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Biomedical subjects

Z Cohen

Publications and source records attributed to Z Cohen.

At least 127 records · Page 7Linked to original sources

A preventive registry for hereditary nonpolyposis colorectal cancer.

Hereditary nonpolyposis colorectal cancer (HNPCC) is a genetic disorder characterized by a strong family history of colorectal and extracolonic cancers, usually at a young age. This article presents a new provincial service for families with HNPCC. The Steve Atanas Stavro Familial Gastrointestinal Cancer Registry at Mount Sinai Hospital is accruing patients that meet a set of criteria establishing a putative diagnosis of HNPCC. The objectives of the Registry are to develop and assess patient pedigrees, to coordinate screening procedures for at-risk persons, to maintain a prospective database of patient information, to provide education and support for families and to contribute to research. To date, surgeons and patients are the most common referral sources, while oncologists and geneticists are the least common. The ultimate goal of the HNPCC service is the secondary prevention of cancer and a corresponding decrease in mortality for HNPCC family members.

Colorectal Neoplasms↗

[Laparoscopic and thoracoscopic surgery in children and adolescents].

Initial experience with laparoscopic and thoracoscopic surgery in children during the year Sept. 1992-Sept. 1993 is presented. The 36 procedures included 20 appendectomies, 3 cholecystectomies, 10 upper thoracic sympathectomies, 1 bilateral oophorectomy and 2 diagnostic laparoscopies. Indications were appendicitis, symptomatic gallstones, idiopathic primary palmar hyperhidrosis, and gonadal dysgenesis (xo/xy mosaicism) in a 13-year-old girl. 2 diagnostic laparoscopies were performed for chronic abdominal pain and for a possible retroperitoneal lesion, respectively. All procedures were successfully managed without complications. In 2 cases of acute appendicitis it was necessary to change to the open conventional technique because of technical difficulties. Duration of hospitalization for cholecystectomy and sympathectomy was significantly shorter than with the conventional surgical approach and convalescence was excellent, with less postoperative pain. As for the surgical approach in acute appendicitis, we cannot as yet decide whether or not laparoscopy is superior to the conventional technique.

Abdominal Pain↗

Prolongation of rat small bowel or renal allograft survival by pretransplant transfusion and/or by varying the route of allograft venous drainage.

Lewis rats show prolongation of survival of LBNF1 renal allografts when those grafts are drained by the portal vein, or if recipients are treated with LBNF1 bone marrow cells infused via the portal venous route peritransplantation. The longest survival was seen in animals in which both portal venous transfusion and graft drainage by the portal route were performed. When the same manipulations were performed for Lewis rats receiving heterotopic small bowel transplants, only in the "combined treatment" group was there significantly enhanced graft or animal survival relative to control rats. In separate studies, we examined the mixed leukocyte proliferation response in vitro, and IL-2 production, from rats treated as above and receiving renal or small bowel transplants. In both organ transplant models, there was a good correlation between enhanced graft survival in vivo and decreased in vitro responses to specific allostimulation.

Animals↗

Characterization of two novel adenomatous polyposis coli (APC) gene mutations in patients with familial adenomatous polyposis (FAP).

Patients with Familial Adenomatous Polyposis (FAP) manifest numerous colorectal adenomas as well as benign and malignant extra-colonic lesions. Adenomatous polyposis coli (APC) gene mutations are the underlying genetic defect in FAP. We analyzed germline DNA of 81 unrelated FAP patients and evaluated correlation of APC mutation genotype and clinical phenotype. Germline APC mutations were identified in 18 FAP patients including two novel 2 bp deletions at APC codons 1067 and 1259. FAP patients were screened for hypertrophic ocular fundus lesions, desmoids and peri-ampullary adenomas. As reported previously (Olshwang et al 1993b), a positive correlation for the frequency of retinal lesions and germline APC mutation was observed among all FAP patients except one. No significant correlation was observed for APC mutation genotype and the occurrence of desmoids and peri-ampullary adenomas. Genetic factors contributing to familial segregation of these lesions need further investigation.

Adenomatous Polyposis Coli↗

Histologic and microbiologic features of biopsy samples from patients with normal and inflamed pouches.

PURPOSE: This study was undertaken to assess the electron microscopic and microbiologic findings in tissue biopsy samples from patients with pouchitis and to compare them with findings in patients with normal pouches, conventional ileostomies, and normal ileum. METHODS: Tissue samples were obtained from 78 patients: 23 patients with normal pouches endoscopically and histologically (Group 1), 12 patients with endoscopic and histologic evidence of inflammation (pouchitis) (Group 2), 14 patients who had either endoscopic or histologic evidence of inflammation but not both (Group 3), 20 patients with conventional ileostomies (Group 4), and 9 patients without ileostomies from whom biopsy samples of normal ileum were obtained (Group 5). RESULTS: The mean total aerobic facultative counts in the biopsy samples from the pouchitis patients were significantly higher when compared with biopsy samples from Groups 4 and 5 (P < 0.05). There were no significant differences in the mean anaerobic counts among the five groups. Positive cultures were obtained in 90 percent of patients with pouches compared with 69 percent of patients with conventional ileostomies or normal ileum (P < 0.05). Intramural bacteria were observed on electron microscopy in biopsy specimens of 47 percent patients with pouches compared with 14 percent of patients with conventional ileostomies or normal ileum (P < 0.05). However, the proportion of patients with positive cultures or intramural bacteria was not increased in the pouchitis group compared with the normal pouch group. CONCLUSION: These data suggest that intramural aerobic facultative bacterial counts are elevated in patients with pouchitis and may play a role in the pathogenesis of pouchitis.

