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1.
Rev Neurol ; 76(12): 377-383, 2023 06 16.
Artigo em Espanhol | MEDLINE | ID: mdl-37303099

RESUMO

INTRODUCTION: The Andalusian Registry of Pregnancies in patients with multiple sclerosis is the largest Spanish registry on multiple sclerosis (MS) and family planning. For the first time, it includes information on the fertility of men with MS. The influence of the use of a disease-modifying treatment (DMT) on the health of the foetus/newborn and the impact of breastfeeding on MS are also analysed. SUBJECTS AND METHODS: This is a multicentre, prospective and observational study. Recruitment of patients took place between December 2018 and December 2020. Women were followed up for one year after delivery. Altogether 100 women and 16 men were included, with a total of 103 newborn infants. RESULTS: The annualised relapse rate of the women with MS decreased significantly during pregnancy (from 0.23 to 0.065). A total of 11.2% of patients resorted to assisted reproductive techniques in order to conceive a child. No association was found between the use of a DMT at conception and/or pregnancy and the risk of miscarriage, prematurity or low birth weight. Over half the women with MS (54.2%) chose to breastfeed (26.7% of them while on a DMT). CONCLUSIONS: MS does not affect the fertility of men. Neither does the use of a DMT at the time of conception affect their fertility or their children's health. Assisted reproductive techniques did not have a negative impact on the course of MS. Breastfeeding is a common practice among women with MS and there is no evidence of positive or negative effects on disease progression.


TITLE: Planificación familiar en hombres y mujeres con esclerosis múltiple. Análisis del Registro Andaluz (2018-2022).Introducción. El Registro Andaluz de Embarazos en pacientes con esclerosis múltiple (EM) es el mayor registro español sobre EM y planificación familiar. Por primera vez se incluye información sobre la fertilidad de hombres con EM. También se analizan la influencia del uso de un tratamiento modificador de la enfermedad (TME) en la salud del feto o recién nacido y el impacto de la lactancia materna en la EM. Sujetos y métodos. Es un estudio observacional, prospectivo y multicéntrico. El reclutamiento de pacientes se hizo entre diciembre de 2018 y diciembre de 2020. El seguimiento de las mujeres tras el parto fue de un año. Se incluyó a 100 mujeres y 16 hombres, con un total de 103 recién nacidos. Resultados. La tasa anualizada de brotes de las mujeres con EM descendió durante el embarazo de forma significativa (de 0,23 a 0,065). Un 11,2% de los pacientes recurrieron a técnicas de reproducción asistida para conseguir la gestación. No se encontró relación entre el uso de un TME en la concepción y/o embarazo y el riesgo de aborto, prematuridad o bajo peso al nacer. El 54,2% de las mujeres con EM optaron por dar lactancia (el 26,7% de ellas usando un TME). Conclusiones. La EM no afecta a la fertilidad de los hombres. Tampoco influye en ésta, ni en la salud de sus hijos, el uso de un TME en el momento de la concepción. Las técnicas de reproducción asistida no impactaron negativamente en la evolución de la EM. La lactancia se impone como una práctica habitual entre las mujeres con EM y no se evidencian efectos positivos o negativos sobre la evolución de la enfermedad.


Assuntos
Serviços de Planejamento Familiar , Esclerose Múltipla , Criança , Lactente , Masculino , Recém-Nascido , Gravidez , Humanos , Feminino , Estudos Prospectivos , Sistema de Registros , Aleitamento Materno
2.
Eur J Neurol ; 15(10): 1080-4, 2008 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-18717723

RESUMO

AIMS: Previous studies have reported the presence of low-grade inflammation in Alzheimer disease (AD). Based on these data, our work attempts to investigate the effects of some promoter polymorphisms of pro-inflammatory cytokines [interleukin (IL)-1 alpha and IL-1 beta] on AD. PATIENTS AND METHODS: A PCR-RFLP technique was used to analyze the promoter polymorphisms of both IL-1 alpha (-889 C/T) and IL-1 beta (-511 C/T) and the APOE genotype from the DNA samples of 282 patients (according to NINCDS-ADRDA criteria) and 312 control subjects. RESULTS: (i) The risk of developing AD in our population was associated with the IL-1 beta (-511 C/T) promoter polymorphism; (ii) such risk was independent of the risk factor allele in the APOE gene (APOE4); and (iii) the IL-1 alpha promoter polymorphism (-889 C/T) was not associated with the disease. CONCLUSION: In our population, IL-1 beta promoter polymorphism (-511 C/T) is an independent risk factor for AD.


