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1.
Deletion studies were performed in 26 Duchenne muscular dystrophy (DMD) patients through amplification of nine different exons by multiplex polymerase chain reaction (PCR). DNA from paraffin-embedded muscle biopsies was analyzed in 12 of the 26 patients studied. Optimization of this technique is of great utility because it enables analysis of material stored in pathology archives. PCR deletion detection, useful in DMD-affected boys, is problematic in determining the carrier state in female relatives. For this reason, to perform familial linkage diagnosis, we made use of a dinucleotide repeat polymorphism (STRP, or short tandem repeat polymorphism) located in intron 49 of the gene. We designed a new pair of primers that enabled the detection of 22 different alleles in relatives in the 14 DMD families studied. The use of this marker allowed familial diagnosis in 11 of the 14 DMD families and detection of de novo deletions in 3 of the probands.  相似文献   

2.
The aim of the study was to compare Computed Tomography (CT) and Nuclear Magnetic Resonance (MR) scan's diagnostic reliability in acute pancreatitis (AP). During a 44-month period 21 patients with a clinical and laboratory diagnosis of AP were submitted to CT and MR study. The scans were evaluated according to pancreatitis degree and presence and rate of necrosis. Pancreatitis degree was assessed using Balthazar's grading for CT scans; a similar classification was used for MR scans. Thirteen patients had oedematous pancreatitis and 8 necrotic pancreatitis. Necrosis was diagnosed intraoperatively or in non operated patients with CT scan. MR staging was identical to that of the CT ones except for 2 patients who were grade E at CT and grade D at MR. MR identified necrosis in all 8 patients with necrotic AP whereas CT diagnosed only 5 patients properly since 3 scans were performed without contrast medium infusion because of renal failure. MR proved to be a valid alternative in AP diagnosis: it provide the same diagnostic and prognostic information as CT and does not need contrast infusion, which makes it preferable to CT in the follow-up of severe AP evolution.  相似文献   

3.
OBJECTIVE: The objective of this paper was to assess the safety and efficacy of percutaneous catheter drainage for initial treatment of infected acute necrotizing pancreatitis. MATERIALS AND METHODS: Thirty-four patients with acute necrotizing pancreatitis shown with contrast-enhanced CT were treated for sepsis with percutaneous catheter drainage. Extent of necrosis was less than 30% in 10 cases, 30-50% in 10 cases, and greater than 50% in 14 cases. Fourteen patients had central necrosis. Eighteen patients were critically ill with multiorgan failure. RESULTS: Sixteen (47%) of the 34 patients were cured with only percutaneous catheter drainage, including four (29%) of the 14 patients with central gland necrosis and 12 (60%) of the 20 with body-tail necrosis. Sepsis was controlled (defervescence of fever and return of WBC to normal) in an additional nine patients, allowing elective pancreatic surgery for control of pancreatic duct fistula. Eight patients failed to show clinical improvement after drainage and required necrosectomy. No patient experienced catheter-related complications. Mortality was 12% (all four deaths occurred after necrosectomy because of multiorgan failure). CONCLUSION: Percutaneous catheter drainage is a safe and effective technique for treating infected acute necrotizing pancreatitis. Overall, sepsis was controlled in 74% of patients, permitting elective surgery for treatment of pancreatic fistula, and 47% of patients were cured with no surgery required. No catheter-related complications occurred.  相似文献   

4.
Autoimmune pancreatitis: CT and MR characteristics   总被引:1,自引:0,他引:1  
OBJECTIVE: Our goal was to elucidate the CT and MR imaging characteristics in patients with autoimmune pancreatitis, which is a reversible chronic pancreatitis with an autoimmune cause. CONCLUSION: On CT and MR imaging, a capsulelike rim, which is thought to correspond to an inflammatory process involving peripancreatic tissues, appears to be a characteristic finding of autoimmune pancreatitis. Also, diffuse pancreatic enlargement along with hypointensity on T1-weighted MR images and delayed enhancement on dynamic CT and MR studies are other features of this disorder.  相似文献   

