RESUMEN
BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder frequently associated with cerebrovascular disease. In recent years, the prevalence of FD has been reported to be up to 4% in cryptogenic young stroke patients. However, there have been no population-based studies in unselected patients with transient ischaemic attack (TIA) or stroke across the full range of ages. METHODS: We determined the prevalence of FD mutations in consecutive patients from a population-based study of acute TIA or ischaemic stroke (Oxford Vascular Study). Analysis included amplifying of the α-galactosidase A gene by polymerase chain reaction, denaturing high-performance liquid chromatography (dHPLC) analysis and sequencing using standard automated sequencing protocols [Mutation Surveyor software (Softgenetics)] where the dHPLC indicated a possible mutation. RESULTS: Samples of 1046 consecutive patients (52% women; mean age 73.2 years; 15% age <60 years; 572 stroke; 474 TIA) were tested. No patient had a known gene mutation causing FD, giving an upper 95% confidence interval around the estimated frequency of 0.35% overall and 2.37% in the 154 patients aged under 60 years. However, in 5 (0.48%) samples, a known polymorphism or sequence variation in the gene was identified that can be associated with lower than normal enzyme activity in plasma without causing the full clinical manifestation of FD. CONCLUSIONS: Fabry disease is rare in an unselected group of UK patients with TIA or stroke. Larger studies in unselected younger patients with cryptogenic stroke are required to determine whether routine screening is justified in this group.
Asunto(s)
Enfermedad de Fabry/complicaciones , Enfermedad de Fabry/epidemiología , Ataque Isquémico Transitorio/etiología , Accidente Cerebrovascular/etiología , Adulto , Anciano , Anciano de 80 o más Años , Cromatografía Líquida de Alta Presión , Análisis Mutacional de ADN , Enfermedad de Fabry/genética , Femenino , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Prevalencia , Adulto Joven , alfa-Galactosidasa/genéticaRESUMEN
Introducción. Si bien el topiramato en el terreno farmacológico ha mostrado probada eficacia en los trastornos del control de impulsos (TCI), este hecho no ha sido constatado con la misma evidencia en niños y adolescentes. Nuestro objetivo consiste en valorar la mejoría sintomática de diversos TCI en dichas edades tras la introducción del topiramato.Caso clínico. Once casos con TCI (criterios DSM-IV) fueron evaluados mediante la escala de impulsividad de Barrat (EIB) de forma basal y al mes y los 3 meses del inicio de tratamiento con topiramato.Resultados. Encontramos diferencias significativas en la subescala de impulsividad cognitiva (p = 0,040) y en la puntuación global de la EIB (p=0,043) entre la puntuación basal y al mes de tratamiento; a los 3 meses también la subescala de impulsividad motora mostró diferencias significativas con respecto a la basal (p=0,015).Conclusiones. Las reducciones significativas en la puntuación de la EIB en pacientes valorados en consulta de psiquiatría infantojuvenil por TCI bajo criterios consensuados hacen considerar el topiramato un fármaco eficaz en el control de la impulsividad asociada a diversos trastornos psiquiátricos también en niños y adolescentes. Son necesarios más estudios que incluyan un número mayor de casos y con grupo control para confirmar estos resultados
