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1.
Neurologia (Engl Ed) ; 2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-38431252

RESUMEN

INTRODUCTION: Charcot-Marie-Tooth disease (CMT) is classified according to neurophysiological and histological findings, the inheritance pattern, and the underlying genetic defect. The objective of these guidelines is to offer recommendations for the diagnosis, prognosis, follow-up, and treatment of this disease in Spain. MATERIAL AND METHODS: These consensus guidelines were developed through collaboration by a multidisciplinary panel encompassing a broad group of experts on the subject, including neurologists, paediatric neurologists, geneticists, physiatrists, and orthopaedic surgeons. RECOMMENDATIONS: The diagnosis of CMT is clinical, with patients usually presenting a common or classical phenotype. Clinical assessment should be followed by an appropriate neurophysiological study; specific recommendations are established for the parameters that should be included. Genetic diagnosis should be approached sequentially; once PMP22 duplication has been ruled out, if appropriate, a next-generation sequencing study should be considered, taking into account the limitations of the available techniques. To date, no pharmacological disease-modifying treatment is available, but symptomatic management, guided by a multidiciplinary team, is important, as is proper rehabilitation and orthopaedic management. The latter should be initiated early to identify and improve the patient's functional deficits, and should include individualised exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transfer. The follow-up of patients with CMT is exclusively clinical, and ancillary testing is not necessary in routine clinical practice.

2.
Neurologia (Engl Ed) ; 38(6): 379-386, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37120112

RESUMEN

INTRODUCTION: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019. PATIENTS AND METHODS: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019. RESULTS: We gathered data from a total of 1933 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 938 patients were men (48.5%) and 995 were women (51.5%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7. CONCLUSIONS: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials.


Asunto(s)
Ataxia Cerebelosa , Paraplejía Espástica Hereditaria , Masculino , Humanos , Femenino , Persona de Mediana Edad , Paraplejía Espástica Hereditaria/epidemiología , Paraplejía Espástica Hereditaria/genética , Estudios Transversales , Estudios Retrospectivos , España/epidemiología
3.
Front Chem ; 10: 945596, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35910746

RESUMEN

The production of biobutanol from bioethanol by the Guerbet reaction is an alternative pathway to renewable sources. The commercial viability of this green route requires improvements in the process development. This study experimentally examines the influence of operating conditions on the performance of a Mg-Al spinel catalyst prepared from hydrotalcite precursors. This catalyst demonstrates an exceptional performance in the Guerbet reaction with a promising activity/butanol selectivity balance, excellent long-term stability, and very-low-carbon footprint (CO2 generation as by-products is minimal). This study showcases a systematic strategy to optimize the reaction parameters in the Guerbet reaction for biobutanol production using an advanced spinel catalyst. Upon carefully adjusting temperature, pressure, space velocity, and reactants co-feeding, very promising conversion (35%) and butanol selectivity values (48%) were obtained.

4.
Neurologia (Engl Ed) ; 2021 Mar 25.
Artículo en Inglés, Español | MEDLINE | ID: mdl-33775475

RESUMEN

INTRODUCTION: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019. PATIENTS AND METHODS: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019. RESULTS: We gathered data from a total of 1.809 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 920 patients were men (50.8%) and 889 were women (49.2%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7. CONCLUSIONS: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials.

5.
Neurologia (Engl Ed) ; 35(9): 621-627, 2020.
Artículo en Inglés, Español | MEDLINE | ID: mdl-32912745

RESUMEN

INTRODUCTION: We analysed the neurological complications of patients with severe SARS-CoV-2 infection who required intensive care unit (ICU) admission. PATIENTS AND METHODS: We conducted a retrospective, observational, descriptive study of consecutive patients admitted to the ICU due to severe respiratory symptoms secondary to SARS-CoV-2 infection between 1 April and 1 June 2020. RESULTS: We included 30 patients with neurological symptoms; 21 were men (72.40%), and mean age (standard deviation [SD]) was 57.41 years (11.61). The mean duration of ICU stay was 18.83 days (14.33). The neurological conditions recorded were acute confusional syndrome in 28 patients (93.33%), neuromuscular disease in 15 (50%), headache in 5 (16.66%), cerebrovascular disease in 4 (13.33%), and encephalopathies/encephalitis in 4 (13.33%). CSF analysis results were normal in 6 patients (20%). Brain MRI or head CT showed alterations in 20 patients (66.6%). EEG was performed in all patients (100%), with 8 (26.66%) showing abnormal findings. In 5 of the 15 patients with clinical myopathy, diagnosis was confirmed with electroneuromyography. We found a correlation between older age and duration of ICU stay (P=.002; 95%CI: 4.032-6.022; OR: 3,594). CONCLUSIONS: Severe COVID-19 mainly affects men, as observed in other series. Half of our patients presented acute myopathy, and almost all patients left the ICU with acute confusional syndrome, which fully resolved; no correlation was found with EEG or neuroimaging findings. Older age is associated with longer ICU stay.