Assuntos
Doença de Alzheimer/genética , Interleucina-1alfa/genética , Interleucina-1beta/genética , Polimorfismo Genético , Regiões Promotoras Genéticas/genética , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/epidemiologia , Apolipoproteínas E/genética , Estudos de Casos e Controles , Análise Mutacional de DNA , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Espanha/epidemiologia
3.
O.F.I.L ; 32(3): 291-293, julio 2022. tab
Artigo em Espanhol | IBECS (Espanha) | ID: ibc-208785

RESUMO

Objective: To evaluate the efficacy and safety of a treatment for multiple sclerosis (MS) flares alternative to the conventional method, the intravenous route.Method: Observational and retrospective, during the months of July-Novembre 2020, coinciding with the period of mobility limitation in Spain due to SARS-CoV-2. The sample included 7 patients. The variables were: sex, age, type of MS, result on the expanded disability scale (EDSS), treatment, symptoms and evolution. The programs used were: patient history, outpatient dispensing and magnetic resonance imaging (MRI).Results: The results of 7 patients with a mean age of 44.85±13 years were measured. All with a diagnosis of relapsing remitting MS. The mean EDSS score was 3. The main symptoms referred to were: paresthesia, muscle weakness and urinary incontinence. 85% of the patients evolved favorably. Another aspect that stands out is the comfort of the patient from home instead of going to the hospital. Discussion and conclusion: Oral administration of 1,400 mg prednisone for 5 days is a safe, effective and comfortable alternative as a treatment for acute outbreaks in multiple sclerosis. The objective was to evaluate the efficacy and safety of an alternative treatment for MS flares to the conventional method, the intravenous route. (AU)


Objetivo: Evaluar la eficacia y seguridad de un tratamiento para los brotes por esclerosis múltiple (EM) alternativo al método convencional, la vía intravenosa. Método: Estudio retrospectivo y observacional durante los meses julio-noviembre 2020, coincidiendo con el período de limitación de movilidad en España por SARS-CoV-2. La muestra incluyó a 7 pacientes. Las variables fueron: sexo, edad, tipo de EM, resultado en escala expandida de discapacidad (EDSS), tratamiento, sintomatología y evolución. Los programas utilizados fueron: historia clínica del paciente, dispensación de pacientes externos y visualización resonancias magnéticas (RNM).Resultados: Se midieron los resultados de 7 pacientes con una edad media 44,85±13 años. Todos con diagnóstico EM remitente recurrente. La puntuación media de la EDSS fue 3. Los principales síntomas referidos fueron: parestesias, debilidad muscular e incontinencia urinaria. El 85% de los pacientes evolucionaron de forma favorable. Otro aspecto, es la comodidad del paciente desde su domicilio en lugar de acudir al centro hospitalario. Discusión y conclusión: La administración de 1.400 mg de prednisona oral durante 5 días, es una alternativa segura, eficaz y cómoda como tratamiento de los brotes agudos en la esclerosis múltiple. El abordaje multidisciplinar mejora la sobrecarga asistencial que sufre el sistema sanitario durante la pandemia evitando desplazamientos a urgencias hospitalarias. (AU)


Assuntos
Humanos , Corticosteroides , Esclerose Múltipla , Coronavírus Relacionado à Síndrome Respiratória Aguda Grave , Pacientes , Estudos Retrospectivos , Espanha
4.
Semergen ; 42(5): 287-92, 2016.
Artigo em Espanhol | MEDLINE | ID: mdl-26272881

RESUMO

OBJECTIVE: To calculate the time in therapeutic range (TTR), as well as the scores on the CHADS2 scale in anticoagulated patients with non-valvular atrial fibrillation, attending the Primary Care Health Centre of Aravaca. LOCATION: Basic health area of Aravaca (Madrid). DESIGN: Retrospective observational study. PARTICIPANTS: The Community of Madrid provides a list of patients with non-valvular atrial fibrillation and on anticoagulant therapy in the centre. Excluding those with less than 8 INRs, who began treatment after January 2011, interrupted by inter-current treatment or had cancer or coagulopathy. The study period is from 1 January 2012 to 1 January 2013. MAIN MEASUREMENTS: The TTR (fraction of INRs in range) was the primary endpoint. The score was also calculated on the CHADS2 scale. RESULTS: A value of 56.28% TTR (59.5-53.1) was obtained from a sample of 963 INRs. Just over half (52%) of patients had a TTR<60%. There were 65 patients with a mean age of 80±7.5 years. The distribution of risk factors for the CHADS2 scale was: Heart failure 18.5%; hypertension 80%; diabetes 29.2%, and embolic events 18.5%. CONCLUSION: The results of our sample TTR is suboptimal (<60%), which implies an increased risk for embolic episodes and increased likelihood of bleeding. We need to incorporate into our clinical practice an objective measure of the quality of anticoagulation in order to identify poorly controlled patients and introduce corrective measures.


