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Biomedical subjects

A M Roe

Publications and source records attributed to A M Roe.

At least 19 recordsLinked to original sources
PubMed1997

Linkage studies suggest a possible locus for bipolar disorder near the velo-cardio-facial syndrome region on chromosome 22.

Velo-cardio-facial syndrome (VCFS) is a congenital anomaly characterized by multiple dysmorphisms, cleft palate, cardiac anomalies, and learning disabilities, that results from a microdeletion of chromosome 22q11. An increased prevalence of psychiatric illness has been observed, with both schizophrenia and bipolar disorder commonly being diagnosed. For these reasons, the VCFS region is an interesting candidate region for bipolar disorder. We examined this region in 17 bipolar families from three populations: 13 families from the general North American population (University of California, San Diego/University of British Columbia, UCSD/UBC), three larger families from New York, and a portion of Old Order Amish pedigree 110. Three microsatellite markers spanning 13 cM around the VCFS region were genotyped in all the families. A maximum lod score of 2.51 was obtained in the UCSD/UBC families under a dominant model at D22S303. In the combined family set, maximum lod scores of 1.68 and 1.28 were obtained at this marker under dominant and recessive models, respectively. Four additional markers were subsequently typed in selected positive families, and yielded positive lods at 6 of 7 markers spanning 18 cM in this region. Nonparametric, multipoint analyses using the affected pedigree member (APM) method also yielded suggestive evidence for linkage in both the UCSD/UBC family set (P = 0.0024) and in the combined families (P = 0.017). Affected sibpair analyses were similarly positive in the UCSD/UBC families (P = 0.017), and in the combined families (P = 0.004). These results are suggestive of a possible locus for bipolar disorder near the VCFS region on chromosome 22.

Abnormalities, Multiple↗
PubMed1994

Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1.

By the principle of identity by descent, parental consanguinity in individuals with rare recessively transmitted disorders dictates homozygosity not just at the mutated disease-associated locus but also at sequences that flank that locus closely. In 25 of 26 individuals with Bloom syndrome examined whose parents were related, a polymorphic tetranucleotide repeat in an intron of the protooncogene FES was homozygous, far more often than expected (P < 0.0001 by chi 2). Therefore, BLM, the gene that when mutated gives rise to Bloom syndrome, is tightly linked to FES, a gene whose chromosome position is known to be 15q26.1. This successful approach to the assignment of the Bloom syndrome locus to one short segment of the human genome simultaneously (i) demonstrates the power of homozygosity mapping and (ii) becomes the first step in a "reverse" genetics definition of the primary defect in Bloom syndrome.

Alleles↗
PubMed1994

Structure of the beta-blocker/vasodilator agent prizidilol, DL-6-(2-[3-(tert-butylamino)-2-hydroxypropoxylphenyl)-3-pyridazinylhydr azine hemisulfate monohydrate.

Prizidilol, a compound combining vasodilator and beta-blocker functionalities in the same molecule, has been synthesized and characterized by Smith Kline and French Research Ltd. Crystal data: C17H25N5O2 x 1/2H2SO4 x H2O, M(r) = 398.47, orthorhombic, a = 10.722 (2), b = 11.635 (6), c = 34.105 (3) A, V = 4254.61 A3, Pbnm (non-standard form of Pnma) (D16(2h), No. 62), Z = 8, F(000) = 1704, Dx = 1.244 Mg m-3, mu(Cu K alpha) = 11.673 cm-1, R = 0.064 for 2432 independent reflections with I > 3 sigma(I). Prizidilol shows strong conformational similarities to propranolol and is protonated at the secondary amine. The 6-phenyl-3-hydrazinopyridazine residue is not planar. The hydroxy group at the asymmetric carbon is disordered so that both enantiomers are found at each molecular site. The sulfate ions and disordered water molecules lie in the crystallographic mirror plane.

Adrenergic beta-Antagonists↗
PubMed1994

Intracorporeal laparoscopic resections for colorectal cancer: report of cases of abdominoperineal rectal excision and right hemicolectomy with 2 year follow-up.

Techniques for total intracorporeal laparoscopic abdominoperineal excision of rectum and right hemicolectomy for colorectal cancer are described in two patients with 2-year follow-up. Potential advantages over laparoscopically assisted procedures may be offset by increased operating time and expense for right hemicolectomy but the laparoscopic approach seems well suited to abdominoperineal rectal excision. The use of a secure retrieval system is advocated for specimen removal after right hemicolectomy.

Adenocarcinoma↗
PubMed1994

Indications for laparoscopic formation of intestinal stomas.

A laparoscopic technique for formation of intestinal stomas is described and reported in four cases. The procedure has a role where difficulties with trephine stoma formation are anticipated, where simultaneous laparoscopic procedures are performed, and where accurate assessment of the extent of intra-abdominal malignancy is indicated.

Abdomen↗
PubMed1994

Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome.

