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4.
J Autism Dev Disord ; 53(8): 3151-3179, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35637365

RESUMEN

The purpose of this paper was to determine whether recommendations made by King & Murphy (Journal of Autism and Developmental Disorders 44:2717-2733, 2014) in their review of the evidence on autistic people in contact with the criminal justice system (CJS) have been addressed. Research published since 2013 was systematically examined and synthesised. The quality of 47 papers was assessed using the Mixed Methods Appraisal Tool. Findings suggest a limited amount of good quality research has been conducted that has focused on improving our understanding of autistic people in contact with the CJS since 2013. Methodological limitations make direct comparisons between autistic and non-autistic offenders difficult. Autistic people commit a range of crimes and appear to have unique characteristics that warrant further exploration (i.e., vulnerabilities, motivations for offending).


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Criminales , Humanos , Derecho Penal , Crimen
6.
J Small Anim Pract ; 63(2): 104-112, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34791652

RESUMEN

OBJECTIVES: A previous single-country pilot study indicated serum anti-GM2 and anti-GA1 anti-glycolipid antibodies as potential biomarkers for acute canine polyradiculoneuritis. This study aims to validate these findings in a large geographically heterogenous cohort. MATERIALS AND METHODS: Sera from 175 dogs clinically diagnosed with acute canine polyradiculoneuritis, 112 dogs with other peripheral nerve, cranial nerve or neuromuscular disorders and 226 neurologically normal dogs were screened for anti-glycolipid antibodies against 11 common glycolipid targets to determine the immunoglobulin G anti-glycolipid antibodies with the highest combined sensitivity and specificity for acute canine polyradiculoneuritis. RESULTS: Anti-GM2 anti-glycolipid antibodies reached the highest combined sensitivity and specificity (sensitivity: 65.1%, 95% confidence interval 57.6 to 72.2%; specificity: 90.2%, 95% confidence interval 83.1 to 95.0%), followed by anti-GalNAc-GD1a anti-glycolipid antibodies (sensitivity: 61.7%, 95% confidence interval 54.1 to 68.9%; specificity: 89.3%, 95% confidence interval 82.0 to 94.3%) and these anti-glycolipid antibodies were frequently present concomitantly. Anti-GA1 anti-glycolipid antibodies were detected in both acute canine polyradiculoneuritis and control animals. Both for anti-GM2 and anti-GalNAc-GD1a anti-glycolipid antibodies, sex was found a significantly associated factor with a female to male odds ratio of 2.55 (1.27 to 5.31) and 3.00 (1.22 to 7.89), respectively. Anti-GalNAc-GD1a anti-glycolipid antibodies were more commonly observed in dogs unable to walk (OR 4.56, 1.56 to 14.87). CLINICAL SIGNIFICANCE: Anti-GM2 and anti-GalNAc-GD1a immunoglobulin G anti-glycolipid antibodies represent serum biomarkers for acute canine polyradiculoneuritis.


Asunto(s)
Enfermedades de los Perros , Polirradiculoneuropatía , Animales , Biomarcadores , Enfermedades de los Perros/diagnóstico , Perros , Femenino , Gangliósido G(M2) , Humanos , Inmunoglobulina G , Masculino , Proyectos Piloto , Polirradiculoneuropatía/diagnóstico , Polirradiculoneuropatía/veterinaria
8.
J Small Anim Pract ; 61(2): 110-115, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31763696

RESUMEN

OBJECTIVES: To assess the utility of the Idexx ProCyte Dx® haematology analyser for assessing total nucleated cell count and differential cell counts in canine cerebrospinal fluid. MATERIALS AND METHODS: Seventy-three client-owned dogs undergoing investigations for pyrexia and/or neurological signs were prospectively included. Cerebrospinal fluid samples were assessed using an Idexx ProCyte Dx® analyser and the results were compared to those obtained with the external laboratory reference standard. RESULTS: The Idexx ProCyte Dx® performed with good sensitivity (92.6%) and moderate specificity (67.4%) for total nucleated cell count when compared to the reference standard. Qualitative assessment of the Idexx ProCyte Dx® scatter plots, and quantitative assessment of differential cell counts where available, appeared to correlate well with the external laboratory manual differential cell counts, with a good-to-high agreement in 25 of 26 samples (96.2%). CLINICAL SIGNIFICANCE: The Idexx ProCyte Dx® analyser performed well in determining the total nucleated cell count and differential cell counts in canine cerebrospinal fluid when compared to a reference standard of external laboratory analysis, except for cell counts higher than ~1000/µL. As the Idexx ProCyte Dx® currently only provides a cell count in 10 cells/µL increments, software modification may improve agreement between the two methods. As in human medicine, automated methods may prove useful in the future for cerebrospinal fluid analysis in addition to manual assessment, particularly in an emergency setting.