Assuntos
Anticoagulantes/uso terapêutico , Fibrilação Atrial/tratamento farmacológico , Coeficiente Internacional Normatizado , Atenção Primária à Saúde/normas , Controle de Qualidade , Indicadores de Qualidade em Assistência à Saúde , Adulto , Idoso , Idoso de 80 Anos ou mais , Monitoramento de Medicamentos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Espanha , Resultado do Tratamento
5.
Rev Neurol ; 32(12): 1107-11, 2001.
Artigo em Espanhol | MEDLINE | ID: mdl-11562837

RESUMO

INTRODUCTION: Multiple symmetrical lipomatosis (LSM) is characterized by the development of symmetrical lipomas and is often associated with axonal polyneuropathy (PNP). Presentation is usually sporadic. Familial cases have been reported infrequently, with variable modes of inheritance. The pathogenesis is unknown. It has been related to mitochondrial cytopathy and alterations in lipid metabolism. OBJECTIVES: To establish clinico pathological correlation in our cases of familial presentation. Patients and methods. We report seven patients, from three families, teetotalers with LSM. Clinical assessment included lipidogram, neurophysiological study of nerve and muscle, sural nerve biopsy in two of them and muscle biopsy in one member of each family for morphological assessment, respiratory chain biochemistry and study of molecular genetics. RESULTS: LSM was associated with axonal PNP and hyperlipidemia in the seven members of the three families, with an apparent pattern of autosomal recessive inheritance. No conclusive data of mitochondrial cytopathy, in the form of significant morphological changes, biochemistry of the mitochondrial respiratory chain or micochondrial DNA were found. CONCLUSION: Although mitochondrial cytopathy has been described as part of the syndromes in which LSM occurs, there may be other undefined aspects, such as disorders of lipid metabolism which form part of the pathogenesis.


Assuntos
Lipomatose Simétrica Múltipla/genética , Polineuropatias/genética , Idoso , Axônios/patologia , Biópsia , DNA/genética , Análise Mutacional de DNA , DNA Mitocondrial/genética , Transporte de Elétrons/fisiologia , Feminino , Heterogeneidade Genética , Humanos , Hiperlipidemias/sangue , Hiperlipidemias/complicações , Hiperlipidemias/genética , Lipídeos/sangue , Lipomatose Simétrica Múltipla/sangue , Lipomatose Simétrica Múltipla/complicações , Masculino , Pessoa de Meia-Idade , Mitocôndrias/enzimologia , Mitocôndrias/fisiologia , Músculo Esquelético/patologia , Condução Nervosa , Linhagem , Polineuropatias/sangue , Polineuropatias/complicações , RNA de Transferência de Leucina/genética , RNA de Transferência de Lisina/genética , Nervo Sural/patologia , Temperança
6.
Rev Neurol ; 36(6): 526-9, 2003.
Artigo em Espanhol | MEDLINE | ID: mdl-12652414

RESUMO

INTRODUCTION: Increased intracranial pressure (ICP) due to complete middle cerebral artery territory infarction does not respond to medical treatment and is often followed by transtentorial herniation and death. Some authors have reported good outcome after performing decompressive hemicraniectomy in this condition. The potential clinical benefit of intracranial pressure reduction by means of an external ventriculostomy in such cases is unknown. CASE REPORT: The present paper discusses the case of a 33 year old female who suffered a massive infarction of the territory of the right middle cerebral artery with transtentorial herniation and left lateral ventricular dilation who rapidly improved after performing external ventriculostomy without hemicraniectomy. The brain tissue partial oxygen pressure (PtiO2) was monitored in the left frontal lobe and a fair correlation with clinical events was found. CONCLUSIONS: External ventricular drainage without hemicraniectomy could be lifesaving in some case of massive ( malignant ) hemispheric infarction and more studies on this therapeutic approach would be needed. Monitoring PtiO2 in these patients would be useful in adopting therapeutic decisions.


