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  • Cell & Developmental Biology  (65)
  • Familial adenomatous polyposis  (8)
  • Electromyography  (4)
  • 1
    Electronic Resource
    Electronic Resource
    Cinedefecography and electromyography in the diagnosis of nonrelaxing puborectalis syndrome (1993)
    Springer
    Diseases of the colon & rectum 36 (1993), S. 668-676 
    Details
    ISSN: 1530-0358
    Keywords: Paradoxical puborectalis contraction ; Nonrelaxing puborectalis syndrome ; Anismus ; Constipation ; Defecography ; Electromyography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A prospective study was undertaken to assess the correlation between electromyography (EMG) and cinedefecography (CD) for the diagnosis of nonrelaxing puborectalis syndrome (NRPR). Clinical criteria for NRPR included straining, incomplete evacuation, tenesmus, and the need for enemas, suppositories, or digitation. EMG criteria included failure to achieve a significant decrease in electrical activity of the puborectalis (PR) during attempted evacuation. CD criteria included either paradoxical contraction or failure of relaxation of the PR along with incomplete evacuation. In addition, other etiologies for incomplete evacuation, such as rectoanal intussusception or nonemptying rectocele, were excluded by proctoscopy and defecography in all cases. One hundred twelve patients with constipation, 81 females and 31 males, with a mean age of 59 (range, 12–83) years were studied by routine office evaluation, CD, and EMG. Forty-two patients (37 percent) had evidence of NRPR on CD (rectal emptying: none, 24; incomplete, 18). Twenty-eight of these patients (67 percent) also had evidence of NRPR on EMG. EMG findings of NRPR were present in 12 of 70 patients (17 percent) with normal rectal emptying. Conversely, 14 of 72 patients (19 percent) with normal PR relaxation on EMG had an NRPR pattern on CD. The sensitivity and specificity for the EMG diagnosis of NRPR were 67 percent and 83 percent, and the positive and negative predictive values were 70 percent and 80 percent, respectively. Conversely, if EMG is considered as the ideal test for the diagnosis of NRPR, CD had a sensitivity of 70 percent, a specificity of 80 percent, and positive and negative predictive values of 66 percent and 82 percent, respectively. In summary, sensitivity, specificity, and predictive values of EMG and CD are suboptimal. Therefore, a combination of these two tests is suggested for the diagnosis of NRPR.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02238594
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  • 2
    Electronic Resource
    Electronic Resource
    Spontaneous mutation in familial adenomatous polyposis (1990)
    Springer
    Diseases of the colon & rectum 33 (1990), S. 52-55 
    Details
    ISSN: 1530-0358
    Keywords: Familial adenomatous polyposis ; Spontaneous mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A retrospective review of the familial adenomatous polyposis registry at the Cleveland Clinic Foundation revealed an incidence of spontaneous mutation in familial adenomatous polyposis (FAP) of 22 percent of family kindreds. These patients were reviewed retrospectively and compared with the total FAP population followed at The Cleveland Clinic Foundation with respect to the onset of disease, the incidence of carcinoma in the resected colon, and incidence of extracolonic manifestations. Review of the characteristics and presentations of these patients suggested that these individuals may harbor a more severe form of FAP. This may be due, in part, to the delay in diagnosis and, therefore, a higher rate of development of colorectal carcinoma and possibly duodenal adenomas. There is also a demonstrable higher rate of extracolonic manifestations of FAP present in this subset of patients. When selecting the initial type of prophylactic colonic resection the surgeon should bear in mind the increased incidence of extracolonic manifestations of the disease in this group of patients and their potential for complications.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02053203
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  • 3
    Electronic Resource
    Electronic Resource
    Predictive value of congenital hypertrophy of the retinal pigment epithelium as a clinical marker for familial adenomatous polyposis (1990)
    Springer
    Diseases of the colon & rectum 33 (1990), S. 1003-1008 
    Details
    ISSN: 1530-0358
