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Biomedical subjects

R Mayeux

Publications and source records attributed to R Mayeux.

225 records · Page 13Linked to original sources

Phantom limb and multiple sclerosis.

Phantom limb phenomena are most often associated with amputations, although they may accompany many neurologic disorders. In the neurologic variety, expression of illusory limbs varies with the level at which the somesthetic pathway is interrupted, and with changes in consciousness. Phantom limb illusions are rarely reported in patients with multiple sclerosis (MS). The patient reported here complained of a supernumerary phantom limb during an exacerbation of MS. This case suggests that in neurologic diseases, phantom limb illusions may result from distorted perception of limbs that are subject to both sensory loss and such recurrent spontaneous sensations as paresthesias.

Adult↗

Strokes and ulcerative colitis.

One adolescent and two young adults had ulcerative colitis and cerebral thrombosis. All survived with neurologic deficit. These patients had no other predisposing factor for cerebrovascular disease. Systemic arterial and venous thromboembolic complications occur often in ulcerative colitis, but stroke is uncommon. Abnormalities in the early stages of clotting may be responsible, and the risk of thromboembolic phenomena in young patients seems to increase with exacerbations of this form of chronic inflammatory bowel disease, and possibly with regional enteritis as well.

Adolescent↗

Cerebral cysticercosis.

Five patients with cerebral cysticercosis, two within the year preceding the date of this article, were seen at the New York Neurological Institute. The patients presented with mental changes, seizures, and symptoms of increased intracranial pressure, and had a history of having immigrated from an area endemic for cysticercosis. They were found to have parenchymal or intraventricular cysticercosis cysts. The interval from immigration to onset of symptoms was as long as 3 years. Plain radiograms of the skull and soft tissues, ventriculograms, and especially the CT scan, as well as the CSF examination, were useful in making the diagnosis. Surgical removal of an intraventricular cyst was curative in two patients and seizures were controlled with anticonvulsants in the other three.

Adult↗

Complex partial status epilepticus: case report and proposal for diagnostic criteria.

A child had complex partial status epilepticus after resection of a craniopharyngioma. The status epilepticus was manifested by confusion and documented electroencephalographically by continuous focal seizure patterns in the right temporal region. Complex partial status epilepticus is an electroclinical syndrome of prolonged or repetitive complex partial seizures (with continuous interictal confusion) accompanied by electroencephalographic seizure patterns, which are either focal (usually temporal lobe) or secondarily generalized from a focal pacemaker.

Child, Preschool↗

Lipid storage myopathy, ichthyosis, and steatorrhea.

A 41-year-old man had ichtyrosis, ectropion, steatorrhea, and slowly progressive proximal limb weakness. Biopsies showed abnormal lipid accumulation in muscle, liver skin, leukocytes, and gastric mucosa. Lipid storage was particularly marked in cultures of skin and muscle, and it increased in subsequent cell generations. By electron microscopy, the lipid globules showed no limiting membranes. The stored lipid was identified by thin-layer chromatography as triglyceride; there was no excess of cholesterol or cholesteryl esters. Muscle carnitine concentration and activities of carnitine palmityltransferase and acid lipase were normal; 14CO2 production from labeled palmitate in leukocytes was not impaired. The excessive accumulation of triglyceride in different tissues and in the progeny of cells in tissue culture suggests a genetic error of lipid metabolism.

Adult↗

Psychosis, behavioral disturbance, and the use of neuroleptics in dementia.

Despite the widespread use of psychotropic agents in patients with dementia, there is little available research on the nature and prevalence of psychiatric disturbance and behavioral syndromes requiring this treatment, and the results of such therapy. The authors suggest strategies to overcome difficulties inherent in attempting to obtain symptom profiles in demented patients. There is weak evidence to support the use of neuroleptics in the treatment of symptoms like suspiciousness, hallucinations, sleeplessness, agitation, emotional liability, and aggressiveness; no individual neuroleptic can be considered superior to any other for this purpose. Few studies have evaluated the effect of neuroleptics on activities of daily life (ADL), and no study has used detailed neurophsychological evaluation to examine their effects on cognitive function in dementia.