5.
Surgical treatment for severe acute pancreatitis has not yet yielded satisfactory results. Several factors which might affect the surgical results of severe acute pancreatitis were analyzed in this study. The presence or absence of infection was not important as a factor determining the surgical results. The severity scores and some biochemical parameters such as CRP, IL-6, PMN-E, HGF seemed to be closely related to surgical results. It was likely that a significant decrease in lymphocyte counts in the blood on admission was closely related to the prognosis of the surgical patients. Timing and procedures for surgery should be more seriously considered in the treatment for patients with such poor general conditions.  相似文献   

6.
The results of treatment of 248 patients with an acute pancreatitis (AP) are analyzed. Conservative therapy was effective in 178 of them. Mortality was 0.3%. Surgical intervention was done in 64 patients, including 25 with AP, of them 2 (8%) have died; 27--with destructive AP, after cholecystectomy, drainage of bursa omentalis and abdominal cavity 15 (55.5%) died. Pancreatic resection, necrotomy, programmed relaparotomy with permanent necrotomy of pancreas and retroperitoneal cellular tissue were conducted in 17 patients, 3 (17.6%) died.  相似文献   

7.
8.
MRCP has been recognized as a safe and noninvasive diagnostic method. In the present study we evaluated the usefulness of MRCP in diagnosis of chronic and acute pancreatitis. Two-dimensional fast asymmetric spin-echo (FASE) MRCP was performed in 40 patients with chronic pancreatitis and 13 with acute pancreatitis. In 29 patients (72.5%) with chronic pancreatitis and 9 (66.7%) with acute pancreatitis, main pancreatic duct (MPD) was visualized entirely. MRCP could demonstrate the characteristic findings of chronic pancreatitis such as dilatation and irregularity of MPD in most cases. In acute pancreatitis, MRCP indicated that MPD was normal in diameter, but irregular in configuration compared with that of the control group. MRCP may facilitate the diagnosis of chronic and acute pancreatitis.  相似文献   

9.
PURPOSE: To demonstrate the feasibility of a randomized trial to compare rapid magnetic resonance (MR) imaging with plain radiography as the initial imaging study in patients with low back pain, to test measures of the decision-making process and patient outcomes, and to offer a model for using randomized clinical trials to evaluate diagnostic tests. MATERIALS AND METHODS: The authors randomly selected 62 patients with low back pain to undergo either rapid MR imaging or plain radiography. The authors measured functional status, satisfaction, and general health status at baseline and at 3 months. The modified Roland scale was the primary outcome measure. In addition, the authors examined diagnostic and therapeutic decision making and resources used by each group. RESULTS: There were no statistically significant differences between the two patient groups with respect to outcome (Roland score: MR imaging = 12.5, radiography = 12.1). MR imaging provided more useful information to clinicians and resulted in greater patient reassurance. CONCLUSION: Randomly selecting patients to undergo imaging examinations and measuring outcomes is feasible; however, a larger, multicenter study is necessary to determine whether rapid MR imaging is a cost-effective replacement for plain radiography in patients with low back pain.  相似文献   

10.
Pathophysiological theories on acute pancreatitis and its complications have been always based on the harmful role played by the activated pancreatic digestive enzymes at local and systemic levels. However, acute pancreatitis is an inflammatory disease in which a complex systemic response is produced, which involves the interaction of cells (neutrophils, monocytes/macrophages, platelets, lymphocytes, endothelial cells and fibroblasts) and different proteolytic systems (coagulation, fibrinolysis, kallikrein and complement systems). The more or less severe evolution of the disease may depend on the intensity of this inflammatory response, according to the potential capacity of its mediators to cause significant damage at local and systemic levels. The initial mechanism of this response may be the release of oxygen free radicals by the damaged pancreatic cells, which are able to activate the cascade of digestive pancreatic enzymes and initiate chemotaxis and activation of inflammatory cells. Based on the actual knowledges, the present article aims to analyze the role of the inflammatory response on the severity of acute pancreatitis.  相似文献   

11.
The mortality rate in acute pancreatitis (AP) is significantly lower in patients hospitalized directly at the intensive care unit than in patients admitted to hospital in 2 weeks after the assessment of diagnosis, prophylactic administration of low-molecular protease inhibitor reduces the occurrence of post ERCP pancreatitis a well a coincident complications. Despite rational considerations concerning the significance of pryphylactic administration of antibodies (ATB) in severe AP, there still not enough convincing data which could be recommended a standard therapy. One of the concepts of causal therapy of AP. Suggest that inhibition of exocrine pancreatic enzymatic secretion reduces autodigestion of the gland (setting the gland at rest). The reports on success of secretin-inhibiting substances a glucagon, calcitonin, atropine and somatostatin require confirmation in randomized or accurately defined comparable groups. The initial studies on the therapeutic significance of lexipanphate-antagonist of platelet activating factor (PAF) in acute pancreatitis is promising. A long-term lavage had reduced the mortality.  相似文献   