    Keywords: Familial adenomatous polyposis ; Congenital hypertrophy ; Retinal pigment epithelium ; Extracolonic manifestations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract One hundred forty-eight members of 53 kindreds with familial adenomatous polyposis (FAP) were examined for congenital hypertrophy of the retinal pigment epithelium (CHRPE) and extracolonic manifestations (ECM) to assess the value of CHRPE as a predictive marker for FAP. Based on eye examination results, the families were divided into 2 groups. In a first group of 34 families, all 61 members diagnosed as having polyps and 13 of the 33 patients at risk had 4 or more lesions distributed in both eyes. By contrast, in a second group of 18 families, all 32 polyposis patients and all 18 members at risk had less than 4 lesions. Extracolonic manifestations were present in 26 of 34 families in the first group and in 11 of 18 families in the second group. Data on one family with ambiguous ancestry were reviewed separately. The existence of 4 or more CHRPE lesions distributed in both eyes seems to be a congenital marker for FAP, present in 65.4 percent of families. When present in a family: 1) it is found in all diagnosed patients in that family, 2) can therefore be considered predictive for the development of polyps in other family members who carry the trait, and 3) if confirmed by longer follow-up, may possibly preclude members without the trait from further evaluation and surveillance.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02139213
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  • 4
    Electronic Resource
    Electronic Resource
    Noncytotoxic drug therapy for intra-abdominal desmoid tumor in patients with familial adenomatous polyposis (1992)
    Springer
    Diseases of the colon & rectum 35 (1992), S. 29-33 
    Details
    ISSN: 1530-0358
    Keywords: Intra-abdominal desmoid tumor ; Familial adenomatous polyposis ; Nonsteroidal anti-inflammatory drugs ; Antiestrogen drugs ; Prostaglandin synthesis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Forty of 416 patients with familial adenomatous polyposis were noted to have intra-abdominal desmoid tumors, and a subgroup of 16 were treated with noncytotoxic drug therapy. Drugs used were sulindac (14 patients), sulindac plus tamoxifen (3 patients), indomethacin (4 patients), tamoxifen (4 patients), progesterone (DEPO-PROVERA®; Upjohn Co., Kalamazoo, MI) (2 patients), and testolactone (1 patient). Therapy with these drugs for continuous periods of six months or more resulted in three complete and seven partial remissions. When treated patients were compared with untreated patients (n=12), there were significant benefits for the treated group, both in reduction of desmoid size and in improvement of symptoms, despite the inherent selection bias against this. Sulindac was the only drug used in enough patients to permit independent evaluation of its effect, with one complete and seven partial reductions of tumor size. Some patients had a delayed response to sulindac, with tumor shrinkage occurring after an initial period of tumor enlargement. When using sulindac for the treatment of desmoid tumors, this phenomenon should be considered.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02053335
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  • 5
    Electronic Resource
    Electronic Resource
    Mortality in patients with familial adenomatous polyposis (1990)
    Springer
    Diseases of the colon & rectum 33 (1990), S. 639-642 
    Details
    ISSN: 1530-0358
    Keywords: Familial adenomatous polyposis ; Colorectal carcinoma ; Desmoid tumors ; Periampullary carcinoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The authors identified 132 patients who died with a documented diagnosis of familial adenomatous polyposis (FAP). A review of the medical records, autopsy reports, and in-depth discussion with local physicians and well-informed family members was performed. It was impossible, even after the review, to ascertain the exact cause of death in 22 patients. In the remaining patients, the cause of death was as follows: metastatic colorectal carcinoma, 64 patients (58.2 percent), (colon, 49 [44.5 percent], rectal, 15 [13.6 percent]); desmoid tumors, 12 (10.9 percent); periampullary carcinoma, 9 (8.2 percent); brain tumors, 8 (7.3 percent); perioperative mortalities, 5 (4.5 percent); adrenal carcinoma, 1 (0.9 percent); and abdominal carcinomatosis, 1 (0.9 percent). Ten patients died of causes not related to FAP. The major causes of death in 36 patients who underwent prophylactic colectomy were desmoid tumor and periampullary malignancy. This finding underscores the importance of lifelong surveillance and periodic endoscopic evaluation in patients with FAP.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02150736
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  • 6
    Electronic Resource
    Electronic Resource
    Does perineal descent correlate with pudendal neuropathy? (1993)
    Springer
    Diseases of the colon & rectum 36 (1993), S. 475-483 
    Details
    ISSN: 1530-0358
