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1.
The gene responsible for X linked agammaglobulinaemia (XLA) lies in Xq22 and has recently been identified as atk. DXS101 is a polymorphic locus which is closely linked to the disease locus. In this report we describe the identification, by pulsed field gel electrophoresis, of a new polymorphism at the DXS101 locus with a predicted heterozygosity of 4.9%. Despite this low value, we show how this polymorphism has been important in carrier status determination in a family with XLA where assessment was not possible by other means.  相似文献   

2.
A patient in an intensive care unit experienced severe esophageal bleeding caused by erosion of a lusorian artery. The lusorian artery is a rare variant of the right subclavian artery. It originates in the descending aortic arch and crosses behind the esophagus to the right, sometimes generating esophageal compression. The patient's condition required respirator therapy and placement of a duodenal tube. At the point of crossing over of the lusorian artery and the esophagus, the duodenal tube caused esophageal necrosis, leading to erosion of the lusorian artery. This resulted in extensive esophageal bleeding, which at last required surgical intervention. To attain proper treatment and to avoid unnecessary diagnostic and therapeutic approaches, a lusorian artery lesion has to be included in the differential diagnosis of upper gastrointestinal bleeding.  相似文献   

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BACKGROUND/AIMS: Gastrointestinal hemorrhage is a frequent medical problem and a significant cause of morbidity and mortality. The aim of this retrospective analysis, which was carried out at our institution, was to establish the causes of hemorrhage from the upper digestive tract during a 3-year period. METHODOLOGY: The retrospective study includes those patients in which urgent endoscopic investigations of the upper digestive tract were carried out between 1 January 1994 and 31 December 1996. RESULTS: 2150 patients were investigated: 797 women and 1353 men. The average age of our patients was 57 years (a 3-97 year span, SD+/-17). In 665 patients (35.8%), endoscopic investigation of the upper digestive tube revealed signs of acute hemorrhage or traces of previous hemorrhage. Endoscopic hemostasis was carried out in 577 cases (31.1%). Sequelae of ulcer disease were the cause of hemorrhage in 46.1% of investigated patients. Frequent causes of hemorrhage were also inflammatory, hemorrhagically-erosive changes of the gastric and duodenal mucosa (21.9%), ruptured esophageal varices (9.4%), and esophageal reflux disease (8.0%). In 13.6% of patients the cause of hemorrhage did not lie in the upper digestive tract. In 50.3% of cases the gastrointestinal hemorrhage manifested itself by the discharge of melenic feces, and in 33.1% by hematemesis. 47.2% of our patients were aged over 60. CONCLUSIONS: Also in our society sequelae of ulcer disease are the most significant cause of gastrointestinal hemorrhage. Hemorrhages are frequent in elderly patients who usually have accompanying diseases.  相似文献   

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Helicobacter pylori infection is the most frequent infection in humans. It is assumed that over 50% of total world population suffer from this infection. Chronic gastritis is the most usual consequence of this infection. Development of peptic ulcer appears in case of 10 to 20 percent of infected people with the increased risk of malignancy. In the group of 819 examined patients at the Clinic for gastroenterology and hepatology of the Institute for internal diseases, the presence of helicobacter pylori was confirmed in case of 69.18% of patients. The infection was equally observed in both sexes and its frequency was higher with the increase of age, reaching its peak in the sixth decade of life (75.24%). The highest frequency was found in patients with duodenal ulcer (84.85%) and hyperplastic stomach polyp (81.82%) and lowest in case of resected stomach (56.52%). We also establish the dependence of the type and degree of pathohistological changes and the Helicobacter pylori infection.  相似文献   

5.
Elastin peptides are present in human blood. As elastin receptors exist on several cell types, especially endothelial cells, this investigation was carried out to study the effect of elastin peptides on vascular tone. For this purpose, rat aortic rings were mounted in an organ bath for isometric tension measurements. Elastin peptides (kappa-elastin) were added in the concentration range of 0.1 ng/ml to 1 microgram/ml, concentrations similar to those found in the circulating blood. In rat aortic rings, precontracted or not with noradrenaline (10(-6) M), elastin peptides induced an endothelium-dependent vasodilation. The pretreatment of aortic rings with N-omega-nitro-L-arginine methyl ester (10(-5) M), an inhibitor of nitric oxide (NO) production, or with indomethacin (10(-5) M), an inhibitor of cyclooxygenase, prevented elastin peptide-induced vasodilation. These findings suggest that elastin peptides act through the synthesis of prostanoids, leading to the production of NO. Moreover, this relaxant effect of elastin peptides was decreased or inhibited when aortic rings were treated with lactose (10(-5) to 10(-2) M) or laminin (10(-6) to 10(-4) mg/ml) whereas lactose or laminin was unable to inhibit acetylcholine-induced vasodilation. These findings suggest that the inhibitory effects of lactose and laminin are specific for elastin peptide receptors and are in agreement with previous studies on these receptors. As there is evidence of the degradation of elastin in several vascular diseases, the concept that elastin peptides may contribute to the control of vascular tone is discussed.  相似文献   

