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1.
J Neurol ; 266(10): 2396-2405, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31190169

RESUMO

OBJECTIVE: To describe the clinical, biochemical, and neuropathological findings of an autosomal dominant globular glial tauopathy caused by the P301T mutation at the MAPT gene. METHODS: Five patients from two unrelated pedigrees underwent clinical evaluation. Genetic analysis, brain pathological examination, and biochemical analysis of tau were performed. RESULTS: The patients studied were 3 men and 2 women with a mean age at onset of 52.2 years and mean disease duration of 5.2 years. Three patients presented a corticobasal syndrome, one patient an asymmetric pyramidal syndrome compatible with primary lateral sclerosis, and one patient a frontotemporal dementia. In both pedigrees (4 patients) Sanger sequencing showed the p.P301T mutation in exon 10 of the MAPT gene. Neuropathological findings consisted of atrophy of frontal and temporal lobes with marked spongiosis and astrogliosis, and abundant phosphorylated tau protein deposits in the frontal and temporal cortex, limbic area, basal ganglia, and brain stem. The most striking finding was the presence of oligodendroglial 4R phospho-tau globular positive inclusions in the white matter and cortex. Globose-type neurofibrillary neuronal tangles, and in particular astrocytic globular inclusions and coarse tufts, were present in the grey matter. Biochemical analysis of sarkosyl-insoluble fractions revealed two tau bands of 64 and 68 kDa and case-dependent bands of lower molecular weight. CONCLUSION: This is the first pathological and biochemical study of the MAPT p.P301T mutation showing variable clinical manifestation and neuropathological phenotype of globular glial tauopathy not only among different families but also within families.


Assuntos
Substância Cinzenta , Neuroglia , Tauopatias , Substância Branca , Proteínas tau/metabolismo , Idoso , Feminino , Substância Cinzenta/metabolismo , Substância Cinzenta/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Neuroglia/metabolismo , Neuroglia/patologia , Linhagem , Espanha , Tauopatias/genética , Tauopatias/metabolismo , Tauopatias/patologia , Tauopatias/fisiopatologia , Substância Branca/metabolismo , Substância Branca/patologia , Proteínas tau/genética
2.
Neurología (Barc., Ed. impr.) ; 33(1): 13-17, ene.-feb. 2018. tab
Artigo em Espanhol | IBECS | ID: ibc-172542

RESUMO

Introducción: Describir los tipos de demencia en una serie de pacientes valorados en una clínica psicogeriátrica y estimar el grado de acuerdo entre el diagnóstico clínico y el anatomopatológico. Material y métodos: Realizamos un análisis descriptivo de la prevalencia de los tipos de demencia entre los pacientes valorados en nuestro centro y establecemos el grado de concordancia entre el diagnóstico clínico y el anatomopatológico. Los diagnósticos se establecieron en función de los criterios diagnósticos vigentes en cada momento. Resultados: Ciento catorce casos cumplieron los criterios de inclusión. Los diagnósticos más frecuentes tanto a nivel clínico como anatomopatológico fueron enfermedad de Alzheimer y demencia mixta, pero la prevalencia se invirtió pasando de un 39% y 18% a nivel clínico a un 22% y 34% a nivel anatomopatológico respectivamente. La concordancia entre el diagnóstico clínico y el anatomopatológico fue de un 62% (IC 95%: 53-72%). Conclusiones: Casi un tercio de nuestros pacientes no tenía un diagnóstico certero en vida, fundamentalmente a expensas del infradiagnóstico a nivel clínico de la enfermedad cerebrovascular (AU)


Introduction: The aim of our study is to describe the types of dementia found in a series of patients and to estimate the level of agreement between the clinical diagnosis and post-mortem diagnosis. Material and Methods: We conducted a descriptive analysis of the prevalence of the types of dementia found in our series and we established the level of concordance between the clinical and the post-mortem diagnoses. The diagnosis was made based on current diagnostic criteria. Results: 114 cases were included. The most common clinical diagnoses both at a clinical and autopsy level were Alzheimer disease and mixed dementia but the prevalence was quite different. While at a clinical level, prevalence was 39% for Alzheimer disease and 18% for mixed dementia, in the autopsy level, prevalence was 22% and 34%, respectively. The agreement between the clinical and the autopsy diagnoses was 62% (95% CI 53-72%). Conclusions: Almost a third of our patients were not correctly diagnosed in vivo. The most common mistake was the underdiagnosis of cerebrovascular pathology (AU)


