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1.
Rev Neurol ; 78(12): 335-341, 2024 Jun 16.
Artículo en Español | MEDLINE | ID: mdl-38867682

RESUMEN

INTRODUCTION: 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. PATIENTS AND METHODS: 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. RESULTS: 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. CONCLUSIONS: Contrary to traditional opinion, older patients do not have a poorer response or a higher rate of adverse effects after HIFU treatment.


TITLE: Talamotomía unilateral con ultrasonidos focales de alta intensidad en pacientes con temblor esencial refractario: un estudio comparativo entre pacientes menores y mayores de 70 años.Introducción. La talamotomía con ultrasonidos focales de alta intensidad (HIFU) es un tratamiento novedoso para el temblor refractario. El objetivo de este estudio es comparar la reducción en la intensidad del temblor y los efectos adversos del tratamiento entre pacientes menores y mayores de 70 años. Pacientes y métodos. Se incluyó consecutivamente a todos los pacientes con temblor esencial refractario tratados con HIFU entre marzo de 2021 y marzo de 2023. Se analizaron diferentes variables demográficas y clínicas, incluyendo la edad y los apartados de la Clinical Rating Scale for Tremor (CRST). Se cuantificó la patología vascular cerebral mediante la escala de Fazekas. Se compararon los resultados y los efectos adversos entre los grupos de edad de 70 años o menos y de más de 70 años. Resultados. Se incluyó a 90 pacientes, 50 de ellos de más de 70 años. Previamente al tratamiento, la CRST A + B era de 20,4 ± 5,7 en los menores de 70 años y de 23,3 ± 5,1 en los mayores (p = 0,013). A los seis meses tras el tratamiento, la media fue de 3,8 ± 5,1 y 4,8 ± 4,5, respectivamente (p = 0,314). No hallamos diferencias significativas en la CRST C (2,8 ± 4,1 y 3,5 ± 4,8, p = 0,442). Tampoco hubo diferencias significativas entre pacientes con patología vascular (Fazekas = 1) y sin ella (4,6 ± 7,3 y 4,3 ± 4, p = 0,832). No hubo diferencias en la presencia de efectos adversos entre los grupos de edad y de patología vascular. Conclusiones. En contra de lo tradicionalmente concebido, los pacientes de mayor edad no tienen una peor respuesta ni una mayor tasa de efectos adversos tras el tratamiento con HIFU.


Asunto(s)
Temblor Esencial , Tálamo , Humanos , Temblor Esencial/terapia , Temblor Esencial/cirugía , Temblor Esencial/diagnóstico por imagen , Anciano , Masculino , Femenino , Tálamo/diagnóstico por imagen , Tálamo/cirugía , Persona de Mediana Edad , Factores de Edad , Anciano de 80 o más Años , Ultrasonido Enfocado de Alta Intensidad de Ablación/efectos adversos , Ultrasonido Enfocado de Alta Intensidad de Ablación/métodos , Resultado del Tratamiento , Estudios Retrospectivos , Adulto
2.
Neurología (Barc., Ed. impr.) ; 38(5): 350-356, Jun. 2023. tab, graf
Artículo en Español | IBECS | ID: ibc-221502

RESUMEN

Introducción: Las mutaciones en el gen LRRK2 se han relacionado tradicionalmente con unfenotipo benigno de la enfermedad de Parkinson (EP). En la fase avanzada, se ha descrito unarespuesta favorable a la estimulación cerebral profunda (ECP). Métodos: Retrospectivamente, hemos analizado las características clínicas y la evolución de14 pacientes con EP debida a mutaciones en LRRK2 (EP-LRRK2), 13 en G2019S y uno en I1371 V.Nueve de ellos, en fase avanzada, tuvieron una evolución media de 7, 2 a ̃nos hasta alcanzarla.Resultados: Siete pacientes fueron intervenidos de ECP subtalámica bilateral y dos recibierontratamiento con una terapia de infusión. Los pacientes portadores de la mutación G2019S mos-traron una excelente respuesta a la ECP, con una mejoría a los seis meses superior al 80% en laUnified Parkinson’s disease rating scale (UPDRS II y UPDRS III). Esta respuesta se ha mantenidoen el tiempo. El paciente con la mutación I1371 V mostraba un fenotipo grave de la enfermedad y su respuesta a la ECP ha sido moderada. Los pacientes con EP-LRRK2 en fase avanzadamostraron una afectación cognitiva predominantemente frontal con un deterioro significativodel lenguaje. Conclusiones: En nuestros pacientes con EP-LRRK2 hemos observado un fenotipo con una evolución más rápida a la fase avanzada de la enfermedad. Recalcamos la idoneidad de la ECPsubtalámica en estos casos.(AU)


