Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.
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Biomedical subjects
Publications and source records attributed to L Tankova.
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Polyposis of the colon is a colon cancer predisposition syndrome. Familial adenomatous polyposis (FAP) accounts for 1% of the cases of inherited colorectal cancer (CRC). The National Register of inherited CRC and polyposis of the intestines keeps track of 18 patients from 14 families with FAP. Eight of them have been operated of CRC, on 6 patients preventive colectomy with ileorectal anastomosis has been done and four patients refused surgery. Colectomy has been done due to the malignant development also on a female patient with difused juvenile polyposis with adenomatosis. Of three patients under surveillance with the Peutz-Jeghers syndrome, surgery has been done on one female patient with ileus and bleeding large polyps.
UNLABELLED: According to up-to-date concepts for local spread of a rectal cancer it is possible to perform a radical rectal resection with a restorative anastomosis inspite of the fact that the tumor is located in the middle or the distal third of the rectum. Usually a total resection of the rectum and coloanal anstomosis have to be performed. There are two ways to restore the continuity of the gut: a straight coloanal anstomosis or J pouch anastomosis. 22 patients with rectal cancer localized between 4 and 9 cm from the anal verge, were operated and restorative anastomoses were performed. The first 18 patients were with a straight coloanal anastomosis. In the last 4 cases coloanal anastomoses were done between the anus and colocolic 7 cm J pouch. During the first month there were 6 patients with total and 9 with partial incontinence in the group with straight coloanal anastomosis. Transrectal sonography confirmed contractility of the puborectal muscle and sphinctermanometry showed lower resting tone and squeeze pressure in cases with incotinence. No incontinence was observed in the group with J pouch and the shinctermanometry data were the same as these of healthy controls. CONCLUSION: The rectal ampula has reservoir function and its loss after total resection of the rectum is the reason for frequent bowel movements, urgency and leakage. Reconstruction with a colonic J pouch is associated with better bowel function compared to the straight coloanal anastomosis.
Anorectal disturbances are one of the most frequent functional bowel disorders. A lot of motor- and sensor anorectal tests are available. At the same time in Bulgaria anorectal disorders are unknown for the most of the gastroenterologists and surgeons, and that's why they are misdiagnosed and not treated correct. The aim of our paper is to summarize the experience with these techniques in patients with anorectal disorders. We are giving the definition of fecal incontinence, constipation, levator ani syndrome and proctalgia fugas. We revue some aspects of anatomy and physiology of the anorectum. We introduce all anorectal functional tests, the place of the tests in diagnostic algorithm, and the real value of each single test to conform diagnosis of common syndromes.
The aim of this study is to determine the diagnostic potential of endoluminal echography and the pitfalls sources in the preoperative staging and postoperative follow-up in patients with rectal cancer. 245 patients with rectal carcinoma are evaluated during 10 years period (Jan. 1993-Jan. 2002 years). 96 patients are monitored in the early and late postoperative periods for the early detection of local recurrence as well as for the anorectal physiology assessment after low anterior rectal resection or coloanal anastomosis. Lineal transducer UST-657-5MHz (Aloka 620) and 10MHz miniprobe are applied. The accuracy for T-staging is 84% and for N-staging is 82%. The local recurrence is detected in 21 patients, on average 12.6 months after curative surgery. The local recurrence is more often in cases of lymph node involvement as well as if some specific echographic features for extramural vascular invasion are present. Endoluminal echography provides individual therapeutic management and postoperative control in patients with rectal cancer.
AIM: To assess the efficacy and patient compliance of topical mononitrate hydrogel for the treatment of anal fissure. MATERIALS AND METHODS: Nineteen patients with symptomatic chronic anal fissures were randomly allocated to receive either active (10 patients) or placebo (nine patients) gel treatment. Rectal administration of hydrogel containing 0.2% isosorbide-5-mononitrate was prescribed. Patients were instructed on its application to the anal canal twice daily for 3 weeks. A questionnaire was used to determine patient compliance with therapy. Anal manometry was performed before and after therapy. RESULTS: At the end of therapy, the fissures were healed in 80% of actively treated patients compared with 22% of the control group. There was a mean reduction of 28% in mean resting anal pressure. Two actively treated patients (20%) suffered from mild headache relieved with oral analgesics and menthol lozenges. Faecal incontinence was not observed. There were no recurrences during at least 3 months of follow-up. CONCLUSIONS: Topical mononitrate gel therapy of anal fissures is an effective and safe approach. In this study, the few cases of headache were rapidly relieved with oral analgesia and menthol lozenges.