Assuntos
Humanos , Masculino , Feminino , Idoso , Idoso de 80 Anos ou mais , Demência Vascular/epidemiologia , Demência Vascular/patologia , Doença de Alzheimer/epidemiologia , Doença de Alzheimer/patologia , Autopsia/métodos , Diagnóstico por Imagem/métodos , Epidemiologia Descritiva , Doenças Neurodegenerativas , Transtornos Cerebrovasculares , Comorbidade
3.
Neurologia (Engl Ed) ; 33(1): 13-17, 2018.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-27328891

RESUMO

INTRODUCTION: The aim of our study is to describe the types of dementia found in a series of patients and to estimate the level of agreement between the clinical diagnosis and post-mortem diagnosis. MATERIAL AND METHODS: We conducted a descriptive analysis of the prevalence of the types of dementia found in our series and we established the level of concordance between the clinical and the post-mortem diagnoses. The diagnosis was made based on current diagnostic criteria. RESULTS: 114 cases were included. The most common clinical diagnoses both at a clinical and autopsy level were Alzheimer disease and mixed dementia but the prevalence was quite different. While at a clinical level, prevalence was 39% for Alzheimer disease and 18% for mixed dementia, in the autopsy level, prevalence was 22% and 34%, respectively. The agreement between the clinical and the autopsy diagnoses was 62% (95% CI 53-72%). CONCLUSIONS: Almost a third of our patients were not correctly diagnosed in vivo. The most common mistake was the underdiagnosis of cerebrovascular pathology.


Assuntos
Doença de Alzheimer/patologia , Autopsia , Encéfalo/patologia , Psiquiatria Geriátrica , Idoso , Doença de Alzheimer/epidemiologia , Transtornos Cerebrovasculares , Disfunção Cognitiva/epidemiologia , Demência Vascular/epidemiologia , Feminino , Humanos , Masculino , Prevalência , Espanha/epidemiologia
4.
Clin. transl. oncol. (Print) ; 17(2): 139-144, feb. 2015. tab, ilus
Artigo em Inglês | IBECS | ID: ibc-132884

RESUMO

Objective. To determine the impact of initial FDG PET/CT staging on clinical stage and the management plan in patients with locally advanced head and neck cancer (LAHNC). Materials and methods. We retrospectively reviewed the records of 72 consecutive patients (2007–2010) staged with PET/CT and conventional CT with tumours of hypopharynx/larynx (26 patients, 36 %), oral cavity (17 patients, 24 %), oropharynx (16 patients, 22 %), nasopharynx (12 patients, 17 %), and others (2 %). The impact of PET/CT on management plans was considered high when PET/CT changed the planned treatment modality or treatment intent, and intramodality changes were considered as minor changes with low impact. Results. FDG PET/CT changed the stage in 27 patients and had high impact on the management plan in 12 % of patients (detection of distant metastases in 6 patients and stage II in 2 patients). Intramodality changes were more frequent: FDG PET/CT altered the TNM stage in 18/72 (25 %) of patients, upstaging N stage in 90 % of patients with low impact. Conclusions. Initial FDG PET/CT staging not only improves stage but also affects the management plan in LAHNC patients (AU)


No disponible


Assuntos
Humanos , Masculino , Feminino , Neoplasias de Cabeça e Pescoço , Tomografia por Emissão de Pósitrons/instrumentação , Tomografia por Emissão de Pósitrons/métodos , Tomografia por Emissão de Pósitrons , Estadiamento de Neoplasias/instrumentação , Estadiamento de Neoplasias/métodos , Neoplasias de Cabeça e Pescoço/fisiopatologia , Neoplasias de Cabeça e Pescoço/radioterapia , Tomografia por Emissão de Pósitrons/normas , Estudos Retrospectivos , Hipofaringe/patologia , Hipofaringe , Neoplasias Hipofaríngeas , Boca , Nasofaringe , Neoplasias Nasofaríngeas
5.
Clin Transl Oncol ; 17(2): 139-44, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25078571