12.
Therapy in patients with acute pancreatitis (AP) is primarily conservative and follows the rules of generally accepted principles. A very important basis in the treatment of AP is the interdisciplinary approach to this disease which demands teamwork between clinicians, intensive care specialists and surgeons. Patients with a necrotising course should be hospitalised on the ICU and should receive maximum intensive care measures and antibiotics. Indications for surgical interventions in severe AP are infected pancreatic necrosis and non-response to intensive care therapy.  相似文献   

13.
14.
The diagnosis of a glomus jugulare tumour was established by MR tomography and MR angiography. MR tomography demarcated the tumour from the surrounding tissue and MR angiography showed the vascularity of the glomus tumour.  相似文献   

15.
BACKGROUND AND PURPOSE: The purpose of our study was to determine whether MR studies in the neonatal period are predictive of the neuroradiologic sequelae and clinical outcome in premature and term infants with perinatal brain injury. METHODS: Thirty subjects (15 premature and 15 term infants) with abnormalities revealed by initial MR studies were reexamined approximately 1 year after birth with both MR imaging and a neurologic assessment. All initial MR studies were performed between 35 and 45 weeks corrected age in premature infants and within 28 days of life in term infants. The initial MR studies were evaluated for deep gray matter involvement, hemispheric parenchymal change, intracranial hemorrhage, and periventricular signal and/or morphologic changes. These MR findings were compared with the follow-up MR findings and with the neurologic outcome. RESULTS: The development of cerebral palsy in premature infants was related to the following initial MR findings: subependymal hemorrhage associated with parenchymal destruction, periventricular signal alteration with irregularity of the ventricular wall, and widespread cerebral infarction. These MR findings were predictive of the subtypes of cerebral palsy. In term asphyxiated infants, T2 signal alterations of the deep gray matter rather than T1 shortening and diffuse involvement of the hemispheres were predictive of an unfavorable outcome. Both in term and premature infants, focal hemispheric parenchymal lesions alone (including infarction and intracerebral, subdural, intraventricular, and subarachnoid hemorrhage) did not produce poor outcomes. CONCLUSION: MR studies performed at or near term in either premature or term infants with perinatal brain damage are effective in predicting both late neuroradiologic and clinical outcome.  相似文献   

16.
BACKGROUND: Parenteral nutrition is well established for providing nutritional support in acute pancreatitis while avoiding pancreatic stimulation. However, it is associated with complications and high cost. Benefits of enteral feeding in other disease states prompted a comparison of early enteral feeding with total parenteral nutrition in this clinical setting. METHODS: Thirty-eight patients with acute severe pancreatitis were randomized into two groups. The first (n = 18) received enteral nutrition through a nasoenteric tube with a semi-elemental diet, while the second group (n = 20) received parenteral nutrition through a central venous catheter. Safety was assessed by clinical course of disease, laboratory findings and incidence of complications. Efficacy was determined by nitrogen balance. The cost of nutritional support was calculated. RESULTS: Enteral feeding was well tolerated without adverse effects on the course of the disease. Patients who received enteral feeding experienced fewer total complications (P < 0.05) and were at lower risk of developing septic complications (P < 0.01) than those receiving parenteral nutrition. The cost of nutritional support was three times higher in patients who received parenteral nutrition. CONCLUSION: This study suggests that early enteral nutrition should be used preferentially in patients with severe acute pancreatitis.  相似文献   