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BACKGROUND AND AIMS OF THE STUDY: The use of living, untreated autologous pericardium for patch repair in the left ventricular outflow tract was considered attractive in children. METHODS: Ventricular septal defect (VSD) closure with an untreated autologous pericardial patch was performed in 102 children of mean age 13.4 months (range: 1 to 73 months). Postoperative transthoracic Doppler echocardiography was performed in all children at a mean of nine weeks (range: one day to 50 weeks) after surgery. One pericardial patch, which was explanted at autopsy two months after surgery, was studied microscopically. RESULTS: At short-term follow up, no or only minor residual VSD was found in 97 patients, moderate VSD in two and severe VSD in one patient. One patient was reoperated for residual VSD and an aneurysmic patch first diagnosed seven days after surgery. Two more patients showed ballooning of the patch without VSD after five and seven days respectively. All aneurysmic patches were attributed to intraoperative patch oversizing. Patch integrity was confirmed in all other patients. No inflammatory or degenerative changes were observed at microscopy, rather a remodeling response had caused the patch to thicken, indicating an adaptation of the living tissue. CONCLUSIONS: The untreated autologous pericardial patch has shown to be a safe alternative for VSD closure, provided that the patch is properly sized.  相似文献   

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The electrosurgical removal of polypoid lesions from the upper gastrointestinal tract with the esophagogastro-duodenoscope has proven to be a safe, effective, and relatively inexpensive procedure. Twenty-six polypectomies performed on 24 different patients are presented. Polyps were removed from the distal esophagus, stomach, duodenum, and jejunum. There were no significant complications.  相似文献   

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Blue rubber bleb nevus syndrome is an uncommon disorder manifested by cutaneous and gastrointestinal hemangiomas and gastrointestinal hemorrhage causing anemia. We describe a young man who presented with hematemesis and melena and had multiple bluish rubber bleb-like hemangiomas over the body and in the stomach, jejunum and colon. The patient was treated with iron supplements for anemia; he is doing well 6 months later.  相似文献   

13.
OBJECTIVE: The purpose of this study was to determine the prevalence of upper gastrointestinal tract lesions in children with human immunodeficiency virus (HIV) infection who undergo endoscopy of the upper gastrointestinal tract and to identify important clinical predictors of abnormal endoscopic results. METHODS: All HIV-infected children who underwent endoscopy and were followed at Children's Hospital, Boston, from January 1985 to August 1994 were studied. The main outcome measure was endoscopic results, which were categorized into observational, histologic, and microbiologic findings. Potential predictors included height, weight, nutritional interventions, HIV disease stage, CD4 T-lymphocyte count, medications, active infections, and indications for endoscopy. RESULTS: Forty-three endoscopies in unique patients are reported. Most children had advanced HIV infection (67% acquired immunodeficiency syndrome, mean CD4 T-lymphocyte count z score = -2.71, weight z score = -2.04). An abnormal endoscopic finding was discovered in 93% of children and confirmed by histologic, microbiologic, or a combination of these studies in 72% of children. Thirty-five percent of children had an opportunistic pathogen identified endoscopically; 65% of these pathogens were previously undiagnosed. Observational findings often were poor indicators of histologic and microbiologic abnormalities. Independent predictors of abnormal histologic findings include younger age at endoscopy (odds ratio (OR) = 1.16 per year, 95% confidence interval (CI) (1.02, 1.33)) and guaiac-negative stools (OR = 16.7, 95% CI (1.92, 142.9)). Independent predictors of finding a pathogen at the time of endoscopy include a greater number of indications for endoscopy (OR = 2.6 per indication, 95% CI (1.3, 5.3)) and diagnosis of acquired immunodeficiency syndrome (OR = 16.4, 95% CI (1.3, 213)). No other gastrointestinal, nutritional, or immunologic parameters were significantly predictive of endoscopic outcomes. Medical management was changed in 70% of children because of the endoscopic findings. CONCLUSIONS: Endoscopy is a useful tool to direct therapy against peptic and infectious disorders of the upper gastrointestinal tract in children with HIV infection. Specific gastrointestinal symptoms are not useful predictors of abnormal results.  相似文献   