Introduction: LRRK2 mutations have traditionally been associated with a benign phenotype ofParkinson’s disease (PD). Favourable responses to deep brain stimulation (DBS) are reported inthe advanced phase. Methods: We performed a retrospective analysis of the clinical characteristics and progressionof 13 patients with LRRK2-associated PD (13 with G2019S and one with I1371 V). Nine patientswere in the advanced phase, with a mean progression time of 7.2 years before reaching thisphase. Results: Seven patients underwent bilateral subthalamic DBS implantation, and two receivedinfusion treatment. Patients with mutation G2019S responded excellently to DBS, with UnifiedParkinson’s disease rating scale (UPDRS) II and III scores improving by 80% at six months. Thisresponse was sustained over time. The patient with mutation I1371 V had a severe phenotypeof the disease, and presented a moderate response to DBS. Patients with advanced LRRK2-associated PD showed predominantly frontal cognitive involvement, with significant languageimpairment. Conclusions: In these patients, progression was faster in the advanced stage of the disease.We emphasise the suitability of subthalamic DBS in the management of these patients.(AU)


Asunto(s)
Humanos , Masculino , Femenino , Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina , Enfermedad de Parkinson/tratamiento farmacológico , Estimulación Encefálica Profunda , Estudios Retrospectivos , Trastornos del Movimiento , España
3.
Neurologia (Engl Ed) ; 38(5): 350-356, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35644844

RESUMEN

INTRODUCTION: LRRK2 mutations have traditionally been associated with a benign phenotype of Parkinson's disease (PD). Favourable responses to deep brain stimulation (DBS) are reported in the advanced phase. METHODS: We performed a retrospective analysis of the clinical characteristics and progression of 13 patients with LRRK2-associated PD (13 with G2019S and 1 with I1371V). Nine patients were in the advanced phase, with a mean progression time of 7.2 years before reaching this phase. RESULTS: Seven patients underwent bilateral subthalamic DBS implantation, and 2 received infusion treatment. Patients with mutation G2019S responded excellently to DBS, with Unified Parkinson's Disease Rating Scale (UPDRS) II and III scores improving by 80% at 6 months. This response was sustained over time. The patient with mutation I1371V had a severe phenotype of the disease, and presented a moderate response to DBS. Patients with advanced LRRK2-associated PD showed predominantly frontal cognitive involvement, with significant language impairment. CONCLUSIONS: In these patients, progression was faster in the advanced stage of the disease. We emphasise the suitability of subthalamic DBS in the management of these patients.


Asunto(s)
Estimulación Encefálica Profunda , Enfermedad de Parkinson , Humanos , Enfermedad de Parkinson/terapia , Enfermedad de Parkinson/tratamiento farmacológico , Estudios Retrospectivos , Mutación , Fenotipo , Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina/genética
4.
Neurología (Barc., Ed. impr.) ; 36(2): 149-158, mar. 2021. graf, tab
Artículo en Español | IBECS | ID: ibc-202646

RESUMEN

INTRODUCCIÓN: El manejo de la enfermedad de Parkinson en la mujer en edad fértil nos plantea como principal reto el manejo de la enfermedad y los fármacos durante el embarazo y lactancia. El aumento de la edad gestacional de la mujer hace más probable que la incidencia de embarazos pueda incrementarse. OBJETIVO: Definir las características clínicas y los factores que condicionan la vida de la mujer en edad fértil con enfermedad de Parkinson y definir una guía de actuación y manejo del embarazo en estas pacientes. RESULTADOS: Este documento de consenso se ha realizado mediante una búsqueda bibliográfica exhaustiva y discusión de los contenidos realizados por un grupo de expertos en trastornos del movimiento de la Sociedad Española de Neurología. CONCLUSIONES: La enfermedad de Parkinson afecta a todos los aspectos relacionados con la salud sexual y reproductiva de la mujer en edad fértil. Se debe planificar el embarazo en las mujeres con enfermedad de Parkinson para minimizar los riesgos teratogénicos sobre el feto. Se recomienda un abordaje multidisciplinar de estas pacientes para tener en cuenta todos los aspectos implicados


INTRODUCTION: The main challenge of Parkinson's disease in women of childbearing age is managing symptoms and drugs during pregnancy and breastfeeding. The increase in the age at which women are having children makes it likely that these pregnancies will become more common in future. OBJECTIVES: This study aims to define the clinical characteristics of women of childbearing age with Parkinson's disease and the factors affecting their lives, and to establish a series of guidelines for managing pregnancy in these patients. RESULTS: This consensus document was developed through an exhaustive literature search and a discussion of the available evidence by a group of movement disorder experts from the Spanish Society of Neurology. CONCLUSIONS: Parkinson's disease affects all aspects of sexual and reproductive health in women of childbearing age. Pregnancy should be well planned to minimise teratogenic risk. A multidisciplinary approach should be adopted in the management of these patients in order to take all relevant considerations into account


