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Biomedical subjects

N Schupf

Publications and source records attributed to N Schupf.

At least 37 records · Page 2Linked to original sources
PubMed1997

Early menopause in women with Down's syndrome.

We used the AAMR's Adaptive Behavior Scale to ascertain current menstrual status in a population-based sample of 157 women with Down's syndrome (DS) and 187 women with other intellectual disability, all 40 years of age or older. The age-adjusted likelihood of menopause was twice as high in women with DS syndrome as in women with other intellectual disability (OR = 2.3; 95% CI = 1.1-4.9). Treated thyroid conditions did not influence menstrual status and did not modify the relationship between DS and menstrual status. These findings support the hypothesis that women with DS experience menopause at an earlier age and that this may be associated with accelerated aging.

Adult↗
PubMed1997

Reproduction among individuals with idiopathic/cryptogenic epilepsy: risk factors for spontaneous abortion.

PURPOSE: We wished to determine the effects of seizure type, age at onset, and family history of epilepsy on risk of spontaneous abortion in the pregnancies of adults with idiopathic/cryptogenic epilepsy. METHODS: We examined pregnancy outcomes in 812 adults with idiopathic/cryptogenic epilepsy who had ever had or fathered a pregnancy and 250 of their same sex siblings who had ever had or fathered a pregnancy. We compared the likelihood of spontaneous abortion before and after onset of epilepsy with the likelihood of spontaneous abortion among same sex siblings. RESULTS: Risk of spontaneous abortion was not increased before onset of epilepsy. After onset of epilepsy, risk of spontaneous abortion was significantly increased in the pregnancies of wives of men who had localization-related epilepsy with age at onset <10 years or who did not have a family history of epilepsy. In women after onset of epilepsy, risk of spontaneous abortion was significantly increased for pregnancies of women with localization-related epilepsy with age at onset < or =20 years and for those of women with or without a family history of epilepsy. Risk of spontaneous abortion was greatest in the pregnancies of women with a positive family history of epilepsy odds ratio, (OR = 2.12, p < 0.05). CONCLUSIONS: Risk of spontaneous abortion in the pregnancies of men and women with idiopathic/cryptogenic epilepsy varied with the clinical characteristics of their epilepsy. The increased risk of spontaneous abortion in women with a family history of epilepsy may influence the observed risk of epilepsy in their live-born offspring.

Abortion, Spontaneous↗
PubMed1996

Onset of dementia is associated with apolipoprotein E epsilon4 in Down's syndrome.

We examined the influence of apolipoprotein E (apoE) genotype on risk of dementia in 82 adults with Down's syndrome (DS). Compared with those with an apoE 3/3 genotype, the group of adults with DS with apoE 2/4, 3/4, and 4/4 genotypes were 5 times more likely to become demented (RR = 4.7; 95% CI = 1.2, 17.9). We hypothesize that the increased risk of dementia may be mediated by exacerbation of beta-amyloid deposition.

Adult↗
PubMed1996

Reproduction among individuals with idiopathic/cryptogenic epilepsy: risk factors for reduced fertility in marriage.

PURPOSE: We wished to determine risk factors for reduced fertility in marriage in men and women with idiopathic/cryptogenic epilepsy and to relate rates of reproduction to the risk of epilepsy in offspring of affected individuals. METHODS: We determined history of pregnancy and child bearing among 863 adults with idiopathic/cryptogenic epilepsy (ascertained from voluntary organizations) who had been married at some time in their lives and from their same-sex siblings without epilepsy who had been married. We examined the effects of seizure type, age at onset, and family history of epilepsy on fertility. Fertility rates were measured as live births per person-year of marriage before and after onset of epilepsy and compared with fertility rates among same-sex siblings without epilepsy by incidence rate ratios (IRR). RESULTS: For both men and women with epilepsy, reduced fertility was observed after, but not before, onset of epilepsy. Among both men and women with epilepsy, those with partial onset and early age at onset (< 10 years) were more reproductively disadvantaged than those with generalized onset and later age at onset. Among those with epilepsy, men with a family history of epilepsy were less reproductively disadvantaged than men without a family history of epilepsy, whereas women with and without a family history of epilepsy did not differ. CONCLUSIONS: We found no evidence of selectively reduced fertility among men with a genetic susceptibility to epilepsy that could account for the higher risk of epilepsy among offspring of affected women than among offspring of affected men.