RESUMO

OBJECTIVE: To determine the impact of initial FDG PET/CT staging on clinical stage and the management plan in patients with locally advanced head and neck cancer (LAHNC). MATERIALS AND METHODS: We retrospectively reviewed the records of 72 consecutive patients (2007-2010) staged with PET/CT and conventional CT with tumours of hypopharynx/larynx (26 patients, 36 %), oral cavity (17 patients, 24 %), oropharynx (16 patients, 22 %), nasopharynx (12 patients, 17 %), and others (2 %). The impact of PET/CT on management plans was considered high when PET/CT changed the planned treatment modality or treatment intent, and intramodality changes were considered as minor changes with low impact. RESULTS: FDG PET/CT changed the stage in 27 patients and had high impact on the management plan in 12 % of patients (detection of distant metastases in 6 patients and stage II in 2 patients). Intramodality changes were more frequent: FDG PET/CT altered the TNM stage in 18/72 (25 %) of patients, upstaging N stage in 90 % of patients with low impact. CONCLUSIONS: Initial FDG PET/CT staging not only improves stage but also affects the management plan in LAHNC patients.


Assuntos
Carcinoma de Células Escamosas/diagnóstico por imagem , Carcinoma de Células Escamosas/secundário , Fluordesoxiglucose F18 , Neoplasias de Cabeça e Pescoço/diagnóstico por imagem , Neoplasias de Cabeça e Pescoço/patologia , Tomografia por Emissão de Pósitrons/métodos , Tomografia Computadorizada por Raios X/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Gerenciamento Clínico , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Imagem Multimodal/métodos , Estadiamento de Neoplasias , Prognóstico , Compostos Radiofarmacêuticos , Estudos Retrospectivos
6.
Rev. clín. esp. (Ed. impr.) ; 214(8): 445-452, nov. 2014. tab
Artigo em Espanhol | IBECS | ID: ibc-129714

RESUMO

Antecedentes y objetivos. La tuberculosis es una endemia difícil de controlar. En España la tasa de incidencia es superior a la de otros países del entorno en los últimos años, a expensas de un mayor número de extranjeros afectos. Este estudio se propuso comparar sus características entre población inmigrante y autóctona en la última década. Pacientes y método. Estudio observacional, retrospectivo (2000-2011), multicéntrico en 2 áreas urbanas de Cataluña, comparativo de la presentación clínica (factores de riesgo, localización, infectividad), del retraso diagnóstico y cumplimentación del tratamiento de la tuberculosis, entre inmigrantes-autóctonos. Resultados. Se incluyó a 503 pacientes, 181 inmigrantes y 322 españoles. Los inmigrantes fueron más jóvenes (31 frente a 46 años de edad media; p<0,001). El 70,8% llevaba en España menos de 5 años. La tuberculosis pulmonar fue la forma de presentación clínica más común (61,4%), con frecuencias similares en inmigrantes o autóctonos. Solo la afectación osteoarticular fue significativamente más frecuente en inmigrantes procedentes del África subsahariana. La mediana de retraso diagnóstico fue de 32 días, sin diferencias con respecto a la población española. La correcta cumplimentación del tratamiento tuberculostático tendió a ser inferior en inmigrantes (84,3% frente a 88,3%; p=0,051). Los abandonos del tratamiento fueron más frecuentes en inmigrantes (8 abandonos; p<0,001). Conclusión. Las principales características clínicas, así como del manejo diagnóstico y terapéutico de los pacientes inmigrantes con tuberculosis incluidos en este estudio fueron similares a los de la población autóctona (AU)