Introduction. Although in the pharmacological field topiramate has shown proved efficacy in impulsive behavioral disorders (IBD), this fact has not been demonstrated with the same evidence in children and adolescents. The aim of this study is to evaluate improvement of symptoms in different IBD in those ages after treatment with topiramate. ;;Clinical case. Eleven cases of IBD (DSM-IV criteria) were evaluated with the Barrat Impulsivity Scale (BIS), obtaining scores at zero, one and three months after starting treatment with topiramate. Results. We found significant differences in the cognitive impulsivity subscale (p=0.040) and total score of the BIS (p=0.043) when BIS scale was measured after one month of treatment; after three months of treatment, the motor impulsivity subscale also showed significant differences (p=0.015). Conclusions. The significant reductions at BIS scores in child and adolescents outpatients who have IBD make us consider topiramate as an effective pharmacological option for treatment of impulsivity in several psychiatric disorders, also in childhood and adolescence. More studies are needed to confirm these results, with bigger samples and control groups
Asunto(s)
Masculino , Femenino , Niño , Adolescente , Humanos , Trastornos Disruptivos, del Control de Impulso y de la Conducta/tratamiento farmacológico , Anticonvulsivantes/farmacocinética , Escalas de Valoración Psiquiátrica/estadística & datos numéricosRESUMEN
INTRODUCTION: Although in the pharmacological field topiramate has shown proved efficacy in impulsive behavioral disorders (IBD), this fact has not been demonstrated with the same evidence in children and adolescents. The aim of this study is to evaluate improvement of symptoms in different IBD in those ages after treatment with topiramate. CLINICAL CASE: Eleven cases of IBD (DSM-IV criteria) were evaluated with the Barrat Impulsivity Scale (BIS), obtaining scores at zero, one and three months after starting treatment with topiramate. RESULTS: We found significant differences in the cognitive impulsivity subscale (p=0.040) and total score of the BIS (p=0.043) when BIS scale was measured after one month of treatment; after three months of treatment, the motor impulsivity subscale also showed significant differences (p=0.015). CONCLUSIONS: The significant reductions at BIS scores in child and adolescents outpatients who have IBD make us consider topiramate as an effective pharmacological option for treatment of impulsivity in several psychiatric disorders, also in childhood and adolescence. More studies are needed to confirm these results, with bigger samples and control groups.
Asunto(s)
Anticonvulsivantes/uso terapéutico , Trastornos Disruptivos, del Control de Impulso y de la Conducta/tratamiento farmacológico , Fructosa/análogos & derivados , Adolescente , Niño , Femenino , Fructosa/uso terapéutico , Humanos , Masculino , Topiramato , Resultado del TratamientoRESUMEN
BACKGROUND: The generation of AML-specific T-lymphocyte responses by leukemia-derived DC has been documented by multiple investigators and is being pursued clinically. An obstacle to widespread use of this strategy is that it has not been possible to generate leukemic DC from all patients, and an alternative approach is needed if the majority of leukemia patients are to receive therapeutic vaccination in conjunction with other treatment protocols. METHODS: In the present study, we generated DC from CD14-selected monocytes isolated from healthy donor PBPC and loaded them with a total cell lysate from AML patient blasts. RESULTS: Immature in vitro-derived DC exhibited robust phagocytic activity, and mature DC demonstrated high expression of CD80, CD83, CD86 and the chemokine receptor CCR7, important for DC migration to local lymph nodes. Mature, Ag-loaded DC were used as APC for leukemia-specific cytotoxic T-lymphocyte (CTL) induction and demonstrated cytotoxic activity against leukemic targets. CTL lysis was Ag-specific, with killing of both allogeneic leukemic blasts and autologous DC loaded with allogeneic AML lysate. HLA-matched controls were not lysed in our system. DISCUSSION: These data support further research into the use of this strategy as an alternative approach to leukemia-derived DC vaccination.
