RESUMEN
BACKGROUND AND PURPOSE: Antibodies to glycine receptors (GlyR-Abs) were first defined in progressive encephalopathy with rigidity and myoclonus (PERM) but were subsequently identified in other clinical presentations. Our aim was to assess the clinical associations of all patients identified with GlyR-Abs in Queensland, Australia, between April 2014 and May 2017 and to compare these to cases reported in the literature. METHODS: A literature review identified the clinical features of all published GlyR-Ab-positive cases through online databases. A case series was undertaken via collection of clinical information from all patients diagnosed or known to immunology, pathology or neurological services in Queensland during the study period of 3 years. RESULTS: In all, 187 GlyR-Ab-positive cases were identified in the literature. The majority (47.6%) had PERM, 22.4% had epilepsy, but the remaining 30% included mixed phenotypes consisting of cerebellar ataxia, movement disorders, demyelination and encephalitis/cognitive dysfunction. By contrast, in our series of 14 cases, eight had clinical presentations consistent with seizures and epilepsy and only three cases had classical features of PERM. There was one case each of global fatiguable weakness with sustained clonus, laryngeal dystonia and movement disorder with hemiballismus and tics. The rate of response to immune therapy was similar in all groups. CONCLUSION: Antibodies to glycine receptors are linked to a spectrum of neurological disease. The results of the literature review and our case series suggest a greater relationship between GlyR-Abs and epilepsy than previously reported.
Asunto(s)
Autoanticuerpos , Rigidez Muscular/inmunología , Mioclonía/inmunología , Receptores de Glicina/inmunología , Adolescente , Adulto , Anciano , Australia , Niño , Preescolar , Encefalitis/inmunología , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Trastornos del Movimiento/inmunología , Fenotipo , Adulto JovenRESUMEN
The blacklegged tick, Ixodes scapularis Say (Acari: Ixodidae), has a wide geographical distribution in Ontario, Canada, with a detected range extending at least as far north as the 50th parallel. Our data of 591 adult I. scapularis submissions collected from domestic animals (canines, felines, and equines) and humans during a 10-yr period (1993-2002) discloses a monthly questing activity in Ontario that peaks in May and October. The Lyme disease spirochete Borrelia burgdorferi Johnson, Schmidt, Hyde, Steigerwalt & Brenner was detected in 12.9% of I. scapularis adults collected from domestic hosts with no history of out-of-province travel or exposure at a Lyme disease endemic area. Fifty-three isolates of B. burgdorferi were confirmed positive with polymerase chain reaction by targeting the rrf (5S)-rrl (23S) gene. Using DNA sequencing of the ribosomal species-specific rrf (5S) -rrl (23S) intergenic spacer region, all isolates belong to the pathogenic genospecies B. burgdorferi sensu stricto (s.s.). Nucleotide sequence analysis of a 218- to 220-bp amplicon fragment exhibits six cluster patterns and, collectively, these isolates branch into four phylogenetic cluster groups for both untraveled, mammalian hosts and those with travel to the northeastern United States (New Jersey and New York). Four of five geographic regions in Ontario had strain variants consisting of three different genomic cluster groups. Overall, our molecular characterization of B. burgdorferi s.s. shows genetic heterogeneity within Ontario and displays a connecting link to common strains from Lyme disease endemic areas in the northeastern United States. Moreover, our findings of B. burgdorferi in I. scapularis reveal that people and domestic animals may be exposed to Lyme disease vector ticks, which have wide-ranging distribution in eastern and central Canada.
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Vectores Arácnidos/microbiología , Vectores Arácnidos/fisiología , Borrelia burgdorferi/clasificación , Ixodes/microbiología , Ixodes/fisiología , Animales , Borrelia burgdorferi/genética , Borrelia burgdorferi/aislamiento & purificación , Gatos , ADN Bacteriano/química , ADN Espaciador Ribosómico/genética , Perros , Femenino , Variación Genética , Geografía , Caballos , Humanos , Enfermedad de Lyme/epidemiología , Enfermedad de Lyme/microbiología , Masculino , Datos de Secuencia Molecular , Ontario/epidemiología , Peromyscus , FilogeniaRESUMEN
OBJECTIVE: To map the range and scope of emergency nurse practitioner (ENP) services in the Northern and Yorkshire Region as part one of a three phased study investigating the developing role of the ENP on a multi-professional context. METHODS: A telephone survey was conducted in the 48 hospital trusts within the region. Semi-structured interviews were arranged with the senior nurses responsible for accident and emergency services in responding departments. Data collection entailed completion of a form comprising 14 open-ended questions designed to elicit information about the range and scope of ENP services (as defined by the Royal College of Nursing). Data were analysed using descriptive statistics. RESULTS: Interviews were conducted at 35 (73%) of the sites, 22 (63%) of which had an ENP service as defined above. Wide variation was found in the range of services in relation to: hours/days of availability; age range and sources of referrals of patients accessing the service; clinical caseloads of ENPs and the referral pathways to other services. CONCLUSION: The findings from the survey highlight the organic, context specific nature of ENP role developments in response to national government initiatives, professional agendas, and local service needs.