Adult↗
PubMed1996

Prevalence of dementia in adults with and without Down syndrome.

Declines in adaptive behavior were examined in a study of dementia in adults with Down syndrome and other forms of mental retardation. No significant differences were found between adults under 50 years of age with and without Down syndrome. In contrast, individuals over 50 who had Down syndrome were more likely to be classified as having dementia over a range of quantitative decision criteria; nevertheless, prevalence estimates of dementia were substantially below the presumed 100% prevalence of neuropathological markers of Alzheimer disease. This apparent discrepancy between functional and neuropathological findings may be associated with variations in risk associated with Down syndrome genotypes and/or a true lack of correspondence between classical neuropathological hallmarks of Alzheimer disease in this population and clinical expression.

Adaptation, Psychological↗
PubMed1995

Apolipoprotein E and Alzheimer's disease: the implications of progress in molecular medicine.

We review the current status as well as the risks and benefits of a recently developed DNA test of risk for Alzheimer's disease: the apolipoprotein E genotype. While apolipoprotein E genotypes may indicate a degree of susceptibility, the gene is neither necessary nor sufficient to cause the disease; thus, many questions remain. Because risk prediction is not straightforward, practical issues related to the testing of complex diseases like Alzheimer's and to the ethical, legal, and social implications of genetic tests require careful consideration and unambiguous answers. The use of apolipoprotein E genotyping in patients with Alzheimer's disease should be limited to research centers, and additional studies are strongly recommended. Apolipoprotein E genotypes should not be available to third parties such as insurers or employers until genotypic risks are fully understood. National policies that encourage scientific investigation while maintaining individual privacy and limiting unnecessary access to genetic information should be immediately developed.

Alzheimer Disease↗
PubMed1995

Prevalence of intestinal parasite infections among individuals with mental retardation in New York State.

The prevalence of intestinal parasite infection among program participants of the New York State Office of Mental Retardation and Developmental Disabilities for the period 1986-1987 was estimated, and demographic factors associated with increased risk for infection were identified. The overall prevalence of infection was 7.3%. The two most prevalent infections were Enterobius vermicularis (4.5%) and strongyloides stercoralis (1.2%). Males and individuals with severe or profound mental retardation were twice as likely to be positive for the presence of intestinal parasites as females and individuals with mild/moderate retardation. The relatively low prevalence found in this study compared with previous surveys suggests that management of parasitic infection is improving in conjunction with developments in delivery of medical and habilitative services.

Adolescent↗
PubMed1994

Increased risk of Alzheimer's disease in mothers of adults with Down's syndrome.

Most adults with Down's syndrome (DS) develop neuropathology characteristic of Alzheimer's disease (AD) by the age of 40. Most of the non-dysjunction events in DS are of maternal origin. We postulated therefore that a shared genetic susceptibility to DS and AD would be associated with an increased frequency of AD among mothers, but not fathers, of individuals with DS. We further hypothesised that the shared susceptibility could involve an accelerated ageing process, leading to the birth of a child with DS to a relatively young mother and to an increased risk of dementia in the mother and her relatives. Families of 96 adults with DS and of 80 adults with other forms of mental retardation were ascertained through the New York State Developmental Disabilities services network. A semi-structured interview was used to obtain information on the presence or absence of non-stroke-related dementia and other disorders in parents. There was an increase in risk of dementia among mothers of DS probands compared with control mothers (risk ratio 2.6 [95% CI 0.9-7.3]). The risk of dementia among mothers who were 35 or younger when their DS children were born was 5 times that of control mothers (4.9 [1.6-15.4]). There was no increase in risk of dementia among mothers who were older (> 35 years) at the proband's birth (0.8 [0.2-3.4]). There was no difference in risk of dementia between fathers of DS cases and fathers of controls (1.2 [0.4-3.9]) and no discernible influence of age on this risk. Familial aggregation of dementia among mothers of adults with DS supports the hypothesis of a shared genetic susceptibility to DS and AD.

