Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In 4 patients, trauma to the lumbosacral area produced abnormalities similar to those seen after resection of the nervi erigentes. Mechanisms of the resulting constipation and fecal incontinence for liquid stools included a prolonged transit time through the entire colon, a low rectal pressure, spasticity of the anal canal, and abnormal anal reflexes. Previous trauma to the lower spine must be considered in the differential diagnosis of chronic constipation.
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PMID:Traumatic constipation. 49 13

The use of therapeutic electrical stimulation for medical purposes is not new; it has been described in medical textbooks since the 18th century, but its use has been limited due to concerns for tolerance and lack of research showing efficacy. The purpose of this review is to discuss the potential clinical applicability, while clarifying the differences in electrical stimulation (ES) treatments and the theory behind potential benefits to remediate functional impairments in youth.The literature review was performed as follows: A total of 37 articles were reviewed and the evidence for use in pediatric diagnoses is reported.The synthesis of the literature suggests that improvements in various impairments may be possible with the integration of ES. Most studies were completed on children with cerebral palsy (CP). Electrical stimulation may improve muscle mass and strength, spasticity, passive range of motion (PROM), upper extremity function, walking speed, and positioning of the foot and ankle kinematics during walking. Sitting posture and static/dynamic sitting balance may be improved with ES to trunk musculature. Bone mineral density may be positively affected with the use of Functional Electrical Stimulation (FES) ergometry. ES may also be useful in the management of urinary tract dysfunction and chronic constipation. Among all reviewed studies, reports of direct adverse reactions to electrical stimulation were rare.In conclusion, NMES and FES appear to be safe and well tolerated in children with various disabilities. It is suggested that physiatrists and other healthcare providers better understand the indications and parameters in order to utilize these tools effectively in the pediatric population. MeSH terms: Electrical stimulation; child; review.
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PMID:Does therapeutic electrical stimulation improve function in children with disabilities? A comprehensive literature review. 2728 1

SHANK3 encodes for a scaffolding protein that links neurotransmitter receptors to the cytoskeleton and is enriched in postsynaptic densities of excitatory synapses. Deletions or mutations in one copy of the SHANK3 gene cause Phelan-McDermid syndrome, also called 22q13.3 deletion syndrome, a neurodevelopmental disorder with common features including global developmental delay, absent to severely impaired language, autistic behavior, and minor dysmorphic features. By whole exome sequencing, we identified two de novo novel variants including one frameshift pathogenic variant and one missense variant of unknown significance in a 14-year-old boy with delayed motor milestones, delayed language acquisition, autism, intellectual disability, ataxia, progressively worsening spasticity of the lower extremities, dysmorphic features, short stature, microcephaly, failure to thrive, chronic constipation, intrauterine growth restriction, and bilateral inguinal hernias. Both changes are within the CpG island in exon 21, separated by a 375 bp sequence. Next generation sequencing of PCR products revealed that the two variants are most frequently associated with each other. Sanger sequencing of the cloned PCR products further confirmed that both changes were on a single allele. The clinical presentation in this individual is consistent with other patients with a truncating mutation in exon 21, suggesting that the missense change contributes none or minimally to the phenotypes. This is the first report of two de novo mutations in one SHANK3 allele.
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PMID:Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability. 2942 71