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PubMed1979

HLA antigens and schizophrenia.

We typed 45 schizophrenic patients for 35 HLA antigens and compared their frequencies with 1,263 population controls. No significant differences between schizophrenics and controls were found. When the schizophrenics were subtyped, a significant (P less than .05) excess of Aw26 was found among the hebephrenics, compared with the population controls. When the published literature on schizophrenia-HLA associations was surveyed, none of the reported associations were found to be consistent across studies. Some possible explanations for the heterogeneity among studies are discussed and it is concluded that an association between schizophrenia and any of the HLA antigens has not yet been demonstrated.

Adult↗
PubMed2000

Somatic mitochondrial DNA (mtDNA) mutations in papillary thyroid carcinomas and differential mtDNA sequence variants in cases with thyroid tumours.

Somatic mutations in mtDNA have recently been identified in colorectal tumours. Studies of oncocytic tumours have led to hypotheses which propose that defects in oxidative phosphorylation may result in a compensatory increase in mitochondrial replication and/or gene expression. Mutational analysis of mtDNA in thyroid neoplasia, which is characterised by increased numbers of mitochondria and is also one of the most common sites of oncocytic tumours. has been limited to date. Using the recently developed technique of two-dimensional gene scanning, we have successfully examined 21 cases of thyroid tumours, six cases of non-neoplastic thyroid pathology, 30 population controls, nine foetal thyroid tissues and nine foetal tissues of non-thyroid origin, either kidney or liver. We have identified three different somatic mutations (23%) in papillary thyroid carcinomas. In addition, we have found significant differential distributions of mtDNA sequence variants between thyroid carcinomas and controls. Interestingly, these variants appear to be more frequent in the genes which encode complex I of the mitochondrial electron transport chain compared to normal population controls. These findings suggest first, that somatic mtDNA mutations may be involved in thyroid tumorigenesis and second, that the accumulation of certain non-somatic variants may be related to tumour progression in the thyroid.

Adenoma↗
PubMed1981

Tooth sizes in two males with deletions of the long arm of the Y-chromosome.

Permanent and deciduous tooth crown sizes in two males with deletions of the long arm of the Y chromosome and their first-degree relatives were examined. The first proband with a deletion in the proximal part of Yq11 showed definitely smaller teeth than his father or population control males. The second proband with a deletion in the distal part of Yq11 showed large or normal sized teeth compared to his brother or population control males. These data support the results of earlier studies indicating a promoting effect of the Y chromosome on tooth growth, and suggest that the location of the growth-promoting gene(s) is in Yq11. It is postulated that statural growth is affected by the same gene(s).

Adult↗
PubMed2003

[UCLA/RAND Cancer Prostate Index quality of life questionnaire after external beam radiotherapy for localized prostate cancer: repercussions of complications and quality of life in general].

INTRODUCTION: This study was designed to evaluate the quality of life after external beam radiotherapy for localized prostate cancer using the UCLA/RAND Cancer Prostate Index questionnaire. MATERIAL AND METHODS: An accurate translation of the questionnaire was retrospectively sent to 108 patients treated for localized prostate cancer by exclusive external beam radiotherapy between 1989 and 1999. The reference values adopted for comparison were those observed by Litwin in a control population without prostate cancer. Patient subgroups were constituted according to the presence or absence of neoadjuvant endocrine therapy and laboratory signs of progression (ASTRO). RESULTS: The response rate was 61.1%, the mean age of the patients was 71.9 years and the mean follow-up was 46.5 months. The percentage of patients "living in a couple" or with "a serious relationship" was 93.4% Three quarters of the population declared that they were "satisfied" or "very satisfied" with the treatment performed. General quality of life scores were comparable to those of Litwin's control population. A functional alteration and decreased tolerance of impairment were observed, in decreasing order, for the sexual, gastrointestinal and urinary factors. CONCLUSION: External beam radiotherapy essentially alters quality of life related to gastrointestinal and sexual functions, while the only aspect of urinary function studied by this questionnaire is continence.

Aged↗
PubMed1997

Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker.

