","url":null,"abstract":"<div><h3>Introduction</h3><div>Posterior reversible encephalopathy syndrome (PRES) is a neurological disorder consisting in cerebrovascular dysregulation with acute neurological symptoms, including headache. However, there is a paucity of data that point to headache as a sequela of PRES. We aimed to explore its prevalence, characteristics, and impact.</div></div><div><h3>Methods</h3><div>We retrospectively included all consecutive patients with PRES attended at our institution from April 2018 to January 2022. We collected demographic and clinico-radiological data from the acute phase. During a mean follow-up time of 16 (14) months, we assessed the presence of headache after PRES and evaluated its impact using validated questionnaires.</div></div><div><h3>Results</h3><div>Of the 27 cases detected, after excluding 16 patients (11 deceased and 5 lost to follow-up), we evaluated 11 patients with a mean age of 38 (14) years; 63.6% were female. After PRES resolution, 9/11 (81.8%) patients presented headache, with migraine-like features in 8/9 (88.9%). Seven patients completed validated questionnaires; on the Migraine Disability Assessment scale, 71.4% (5/7) had moderate–severe disability. The Short Form-36 Health Survey dimensions of general health, physical role, and vitality reflected a deterioration in the quality of life.</div></div><div><h3>Conclusions</h3><div>Our data suggest that headache is a potential sequela of PRES that could imply subsequent disability. Migraine-like features point to the existence of shared pathophysiological mechanisms with migraine, which may mainly involve vascular and endothelial functions; however, more studies are needed.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 5","pages":"Pages 442-446"},"PeriodicalIF":2.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141692497","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}
Pub Date : 2025-05-01Epub Date: 2024-08-23DOI: 10.1016/j.nrl.2023.11.006
M. Ochando Díez-Canseco, M. Reguero Capilla, I. Domínguez-Romero, E. Menéndez-Rivero, M. Prados-Castaño
{"title":"Síndrome de DRESS y reactivación cruzada por otros antiepilépticos: cómo resolver el problema","authors":"M. Ochando Díez-Canseco, M. Reguero Capilla, I. Domínguez-Romero, E. Menéndez-Rivero, M. Prados-Castaño","doi":"10.1016/j.nrl.2023.11.006","DOIUrl":"10.1016/j.nrl.2023.11.006","url":null,"abstract":"","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 4","pages":"Pages 406-408"},"PeriodicalIF":2.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143870857","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}
Pub Date : 2025-05-01Epub Date: 2024-05-28DOI: 10.1016/j.nrl.2023.08.002
M. Luisa Antelo , S. Zalba Marcos , I. Jericó , M. Sarobe , L. Torné , M. Elena Erro , J.A. García-Erce
Introduction
Therapeutic plasma exchange (TPE) and/or the administration of endovenous immunoglobulins (IGEV) are considered the first line treatment for multiple autoimmune-based neurological diseases. According to the scientific evidence collected in several recent guidelines, the efficacy of both treatments is very similar for many of them, however, the current situation of non-self-sufficiency and the real risk of IGEV shortages make it essential to assess TPE as the first therapeutic option.
The objective of this work is to estimate the basic direct costs derived from treatment with RPT compared to treatment with IGEV in immune-mediated neurological diseases in a situation of supposed therapeutic equivalence.
Material and methods
Patients who are treated with IGEV receive a standard dose of 0.4 g/Kg weight for 5 consecutive days. Patients treated with RPT with the Terumo-BCT® Optia model cell separator undergo between 5 and 7 sessions, every other day, with a substitution equivalent to 1-1.5 volumes, using 4-5% albumin as replacement fluid.