Asunto(s)
Programas Informáticos , Animales , Recuento de Células/veterinaria , Perros , Sensibilidad y Especificidad
10.
J Vet Intern Med ; 31(4): 1149-1158, 2017 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-28543780

RESUMEN

BACKGROUND: Intranasal administration of benzodiazepines has shown superiority over rectal administration for terminating emergency epileptic seizures in human trials. No such clinical trials have been performed in dogs. OBJECTIVE: To evaluate the clinical efficacy of intranasal midazolam (IN-MDZ), via a mucosal atomization device, as a first-line management option for canine status epilepticus and compare it to rectal administration of diazepam (R-DZP) for controlling status epilepticus before intravenous access is available. ANIMALS: Client-owned dogs with idiopathic or structural epilepsy manifesting status epilepticus within a hospital environment were used. Dogs were randomly allocated to treatment with IN-MDZ (n = 20) or R-DZP (n = 15). METHODS: Randomized parallel-group clinical trial. Seizure cessation time and adverse effects were recorded. For each dog, treatment was considered successful if the seizure ceased within 5 minutes and did not recur within 10 minutes after administration. The 95% confidence interval was used to detect the true population of dogs that were successfully treated. The Fisher's 2-tailed exact test was used to compare the 2 groups, and the results were considered statistically significant if P < .05. RESULTS: IN-MDZ and R-DZP terminated status epilepticus in 70% (14/20) and 20% (3/15) of cases, respectively (P = .0059). All dogs showed sedation and ataxia. CONCLUSIONS AND CLINICAL IMPORTANCE: IN-MDZ is a quick, safe and effective first-line medication for controlling status epilepticus in dogs and appears superior to R-DZP. IN-MDZ might be a valuable treatment option when intravenous access is not available and for treatment of status epilepticus in dogs at home.


Asunto(s)
Anticonvulsivantes/uso terapéutico , Diazepam/uso terapéutico , Enfermedades de los Perros/tratamiento farmacológico , Midazolam/uso terapéutico , Estado Epiléptico/veterinaria , Administración Intranasal/veterinaria , Administración Rectal , Animales , Anticonvulsivantes/administración & dosificación , Anticonvulsivantes/efectos adversos , Diazepam/administración & dosificación , Diazepam/efectos adversos , Perros , Femenino , Masculino , Midazolam/administración & dosificación , Midazolam/efectos adversos , Estado Epiléptico/tratamiento farmacológico
11.
Vet J ; 203(1): 129-30, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25475164

RESUMEN

A questionnaire-based study was used to investigate the association between the findings on magnetic resonance imaging (MRI) screening for syringomyelia (SM) in 79 asymptomatic Cavalier King Charles spaniels (CKCS) and the subsequent development of clinical signs consistent with SM in later life. Owners reported clinical signs consistent with SM in 13/79 (16%) dogs at the time of the questionnaire. A significantly greater proportion of CKCS with a syrinx visible on MRI screening showed clinical signs in later life (9/25, 36%) than dogs without a visible syrinx (4/54, 7%; odds ratio 6.9). Whether the findings of MRI screening can be used to indicate the likelihood of an asymptomatic CKCS developing clinical signs consistent with SM in later life warrants further prospective study in a larger cohort of dogs.


Asunto(s)
Enfermedades de los Perros/diagnóstico , Imagen por Resonancia Magnética/veterinaria , Siringomielia/veterinaria , Animales , Recolección de Datos , Enfermedades de los Perros/patología , Perros , Oportunidad Relativa , Factores de Riesgo , Encuestas y Cuestionarios , Siringomielia/diagnóstico
12.
Vet J ; 202(2): 267-73, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25241946

