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)

Reported herein is the possible interaction between two drugs used to treat a man with a large prolactin-secreting pituitary adenoma. The patient had a long history of schizophrenia that was treated with many different medications, including phenothiazines. Evaluation of progressive lethargy led to the discovery of a large parasellar tumor and a prolactin level of 7,981 ng/ml. His serum prolactin level fell to the 400 ng/ml range during bromocriptine therapy but rose whenever the antipsychotic thioridazine was added to his regimen. A marked deterioration of his visual fields was noted after 3 months' therapy with both drugs, and this abnormality resolved five days after the thioridazine was stopped. The use of dopamine antagonists such as thioridazine in patients with prolactinoma may interfere with bromocriptine's action, resulting in potentially serious complications.
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PMID:Interactions between thioridazine and bromocriptine in a patient with a prolactin-secreting pituitary adenoma. 672 Jul 32

This paper presents the case report of a 28-year-old man with a rare form of autoscopy. His appearance when he was admitted suggested the possibility of "flash back," due to his long history of abuse of psychotomimetic amphetamines and LSD. The complete psychiatric history and evaluation made it clear that the diagnosis should be that of schizophrenia. He was described as a solitary, withdrawn person, who had lost drive and was emotionally blunted. He often experienced feelings of unreality and appeared to be almost continually deluded and hallucinated. His main delusions were centered on the phenomenon of "autoscopy." The uniqueness of this case is the patient's delusion of watching himself on a television screen acting as one of the "stars."
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PMID:The autoscopic phenomenon: case report and review of literature. 729 67

MB suffered an episode of status epilepticus of febrile origin at the age of 20 months. This was followed at two years by complex partial seizures of temporal lobe origin and at eight years he had learning difficulties arising from the dominant hemisphere. Subsequent symptoms included auditory, visual and olfactory hallucinations which were not controlled by antipsychotics or antiepileptics. EEG and MRI were unhelpful and alternating diagnoses of schizophrenia and temporal lobe epilepsy were made. Now aged 17 years, he has a diagnosis of schizophreniform psychosis with temporal lobe abnormality from status epilepticus in childhood, and is managed by an adult psychiatrist. His symptoms persist.
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PMID:Psychosis or epilepsy--a diagnostic and management quandary. 789 50

The history of psychosurgery in Russia can be divided into 3 periods: The first period starts at the turn of the century under the initiative of Bekhterev. His pupil and one of the fathers of Russian neurosurgery Puusepp performed leucotomy-like cuttings of frontal association fibers in manic-depressive cases and psychic equivalents of epileptics as early as 1906-1910. The second period includes the time from the late 1930ies till the late 1940ies. The classical leucotomy of Moniz and Lima, with some modifications, was used for treatment of schizophrenia and severe pain. In 1950 psychosurgery was prohibited by the special order of the Minister of Health of the USSR for ideological reasons. The third period starts in the early 1980ies with the acceptance of modern stereotactic techniques for treatment of intractable pain and obsessive-compulsive disorders.
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PMID:On the history of psychosurgery in Russia. 812 32

As alterations in GABAergic neurotransmission have been indirectly implicated in the pathogenetics of schizophrenia, GABAA receptor subunit genes are plausible candidate genes for the illness. We undertook a search for sequence variations in the coding region of beta 1 subunit gene by designing intron-based primers to amplify its 9 exons. Using single strand conformation polymorphism (SSCP) analysis, we found an exon 9 variant present in 3 of 86 unrelated schizophrenic cases derived from families having at least 2 first-degree relatives with schizophrenia. Direct sequencing of the SSCP variant revealed a C-->G nucleotide transversion at codon 396 predicting a histidine to glutamine substitution in the beta 1 peptide. The predicted amino acid substitution occurs at a highly conserved site, 9 residues from a cAMP-dependent serine phosphorylation consensus sequence. All known GABAA beta 1 subunit genes including human, bovine, and rat, code for histidine at position 396. Although the variant cosegregated with disease in a family with 2 affected sibs, it was only transmitted to 2 of 3 affected sibs in a multiplex family. The variant was not found in an additional sample comprising 155 unrelated schizophrenics and the sequence variant was present at a low frequency (approximately 1.1%) in control groups. Although these results indicate that the sequence variant is likely to be a natural polymorphism, it is possible that the variant may be a predisposing allele in rare instances. It is also possible that the variant may change the function or regulation of the GABAA receptor complex and it may be of pharmacogenetic relevance.
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PMID:Search for mutations in the beta 1 GABAA receptor subunit gene in patients with schizophrenia. 817 35

A statistically significant association between a silent mutation (102T/C) in the serotonin-2A (5-HT2A) receptor gene and schizophrenia has recently been reported in a sample of Japanese patients and healthy controls. This finding suggests that genetic predisposition to schizophrenia may be affected by a functional 5-HT2A receptor variant that is in linkage disequilibrium with 102T/C. In the present study, we have sought to identify genetic variation in the 5-HT2A receptor gene by screening genomic DNA samples from 91 unrelated subjects comprising 45 patients with schizophrenia and 46 healthy controls by using single-strand conformation analysis. We have identified four nucleotide sequence variants. Two sequence changes would result in protein alterations: a substitution of threonine by asparagine at position 25 (Thr25Asn), and a substitution of histidine by tyrosine at position 452 (His452Tyr). In order to test for a possible contribution to the development of schizophrenia, we have determined allele frequencies in extended samples of unrelated patients and healthy controls. The two amino acid substitutions are found with similar frequencies in patients and controls, indicating that the presence of these variants is not causally related to the development of schizophrenia. However, the reported association of the non-coding polymorphism 102T/C with the disease has also been detected in our sample (P=0.041, odds ratio=1.28, 95% confidence interval 1.012-1.623).
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PMID:Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: identification of two naturally occurring receptor variants and association analysis in schizophrenia. 865 41

