Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 8 de 8
Filtrar
1.
Parkinsonism Relat Disord ; 64: 293-299, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31103486

RESUMO

OBJECTIVE: To present five new McLeod Syndrome (MLS) pedigrees with novel XK gene mutations, review the literature of this disorder, and discuss the typical and atypical clinical features noted with these new mutations. METHODS: This is a multi-center retrospective review of five MLS cases with novel gene mutations. Genotypic and phenotypic information has been obtained from each center. RESULTS: Five novel mutations are reported in this Case series. New clinical findings include prolonged asymptomatic elevated creatine kinase (CK) levels, vocal tics, presence of obstructive sleep apnea (OSA), and one patient of Vietnamese ethnicity. CONCLUSIONS: We expand on the clinical and genetic spectrum of MLS demonstrating the clinical variability of MLS.


Assuntos
Sistemas de Transporte de Aminoácidos Neutros/genética , Neuroacantocitose/genética , Neuroacantocitose/fisiopatologia , Adulto , Comorbidade , Creatina Quinase/sangue , Europa (Continente) , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Neuroacantocitose/sangue , Neuroacantocitose/epidemiologia , Linhagem , Estudos Retrospectivos , Apneia Obstrutiva do Sono/epidemiologia , Vietnã
2.
Best Pract Res Clin Anaesthesiol ; 32(3-4): 303-309, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30522721

RESUMO

Pre-existing cognitive impairment is associated with poor surgical outcomes, long hospital stays, and increased morbidity and mortality. This necessitates the use of screening tools to evaluate preoperative cognitive status in elderly surgical patients. Given the growing population of older adults and increased prevalence of cognitive impairment, it is necessary to investigate whether staff-administered or self-administered cognitive screening examinations provide more sensitive information about pre-existing (preoperative) cognitive status. Self-administered Gerocognitive Screening Examination (SAGE) was developed out of the need for a cognitive self-assessment scale in the clinic. At our institution, SAGE was given to 189 elderly surgical patients to evaluate baseline cognitive status, and preliminary results are promising that self-assessment scales are both feasible and acceptable in the surgical setting.


Assuntos
Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/psicologia , Cognição , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/psicologia , Testes Neuropsicológicos , Assistência Perioperatória , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/psicologia , Autoavaliação (Psicologia) , Idoso , Idoso de 80 Anos ou mais , Transtornos Cognitivos/complicações , Humanos , Programas de Rastreamento , Resultado do Tratamento
3.
Neurology ; 47(6): 1403-9, 1996 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-8960718

RESUMO

Clinical criteria for dementia with Lewy bodies (DLB) have been proposed, but their formulation, reliability, and validity require further study. Pathologic criteria for DLB are also undergoing evolution. Two studies were conducted with the goal of identifying the components of these evolving criteria that may benefit from further refinement; one study evaluated the components of the clinical criteria and another study operationalized the pathologic criteria for DLB. Twenty-four patients with a premorbid diagnosis of probable or possible Alzheimer's disease (AD) (n = 18), Parkinson's disease (PD) (n = 5), or progressive supranuclear palsy (PSP) (n = 1) were studied. Inter-rater reliability and validity of the clinical criteria were determined by a retrospective chart review, done by five neurologists, and a blinded pathologic evaluation. The Consortium on dementia with Lewy bodies (CDLB) pathologic criteria were operationalized to compare past criteria and test the validity of the evolving clinical criteria on the dementia patients. Three or more cortical fields (at 250 x magnification) with many (four or more) Lewy bodies (LBs) on ubiquitin immunoreactive sections were required to meet the CDLB neocortical score of > 6. Fifteen of the AD patients had at least one LB in a cortical section, four had many LBs, while three had no LBs; all patients with movement disorder had at least one LB in a cortical section. The sensitivity/specificity ratio of the CDLB probable DLB clinical criteria based upon many LBs being present was 75%/79%. Reformulated clinical criteria that require the presence of extrapyramidal signs significantly predicted those patients with many LBs versus those with few or no LBs (chi 2 = 5.48, p = 0.02) and increased clinical specificity to 100%. This preliminary study identifies components of the evolving clinical and pathologic criteria for DLB that require further refinement.


Assuntos
Doença de Alzheimer/patologia , Corpos de Lewy/patologia , Idoso , Idoso de 80 Anos ou mais , Encéfalo/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes
4.
Ann Clin Lab Sci ; 25(3): 207-17, 1995.
Artigo em Inglês | MEDLINE | ID: mdl-7605102

RESUMO

Neurofibrillary tangles and dystrophic neurites are characteristic pathological features found in the brains of Alzheimer's disease (AD) patients. A major constituent of these lesions is the cytoskeletal protein tau. This study examined whether the measurement of tau in cerebral spinal fluid (CSF) has value in the diagnosis of AD. Seventy-seven subjects were enrolled in this prospective study: These included AD (N = 24), Neurological Controls (dementing diseases/syndromes, N = 26), Normal Controls (N = 14), and Others (N = 13). CSF was obtained by lumbar puncture, and tau concentrations (pg/mL) were determined using a dual monoclonal antibody microplate immunoassay. The mean tau value for AD subjects (1,430 +/- 739) was significantly different from Neurological Control subjects (790 +/- 579) (p < 0.001) and Normal Control subjects (816 +/- 355) (p < 0.001). Tau values were elevated in two Neurological Control subjects, one with Binswanger's disease (age 75) and one with depression (age 90). Tau values were also elevated in three Normal Control subjects; two were subjects with a family history of AD. Tau concentrations did not correlate significantly with age in AD subjects (r = 0.05, p = 0.82) or in Normal Control subjects (r = -0.49, p = 0.08). Tau also did not correlate with severity of cognitive impairment in AD subjects (r = -0.03, p = 0.91) or duration of AD symptoms (r = 0.16, p = 0.52). Based on these results and others, CSF levels of tau protein may provide a useful biochemical marker to aid in the clinical diagnosis of AD.