Adult↗
PubMed1993

Alzheimer neuropathology in mentally retarded adults: statistical independence of regional amyloid plaque and neurofibrillary tangle densities.

The densities of neurofibrillary tangles (NFT) and neuritic plaques (NP) were assessed quantitatively in the brains of 303 mentally retarded adults 23 to 90 years of age at the time of their deaths (mean = 59.5 years). Cases with Down's syndrome, hydrocephalus and metabolic disorders were excluded from the study. Examinations of frontal, temporal, parietal, and occipital cortex, as well as hippocampus and parahippocampal gyrus were made in every case. NPs and/or NFTs were observed within the brains of 163 cases (53.8%). Detailed analyses indicated that NP density within all brain regions examined was positively related to age, with the largest age associated increases in density seen in frontal and temporal regions. In contrast, NFT density increased with age only within hippocampus and parahippocampal gyrus, but not neocortex. In addition, NP lesions within neocortex were more diffusely distributed across regions for older compared to younger cases, while no similar age-associated change in the topography of NFTs was observed. Finally, factor analyses of the combined NP and NFT data indicated that, while strong correlations existed across the various brain regions for measures of NP and NFT densities, considered separately, there was virtually no indication of regional associations between these two types of lesions. While these data, from cases with mental retardation, cannot be generalized directly to the nonretarded population, they provide strong evidence that models of Alzheimer pathogenesis must take into account the fact that regional densities of NPs and NFTs, and, therefore, the underlying processes associated with formation of these lesions, can be largely independent.

Adult↗
PubMed1993

Reliability of seizure classification using a semistructured interview.

Methods for standardized classification of epileptic seizures are important for both clinical practice and epidemiologic research. In this study, we developed a strategy for standardized classification using a semistructured telephone interview and operational diagnostic criteria. We interviewed 1,957 adults with epilepsy ascertained from voluntary organizations. To confirm and expand the seizure history, we also interviewed a first-degree relative for 67% of subjects and obtained medical records for 59%. Three lay reviewers used all available information to classify seizures. To assess reliability, each reviewer classified a sample of subjects assigned to the others. In addition, an expert physician classified a sample of subjects assigned to two of the reviewers. Agreement was "moderate-substantial" for generalized-onset seizures, both for the comparisons between pairs of lay reviewers and for the neurologist versus lay reviewers. Agreement was "substantial-almost perfect" for partial-onset seizures, both for pairs of lay reviewers and for the neurologist versus lay reviewers. These results suggest that seizures can be reliably classified by lay reviewers, using operational criteria applied to symptoms ascertained in a semistructured telephone interview.

Adolescent↗
PubMed1992

Reduction in the incidence of Clostridium difficile-associated diarrhea in an acute care hospital and a skilled nursing facility following replacement of electronic thermometers with single-use disposables.

OBJECTIVE: To determine if the spread of Clostridium difficile-associated diarrhea is related to the use of electronic thermometers in an acute hospital and a chronic healthcare facility. DESIGN: After finding that a significant percentage (20.8%) of electronic rectal thermometer handles were contaminated with C difficile, all electronic thermometers were replaced with disposables. A before/after trial was conducted to determine if the change to disposable thermometers would reduce the incidence of C difficile-associated diarrhea. SETTING: The study took place in a 343-bed acute hospital and a 538-bed skilled nursing facility. PATIENTS: All patients who underwent routine microbiological evaluation for nosocomially acquired diarrhea over a 1-year period were included in the study. Nosocomial diarrhea was defined as 3 or more loose stools per day for 2 consecutive days and/or abdominal findings such as pain, distension, and ileus occurring 3 or more days after admission. RESULTS: During the 6-month postintervention period, the incidence of C difficile-associated diarrhea was reduced from 2.71/1,000 patient days to 1.76/1,000 patient days in the acute hospital and from 0.41/1,000 patient days to 0.11/1,000 patient days in the skilled nursing facility. The protective effect of the intervention was statistically significant for both facilities. CONCLUSIONS: Replacement of electronic thermometers with single-use disposables significantly reduced the incidence of C difficile-associated diarrhea in both acute care and skilled nursing care facilities. Data suggest that the rectal route may be important in the transmission of C difficile in these settings.