    Keywords: Perineal descent ; Cinedefecography ; Electromyography ; Pudendal nerve ; Neurophysiology ; Anal physiology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A prospective study was undertaken to assess the potential correlation between increased perineal descent (IPD) and pudendal neuropathy (PN) in 213 consecutive patients. These 165 females and 48 males of a mean age of 62 (range, 18–87) years had constipation (n=115), idiopathic fecal incontinence (n=58), or chronic intractable rectal pain (n=40). All 213 patients underwent cinedefecography (CD) and bilateral pudendal nerve terminal motor latency (PNTML) assessment. Perineal descent (PD) of more than the upper limit of normal of 3.0 cm during evacuation was considered increased. Pudendal neuropathy was diagnosed when PNTML exceeded the upper limit of normal of 2.2 milliseconds. Although 65 patients (31 percent) had PD, only 16 (25 percent) of these 65 patients had neuropathy. Moreover, PN was also found in 42 (28 percent) of 148 patients without IPD. Conversely, only 16 (28 percent) of the 58 patients who had PN also had IPD, and IPD was present in 49 (32 percent) of 155 patients without PN. The frequency of PN according to the degree of IPD was: 30 to 4.0 cm, 6 of 27 patients (22 percent); 4.1 to 5.0 cm, 4 of 15 (27 percent); 5.1 to 6.0 cm, 4 of 12 (25 percent); 6.1 to 7.0 cm, 2 of 8 (25 percent); and 〉7.0 cm, 0 of 3 (0 percent). Linear regression analysis was undertaken to compare the relationships between measurements of PD at rest (R), push (P), and change (C=P−R) and values of PNTML. These values for all 213 patients were: R,r=0.048; P,r=0.031; and C,r=−0.050. The correlation coefficients were equally poor for all the individual subgroups analyzed, including the patient's sex or diagnosis. In summary, no correlation was found between PD and PNTML. The lack of a relationship was seen for the entire group as well as for those patients with either neuropathy or increased perineal descent. Therefore, the often espoused relationship between increased PD and PN was not supported by this prospective evaluation. Although increased PD and prolonged PNTML are frequently observed in patients with disordered defecation, they may represent independent findings.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02050014
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  • 7
    Electronic Resource
    Electronic Resource
    The double-stapled ileal reservoir and ileoanal anastomosis (1991)
    Springer
    Diseases of the colon & rectum 34 (1991), S. 487-494 
    Details
    ISSN: 1530-0358
    Keywords: Ileoanal reservoir ; Stapling device ; Mucosal ulcerative colitis ; Familial adenomatous polyposis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Fifteen consecutive patients (nine males and six females) who underwent construction of a double-stapled ileoanal reservoir (DS-IAR) were prospectively evaluated. Mean and maximal resting pressures preoperatively, before ileostomy closure, and at 12 months, were 53 and 84 mm Hg, 39 and 62 mm Hg, and 62 and 81 mm Hg. Mean and maximal squeeze pressures at those same time periods were 96 and 153 mm Hg, 111 and 173 mm Hg, and 95 and 168 mm Hg. There were no significant decreases in either resting or squeeze pressure between preoperative values and those obtained 12 months after surgery. However, the length of the high pressure zone decreased from 3–8 cm preoperatively to 2.3 cm at 12 months. This reflects the sacrifice of the cephalad 1.5 cm of the internal anal sphincter necessary to effect this anastomosis at a mean of 1.4 cm from the dentate line. However, this maneuver did not result in poor continence. Eleven patients whose ileostomies were closed for a mean of 9 months, ranging from 3 to 15 months, were evaluated regarding functional outcome. Only one patient had any incontinence and this patient had incomplete circularstapled tissue rings, which necessitated transanal suture repair of the anastomotic defect. Similarly, three of the four patients who sometimes or rarely use a pad at night had transanal-suture reinforcement. Ten of the 11 patients never wear a pad during the day. No pelvic or perianal sepsis occurred. Stratified squamous epithelium was found in 6 of the 13 distal stapler “donuts” that were examined. In addition, 10 patients underwent biopsy of the tissue immediately caudad to the circular staple line at the time of ileostomy closure; in five, only stratified squamous epithelium was noted. The DS-IAR is associated with excellent objective physiologic and subjective functional results.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02049935
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  • 8
    Electronic Resource
    Electronic Resource
    Neurophysiologic assessment of the anal sphincters (1991)
    Springer
    Diseases of the colon & rectum 34 (1991), S. 606-612 
    Details
    ISSN: 1530-0358