Bloom syndrome (BS) is more common in the Ashkenazi Jewish than in any other population. Approximately 1 in 110 Ashkenazi Jews carries blm, the BS mutation. The locus mutated in BS, BLM, maps to chromosome subband 15q26.1, tightly linked to the proto-oncogene FES. We have investigated the basis for the increased frequency of blm in the Ashkenazim by genotyping polymorphic microsatellite loci tightly linked to BLM in affected and unaffected individuals from Ashkenazi Jewish and non-Ashkenazi populations. A striking association of the C3 allele at FES with blm (delta = .422; p = 5.52 x 10(-7)) and of the 145-bp and 147-bp alleles at D15S127 with blm (delta = .392 and delta = .483, respectively; p = 2.8 x 10(-5) and p = 5.4 x 10(-7), respectively) was detected in Ashkenazi Jews with BS. This linkage disequilibrium constitutes strong support for a founder-effect hypothesis: the chromosome in the hypothetical founder who carried blm also carried the C3 allele at FES and either the 145-bp or the 147-bp allele at D15S127.

Bloom Syndrome↗
PubMed1993

Diversion colitis and involution of the defunctioned anorectum.

To measure the effects of defunction in the anorectum, 12 patients (seven men and five women aged 59 (44-81) years) were studied after the Hartmann operation. The operation was for septic complications of diverticular disease in nine and sigmoid carcinoma in three patients. Physiology studies were undertaken 1 and 3 months after surgery, and diversion colitis was assessed endoscopically and by mucosal biopsy at 3 months. There was no change in anal sphincter function by three months. Proctometrogram studies, however, showed an appreciable decrease in rectal volume in all cases, by a mean of 35% of the 1 month volume. The maximum tolerable volume at 1 month was 157 (111-210) ml and at 3 months 87 (71-145) ml; p < 0.01. There was no change in rectal sensation or compliance. Erythema and granularity without gross erosions or ulceration were found at endoscopy. Histology showed abnormalities in all cases by 3 months. The characteristic features were of a chronic inflammatory cell infiltrate with surface exudate, microscopic erosions, and lymphoid follicular hyperplasia. Crypt abscesses were not a feature at this stage and there was no distortion of crypt architecture. After defunction the previously normal rectum is affected by diversion colitis which, at 3 months, is mild but has characteristics that distinguish the changes from those of inflammatory bowel disease. It is associated with progressive rectal stump involution.

Adult↗
PubMed1991

Anismus in patients with normal and slow transit constipation.

This study examined differences in anorectal function, with particular reference to anismus, which might explain why some patients with intractable constipation have slow and others have normal whole gut transit times. Twenty-four patients were studied; 13 with slow transit (all female, median age 32 years, range 16-52 years) and 11 with normal transit (eight women, three men, median age 37 years, range 21-60 years). Videoproctography with synchronous sphincteric electromyography and anorectal manometry was performed. There were no differences between the two groups, suggesting that slow transit constipation is not secondary to any abnormality in anorectal function and may therefore be a primary disorder of colonic motility. There was no correlation between electromyographic evidence of anismus (pelvic floor contraction on defaecation) and the ability of the patient to evacute the rectum or symptoms of obstructed defaecation. Electromyography findings alone can be misleading and should be related to proctographic evidence of incomplete rectal evacuation before functional anismus can be said to be present.

Adolescent↗
PubMed1991

Reversal of Hartmann's procedure: timing and operative technique.

A review of closure of Hartmann's colostomy was undertaken to establish guidelines for the timing and technique of reversal. Between 1984 and 1990 there were 69 reversals; 48 patients originally had diverticular disease and 21 had carcinoma. One-third underwent reversal before 4 months and two-thirds after this time. The operative mortality rate was 3 per cent and the anastomotic leak rate 4 per cent. Significant morbidity occurred in 30 per cent. There was no advantage in delayed closure. Complications occurred in 24 per cent of patients undergoing reversal before and 35 per cent undergoing reversal after 4 months. Thirty-five anastomoses were hand-sewn and 34 stapled. There were no differences in operating time for the two techniques, but a greater number were stapled after 4 months than before (P less than 0.05), which may reflect increased rectal stump shrinkage with time. There were no differences in complication rates whether the anastomosis was hand-sewn (34 per cent) or stapled (26 per cent). Closure of Hartmann's colostomy is a safe procedure but has a significant morbidity in nearly one-third of cases. On the basis of these results, there is no indication to delay closure after 4 months have elapsed, and earlier reversal, when the rectal stump is most accessible, is recommended.

Anastomosis, Surgical↗
PubMed1991

Rectopexy is an ineffective treatment for obstructed defecation.