RESUMEN

This retrospective case series examined the effectiveness of spinal segmental stabilisation, with or without decompression, in nine dogs with neurological deficits associated with dorsal hemivertebrae. Data on signalment, preoperative neurological status, imaging findings, surgical techniques and outcome were evaluated. All cases occurred in young or adult, small-breed dogs with neurological signs ranging from progressive moderate pelvic limb ataxia to non-ambulatory paraparesis. Six dogs also showed urinary and faecal incontinence. In each dog, one or more dorsal thoracic hemivertebra(e) were detected by radiography and MRI. In all dogs, hemivertebra(e) were associated with kyphosis and reduced vertebral canal diameter. All dogs were surgically managed with spinal segmental stabilisation, using Steinmann pins and orthopaedic wires and/or sutures attached to the spinous processes. Three dogs also underwent additional decompressive surgery. Post-operative follow-up ranged from 1.5 to 5.5 years. Immediate or delayed post-operative complications occurred in three dogs, including implant migration or loosening. Eight dogs showed long-term gait improvement, with resolution of incontinence if previously present. At 2-6 years post-surgery, four dogs were neurologically normal, three had mild residual ataxia, one had moderate ambulatory paraparesis, and one dog relapsed 3.5 years after surgery, resulting in severe paraparesis. Spinal segmental stabilisation techniques, with or without decompression, can result in satisfactory outcomes in small dogs with hemivertebrae and mild to moderate neurological signs. Further adaptations might be required to avoid implant loosening and allow continued growth in immature dogs.


Asunto(s)
Enfermedades de los Perros/cirugía , Cifosis/veterinaria , Complicaciones Posoperatorias/veterinaria , Vértebras Torácicas/cirugía , Animales , Perros , Femenino , Cifosis/cirugía , Masculino , Estudios Retrospectivos , Resultado del Tratamiento
13.
J Vet Intern Med ; 28(2): 522-8, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24467361

RESUMEN

BACKGROUND: No evidence-based guidelines are available for the administration of gadolinium-based contrast media to veterinary patients. OBJECTIVE: To investigate whether administration of intravenous (IV) contrast media alters the likelihood of identifying a brain lesion in dogs and cats. ANIMALS: Four hundred and eighty-seven client-owned animals referred for investigation of intracranial disease. METHODS: Two reviewers retrospectively analyzed precontrast transverse and sagittal T1-weighted (T1W), T2-weighted, and fluid-attenuated inversion recovery low-field MRI sequences from each patient for the presence of a clinically relevant brain lesion. All sequences subsequently were reviewed in the same manner with additional access to postcontrast T1W images. RESULTS: Of the 487 precontrast MRI studies, 312 were judged to be normal by 1 or both reviewers. Of these 312 studies, a previously undetected lesion was identified in only 6 cases (1.9%) based on changes observed on postcontrast sequences. Final diagnoses included meningoencephalitis of unknown origin (n = 1), feline infectious peritonitis (n = 1), and neoplasia (n = 2). All 4 of these cases had persistent neurological deficits suggestive of an underlying brain lesion. Contrast enhancement observed in the 2 other cases was considered falsely positive based on the results of further investigations. CONCLUSIONS AND CLINICAL IMPORTANCE: In patients with normal neurological examination and normal precontrast MRI, the subsequent administration of IV gadolinium-based contrast media is highly unlikely to disclose a previously unidentified lesion, calling into question the routine administration of contrast media to these patients. However, administration still should be considered in animals with persistent neurological deficits suggestive of an underlying inflammatory or neoplastic brain lesion.


Asunto(s)
Encefalopatías/veterinaria , Enfermedades de los Gatos/diagnóstico , Medios de Contraste , Enfermedades de los Perros/diagnóstico , Imagen por Resonancia Magnética/veterinaria , Neuroimagen/veterinaria , Administración Intravenosa/veterinaria , Animales , Encéfalo/patología , Encefalopatías/diagnóstico , Gatos , Medios de Contraste/administración & dosificación , Perros , Femenino , Gadolinio/administración & dosificación , Imagen por Resonancia Magnética/métodos , Masculino , Neuroimagen/métodos , Estudios Retrospectivos
14.
Clin Genet ; 74(3): 213-22, 2008 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-18684116

RESUMEN

The neuronal ceroid lipofuscinoses (NCLs) are the commonest neurodegenerative disorders of children. The aims of this study were to determine the incidence of NCL in Newfoundland, identify the causative genes, and analyze the relationship between phenotype and genotype. Patients with NCL diagnosed between 1960 and 2005 were ascertained through the provincial genetics and pediatric neurology clinics. Fifty-two patients from 34 families were identified. DNA was obtained from 28/34 (82%) families; 18 families had mutations in the CLN2 gene, comprising five different mutations of which two were novel. One family had a CLN3 mutation, another had a novel mutation in CLN5, and five families shared the same mutation in CLN6. One family was misdiagnosed, and in two, molecular testing was inconclusive. Disease from CLN2 mutations had an earlier presentation (p = 0.003) and seizure onset (p < 0.001) compared with CLN6 mutation. There was a slower clinical course for those with CLN5 mutation compared with CLN2 mutation. NCL in Newfoundland has a high incidence, 1 in 7353 live births, and shows extensive genetic heterogeneity. The incidence of late infantile NCL, 9.0 per 100,000 (or 1 in 11,161) live births, is the highest reported in the world.