Asunto(s)
Células Dendríticas/inmunología , Leucemia Mieloide/inmunología , Células TH1/inmunología , Enfermedad Aguda , Células Presentadoras de Antígenos/inmunología , Células Presentadoras de Antígenos/fisiología , Antígenos CD/inmunología , Células Cultivadas , Células Dendríticas/fisiología , Humanos , Inmunofenotipificación , Interferón gamma/biosíntesis , Interleucina-1/inmunología , Interleucina-6/inmunología , Leucemia/inmunología , Leucemia/metabolismo , Leucemia/patología , Leucemia Mieloide/metabolismo , Leucemia Mieloide/patología , Modelos Lineales , Receptores de Lipopolisacáridos/inmunología , Activación de Linfocitos/inmunología , Monocitos/citología , Monocitos/inmunología , Fagocitosis/inmunología , Receptores de Quimiocina/inmunología , Linfocitos T Citotóxicos/citología , Linfocitos T Citotóxicos/inmunología , Células TH1/citología , Células Tumorales Cultivadas , Factor de Necrosis Tumoral alfa/inmunologíaRESUMEN
Although haematology analysers provide reliable full blood counts, they are known to be inaccurate at enumerating platelets in severe thrombocytopenia. If the thresholds for platelet transfusion, currently set at 10 x 10(9)/l, are to be further reduced, it is vital that the limitations of current analysers are fully understood. The aim of this large multicentre study was to determine the accuracy of haematology analysers in current routine practice for platelet counts below 20 x 10(9)/l. Platelet counts estimated by analysers using optical, impedance and immunological methods were compared with the International Reference Method for platelet counting. The results demonstrated variation in platelet counting between different analysers and even the same type of analyser at different sites. Optical methods for platelet counting on the XE 2100, Advia 120, Cell-Dyn 4000 and H3* were not superior to impedance methods on the XE 2100, LH750 and Pentra analysers. All analysers except one overestimated the platelet count, which would result in under transfusion of platelets. This study highlights the inaccuracies of haematology analysers in platelet counting in severe thrombocytopenia. It re-emphasizes the need for external quality control to improve analyser calibration for samples with low platelet counts, and suggests that the optimal thresholds for prophylactic platelet transfusions should be re-evaluated.
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Recuento de Plaquetas/instrumentación , Transfusión de Plaquetas , Trombocitopenia/diagnóstico , Humanos , Recuento de Plaquetas/métodos , Recuento de Plaquetas/normas , Control de Calidad , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Trombocitopenia/sangre , Trombocitopenia/terapiaRESUMEN
Cycloid psychoses, described by Leonhard, have a sudden onset, unstable polymorphic delusion symptomatology, labile state of consciousness, lack of physical symptoms, quick remission with no residual mental abnormalities and normality between episodes. Leonhard distinguished three clinical forms: anxiety-happiness psychosis, excited-inhibited confusion psychosis and hyperkinetic-akinetic motility psychosis. The essential characteristics of this clinical subtypes are: polymorphism, global disturbance of psychic life, acute appearance of symptoms, total insomnia 3 days before onset of symptomatology, intra and interepisode lability, polar structure, tendency to repetition of episodes (phases) and a good long-term prognosis. We present a patient's clinical history and evolution that illustrate the characteristics of this kind of endogenous psychoses.
Asunto(s)
Antipsicóticos/uso terapéutico , Benzodiazepinas/uso terapéutico , Periodicidad , Trastornos Psicóticos/tratamiento farmacológico , Trastornos Psicóticos/psicología , Adulto , Femenino , Humanos , OlanzapinaRESUMEN
La psicosis cicloides, descritas por Leonhard, se caracterizan por un comienzo repentino, sintomatología delirante polimorfa e inestable, variación importante del estado de conciencia, ausencia de síntomas físicos, remisión rápida con restitutio ad integrum y normalidad intercrítica. Leonhard clasificó estas psicosis en tres grupos: psicosis de angustia-felicidad, psicosis confusional (incherente-estuporosa) y psicosis de la mortilidad (acinética e hipercinética). Los rasgos esenciales de las psicosis cicloides son: polimorfismo, alteración global de la vida psíquica, agudeza en la aparición de los síntomas, insomnio total 3 días antes de la aparición de los síntomas, labilidad intra e interepisódica, tendencia a la alternancia (estructura polar), tendencia a la repetición de los episodios (fases) y buen pronóstico a largo plazo. Presentamos el cuadro clínico y la evolución de una paciente que cumple las características de este tipo de psicosis endógenas (AU)