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Enfermería de Urgencia , Accesibilidad a los Servicios de Salud/estadística & datos numéricos , Enfermeras Practicantes/provisión & distribución , Factores de Edad , Enfermería de Urgencia/organización & administración , Inglaterra , Encuestas de Atención de la Salud , Accesibilidad a los Servicios de Salud/organización & administración , Humanos , Enfermeras Practicantes/organización & administración , Enfermeras Practicantes/estadística & datos numéricos , Teléfono , Recursos HumanosRESUMEN
This report describes a patient with intracranial Aspergillus flavus infection in whom it was impossible to remove the fungal mass surgically. Progressive fungal infiltration of the optic nerves was reversed and the extensive intracranial fungal burden was managed successfully with combination antifungal-immunomodulatory therapy alone.
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Anfotericina B/uso terapéutico , Antifúngicos/uso terapéutico , Aspergilosis/tratamiento farmacológico , Aspergillus flavus/crecimiento & desarrollo , Encefalopatías/tratamiento farmacológico , Citocinas/uso terapéutico , Adulto , Anfotericina B/administración & dosificación , Anfotericina B/farmacología , Antifúngicos/administración & dosificación , Antifúngicos/farmacología , Aspergilosis/patología , Aspergillus flavus/efectos de los fármacos , Encefalopatías/microbiología , Encefalopatías/patología , Quimioterapia Combinada , Femenino , Humanos , Liposomas , Imagen por Resonancia MagnéticaRESUMEN
Feline coronavirus genetic elements were detected by polymerase chain reaction from blood, fecal samples, and effusive fluid collected from 33 cheetahs in the U.S.A. Feline coronavirus-specific serum antibodies were also measured by indirect immunofluorescence. Ten cheetahs were positive for viral shedding by polymerase chain reaction, whereas 13 were seropositive by immunofluorescence. Results of serology did not consistently correlate with shedding of virus, and the capture antigen used for detection of feline coronavirus-specific antibodies had a significant impact on results. Testing of samples from one population over a 1-yr period indicated chronic infection in some animals. These relatively healthy carrier animals were a source of virus for contact animals. Screening programs in cheetah populations for feline coronavirus infection may be most reliable if a combination of serologic analysis and viral detection by polymerase chain reaction is used.
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Acinonyx , Infecciones por Coronaviridae/veterinaria , Coronavirus Felino/aislamiento & purificación , Reacción en Cadena de la Polimerasa/veterinaria , Animales , Animales de Zoológico , Anticuerpos Antivirales/sangre , Enfermedad Crónica , Infecciones por Coronaviridae/sangre , Infecciones por Coronaviridae/epidemiología , Coronavirus Felino/genética , Coronavirus Felino/inmunología , Exudados y Transudados/virología , Heces/virología , Femenino , Técnica del Anticuerpo Fluorescente Indirecta/métodos , Técnica del Anticuerpo Fluorescente Indirecta/veterinaria , Masculino , Reacción en Cadena de la Polimerasa/métodos , ARN Viral/análisis , Estudios Seroepidemiológicos , Estados Unidos/epidemiología , Esparcimiento de VirusRESUMEN
The steroid hormone estradiol (E2) elicits a spectrum of systemic and uterotropic responses in vivo. For example, E2 treatment of ovariectomized adult and sexually immature rodents leads to uterine leukocytic infiltration, cell proliferation, and organ growth. E2-regulated growth is also associated with a variety of normal and pathological phenotypes. Historically, the uterine growth response has been used as the key model to understand the molecular and biochemical mechanisms underlying E2-dependent growth. In this study, genome exclusion mapping identified two quantitative trait loci (QTL) in the mouse, Est2 and Est3 on chromosomes 5 and 11, respectively, that control the phenotypic variation in uterine wet weight. Both QTL are linked to a variety of E2-regulated genes, suggesting that they may represent loci within conserved gene complexes that play fundamental roles in mediating the effects of E2. Interaction and multiple trait analyses using the uterine leukocyte response and wet weight suggest that Est4, a QTL on chromosome 10, may encode an interacting factor that influences the quantitative variation in both responses. Our results show that E2-dependent responses can be genetically controlled and that a genetic basis may underlie the variation observed in many E2-dependent phenotypes.