The calculation of the economic cost, for both types of treatments, in simulation of therapeutic equivalence and safety, has been carried out considering pharmaceutical expenses, calculation of the cost for each dose of IGEV, the detailed costs of consumables, replacement fluids and anticoagulant for RPT, in the worst-case scenario, with central venous catheter (CVC) placement. The price of albumin and immunoglobulins has been adjusted based on the situation of self-sufficiency or dependency and the average value of the last 4 years has been referenced for the calculations. The costs of personnel, hospitalization, or complications derived from the treatments have not been considered. The prices are indicated in euros including VAT of 4% or 21% as appropriate.
Results
For a patient with a mean weight of 70 kg, the estimated final cost per TPR session, with CVC placement, was €612.66; while the cost for each dose of IGEV. (0.4 g/kg) was €1191. The difference is favorable to the RPT: €2,279 [€1,666.4 - €2,891.7]. The economic difference presented is probably greater in real clinical practice, since many of the patients do not require CVC placement to perform the TPR, and sessions were performed on an outpatient basis.
Conclusions
The use of TPE in the first line in pathologies in which the clinical results do not present significant differences with the IGEV, optimizes the use of blood products and can lead to economic savings. It is necessary to expand this study by including an analysis of the efficacy in our series, as well as the adverse events associated with each type of treatment together with other expenses derived from personnel and hospital admission costs versus the use of outpatient resources (pheresis room).
{"title":"Análisis de costes del tratamiento con recambio plasmático terapéutico frente al tratamiento con inmunoglobulinas endovenosas en pacientes con enfermedades neurológicas de base inmune. Propuesta de optimización del uso de hemoderivados plasmáticos","authors":"M. Luisa Antelo , S. Zalba Marcos , I. Jericó , M. Sarobe , L. Torné , M. Elena Erro , J.A. García-Erce","doi":"10.1016/j.nrl.2023.08.002","DOIUrl":"10.1016/j.nrl.2023.08.002","url":null,"abstract":"<div><h3>Introduction</h3><div>Therapeutic plasma exchange (TPE) and/or the administration of endovenous immunoglobulins (IGEV) are considered the first line treatment for multiple autoimmune-based neurological diseases. According to the scientific evidence collected in several recent guidelines, the efficacy of both treatments is very similar for many of them, however, the current situation of non-self-sufficiency and the real risk of IGEV shortages make it essential to assess TPE as the first therapeutic option.</div><div>The objective of this work is to estimate the basic direct costs derived from treatment with RPT compared to treatment with IGEV in immune-mediated neurological diseases in a situation of supposed therapeutic equivalence.</div></div><div><h3>Material and methods</h3><div>Patients who are treated with IGEV receive a standard dose of 0.4<!--> <!-->g/Kg weight for 5 consecutive days. Patients treated with RPT with the Terumo-BCT® Optia model cell separator undergo between 5 and 7 sessions, every other day, with a substitution equivalent to 1-1.5 volumes, using 4-5% albumin as replacement fluid.</div><div>The calculation of the economic cost, for both types of treatments, in simulation of therapeutic equivalence and safety, has been carried out considering pharmaceutical expenses, calculation of the cost for each dose of IGEV, the detailed costs of consumables, replacement fluids and anticoagulant for RPT, in the worst-case scenario, with central venous catheter (CVC) placement. The price of albumin and immunoglobulins has been adjusted based on the situation of self-sufficiency or dependency and the average value of the last 4 years has been referenced for the calculations. The costs of personnel, hospitalization, or complications derived from the treatments have not been considered. The prices are indicated in euros including VAT of 4% or 21% as appropriate.</div></div><div><h3>Results</h3><div>For a patient with a mean weight of 70<!--> <!-->kg, the estimated final cost per TPR session, with CVC placement, was €612.66; while the cost for each dose of IGEV. (0.4 g/kg) was €1191. The difference is favorable to the RPT: €2,279 [€1,666.4 - €2,891.7]. The economic difference presented is probably greater in real clinical practice, since many of the patients do not require CVC placement to perform the TPR, and sessions were performed on an outpatient basis.</div></div><div><h3>Conclusions</h3><div>The use of TPE in the first line in pathologies in which the clinical results do not present significant differences with the IGEV, optimizes the use of blood products and can lead to economic savings. It is necessary to expand this study by including an analysis of the efficacy in our series, as well as the adverse events associated with each type of treatment together with other expenses derived from personnel and hospital admission costs versus the use of outpatient resources (pheresis room).</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 4","pages":"Pages 344-352"},"PeriodicalIF":2.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143870257","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}
Pub Date : 2025-05-01Epub Date: 2024-06-12DOI: 10.1016/j.nrl.2022.12.005
A. Juárez-Belaúnde , C. Colomer , R. Dorado , S. Laxe , X. Miguens , J. Ferri , R. Rodríguez , T. Pérez , C. López , M. Ríos , C. González , R. Pelayo , M. Bernabeu , E. Noé , A. Gómez , I. Quemada
Introduction
We present the guidelines for pain management in neurorehabilitation of brain injury in adults of the Spanish Society of Neurorehabilitation based on the review and analysis of the available literature on the subject. We establish recommendations according to the level of evidence offered by the reviewed studies.