Asunto(s)
Betacoronavirus , Infecciones por Coronavirus/complicaciones , Enfermedad Crítica , Enfermedades Musculares/etiología , Enfermedades del Sistema Nervioso/etiología , Pandemias , Neumonía Viral/complicaciones , Enfermedad Aguda , Adulto , Factores de Edad , Anciano , COVID-19 , Hemorragia Cerebral/diagnóstico por imagen , Hemorragia Cerebral/epidemiología , Hemorragia Cerebral/etiología , Confusión/epidemiología , Confusión/etiología , Infecciones por Coronavirus/epidemiología , Cuidados Críticos , Femenino , Humanos , Tiempo de Internación/estadística & datos numéricos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Enfermedades Musculares/epidemiología , Enfermedades del Sistema Nervioso/epidemiología , Neuroimagen , Neumonía Viral/epidemiología , Estudios Retrospectivos , SARS-CoV-2 , España/epidemiología
6.
Neurologia ; 35(9): 621-627, 2020.
Artículo en Español | MEDLINE | ID: mdl-38620654

RESUMEN

Introduction: We analysed the neurological complications of patients with severe SARS-CoV-2 infection who required intensive care unit (ICU) admission. Patients and methods: We conducted a retrospective, observational, descriptive study of consecutive patients admitted to the ICU due to severe respiratory symptoms secondary to SARS-CoV-2 infection between 1 April and 1 June 2020. Results: We included 30 patients with neurological symptoms; 21 were men (72.40%), and mean age (standard deviation [SD]) was 57.41 years (11.61). The mean duration of ICU stay was 18.83 days (14.33). The neurological conditions recorded were acute confusional syndrome in 28 patients (93.33%), neuromuscular disease in 15 (50%), headache in 5 (16.66%), cerebrovascular disease in 4 (13.33%), and encephalopathies/encephalitis in 4 (13.33%). CSF analysis results were normal in 6 patients (20%). Brain MRI or head CT showed alterations in 20 patients (66.6%). EEG was performed in all patients (100%), with 8 (26.66%) showing abnormal findings. In 5 of the 15 patients with clinical myopathy, diagnosis was confirmed with electroneuromyography. We found a correlation between older age and duration of ICU stay (P = .002; 95% CI: 4.032-6.022; OR: 3,594). Conclusions: Severe COVID-19 mainly affects men, as observed in other series. Half of our patients presented acute myopathy, and almost all patients left the ICU with acute confusional syndrome, which fully resolved; no correlation was found with EEG or neuroimaging findings. Older age is associated with longer ICU stay.

7.
Rev Neurol ; 67(5): 157-167, 2018 Sep 01.
Artículo en Español | MEDLINE | ID: mdl-30047118

RESUMEN

INTRODUCTION: Fingolimod is a disease modifying therapies, which has showed clinical efficacy and an acceptable safety profile in clinical trials with relapsing-remitting multiple sclerosis (RRMS) patients. AIM: To assess fingolimod effectiveness and safety in patients with RRMS in clinical practice. PATIENTS AND METHODS: We present an interim analysis (July 2015) of MS NEXT, an observational, retrospective and multicenter study. 442 patients were included (mean age: 41 ± 9 years; median baseline EDSS: 3.0; 70% female; 284 previously treated with first-line disease modifying therapies, 139 with natalizumab and 19 without a previous treatment; mean fingolimod treatment duration: 25 ± 9 months) treated with fingolimod from November 2011 and with at least 12 months follow-up. 56 neurology-unit Spanish hospitals enrolled patients. Basal clinical and demographic data were recorded. Relapses, EDSS scores and radiological activity were recorded at baseline and annually. Adverse events were also recorded during the follow-up period. RESULTS: After two years of follow-up: annual relapse rates decreased by 76%, the proportion of relapse-free patients was 67%, of disability progression-free patients confirmed at 3 months was 91%, of relapse and disability progression-free patients was 63%, of radiological activity-free patients was 50%, and the proportion of relapse, disability progression and radiological activity-free patients was 35%. Only 3.9% of patients discontinued fingolimod permanently during the first year of treatment. CONCLUSIONS: In this interim analysis, most of patients treated with fingolimod in clinical practice had a controlled clinical disease activity, stable disability progression and high persistency.