Asunto(s)
Humanos , Femenino , Embarazo , Consenso , Guías de Práctica Clínica como Asunto , Enfermedad de Parkinson/terapia , Trastornos del Movimiento/terapia , Complicaciones del Embarazo/terapia , Enfermedad de Parkinson/fisiopatología , Trastornos del Movimiento/fisiopatología , Complicaciones del Embarazo/fisiopatología , Factores de Riesgo , Antiparkinsonianos/uso terapéutico , Lactancia Materna , España
5.
Neurología (Barc., Ed. impr.) ; 36(2): 159-168, mar. 2021. tab
Artículo en Español | IBECS | ID: ibc-202647

RESUMEN

INTRODUCCIÓN: Muchas enfermedades que cursan con trastornos del movimiento hipercinético comienzan o afectan a mujeres en edad fértil. Es importante conocer los riesgos que tienen las mujeres con estas enfermedades durante el embarazo, así como los posibles efectos de los tratamientos sobre el feto. OBJETIVOS: Definir las características clínicas y los factores que condicionan la vida de la mujer en edad fértil con distonía, corea, síndrome de Tourette, temblor y síndrome de piernas inquietas. Definir una guía de actuación y manejo del embarazo y lactancia en las pacientes con esta enfermedad. DESARROLLO: Este documento de consenso se ha realizado mediante una búsqueda bibliográfica exhaustiva y discusión de los contenidos llevadas a cabo por un Grupo de Expertos en Trastornos del Movimiento de la Sociedad Española de Neurología (SEN). CONCLUSIONES: En todas las mujeres que padecen o comienzan con trastornos del movimiento hipercinéticos se debe valorar el riesgo-beneficio de los tratamientos, reducir al máximo la dosis eficaz o administrarlo de forma puntual en los casos en que sea posible. En aquellas enfermedades de causa hereditaria es importante un consejo genético para las familias. Es importante reconocer los trastornos del movimiento desencadenados durante el embarazo como determinadas coreas y síndrome de piernas inquietas


INTRODUCTION: Many diseases associated with hyperkinetic movement disorders manifest in women of childbearing age. It is important to understand the risks of these diseases during pregnancy, and the potential risks of treatment for the fetus. OBJECTIVES: This study aims to define the clinical characteristics and the factors affecting the lives of women of childbearing age with dystonia, chorea, Tourette syndrome, tremor, and restless legs syndrome, and to establish guidelines for management of pregnancy and breastfeeding in these patients. RESULTS: This consensus document was developed through an exhaustive literature search and a discussion of the content by a group of movement disorder experts from the Spanish Society of Neurology. CONCLUSIONS: We must evaluate the risks and benefits of treatment in all women with hyperkinetic movement disorders, whether pre-existing or with onset during pregnancy, and aim to reduce effective doses as much as possible or to administer drugs only when necessary. In hereditary diseases, families should be offered genetic counselling. It is important to recognise movement disorders triggered during pregnancy, such as certain types of chorea and restless legs syndrome


Asunto(s)
Humanos , Femenino , Embarazo , Consenso , Guías de Práctica Clínica como Asunto , Enfermedad de Parkinson/terapia , Trastornos del Movimiento/terapia , Complicaciones del Embarazo/terapia , Enfermedad de Parkinson/fisiopatología , Trastornos del Movimiento/fisiopatología , Complicaciones del Embarazo/fisiopatología , Factores de Riesgo , Antiparkinsonianos/uso terapéutico , Lactancia Materna , Asesoramiento Genético , Estimulación Encefálica Profunda/métodos , España
6.
Neurologia (Engl Ed) ; 2021 Feb 02.
Artículo en Inglés, Español | MEDLINE | ID: mdl-33541803

RESUMEN

INTRODUCTION: LRRK2 mutations have traditionally been associated with a benign phenotype of Parkinson's disease (PD). Favourable responses to deep brain stimulation (DBS) are reported in the advanced phase. METHODS: We performed a retrospective analysis of the clinical characteristics and progression of 13 patients with LRRK2-associated PD (13 with G2019S and one with I1371 V). Nine patients were in the advanced phase, with a mean progression time of 7.2 years before reaching this phase. RESULTS: Seven patients underwent bilateral subthalamic DBS implantation, and two received infusion treatment. Patients with mutation G2019S responded excellently to DBS, with Unified Parkinson's disease rating scale (UPDRS) II and III scores improving by 80% at six months. This response was sustained over time. The patient with mutation I1371 V had a severe phenotype of the disease, and presented a moderate response to DBS. Patients with advanced LRRK2-associated PD showed predominantly frontal cognitive involvement, with significant language impairment. CONCLUSIONS: In these patients, progression was faster in the advanced stage of the disease. We emphasise the suitability of subthalamic DBS in the management of these patients.