Assuntos
Descompressão Cirúrgica , Drenagem , Infarto da Artéria Cerebral Média/cirurgia , Ventrículos Laterais/cirurgia , Adulto , Feminino , Humanos , Infarto da Artéria Cerebral Média/patologia , Pressão Intracraniana , Oxigênio/metabolismo , Tomografia Computadorizada por Raios X
7.
Rev Neurol ; 35(8): 705-10, 2002.
Artigo em Espanhol | MEDLINE | ID: mdl-12402219

RESUMO

AIMS: The objective of this study is to analyse the incidence and clinical characteristics of Guillain Barre syndrome (GBS) in the Canary Islands. PATIENTS AND METHODS: We conducted a retrospective study of GBS patients (according to diagnostic criteria from the National Institute of Neurological and Communicative Disorders and Stroke) treated in the Ntra. Sra. del Pino Hospital in Gran Canaria between 1983 and 1998. Annual incidence, seasonal distribution, preceding infection, clinical and electrophysiological data, and evolution were all evaluated. Prognostic factors were studied by means of a univariate analysis. RESULTS: A total of 81 patients were selected for the study. The raw incidence was 1.04/100,000 inhab./year (CI 95%: 0.83 1.29; adjusted for age to the European population: 1.5). The rates of incidence were higher in men and increased lineally with age in both sexes. We observed an upward tendency during the winter months. 48% of the patients displayed serious motor deficits in the nadir of the disease, and 17.8% required assisted ventilation. After one year s evolution 74% were seen to experience an excellent recovery. The mortality rate was 8.2% and 37% received immunomodulatory treatment. The main variables associated with a bad prognosis at 3 and 12 months were: serious deficits in muscular balance, the need for assisted ventilation and very reduced amplitude of evoked motor potential. CONCLUSIONS: GBS incidence in the Canary Islands is similar to that found in other countries. An increase with age and an upward tendency during the winter months was observed. No differences were found in the clinical data as compared with other series.


Assuntos
Síndrome de Guillain-Barré/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Anticorpos Antivirais/sangue , Ilhas Atlânticas/epidemiologia , Criança , Pré-Escolar , Feminino , Síndrome de Guillain-Barré/complicações , Síndrome de Guillain-Barré/metabolismo , Humanos , Incidência , Lactente , Masculino , Pessoa de Meia-Idade , Paralisia/etiologia , Complicações Pós-Operatórias/epidemiologia , Gravidez , Complicações na Gravidez/epidemiologia , Prognóstico , Respiração Artificial , Paralisia Respiratória/etiologia , Paralisia Respiratória/terapia , Estudos Retrospectivos , Estações do Ano , Índice de Gravidade de Doença , Viroses/complicações
8.
Rev Neurol ; 39(10): 911-4, 2004.
Artigo em Espanhol | MEDLINE | ID: mdl-15573304

RESUMO

INTRODUCTION: Multiple sclerosis (MS) is an autoimmune disease that occurs in genetically predisposed individuals. Its inheritance is polygenic. Genetic epidemiology studies have shown an increased familial aggregation. AIM. To determine the prevalence of familial MS (fMS) in a series of patients from the Canary Islands. PATIENTS AND METHODS: From a cohort of 266 patients with defined MS, during a 6-year period, we investigated prospectively by personal interviews the presence of MS on first and second degree relatives. We analysed as well the presence of HLA DRB1 in affected families, and also clinical and demographic characteristics in fMS and compared them with sporadic MS (sMS). RESULTS: fMS prevalence was 13.9% (27 non-related families with 50 affected individuals). The HLA DRB01*1501 allele were present in 51,8% of familial cases. We could not found either intrafamilial concordance in clinically affected regions and age of onset or clinical evolution. We have not found any phenotypic differences between familial and sMS. CONCLUSIONS: The prevalence of fMS in our series is comparable to that in other Mediterranean populations. Our results do not support that fMS was a different clinical entity of sMS and intrafamilial concordance in its clinical expression.