TITLE: Efectividad y seguridad del fingolimod en la practica clinica habitual en pacientes con esclerosis multiple remitente recurrente en España: analisis intermedio del estudio MS NEXT.Introduccion. El fingolimod es un tratamiento modificador de la enfermedad que ha demostrado eficacia y seguridad en ensayos clinicos en pacientes con esclerosis multiple remitente recurrente (EMRR). Objetivo. Evaluar la efectividad y la seguridad del fingolimod en pacientes con EMRR en la practica clinica. Pacientes y metodos. Se presentan los resultados del analisis intermedio (julio de 2015) del MS NEXT, un estudio observacional, multicentrico y retrospectivo. Se incluyo a 442 pacientes (edad media: 41 ± 9 años; escala expandida del estado de discapacidad basal, mediana: 3; 70% mujeres; 284 previamente tratados con tratamientos modificadores de la enfermedad de primera linea, 139 con natalizumab y 19 naive; media de tratamiento con fingolimod: 25 ± 9 meses) tratados con fingolimod a partir de noviembre de 2011 y con al menos 12 meses de seguimiento. Participaron 56 hospitales españoles. Se recogieron datos demograficos y clinicos (basal y anualmente, numero de brotes, puntuacion en la escala expandida del estado de discapacidad y actividad radiologica). Tambien se registraron los efectos adversos durante el seguimiento. Resultados. Tras dos años de tratamiento, la tasa anualizada de brotes se redujo un 76%; el 67% de los pacientes estaba libre de brotes; el 91%, libre de progresion de la discapacidad confirmada a los tres meses; el 63%, libre de brotes y progresion de discapacidad; el 50%, libre de actividad radiologica, y el 35%, libre de brotes, progresion de discapacidad y actividad radiologica. Un 3,9% abandono el fingolimod permanentemente. Conclusiones. En este analisis intermedio, la mayoria de los pacientes tratados con fingolimod en la practica clinica presenta una actividad clinica controlada y una elevada persistencia al tratamiento.


Asunto(s)
Clorhidrato de Fingolimod/uso terapéutico , Esclerosis Múltiple Recurrente-Remitente/tratamiento farmacológico , Adulto , Progresión de la Enfermedad , Resistencia a Medicamentos , Sustitución de Medicamentos , Femenino , Clorhidrato de Fingolimod/efectos adversos , Enfermedades Gastrointestinales/inducido químicamente , Cardiopatías/inducido químicamente , Enfermedades Hematológicas/inducido químicamente , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Esclerosis Múltiple Recurrente-Remitente/diagnóstico por imagen , Natalizumab/uso terapéutico , Estudios Retrospectivos
8.
Neurologia ; 32(5): 284-289, 2017 Jun.
Artículo en Inglés, Español | MEDLINE | ID: mdl-26874570

RESUMEN

INTRODUCTION: Status epilepticus (SE) is a neurological emergency associated with significant mortality and morbidity. We analyse characteristics of this entity in our population. METHODS: Data from electronic medical records of adults diagnosed with SE were collected retrospectively from 5 hospitals over 4 years. RESULTS: Data reflected 84 episodes of SE in 77 patients with a mean age of 60.3 years. Of this sample, 52.4% had a previous history of epilepsy. Status classification: 47.6% tonic-clonic, 21.4% complex partial, 17.9% partial motor, 6% partial simple, 3.6% myoclonic, and 3.6% subtle SE. Based on the duration of the episode, SE was defined in this study as early stage (up to 30min) in 13.1%, established (30-120min) in 20.2%, refractory (more than 120min) in 41.7%, and super-refractory (episodes continuing or recurring after more than 24h of anaesthesia) in 13.1%. Ten patients (11.9%) died when treatment failed to control SE. The cumulative percentage of success achieved was 8.3% with the first treatment, 27.3% for the second, 48.7% for the third, 58.2% for the fourth, 70.1% for the fifth, 80.8% for the sixth, 83.2% for the seventh, and 84.4% for the eighth. CONCLUSIONS: In our study, we found that SE did not respond to treatment within 2h in approximately half the cases and 11.9% of the patients died without achieving seizure control, regardless of the type of status. Half the patients responded by the third treatment but some patients needed as many as 8 treatments to resolve seizures. Using large registers permitting analysis of the different types and stages of SE is warranted.