The symptoms of obstructed defecation have been attributed to rectal intussusception, and thus rectopexy has been advocated in the surgical management. In this study, patients with obstructed defecation underwent manometry and proctography before and after rectopexy. Seventeen patients (16 females and one male, mean age 51.6 years) were studied. Eleven underwent anterior and posterior fixation of the rectum and six had posterior fixation only. Preoperatively five patients demonstrated rectoanal intussusceptions. Fifteen had significant pelvic descent. No significant change in maximum resting pressure, maximum voluntary contraction, pelvic descent, or anorectal angle was seen postoperatively. In the initial follow-up, many patients had significant amelioration of symptoms. However, on longer follow-up (mean 30.8 months) only two had long-term improvement. The remainder had a poor clinical result in spite of complete resolution of rectal intussusception. Many reported a worsening of symptoms as reflected by an increase in tenesmus and stool frequency. In the two cases with a satisfactory result, both could empty the rectum completely and demonstrated rectoanal intussusception on preoperative evacuation proctography. In those with poor results, four had complete emptying and three had rectoanal intussusception. In conclusion rectopexy is an ineffective treatment for obstructive defecation in most patients.

Adult↗
PubMed1990

Improvement of anal sensation with preservation of the anal transition zone after ileoanal anastomosis for ulcerative colitis.

One of the most important considerations in restorative proctocolectomy for ulcerative colitis is postoperative continence. Preservation of the anal transition zone has been associated with improved results after this procedure in the pediatric age group. This study was carried out to determine the effect of preservation of the amal transition zone in adult patients undergoing restorative proctocolectomy, comparing a group of patients with the anal transition zone preserved with a group of patients with the anal transition zone removed. Physiologic testing demonstrated improved sensation in those patients with a preserved anal transition zone. Functional results were not significantly improved, although there was a trend toward improved continence and discrimination in those with the anal transition zone preserved. Although the results are early and are not conclusive from the clinical standpoint, they are certainly encouraging and may justify continued use of this technique.

Adult↗
PubMed1988

Assessment of microtransducers in anorectal manometry.

It has been reported that microtransducer-tipped catheters (transducer) produce reliable reproducible measurements which correlate well with water-filled balloon systems. Maximum resting pressure (MRP) and maximum voluntary contraction pressures (MVC) were compared using a standard station pull-through technique in 12 patients. There was a poor correlation for both MRP: microballoon, 115 cmH2O (60-160 cmH2O); transducer 60 (20-110), r = 0.62, P less than 0.05, and MVC: microballoon, 202 (60-375); transducer, 175 (60-210), r = 0.42, n.s. To determine whether this was due to radial variation in pressures measured by the transducer, we studied a further 39 patients with both systems. At each station, transducer measurements were made at each of four quadrants. We found better correlation for MRP: microballoon, 100 (40-175); transducer, 66 (34-120), r = 0.72, P less than 0.001, and MVC: microballoon, 225 (55-650); transducer, 180 (50-470), r = 0.87, P less than 0.001, but a significant radial variation for the transducer where rotation reduced MRP pressure measurements by 21 per cent (0-600 per cent), and MVC 17 per cent (0-76 per cent). Moreover there was a significant difference between anterior and posterior MRP in the upper anal canal, anterior 35 (5-80) versus posterior 25 (10-60), P less than 0.05. These results account for the poor correlation between random positioning of the microtransducer-tipped catheter and indicate that radial orientation must be taken into account.

Anal Canal↗
PubMed1988

Slow transit constipation. Comparison between patients with or without previous hysterectomy.

We have studied 31 patients with slow transit constipation. Fourteen developed severe symptoms following a hysterectomy, while the remainder had symptoms arising de novo and unrelated to pelvic surgery. To establish whether there were specific abnormalities which might be linked to hysterectomy, we compared the two groups. Rectosigmoid motility was impaired in the de novo group. Functional sphincter length, maximum resting anal canal pressure, and the rectoanal inhibitory reflex were not significantly different from controls. The majority of patients were able to significantly increase the anorectal angle on straining to defecate. Patients in the de novo group had a higher sensory threshold for rectal filling compared with controls, whereas the posthysterectomy group was not significantly different. Electromyography of the external sphincter showed failure of appropriate inhibition of resting activity in 57% of the de novo and 38% of posthysterectomy patients. The de novo group had hypoactivity of the rectosigmoid and an insensitive rectum. The abnormality in the hysterectomy group is less clear and any precise link between slow transit constipation and hysterectomy remains obscure.

Adult↗
PubMed1988

An analysis of rectal morphology in obstructed defaecation.

Obstructed defaecation in the descending perineum syndrome has been attributed to anterior mucosal prolapse. Manometric and radiological measurements together with evacuation proctograms in 49 patients with obstructed defaecation and normal whole gut transit times were carried out and compared in a total of 25 controls. Proctography delineated four groups: (I) puborectalis accentuation, n = 11; (II) rectal intussusception, n = 25; (III) anterior rectal wall prolapse, n = 11; (IV) rectocele, n = 2. The anorectal angle at rest, maximum basal sphincter pressures and the rectoanal inhibitory reflex did not differ between the groups and controls. Group III achieved a greater increase in anorectal angle on straining than controls. Groups II and III exhibited significant perineal descent below the pubococcygeal line whereas group I did not. In perineal descent intussusception was the commonest morphological abnormality associated with obstructed defaecation. Isolated anterior mucosal prolapse was not observed, making local treatment aimed at reducing its bulk questionable.

Adult↗