7.
Neurologia (Engl Ed) ; 36(2): 149-158, 2021 Mar.
Artículo en Inglés, Español | MEDLINE | ID: mdl-32718872

RESUMEN

INTRODUCTION: The main challenge of Parkinson's disease in women of childbearing age is managing symptoms and drugs during pregnancy and breastfeeding. The increase in the age at which women are having children makes it likely that these pregnancies will become more common in future. OBJECTIVES: This study aims to define the clinical characteristics of women of childbearing age with Parkinson's disease and the factors affecting their lives, and to establish a series of guidelines for managing pregnancy in these patients. RESULTS: This consensus document was developed through an exhaustive literature search and a discussion of the available evidence by a group of movement disorder experts from the Spanish Society of Neurology. CONCLUSIONS: Parkinson's disease affects all aspects of sexual and reproductive health in women of childbearing age. Pregnancy should be well planned to minimise teratogenic risk. A multidisciplinary approach should be adopted in the management of these patients in order to take all relevant considerations into account.


Asunto(s)
Enfermedad de Parkinson , Adolescente , Adulto , Consenso , Femenino , Humanos , Neurología , Enfermedad de Parkinson/tratamiento farmacológico , Adulto Joven
8.
Neurologia (Engl Ed) ; 36(2): 159-168, 2021 Mar.
Artículo en Inglés, Español | MEDLINE | ID: mdl-32980194

RESUMEN

INTRODUCTION: Many diseases associated with hyperkinetic movement disorders manifest in women of childbearing age. It is important to understand the risks of these diseases during pregnancy, and the potential risks of treatment for the fetus. OBJECTIVES: This study aims to define the clinical characteristics and the factors affecting the lives of women of childbearing age with dystonia, chorea, Tourette syndrome, tremor, and restless legs syndrome, and to establish guidelines for management of pregnancy and breastfeeding in these patients. RESULTS: This consensus document was developed through an exhaustive literature search and a discussion of the content by a group of movement disorder experts from the Spanish Society of Neurology. CONCLUSIONS: We must evaluate the risks and benefits of treatment in all women with hyperkinetic movement disorders, whether pre-existing or with onset during pregnancy, and aim to reduce effective doses as much as possible or to administer drugs only when necessary. In hereditary diseases, families should be offered genetic counselling. It is important to recognise movement disorders triggered during pregnancy, such as certain types of chorea and restless legs syndrome.


Asunto(s)
Trastornos del Movimiento , Enfermedad de Parkinson , Adolescente , Adulto , Corea , Distonía , Femenino , Humanos , Trastornos del Movimiento/tratamiento farmacológico , Enfermedad de Parkinson/tratamiento farmacológico , Síndrome de las Piernas Inquietas/tratamiento farmacológico , Síndrome de Tourette , Adulto Joven
9.
Acta Neurochir (Wien) ; 159(9): 1713-1719, 2017 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-28646465

RESUMEN

BACKGROUND: Over the years, most of the deep brain stimulation (DBS) complications described have been mainly related to the surgery itself or the stimulation. Only a few authors have dealt with chronic complications or complications due to implanted material. METHODS: We retrospectively analyzed complications beyond the 1st month after surgery in 249 patients undergoing DBS at our site for 16 years, with 321 interventions overall. RESULTS: Our results show that infection is the most frequent delayed complication (12.5%), the pulse generator being the most common location. Lead breaks (9.3%) are the second most frequent complication. Symptomatic peri-lead edema and cyst formation were exceptional. CONCLUSIONS: The best knowledge about DBS complications allows for better solutions. In case of infection, conservative treatment or partial removal of the DBS system appears to be safe and reasonable. Intracranial complications related to DBS material such as peri-lead edema and cyst formation have a good prognosis. They may appear long after DBS implantation.


Asunto(s)
Estimulación Encefálica Profunda/efectos adversos , Complicaciones Posoperatorias/etiología , Electrodos Implantados/efectos adversos , Humanos , Complicaciones Posoperatorias/epidemiología
10.
Acta Neurochir (Wien) ; 158(10): 2023-8, 2016 10.
Artículo en Inglés | MEDLINE | ID: mdl-27531176

RESUMEN

BACKGROUND: Myoclonus-dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the SGCE gene. MDS is characterized by mild dystonia and myoclonic jerks, and a constellation of psychiatric manifestations. Deep brain stimulation (DBS) of bilateral internal globus pallidus (GPi) has recently been introduced as a new and beneficial technique to improve motor symptoms in MDS. METHODS: We report three proven genetically MDS cases with successful response to DBS, and their clinical evolution over years. RESULTS: DBS improves significantly the Unified Myoclonus Rating Scale and Burke-Fahn-Marsden Dystonia Rating Scale in all three patients. This improvement is sustained over the years and no major adverse events were recorded. DBS stimulation parameters employed are justified and compared with cases reported throughout the literature. DISCUSSION: DBS of bilateral GPi is an effective and safe therapy to be considered in MDS refractory cases. Careful neuropsychological evaluation is essential inside the presurgery planning. Correct location of the DBS electrodes and individualized selection of stimulation parameters in each case are the main determinants of the best clinical response.