Assuntos
Antígenos HLA-DR/genética , Esclerose Múltipla/epidemiologia , Esclerose Múltipla/genética , Adolescente , Adulto , Ilhas Atlânticas/epidemiologia , Criança , Estudos de Coortes , Feminino , Cadeias HLA-DRB1 , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/classificação , Esclerose Múltipla/diagnóstico
9.
Rev Neurol ; 38(7): 615-8, 2004.
Artigo em Espanhol | MEDLINE | ID: mdl-15098180

RESUMO

OBJECTIVES: Apolipoprotein E (ApoE) gen has been found to confer risk for Alzheimer disease in every population studied. We are interested in analyzed the exonic variants and the promoter polymorphisms in our Canary population. SUBJECTS AND METHODS: By means of PCR RFLP analysis of DNA from patients (NINCS ADRDA criteria) and controls (cognitive state CAMCOG test measured) we analyzed the known exonic and promoter polymorphism of ApoE gen. RESULTS: We have found an association of Alzheimer disease risk based on exonic variants of ApoE gen, with a clear cut dose effect on susceptibility and no risk conferred by the promoter polymorphisms. Age at onset are not affected by variants of ApoE gen, and patients gender strongly modulate the disease susceptibility. CONCLUSION: We have found in our Canary population an association between Alzheimer disease with exonic variants of ApoE gen with a strong modulation by the patients gender.


Assuntos
Doença de Alzheimer/epidemiologia , Apolipoproteínas E/genética , Fatores Sexuais , Idade de Início , Idoso , Alelos , Doença de Alzheimer/genética , Apolipoproteína E4 , Ilhas Atlânticas/epidemiologia , Éxons/genética , Feminino , Dosagem de Genes , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Regiões Promotoras Genéticas/genética , Isoformas de Proteínas/genética , Risco , Espanha/epidemiologia
10.
SEMERGEN, Soc. Esp. Med. Rural Gen. (Ed. Impr.) ; 42(5): 287-292, jul.-ago. 2016. tab
Artigo em Espanhol | IBECS (Espanha) | ID: ibc-154507

RESUMO

Objetivo. Calcular el tiempo en rango terapéutico (TRT) de los pacientes con fibrilación auricular no valvular anticoagulados del Centro de Salud de Aravaca, y la puntuación en la escala CHADS2. Emplazamiento. Zona básica de salud de Aravaca (Madrid). Diseño. Estudio retrospectivo observacional. Participantes. La Comunidad de Madrid facilita un listado de los pacientes con fibrilación auricular no valvular y tratamiento anticoagulante del centro. Se excluyen aquellos con menos de 8 INR, los que comenzaron el tratamiento después de enero 2011, interrumpieron el tratamiento por procesos intercurrentes o presentaban cáncer o coagulopatías. El periodo de estudio es del 1-01-2012 al 1-01-2013. Mediciones principales. El TRT (fracción de INR en rango) fue la variable principal. También se calculó la puntuación en la escala CHADS2. Resultados. Obtuvimos un valor de TRT de 56,28% (59,5-53,1) de una muestra de 963 INR. El 52% de los pacientes tenían un TRT<60%. Los pacientes fueron 65, con una media de edad de 80±7,5 años. La distribución de los factores de riesgo de la escala CHADS2 fue: insuficiencia cardíaca 18,5%; hipertensión arterial 80%; diabetes 29,2%, y episodios embólicos 18,5%. Conclusión. El resultado del TRT de nuestra muestra es subóptimo (<60%), lo que implica un mayor riesgo de episodios cardioembólicos y un aumento de la probabilidad de sangrado. Creemos necesario incorporar a nuestra práctica clínica una medida objetiva de la calidad de la anticoagulación que identifique los pacientes mal controlados para introducir medidas correctoras (AU)


Objective. To calculate the time in therapeutic range (TTR), as well as the scores on the CHADS2 scale in anticoagulated patients with non-valvular atrial fibrillation, attending the Primary Care Health Centre of Aravaca. Location. Basic health area of Aravaca (Madrid). Design. Retrospective observational study. Participants. The Community of Madrid provides a list of patients with non-valvular atrial fibrillation and on anticoagulant therapy in the centre. Excluding those with less than 8 INRs, who began treatment after January 2011, interrupted by inter-current treatment or had cancer or coagulopathy. The study period is from 1 January 2012 to 1 January 2013. Main measurements. The TTR (fraction of INRs in range) was the primary endpoint. The score was also calculated on the CHADS2 scale. Results. A value of 56.28% TTR (59.5-53.1) was obtained from a sample of 963 INRs. Just over half (52%) of patients had a TTR<60%. There were 65 patients with a mean age of 80±7.5 years. The distribution of risk factors for the CHADS2 scale was: Heart failure 18.5%; hypertension 80%; diabetes 29.2%, and embolic events 18.5%. Conclusion. The results of our sample TTR is suboptimal (<60%), which implies an increased risk for embolic episodes and increased likelihood of bleeding. We need to incorporate into our clinical practice an objective measure of the quality of anticoagulation in order to identify poorly controlled patients and introduce corrective measures (AU)