Aged↗
PubMed1989

Binding specificity and presynaptic action of anaphylatoxin C5a in rat brain.

Human anaphylatoxin C5a injected directly to the perifornical hypothalamus (PFH) of the rat elicits food intake in sated rats, an effect which mimics that of norepinephrine (NE) at the PFH. The ability of C5a to induce food intake is selectively blocked by the alpha-adrenergic antagonist phentolamine, confirming that C5a exerts its effects via an alpha-adrenergic receptor system. In this study specific C5a binding sites on rat brain slices were detected using 125I-C5a at 2.4 nM in the presence of unlabeled noncompeting C3a and competing C5a at 0.5 microM. To determine whether the in vivo activity of C5a was due to direct stimulation of an alpha-adrenergic receptor system or to indirect modulation via a specific C5a receptor, rats were pretreated at the PFH with C5ai, the "inactive" 74-desarginated derivative of C5a. C5ai blocked stimulation of feeding by C5a but had no effect on food intake elicited by NE, suggesting a presynaptic site for C5a activity. To determine whether C5a anaphylatoxin acts at presynaptic or postsynaptic sites, the ability of C5a and of NE to induce food intake in sated rats was compared before and after injection of the tyrosine hydroxylase inhibitor alpha-methyl-p-tyrosine (AMPT) to the PFH. AMPT would produce focal depletion of endogenous catecholamines by inhibition of catecholamine biosynthesis. Rats treated with AMPT failed to respond to C5a but ate excessively following NE, suggesting that C5a acts presynaptically, possibly to release NE. We propose that C5a acts at a specific C5a/C5ai receptor to modulate catecholamine activity at the brain site.

Anaphylatoxins↗
PubMed1987

Psychopharmacological activity of immune complexes in rat brain is complement dependent.

Sprague-Dawley male rats implanted with chronic indwelling cannulae at the perifornical hypothalamus eat excessively during the sixth hour following administration of exogenous immune-complexing reactants to the brain site. Rabbit anti-HSA was injected, followed in 30 min by a 20-fold excess of antigen. Anaphylatoxin C5a has also been shown to induce excessive intake, an effect similar to that of norepinephrine at this brain site. If the anaphylatoxins or other byproducts or consequence of the complement cascade were responsible for the immune complex effect, interference with the initiation of the cascade or with the conversion of C3 to C3a and C3b should abolish the behavioral response. These experiments demonstrate that immune complexes formed with the non-complement-fixing F(ab')2 fragment of the rabbit anti-HSA do not induce eating, and that normally active IgG antibody complexes do not induce eating if the site has been pretreated with goat anti-rat C3. This latter treatment had no effect, however, on the ability of the animals to respond to norepinephrine or to C5a. We conclude that the immune complex effect is complement dependent.

Animals↗
PubMed1987

Premature regression of adults with Down syndrome.

Adaptive skills of 2,144 individuals with Down syndrome were compared to a similar group of 4,172 developmentally disabled people without Down syndrome. Activities of daily living and cognitive skills were examined across etiology, age group, and level of mental retardation. For individuals with Down syndrome at all levels of retardation, adaptive competence declined with increasing age to a greater extent than for retarded control subjects. Clear age-related deficits associated with Down syndrome were observed only in people older than 50 years of age. Findings support previous evidence of an increased risk for the clinical signs of Alzheimer's disease among people with Down syndrome; however, signs of dementia appeared later in life than would be predicted from available neuropathological data.

Activities of Daily Living↗
PubMed1985

Effect of immune complex-forming reactants on catecholamine-modulated behaviors in the rat hypothalamus.

Injection of immune complex-forming reactants via implanted cannulae to the perifornical hypothalamus stimulated eating in sated rats and increased the eating response to exogenous norepinephrine (NE). Immune complex-induced eating was not seen after carbamyl choline injection, and immune complex treatment had no effect on water intake under any of the test conditions. The effects of immune complex activity occurred only 6 hours after administration, a time associated with heavy polymorphonuclear leukocyte infiltration of the cannula site. Immune complex activity mimics that following NE injection of this site. Because the immune complex-forming reactants are not specific to any neural antigen, we propose that their effects are indirectly mediated by anaphylatoxins produced by activation of the complement cascade.

Animals↗