Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036341 (schizophrenia)
 60,220 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The method for screening urinary oligosaccharides described in the accompanying paper [Clin. Chem. 24, 669 (1978)] has been applied to a large group of mentally handicapped patients as well as to patients with cystic fibrosis, malignant disease, and schizophrenia. The cause of the mental handicap was unknown in most cases. The primary object of the study was to investigate a possible link between some diseases and urinary complex carbohydrates. Our results show that abnormalities that are detectable in this way do not contribute significantly to the overall incidence of mental handicap, nor are they expressed in the other diseases studied.
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PMID:Screening for urinary oligosaccharides: application to a mentally handicapped population and to patients with some other diseases. 63 81

Genetic studies of alcoholics, their families and controls have given credence to the idea that genetic influences in alcoholism exist, and set the stage for efforts to identify alcoholism-susceptibility genes (Devor and Cloninger, 1989). My purpose is not to review the genetics of alcoholism, but rather to review the genetic approaches that have been successful in identifying the genes responsible for genetic conditions such as muscular dystrophy and cystic fibrosis. In these disorders our current knowledge of the basic biochemical defect was derived directly from the cloning of the gene that is defective in the disorder. The cloned gene provides DNA probes for carrier identification and prenatal diagnosis, while knowledge of the basic defect allows new and direct investigation of potential therapeutic strategies. The genetic approach is much less definitive when it comes to the study of polygenic or multifactorial disorders such as schizophrenia or Alzheimer's disease. In the case of alcoholism the problem is exacerbated not only by environmental factors but also by phenotypic and genetic heterogeneity. The lack of a clear inheritance pattern means that plausible modes of inheritance must be invoked and tested on families with multiple affected members. Direct segregation analysis may not be possible and the less informative analysis of sib-pairs may be the method of choice. Ultimately, however, it should be possible to identify and clone those genes that play a major role in determining susceptibility to alcoholism. Once cloned, the protein products can be identified, and study of their function should lead to new understanding of the complex biological processes involved in this disorder.
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PMID:Molecular genetic approaches to the study of individual risk in alcoholism. 184 36

Clinical chemistry is going through an identity crisis, squeezed between automation (de-skilling) on the service side and molecular genetics in research. Automated routine estimations are now carried out and interpreted by machines; the skilled staff members required are more likely to have degrees in electronics than medicine or biochemistry. The role of molecular genetics is more ambiguous; it is inherently reductionist, in that it attempts to explain most clinical phenomena in terms of DNA sequence alone. This has been remarkably successful for single-gene defects (such as those causing Duchenne muscular dystrophy, hemoglobinopathies, cystic fibrosis, and ataxias) and may well prove equally so for Alzheimer's disease, cancer, heart disease, and schizophrenia. DNA diagnosis is not yet routine, but because of technical advances such as gene amplification ("PCR") and high-sensitivity gene-detection assays, it may soon become so, not only in major centers but also in local pathology laboratories and general practice. Clinical chemists must decide whether they wish to respond to this new and stimulating challenge by retooling and retraining. Should anyone be permitted into clinical chemistry during the 1990s without knowledge of both electronics and molecular genetics? Will there be a clinical chemistry in the twenty-first century other than through molecular genetics? This article is a personal response to these questions.
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PMID:Molecular genetics and the transformation of clinical chemistry. 233 3

The lifetime and current prevalence of depression and anxiety disorders was determined in 41 children with Crohn's disease, 12 children with ulcerative colitis, and 52 children with cystic fibrosis, using the Kiddie-Schedule for Affective Disorders and Schizophrenia interview. The lifetime prevalence of depression was 29% in Crohn's disease, 21% in ulcerative colitis, and 11.5% in cystic fibrosis. The difference in the prevalence of depression between Crohn's disease and cystic fibrosis was significant (p less than 0.05). The lifetime and current prevalence of dysthymia was significantly greater in ulcerative colitis than Crohn's disease (p less than 0.01) or cystic fibrosis (p less than 0.01). The lifetime prevalence of atypical depression was significantly greater in Crohn's disease than cystic fibrosis (22% versus 5.8%, p less than 0.05) and was also greater in ulcerative colitis than cystic fibrosis (21% versus 5.8%, p = 0.1). There was no difference between the groups in the current prevalence of major depression or atypical depression, or in the lifetime or current prevalence of anxiety disorders.
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PMID:Depression and anxiety in pediatric inflammatory bowel disease and cystic fibrosis. 280 68