Adult↗

Combined use of molecular and biomarkers for presymptomatic carrier risk assessment in familial adenomatous polyposis: implications for screening guidelines.

Predictive carrier testing for the inherited disorder of familial adenomatous polyposis (FAP) can be conducted using DNA markers linked to the FAP locus. The presence of characteristic hypertrophic retinal lesions has been advocated as useful biomarkers for FAP. We have compared molecular linkage and retinal screening techniques by evaluating the presymptomatic carrier risk of 40 at-risk individuals from 15 FAP families. Linkage analysis was informative in all and retinal lesion analysis in 25 cases. For informative at-risk population, predictive diagnosis by both techniques was completely concordant and identified 15 members at "high" and 10 at "low" risk of inheriting FAP. Because of the unique advantages offered by each technique, a strategy integrating both techniques will increase the number of FAP families that can be screened presymptomatically. Identification of individuals at high risk of polyposis will improve their clinical surveillance and further reduce the incidence of colorectal cancer in FAP families.

Adenomatous Polyposis Coli↗

Colonic fermentation and nutritional recovery in rats with massive small bowel resection.

BACKGROUND/AIMS: After massive small bowel resection, malabsorbed carbohydrates reach the colon and undergo fermentation. This study investigates the role of colonic fermentation in rats with 80% small bowel resection on weight gain, nitrogen balance, body composition, and intestinal adaptation. METHODS: Resected or transected rats were fed a liquid diet enterally for 16 days with or without 30 mg/kg metronidazole to reduce fermentation. Weight gain was monitored until the rats were killed. Carcass composition, short-chain fatty acids in cecal content, total nitrogen output, and intestinal mucosal dry weight, protein, and DNA were measured. RESULTS: Resected rats without metronidazole had a significantly better weight gain, carcass protein, nitrogen balance, and mucosal dry weight, protein, and DNA compared with that of resected rats receiving metronidazole. There were no significant differences between the two transected groups. CONCLUSIONS: Decreasing colonic fermentation, measured by short-chain fatty acids in cecal content, reduced intestinal adaptation and nutritional recovery in rats with massive small bowel resection.

Animal Nutritional Physiological Phenomena↗

Prospective evaluation of early morphological changes in pelvic ileal pouches.

BACKGROUND/AIMS: Little is known about the evolution of morphological changes in pelvic ileal-pouch mucosa. This study evaluates prospectively the sequence of early morphological, histochemical, and phenotypic features in pouch mucosal biopsy specimens. METHODS: Twenty-two patients with pelvic ileal pouches constructed after total colectomy for chronic ulcerative colitis had biopsies performed at the time of ileostomy closure and after 6 weeks and 6 months of pouch function and were evaluated to assess the type and degree of inflammation, villus atrophy, Paneth's cell hyperplasia, mucin histochemical changes, the mucosal proliferative activity using the murine monoclonal antibody 1 (MIB-1), and the expression of the enzyme sucrase-isomaltase. RESULTS: Early changes (6 weeks) were characterized by neutrophilic and eosinophilic inflammation, mild villus atrophy, Paneth's cell hyperplasia, a partial transition to colonic mucin phenotype, and an increased MIB-1 proliferation index. These features remained relatively stable after 6 months, except for a greater degree of mononuclear infiltration, a progressive increase in the degree of eosinophilic inflammation and a new higher steady state level of crypt epithelial kinetics. Expression of sucrase-isomaltase remained stable. CONCLUSIONS: Pelvic ileal pouches develop inflammatory, phenotypic, and kinetic changes early in the course of function but have only a limited potential for colonic type metaplasia. The persistence of these changes is evidence in support of an adaptive response to a new luminal environment.

Adolescent↗

Isolated torsion of the fallopian tube in premenarcheal girls.

The authors report on two premenarcheal girls, ages 4 and 13 years, with isolated torsion of the fallopian tube, an extremely rare condition. The fallopian tube was salvaged by detorsion in the younger girl, the first salvage described in the English literature on children. The mechanism of the isolated torsion and the clinical implications are discussed.

Adolescent↗

Transaxillary upper thoracic sympathectomy for primary palmar hyperhidrosis in children and adolescents.