Assuntos
Humanos , Masculino , Feminino , Controle de Qualidade , Fibrilação Atrial/epidemiologia , Fibrilação Atrial/prevenção & controle , Anticoagulantes/uso terapêutico , Atenção Primária à Saúde/métodos , Fatores de Risco , Fibrilação Atrial/diagnóstico , Fibrilação Atrial/terapia , Medicina de Família e Comunidade/métodos , Estudos Retrospectivos , Insuficiência Cardíaca/complicações , Estudos Transversais/métodos
11.
Neurologia ; 13(6): 299-303, 1998.
Artigo em Espanhol | MEDLINE | ID: mdl-9734204

RESUMO

Dissection of internal carotid artery is an unusual cause of stroke. It generally affects the extracranial portion of the vessel, rarely the intra-cranial portion and exceptionally both sections simultaneously. We present two cases of spontaneous dissection with extra and intra-cranial involvement. Two females, 46 and 36 years old, presented as stroke of the right internal carotid (ICA) associated with headaches and ipsilateral Horner's syndrome. An echo-Doppler was done on the first patient, which turned to be normal, and carotid angiography was done to both patients. The first patient showed a filiform stenosis of the right ICA that ran from the origin to the carotid siphon. The second patient showed a longitudinal stenosis of the right ICA 2 cm from the origin, which ended in an obstruction of the terminal branches. The control angiographs at five and six months respectively, showed partial re-channelling or complete re-channelling. The first case was treated with anti-aggregants and the second with anticoagulants. There were no new episodes in either cases. Dissection of the ICA usually only affects the extracranial portion of the artery, stopping in the petrous portion. We do not know why dissection also affected the intra-cranial section of the artery in these two cases.


Assuntos
Dissecção Aórtica/complicações , Doenças das Artérias Carótidas/complicações , Transtornos Cerebrovasculares/etiologia , Adulto , Dissecção Aórtica/diagnóstico por imagem , Doenças das Artérias Carótidas/diagnóstico por imagem , Artéria Carótida Externa , Artéria Carótida Interna , Feminino , Humanos , Pessoa de Meia-Idade , Radiografia
12.
Rev. neurol. (Ed. impr.) ; Rev. neurol. (Ed. impr.);32(12): 1107-1111, 16 jun., 2001.
Artigo em Es | IBECS (Espanha) | ID: ibc-27143

RESUMO

Introducción. La lipomatosis simétrica múltiple (LSM) se caracteriza por el desarrollo de lipomas simétricos y se asocia con frecuencia a una polineuropatía (PNP) axonal. Su forma de presentación es preferentemente esporádica. Los casos familiares se han descrito escasamente, con un modo de herencia variable. Su patogenia es desconocida. Se ha relacionado con una citopatía mitocondrial y con alteraciones del metabolismo lipídico. Objetivos. Establecer una correlación clinicopatológica en nuestros casos de presentación familiar. Pacientes y métodos. Presentamos siete pacientes, correspondientes a tres familias, no consumidores de alcohol, afectados de LSM. Se les realiza una evaluación clínica que incluye lipidograma, estudio neurofisiológico de nervio y músculo, biopsia de nervio sural, en dos de ellos, y biopsia muscular, en un miembro de cada familia, para valoración morfológica, bioquímica de cadena respiratoria y estudio de genética molecular. Resultados. La LSM se asocia con una PNP axonal e hiperlipidemia en los siete miembros de las tres familias, con patrón aparente de herencia autosómica recesiva. No se han encontrado datos concluyentes de citopatía mitocondrial, en forma de alteraciones significativas morfológicas, bioquímicas de la cadena respiratoria mitocondrial, ni del ADN mitocondrial. Conclusión. Aunque la citopatía mitocondrial se describe como parte de los síndromes que cursan con LSM, pueden existir otros aspectos no definidos, como el trastorno del metabolismo de los lípidos, que contribuyan a su patogenia (AU)