Artificial insemination donor selection requires predicting which men are likely to beget the healthiest offspring. Methods are developed for calculating the "offspring excess recurrence risk", delta R, for an anomaly in the offspring of an afflicted father. Mainly from published family survey and population data delta R is computed for 38 disorders. From a small survey a value for the with-treatment "affliction burden", Bt, is assigned to each anomaly. For each disorder the "offspring excess burden expectation" is delta RBt. Defects such as cataract, hereditary Parkinson disease, psoriasis, seropositive rheumatoid arthritis, and schizophrenia have such a high delta RBt that they are individually sufficient cause for rejecting a donor candidate. A candidate may be rejected because of a combination of lesser defects with sigma delta RBt exceeding an acceptable limit. A limit should also be placed on Bt, because the affliction burden for Tay-Sachs disease or cystic fibrosis is intolerable, however infrequent. Most of the important hereditary defects are late onset, and for the older donor the opportunity to select more directly against late-onset disorders offsets the added risk of newly-arising gene mutations. The most careful donor selection cannot completely eliminate the risk of a child inheriting some disorder, but selection can reduce the average total burden by as much as 17%.
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PMID:Selection against genetic defects in semen donors. 646 72

The success of the neurosciences in opening pathways to the understanding of psychotic disorders has led to enormous optimism about solutions to the mysteries of these illnesses. Yet the Holy Grail for this field--the discovery linkage between a chromosomal locus that is linked to a diseased gene--has thus far eluded us, whereas it has been grasped in such disorders as cystic fibrosis, Huntington's disease, and neurofibromatosis. This paper argues that those biological studies that bypass the psychological domain, and have directly attempted to find biochemical measures associated with schizophrenia, probably will not succeed. Seeking direct links from such molar behaviors as psychotic symptoms to molecular events has not worked in the past, and is not likely to work in the future. The approach recommended here focuses on working one's way from the behavioral through the psychological and psychophysiological levels toward the neural, biochemical and molecular levels. Psychology has much strength to contribute in the search for traits that broaden the phenotype of schizophrenia. Examples are given in the study of eye movement abnormalities as aids in the genetic exploration of schizophrenia.
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PMID:The role of psychological probes in genetic studies of schizophrenia. 794 11

We studied the admission rate, risk factors, neurological complications and sequelae of heat stroke (HS) during the 1995 heat wave in Madison, Wisconsin. HS was epidemic in 1995 (2.3 cases/1000 admissions), compared to the ten-fold lower endemic rate in 1994 (0.2/ 1000). There were 11 cases of HS, 9 males and 2 females. Contributing factors were athletic events (2), working outdoors (3) and indoor activity with malfunctioning air-conditioning (6). Medical conditions contributing to poor temperature regulation included schizophrenia with neuroleptic treatment (2), amyotrophic lateral sclerosis receiving nortriptiline (1), multiple sclerosis (1), attention deficit disorder (1), cystic fibrosis (1) and alcoholism (1). Acute neurological complications occurred in all patients on presentation including coma (8/11.73%), stupor (2/ 11.18%) and seizures (1/11.9%). Two patients (1856) had persistent neurological sequelae in the form of a pan-cerebellar syndrome while the remaining 9 recovered fully. Importantly, avoidable factors contributed to all of the patients with underlying diseases. These patients are particularly at risk and should take adequate precautions during summer months.
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PMID:Epidemic heat stroke in a midwest community: risk factors, neurological complications and sequelae. 916 37