Asunto(s)
Lipofuscinosis Ceroideas Neuronales/epidemiología , Lipofuscinosis Ceroideas Neuronales/genética , Adolescente , Aminopeptidasas , Niño , Preescolar , Análisis Mutacional de ADN , Dipeptidil-Peptidasas y Tripeptidil-Peptidasas , Endopeptidasas/genética , Familia , Femenino , Heterogeneidad Genética , Genotipo , Humanos , Proteínas de Membrana de los Lisosomas , Masculino , Proteínas de la Membrana/genética , Lipofuscinosis Ceroideas Neuronales/diagnóstico , Terranova y Labrador/epidemiología , Fenotipo , Serina Proteasas , Tripeptidil Peptidasa 1
15.
Clin Genet ; 71(4): 311-9, 2007 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-17470132

RESUMEN

Congenital indifference to pain (CIP) is a rare condition in which patients have severely impaired pain perception, but are otherwise essentially normal. We identified and collected DNA from individuals from nine families of seven different nationalities in which the affected individuals meet the diagnostic criteria for CIP. Using homozygosity mapping and haplotype sharing methods, we narrowed the CIP locus to chromosome 2q24-q31, a region known to contain a cluster of voltage-gated sodium channel genes. From these prioritized candidate sodium channels, we identified 10 mutations in the SCN9A gene encoding the sodium channel protein Nav1.7. The mutations completely co-segregated with the disease phenotype, and nine of these SCN9A mutations resulted in truncation and loss-of-function of the Nav1.7 channel. These genetic data further support the evidence that Nav1.7 plays an essential role in mediating pain in humans, and that SCN9A mutations identified in multiple different populations underlie CIP.


Asunto(s)
Mutación , Insensibilidad Congénita al Dolor/genética , Canales de Sodio/genética , Mapeo Cromosómico , Cromosomas Humanos Par 2/genética , Codón sin Sentido , Análisis Mutacional de ADN , Femenino , Efecto Fundador , Mutación del Sistema de Lectura , Genética de Población , Haplotipos , Humanos , Masculino , Canal de Sodio Activado por Voltaje NAV1.7 , Linaje , Eliminación de Secuencia
16.
Am J Med Genet A ; 131(3): 249-54, 2004 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-15523628

RESUMEN

A distinctive slowly progressive neurodegenerative disorder, which falls under a new category of neurological diseases, the hereditary spastic ataxias (HSA), is described in three independently ascertained Newfoundland kindreds. HSA is a heterogeneous group of disorders in which pyramidal tract features overlap cerebellar characteristics. The families are assumed to have the same condition as, although apparently unrelated, all originate in a historically isolated cluster of rural communities and link to the same locus at 12p13, SAX1. Clinically the phenotype is very variable but lower limb hypertonicity and hyperreflexia are early and prominent generally preceded by eye movement abnormality, an impaired vertical downward saccade and a typical involuntary head jerk. These are followed by variable levels of ataxia, dysarthria, and dysphagia. Onset occurs in the first two decades and can be detected in most by early adulthood. Significant mobility problems are present by the fourth decade with a broad based ataxic and spastic gait. MRI scans of brain and spinal cord were normal. Neuropathology showed degeneration of corticospinal tracts and posterior columns and midbrain neuronal loss. The phenotype is striking in its diversity among and within families and the variability of expression can be observed within the same sibship. Pedigree analysis shows no evidence of anticipation or any sex differences in severity. The condition is unusually prevalent in the province of Newfoundland, which is characteristic of a founder effect followed by isolation and large family size. Fine mapping efforts have reduced the critical interval of the SAX1 locus to 1.9Mb. Identification of the SAX1 gene will help to clarify the pathogenesis of this type of HSA.