Assuntos
Pessoa de Meia-Idade , Idoso , Masculino , Feminino , Humanos , RNA de Transferência de Lisina , RNA de Transferência de Leucina , Temperança , Nervo Sural , Músculo Esquelético , Heterogeneidade Genética , Mitocôndrias , Condução Nervosa , Linhagem , Polineuropatias , Biópsia , Axônios , DNA , DNA Mitocondrial , Análise Mutacional de DNA , Lipídeos , Lipomatose Simétrica Múltipla , Transporte de Elétrons , Hiperlipidemias
13.
Rev. neurol. (Ed. impr.) ; Rev. neurol. (Ed. impr.);36(6): 526-529, 16 mar., 2003. ilus
Artigo em Es | IBECS (Espanha) | ID: ibc-20033

RESUMO

Introducción. La hipertensión intracraneal grave debida al infarto de todo el territorio de la arteria cerebral media responde mal al tratamiento médico y, a menudo, le sigue una herniación transtentorial y la muerte. Recientemente se han publicado buenos resultados tras la práctica de una hemicraniectomía descompresiva en estos casos. Caso clínico. Comunicamos una paciente de 33 años que sufrió un infarto masivo de la arteria cerebral media derecha, con herniación transtentorial y dilatación del ventrículo lateral izquierdo, que respondió bien a la realización de una ventriculostomía externa sin hemicraniectomía. Se monitorizó la presión parcial cerebral de oxígeno (PtiO2) en el lóbulo frontal izquierdo y se observó una estrecha relación con los eventos clínicos. Conclusiones. El drenaje ventricular externo sin craniectomía fue, aparentemente, una medida terapéutica útil en nuestra paciente con un infarto `maligno' hemisférico. Son necesarios más estudios en este sentido. La monitorización de la PtiO2 en estos casos ayudaría a valorar y optimizar las decisiones terapéuticas (AU)


Introduction. Increased intracranial pressure (ICP) due to complete middle cerebral artery territory infarction does not respond to medical treatment and is often followed by transtentorial herniation and death. Some authors have reported good outcome after performing decompressive hemicraniectomy in this condition. The potential clinical benefit of intracranial pressure reduction by means of an external ventriculostomy in such cases is unknown. Case report. The present paper discusses the case of a 33-year-old female who suffered a massive infarction of the territory of the right middle cerebral artery with transtentorial herniation and left lateral ventricular dilation who rapidly improved after performing external ventriculostomy without hemicraniectomy. The brain tissue partial oxygen pressure (PtiO2) was monitored in the left frontal lobe and a fair correlation with clinical events was found. Conclusions. External ventricular drainage without hemicraniectomy could be lifesaving in some case of massive (‘malignant’) hemispheric infarction and more studies on this therapeutic approach would be needed. Monitoring PtiO2 in these patients would be useful in adopting therapeutic decisions (AU)


Assuntos
Adulto , Feminino , Humanos , Descompressão Cirúrgica , Drenagem , Tomografia Computadorizada por Raios X , Oxigênio , Infarto da Artéria Cerebral Média , Ventrículos Laterais , Pressão Intracraniana
14.
Rev. neurol. (Ed. impr.) ; Rev. neurol. (Ed. impr.);35(8): 705-710, 16 oct., 2002.
Artigo em Es | IBECS (Espanha) | ID: ibc-22377

RESUMO

Objetivo. Analizar la incidencia y características clínicas del síndrome de Guillain-Barré (SGB) en Canarias. Pacientes y métodos. Estudio retrospectivo de pacientes con SGB (criterios diagnósticos del National Institute of Neurological and Communicative Disorders and Stroke) atendidos en el H. Ntra. Sra. del Pino de Gran Canaria, entre 1983 y 1998. Se evaluaron la incidencia anual, distribución estacional, infección precedente, los datos clínicos y electrofisiológicos y la evolución. Se investigaron factores pronósticos mediante un análisis univariante. Resultados. Se seleccionaron 81 pacientes. La incidencia cruda fue 1,04/100.000 hab/año (IC 95 por ciento: 0,83-1,29) (ajustada por edad a la población europea: 1,5). Las tasas de incidencia fueron más altas en el hombre y aumentaban linealmente con la edad en ambos sexos. Observamos predilección por los meses de invierno. El 48 por ciento de los pacientes alcanzaron déficit motores graves en el nadir de la enfermedad, y un 17,8 por ciento precisó ventilación asistida. Al año de evolución, el 74 por ciento tuvo una excelente recuperación. La mortalidad fue del 8,2 por ciento. El 37 por ciento recibió tratamiento inmunomodulador. Las principales variables asociadas a mal pronóstico a los tres y 12 meses fueron: déficit graves en el balance muscular, necesidad de ventilación asistida y una amplitud muy reducida de potencial motor evocado. Conclusiones. La incidencia del SGB en Canarias es similar a la que se encontró en otros países. Observamos un aumento de la incidencia con la edad y predilección por los meses de invierno. No encontramos diferencias en los datos clínicos con otras series (AU)