Cycloid psychoses, described by Leonhard, have a sudden onset, unstable polymorphic delusion symptomatology, labile state of consciousness, lack of physical symptoms, quick remission with no residual mental abnormalities and normality between episodes. Leonhard distinguished three clinical forms: anxiety-happiness psychosis, excited-inhibited confusion psychosis and hyperkinetic-akinetic motility psychosis. The essential characteristics of this clinical subtypes are: polymorphism, global disturbance of psychic life, acute appearance of symptoms, total insomnia 3 days before onset of symptomatology, intra and interepisode lability, polar structure, tendency to repetition of episodes (phases) and a good long-term prognosis. We present a patient´s clinical history and evolution that illustrate the characteristics of this kind of endogenous psychoses (AU)
Asunto(s)
Humanos , Trastornos PsicóticosRESUMEN
BACKGROUND: Obstructive sleep apnoea (OSA) is associated with high cardiovascular morbidity and mortality and is an independent risk factor for hypertension. Novel circulating cardiovascular risk markers enabling a more accurate prediction of cardiovascular risk have been identified. Examination of these markers may clarify the increased risk in OSA and contribute to an analysis of the benefits of treatment. METHODS: Plasma levels of total cholesterol and triglyceride and activated coagulation factors XIIa and VIIa, factors VII, VIII, XII, fibrinogen, thrombin-antithrombin (TAT), von Willebrand factor antigen (vWFAg), soluble P-selectin (sP-sel), and homocysteine were measured before and after treatment for 1 month with therapeutic or subtherapeutic (control) continuous positive airways pressure (CPAP) in 220 patients with OSA. RESULTS: Levels of activated coagulation factors XIIa, VIIa, TAT and sP-sel were higher in OSA patients at baseline than in unmatched controls, but did not fall with 1 month of therapeutic CPAP treatment. The raised sP-sel levels correlated only with body mass index (p = 0.002). There was a trend towards a significant fall in total cholesterol with therapeutic CPAP (p = 0.06) compared with the control group. In the therapeutic group there was a clinically significant mean fall in total cholesterol of 0.28 mmol/l (95% confidence interval 0.11 to 0.45, p = 0.001) which may reduce cardiovascular risk by about 15%. CONCLUSION: A number of activated coagulation factors are increased in untreated OSA patients, potentially contributing to vascular risk, but they do not fall with 1 month of CPAP treatment. Nasal CPAP may produce a clinically relevant fall in total cholesterol level, potentially reducing cardiovascular risk, but this needs to be verified in a larger prospective study.
Asunto(s)
Enfermedades Cardiovasculares/etiología , Apnea Obstructiva del Sueño/complicaciones , Adulto , Anciano , Factores de Coagulación Sanguínea/metabolismo , Enfermedades Cardiovasculares/metabolismo , Colesterol/sangre , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , Apnea Obstructiva del Sueño/metabolismo , Triglicéridos/sangreRESUMEN
AIMS: The aims of this study were to investigate the epidemiology of quinolone-resistant and -susceptible porcine isolates of Campylobacter coli and to characterize the genetic basis of quinolone resistance. METHODS AND RESULTS: Penner serotyping and flagellin gene sequence polymorphisms were used to investigate the epidemiology of the C. coli isolates. A total of 55 isolates were included, of which 30 were paired resistant and susceptible isolates from 15 pigs. Amplification of gyrA, gyrB and parC, followed by direct sequencing of amplicons was used to identify mutations in the targets of quinolones. Overall, 31 of the isolates were resistant to ciprofloxacin (minimum inhibitory concentrations (MIC), 2- >or = 32 microg x ml(-1)). Thirteen DdeI-flaA profiles were observed and resistant and susceptible strains were identified for nine profiles. The majority of resistant strains exhibited either profile 1 or 6. While profile 1 comprised susceptible and resistant strains, all of the strains with profile 6 were resistant to ciprofloxacin. The serogroup (O:24) of the profile 6 strains was identical. The only other serogroup to be uniformly associated with quinolone resistance was O:5. Strains with this phenotype comprised a number of genotypes, including profile 1. Only four of the paired isolates from individual pigs had the same profile. The genetic basis of quinolone resistance was investigated in two strains with ciprofloxacin MICs of 2 and > or = 32 miccrog x ml(-1), respectively. The amino acid substitution of isoleucine for threonine at position 86 was identified in the GyrA proteins from both strains. No mutations were identified in the GyrB proteins. CONCLUSIONS: There was an association between two of the genotypes, serotypes 5 and 24, and quinolone resistance. The association between genotype, serotype and resistance in C. coli isolates has not been reported previously. Only the mutation in GyrA associated with quinolone resistance was identified. No mutations in GyrB were identified. Amplification products of parC were not obtained and it may be that this gene is not present in some Campylobacter spp. SIGNIFICANCE AND IMPACT OF THE STUDY: This study provides data on the distribution of ciprofloxacin resistance between subtypes of C. coli.