Early diagnosis of lysosomal storage disorders (LSDs), before the onset of irreversible pathologies, will be a key factor in the development of effective therapies for many of these disorders. Newborn screening offers a potential mechanism for the early detection of these disorders. From studies of both normal and LSD-affected human skin fibroblasts we identified the lysosome-associated membrane protein LAMP-1 as a potential diagnostic marker. We have developed a sensitive method for the quantification of this protein with a time-resolved fluorescence immunoassay. A soluble form of LAMP-1 was observed in plasma samples, and determination of 152 unaffected individuals gave a median value of 303 micrograms/L with the 5th and 95th percentile at 175 and 448 micrograms/L respectively. Plasma samples from 320 LSD-affected individuals representing 25 different disorders were assayed. We observed that 17 of the 25 disorder groups tested had > 88% of individuals above the 95th percentile of the control population, with 12 groups having 100% above the 95th percentile. Overall, 72% of patients had LAMP-1 concentrations above the 95th percentile of the unpartitioned control population. We suggest that LAMP-1 may be a useful marker in newborn screening for LSDs.

Adolescent↗
PubMed1999

Carotenoids, sexual signals and immune function in barn swallows from Chernobyl.

Carotenoids have been hypothesized to facilitate immune function and act as free-radical scavengers, thereby minimizing the frequency of mutations. Populations of animals exposed to higher levels of free radicals are thus expected to demonstrate reduced sexual coloration if use of carotenoids for free-radical scavenging is traded against use for sexual signals. The intensity of carotenoid-based sexual coloration was compared among three populations of barn swallows Hirundo rustica differing in exposure to radioactive contamination. Lymphocyte and immunoglobulin concentrations were depressed, whereas the heterophil:lymphocyte ratio, an index of stress, was enhanced in Chernobyl swallows compared to controls. Spleen size was reduced in Chernobyl compared to that of two control populations. Sexual coloration varied significantly among populations, with the size of a secondary sexual character (the length of the outermost tail feathers) being positively related to coloration in the two control populations, but not in the Chernobyl population. Thus the positive covariation between coloration and sexual signalling disappeared in the population subject to intense radioactive contamination. These findings suggest that the reliable signalling function of secondary sexual characters breaks down under extreme environmental conditions, no longer providing reliable information about the health status of males.

Animals↗
PubMed2005

Inherited defects in the interferon-gamma receptor or interleukin-12 signalling pathways are not sufficient to cause allergic disease in children.

T-helper (Th)2 cells, which produce the cytokines interleukins (IL)-4, IL-5 and IL-13, dominate T cell responses in allergic diseases. The Th1-type cytokines IL-12 and interferon-gamma (IFNgamma) are important in down-regulating Th2 responses to allergens. Patients with defects in the IL-12 receptor (IL-12R) or IFNgamma receptor (IFNgammaR) have abnormal responses to IL-12 or IFNgamma and a failure to produce normal levels of IFNgamma. Current paradigms of T-helper subset balance would predict a high prevalence of atopic illness in this group. We have studied a cohort of patients (n =29) with defects in these pathways to assess the prevalence of allergic disease. A questionnaire based on those developed for the International Study of Asthma and Allergy in Childhood (ISAAC) was used in conjunction with analysis of total and specific IgE to common aeroallergens. The prevalence of asthma, eczema and rhino-conjunctivitis (13.7%, 17.5% and 6.8% respectively) in this group was no higher than in comparable populations where prevalences of 13.9%, 7.9% and 13.5% are reported for asthma, eczema and rhinoconjunctivitis respectively. Patients with IFNgammaR defects had higher rates of clinical atopic illness than control populations and patients with IL-12R defects, with 28.5% prevalences for asthma and eczema, respectively. None of the patients suffered from severe clinical atopic disease. Defects in interferon-gamma receptor/interleukin-12 receptor responses are not sufficient to cause clinical allergic disease. Patients with defects in the interferon-gamma receptor pathway have a higher prevalence of high IgE and clinical atopic illness compared to control populations, supporting the concept that interferon-gamma receptor signalling plays a role in down-regulating type-2 cytokine responses.