17.
Urinary naphthols, 1- and 2-naphthol, recently have been suggested as route-specific biomarkers for exposure to airborne polycyclic aromatic hydrocarbons. For the proper application of urinary naphthols as biomarkers, we studied effects of lifestyle on urinary naphthols levels in 119 Japanese male workers. After improving the detection limit of urinary naphthols up to 0.27 microg/L by high-resolution capillary gas chromatography/mass spectrometry/selected ion monitoring, urinary naphthols were detectable in approximately 90% of the subjects. Among detectable samples, the geometrical mean (GM) of urinary 1-naphthol concentration was 5.13 microg/L (geometrical standard deviation, GSD, 4.90), while the GM of urinary 2-naphthol concentration was 3.16 microg/L (GSD, 5.61). We observed that urinary 1- and 2-naphthol level were three- and sevenfold higher, respectively, among smokers than among nonsmokers (p < 0.01). The ratios of urinary 2-naphthol to 1-naphthol were significantly higher among smokers than nonsmokers (p < 0.05). The number of cigarettes smoked and urinary cotinine levels were also positively related to the concentration of urinary naphthols (p < 0.01), while other lifestyle factors, i.e., age and consumption of alcohol, greasy or salty food, sweets, fruits, vegetables, meat, or fish, were not. We also studied whether genetic polymorphisms of enzymes, which were involved in naphthalene metabolism, affected urinary naphthols levels. The cytochrome P450 (CYP) 1A1 exon 7 genetic polymorphism was not related to urinary naphthol levels. Among smokers, the subjects with c1/c2 or c2/c2 type of CYP2E1, which was determined by CYP2E1 RsaI polymorphism in 5'-flaking region, showed higher concentrations of urinary 2-naphthol than the subjects with c1/c1 type regardless of creatinine-correction (p < 0.05) and the subjects with glutathione S-transferase (GST) M1 deficient type showed higher concentrations of both urinary 1- and 2-naphthol than those with GSTM1 normal type but only without creatinine-correction (p < 0.05). Thus, when urinary naphthols are used as biomarkers, smoking and the genetic polymorphisms of CYP2E1 and GSTM1 should be considered.  相似文献   

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19.
Metrizamide (Amipaque), a nonionic water soluble contrast agent, has been shown to be safe and efficacious for lumbar myelography. Clinical trials of cervical, thoracic, and even intracranial examinations have produced good results. Despite an inherent neurotoxicity, significant complications have been quite rare, and patient tolerance in general is remarkably good. Preliminary results of metrizamide cisternograms using hypocycloidal tomography are presented to illustrate the anatomic detail which can be demonstrated using this technique.  相似文献   

20.
INTRODUCTION: MR cholangiopancreatography (MRCP) is a new noninvasive imaging technique for the study of biliopancreatic disorders, providing projectional images of the biliary tree and pancreatic duct without any contrast agent. MATERIAL AND METHODS: We used different sequences, with both breath-hold and nonbreath-hold techniques, to acquire MRCP images, first based on GE and then on FSE sequences. FSE images provide higher SNR and are less susceptible to artifacts (metal objects, motion and blood flow artifacts). At the Department of Radiology of the University of Rome La Sapienza, we acquired MRCP images with non breath-hold, 3D fat-suppressed TSE sequences (TR = 3000-2000, TE 700, turbo factor 128) optimized on a .5T magnet with 15 mT/m gradients. No patient preparation or sedation was required, although antiperistaltic drugs and oral administration of tap water were preferred. Four hundred and thirty patients were examined, all of them with an indication to conventional cholangiography. RESULTS: MRCP depicted the whole common bile duct and the first-order intrahepatic branches in all the normal cases. Its accuracy in identifying biliary obstruction level and site was 100%, versus 94.6% in characterizing its cause. MRCP had 96.3% diagnostic accuracy in choledocholithiasis, with some false positives and false negatives caused by: 1) small stones missed on MIP reconstructions; 2) signal loss due to complete CBD obstruction by stones; 3) pneumobilia; 4) differential diagnosis between small stones and air bubbles. The main role of MRCP in benign strictures is to provide a detailed map of the biliary tract for better treatment planning. In particular, MRCP is extremely useful in hepaticojejunostomy patients, where ERC is not indicated because of postoperative anatomical changes. Both conventional MRI and MRCP are important in malignant strictures to identify the lesion and to characterize and stage it. Finally, MR pancreatography is very useful to follow up chronic pancreatitis patients because it shows Wirsung duct strictures and dilatations, intraductal filling defects and, in some cases, the communication between the pseudocyst and the pancreatic duct. CONCLUSIONS: MRCP combined with conventional MRI can completely replace CT and ERCP in bilio-pancreatic disorders.  相似文献   

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