RESUMEN
Classic Raymond syndrome is a rare neurological presentation comprising ipsilateral abducens palsy, contralateral facial paresis and contralateral hemiparesis. We present a man in his late 60s who presented with diplopia, dysarthria and right-sided limb weakness. This syndrome is one of a group of 'crossed paralyses' of the caudal pons.
Asunto(s)
Isquemia Encefálica , Parálisis Facial , Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Masculino , Humanos , Isquemia Encefálica/complicaciones , Isquemia Encefálica/diagnóstico por imagen , Accidente Cerebrovascular/complicaciones , Accidente Cerebrovascular/diagnóstico por imagen , Puente/diagnóstico por imagen , Parálisis Facial/diagnóstico , Parálisis Facial/etiología , Paresia/etiologíaRESUMEN
Genomic technologies such as next-generation sequencing (NGS) are revolutionizing molecular diagnostics and clinical medicine. However, these approaches have proven inefficient at identifying pathogenic repeat expansions. Here, we apply a collection of bioinformatics tools that can be utilized to identify either known or novel expanded repeat sequences in NGS data. We performed genetic studies of a cohort of 35 individuals from 22 families with a clinical diagnosis of cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS). Analysis of whole-genome sequence (WGS) data with five independent algorithms identified a recessively inherited intronic repeat expansion [(AAGGG)exp] in the gene encoding Replication Factor C1 (RFC1). This motif, not reported in the reference sequence, localized to an Alu element and replaced the reference (AAAAG)11 short tandem repeat. Genetic analyses confirmed the pathogenic expansion in 18 of 22 CANVAS-affected families and identified a core ancestral haplotype, estimated to have arisen in Europe more than twenty-five thousand years ago. WGS of the four RFC1-negative CANVAS-affected families identified plausible variants in three, with genomic re-diagnosis of SCA3, spastic ataxia of the Charlevoix-Saguenay type, and SCA45. This study identified the genetic basis of CANVAS and demonstrated that these improved bioinformatics tools increase the diagnostic utility of WGS to determine the genetic basis of a heterogeneous group of clinically overlapping neurogenetic disorders.
Asunto(s)
Ataxia Cerebelosa/etiología , Biología Computacional/métodos , Intrones , Repeticiones de Microsatélite , Polineuropatías/etiología , Proteína de Replicación C/genética , Trastornos de la Sensación/etiología , Enfermedades Vestibulares/etiología , Algoritmos , Ataxia Cerebelosa/patología , Estudios de Cohortes , Familia , Femenino , Genómica , Humanos , Masculino , Persona de Mediana Edad , Polineuropatías/patología , Trastornos de la Sensación/patología , Síndrome , Enfermedades Vestibulares/patología , Secuenciación Completa del GenomaRESUMEN
Decompressive hemicraniectomy (DHC) has been shown to reduce mortality in malignant middle cerebral artery (MCA) infarction. Our primary objective was to compare 1-year mortality between patients receiving DHC for malignant MCA infarction at our institution based on hospital of origin. We retrospectively reviewed the medical records of all patients treated for malignant MCA infarction with DHC at our institution over a 3-year period. One-year mortality rates and time to surgery were comparable regardless of whether the patient first attended the tertiary referral centre or a peripheral centre.
Asunto(s)
Craniectomía Descompresiva/estadística & datos numéricos , Hospitales/estadística & datos numéricos , Infarto de la Arteria Cerebral Media/cirugía , Adulto , Craniectomía Descompresiva/mortalidad , Femenino , Encuestas de Atención de la Salud , Humanos , Infarto de la Arteria Cerebral Media/mortalidad , Masculino , Persona de Mediana Edad , Ensayos Clínicos Controlados Aleatorios como Asunto , Estudios Retrospectivos , Resultado del Tratamiento , Adulto JovenRESUMEN
BACKGROUND: Telestroke uses videoconferencing technology to allow off-site experts to provide stroke thrombolysis decision support to less experienced front line clinicians. AIM: To assess the impact of a new telestroke service on thrombolysis rates and door-to-needle times in participating provincial hospitals and service resources to aid transition to a sustainable telestroke service. METHODS: This is a sequential comparison of 'pre' (December 2015 to May 2016) and 'post' (June 2016 to December 2016) implementation outcomes. The main outcomes were thrombolysis rate and door-to-needle time. All patient data were captured prospectively in a central database. Data captured and analysed also included technical problems, consumer and clinician feedback, and additional service resources required. RESULTS: Over the study period, 164 telestroke assessments were completed, including the 'hub' hospital. Among the participating provincial hospitals, 21 of 343 patients (6.1%) were thrombolysed in the 6-months prior to June 2016 and 50 of 318 patients (15.7%) during the 6-month following implementation of telestroke; odds ratio 2.86 (95% confidence interval 1.68-4.89); P = 0.0001. Overall, mean (standard deviation) regional hospital door-to-needle time reduced from 79.6 (31.4) to 62.7 (23.3) min (P = 0.015). Videoconferencing failure occurred in 4.8% of cases. Consumer and clinician feedback was positive. The main resource challenge was doubling of out-of-hours neurologist workload. CONCLUSION: Telestroke was associated with a significant increase in thrombolysis rate and reduction in door-to-needle time in provincial hospitals indicating improved patient care. Quantification of the extra neurologist workload allowed for a seamless transition to 'business as usual' using a novel annual subscription funding and service model.