Background and objectives. Tuberculosis is a difficult-to-control endemic, and its incidence rate in Spain is greater than that of neighboring countries. In recent years, this has been due to an increased number of foreigners infected with the disease. The aim of this study was to compare the characteristics of this disease between immigrant and native populations in the last decade. Patients and method. Observational, retrospective (2000-2011) multicenter study in 2 urban areas of Catalonia comparing the clinical presentation (risk factors, location and infectivity), the diagnostic delay and the completion of tuberculosis treatment between immigrants and natives. Results. A total of 503 patients (181 immigrants and 322 Spaniards) were included. The immigrants were younger (mean age of 31 versus 46 years; P<.001), and 70.8% had lived in Spain for less than 5 years. Pulmonary tuberculosis was the most common clinical presentation (61.4%), with similar frequencies in immigrants and natives. Only osteoarticular involvement was significantly more common in immigrants from sub-Saharan Africa. The median diagnostic delay was 32 days, with no differences compared with the Spanish population. Proper adherence to the tuberculostatic treatment tended to be lower for immigrants (84.3% vs. 88.3%, P=.051). Treatment dropout was more common in immigrants (8 dropouts, P<.001). Conclusion. The main clinical characteristics and the diagnostic and therapeutic handling of immigrant patients with tuberculosis included in this study were similar to those of the native population (AU)


Assuntos
Humanos , Masculino , Feminino , Adulto Jovem , Adulto , Tuberculose/epidemiologia , Emigrantes e Imigrantes/estatística & dados numéricos , Fatores de Risco , Prognóstico , Estudos Retrospectivos , Mycobacterium tuberculosis/isolamento & purificação , Tuberculose/classificação , Tuberculose/fisiopatologia , Análise Multivariada
7.
Rev Clin Esp (Barc) ; 214(8): 445-52, 2014 Nov.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-25193789

RESUMO

BACKGROUND AND OBJECTIVES: Tuberculosis is a difficult-to-control endemic, and its incidence rate in Spain is greater than that of neighboring countries. In recent years, this has been due to an increased number of foreigners infected with the disease. The aim of this study was to compare the characteristics of this disease between immigrant and native populations in the last decade. PATIENTS AND METHOD: Observational, retrospective (2000-2011) multicenter study in 2 urban areas of Catalonia comparing the clinical presentation (risk factors, location and infectivity), the diagnostic delay and the completion of tuberculosis treatment between immigrants and natives. RESULTS: A total of 503 patients (181 immigrants and 322 Spaniards) were included. The immigrants were younger (mean age of 31 versus 46 years; P<.001), and 70.8% had lived in Spain for less than 5 years. Pulmonary tuberculosis was the most common clinical presentation (61.4%), with similar frequencies in immigrants and natives. Only osteoarticular involvement was significantly more common in immigrants from sub-Saharan Africa. The median diagnostic delay was 32 days, with no differences compared with the Spanish population. Proper adherence to the tuberculostatic treatment tended to be lower for immigrants (84.3% vs. 88.3%, P=.051). Treatment dropout was more common in immigrants (8 dropouts, P<.001). CONCLUSION: The main clinical characteristics and the diagnostic and therapeutic handling of immigrant patients with tuberculosis included in this study were similar to those of the native population.

8.
Rev. clín. esp. (Ed. impr.) ; 212(8): 391-402, sept. 2012. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-103528

RESUMO

Este artículo recoge las últimas novedades que se han producido en diferentes aspectos de la enfermedad tromboembólica venosa (ETEV): a) profilaxis de la ETEV en cirugía ortopédica mayor; b) profilaxis de la ETEV en pacientes médicos; c) avances terapéuticos en la embolia pulmonar; d) en la trombosis venosa superficial; y e) perspectivas de futuro en la ETEV. Se resumen las 5 ponencias desarrolladas en la II Jornada de Novedades en Tratamiento Anticoagulante (Madrid, 18 noviembre de 2011), organizada por la Fundación para el Estudio de la Enfermedad Tromboembólica en España y auspiciada por la Sociedad Española de Medicina Interna, Sociedad Española de Neumología y Cirugía Torácica, Sociedad Española de Cardiología, Sociedad Española de Trombosis y Hemostasia, y Sociedad Española de Angiología y Cirugía Vascular(AU)