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Mapeo Cromosómico , Estradiol/fisiología , Variación Genética/genética , Carácter Cuantitativo Heredable , Animales , Cromosomas Humanos Par 10/genética , Cromosomas Humanos Par 11/genética , Cromosomas Humanos Par 5/genética , Femenino , Humanos , Leucocitos/fisiología , Ratones , Ratones Endogámicos C3H , Ratones Endogámicos C57BL , Tamaño de los Órganos/fisiología , Fenotipo , Útero/anatomía & histología , Útero/citología , Útero/fisiologíaRESUMEN
A patient with recurrent episodes of complex partial status epilepticus and a distinctive pattern of periodic lateralized epileptiform discharges (PLEDs) is presented. The patient was subsequently shown to have a mitochondrial disorder of the MELAS type, a hitherto unreported association. The case illustrates that CPSE should be added to the list of possible causes of acute neurological deterioration in MELAS patients.
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Electroencefalografía/estadística & datos numéricos , Epilepsia Parcial Compleja/diagnóstico , Síndrome MELAS/diagnóstico , Estado Epiléptico/diagnóstico , Diagnóstico Diferencial , Humanos , Masculino , Persona de Mediana EdadRESUMEN
Staphylococcus caprae is a coagulase-negative, DNase-positive member of the genus Staphylococcus usually associated with goats, but since 1991 a few laboratories have reported isolating the organism from human clinical specimens. We report on the isolation of 14 strains from human specimens and note that 10 strains were obtained from patients with bone and joint infections. Nine of the 10 infections started with traumatic fractures, and the other was a case of mastoiditis. Seven of these 10 infections were in patients with orthopedic prostheses, which appears to be a risk factor. Three of the 14 strains were from transplant patients. For three of the patients, S. caprae was the only organism isolated. S. caprae may be misidentified because it is not represented in the current MicroScan or Vitek identification systems which are in use in many laboratories, but the organism can be differentiated by a few biochemical tests. S. caprae produces positive results for DNase, pyrrolidonyl aminopeptidase, and acid production from mannitol and maltose; it produces negative results for ornithine decarboxylase and tube coagulase.
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Enfermedades Óseas Infecciosas/microbiología , Artropatías/microbiología , Infecciones Relacionadas con Prótesis/microbiología , Infecciones Estafilocócicas/microbiología , Staphylococcus/clasificación , Adolescente , Adulto , Anciano , Técnicas de Tipificación Bacteriana , Enfermedades Óseas Infecciosas/complicaciones , Ácidos Grasos/análisis , Humanos , Artropatías/complicaciones , Pruebas de Sensibilidad Microbiana , Persona de Mediana Edad , Infecciones Relacionadas con Prótesis/complicaciones , Juego de Reactivos para Diagnóstico , Infecciones Estafilocócicas/complicaciones , Staphylococcus/aislamiento & purificaciónRESUMEN
Amikacin resistance, rare among nocardiae, was observed in 58 clinical isolates of nocardiae. All of these isolates hydrolyzed hypoxanthine, and 75 to 100% utilized citrate, D-galactose, and D-trehalose as sole carbon sources. Based on utilization of I-erythritol, D-glucitol, i-myo-inositol, D-mannitol, and ribitol and susceptibility to amoxicillin-clavulanic acid, the 58 isolates were separable into four groups. One group was negative for I-erythritol and ribitol and included all the isolates belonging to Nocardia asteroides complex antibiogram type IV. The remaining three groups were positive for I-erythritol and ribitol and were grouped within Nocardia transvalensis. The group that included the type strain was designated N. transvalensis sensu stricto, and the other two groups were designated new taxons 1 and 2. PCR-restriction fragment length polymorphism (RFLP) analysis of a 439-bp segment of the 65-kDa heat shock protein gene with XhoI and HinfI produced identical patterns for 53 (91%) and 58 (100%) isolates, respectively, and differentiated them from all other Nocardia taxa. NarI- and HaeIII-derived RFLP patterns clearly differentiated each of the four biochemically defined taxa. These four groups were also distinguishable by using the chromogenic substrates in Dade MicroScan test panels. By high-performance liquid chromatography, these isolates exhibited the same unique mycolic acid-ester elution patterns that differed from those of all other clinically significant nocardiae. Gas-liquid chromatographic analysis of fatty acids also produced similar patterns for all isolates that distinguished them from all other Nocardia taxa, but did not differentiate the four taxa within the complex. We propose the designation N. transvalensis complex for these four groups of nocardiae, pending further genetic evaluation.
