Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The urographic position of the neck of the bladder in relation to the pubic symphysis was correlated with lower motor neuron (LMN) denervation of the urethral sphincter as detected with electromyography in 65 infants and children with myelodysplasia. Descent (prolapse) of the bladder (bladder neck below the upper margin of the pubic symphysis) was present in 30 (46.2%) patients. Prolapse was both more frequent and tended to be more severe in girls. Complete LMN denervation of the urethral sphincter was present in 25 (83.3%) of the 30 patients with prolapse and in only four (11.4%) of 35 with a normally positioned bladder. Conversely, 25 (86.2%) of the 29 patients with complete LMN denervation of the sphincter had prolapse as compared with only five (13.9%) of 36 patients with partial or no LMN denervation of the sphincter. Although not as precise as urodynamic testing, significant descent of the bladder neck is a reliable urographic finding of complete LMN denervation of the external urethral sphincter in infants and children with myelodysplasia.
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PMID:Descent of the bladder neck: a urographic finding in denervation of the urethral sphincter in children with myelodysplasia. 230 66

Variants in MCM3AP, encoding the germinal-centre associated nuclear protein, have been associated with progressive polyneuropathy with or without intellectual disability and ptosis in some cases, and with a complex phenotype with immunodeficiency, skin changes and myelodysplasia. MCM3AP encoded protein functions as an acetyltransferase that acetylates the replication protein, MCM3, and plays a key role in the regulation of DNA replication. In this study, we report a novel variant in MCM3AP (p.Ile954Thr), in a family including three affected individuals with characteristic features of Charcot-Marie-Tooth neuropathy and multiple sclerosis, an inflammatory condition of the central nervous system without known genetic cause. The affected individuals were homozygous for a missense MCM3AP variant, located at the Sac3 domain, which was predicted to affect conserved amino acid likely important for the function of the germinal-centre associated nuclear protein. Our data support further expansion of the clinical spectrum linked to MCM3AP variant and highlight that MCM3AP should be considered in patients with accompaniment of recessive motor axonal Charcot-Marie-Tooth neuropathy and multiple sclerosis.
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PMID:Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP. 3295 58