Adolescent↗
PubMed1998

Chorioamniotic separation after second-trimester genetic amniocentesis: importance and frequency.

PURPOSE: To determine the frequency and importance of chorioamniotic separation (CAS) after second-trimester genetic amniocentesis. MATERIALS AND METHODS: In part 1 of the study, ultrasonography (US) databases were reviewed for cases of CAS. In part 2, a study population of 388 women undergoing amniocentesis underwent directed US examination for assessment of CAS 15 minutes and/or 2 weeks after amniocentesis. CAS, when present, was graded. A control population consisted of 363 women undergoing amniocentesis in whom the membranes were not assessed. RESULTS: In part 1, a review of 23,883 records revealed seven cases of complete CAS, with three deaths, two preterm deliveries, and one emergency cesarean section delivery due to fetal distress. In two of these cases, there were extremity deformities at birth. In part 2, CAS was present in 98 (25%) of 388 women at some point. There was no association between CAS and procedural variables. There was no substantial difference in morbidity between patients with and those without CAS, between patients with different grades of CAS, or between the study and control populations. CONCLUSION: Small degrees of CAS are frequently present after amniocentesis but are not detected because the membranes are not specifically evaluated. Complete CAS is less frequent.

Adult↗
PubMed1989

The validity of different control groups in a case-control study. Oral contraceptive use and breast cancer in young women.

The possible selection bias due to the use of different series of controls in case-control studies has been analysed in the Norwegian part of a joint national case-control study in Sweden and Norway of oral contraceptive (OC) use and breast cancer in young women. A total of 105 cases diagnosed 1984-1985 were interviewed in addition to 210 population controls matched for age, 104 neighbourhood controls matched for age and postal address, and 96 hospitals controls matched for age. The relative risk was for each of the sets of controls 1.0 for 8 years and more of total use of OCs (adjusted for age at menarche, parity, age at first full term pregnancy, history of breast cancer in mother, history of benign breast biopsy). An additional questionnaire was sent to those who did not wish to participate (non-attenders). A slight selection bias was found for the population controls with more nulliparous never-users of OCs among the non-attenders than among interviewed controls.

Adult↗
PubMed1993

Hyperopia as a risk factor for nonarteritic anterior ischemic optic neuropathy.

The most convincing morphologic component in the pathogenesis of nonarteritic anterior ischemic optic neuropathy is the anatomically small and crowded optic nerve head. Because the appearance of the optic disk is presumed to be related to underlying refractive error, we sought to determine if a particular refractive error places patients at additional risk for, or affords protection from, nonarteritic anterior ischemic optic neuropathy. We compared refractive errors of 50 patients with nonarteritic anterior ischemic optic neuropathy to an age-matched and eye-matched control population. The mean refractive error (in spherical equivalents) for the nonarteritic anterior ischemic optic neuropathy group was +0.26 diopter (SD +/- 2.08); the mean refractive error for controls was -0.86 diopter (SD +/- 2.91) (P = .027). Our results suggest that patients who have nonarteritic anterior ischemic optic neuropathy are less myopic than a control population. Whether it is myopia that protects from, or hyperopia that predisposes to nonarteritic anterior optic neuropathy, our results imply another anatomically based factor that characterizes eyes that develop nonarteritic anterior ischemic optic neuropathy. Those eyes tend to be minimally hyperopic.

Arteritis↗
PubMed1988

Chromosome 14 markers in rheumatoid arthritis.