Asunto(s)
Estimulación Encefálica Profunda/métodos , Trastornos Distónicos/terapia , Adulto , Estimulación Encefálica Profunda/efectos adversos , Femenino , Globo Pálido/fisiopatología , Humanos , Masculino , Resultado del Tratamiento
12.
Haemophilia ; 14(4): 816-22, 2008 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-18505462

RESUMEN

Individuals with haemophilia who received non heat-treated factor concentrates were likely to undergo multiple exposures to the hepatitis C virus (HCV). Therefore, HCV mixed-genotype infections might be more frequent in these patients than in the general population. Their prevalence is extremely variable in similar groups of patients tested by different assays due to the fact that currently available genotyping techniques are not suitable to detect multiple HCV genotypes in a viral population. As an HCV viral reservoir, the peripheral blood mononuclear cell (PBMC) might harbor viral variants distinct from the genotypes detected in plasma. We investigated the presence of HCV genotypes in a group of chronically infected haemophilic patients in the PBMC compartment using a non-stimulated cell culture system that allows the detection of the HCV genome in culture supernatants. We compared them to the HCV genotypes found in plasma samples. Cell culture experiments performed with PBMC demonstrated the presence of additional HCV genotypes that were undetected in the corresponding plasma samples with the same genotyping technique. Although mixed infections at HCV genotype level became evident in 5.6% of the patients (16/288), the culture methodology increased the number of HCV infections with multiple genotypes to 62.5% (10/16) (P < 0.0001). Once more, the role of mononuclear cells as HCV viral reservoirs is emphasized. Considering minor strains could influence the outcome of treatment, detection of covert HCV mixed-genotype infections might be essential for choosing the adequate therapeutic regimen.


Asunto(s)
Hemofilia A/complicaciones , Hemofilia B/complicaciones , Hepacivirus/genética , Hepatitis C Crónica/diagnóstico , Adolescente , Adulto , Anciano , Niño , Preescolar , Genotipo , Hepacivirus/clasificación , Hepacivirus/aislamiento & purificación , Anticuerpos contra la Hepatitis C/sangre , Hepatitis C Crónica/complicaciones , Hepatitis C Crónica/transmisión , Hepatitis C Crónica/virología , Humanos , Lactante , Masculino , Persona de Mediana Edad , ARN Viral/sangre , Adulto Joven
13.
Mult Scler ; 13(2): 262-4, 2007 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-17439895

RESUMEN

INTRODUCTION: Multiple sclerosis (MS) is the most common central nervous system disease in young adults, and one of the leading causes of disability in this age group. OBJECTIVES: To establish the prevalence and incidence of MS in Santiago de Compostela (Spain). Material and methods We performed a prospective, case-finding study on > 90,188 inhabitants, from 1 January 1998 to 15 September 2003, selected as day of prevalence. Sources of information were the University Clinical Hospital of Santiago, the hospitals and private clinics of the city, rehabilitators, pediatricians, ophthalmologists, psychiatrists, neurosurgeons, specialists in internal medicine, primary care physicians, association of patients of MS, social services and nongovernmental and religious associations. Informative days were programmed for the susceptible population, and campaigns were carried out in the media. All patients with Poser diagnostic criteria for MS, on the census of Santiago de Compostela as of 15 September 2003, were included in the study. RESULTS: On the day of prevalence, 71 patients with MS were registered on the census of Santiago de Compostela, therefore, the prevalence was 79 cases per 100,000 inhabitants. The incidence of the disease in the study period was 5.3 cases per 100,000 inhabitants and year. CONCLUSIONS: The prevalence and incidence rates of MS found in Santiago de Compostela are the highest reported, to date, in Spain.