There are many diseases related to ion channels. Mutations in muscle voltage-gated sodium, potassium, calcium and chloride channels, and acetylcholine-gated channel may lead to such physiological disorders as hyper- and hypokalemic periodic paralysis, myotonias, long QT syndrome, Brugada syndrome, malignant hyperthermia and myasthenia. Neuronal disorders, e.g., epilepsy, episodic ataxia, familial hemiplegic migraine, Lambert-Eaton myasthenic syndrome, Alzheimer's disease, Parkinson's disease, schizophrenia, hyperekplexia may result from dysfunction of voltage-gated sodium, potassium and calcium channels, or acetylcholine- and glycine-gated channels. Some kidney disorders, e.g., Bartter's syndrome, policystic kidney disease and Dent's disease, secretion disorders, e.g., hyperinsulinemic hypoglycemia of infancy and cystic fibrosis, vision disorders, e.g., congenital stationary night blindness and total colour-blindness may also be linked to mutations in ion channels.
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PMID:Ion channels-related diseases. 1131 Sep 70

A considerable literature has been published on the health benefits of fish, oil-rich fish and fish oils and their constituent long-chain (LC) n-3 PUFA. Evidence from epidemiological studies highlights the cardioprotective attributes of diets rich in fish, especially oil-rich fish. Data from intervention trials are consistent in suggesting that LC n-3 PUFA lower the risk of CVD, probably by the multiple mechanisms of lowering serum triacylglycerols, improving the LDL:HDL ratio, anti-arrhythmic effects on heart muscle, improved plaque stability, anti-thrombotic effects and reduced endothelial activation. Research indicates LC n-3 PUFA provision has an impact during development, and there is preliminary evidence that docosahexaenoic acid supplementation during pregnancy could optimise brain and retina development in the infant. LC n-3 PUFA are also postulated to ameliorate behavioural and mental health disturbances such as depression, schizophrenia, dementia and attention deficit hyperactivity disorder. However, despite some positive evidence in each of these areas, use of LC n-3 PUFA in these conditions remains at the experimental stage. In the case of immune function, there is little doubt that LC n-3 PUFA have a positive effect. Although intervention trials in rheumatoid arthritis show strong evidence of benefit, evidence for efficacy in other inflammatory conditions, including Crohn's disease, ulcerative colitis, psoriasis, lupus, multiple sclerosis, cystic fibrosis and asthma, is inconsistent or inadequate. More promising evidence in some conditions may come from studies which attempt to modify the fetal environment using LC n-3 PUFA supplementation during pregnancy.
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PMID:The impact of long-chain n-3 polyunsaturated fatty acids on human health. 1907 99

The isolation of heat-stable enterotoxin (STa) from Escherichia coli and cholera toxin from Vibrio cholerae has increased our knowledge of specific mechanisms of action that could be used as pharmacological tools to understand the guanylyl cyclase-C and the adenylyl cyclase enzymatic systems. These discoveries have also been instrumental in increasing our understanding of the basic mechanisms that control the electrolyte and water balance in the gut, kidney, and urinary tracts under normal conditions and in disease. Herein, we review the evolution of genes of the guanylin family and STa genes from bacteria to fish and mammals. We also describe new developments and perspectives regarding these novel bacterial compounds and peptide hormones that act in electrolyte and water balance. The available data point toward new therapeutic perspectives for pathological features such as functional gastrointestinal disorders associated with constipation, colorectal cancer, cystic fibrosis, asthma, hypertension, gastrointestinal barrier function damage associated with enteropathy, enteric infection, malnutrition, satiety, food preferences, obesity, metabolic syndrome, and effects on behavior and brain disorders such as attention deficit, hyperactivity disorder, and schizophrenia.
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PMID:From Escherichia coli heat-stable enterotoxin to mammalian endogenous guanylin hormones. 2465 26


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