Our aim was to evaluate the anorectal changes in patients with fecal incontinence by using different endoultrasound techniques. Eighteen females with fecal incontinence and 14 healthy controls (females) were examined. Rigid linear transducer and 10 MHz radial scanning miniprobe were used. Statistically significant difference was found in the mean percentage of decreasing of the anorectal angle during contraction between healthy subjects (21.4%) and incontinent patients (7.5%). The mean percentage of shortening of the puborectal muscle length during squeezing was significantly lower in patients (9.6%) than in controls (17.9%). By means of miniprobe the anal sphincter defects were clearly demonstrated. Endosonography with a radial scanning miniprobe and rigid linear transducer ensures complex morphological and functional assessment of the anorectal region.
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The non-antiarrhythmic drugs, which possess antiarrhythmic properties could induce dangerous, potentially fatal arrhythmias--extrasystoles, ventricular tachycardia, sudden cardiac arrest. The arrhythmogenic properties are due to block of the potassium channels of the cells and are realized by prolongation of the QT interval on ECG. Accelerating mechanisms are the bradycardia and the hypokalemia. Such drugs are the H1 blockers--astemisol (hismanal) and terfenadine, the prokinetic cisaprid (prepulsid, propulsid, coordinax) and the macrolides. These preparations should be carefully prescribed and not combined with each other, as well as, with antiarrhythmics and blockers of the cytochrome oxidase system (antifungal antibiotics, metronidazole, cyprofloxacin, antidepressants). During their use the patients have to be followed up for changes in QT, bradycardia, arrhythmia, hypokalemia.
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Transrectal echography using a high-frequency transducer is a well established method for preoperative rectal carcinoma assessment, and for postoperative follow-up of patients with anterior resection for rectal carcinoma. Having in mind the impossibility for follow-up study of patients with abdominal perineal extirpation of the rectum by transrectal echography, a new pattern of application of the transducer employed for endorectal examination is suggested. In five patients (4 women and 1 man) endocavitary echography through the anal canal is done. In women the examination is supplemented by transvaginal echography. A local recurrence in the course, of transvaginal study is recorded in one patient. The technique of examination and the superiorities of the procedure are discussed.
The clinical relevance of laparoscopy (LS) and laparoscopic echography (LSEG) in diagnosing and staging gastrointestinal carcinomas is assayed in the light of diagnostic methods in current use. The study covers 257 patients undergoing LS, and 23-LSEG. For the purpose a rigid 7.5 MHz echolaparoscopic probe is used. In 16 per cent of the cases LS fails to resolve the basic diagnostic problems faced, whereas in 35 per cent it alters completely the preliminary clinical diagnosis. In over 90 per cent of cases LSEG supplements or modifies the laparoscopic diagnosis. Emphasis is laid on the role played by LSEG in defining the loco-regional stage of gastric and colorectal carcinomas, as well as on the contribution of the method to establish pancreatic carcinomas not lending themselves to resection. What is more, LSEG demonstrates inoperable cases by detecting small, unsuspected metastases, not prominating above the hepatic surface.
On the basis of 104 hemangiomas diagnosed in 81 patients an ultrasound classification of the disease is made which includes four basic variants. Echotomography detects the tumor most successfully in group I (well outlined homogenous hyperechogenisity) while in the other groups it shows a low percentage of correct diagnoses. The average sensitivity of the method is 60.6%. The possibilities of the other basic diagnostic methods are discussed and a scheme for clinical investigation is proposed. Scintigraphy is of no substantial help, computed tomography increases the percentage of the correct diagnoses, angiography and correctly indicated laparoscopy most often end the clinical investigation. The patients with hemangioma are subjected to a prolonged clinical follow up and ultrasound tomography is the best suitable method for this.