Asunto(s)
Esclerosis Múltiple/epidemiología , Adolescente , Adulto , Femenino , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Prevalencia , Estudios Prospectivos , Factores de Riesgo , España/epidemiología
14.
Clin Exp Immunol ; 147(3): 456-64, 2007 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-17302894

RESUMEN

UNLABELLED: We have analysed the phenotype of T lymphocytes in two X-linked lymphoproliferative disease (XLP) patients with the same SH2D1A mutation differing in initial exposure to Epstein-Barr virus (EBV) and treatment. While memory T lymphocytes (with low CCR7 and CD62L expression) prevailed in both XLP patients, in patient 9, who developed acute infectious mononucleosis (AIM) and received B cell ablative treatment, the predominant phenotype was that of late effector CD8 T cells (CD27-, CD28-, CCR7-, CD62L-, CD45 RA+, perforin+), while in patient 4 (who did not suffer AIM) the prevalent phenotype of CD8 T lymphocytes was similar to that of normal controls (N) or to that of adult individuals who recovered from AIM: CD27+ , CD28+, CCR7-, CD62L-, CD45 RO+ and perforin-. CD57 expression (related to senescence) was also higher in CD8 T cells from patient 9 than in patient 4, AIM or N. Persistently high EBV viral load was observed in patient 9. The results obtained from this limited number of XLP patients suggest that events related to the initial EBV encounter (antigen load, treatment, cytokine environment) may have more weight than lack of SH2D1A in determining the long-term differentiation pattern of CD8 memory T cells.


Asunto(s)
Linfocitos T CD8-positivos/inmunología , Enfermedades Genéticas Ligadas al Cromosoma X/inmunología , Trastornos Linfoproliferativos/inmunología , Adulto , Ligando CD27/sangre , Antígenos CD28/sangre , Linfocitos T CD4-Positivos/inmunología , Preescolar , Enfermedades Genéticas Ligadas al Cromosoma X/virología , Herpesvirus Humano 4/aislamiento & purificación , Humanos , Memoria Inmunológica , Inmunofenotipificación , Mononucleosis Infecciosa/complicaciones , Mononucleosis Infecciosa/inmunología , Interferón gamma/biosíntesis , Trastornos Linfoproliferativos/virología , Masculino , Miembro 7 de la Superfamilia de Receptores de Factores de Necrosis Tumoral/sangre , Carga Viral
15.
Haemophilia ; 9(5): 598-604, 2003 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-14511301

RESUMEN

Hepatitis C viraemia, in 38 human immunodeficiency virus positive (HIV+)/hepatitis C virus positive (HCV+) patients, was determined in haemophilic patients during the 4 years since initiation of highly active antiretroviral therapy (HAART). Six of 38 patients had persistently HCV-negative viraemia for more than 2 years. No correlation between HCV-negative viraemia and CD4+ T-cell counts, HIV viral load, age, type or severity of haemophilia could be established. Reduced levels of HIV viral load and the immune reconstitution that follows the initiation of HAART were not enough to explain the disappearance of HCV from plasma. Individuals who cleared plasma HCV had significantly higher CD8+ T-cell counts (P=0.0013) (mean +/- SE: 1153 +/- 117.8 cells microL(-1)) than those with HCV-positive viraemia (819.1 +/- 40.72 cells microL(-1)). Because HCV could maintain a low replication level in peripheral blood mononuclear cells (PBMC), we cultured PBMC of five of six patients with undetectable HCV viraemia. We found four of five HCV RNA-positive cultures. The presence of HCV RNA in our cultures proved that these cells may be an important viral reservoir that could contribute to HCV recurrence in plasma even after long periods of negative viraemia. In summary, our results indicate that in spite of prolonged HCV-negative plasma viraemia, HCV patients that are co-infected with HIV may harbour replication-competent HCV in their PBMC. Therefore, true clearance of HCV infection is difficult to achieve in these patients.


Asunto(s)
Infecciones por VIH/complicaciones , Hemofilia A/complicaciones , Hepacivirus/aislamiento & purificación , Hepatitis C/complicaciones , Leucocitos Mononucleares/virología , Adulto , Terapia Antirretroviral Altamente Activa , Recuento de Linfocito CD4 , Células Cultivadas , Infecciones por VIH/tratamiento farmacológico , Infecciones por VIH/inmunología , Hemofilia B/complicaciones , Hepacivirus/fisiología , Hepatitis C/inmunología , Hepatitis C/virología , Humanos , Masculino , ARN Viral/análisis , Carga Viral , Viremia/complicaciones , Viremia/virología , Latencia del Virus
16.
Curr Med Chem ; 10(4): 303-12, 2003 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-12570703