Assuntos
Doença de Alzheimer/líquido cefalorraquidiano , Proteínas tau/líquido cefalorraquidiano , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/diagnóstico , Biomarcadores/líquido cefalorraquidiano , Estudos de Casos e Controles , Feminino , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Emaranhados Neurofibrilares/química , Estudos Prospectivos
5.
Geriatrics ; 49(10): 14-6, 20-3, 1994 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-7926845

RESUMO

Parkinson's disease is a progressive neurodegenerative condition of unknown cause and with no known cure. The diagnosis is based on clinical findings of rest tremor, muscle rigidity, bradykinesia, and gait instability. Over 40% of patients develop a dementia syndrome that is largely distinct from Alzheimer's disease. Depression is common, also occurring in more than 40% of patients with PD. Careful evaluation in necessary to help distinguish Parkinson's disease from secondary causes of parkinsonism. Carbidopa/levodopa, dopamine agonists, and monoamine oxidase type B inhibitors are the mainstays of treatment. Anticholinergics and other agents may also be useful. Pharmacologic treatment must be carefully titrated to control symptoms and to avoid side effects. In advanced disease, dose-related dyskinesias, end-of-dose wearing-off effect, and unpredictable sudden motor fluctuations become very disabling and difficult to manage.


Assuntos
Antiparkinsonianos/uso terapêutico , Doença de Parkinson/diagnóstico , Doença de Parkinson/tratamento farmacológico , Idoso , Antiparkinsonianos/efeitos adversos , Carbidopa/efeitos adversos , Carbidopa/uso terapêutico , Antagonistas Colinérgicos/efeitos adversos , Antagonistas Colinérgicos/uso terapêutico , Diagnóstico Diferencial , Agonistas de Dopamina/efeitos adversos , Agonistas de Dopamina/uso terapêutico , Combinação de Medicamentos , Feminino , Humanos , Levodopa/efeitos adversos , Levodopa/uso terapêutico , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/etiologia , Doença de Parkinson/terapia
6.
Cortex ; 30(3): 445-57, 1994 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-7805385

RESUMO

A patient with left infero-medial occipital-temporal infarct suffered a visual agnosia that, by a minor change of the task, could be manipulated to optic aphasia. Tools in actual use and pantomimes of tool use were better named than stationary tools, a dissociation that suggests differences in the ability of stimuli to evoke associations over multiple modalities. Based on this case and analysis of previous reports we suggest that optic aphasia differs from visual agnosia primarily in the degree of callosal disconnection and that the preserved demonstration of tools use and semantic classification of optic aphasia reflect right hemisphere contribution to visual processing.


Assuntos
Agnosia/diagnóstico , Afasia de Wernicke/diagnóstico , Infarto Cerebral/diagnóstico , Dominância Cerebral , Reconhecimento Visual de Modelos , Desempenho Psicomotor , Idoso , Agnosia/fisiopatologia , Anomia/diagnóstico , Anomia/fisiopatologia , Afasia de Wernicke/fisiopatologia , Aprendizagem por Associação/fisiologia , Infarto Cerebral/fisiopatologia , Ponte de Artéria Coronária , Dominância Cerebral/fisiologia , Gestos , Humanos , Comportamento Imitativo/fisiologia , Masculino , Testes Neuropsicológicos , Lobo Occipital/fisiopatologia , Reconhecimento Visual de Modelos/fisiologia , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/fisiopatologia , Desempenho Psicomotor/fisiologia , Lobo Temporal/fisiopatologia , Tomografia Computadorizada por Raios X
7.
Am Fam Physician ; 41(4): 1145-52, 1990 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-2181831

RESUMO

Violent shaking causes severe injury in infants, but the diagnosis of shaken baby syndrome is often difficult to make because of the lack of obvious external signs. Consultations by other specialists may not be helpful, since the findings of most organ systems, taken in isolation, are usually nonspecific. Shaken baby syndrome should be considered in infants presenting with seizures, failure to thrive, vomiting associated with lethargy or drowsiness, hypothermia, bradycardia, hypertension or hypotension, respiratory irregularities, coma or death. Shaken babies are usually less than one year old, and most are under six months of age. Head injury (notably subdural hemorrhage) and retinal hemorrhages are the hallmarks of the syndrome.


Assuntos
Lesões Encefálicas/diagnóstico , Maus-Tratos Infantis/diagnóstico , Concussão Encefálica/etiologia , Lesões Encefálicas/etiologia , Hemorragia Cerebral/diagnóstico , Hemorragia Cerebral/etiologia , Feminino , Humanos , Lactente , Masculino , Relações Pais-Filho , Hemorragia Retiniana/etiologia , Convulsões/etiologia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...