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Amicacina/farmacología , Antibacterianos/farmacología , ADN Bacteriano/análisis , Nocardia/clasificación , Técnicas Bacteriológicas , Metabolismo de los Hidratos de Carbono , Cromatografía de Gases , Cromatografía Líquida de Alta Presión , Medios de Cultivo/metabolismo , Farmacorresistencia Microbiana , Ácidos Grasos/análisis , Pruebas de Sensibilidad Microbiana , Ácidos Micólicos/análisis , Nocardia/aislamiento & purificación , Nocardia/metabolismo , Filogenia , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Alcoholes del Azúcar/metabolismoRESUMEN
The fatty acid compositions of 39 type strains and 529 clinical or reference strains of pathogenic aerobic actinomycetes were analyzed after standardized culture by using the Microbial Identification System (MIS). Library entries for each type strain were created by using the MIS Library Generation Software, and the fatty acid profiles of clinical and reference strains were compared to these library entries. The bacteria separated into two large groups based upon major amounts of branched-chain or of saturated or monounsaturated straight-chain fatty acids. Identification of isolates was possible by using only the type strains for comparison, but fatty acid heterogeneity occurred within most species.
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Actinomycetaceae/química , Actinomycetaceae/clasificación , Ácidos Grasos/análisis , Actinomycetaceae/crecimiento & desarrollo , Actinomycetaceae/patogenicidad , Aerobiosis , Análisis por Conglomerados , Programas InformáticosRESUMEN
We characterized all of the 35 aerobic taxa of the genus Staphylococcus by using an objective, self-learning system combining both whole-cell fatty acid (FA) analysis and the results of 35 biochemical tests. Isolates were compared with the type strain for each taxon to generate an FA profile library and a biochemical table of test responses. Isolates were accepted into the system if they had a similarity index of > or = 0.6 for a taxon within the FA profile library and if they were identified as the same taxon by a computer program using a probability matrix constructed from the biochemical data. These stringent criteria led to acceptance of 1,117 strains assigned to legitimate taxa. Additional FA groups were assembled from selected strains that did not meet the inclusion criteria based on the type strains and were added to the system as separate entries. Currently, 1,512 isolates have bee accepted into the system. This approach has resulted in a comprehensive table of biochemical test results and a FA profile library, which together provide a practical system for valid identifications.
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Técnicas Bacteriológicas , Ácidos Grasos/análisis , Staphylococcus/química , Staphylococcus/clasificación , Aerobiosis , Animales , Técnicas de Tipificación Bacteriana , Bioquímica/métodos , Estudios de Evaluación como Asunto , Humanos , Especificidad de la EspecieRESUMEN
We extend flux ratio theorems concerning ratios of unidirectional flux transients passed (in complementary experiments) through a medium of spatially inhomogeneous transport properties pertaining to diffusion, migration and temporary trapping of the transported substance. Any nonlinearity in the transport equations leads to a breakdown of the Ussing flux ratio theorem pertaining to all times. An integrated flux ratio theorem is proved for the case when the nonlinearity is in the kinetics of trapping, as when trapping sites can be saturated. The new theorem is shown to fail when the nonlinearity is due to a concentration-dependence of the diffusion coefficient, as in facilitated transport. The nature of a nonlinearity in membrane transport can therefore be elucidated experimentally by the use of the integrated flux ratio.
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Transporte Biológico , Membranas/fisiología , Animales , Cinética , Matemática , Modelos BiológicosRESUMEN
Three patients with dominant anterior cerebral artery territory infarction demonstrated a severe disturbance of upper limb motor control with impaired bimanual coordination, the "alien hand" sign, and intermanual conflict, in addition to signs of callosal interruption and a transcortical motor aphasia. Recordings of movement-related potentials in one patient showed an attenuated Bereitschaftspotential and a greater asymmetry of the NS' component of the premotor negativity with left finger than with right finger movement. The impairment of bimanual motor control and associated abnormal motor behaviour of the right hand in these cases are postulated to be due to involvement of the supplementary motor area and related areas of the medial frontal cortex.
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Infarto Cerebral/fisiopatología , Dominancia Cerebral/fisiología , Lateralidad Funcional/fisiología , Desempeño Psicomotor/fisiología , Anciano , Apraxias/fisiopatología , Electroencefalografía , Potenciales Evocados , Femenino , Lóbulo Frontal/fisiopatología , Hemiplejía/fisiopatología , Humanos , Persona de Mediana Edad , Corteza Motora/fisiopatología , Tomografía Computarizada por Rayos XRESUMEN
Motor unit estimating techniques have been employed as part of a comprehensive electrophysiological survey of peripheral nerve and muscle in 20 patients with thyrotoxicosis. In all patients there was evidence of a loss of operational motor units; the selective nature of this involvement suggested that the motoneurone soma was the site of the primary lesion. The reversible nature of the postulated motoneurone dysfunction was demonstrated by the increased motor unit counts in six patients who were studied again after treatment of their thyrotoxicosis.