Using single strand conformational analysis we screened the complete coding sequence of the serotonin 1F (5-HT1F) receptor gene for the presence of DNA sequence variation in a sample of 137 unrelated individuals including 45 schizophrenic patients, 46 bipolar patients, as well as 46 healthy controls. We detected only three rare sequence variants which are characterized by single base pair substitutions, namely a silent T-->A transversion in the third position of codon 261 (encoding isoleucine), a silent C-->T transition in the third position of codon 176 (encoding histidine), and an C-->T transition in position -78 upstream from the start codon. The lack of significant mutations in patients suffering from schizophrenia and bipolar affective disorder indicates that the 5-HT1F receptor is not commonly involved in the etiology of these diseases.
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PMID:Systematic screening for mutations in the human serotonin 1F receptor gene in patients with bipolar affective disorder and schizophrenia. 872 53

Risperidone is an antipsychotic drug used for the treatment of schizophrenia. It was expected that this atypical neuroleptic agent would not cause dystonia or neuroleptic malignant syndrome (NMS) owing to its unique mechanism of action with attenuated anti-dopaminergic activity and more potent antiserotoninergic activity. We report the case of a geriatric patient in whom signs and symptoms consistent with NMS developed after 3 weeks of risperidone therapy. The patient presented with fever, mental status changes, tremor, and rigidity. His laboratory findings were significant for increased serum creatine phosphokinase, hypernatremia, and metabolic acidosis. There have been few reported cases of risperidone-induced NMS. Health care providers should be aware of the risk of risperidone-induced NMS.
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PMID:Risperidone-induced neuroleptic malignant syndrome. 936 May 86

Mutation screening identified variants of h5-HT1A (Gly-22-Ser, Ile-28-Val, Arg-219-Leu), h5-HT1B (Phe-124-Cys), h5-HT2A (Thr-25-Asn, His-452-Tyr), h5-HT2C (Cys-23-Ser) and h5-HT7 (Thr-92-Lys, Pro-279-Leu) receptors. Screening of h5-HT1D, h5-ht1e, h5-ht1f and h5-ht5 receptor genes failed to detect any significant mutations. No differences in radioligand binding properties were observed between the h5-HT1A Ile-28-Val variant receptor (VR) and the wildtype receptor (WTR). Binding profiles of the h5-HT1A Gly-22-Val variant and the WTR were also very similar, but the 8-OH-DPAT-induced down-regulation and desensitization of the VR was attenuated. The h5-HT1B Phe-124-Cys variant leads to considerable changes in [3H]5-carboxamidotryptamine binding: Bmax was decreased and the affinity of various h5-HT1B ligands was modified (usually increased; e.g., in the case of sumatriptan). The h5-HT2A His-452-Tyr variant causes an alteration of the amplitude and timing of intracellular calcium mobilization in platelets from 452-His/452-Tyr heterozygous compared to 452-His/452-His homozygous individuals. Most, but not all, of the VRs listed above were examined for association with, e.g., bipolar depression and schizophrenia, yet no relation was observed. The most consistent finding was an association between a silent mutation (102T/C) in the h5-HT2A receptor gene and schizophrenia; this association may be explained by linkage disequilibrium with a functional variant in the regulatory region of the gene. Studies of the therapeutic response to clozapine produced no homogeneous results with respect to the pharmacogenetic significance of the various mutations in the h5-HT2A and h5-HT2C receptor genes.
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PMID:Genetic variation in human 5-HT receptors: potential pathogenetic and pharmacological role. 992 35

Bilateral temporal arachnoid cysts and other intracranial congenital lesions including a moderately large left temporal arachnoid cyst accompanied by remarkable dysplasia of the temporal lobe in particular were discovered by chance during computerized axial tomography of a 26-year-old Japanese male who had been diagnosed as schizophrenia approximately 10 years earlier. A detailed re-assessment revealed no other organic symptoms or signs. His symptoms and clinical course met the DSM-IV criteria for schizophrenia, disorganized type. Based on his symptoms, positron emission tomography (PET) and the eye-movement recording test developed by Kojima et al. were performed. In addition, psychological tests including WAIS, Rorschach Test, and Wechsler's Memory Test were administered for further differential diagnosis. PET using continuous inhalation of oxygen 15-gas revealed a regional decrease in CBF and CMRO2 in the superior medial frontal lobe including the anterior cingulate gylus, findings sometimes associated with schizophrenia. However, no abnormal findings were noted around the arachnoid cysts. In the eye-movement recording test, several parameters including the responsive search score (RSS) were about the same level as that commonly observed in schizophrenics and are classified as schizophrenia by discrimination analysis. The psychological tests offered no reason to doubt the diagnosis of schizophrenia. Thus, the patient was diagnosed as schizophrenia with arachnoid cysts and other intracranial lesions. The way of diagnosis we used here might bring forth a breakthrough in schizophrenia research by differentiating schizophrenia from the other organic brain diseases.
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PMID:[Differential diagnosis of schizophrenic symptoms complicated with brain anomalies including bilateral temporal arachnoid cysts by eye mark recorder and PET: a case study]. 1037 80


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