Asunto(s)
Accidente Cerebrovascular/terapia , Telemedicina/normas , Terapia Trombolítica/normas , Tiempo de Tratamiento/normas , Comunicación por Videoconferencia/normas , Fibrinolíticos/administración & dosificación , Humanos , Proyectos Piloto , Estudios Prospectivos , Accidente Cerebrovascular/diagnóstico , Telemedicina/métodos , Terapia Trombolítica/métodos , Tiempo de Tratamiento/tendenciasRESUMEN
Distinguishing between generalized tonic-clonic seizures (GTCSs) and convulsive psychogenic nonepileptic seizures (PNESs) can be difficult at the bedside, and this distinction has important implications for patient care. This study used a fully blinded method to examine postictal breathing parameters to identify features distinguishing between generalized tonic-clonic seizures (GTCSs) and convulsive psychogenic nonepileptic seizures (PNESs). Three blinded readers examined edited video recordings of the postictal phase of 72 convulsive seizure episodes recorded from 56 patients. There were 59 GTCS episodes and 13 PNES episodes. Postictal breathing after a PNES episode was more rapid than after a GTCS episode and, thereafter, normalized more rapidly. Postictal breathing after a GTCS episode was more likely to be characterized by stertorous respirations. Postictal breathing after a PNES episode was very unlikely to be characterized by stertorous respirations. Postictal respiratory pattern can assist in discriminating between GTCS and convulsive PNES.
Asunto(s)
Trastornos Respiratorios/etiología , Convulsiones/complicaciones , Convulsiones/diagnóstico , Trastornos de Conversión/fisiopatología , Trastornos de Conversión/psicología , Electroencefalografía , Femenino , Humanos , Masculino , Trastornos Psicofisiológicos/diagnóstico , Trastornos Psicofisiológicos/psicología , Estudios Retrospectivos , Convulsiones/psicología , Grabación en VideoRESUMEN
We present a qualitative evaluation of a clinical orientation program for medical registrars within the Wellington region in New Zealand, designed and implemented by current advanced registrars. This program was intended to improve the transition from house officer to medical registrar. The program was qualitatively evaluated using focus groups comprising participants, presenters and senior nursing staff. Purposive samples were drawn from each of these groups. The most significant finding was the perception of enhanced professional collegiality among medical staff. There were benefits to participants and presenters with improved communication between medical registrars. We believe there are individual, institutional and patient care benefits with a region-specific, clinical orientation for new medical registrars.
Asunto(s)
Capacitación en Servicio/organización & administración , Cuerpo Médico de Hospitales/educación , Movilidad Laboral , Grupos Focales , Humanos , Nueva ZelandaRESUMEN
OBJECTIVE: EpiNet was established to encourage epilepsy research. EpiNet is used for multicenter cohort studies and investigator-led trials. Physicians must be accredited to recruit patients into trials. Here, we describe the accreditation process for the EpiNet-First trials. METHODS: Physicians with an interest in epilepsy were invited to assess 30 case scenarios to determine the following: whether patients have epilepsy; the nature of the seizures (generalized, focal); and the etiology. Information was presented in two steps for 23 cases. The EpiNet steering committee determined that 21 cases had epilepsy. The steering committee determined by consensus which responses were acceptable for each case. We chose a subset of 18 cases to accredit investigators for the EpiNet-First trials. We initially focused on 12 cases; to be accredited, investigators could not diagnose epilepsy in any case that the steering committee determined did not have epilepsy. If investigators were not accredited after assessing 12 cases, 6 further cases were considered. When assessing the 18 cases, investigators could be accredited if they diagnosed one of six nonepilepsy patients as having possible epilepsy but could make no other false-positive errors and could make only one error regarding seizure classification. RESULTS: Between December 2013 and December 2014, 189 physicians assessed the 30 cases. Agreement with the steering committee regarding the diagnosis at step 1 ranged from 47% to 100%, and improved when information regarding tests was provided at step 2. One hundred five of the 189 physicians (55%) were accredited for the EpiNet-First trials. The kappa value for diagnosis of epilepsy across all 30 cases for accredited physicians was 0.70. SIGNIFICANCE: We have established criteria for accrediting physicians using EpiNet. New investigators can be accredited by assessing 18 case scenarios. We encourage physicians with an interest in epilepsy to become EpiNet-accredited and to participate in these investigator-led clinical trials.