This paper brings together the latest developments that have occurred in different aspects of venous thromboembolism (VTE): VTE prophylaxis in high-risk orthopedic surgery and acutely ill hospitalized medical patients; therapeutic advances in pulmonary embolism and superficial vein thrombosis and VTE future prospects. It summarizes the reviews that five speakers made in-depth for the Second Day in New Anticoagulant Treatment, held in Madrid on November 18, 2011, organized by the Foundation for the Study of Thromboembolic Disease in Spain and endorsed by the Spanish Society of Internal Medicine, Spanish Society of Pneumology and Thoracic Surgery, Spanish Society of Cardiology, Spanish Society of Thrombosis and Haemostasis and the Spanish Society of Angiology and Vascular Surgery(AU)


Assuntos
Humanos , Masculino , Feminino , Tromboembolia Venosa/terapia , Antibioticoprofilaxia/métodos , Ortopedia/métodos , Anticoagulantes/uso terapêutico , Tromboembolia Venosa/prevenção & controle , Enoxaparina/uso terapêutico , Tromboembolia Venosa/fisiopatologia , Tromboembolia Venosa , Procedimentos Ortopédicos/métodos
9.
Rev Clin Esp ; 212(8): 391-402, 2012 Sep.
Artigo em Espanhol | MEDLINE | ID: mdl-22621713

RESUMO

This paper brings together the latest developments that have occurred in different aspects of venous thromboembolism (VTE): VTE prophylaxis in high-risk orthopedic surgery and acutely ill hospitalized medical patients; therapeutic advances in pulmonary embolism and superficial vein thrombosis and VTE future prospects. It summarizes the reviews that five speakers made in-depth for the Second Day in New Anticoagulant Treatment, held in Madrid on November 18, 2011, organized by the Foundation for the Study of Thromboembolic Disease in Spain and endorsed by the Spanish Society of Internal Medicine, Spanish Society of Pneumology and Thoracic Surgery, Spanish Society of Cardiology, Spanish Society of Thrombosis and Haemostasis and the Spanish Society of Angiology and Vascular Surgery.


Assuntos
Anticoagulantes/uso terapêutico , Procedimentos Ortopédicos , Complicações Pós-Operatórias/prevenção & controle , Embolia Pulmonar/tratamento farmacológico , Tromboembolia Venosa/prevenção & controle , Trombose Venosa/tratamento farmacológico , Antitrombinas/uso terapêutico , Inibidores do Fator Xa , Humanos , Guias de Prática Clínica como Assunto , Tromboembolia Venosa/etiologia , Trombose Venosa/diagnóstico
10.
Anat Rec (Hoboken) ; 294(7): 1191-7, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21618706

RESUMO

The prevalence of neurodegenerative disorders increases dramatically with advancing age. Although in recent decades the study of many neurodegenerative disorders has evolved greatly, the concept of neurodegeneration still remains elusive. Although neurodegenerative disorders are classified according to the major components of protein deposits, coexpression of several abnormal proteins in the brain tissue is more common than that was previously thought. The aim of this report is to describe the type of protein deposits found in brains with neuropathological diagnosis of neurodegenerative disease. The report shows the experience obtained in the Brain Bank of Navarra (Spain). The target population for this retrospective descriptive study comprised 178 brains autopsied in the "Hospital of Navarra" in Pamplona between 1994 and 2004 and 201 brains donated to the Brain Bank of Pamplona between 2004 and 2009. The diagnosis of the 201 brains from the Brain Bank was 62 (30.8%) Alzheimer's disease (AD), 43 (21.3%) multiprotein deposit, 31 (15.4%) α-synucleinopathies, 31 (15.4%) frontotemporal lobar degeneration (FTLD), 17 (8.4%) tauopathies, 9 (4.4%) prion disease, 6 (2.9%) vascular dementia (VD), and 2 (0.9%) Huntington's disease. Among the 43 cases with multiprotein deposits, we found 35 brains with deposits of 3 proteins (tau, ß-amyloid, and α-synuclein). In these two series of brains, the high incidence of deposition of multiple proteins in neurodegenerative disorders is shown. Our results are in agreement with previous findings showing that tau, ß-amyloid, and α-synuclein are the proteins most frequently deposited together.