Asunto(s)
Anticonvulsivantes/uso terapéutico , Epilepsia/tratamiento farmacológico , Estado Epiléptico/tratamiento farmacológico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Estado Epiléptico/mortalidad , Factores de Tiempo
9.
Neurologia ; 26(7): 397-404, 2011 Sep.
Artículo en Español | MEDLINE | ID: mdl-21345536

RESUMEN

INTRODUCTION: cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease caused by a deficiency of mitochondrial enzyme sterol 27-hydrolylase. Such a deficiency results in a reduced production of chenodeoxycholic acid and in an increased formation of cholestanol. It is clinically characterized by cataracts, diarrhoea, xanthomas, premature arteriosclerosis and a number of progressive neurological symptoms. Although cholestanol levels are used for the diagnosis of CTX, their correlation with the clinical symptoms and their prognostic usefulness have not been assessed so far. METHODS: we reviewed 14 CTX patients diagnosed between 1995 and 2008 in two reference centres for the genetic diagnosis of this disorder, whose cholestanol levels had been recorded. We studied the main demographic, clinical and therapeutical data and their correlation with plasma cholestanol levels. RESULTS: the average cholestanol level at diagnosis was 105.8 µmol/l. These levels did not correlate with any neurological symptoms or with disability at diagnosis scored by the EDSS. After treatment, all patients achieved a significant reduction in plasma cholestanol levels (average reduction of 91 µmol/l in an average follow-up of 34 months), although only one patient remained clinically stable. CONCLUSIONS: high cholestanol levels are very useful for diagnosis of CTX but they do not have a prognostic value (they do not correlate with severity). Normalisation of cholestanol levels is not always associated with clinical stabilisation. However, follow-up of cholestanol levels can be useful for the dose adjustment.


Asunto(s)
Colestanol/sangre , Xantomatosis Cerebrotendinosa/sangre , Xantomatosis Cerebrotendinosa/diagnóstico , Adolescente , Adulto , Edad de Inicio , Niño , Progresión de la Enfermedad , Humanos , Masculino , Pronóstico , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Xantomatosis Cerebrotendinosa/genética , Xantomatosis Cerebrotendinosa/fisiopatología , Adulto Joven
10.
Environ Sci Technol ; 43(24): 9393-9, 2009 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-20000534

RESUMEN

A model of a seawater flue gas desulfurization process (SFGD) where oxidation of the absorbed SO(2) is catalyzed by activated carbon is presented. The modeled SFGD process is comprised of two main units, an absorption packed scrubber, where SO(2) absorption takes place, and an oxidation basin, where the absorbed SO(2) is catalytically oxidized to sulfate, a natural component of seawater. The model takes into account the complex physical-chemical features of the process, combining mass-transfer, kinetics and equilibrium equations, and considering the electrolyte nature of the liquid phase. The model was validated with data from a SFGD pilot plant and a sensitivity analysis was performed, showing its predictive capability. The model is a useful tool for designing industrial desulfurization units with seawater.


Asunto(s)
Conservación de los Recursos Energéticos , Gases , Modelos Químicos , Agua de Mar/química , Sulfatos/química , Azufre/química , Carbono/química , Catálisis , Conservación de los Recursos Energéticos/legislación & jurisprudencia , Conservación de los Recursos Energéticos/métodos , Oxidación-Reducción , Centrales Eléctricas/instrumentación
11.
Neurologia ; 24(3): 165-9, 2009 Apr.
Artículo en Español | MEDLINE | ID: mdl-19418292