Development
The methodology followed by the Spanish Society of Neurorehabilitation for the elaboration of the present guide is based on the analysis of the national and international clinical practice guidelines of the last seven years, carried out according to the management considerations dictated by the evidence for the usual types of pain in the population of people who have suffered an acquired brain injury.
Conclusions
Pain is a common symptom in patients who have suffered brain damage, having a negative impact on quality of life and adherence to the rehabilitation process. When classifying the type of pain according to etiological characteristics, in order to optimize the type of therapeutic approach, we usually refer to pain as nociceptive, and neuropathic pain, although pain in such patients often has “mixed” characteristics. The most common type of pain is nociceptive ahead of neuropathic. The most common pain syndromes in this population are headache, hemiplegic shoulder pain and poststroke central pain. As pain is a subjective experience, people with impaired level of consciousness, severe cognitive impairment and/or severe language problems may have greater difficulty or even being unable to communicate it. An adequate clinical history and a directed physical examination, as well as the use of specific scales for its correct diagnosis are therefore important. Finally, many of the drugs used for its management have a negative impact on rehabilitation, affecting cognitive processes, and/or worsening other neurological symptoms. Furthermore, these patients often have several comorbidities and are frequently on several drugs which means that the approach to pain management must be carefully elaborated by a multidisciplinary team approach.
{"title":"Guía: Principios Básicos del Manejo del Dolor en el Daño Cerebral Sobrevenido. Recomendaciones de la Sociedad Española de Neurorrehabilitación","authors":"A. Juárez-Belaúnde , C. Colomer , R. Dorado , S. Laxe , X. Miguens , J. Ferri , R. Rodríguez , T. Pérez , C. López , M. Ríos , C. González , R. Pelayo , M. Bernabeu , E. Noé , A. Gómez , I. Quemada","doi":"10.1016/j.nrl.2022.12.005","DOIUrl":"10.1016/j.nrl.2022.12.005","url":null,"abstract":"<div><h3>Introduction</h3><div>We present the guidelines for pain management in neurorehabilitation of brain injury in adults of the Spanish Society of Neurorehabilitation based on the review and analysis of the available literature on the subject. We establish recommendations according to the level of evidence offered by the reviewed studies.</div></div><div><h3>Development</h3><div>The methodology followed by the Spanish Society of Neurorehabilitation for the elaboration of the present guide is based on the analysis of the national and international clinical practice guidelines of the last seven years, carried out according to the management considerations dictated by the evidence for the usual types of pain in the population of people who have suffered an acquired brain injury.</div></div><div><h3>Conclusions</h3><div>Pain is a common symptom in patients who have suffered brain damage, having a negative impact on quality of life and adherence to the rehabilitation process. When classifying the type of pain according to etiological characteristics, in order to optimize the type of therapeutic approach, we usually refer to pain as nociceptive, and neuropathic pain, although pain in such patients often has “mixed” characteristics. The most common type of pain is nociceptive ahead of neuropathic. The most common pain syndromes in this population are headache, hemiplegic