RESUMEN

Sustained reduction of viral replication can be achieved in HIV infected patients after treatment with combinations of drugs (HAART) that inhibit the viral reverse transcriptase, and protease enzymes. However, replication competent virus can still be recovered from latently infected resting memory CD4+ T-cell lymphocytes. Moreover, "covert" virus replication has been demonstrated in patients who experienced reductions in plasma viremia to levels below the limit of detection of the most sensitive PCR assays. In most studies, preferential attention has been given to latent resting CD4+ T-lymphocytes as a source of HIV persistence. However, insufficient suppression of HIV replication could also lead to viral re-emergence after HAART interruption. In addition to CD4+ T- lymphocytes, other host cells such as long-lived resident macrophages or recently infected blood monocytes could also contribute to maintain persistent HIV replication after HAART. Establishing the origin of re-emerging HIV in patients under HAART upon treatment interruption is important to design optimal treatment schemes. Therapeutic strategies aimed at reducing the number of latently infected cells involve immune activation with IL-2, or other stimulatory factors, in the presence of antiretroviral drugs. Elimination of replication-competent virus would require intensification of HAART, or the use of antiretroviral drugs achieving an effective concentration at the site of HIV replication. In this review the mechanisms of HIV persistence and the methods that can be used to distinguish latent from covert HIV replication in different cell types will be discussed.


Asunto(s)
Terapia Antirretroviral Altamente Activa/métodos , Infecciones por VIH/tratamiento farmacológico , VIH-1/efectos de los fármacos , Replicación Viral/efectos de los fármacos , Animales , Terapia Antirretroviral Altamente Activa/estadística & datos numéricos , Portador Sano/tratamiento farmacológico , Portador Sano/inmunología , Portador Sano/virología , Infecciones por VIH/inmunología , Infecciones por VIH/metabolismo , VIH-1/metabolismo , VIH-1/fisiología , Humanos , Inmunidad Celular/efectos de los fármacos , Latencia del Virus/efectos de los fármacos , Replicación Viral/fisiología
17.
J Hum Virol ; 4(4): 200-13, 2001.
Artículo en Inglés | MEDLINE | ID: mdl-11694848

RESUMEN

OBJECTIVES: To study the factors that determine malignant B cell growth in human immunodeficiency virus type 1 (HIV-1)-infected patients. STUDY DESIGN: B-cell lines (lymphocyte cell lines [LCL]) were developed after nonstimulated culture of peripheral blood mononuclear cells (PBMC) from HIV-1-positive (HIV-1(+)) patients. Human immunodeficiency virus type 1 replication in culture, Epstein-Barr virus (EBV) latent oncogene expression, and cell-to-cell interaction were studied after nonstimulated culture of HIV-1(+) PBMC, analyzing their contribution to LCL appearance. METHODS: Nonstimulated PBMC cultures of HIV-1(+) PBMC and controls (N-PBMC) were established. Lymphocyte cell lines were characterized. Epstein-Barr virus latent membrane protein 1 (LMP-1) and Epstein-Barr nuclear antigen 2 were detected by polymerase chain reaction (PCR). Clonality of LCL was determined by light chain restriction (flow cytometry) and immunoglobulin H chain rearrangement (semi-nested PCR). Peripheral blood mononuclear cell phenotypes were studied at different intervals of culture. RESULTS: Lymphocyte cell lines were obtained in 73% of HIV-1(+) PBMC cultures, compared with 6% in N-PBMC. All LCL were EBV-positive (EBV(+)). B-cell lineage was established, and up to 12 different B-cell clones were expanded from the same individual. Occurrence of LCL was more frequent in cultures with HIV-1 replication, high LMP-1 expression in viable B cells, and high CD4:CD8 ratio. Human immunodeficiency virus type 1 replication persisted in 53% of the LCL. CONCLUSIONS: In vitro HIV-1 replication and persistence of viable EBV(+) lymphoblasts favor spontaneous in vitro outgrowth of LCL in HIV-1(+) patients.


Asunto(s)
Linfocitos B/fisiología , Linfocitos B/virología , Línea Celular Transformada , Infecciones por VIH/virología , VIH-1/fisiología , Herpesvirus Humano 4/fisiología , Leucocitos Mononucleares/virología , Técnicas de Cultivo de Célula/métodos , Línea Celular , Células Cultivadas , Citometría de Flujo , Hemofilia A/complicaciones , Humanos , Leucocitos Mononucleares/fisiología
18.
Rev Neurol ; 32(11): 1049-51, 2001.
Artículo en Español | MEDLINE | ID: mdl-11562827

RESUMEN

INTRODUCTION: In recent years the incidence of spinal epidural abscesses has increased. Early diagnosis is very important, since once neurological deficit has become established this is often permanent. The commonest aetiological agent is Staphylococcus. Pain and fever are often the only symptoms before acute neurological deterioration. CASE REPORT: A 76 year old hypersensitive, diabetic man presented complaining of pain and a sensation of warmth in both arms. He had no fever or other symptoms. Some three weeks before admission to hospital a fish bone had become stuck in his pharynx, causing a purulent lesion there. This was treated with antibiotics. Cervical MR showed a mass at the level of C4 C5, compatible with epidural abscess. Following drainage and antibiotic treatment he recovered, with no sequelas. Staphylococcus was isolated from the purulent fluid. CONCLUSIONS: The possibility of epidural infection must be remembered in patients with fever and nerve root pain. Early diagnosis and suitable treatment, combining both surgery and prolonged treatment with antibiotics, are essential to prevent permanent neurological damage.