Activities of Daily Living↗

Memory performance in healthy elderly without Alzheimer's disease: effects of time and apolipoprotein-E.

Transgenic mice expressing human APOE-epsilon4 develop an age-dependent decline in memory without pathological features of Alzheimer's disease (AD). This implicates APOE in the maintenance of memory during normal senescence, but parallel human studies are limited because longitudinal investigations of memory usually do not exclude patients with AD or "questionable" AD (QD). The current study examined the effect of APOE on cognitive function over time in elderly without dementia. We hypothesized that, compared to other APOE alleles memory decline even in healthy elderly would be greater among those with an APOE-epsilon4. The results of neuropsychological tests, grouped into domains of memory, language and visuospatial/cognitive function by factor analysis, were examined at three intervals over a seven-year period in 563 healthy elderly without AD or QD using generalized estimating equations. Memory performance declined over time, while scores on the visuospatial/cognitive and language factors did not change. Increased age was associated with lower scores, and higher education with higher scores on all factors at each interval. No APOE allele was associated with performance on a specific cognitive factor at any interval, but the presence of an APOE-epsilon4 allele was associated with a more rapid decline in the memory factor over the follow-up period. The effect was most pronounced among individuals with less than 10 years of formal education. There was no similar time-dependent relationship between APOE-epsilon4 and the language or visuospatial/cognitive factors. Transgenic mice and elderly humans without AD or QD expressing APOE-epsilon4 show a decline in memory performance over time. These observations provide evidence for an APOE-specific effect on memory during senescence.

Aged↗

Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium.

OBJECTIVE: To examine more closely the association between apolipoprotein E (APOE) genotype and Alzheimer disease (AD) by age and sex in populations of various ethnic and racial denominations. DATA SOURCES: Forty research teams contributed data on APOE genotype, sex, age at disease onset, and ethnic background for 5930 patients who met criteria for probable or definite AD and 8607 controls without dementia who were recruited from clinical, community, and brain bank sources. MAIN OUTCOME MEASURES: Odds ratios (ORs) and 95% confidence intervals (CIs) for AD, adjusted for age and study and stratified by major ethnic group (Caucasian, African American, Hispanic, and Japanese) and source, were computed for APOE genotypes epsilon2/epsilon2, epsilon2/epsilon3, epsilon2/epsilon4, epsilon3/epsilon4, and epsilon4/epsilon4 relative to the epsilon3/epsilon3 group. The influence of age and sex on the OR for each genotype was assessed using logistic regression procedures. RESULTS: Among Caucasian subjects from clinic- or autopsy-based studies, the risk of AD was significantly increased for people with genotypes epsilon2/epsilon4 (OR=2.6, 95% CI=1.6-4.0), epsilon3/epsilon4 (OR=3.2, 95% CI=2.8-3.8), and epsilon4/epsilon4 (OR=14.9, 95% CI= 10.8-20.6); whereas, the ORs were decreased for people with genotypes epsilon2/epsilon2 (OR=0.6, 95% CI=0.2-2.0) and epsilon2/epsilon3 (OR=0.6, 95% CI=0.5-0.8). The APOE epsilon4-AD association was weaker among African Americans and Hispanics, but there was significant heterogeneity in ORs among studies of African Americans (P<.03). The APOE epsilon4-AD association in Japanese subjects was stronger than in Caucasian subjects (epsilon3/epsilon4: OR=5.6, 95% CI=3.9-8.0; epsilon4/epsilon4: OR=33.1, 95% CI=13.6-80.5). The epsilon2/epsilon3 genotype appears equally protective across ethnic groups. We also found that among Caucasians, APOE genotype distributions are similar in groups of patients with AD whose diagnoses were determined clinically or by autopsy. In addition, we found that the APOE epsilon4 effect is evident at all ages between 40 and 90 years but diminishes after age 70 years and that the risk of AD associated with a given genotype varies with sex. CONCLUSIONS: The APOE epsilon4 allele represents a major risk factor for AD in all ethnic groups studied, across all ages between 40 and 90 years, and in both men and women. The association between APOE epsilon4 and AD in African Americans requires clarification, and the attenuated effect of APOE epsilon4 in Hispanics should be investigated further.

Adult↗