Asunto(s)
Infecciones por Campylobacter/epidemiología , Infecciones por Campylobacter/veterinaria , Campylobacter coli/genética , Farmacorresistencia Bacteriana/genética , Porcinos/microbiología , Animales , Antiinfecciosos/farmacología , Infecciones por Campylobacter/tratamiento farmacológico , Campylobacter coli/clasificación , Campylobacter coli/efectos de los fármacos , Ciprofloxacina/farmacología , Girasa de ADN/genética , Topoisomerasa de ADN IV/genética , Flagelina/genética , Polimorfismo de Longitud del Fragmento de Restricción , SerotipificaciónRESUMEN
A 77-year-old man developed chronic disseminated intravascular coagulation (DIC) after surgical repair of a large infrarenal aortic aneurysm. Self-administered subcutaneous dalteparin therapy (5000 units o.d.) led to rapid relief of symptoms and sustained improvements in his platelet count and fibrinogen level; activation of coagulation and fibrinolysis appeared to be relatively unaffected. Long-term treatment with low-molecular-weight heparin can provide good symptomatic control of chronic DIC associated with abdominal aortic aneurysm.
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Anticoagulantes/uso terapéutico , Aneurisma de la Aorta Abdominal/cirugía , Dalteparina/uso terapéutico , Coagulación Intravascular Diseminada/tratamiento farmacológico , Complicaciones Posoperatorias/tratamiento farmacológico , Anciano , Antitrombinas/análisis , Aneurisma de la Aorta Abdominal/sangre , Aneurisma de la Aorta Abdominal/complicaciones , Enfermedad Crónica , Coagulación Intravascular Diseminada/sangre , Productos de Degradación de Fibrina-Fibrinógeno/análisis , Productos del Gen tat/análisis , Humanos , Masculino , Plasminógeno/análisis , Inhibidor 1 de Activador Plasminogénico/análisis , Recuento de Plaquetas , Complicaciones Posoperatorias/sangre , Protrombina/análisis , Activador de Tejido Plasminógeno/análisisRESUMEN
This is a report from the first phase of a longitudinal study of the ways young adults imagine their future lives. The future possible selves of 223 18- and 19-year-old adults were examined using the Anticipated Life History measure (ALH), a psychological instrument prompting participants to describe their future life course from their 21st birthday until their death. When the ALH narratives were coded for presence/absence of life events, female participants were more likely to predict career choice, marriage, children, divorce, and death of spouse than their male counterparts; when coded for psychological qualities, female participants demonstrated greater psychological complexity and awareness of future life role choices and conflicts. Participants with lower SES wrote ALH narratives with fewer altruistic acts, less awareness of life role complexity, and fewer anticipated conflicts and their resolutions than those with higher SES.
Asunto(s)
Ego , Acontecimientos que Cambian la Vida , Adolescente , Adulto , Altruismo , Conflicto Psicológico , Femenino , Predicción , Humanos , Relaciones Interpersonales , Masculino , Satisfacción Personal , Calidad de Vida , Autoevaluación (Psicología) , Factores Sexuales , Ajuste Social , Clase Social , Percepción SocialRESUMEN
As the site of insertion of the aadB gene cassette on pRAY, from a clinical isolate of Acinetobacter, is almost identical to the preferred site on integrons, the composite 59-base element (59-BE) associated with this cassette is potentially recombinationally active. By using a conduction assay to quantitate site activity, the 59-BE was recognized by integrase with high frequency, indicating that the composite site is recombinationally active.
