Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Botulinum toxins (A and B) are neurotoxins derived from Clostridium botulinum. Clostridium are anaerobic bacteria. C. botulinum produces exotoxins (A to G) with distinct antigenicities. The neurotoxins inhibit the release of the neurotransmitter acetylcholine from the axon terminals of motor neurons. Botulinum toxin is officially used in clinic for the treatment of muscular hyperactivity (strabismus, blepharospam, cervical dystonia). Botulinum toxins are also used in non recognized clinical applications: neurogenic incontinence, palmar and axillary hyperhidrosis, chronic anal fissure. The respective formulations of Botox, Dysport and Neurobloc are described. Special considerations for administration are introduced.
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PMID:[Botulism toxin in practice]. 1292 47

Since its introduction for the treatment of strabismus, botulinum toxin (BoNT) has been increasingly used in the treatment of several disorders with excessive or inappropriate muscle contractions. The therapeutic effects of BoNT occur through the temporary chemodenervation caused by the injection into the local target muscle or skin. Modulation of muscle relaxation may be achieved by varying the dose of BoNT solution injected; most adverse effects are transient. Indeed, botulinum neurotoxin has been used to selectively weaken the internal anal sphincter as a treatment for chronic anal fissure in several randomized, controlled trials and open-label studies. The use of botulinum neurotoxin seems to be an effective and safe approach for the treatment of chronic anal fissure, particularly in patients at high risk for incontinence.
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PMID:Botulinum toxin A for the treatment of chronic anal fissure. 1907 12

Clinical conditions commonly associated with mitochondrial disorders (CAMDs) are often present in autism spectrum disorders (ASD) and intellectual disability (ID). Therefore, the mitochondrial dysfunction hypothesis has been proposed as a transversal mechanism that may function in both disorders. Here, we investigated the presence of conditions associated with mitochondrial disorders and mitochondrial DNA (mtDNA) alterations in 122 subjects who presented ASD with ID (ASD group), 115 subjects who presented ID but not ASD (ID group) and 112 healthy controls (HC group). We assessed in the three study groups the presence of the clinical conditions through a questionnaire and the mtDNA content of two mitochondrial genes, MT-ND1 and MT-ND4, by qPCR. The mtDNA sequences of 98 ASD and 95 ID subjects were obtained by mtDNA-targeted next generation sequencing and analysed through the MToolBox pipeline to identify mtDNA mutations. Subjects with ASD and ID showed higher frequencies of constipation, edema, seizures, vision alterations, strabismus and sphincter incontinence than HCs subjects. ASD and ID subjects showed significantly lower mtDNA content than HCs in both MT-ND1 and MT-ND4 genes. In addition, we identified 49 putative pathogenic variants with a heteroplasmy level higher than 60%: 8 missense, 29 rRNA and 12 tRNA variants. A total of 28.6% of ASD and 30.5% of ID subjects carried at least one putative pathogenic mtDNA mutation. The high frequency of CAMDs, the low mtDNA content and the presence of putative pathogenic mtDNA mutations observed in both ASD and ID subjects are evidence of mitochondrial dysfunction in ASD and ID.
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PMID:Genetic and clinical evidence of mitochondrial dysfunction in autism spectrum disorder and intellectual disability. 2934 Jun 97