Primary palmar hyperhidrosis is part of a triad of palmar, plantar, and axillary hyperhidrosis of unknown etiology, affecting children, adolescents, and young adults. Sixty-seven children and young adolescents were operated on during a 10-year period. A total of 103 transaxillary upper thoracic sympathectomies (36 bilateral) were performed, with no mortality. The immediate postoperative course was uneventful in 90%; the other 10% had mostly minor problems. The average hospitalization period was 3 to 4 days. Total abolition of palmar sweating was achieved in all but two patients in whom some residual moisture remained. Long-term extreme satisfaction was reported by 64 of 67 patients (94%). One was moderately satisfied, and two were not satisfied because of excessive "compensatory" sweating elsewhere. Compensatory sweating of some degree was reported by 45% of patients but did not alter satisfaction. By further limiting ganglionectomy to just one ganglion (T2 or T3), compensatory sweating possibly may be reduced further. Early surgery for severe palmar hyperhidrosis will save a child many years of agony and social discomfort because all types of conservative therapy are ineffective and cause unnecessary delay. A limited transaxillary upper thoracic sympathectomy is presently the authors' preferred approach, although ablation via thoracoscopy should not be excluded as further experience is gained with this modality.

Adolescent↗

The effect of hyperthermia (42.5 degrees C) on zymosan-induced synovitis of the knee.

Though heat has been used for many years for the treatment of painful joints such therapy rarely increases the intra-articular temperature significantly. This pilot study investigated the effect of intra-articular hyperthermia induced by microwaves from a combined heating/cooling instrument on zymosan-induced synovitis in the rabbit. There was histological evidence not only of a reduction in the intensity of the inflammatory response but also in its type with the absence of giant cell formation. However, hyperthermia was not totally without effect on the synovium of control joints and further studies are required to investigate the relevance of this effect.

Animals↗

Hepatic regulation of lymphocyte adhesion to, and activation on, syngeneic endothelial monolayers.

Endothelial monolayers were prepared from neonatal heart or liver tissue of Lewis (Le) rats. Cells in their first passage of culture were used to investigate the short-term (1 hr at 37 degrees) binding of 51Cr-labelled Le rat lymphocytes prepared from the mesenteric lymph node (MLN), peripheral lymph node (PLN) or Peyer's patches (PP) to those endothelia, or the activation by concanavalin A (Con A) or irradiated (Lewis x Brown Norway)F1 (LBNF1), of Le cells on the monolayers after 84 hr in culture. MLN and PP showed preferential binding to, and activation on, liver endothelium compared with heart endothelium (approximately twofold difference), while the converse was seen with PLN. No inhibition of binding was seen with antibodies to intracellular adhesion molecule-1 (ICAM-1) or lymphocyte function-associated antigen-1 (LFA-1). Preincubation of endothelial cells with plasma isolated from the portal or hepatic vein of normal adult mice (5% plasma, 37 degrees for 14 hr) caused a 1.5-2-fold stimulation of binding of MLN/PP to heart endothelium, which was inhibited (> or = 75%) by anti-ICAM-1 or anti-LFA-1, and a fourfold stimulation of binding to liver endothelium, which was not inhibited by these monoclonal antibodies (< or = 25% inhibition). In contrast, antibodies to tumour necrosis factor-alpha (TNF-alpha) or interleukin-6 (IL-6) caused inhibition of activation of liver endothelium (> or = 75%), while producing little affect on activation of heart endothelium. Similar results were seen when lymphocyte activation on endothelial cells rather than adhesion cells was investigated. Our data suggest a heterogeneity in lymphocyte-endothelial interactions, which is further regulated, under physiological conditions, by the liver.

Animals↗

Melkersson-Rosenthal syndrome.

Four patients with recurrent upper lip and facial swelling and lingua plicata together with peripheral facial nerve palsy involvement were diagnosed as having Melkersson-Rosenthal syndrome. Because of the rarity of this syndrome in children, we present the results of follow-up evaluations of our patients and review the literature.

Child↗

[Hirschprung's disease in the Negev].

We treated 65 children with proven Hirschprung's disease between 1970-1992. After definitive surgery, 35 were over 10 years of age and 13 were over 18. The male:female ratio was 4:1. All but 3 were born full-term. 44% were of Bedouin origin, with a higher prevalence in 3 families of 2 tribes. 38 (58%) were diagnosed in the neonatal period: by barium enema and rectal muscle biopsy in 42 (65%), and by barium enema alone in 23 (35%). In the latter the diagnosis was verified by intra-operative biopsy. Severe constipation, intestinal obstruction or enterocolitis were the presenting features. 19 associated anomalies were found in 12 children, but none was life-threatening; 5 (8%) had cardiac anomalies; none had Down's syndrome. The rectosigmoid colon was the most common aganglionic segment involved (only 1 had total colonic aganglionosis). 7 of the 8 with short segment involvement responded well to posterior rectal myectomy. 55 patients had an abdominoperineal pull-through: 48 by Swenson's procedure and 5 by the Soave and 2 by the Duhamel modifications. In 43 a protective colostomy was performed at the end of the procedure. 53 had complete diversion colostomy at the time of initial diagnosis (neonatal and early infancy). There was no intra- or immediate post-operative death. 1 patient died 2 months after operation of complications following enterocolitis and total parenteral nutrition. 2 died a few hours after admission of severe sepsis due to enterocolitis before operation was possible. There were early postoperative complications in 11% of the 151 operations, mostly minor wound infections.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