RESUMEN

INTRODUCTION: Central pontine myelinolysis (CPM) is a disease characterized by the destruction of the myelin in the brainstem, generally associated with alcoholism, rapid correction of hyponatremia and other electrolytic alterations. The clinical symptoms, etiopathogenic factors, neuroimaging and evolution of the series of patients diagnosed of central pontine/extrapontine myelinolysis (CPEM) are described. METHODS: Review of all the clinical histories with diagnoses of CPM made in our hospital since 1989. All the cases were reviewed, ruling out those having a magnetic resonance or clinical picture not clearly consistent with the diagnosis. Age, symptoms, comorbidity, associated metabolite alterations and clinical evolution were analyzed. RESULTS: 13 cases whose ages ranged from 28 to 81 years were identified. Hyponatremia was identified during the clinical course in six patients, with neurological worsening associated to its correction in 3 of them. No sodium disorders were identified in 7 patients. Seven of the patients had associated alcoholism. Hyperintense lesions were found in all the cases in T2 sequences and FLAIR in the brainstem consistent with the typical pattern of the osmotic demyelinization syndrome. The severity of the clinical picture identified varied from a symptomatic patient to coma in 9 cases. In regards to the clinical course, four patients completely recovered, eight had residual symptoms with different severity and one patient died. CONCLUSIONS: The series is representative of the clinical and etiopathogenic spectrum of the osmotic demyelinization syndrome. Most of the clinically symptomatic patients improve if the secondary complications are controlled.


Asunto(s)
Imagen por Resonancia Magnética , Mielinólisis Pontino Central/patología , Puente/patología , Adulto , Anciano , Anciano de 80 o más Años , Progresión de la Enfermedad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Vaina de Mielina/patología
12.
Environ Sci Technol ; 41(20): 7114-9, 2007 Oct 15.
Artículo en Inglés | MEDLINE | ID: mdl-17993156

RESUMEN

In previous articles by the authors on seawater S(IV) oxidation kinetics, a significant catalytic effect was demonstrated by means of a commercially available activated carbon. The aims of this study carried out at pilot plant scale were to assess the use of high-efficiency structured packing and to validate the positive results obtained previously in laboratory studies. A comparison between a packed tower and a spray column was made by maintaining the same desulfurization efficiency. A 47% reduction in seawater flow can be obtained with a packed tower. This option seems to be more economical, with a reduction in operation costs of least of 33%. With the appropriate activated carbon, it is possible to reach a greater oxidation rate at a low pH level than by operating conventionally at a high pH level without a catalyst. A preliminary technical and financial comparison between the advanced seawater desulfurization process (equipped with a packed tower and a catalytic oxidation plant) and the conventional process (spray tower and noncatalytic oxidation) was carried out.


Asunto(s)
Gases/química , Azufre/química , Carbono/química , Catálisis , Oxidación-Reducción , Proyectos Piloto , Agua de Mar
13.
Horm Metab Res ; 38(11): 758-60, 2006 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-17111304

RESUMEN

Parkinson's disease (PD) is an age-related neurodegenerative disease characterized by a progressive motor disorder, but frequently is accompanied by autonomic symptoms such as hypotension. Together with the decrease of dopamine, significant decreases in aminopeptidase activities have been reported in PD brains. However, up to date there are no studies about changes of aminopeptidase activities in plasma of PD patients. We studied plasma activities of alanyl-, aspartyl-(AspAP), cystinyl-(CysAP) and glutamyl-aminopeptidase (GluAP) in two groups of subjects: control (n=41) and PD (n=48). Plasma activities of AspAP, CysAP, and GluAP showed significant decreases of 24.9% (p<0.05), 39.4% (p<0.01) and 33.3% (p<0.01), respectively, in PD group. These aminopeptidases are involved in the metabolism of circulating peptides such as the ones of the renin-angiotensin system. The importance of aminopeptidases in striatal dopamine content and in neuroendocrine system in PD is discussed.


Asunto(s)
Aminopeptidasas/sangre , Enfermedad de Parkinson/sangre , Anciano , Angiotensinas/sangre , Colecistoquinina/sangre , Dopamina/metabolismo , Encefalinas/sangre , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neurotensina/sangre , Sustancia P/sangre , Vasopresinas/sangre
15.
J Neural Transm (Vienna) ; 112(10): 1345-53, 2005 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-15785866

RESUMEN

A G309D mutation in the PINK1 gene in a consanguineous Spanish kindred with seven siblings, three of whom are clinically affected, has recently been shown to be a cause of the PARK6 form of autosomal-recessive Parkinson's syndrome. In this family, we studied pre- and postsynaptic dopaminergic function using 123I-FP-CIT- and 123I-iodobenzamide-SPECT to determine binding to the presynaptic dopamine transporter (DAT) and postsynaptic D2 receptors respectively. All three PARK6 patients showed reduced striatal DAT binding with posterior preponderance similar to sporadic idiopathic PD, but only one patient showed significant striatal asymmetry. In two of the siblings, DAT binding was markedly increased. IBZM-SPECT was normal in both patients and sibs. Our findings indicate that 123I-FP-CIT-SPECT shows similar DAT binding in PARK6 patients compared to idiopathic Parkinson's disease. The increased DAT binding in heterozygous PARK6 carriers may be a new very early preclinical finding, but its significance is still unclear.