Assuntos
Pessoa de Meia-Idade , Gravidez , Pré-Escolar , Criança , Adolescente , Adulto , Idoso de 80 Anos ou mais , Idoso , Masculino , Lactente , Feminino , Humanos , Espanha , Estações do Ano , Viroses , Incidência , Meningite por Listeria , Paralisia , Complicações Pós-Operatórias , Respiração Artificial , Estudos Retrospectivos , Prognóstico , Proteínas , Paralisia Respiratória , Complicações na Gravidez , Síndrome de Guillain-Barré , Anticorpos Antivirais , Ilhas Atlânticas , Diagnóstico Diferencial , Glucose , Índice de Gravidade de Doença
15.
Rev. neurol. (Ed. impr.) ; Rev. neurol. (Ed. impr.);38(7): 615-618, 1 abr., 2004. tab
Artigo em Es | IBECS (Espanha) | ID: ibc-31458

RESUMO

Objetivos. En la mayoría de las poblaciones estudiadas se ha encontrado que el gen de la apolipoproteína E (ApoE) es un factor de riesgo para la enfermedad de Alzheimer (EA). El objetivo del presente trabajo es el estudio de los polimorfismos de dicho gen, tanto de las variantes exónicas como los polimorfismos de promotor, en nuestra población canaria. Sujetos y métodos. Hemos analizado, por medio de técnicas de PCR-RFLP, tanto las variantes exónicas como tres de los polimorfismos de promotor más comunes del gen de la ApoE, sobre el ADN de 131 pacientes diagnosticados clínicamente de probable EA, según criterios NINCS-ADRDA, y 85 controles sin déficit cognitivo medido por el test de CAMCOG. Resultados. Hemos encontrado que las variantes alélicas exónicas del gen de la ApoE se relacionan fuertemente con la EA, presentan un claro efecto de dosis sobre la susceptibilidad a la enfermedad, mientras que no muestran ninguna asociación con la enfermedad las variantes de promotor. En nuestra muestra analizada, el gen de la ApoE no parece influir en la edad de presentación de la enfermedad, mientras que el sexo de los pacientes confiere características de susceptibilidad distintivas. Conclusión. En nuestra población, el gen de la ApoE se relaciona con la EA, y está condicionado por una fuerte modulación del sexo de los pacientes (AU)


Objectives. Apolipoprotein E (ApoE) gen has been found to confer risk for Alzheimer disease in every population studied. We are interested in analyzed the exonic variants and the promoter polymorphisms in our Canary population. Subjects and methods. By means of PCR-RFLP analysis of DNA from patients (NINCS-ADRDA criteria) and controls (cognitive state CAMCOG test measured) we analyzed the known exonic and promoter polymorphism of ApoE gen. Results. We have found an association of Alzheimer disease risk based on exonic variants of ApoE gen, with a clear cut dose-effect on susceptibility and no risk conferred by the promoter polymorphisms. Age at onset are not affected by variants of ApoE gen, and patients gender strongly modulate the disease susceptibility. Conclusion. We have found in our Canary population an association between Alzheimer disease with exonic variants of ApoE gen with a strong modulation by the patients gender (AU)


Assuntos
Masculino , Humanos , Feminino , Idoso , Fatores Sexuais , Fatores Sexuais , Frequência do Gene , Apolipoproteínas E , Isoformas de Proteínas , Espanha , Risco , Regiões Promotoras Genéticas , Doença de Alzheimer , Predisposição Genética para Doença , Ilhas Atlânticas , Dosagem de Genes , Éxons , Alelos , Idade de Início , Genótipo , Frequência do Gene
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