Asunto(s)
Adhesión a Directriz/estadística & datos numéricos , Enfermedades del Sistema Nervioso/etiología , Pautas de la Práctica en Medicina/estadística & datos numéricos , Deficiencia de Vitamina B 12/diagnóstico , Vitamina B 12/sangre , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores/sangre , Auditoría Clínica , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neurología , Nueva Zelanda , Guías de Práctica Clínica como Asunto , Pautas de la Práctica en Medicina/normas , Centros de Atención Terciaria , Deficiencia de Vitamina B 12/sangre , Deficiencia de Vitamina B 12/complicacionesRESUMEN
AIMS: This study investigated the demographic and disease characteristics of motor neurone disease (MND), as well as specific aspects of healthcare provision for MND patients in the greater Wellington region. METHODS: Data was collected from clinical records of all known patients with a diagnosis of Motor Neurone Disease MND in the Capital and Coast and Hutt Valley district health board catchment zones over a 12-month period. Survival data was collected at 2-year follow-up. RESULTS: The study population consisted of 40 patients. The mean age at diagnosis was 66.2 years (SD of 13.2). Thirty patients (75%) were New Zealand European. Predominantly limb signs were present in 12 (30%), and 11 (27.5%) had bulbar signs, while 14 (35%) had a mixed pattern and a further 3 (7.5%) had respiratory muscle weakness. At 2-year follow-up, the median survival time following symptom onset in the 32 deceased patients was 29 months (range 6-126 months). CONCLUSIONS: The demographics and disease characteristics of MND in this cohort of patients from the Wellington region is similar to those found in overseas studies. The majority of patients received care in accordance with established guidelines, although certain aspects of healthcare delivery could be further improved.
Asunto(s)
Enfermedad de la Neurona Motora/epidemiología , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Nueva Zelanda/epidemiología , Sistema de Registros , Tasa de SupervivenciaAsunto(s)
Hemorragia Traumática del Tronco Encefálico/diagnóstico , Hematoma Intracraneal Subdural/diagnóstico , Nistagmo Patológico/etiología , Oftalmoplejía/etiología , Tronco Encefálico/diagnóstico por imagen , Hemorragia Traumática del Tronco Encefálico/etiología , Hemorragia Traumática del Tronco Encefálico/rehabilitación , Femenino , Hematoma Intracraneal Subdural/complicaciones , Hematoma Intracraneal Subdural/cirugía , Humanos , Imagen por Resonancia Magnética , Persona de Mediana EdadRESUMEN
AIM: We wanted to determine whether adult patients presenting with a seizure to the emergency department (ED) of Wellington Hospital and Hutt Hospital, in the Wellington region, were equally likely to be referred for neurology input. METHODS: A retrospective review was conducted of 250 consecutive patients presenting with a seizure to the ED of each hospital. Patient electronic records were examined to determine the proportion of patients discussed with the inpatient neurology team and referred to neurology outpatient clinic. RESULTS: Fifty-two per cent of the patients presenting to Wellington Hospital ED with a seizure were referred to neurology, compared to 13.4% of those presenting to Hutt Hospital ED. The proportion of 'first seizure' patients referred to neurology was 63.1% for Wellington Hospital and 9.8% for Hutt Hospital. The difference in referral rates was primarily attributable to the difference in inpatient referrals. Maori were over-represented in the patients presenting to ED with a seizure, compared to their population composition. CONCLUSIONS: This study demonstrated unequal referral practices and therefore provision of neurology care for adult seizure patients across the Wellington region, for patients with established epilepsy and those with a first seizure. There were a disproportionately high number of Maori accessing acute seizure care.
Asunto(s)
Manejo de la Enfermedad , Servicio de Urgencia en Hospital/estadística & datos numéricos , Pacientes Internos , Derivación y Consulta , Convulsiones/terapia , Adolescente , Adulto , Registros Electrónicos de Salud , Femenino , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Nueva Zelanda/epidemiología , Estudios Retrospectivos , Convulsiones/epidemiologíaRESUMEN
We describe the first case of food-borne botulism seen in New Zealand for 30 years. Botulism is an important diagnosis to consider in a patient with rapidly progressive descending paralysis and normal sensorium. Early recognition, timely institution of intensive care support and administration of botulism antitoxin are the most important aspects of management.
Asunto(s)
Potenciales de Acción/fisiología , Botulismo/diagnóstico , Músculo Esquelético/fisiopatología , Botulismo/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Nueva Zelanda , Recuperación de la FunciónRESUMEN
Drug-induced subacute cutaneous lupus is a very rare adverse reaction to medications. This case report describes onset of this condition caused by Interferon beta-1a, which has been rarely reported previously.
Asunto(s)
Interferón beta/efectos adversos , Lupus Eritematoso Cutáneo/inducido químicamente , Adulto , Diagnóstico Diferencial , Femenino , Humanos , Interferón beta-1a , Interferón beta/administración & dosificación , Lupus Eritematoso Cutáneo/diagnósticoRESUMEN
Positional vomiting is an important alerting sign for the presence of a brainstem central nervous system (CNS) lesion. Failure to identify another cause of protracted vomiting should prompt consideration of a CNS cause.