Assuntos
Precursor de Proteína beta-Amiloide/metabolismo , Encéfalo/metabolismo , Doenças Neurodegenerativas/diagnóstico , Doenças Neurodegenerativas/metabolismo , alfa-Sinucleína/metabolismo , Proteínas tau/metabolismo , Idoso de 80 Anos ou mais , Autopsia , Humanos , Técnicas Imunoenzimáticas , Estudos Retrospectivos , Espanha , Bancos de Tecidos
11.
Radiología (Madr., Ed. impr.) ; 53(1): 67-70, ene.-feb. 2011. ilus
Artigo em Espanhol | IBECS | ID: ibc-86154

RESUMO

Presentamos el caso de un paciente con antecedentes laborales de exposición al polvo de madera durante 30 años, con el diagnóstico anatomopatológico de adenocarcinoma tipo intestinal mucinoso nasosinusal. El cuadro clínico por el que consultó el paciente era neurológico, objetivándose en el momento del diagnóstico una diseminación tumoral leptomeníngea intra y extracraneal, forma de presentación excepcional en este tipo de tumores(AU)


We present the case of a patient with a 30-year history of exposure to sawdust who was diagnosed with mucinous intestinal-type sinonasal adenocarcinoma after histological examination. The patient presented with neurological symptoms; moreover, intra- and extra-cranial leptomeningeal involvement, which is exceedingly rare in this type of tumors, was observed at the time of diagnosis(AU)


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Adenocarcinoma/complicações , Adenocarcinoma , Imageamento por Ressonância Magnética/métodos , Imageamento por Ressonância Magnética , Cistadenocarcinoma Mucinoso/complicações , Cistadenocarcinoma Mucinoso , Adenocarcinoma Mucinoso , Carcinoma , Adenocarcinoma/fisiopatologia , Prognóstico
13.
Radiologia ; 53(1): 67-70, 2011.
Artigo em Espanhol | MEDLINE | ID: mdl-20888019

RESUMO

We present the case of a patient with a 30-year history of exposure to sawdust who was diagnosed with mucinous intestinal-type sinonasal adenocarcinoma after histological examination. The patient presented with neurological symptoms; moreover, intra- and extra-cranial leptomeningeal involvement, which is exceedingly rare in this type of tumors, was observed at the time of diagnosis.


Assuntos
Adenocarcinoma/secundário , Neoplasias do Seio Maxilar/patologia , Neoplasias Meníngeas/secundário , Humanos , Masculino , Neoplasias do Seio Maxilar/diagnóstico , Neoplasias Meníngeas/diagnóstico , Pessoa de Meia-Idade
14.
Neurologia ; 21(8): 414-20, 2006 Oct.
Artigo em Espanhol | MEDLINE | ID: mdl-17013786

RESUMO

INTRODUCTION: Family prion diseases are caused by mutations in the gene coding the prion protein (PrP), originating an altered isoform called prion. One of the most uncommon is the fatal familial insomnia (FFI), an entity characterized by sleep disorders and that is associated to a mutation in codon 178. METHODS: We have studied two male patients, aged 43 and 49 years respectively, from the same family. RESULTS: The most significant symptoms were sleep disorders with agitation, fractionated sleep, snoring and daytime sleepiness. The evolution was brief, the patient dying at a few months of the clinical debut. Sleep registries showed destructuration with total loss of the normal cycle of the phases and great decrease of the sleep spindles and K complexes in both cases. The polygraphy showed tachycardia and apnea pauses. In the molecular study, a mutation in the codon 178 was detected, both being methionine/methionine homozygotes at position 129. The most outstanding neuropathological abnormalities were located in the thalamus with gliosis and neuronal loss of anterior and dorsomedial ventral nuclei and also intense neuronal loss in olive of the first case. CONCLUSIONS: This study describes two new cases of FFI with genotype D178N-129M and short course classical phenotype. The polysomnography is essential in the diagnostic strategy of this disease whose neuropathological substrate is the thalamic alterations and of the inferior olive. Molecular biology permits an exact diagnosis of FFI although there is still controversy on the phenotypal variability and physiopathogenic mechanisms.


