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At least 1,765 records · Page 98Linked to original sources
PubMed2003

Constipation, polyps, or cancer? Let PTEN predict your future.

The inherited hamartoma polyposis syndromes encompass several distinct clinical syndromes with different genetic bases, Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), juvenile polyposis syndrome (JPS), and Peutz-Jeghers syndrome (PJS). Germline mutations in PTEN, encoding a tumor suppressor phosphatase on 10q23.3, is associated with 80% of CS and 60% of BRRS. JPS is caused by mutations in MADH4 and BMPR1A, encoding two members of the TGFB superfamily. Germline mutations in LKB1 (STK11) are associated with a subset of PJS. The number, distribution, and histologic type of polyps differ amongst these syndromes as do component cancer risks. While rare, usually asymptomatic, hamartomatous polyps are felt to be component to CS. Hamartomatous polyposis is usually prominent and symptomatic in BRRS. Polyposis, which can be quite symptomatic, is a cardinal component feature of PJS and JPS. Interestingly, glycogenic acanthosis of the esophagus is highly predictive of CS and the presence of PTEN mutation. PTEN mutation positive CS have been shown to be at increased risk of breast, thyroid, and endometrial cancer. PTEN mutation positive BRRS are at increased risk of at least breast cancer, possibly that of the thyroid as well. In contrast, JPS and PJS have increased risk of gastrointestinal cancers in particular. Thus, molecular-based diagnoses to differentiate each of these syndromes are important for medical management.

Colonic Neoplasms↗
PubMed1977

Organic constipation in adults.

Four cases of non-Hirschsprung megacolon in adults are presented. The histology of the myenteric plexus suggests that this may be an anomaly of development.

Adolescent↗
PubMed1985

New method for the dynamic assessment of anorectal function in constipation.

A new dynamic technique for the investigation of anorectal function has been developed. This involves radiological visualization of the rectum during voiding of a semisolid radio-opaque contrast medium, and simultaneous measurement of the intrarectal pressure and electrical activity of the external anal sphincter. The method has been used to study patients (n = 16) with profound difficulty passing formed stool. It has demonstrated an abnormal increase in the activity of the puborectalis and superficial and sphincter muscles during voiding in these patients, compared with normal subjects (n = 6). The inability to void was associated with failure to widen the anorectal angle on straining.

Adult↗
PubMed1989

Long term results of anorectal myectomy for chronic constipation.

Early evaluation of anorectal myectomy in this unit suggested that it might provide clinical benefit to patients with outlet obstruction. Long term results of anorectal myectomy are now available in 63 patients operated on between February 1984 and February 1988 with a median follow-up of 30 months. Spontaneous rectal evacuation without the need for laxatives was recorded in only 11 patients (17 per cent), while 44 (70 per cent) achieved no functional improvement. Mild incontinence developed in 6 patients (10 per cent). Results were independent of preoperative colonic transit or histological evidence of aganglionosis.

Adolescent↗