    Keywords: Electromyography ; Pudendal nerve ; Neurophysiology ; Anal sphincters ; Manometry ; Cinedefecography ; Anal physiology ; Constipation ; Fecal incontinence
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract One hundred twenty consecutive patients with either fecal incontinence (60 patients), chronic constipation (41 patients), or idiopathic intractable pelvic pain (19 patients) were prospectively assessed. Patients underwent concentric needle electromyography (EMG), bilateral pudendal nerve terminal motor latency evaluation, anorectal manometry, and cinedefecography. The most common EMG finding in patients with fecal incontinence was decreased recruitment of motor units with squeezing and polyphasic motor unit potentials; these are consistent with an injury pattern. The most common EMG finding in the constipated patients was paradoxical puborectalis contraction. This latter abnormality was also a frequent finding in patients with rectal pain, as was prolongation of pudendal nerve latency. Paradoxical puborectalis contraction was diagnosed more frequently with EMG than with cinedefecography. Inter-examination correlation was best in the incontinent group between EMG and manometry. Cinedefecography had poor correlation with EMG in all patient groups but was valuable in the detection of additional pathology such as rectoanal intussusception and anterior rectocele. Electromyography including pudendal nerve terminal motor latency assessment is a valuable adjunct in the evaluation of disorders of evacuation. The information it yields is complementary to that offered by more routine physiologic examinations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02049902
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  • 9
    Electronic Resource
    Electronic Resource
    Evaluation of polymorphic genetic markers for linkage to the familial adenomatous polyposis locus on chromosome 5 (1990)
    Springer
    Diseases of the colon & rectum 33 (1990), S. 740-744 
    Details
    ISSN: 1530-0358
    Keywords: Familial adenomatous polyposis ; Restriction fragment length polymorphism ; Chromosome 5q
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A gene associated with the inherited syndrome, familial adenomatous polyposis (FAP), has been localized to the long arm of chromosome 5 near the 5q21-22 region, and markers that identify genetic polymorphisms near this locus are now available. The authors evaluated several of these markers for linkage to the FAP trait in 11 families entered in the Cleveland Clinic Polyposis Registry. The original probe that established linkage to the FAP locus (C11p11) has limited utility for family studies because of low heterozygosity and distance from the FAP gene. Other probes, however, should be useful for assessing FAP inheritance by restriction fragment length polymorphism analysis, for presymptomatic diagnosis of the disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02052318
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  • 10
    Electronic Resource
    Electronic Resource
    The role of sphincteroplasty for fecal incontinence reevaluated: A prospective physiologic and functional review (1991)
    Springer
    Diseases of the colon & rectum 34 (1991), S. 22-30 
    Details
    ISSN: 1530-0358
    Keywords: Sphincteroplasty ; Fecal incontinence ; Manometry ; Electromyography ; Pudendal nerve
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Sixteen female patients (mean age 54.1 years; range 34–74 years) with a 9.8-year (range 1–25 years) history of incontinence to solid stool underwent overlapping sphincteroplasty with internal sphincter imbrication without fecal diversion. All patients were prospectively evaluated with preoperative anorectal manometry, electromyography, and pudendal nerve motor latency assessment, postoperative anorectal manometry, and preoperative and postoperative functional evaluation. Mean and maximal resting pressures increased from 30 mm Hg and 49 mm Hg preoperatively to 40 mm Hg and 57 mm Hg, respectively, postoperatively. Likewise, mean and maximal squeeze pressures increased from 27 mm Hg and 48 mm Hg preoperatively to 39 mm Hg and 73 mm Hg, respectively, postoperatively (P〈0.01). Furthermore, anal canal high pressure zone length was increased by sphincteroplasty from a mean of 0.9 cm (range 0–3 cm) to a mean of 2.1 cm (range 1–4 cm). These objective physiologic improvements correlated well with subjective functional improvement. Subjectively, functional outcome was rated by patients as excellent in 38 percent, good in 38 percent, fair in 19 percent, and poor in only 5 percent of cases. Overlapping sphincteroplasty with internal sphincter imbrication improves both the anal sphincter physiologic profile and fecal continence.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02050202
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