Assuntos
Insônia Familiar Fatal , Adulto , Evolução Fatal , Genótipo , Humanos , Insônia Familiar Fatal/patologia , Insônia Familiar Fatal/fisiopatologia , Masculino , Pessoa de Meia-Idade , Fenótipo , Polissonografia
15.
Neurología (Barc., Ed. impr.) ; 21(8): 414-420, oct. 2006. ilus
Artigo em Espanhol | IBECS | ID: ibc-138352

RESUMO

Introducción. Las enfermedades priónicas familiares son causadas por mutaciones en el gen que codifica la proteína priónica (PrP), originando una isoforma alterada denominada prión; una de las más infrecuentes es el insomnio letal familiar (ILF), entidad caracterizada por alteraciones en el sueño y que se asocia a una mutación en el codón 178. Métodos. Estudiamos dos pacientes varones de una misma familia de 43 y 49 años, respectivamente. Resultados. Los síntomas más relevantes fueron los trastornos del sueño con agitación, sueño fraccionado, ronquido e hipersomnia diurna; el curso evolutivo fue breve, falleciendo a los pocos meses del inicio clínico. En los registros de sueño se apreció en los dos casos desestructuración del mismo con pérdida total del ciclo normal de las fases y gran disminución de husos de sueño y complejos K. La poligrafía evidenció taquicardia y pausas de apnea. En el estudio molecular se detectó una mutación en el codón 178, siendo ambos homocigotos metionina/metionina en la posición 129. Las alteraciones neuropatológicas más llamativas se localizaron en el tálamo con gliosis y pérdida neuronal de núcleos ventral anterior y dorsomedial; además, intensa pérdida neuronal en la oliva bulbar del primer caso. Conclusiones. Este estudio describe dos nuevos casos de ILF con genotipo D178N-129M y fenotipo clásico de corta evolución. La polisomnografía es esencial en la estrategia diagnóstica de esta enfermedad, cuyo sustrato neuropatológico son las alteraciones talámicas y de la oliva inferior. La biología molecular permite un diagnóstico preciso del ILF, aunque sigue habiendo controversias sobre la variabilidad fenotípica y los mecanismos fisiopatogénicos (AU)


Introduction: Family prion diseases are caused by mutations in the gene coding the prion protein (PrP), originating an altered isoform called prion. One of the most uncommon is the fatal familial insomnia (FFI), an entity characterized by sleep disorders and that is associated to a mutation in codon 178. Methods: We have studied two male patients, aged 43 and 49 years respectively, from the same family. Results: The most significant symptoms were sleep disorders with agitation, fractionated sleep, snoring and daytime sleepiness. The evolution was brief, the patient dying at a few months of the clinical debut. Sleep registries showed destructuration with total loss of the normal cycle of the phases and great decrease of the sleep spindles and K complexes in both cases. The polygraphy showed tachycardia and apnea pauses. In the molecular study, a mutation in the codon 178 was detected, both being methionine/methionine homozygotes at position 129. The most outstanding neuropathological abnormalities were located in the thalamus with gliosis and neuronal loss of anterior and dorsomedial ventral nuclei and also intense neuronal loss in olive of the first case. Conclusions: This study describes two new cases of FFI with genotype D178N-129M and short course classical phenotype. The polysomnography is essential in the diagnostic strategy of this disease whose neuropathological substrate is the thalamic alterations and of the inferior olive. Molecular biology permits an exact diagnosis of FFI although there is still controversy on the phenotypal variability and physiopathogenic mechanisms (AU)


Assuntos
Adulto , Humanos , Masculino , Pessoa de Meia-Idade , Insônia Familiar Fatal/patologia , Insônia Familiar Fatal/fisiopatologia , Evolução Fatal , Genótipo , Fenótipo , Polissonografia
16.
J Thromb Haemost ; 3(5): 856-62, 2005 May.
Artigo em Inglês | MEDLINE | ID: mdl-15869577