Phenotype frequencies for variants of the chromosome 14 markers, alpha 1 antitrypsin (protease inhibitor--Pi), and immunoglobulin heavy chain gene allotypes (Gm and Am) were examined in affected and unaffected members of multicase rheumatoid arthritis (RA) families and compared with published population data. Significantly higher frequencies of phenotypes containing Pi*Z and Pi*S were observed in unrelated index RA cases compared with UK population data. There was also a higher frequency of Pi*Z in family members without RA than in population controls but no such difference for the frequency of Pi*S. No difference in the frequency of PiM1M2 heterozygotes was seen between patients with RA and population controls. An examination of clinical data failed to show any relation between any particular feature of RA and positivity for Pi*Z or Pi*S. No significant differences in frequency of Gm phenotypes were observed between patients with RA and controls. Significant association was found, however, between Pi*Z and Gm phenotypes containing Gm(zax;g). These associations are interpreted as indicating linkage disequilibria between these alleles. No interactions between DR4 and either G1m(z), (a), or (x) allotypes were apparent in patients with RA. A significant association was seen in the index RA cases between DR4 and Pi phenotypes carrying Z or S alleles. Observations from this study provide evidence for the existence of a genetic component for RA susceptibility encoded on chromosome 14. An interactive effect of these genes with DR4 towards susceptibility appears likely.

Arthritis, Rheumatoid↗
PubMed1982

The influence of a 100 km run on the composition of HDL.

In 26 male patients in a 100 km run, concentrations of the HDL constituents cholesterol, apolipoprotein A-I, phosphatidyl choline and sphingomyelin were determined before and immediately after the run. Before running, the values for HDL cholesterol were higher in the participants than in a control population. However, the HDL sphingomyelin, HDL phosphatidyl choline and HDL apolipoprotein A-I values for the participants did not differ from the values in a control population. After the 100 km run only the HDL cholesterol values were increased whereas the other HDL constituents were not affected by the run. It is concluded, that the single exposure to prolonged heavy exercise produces a change in HDL composition which is characterized by an exclusive increase in the cholesterol content of the HDL.

Adult↗
PubMed1998

Prevention of E.N.T. diseases.

World Health Organization has announced 'HEALTH FOR ALL BY YEAR 2000'. Unfortunately the emphasis at present is only on early diagnosis of a disease and its treatment. The modern investigations and treatment has become very costly which a poor man cannot afford. Preventive medicine is less costly. The developing countries have many socio-economic problems of population explosion, poverty, ignorance, illiteracy, shifting of population from rural to urban areas for employment and traffic jams in cities. Rapid industrialization has resulted in indiscriminate cutting of trees and forests and increasing pollution. Under the present circumstances one wonders whether it would be possible to achieve the WHO's object of health for all or will it remain a dream! The role of 'Yoga and Meditation' and vegetarian diet has been recognised world over for maintenance of normal physical and mental health; these help to lessen mental tension in the present competitive world full of stress and strain for all of us. 3-4% of people in the world avail the beneficial effects of alternative system of medicine is complete as each has its own merits and limitations. Hence our aim should be to choose an integrated system of medicine which would help in preventing diseases and treat them early by a safe and effective procedure. In the present political situation in our country none of the parties have announced any definite programme for population control, through it is a grave problem. We will not be able to fulfil our object of reaching our target of Health for all without strict population control major. Unless this programme is undertaken seriously as a priority in a co-ordinated disciplined manner by all of us and completed in a given period of time, the younger generation will not forgive us. We hope that as true citizens of India we will not spare any efforts on our part in attaining this objective for a bright future.

Humans↗
PubMedDate not supplied

[Superoxide dismutase and catalase levels in diseases of the aged].

UNLABELLED: Superoxide dismutase (SOD) and catalase (CAT) activities were measured in blood from 420 individuals: control population 126, males and females, age between 50 to 93 years of age without any relevant pathology. Pathological population: 294 patients, males and females, age between 50 to 93 years of age, with some disease in the cardiovascular system and in the osteoarticular system, myoma, prostatic pathologies, Chronic Obstructive Pulmonary Disease (EPOC), and Acute Cerebral Vascular Accident (ACVA). The method of Minami and Yoshikawa (SOD) and the method of Aebi (CAT) were judged the techniques of choice for a population study. STATISTICAL METHODS: ANOVA and Student's "t". 1) The results were that levels of activity for SOD and CAT were increased for women in control population, and 2) the level of activity for CAT decreases with aging. In the pathological population, we detected: 3) increased activity for SOD in cardiovascular diseases, myomas, EPOC and ACVA. 4) for CAT the level of activity decreases in cardiovascular and prostatic diseases, EPOC and ACVA. 5) while in osteoarticular diseases levels of activity for SOD and CAT were standard, but SOD level decreases with aging, for CAT in cardiovascular diseases and EPOC, too. Both enzymes work to balance the antioxidant system.