14.
We report a case of major lower digestive tract hemorrhage caused by an ileal lipoma. The main clinical signs of this uncommon pathology are presented together with the necessary paraclinical investigations. Ileal lipoma may be spontaneously complicated and requires surgical treatment.  相似文献   

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Mortality from radical cystectomy is still high, in some series accounting for 1-10% deaths. Morbidity is even higher and can reach 50%. This paper contributes the case of a 66-year old male patient diagnosed with an infiltrant tumour of the bladder following TUR. The patient's background included prior surgery for gastroduodenal ulcus, alcohol consumption, and obesity. Following routine pre-operatory investigations, the patient underwent radical cystectomy using routine techniques and urinary by-pass via transcolonic ureterosigmoidostomy. Increased transaminases, leucocytosis, vomiting, jaundice and extended intestinal ileum were noted during the patient's post-operative period, while blood and urine amylase concentrations were moderately high. Following CAT study, laparotomy was performed and the diagnosed confirmed. The patient died on day 14 of surgery due to secondary pulmonary complications. Post-operative pancreatitis is a low-frequency, high-mortality acknowledged complication. Even though most cases are secondary to biliarypancreatic and surrounding pancreas area surgery, it has also been described in some instances of distant surgery such as the present case. Alcohol consumption, biliary lithiasis, prior cholecystectomy and diabetes are predisposing factors. High amylase values do not always accompany this condition. Early diagnosis and treatment are crucial for the patient's prognosis. Respiratory complications are the usual cause of death in these patients.  相似文献   

17.
A unique case of haematemesis due to a pyloroduodenal ulcer caused by an erosion by a 3 cm gallstone impacted in the duodenal bulb is presented. This is the first case where the localisation of a severe haemorrhage due to a complication of a duodenal biliary fistula is identified.  相似文献   

18.
Thirty-seven cases of pseudosarcomatous lesion (PSL) are studied clinicopathologically on the upper gastrointestinal tract. Majority of the cases showed polypoid tumor lesions, and only minority of them showed non-polypoid lesions. All showed surface erosion or ulcer. Atypical proliferating cells, easily mistaken for sarcoma, were observed in the stroma. The cellular atypia of the stromal cells was related on site and shape; polypoid or non-polypoid. The lesions with severe atypia were observed mainly in the esophago-cardiac junction, lower portion of esophagus and cardia. Non-polypoid lesions showed mild atypia. Immunohistochemically, atypical stromal cells were positive only for vimentin, so considered to be fibroblastic cells. In order to avoid over-diagnosis on biopsy of the upper gastrointestinal tract, recognition of the clinicopathological features of PSL is very important.  相似文献   

19.
The prevalence of bleeding of the gastrointestinal tract is around 100/100,000 adults/year. These events need special diagnostic and therapeutic approach, which previously was located mostly to surgical departments. At the beginning of 1996 a specialized ward ("gastrointestinal bleeding unit, GBU") was created at the 2nd Dept. Medicine of the University Medical School of Debrecen. The authors give an account about their experiences with the first 250 cases, try to establish the optimal and necessary conditions and analyse the consequences of their newly developed "risk-score" system. The overall mortality was 9% during this period and surgical intervention proved to be necessary in only 10 cases. On the basis of the collected experiences, they are convinced that the described and elaborated model can well be used for the proper, up-to-date management of gasrointestinal bleeding disorders. As next they suggest an overall, regional organisation of such units, together with the correct determination and provision of the financial background.  相似文献   

20.
The Dieulafoy lesion, also referred to as exulceratio simplex, caliber-persistent artery anomaly, or cirsoid aneurysm, is a relatively rare, yet possibly fatal cause of gastrointestinal bleeding. Recent journal articles suggest that this pathological entity is not as uncommon as once thought. Advances in endoscopic technique and esophagogastroduodenoscopy (EGD) have greatly assisted in earlier diagnosis and added options to the treatment regimen for this lesion. The relationship of this anomaly to possible exsanguination makes it essential that both medical and surgical endoscopists be knowledgeable of the anatomy, diagnosis, and management of this pathology. Several therapeutic approaches to Dieulafoy's lesion are available and are described.  相似文献   

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