Asunto(s)
Acinetobacter/genética , Proteínas Bacterianas/genética , Recombinación Genética , Acinetobacter/enzimología , Sitios de Unión , Integrasas/metabolismo , Mapeo RestrictivoRESUMEN
To improve turnaround time and decrease the cost of the identification of Candida glabrata, we evaluated four methods for the detection of trehalose assimilation or fermentation. These methods were compared with the API 20C method (bioMERIEUX, Hazelwood, Mo.) to determine accuracy. We recommend the use of Remel Rapid Trehalose Assimilation Broth because of its rapid, 3-h results, reasonable sensitivity, and low number of false positives.
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Candida/aislamiento & purificación , Técnicas Microbiológicas , Análisis Costo-Beneficio , Fermentación , Trehalosa/metabolismoRESUMEN
Basidiobolus species are filamentous fungi belonging to the order Entomophthorales. Unlike other zygomycetes, Basidiobolus species have been mainly associated with a tropical form of subcutaneous zygomycosis in otherwise healthy individuals. Visceral disease caused by this pathogen is rare, but cases of gastrointestinal infection with Basidiobolus ranarum have been reported worldwide. In many of these reports, the inflammatory disease of the colon has been confused with Crohn's disease. We report the third case of B. ranarum gastrointestinal infection in the United States, which was initially treated as inflammatory bowel disease.
Asunto(s)
Entomophthorales/aislamiento & purificación , Enfermedades Gastrointestinales/etiología , Cigomicosis/etiología , Enfermedades Gastrointestinales/patología , Humanos , Masculino , Persona de Mediana Edad , Cigomicosis/patologíaRESUMEN
Primer extension analyses carried out to identify the transcription start site of an aadB gene, which is part of a gene cassette recombined at a secondary site on an Acinetobacter plasmid, pRAY, suggest that transcription control signals in Acinetobacter are similar but not identical to their counterparts in Escherichia coli. pRAY was sequenced. An AT-rich region, containing eight copies of the consensus sequence, AAAAAATAT, previously shown to be present in the origins of replication of other Acinetobacter plasmids, was predicted to be the origin of pRAY. The translation product of one of the 10 open reading frames identified on pRAY shows homology to the mobilization protein, MbeA.
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Acinetobacter/genética , Plásmidos/genética , Proteínas Bacterianas/genética , Secuencia de Bases , Mapeo Cromosómico , Secuencia de Consenso , Cartilla de ADN/genética , ADN Bacteriano/genética , Genes Bacterianos , Genes Reguladores , Datos de Secuencia Molecular , Sistemas de Lectura AbiertaRESUMEN
OBJECTIVE: To assess the in vivo contribution to complement activation of an extracorporeal circuit and the use of high-dose aprotinin during major surgery. DESIGN: Sequential samples were obtained from 8 patients undergoing thoracic surgery, 20 patients undergoing orthotopic liver transplantation (OLT) using venovenous bypass, and 19 patients undergoing cardiac surgery using cardiopulmonary bypass (CPB). INTERVENTION: The latter two groups were part of a randomized controlled trial of high-dose aprotinin. MEASUREMENTS: Total complement activation was measured with the hemolytic complement activity and the C3 activation-specific marker, C3d antigen. MAIN RESULTS: Complement activation did not occur during thoracic surgery. During OLT, C3d antigen levels, expressed as mean +/- standard deviation (SD), were elevated from baseline at skin closure (8.6 +/- 2.5 v 13.0 +/- 5.2 mg/L; p = 0.0082). During cardiac surgery, C3d antigen levels increased 10 minutes after the start of CPB (pre-CPB, 8.0 +/- 1.9 v 14.2 +/- 3.1 mg/L; p = 0.0001) and remained at greater than baseline values postoperatively (8.0 +/- 1.9 v 11.8 +/- 2.3 mg/L; p = 0.002). There was no difference in complement activation in those receiving high-dose aprotinin during OLT or cardiac surgery. Complement activation during cardiac surgery using extracorporeal circulation occurred to a greater extent than during OLT and thoracic surgery. Complement activation during cardiac surgery or OLT was not attenuated by the use of high-dose aprotinin.