Asunto(s)
Absceso Epidural/etiología , Alimentos , Cuerpos Extraños , Faringe/lesiones , Infecciones Estafilocócicas/etiología , Anciano , Vértebras Cervicales , Absceso Epidural/diagnóstico , Humanos , Masculino , Enfermedades de la Columna Vertebral/diagnóstico , Enfermedades de la Columna Vertebral/etiología , Infecciones Estafilocócicas/diagnóstico
19.
Cell Immunol ; 210(1): 11-20, 2001 May 25.
Artículo en Inglés | MEDLINE | ID: mdl-11485348

RESUMEN

Primary cultures of peripheral blood mononuclear cells (PBMC) from 51 HIV+ hemophiliac patients (HIV+ PBMC) were set up, allowing undisturbed cellular interaction in the absence of any exogenous stimuli. The optimum time for p24 detection was between 12 and 25 days. Infective virus was recovered from the culture supernatants (HIV+ SN) and the amount of p24 released ranged from 25 to 5300 pg/ml. Cells of the monocyte/macrophage (M/M) lineage were the main source of HIV in the HIV+ SN, as judged by intracellular staining of permeabilized cells with anti-p24 (KC57 monoclonal antibody) and flow cytometry analysis. M/M activation, differentiation, and proliferation occurred along the culture before the peak of in vitro HIV replication. Release of HIV p24 was highest in patients with >200 CD4+ T lymphocytes/mm3 who did not receive highly active antiretroviral therapy (HAART), but it was still detectable in 60-90% of patients who had responded to 1-2 years of HAART, reducing their plasma viral load to undetectable levels. It is proposed that this simple experimental system can be used to assess ongoing HIV infection of M/M with the patient's own viral variants.


Asunto(s)
Técnicas de Cultivo de Célula/métodos , Infecciones por VIH/virología , VIH/aislamiento & purificación , Monocitos/virología , Terapia Antirretroviral Altamente Activa , Diferenciación Celular , División Celular , Células Cultivadas , Medios de Cultivo Condicionados/química , Femenino , VIH/crecimiento & desarrollo , Proteína p24 del Núcleo del VIH/análisis , Infecciones por VIH/tratamiento farmacológico , Infecciones por VIH/inmunología , Humanos , Antígeno Ki-67/análisis , Cinética , Macrófagos/química , Macrófagos/citología , Macrófagos/virología , Masculino , Monocitos/química , Monocitos/citología , Replicación Viral
20.
Rev. neurol. (Ed. impr.) ; 32(11): 1049-1051, 1 jun., 2001.
Artículo en Es | IBECS | ID: ibc-27132

RESUMEN

Introducción. La incidencia del absceso epidural espinal ha aumentado en los últimos años. El diagnóstico precoz es de gran importancia, ya que una vez establecido el déficit neurológico con frecuencia es irreversible. El agente etiológico más frecuente es el Staphylococcus. El dolor y la fiebre son, con frecuencia, los únicos síntomas antes del deterioro neurológico agudo. Caso clínico. Varón de 76 años, hipertenso y diabético, que consulta por dolor y sensación de calor en ambas extremidades superiores; unos días más tarde presenta dolor intenso a nivel cervical irradiado a ambas extremidades superiores. No presentó fiebre ni otra sintomatología. Aproximadamente tres semanas antes del ingreso se había clavado en la faringe una espina de pescado que le produjo una lesión purulenta a ese nivel y que se trató con antibióticos. La RM cervical demostró una masa a nivel C4-C5 compatible con absceso epidural. Tras cirugía de drenaje y tratamiento antibiótico la evolución clínica fue favorable sin secuelas. En el líquido purulento obtenido se aisló Staphylococcus. Conclusión. Ante un paciente con fiebre y dolor radicular, es necesario tener en cuenta la posibilidad de infección epidural. El diagnóstico temprano y el tratamiento adecuado, combinando cirugía y antibioterapia prolongada, son esenciales para prevenir un déficit neurológico irreversible (AU)


Asunto(s)
Niño , Anciano , Masculino , Humanos , Alimentos , Cuerpos Extraños , Enfermedades de la Columna Vertebral , Infecciones Estafilocócicas , Polisomnografía , Narcolepsia , Metilfenidato , Faringe , Absceso Epidural , Vértebras Cervicales , Estimulantes del Sistema Nervioso Central
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