Asunto(s)
Dopamina/metabolismo , Enfermedad de Parkinson/diagnóstico por imagen , Enfermedad de Parkinson/genética , Proteínas Quinasas/genética , Proteínas Quinasas/metabolismo , Tomografía Computarizada de Emisión de Fotón Único/métodos , Adulto , Benzamidas , Radioisótopos de Carbono , Cuerpo Estriado/diagnóstico por imagen , Cuerpo Estriado/fisiopatología , Antagonistas de Dopamina , Proteínas de Transporte de Dopamina a través de la Membrana Plasmática/metabolismo , Salud de la Familia , Femenino , Genes Recesivos , Humanos , Radioisótopos de Yodo , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/metabolismo , Pirrolidinas , Hermanos , Sustancia Negra/diagnóstico por imagen , Sustancia Negra/fisiopatología , Tropanos
16.
Pharmacogenomics J ; 5(2): 135-41, 2005.
Artículo en Inglés | MEDLINE | ID: mdl-15668727

RESUMEN

Depression is a common symptom in Parkinson's disease (PD) and it is present in up to 40% of the patients. The cause of depression in PD is thought to be related to disturbance of monoamine neurotransmission. The endogenous cannabinoid system mediates different brain processes that play a role in the control of behaviour and emotions. Cannabinoid function may be altered in neuropsychiatry diseases, directly or through interactions with monoamine, GABA and glutamate systems. For this reason, we have investigated whether there is a genetic risk factor for depression in PD linked to the polymorphisms of CB1 receptor gene. Depression was more frequent in patients with PD than in controls with osteoarthritis. The presence of depression did not correlate with the stage of the disease but it was more frequent in patients with pure akinetic syndrome than in those with tremoric or mixed type PD. The CB1 receptor gene polymorphism (AAT)n is considered to modify the transcription of the gene and, therefore, it may have functional relevance. We analysed the length of the polymorphic triplet (AAT)n of the gene that encodes CB1 (CNR1) receptor in 89 subjects (48 PD patients and 41 controls). In patients with PD, the presence of two long alleles, with more than 16 repeated AAT trinucleotides in the CNR1 gene, was associated with a reduced prevalence of depression (Fisher's exact test: P=0.003). This association did not reach significant differences in the control group, but the number of control individuals with depression was too small to allow for statistical analysis. Since the alleles with long expansions may have functional impact in cannabinoid neurotransmission, our data suggest that the pharmacological manipulation of cannabinoid neurotransmission could open a new therapeutic approach for the treatment of depression in PD and possibly in other conditions.


Asunto(s)
Moléculas de Adhesión Celular Neuronal/genética , Trastorno Depresivo/etiología , Trastorno Depresivo/genética , Neuropéptidos/genética , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/genética , Receptores de Superficie Celular/genética , Anciano , ADN/genética , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Actividad Motora/fisiología , Polimorfismo Genético , Protocadherinas , Escalas de Valoración Psiquiátrica , Caracteres Sexuales , Repeticiones de Trinucleótidos/genética
17.
J Pharm Biomed Anal ; 36(5): 969-74, 2005 Jan 04.
Artículo en Inglés | MEDLINE | ID: mdl-15620521

RESUMEN

A simple and sensitive method has been proposed for the amikacin sulphate determination. It is based on the inhibition of the chemiluminescence (CL) emission generated from the oxidation of luminol in alkaline medium by H2O2 catalyzed by Cu(II), due to the interaction caused by amikacin, which forms a robust complex with the catalyst. The optimization of the experimental and instrumental variables affecting this CL inhibition effect has been carried out using statistical models, based on the application of two-level full factorial and Box-Behnken designs. The performance characteristics of the proposed method have been established, showing that the method is efficient to determine amikacin sulphate in the linear range of 9.89-20 mg/L with a detection limit of 2.97 mg/L. It has been successfully applied to the amikacin sulphate determination in pharmaceutical formulations.