RESUMO

BACKGROUND: Data evaluating the safety of using weight-based dosing of low-molecular-weight heparin (LMWH) in either underweight or obese patients with venous thromboembolism (VTE) are limited. Thus, recommendations based on evidence from clinical trials might not be suitable for patients with extreme body weight. PATIENTS AND METHODS: Patients with objectively confirmed, symptomatic acute VTE are consecutively enrolled into the Registro Informatizado de la Enfermedad TromboEmbólica (RIETE) registry. For this analysis, data from patients in the following ranges of body weight were examined: <50, 50-100, and >100 kg. Patient characteristics, underlying conditions, treatment schedules and clinical outcomes during the first 15 days of treatment were compared. RESULTS: As of August 2004, 8845 patients with acute VTE were enrolled from 94 participating centers. Of these, 169 (1.9%) weighed <50 kg, 8382 (95%) weighed 50-100 kg and 294 (3.3%) weighed >100 kg. Patients weighing <50 kg were more commonly females, were taking non-steriodal antiinflammatory drugs (NSAIDs), and had severe underlying diseases more often than patients weighing 50-100 kg. Their incidence of overall bleeding complications was significantly higher than in patients weighing 50-100 kg (odds ratio 2.2; 95% CI: 1.2-4.0). Patients weighing >100 kg were younger, most commonly males, and had cancer less often than those weighing 50-100 kg. Incidences of recurrent VTE, fatal pulmonary embolism or major bleeding complications were similar in both groups. CONCLUSIONS: Patients with VTE weighing <50 kg have a significantly higher rate of bleeding complications. The clinical outcome of patients weighing over 100 kg was not significantly different from that in patients weighing 50-100 kg.


Assuntos
Obesidade/complicações , Trombose Venosa/tratamento farmacológico , Idoso , Anti-Inflamatórios não Esteroides/uso terapêutico , Anticorpos/imunologia , Plaquetas/imunologia , Peso Corporal , Ensaios Clínicos como Assunto , Feminino , Heparina/uso terapêutico , Heparina de Baixo Peso Molecular/uso terapêutico , Humanos , Masculino , Pessoa de Meia-Idade , Obesidade/mortalidade , Razão de Chances , Embolia Pulmonar/complicações , Embolia Pulmonar/mortalidade , Sistema de Registros , Fatores de Tempo , Resultado do Tratamento
18.
Oncología (Barc.) ; 27(3): 131-134, mar. 2004. tab
Artigo em Es | IBECS | ID: ibc-31503

RESUMO

La habilidad del melanoma maligno metastásico para asumir una amplia variedad de patrones morfológicos, incluyendo distintos tipos de sarcoma es bien conocida. Las metástasis de melanoma maligno en ovario, cuando se presentan como tumor primitivo ovárico son un hecho excepcional. Presentamos en este artículo un caso inusual de metástasis unilateral de melanoma maligno, sin una evidencia clínica de tumor primario. Se discute la historia clínica y el diagnostico diferencial . La paciente presentó una tumoración ovárica de 12 cm, acompañada de un nódulo en meso de colon transverso de 2 cm, ambos presentaban una superficie lobulada. En algunas áreas y particularmente en el ovario, la morfología del tumor era predominatemente epitelioide y el patrón de crecimiento periteliomatoso. En el mesenterio la morfología era predominantemente fusocelular y su apariencia recordaba a un tumor maligno de vaina nerviosa periférica, incluyendo areas de necrosis geográfica. Las células tumorales expresaron vimentina, HMB-45, actina y S-100 (difusa). La distribución de los nódulos tumorales, la combinación de patrones mortológicos, y el perfil inmunohistoquímico es consistente con el diagnóstico de metastasis de melanoma maligno (AU)


Assuntos
Adulto , Feminino , Humanos , Melanoma/tratamento farmacológico , Melanoma/secundário , Neoplasias Ovarianas/secundário , Neoplasias Ovarianas/tratamento farmacológico , Neoplasias Primárias Desconhecidas/patologia , Diagnóstico Diferencial , Evolução Fatal
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