shoulder pain and poststroke central pain. As pain is a subjective experience, people with impaired level of consciousness, severe cognitive impairment and/or severe language problems may have greater difficulty or even being unable to communicate it. An adequate clinical history and a directed physical examination, as well as the use of specific scales for its correct diagnosis are therefore important. Finally, many of the drugs used for its management have a negative impact on rehabilitation, affecting cognitive processes, and/or worsening other neurological symptoms. Furthermore, these patients often have several comorbidities and are frequently on several drugs which means that the approach to pain management must be carefully elaborated by a multidisciplinary team approach.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 4","pages":"Pages 380-405"},"PeriodicalIF":2.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141406031","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}
Pub Date : 2025-05-01Epub Date: 2024-05-29DOI: 10.1016/j.nrl.2023.06.005
L.A. Rodríguez de Antonio , R. Fernández de Córdoba-García , N. Herrero-Muñoz , A. Ontañón-Nasarre , I. García-Castañón
Introduction
Adherence is a modifiable factor to disease-modifying treatments response in patients with multiple sclerosis (MS). Our objective is to assess the risk factors associated with inadequate adherence.
Method
Retrospective study through review of medical records and review of the database of pharmaceutical dispensing of patients with MS of a tertiary hospital from 2004 to 2022. A multivariate logistic regression analysis of demographic, clinical, nosological, and therapeutic factors was performed between adherent and non-adherent patients and treatments.
Result
546 treatments of 284 patients (67.3% women, age 38.4 ± 10.0 years) were analyzed, observing 87.5% adherence. Non-adherent patients presented a higher EDSS at the end of treatment, were more frequently patients with secondary progressive multiple sclerosis, and had a higher proportion of cognitive impairment, psychiatric pathology, polypharmacy, and alcohol and drug use. After the multivariable analysis, risk factors were cognitive impairment (OR: 3.82 [1.51-9.70], P = .005), and alcohol and drug use (OR: 22.83 [7.32-71.20], P < .001). On the contrary, oral drugs favored better adherence (OR: 0.29 [0.12-0.75], P = .01).
Conclusions
Among many factors, alcohol or drug use and cognitive impairment are the major risk factors for low therapeutic adherence in patients with MS.
依从性是多发性硬化症（MS）患者改善疾病治疗反应的一个可改变因素。我们的目的是评估与依从性不足相关的危险因素。方法通过查阅某三级医院2004 - 2022年MS患者的病历资料和调剂数据库进行回顾性研究。在坚持治疗和不坚持治疗的患者之间进行人口统计学、临床、分类学和治疗因素的多因素logistic回归分析。结果共分析284例患者546例治疗方案，其中女性67.3%，年龄38.4±10.0岁，依从性87.5%。非依从性患者在治疗结束时出现更高的EDSS，更多的是继发性进行性多发性硬化症患者，并且认知障碍、精神病理、多种药物、酒精和药物使用的比例更高。多变量分析后，危险因素为认知障碍（OR: 3.82 [1.51-9.70], P = 0.005）、酒精和药物使用(OR: 22.83 [7.32-71.20], P <；措施)。相反，口服药物的依从性更好（OR: 0.29 [0.12-0.75], P = 0.01）。结论在诸多因素中，酒精或药物使用和认知功能障碍是MS患者治疗依从性低的主要危险因素。
{"title":"Adherencia al tratamiento en pacientes con esclerosis múltiple: factores de riesgo","authors":"L.A. Rodríguez de Antonio , R. Fernández de Córdoba-García , N. Herrero-Muñoz , A. Ontañón-Nasarre , I. García-Castañón","doi":"10.1016/j.nrl.2023.06.005","DOIUrl":"10.1016/j.nrl.2023.06.005","url":null,"abstract":"<div><h3>Introduction</h3><div>Adherence is a modifiable factor to disease-modifying treatments response in patients with multiple sclerosis (MS). Our objective is to assess the risk factors associated with inadequate adherence.