Age Factors↗
PubMed2006

Detecting disease gene in DNA haplotype sequences by nonparametric dissimilarity test.

Association studies for complex diseases based on haplotype data have received increasing attention in the last few years. A commonly used nonparametric method, which takes haplotype structure into consideration, is to use the U-statistic to compare the similarities between genetic compositions in the case and control populations. Although the method and its variants are convenient to use in practice, there are some areas where the tests cannot detect even large differences between cases and controls. To overcome this problem and enhance the power, we propose a new form of the weighted U-statistic, which directly compares the dissimilarity between the haplotype structures in the case and control populations. We show that this test statistic is asymptotically a linear combination of the absolute values of normal random variables under the null hypothesis, and shifts strictly toward the right under the alternative, and therefore has no blind areas of detection. Simulation studies indicate that our test statistic overcomes the weakness of the existing ones and is robust and powerful as well.

Base Sequence↗
PubMedDate not supplied

Effects of the protein-bound polysaccharide preparation, PSK on spontaneous breast cancer in mice.

The protein-bound polysaccharide preparation, PSK was tested for its ability to suppress carcinogenesis in spontaneous tumours in C3H/OuJ mice. They were divided into two groups of 40 individuals each. A normal diet was given to one group, establishing a control population, while the other group had 2% PSK added to their feed. Amount of feed consumed, body weight and tumour size were recorded weekly for 1 year. Within 15 weeks, 90% of the control population had developed tumours. In the test group the incidence of cancer and the number of tumours was significantly suppressed, and survival rates were improved. The amount of feed consumed and body weights of control and test groups were about the same.

Administration, Oral↗
PubMed2002

The cost-effectiveness of clozapine: a controlled, population-based, mirror-image study.

A retrospective cohort study, with a mirror-image design, was used to measure inpatient service utilization in 63 consecutive patients started on clozapine from a geographical catchment area compared to a control group matched for previous inpatient service use. An intent-to-treat analysis, including those patients (n = 28) who discontinued clozapine during the study period, showed a significant reduction in number of admissions and total time spent in hospital in the 2 years following clozapine initiation compared to the previous 2 years and to the follow-up period in the control group. This translated into a reduction of 7,300 pounds in hospitalization costs per patient started on clozapine, over the 2-year period. In those patients who continued clozapine treatment for the whole of the 2-year period, there was a two-thirds reduction in number of admissions and total time spent in hospital compared to no change in the clozapine discontinuers. These findings suggest that clozapine is a clinically and cost-effective intervention for severe schizophrenia in routine clinical settings.

Adult↗
PubMed2005

Farmer's lung disease and microbiological composition of hay: a case-control study.

Previous studies performed in France have suggested that handling hay contaminated with high amounts of moulds, and especially Absidia corymbifera and Eurotium amstelodami, may favour farmer's lung disease. The circumstances favouring farmer's lung disease and the distinctive microbiological composition of hay samples that provoke attacks need to be specified. We present a case-control study which investigates the agricultural practices and the microbiological composition of hay handled in patients with farmer's lung disease as compared to those of a representative control population. Ten cases identified the hay they were handling at the onset of symptoms. The location, type of farm and working conditions were similar to those of the control farms. Conversely, the microbiological composition of hay differed, with significantly higher amounts of E. amstelodami (P < 0.01), A. corymbifera (P = 0.003), mesophilic Streptomyces (P < 0.01), thermophilic Streptomyces (P < 0.01) and Saccharomonospora viridis (P < 0.01) than in the control population. Our results demonstrate that hay identified by patients as having a harmful effect is characterized by a higher total amount of microorganisms, notably five microorganisms that seem discriminative. Mean concentrations are 2- to 115-fold higher in hay suspected to cause symptoms than in hay from a representative panel of farms. Handling hay with high amounts of these five microorganisms constitutes a risk factor for farmer's lung disease that should be considered for the development of prophylactic measures.

Agriculture↗