Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026986 (myelodysplastic syndrome)
 14,926 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In 114 patients with postrepair myelomeningocele MRI of the spine was performed. Tethered cord (89%) and associated malformations (syrinx, lipoma etc.) (33%) were the most important findings. Additional MRI scans of the head (44 patients) revealed numerous further anomalies. Arnold Chiari malformation was found in 76% of the patients (ACM I:32%, ACM II:44%). In the ACM II group compression of lower cranial nerves, brain stem, and cerebellum can lead to considerable neurologic symptoms. Therefore in patients with progressive neurologic dysfunction a complete investigation of the whole spine and brain is necessary. MRI proves to be the diagnostic procedure of choice in patients with dysraphic myelodysplasia.
 ...
PMID:Cerebral and spinal MR-findings in patients with postrepair myelomeningocele. 233 86

We describe an operation that increases bladder neck resistance in patients with urinary incontinence. It is a modification of the rectus fascial sling that was designed as an adjunct to augmentation cystoplasty and is used in association with clean intermittent catheterization. The operation is performed by circumferentially wrapping a rectus fascial defatted free graft around the bladder neck and suturing it to appose the bladder neck. The procedure was done in 17 patients, including 10 with myelodysplasia, 3 with sacral lipoma, 3 with bladder exstrophy and 1 with nonneurogenic neurogenic bladder. Leak point pressure improved in patients in whom it was measured preoperatively and postoperatively. Complications developed in 5 patients, including difficulty with catheterization in 2, ventral hernia at the graft harvest site in 1, bladder calculus in 1 and detrusor hyperreflexia in 1. Early results with the bladder fascial wrap indicate that it has the ability to improve continence in patients with a dysfunctional bladder neck who have undergone augmentation.
 ...
PMID:Rectus fascial wrap: early results of a modification of the rectus fascial sling. 760 76

Patients with neuropathic bladders who have intractable hyperreflexia often require cystoplasty and in patients adequately motivated and counselled, continence rates in excess of 90% can be achieved. Seventy-eight patients with neurological disease have undergone enterocystoplasty and are presented. Twenty-two patients had acquired cord lesions of which 17 were traumatic. Of the 56 patients with congenital myelodysplasia, 49 were meningomyelocele, 5 had sacral agenesis, and 2 lipoma of cauda equina. The mean age was 26 (range 13-61) years with 48 male and 30 females. Pre-operative video urodynamics showed sphincter weakness in 54 patients, all patients had intermediate type bladders; hyperreflexia in 52, reduced compliance in 17, and in 7 a combination of both. Forty-seven patients had ileal, 20 had sigmoid, and 11 had ileocaecal cystoplasty. Fifty-two patients had an artificial urinary sphincter inserted, 9 had a colposuspension, and 1 had both for concurrent sphincter weakness incontinence. Acceptable continence has been achieved in 73 (93.6%) patients, 65 claiming complete continence with no pads or incontinence episodes and the 8 others needing pharmacotherapy or pads. Two of our 5 failures have been converted to an ileal loop, 2 are awaiting further surgery, and 1 is wet despite normal urodynamics. Our threshold for initiating intermittent catheterisation is low and 63 (81%) of our patients catheterise. Complications in these patients are few and the only one of note is persistent bowel problems in 30% of our patients. Cystoplasty is recommended as safe and reliable in the treatment of neurogenic detrusor over activity with a continence rate of 93% being achieved.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Enterocystoplasty in the neuropathic bladder. 774 49

Chromosomal translocations that target HMGA2 at chromosome band 12q14 are seen in a variety of malignancies, notably lipoma, pleomorphic salivary adenoma and uterine leiomyoma. Although some HMGA2 fusion genes have been reported, several lines of evidence suggest that the critical pathogenic event is the expression of truncated HMGA2 isoforms. We report here the involvement of HMGA2 in six patients with myeloid neoplasia, dysplastic features and translocations or an inversion involving chromosome bands 12q13-15 and either 7p12, 8q22, 11q23, 12p11, 14q31 or 20q11. Breaks within or very close to HMGA2 were found in all six cases by molecular cytogenetic analysis, leading to overexpression of this gene as assessed by RT-PCR. Truncated transcripts consisting of HMGA2 exons 1-2 or exons 1-3 spliced to intron-derived sequences were identified in two patients, but were not seen in controls. These findings suggest that abnormalities of HMGA2 play an important and previously unsuspected role in myelodysplasia.
 ...
PMID:Disruption and aberrant expression of HMGA2 as a consequence of diverse chromosomal translocations in myeloid malignancies. 1561 63