</div></div><div><h3>Method</h3><div>Retrospective study through review of medical records and review of the database of pharmaceutical dispensing of patients with MS of a tertiary hospital from 2004 to 2022. A multivariate logistic regression analysis of demographic, clinical, nosological, and therapeutic factors was performed between adherent and non-adherent patients and treatments.</div></div><div><h3>Result</h3><div>546 treatments of 284 patients (67.3% women, age 38.4<!--> <!-->±<!--> <!-->10.0 years) were analyzed, observing 87.5% adherence. Non-adherent patients presented a higher EDSS at the end of treatment, were more frequently patients with secondary progressive multiple sclerosis, and had a higher proportion of cognitive impairment, psychiatric pathology, polypharmacy, and alcohol and drug use. After the multivariable analysis, risk factors were cognitive impairment (OR: 3.82 [1.51-9.70], <em>P</em> <!-->=<!--> <!-->.005), and alcohol and drug use (OR: 22.83 [7.32-71.20], <em>P</em> <!--><<!--> <!-->.001). On the contrary, oral drugs favored better adherence (OR: 0.29 [0.12-0.75], <em>P</em> <!-->=<!--> <!-->.01).</div></div><div><h3>Conclusions</h3><div>Among many factors, alcohol or drug use and cognitive impairment are the major risk factors for low therapeutic adherence in patients with MS.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 4","pages":"Pages 353-360"},"PeriodicalIF":2.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143870258","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}
Pub Date : 2025-05-01Epub Date: 2024-07-31DOI: 10.1016/j.nrl.2024.01.001
E. Cubo , J. Rivadeneyra , L. Simón-Vicente , L. Aguado , S. Calvo , M. Saiz-Rodríguez , N. Mariscal , I. Muñoz-Siscart , D. Diaz-Piñeiro , I. Miguel-Pérez , G. Gámez-Leyva , Á. García-Bustillo , A. Martinez-Descalls , Spanish Enroll Mortality Study
Introduction
Despite the wealth of evidence suggesting a protective role of lifestyle factors on Huntington's disease (HD) onset and progression, their association with mortality has not been extensively studied. The aim of this study was to examine whether lifestyle factors such as caffeine and alcohol consumption, smoking, physical activity level, and Mediterranean diet (MeDi) adherence are associated with mortality among a Spanish cohort of patients with HD with a 9-year surveillance period.
Methods
This national study was performed using a nested, observational, longitudinal design. We included subjects diagnosed with HD who participated in the European Huntington's disease network and Enrol-HD studies. Date of death and baseline lifestyle factor information, demographics, disease severity assessed by the Unified Huntington's Disease Rating Scale (UHDRS), Problem Behaviours Assessment, total functional capacity (TFC) scores, and comorbidities were collected. Adjusted Cox proportional hazards models were conducted to determine the association of lifestyle factors with mortality.
Results
We included 87 patients (52 females) with a mean age of 48.62 ± 14.43 years and CAG repeats of 43.76 ± 5.92. Sixteen deaths were recorded. After correcting for multiple comparisons, deceased patients had higher UHDRS scores at baseline and lower caffeine consumption than live patients. In multivariate Cox regression models, after adjusting for age, CAG repeats, and TFC, mortality risk was associated with lower caffeine consumption (HR 0.13, 95% CI 0.04, 0.45).
Conclusions
This national-based study suggests that increased caffeine consumption is associated with decreased HD mortality. Our results may help guide clinicians in counselling lifestyle practices for decreasing mortality in HD.