Asunto(s)
Amicacina/metabolismo , Cobre/metabolismo , Mediciones Luminiscentes/métodos , Luminol/metabolismo , Amicacina/análisis , Catálisis , Cobre/análisis , Luminol/análisis
18.
Anal Bioanal Chem ; 377(2): 281-6, 2003 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-12768265

RESUMEN

A new sensitive analytical procedure for the determination of albumin is presented, based on the participation of a fluorescent derivative of the protein in the peroxyoxalate chemiluminescent system using imidazole as a catalyst. The chemiluminescent emission is detected in a flow injection analysis (FIA) system, employing micellar medium as carrier, whereas the derivatisation reaction is carried out off-line using fluorescamine as a label. The optimisation of the operational and chemical variables of the method such as concentration of reagents, flow-rates, injection volume, etc., involves the use of experimental designs, including Draper-Lin small composite design, scarcely used in analytical chemistry. The performance characteristics were established and a detection limit of about 0.1 fmol of albumin was obtained. The method has been validated and satisfactorily applied to the determination of albumin in human serum and urine.


Asunto(s)
Análisis de Inyección de Flujo/métodos , Oxalatos/química , Albúmina Sérica/análisis , Humanos , Mediciones Luminiscentes , Micelas , Sensibilidad y Especificidad
19.
Rev Neurol ; 32(6): 511-9, 2001.
Artículo en Español | MEDLINE | ID: mdl-11353987

RESUMEN

INTRODUCTION: Acute cerebrovascular disease (ACVA) makes up a high proportion of the neurological patients admitted to hospital, but we do not know the exact figures in our setting. We consider that it would be useful if the use of health-care resources for attending these patients was to be evaluated and studied by the neurologists who direct them. OBJECTIVE: To analyze a predetermined series of variables related to strokes in our setting. Patients and methods. We made a descriptive analysis by means of a questionnaire, recording variables related to the admission to the neurology department of patients with probable ACVA, at 100 days and with further evaluation 6 months later. RESULTS: We recorded 107 cases with ACVA confirmed in 101 of 104 patients with averages of: 70.54 years, average admission 13.53 days and intrahospital mortality 5.8%. The most common neurological findings were paralysis and speech disorder. The proportion of ischaemic stroke as compared with haemorrhagic stroke was 87.5% to 12.5%. The prevalence of usual risk factors was: arterial hypertension, diabetes and cardiopathy. The percentage of patients given rehabilitation treatment during their admission was 41.34%. A proportion, 37.2%, of the patients were referred to Hospital San Rafael for convalescence and treatment. The average time before evaluation by a neurologist was 30.23 hours. Eleven of 86 patients who answered a weekly questionnaire died (12.8%) and 54/86 had no rehabilitation treatment during the week (62.8%). CONCLUSIONS: We found no differences in the epidemiological characteristics as compared with other studies. The excessive lapse of time before attending the emergency department was striking, as was the delay in receiving neurological attention since there was no emergency neurologist available and fewer haemorrhagic strokes since there was no neurosurgical service available. There was little use of salicylates as a platelet anti-aggregrant agent on discharge from hospital, little rehabilitation treatment six months after the stroke, and twice as much mortality as when the patients were in hospital. We consider that a more detailed and extensive analysis would be fully justified in our setting, preferably with more people interested in the early and late treatment of ACVA taking part and prolonged follow-up of these patients.


Asunto(s)
Isquemia Encefálica/rehabilitación , Admisión del Paciente , Enfermedad Aguda , Adulto , Anciano , Afasia/epidemiología , Afasia/etiología , Afasia/terapia , Encéfalo/irrigación sanguínea , Isquemia Encefálica/complicaciones , Isquemia Encefálica/tratamiento farmacológico , Circulación Cerebrovascular/fisiología , Servicios Médicos de Urgencia/provisión & distribución , Femenino , Estudios de Seguimiento , Hospitalización , Humanos , Masculino , Persona de Mediana Edad , Parálisis/epidemiología , Parálisis/etiología , Parálisis/rehabilitación , Admisión del Paciente/estadística & datos numéricos , Inhibidores de Agregación Plaquetaria/uso terapéutico , Estudios Prospectivos , Factores de Riesgo , Encuestas y Cuestionarios , Factores de Tiempo
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