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

Meige syndrome is a relatively rare type of oral facial dystonia. The dominant symptoms involve involuntary eye blinking and chin thrusting. Some patients may experience excessive tongue protrusion, squinting, muddled speech, or uncontrollable contraction of the platysma muscle. A 44-year-old Japanese male was suffering from schizophrenia. The initial presentation of his psychosis consisted of auditory hallucinations, delusions of persecution, psychomotor excitement, loosening association, and restlessness. After being prescribed several antipsychotic drugs, risperidone was started and gradually increased to 4 mg/day. The above symptoms were relieved, particularly auditory hallucination and excitement were promptly improved. Persecutory delusion, however persisted, and deteriorated. At one year after the start of this risperidone regimen, he exhibited severe blepharospasm symptoms (increased rate of eye blinking, light sensitivity) and oromandibular symptoms (trismus, jaw pain, dysarthria). He was diagnosed with Meige syndrome. His antipsychotic drug was changed from risperidone to paliperidone. Two months after switching from risperidone to paliperidone, his eye blinking, light sensitivity, jaw pain, and trismus gradually improved, although the dysarthria persisted. Six months after starting paliperidone, his symptoms of Meige syndrome were completely remitted. He has been well without relapse at 12 mg/day of paliperidone. The case suggests that Meige syndrome is relieved by changing from risperidone to paliperidone. The precise mechanism of the relief remains, however, unknown.
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PMID:Marked Improvement of Meige Syndrome in a Japanese Male Patient with Schizophrenia After Switching from Risperidone to Paliperidone: A Case Report. 2762 71

The transcription repressor FOXP2 is a crucial player in nervous system evolution and development of humans and songbirds. In order to provide an additional insight into its functional role we compared target gene expression levels between human neuroblastoma cells (SH-SY5Y) stably overexpressing FOXP2 cDNA of either humans or the common chimpanzee, Rhesus monkey, and marmoset, respectively. RNA-seq led to identification of 27 genes with differential regulation under the control of human FOXP2, which were previously reported to have FOXP2-driven and/or songbird song-related expression regulation. RT-qPCR and Western blotting indicated differential regulation of additional 13 new target genes in response to overexpression of human FOXP2. These genes may be directly regulated by FOXP2 considering numerous matches of established FOXP2-binding motifs as well as publicly available FOXP2-ChIP-seq reads within their putative promoters. Ontology analysis of the new and reproduced targets, along with their interactors in a network, revealed an enrichment of terms relating to cellular signaling and communication, metabolism and catabolism, cellular migration and differentiation, and expression regulation. Notably, terms including the words "neuron" or "axonogenesis" were also enriched. Complementary literature screening uncovered many connections to human developmental (autism spectrum disease, schizophrenia, Down syndrome, agenesis of corpus callosum, trismus-pseudocamptodactyly, ankyloglossia, facial dysmorphology) and neurodegenerative diseases and disorders (Alzheimer's, Parkinson's, and Huntington's diseases, Lewy body dementia, amyotrophic lateral sclerosis). Links to deafness and dyslexia were detected, too. Such relations existed for single proteins (e.g., DCDC2, NURR1, PHOX2B, MYH8, and MYH13) and groups of proteins which conjointly function in mRNA processing, ribosomal recruitment, cell-cell adhesion (e.g., CDH4), cytoskeleton organization, neuro-inflammation, and processing of amyloid precursor protein. Conspicuously, many links pointed to an involvement of the FOXP2-driven network in JAK/STAT signaling and the regulation of the ezrin-radixin-moesin complex. Altogether, the applied phylogenetic perspective substantiated FOXP2's importance for nervous system development, maintenance, and functioning. However, the study also disclosed new regulatory pathways that might prove to be useful for understanding the molecular background of the aforementioned developmental disorders and neurodegenerative diseases.
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PMID:The FOXP2-Driven Network in Developmental Disorders and Neurodegeneration. 2879 67

Foreign body ingestion occurs in not only children but also adults, particularly those with history of neurologic disease, alcohol use, or psychiatric disease. We present the case of a 40-year-old male with schizophrenia who presented to the emergency room with a long history of pharyngeal foreign body sensation which had recently progressed to include trismus, odynophagia, and dyspnea. Flexible laryngoscopy demonstrated fullness of the right posterior pharyngeal wall and computed tomography (CT) showed a linear opaque foreign body extending from the level of the oropharynx to the thyroid ala. Further history elicited that he stabbed himself in the pharynx two years prior with a toothbrush following a command hallucination. The toothbrush was removed uneventfully via an external approach. The patient was discharged with psychiatry follow-up. This case is unusual due to the submucosal location of the foreign body and the length of retention. It demonstrates the atypical nature which patients with comorbid psychiatric illness may present following foreign body injury and the use of an external surgical approach for the removal of a retained foreign body based on CT reconstruction.
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PMID:Delayed Presentation of Submucosal Retained Toothbrush from Self-Inflicted Injury in Patient with Schizophrenia. 2945 75