尽管有大量证据表明生活方式因素对亨廷顿舞蹈病（HD）的发病和进展具有保护作用，但其与死亡率的关系尚未得到广泛研究。本研究的目的是研究生活方式因素，如咖啡因和酒精的摄入、吸烟、体育活动水平和地中海饮食（MeDi）依从性是否与西班牙HD患者9年监测期的死亡率相关。方法本研究采用巢式、观察性、纵向设计。我们纳入了参与欧洲亨廷顿舞蹈病网络和罗登氏舞蹈症研究的诊断为HD的受试者。收集死亡日期和基线生活方式因素信息、人口统计学、统一亨廷顿病评定量表（UHDRS）评估的疾病严重程度、问题行为评估、总功能容量（TFC）评分和合并症。采用调整后的Cox比例风险模型来确定生活方式因素与死亡率的关系。结果87例患者（女性52例），平均年龄48.62±14.43岁，CAG重复次数43.76±5.92次。16人死亡。在对多重比较进行校正后，与活着的患者相比，死亡患者在基线时的UHDRS评分更高，咖啡因摄入量更低。在多变量Cox回归模型中，在调整了年龄、CAG重复数和TFC后，死亡风险与较低的咖啡因摄入量相关（HR 0.13, 95% CI 0.04, 0.45）。结论：这项全国性的研究表明，咖啡因摄入量的增加与HD死亡率的降低有关。我们的结果可能有助于指导临床医生咨询生活方式实践，以降低HD的死亡率。
{"title":"The association between lifestyle factors and mortality in Huntington's disease","authors":"E. Cubo , J. Rivadeneyra , L. Simón-Vicente , L. Aguado , S. Calvo , M. Saiz-Rodríguez , N. Mariscal , I. Muñoz-Siscart , D. Diaz-Piñeiro , I. Miguel-Pérez , G. Gámez-Leyva , Á. García-Bustillo , A. Martinez-Descalls , Spanish Enroll Mortality Study","doi":"10.1016/j.nrl.2024.01.001","DOIUrl":"10.1016/j.nrl.2024.01.001","url":null,"abstract":"<div><h3>Introduction</h3><div>Despite the wealth of evidence suggesting a protective role of lifestyle factors on Huntington's disease (HD) onset and progression, their association with mortality has not been extensively studied. The aim of this study was to examine whether lifestyle factors such as caffeine and alcohol consumption, smoking, physical activity level, and Mediterranean diet (MeDi) adherence are associated with mortality among a Spanish cohort of patients with HD with a 9-year surveillance period.</div></div><div><h3>Methods</h3><div>This national study was performed using a nested, observational, longitudinal design. We included subjects diagnosed with HD who participated in the European Huntington's disease network and Enrol-HD studies. Date of death and baseline lifestyle factor information, demographics, disease severity assessed by the Unified Huntington's Disease Rating Scale (UHDRS), Problem Behaviours Assessment, total functional capacity (TFC) scores, and comorbidities were collected. Adjusted Cox proportional hazards models were conducted to determine the association of lifestyle factors with mortality.</div></div><div><h3>Results</h3><div>We included 87 patients (52 females) with a mean age of 48.62<!--> <!-->±<!--> <!-->14.43 years and CAG repeats of 43.76<!--> <!-->±<!--> <!-->5.92. Sixteen deaths were recorded. After correcting for multiple comparisons, deceased patients had higher UHDRS scores at baseline and lower caffeine consumption than live patients. In multivariate Cox regression models, after adjusting for age, CAG repeats, and TFC, mortality risk was associated with lower caffeine consumption (HR 0.13, 95% CI 0.04, 0.45).</div></div><div><h3>Conclusions</h3><div>This national-based study suggests that increased caffeine consumption is associated with decreased HD mortality. Our results may help guide clinicians in counselling lifestyle practices for decreasing mortality in HD.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 4","pages":"Pages 361-371"},"PeriodicalIF":2.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143870855","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}
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