Asunto(s)
Efecto Fundador , Oftalmoplejía/genética , Degeneraciones Espinocerebelosas/genética , Secuencia de Bases , Cartilla de ADN , Femenino , Genes Dominantes , Humanos , Masculino , Terranova y Labrador , Linaje
17.
Pflugers Arch ; 445(5): 614-21, 2003 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-12634934

RESUMEN

We describe the actions of 2,3-butanedione monoxime (BDM) on calcium responses in secretory cells. Our studies were prompted by the widespread use of BDM as a myosin-ATPase inhibitor. Application of 10 mM BDM almost completely inhibited agonist-evoked amylase secretion from mouse pancreatic acinar cells. This action might be interpreted as indicating a role for myosin in secretion. However, BDM alone elicited a calcium response in single cells and this calcium signal was sufficient to activate calcium-dependent chloride currents. Furthermore, in some cases, BDM potentiated agonist-evoked calcium signals but almost always blocked agonist-evoked calcium oscillations. These effects of BDM were not due to an action on calcium influx pathways but rather to direct effects on IP(3)-sensitive stores. We conclude that BDM cannot be used for unequivocal identification of the involvement of myosin motors in a cellular response. Further, our evidence suggests that BDM can act directly to modify the opening of IP(3) receptors.


Asunto(s)
Calcio/metabolismo , Diacetil/análogos & derivados , Diacetil/farmacología , Inhibidores Enzimáticos/farmacología , Inositol 1,4,5-Trifosfato/fisiología , Páncreas/metabolismo , Acetilcolina/farmacología , Animales , Animales no Consanguíneos , Calcio/fisiología , Electrofisiología , Membranas Intracelulares/metabolismo , Masculino , Ratones , Miosinas/antagonistas & inhibidores , Oscilometría , Concentración Osmolar , Páncreas/citología , Páncreas/efectos de los fármacos , Técnicas de Placa-Clamp
19.
Am J Hum Genet ; 70(3): 763-9, 2002 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-11774073

RESUMEN

The hereditary spastic ataxias (HSA) are a group of clinically heterogeneous neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia. HSA was diagnosed in three unrelated autosomal dominant families from Newfoundland, who presented mainly with severe leg spasticity, dysarthria, dysphagia, and ocular-movement abnormalities. A genomewide scan was performed on one family, and linkage to a novel locus for HSA on chromosome 12p13, which contains the as-yet-unidentified gene locus SAX1, was identified. Fine mapping confirmed linkage in the two large families, and the third, smaller family showed LOD scores suggestive of linkage. Haplotype construction by use of 13 polymorphic markers revealed that all three families share a disease haplotype, which key recombinants and overlapping haplotypes refine to about 5 cM, flanked by markers D12S93 and GATA151H05. SAX1 is the first locus mapped for autosomal dominant HSA.


Asunto(s)
Ataxia/genética , Cromosomas Humanos Par 12/genética , Genes Dominantes/genética , Ataxia/fisiopatología , Mapeo Cromosómico , Femenino , Haplotipos/genética , Humanos , Pierna/fisiopatología , Escala de Lod , Masculino , Terranova y Labrador , Trastornos de la Motilidad Ocular/genética , Linaje , Polimorfismo Genético/genética , Recombinación Genética/genética
20.
J Behav Health Serv Res ; 28(4): 412-26, 2001 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-11732244

RESUMEN

Substance-specific services are tailored to address the inappropriate use of chemicals such as alcohol and marijuana. Unfortunately, few teens ever access such need-based services. This article explores the paths to substance-specific service use in a sample of urban adolescents who are public service sector users: a direct path from substance misuse and an indirect path from general mental health service use. Results indicate that even though a significant percentage of youths frequently consume substances and display negative use-related behaviors, few actually received substance-specific services. Contributors to the substance misuse path included youths' family substance dependence and environmental stressors. Contributors to the mental health services path were comorbid depression and substance misuse.


Asunto(s)
Trastornos Mentales/epidemiología , Estrés Psicológico/complicaciones , Centros de Tratamiento de Abuso de Sustancias/estadística & datos numéricos , Trastornos Relacionados con Sustancias/epidemiología , Población Urbana/estadística & datos numéricos , Adolescente , Comorbilidad , Relaciones Familiares , Femenino , Humanos , Estudios Longitudinales , Masculino , Trastornos Mentales/rehabilitación , Sector Público/estadística & datos numéricos , Medición de Riesgo , Medio Social , Trastornos Relacionados con Sustancias/rehabilitación , Estados Unidos
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