Biomedical subjects

M Cremer

Publications and source records attributed to M Cremer.

At least 19 recordsLinked to original sources

PubMed1992

Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy.

Duchenne muscular dystrophy (DMD) and the allelic milder form of Becker muscular dystrophy (BMD) are caused by mutations of the dystrophin gene on the short arm of the X chromosome. One third of affected individuals are expected to result from de novo mutations. Genetic counselling of families with sporadic cases is complicated by the potential meiotic origin of the mutation in the mother resulting in germline mosaicism. Here we present direct evidence for combined somatic and germline mosaicism for a deletion of the dystrophin gene, thereby proving the mitotic origin of this deletion and pinpointing a further potential pitfall for genetic counselling. The mother of a BMD son and a BMD carrier daughter, both carrying a deletion of dystrophin cDNA 7 (0.5 kb Hind III fragment) and cDNA 8, was herself clinically healthy and had normal creatine kinase levels. A muscle specimen of the mother showed mild overall pathology as well as focal dystrophin deficiency. In contrast chromosomal in situ suppression (CISS) hybridization of metaphase chromosomes using a cosmid clone of the corresponding cDNA deleted in her son revealed no evidence of somatic mosaicism in their lymphocytes. These results emphasize the value of an approach correlating genetic and immunological data for the definition of a carrier state in BMD or DMD. The possibility of somatic mosaicism should be considered when genetic counselling of a family with a sporadic case of BMD or DMD is performed.

Blotting, Southern↗

PubMed1992

Extracorporeal shock-wave lithotripsy of pancreatic calculi.

Extracorporeal shock-wave lithotripsy (ESWL) has been used to disintegrate pancreatic stones located in the main pancreatic duct for 123 patients with severe chronic pancreatitis. Endoscopic management following ESWL is aimed at restoring the pancreatic flow to the duodenum. Stone disintegration was achieved in 122 patients, whereas a decrease in the main pancreatic duct diameter resulted in 111, and complete clearance of the main pancreatic duct was obtained in 72. Pain relief, complete (40/88) or partial (35/88), correlated significantly with the results of the endoscopic drainage of the main pancreatic duct (e.g., decrease in main pancreatic duct diameter). Relapsing pain was most often related to recurrent pancreatic duct obstruction. Of 76 patients whose body weight had decreased before ESWL, 54 gained weight. Improvement of the exocrine function, evaluated by the [14C]triolein breath test before and 11 months, on the average, after ESWL, was observed in 12 patients among 22 for whom this test was performed before and after treatment. Improvement of the endocrine function after relief of obstruction of the main pancreatic duct was less frequently recorded (4/41). ESWL of pancreatic stones is a new, safe, and highly effective method of facilitating the endoscopic procedures for relief of pancreatic duct obstruction in severe chronic pancreatitis.

Adolescent↗

PubMed1992

Biliary stent occlusion--a problem solved with self-expanding metal stents? European Wallstent Study Group.

The main limitation in the endoscopic palliation of malignant biliary obstruction is due to stent blockage. One of the factors thought to be of importance is the diameter of the endoprosthesis. In this paper, we report the results of a multicenter European study with a one cm diameter self-expanding metal stent (Wallstent) in 103 patients with malignant biliary obstruction. Insertion of the stent following guidewire positioning was successful in 97.1% of the patients without any cases of de novo cholangitis developing after the endoscopic procedure. The median follow-up for the entire group was 145 days. In all but 3 patients, the stent expanded to more than 80% of its maximum diameter. Two patients had ongoing cholangitis after stent insertion. Long-term complications manifested by late cholangitis, were seen in 18% of the cases after a median interval of 125 days. The occlusion rate by biliary sludge was 5% after a median time period of 175 days which is substantially less than the 21% occlusion rate reported for polyethylene stents. In conclusion, our results show that the Wallstent can be easily placed in distal and mid-CBD strictures after guidewire passage, with most of the patients having a- good drainage effect. The occlusion rate by biliary sludge is significantly less than for conventional polyethylene stents, but the occlusion by tumor ingrowth is substantial. A disadvantage is the high cost of the Wallstent. Further randomized trials will be required to determine the cost-benefit ratio for the use of this stent.

Adult↗

PubMed1992

Stenting in severe chronic pancreatitis: results of medium-term follow-up in seventy-six patients.

Between January 1985 and September 1989, 75 patients presenting with severe chronic pancreatitis with distal stricture and upstream dilatation underwent stenting of the main pancreatic duct (MPD) through the major papilla (n = 54) or minor papilla (n = 21) in order to drain the predominant duct through a 10F plastic prosthesis. All patients had undergone biliary and pancreatic sphincterotomy with a few cases of complications, and the majority (84%) also ESWL in the period from October 1987 onwards without complications. Relief of pain (94%) occurred parallel to a decrease in the MPD diameter. In a mean follow-up period of 37 months improvement of the nutrition status and relief of pain was seen. Clogging of these large plastic stents was treated by replacement or by another endoscopic or surgical procedure. Complications were treated endoscopically. Further measures necessary due to failure of stenting consisted of laterolateral pancreatico-jejunostomy in 15% of patients and placement of self-expanding 18F metal mesh stents in 29%. There was no mortality due to surgery. It is concluded that stenting of distal strictures in the MPD can lead to rapid resolution of pancreatic pain due to ductal hypertension and is the best means for determining the cause of pain, providing an alternative to surgery. Significant improvement of a stricture by prolonged stenting is however unusual, and such patients treated endoscopically require close follow-up with stent replacement approximately once a year.

Adult↗

PubMed1991

Management of dysphagia in suspected esophageal motor disorders.

Fifty-three patients suffering from dysphagia because of suspected esophageal motor disorders were treated by pneumatic dilatation using the Rider-Moeller technique. Fifteen had achalasia demonstrated by manometric studies. Forty-nine of them had remarkable clinical improvement after the procedure. During the mean period of follow-up (average 5 years, range 1-11), 75% of the patients needed a new dilatation, with a delay of two years. The results of the dilatation were excellent or good in 80% of the cases. Early complications consisted in two esophageal perforations surgically treated. There was no mortality. We did not observe late complications of the procedure. We conclude that pneumatic dilatation should be the initial procedure in the treatment of dysphagia in suspected esophageal motor disorders.

Aged↗

PubMed1991

Intraductal mucin-hypersecreting neoplasms of the pancreas. A clinicopathologic study of eight patients.

Intraductal mucin-hypersecreting neoplasms of the pancreas with extreme dilatation of the main duct were studied in eight patients. They included five men and three women, aged 47-85 years. Five patients had a history of symptoms mimicking pancreatitis; four developed steatorrhea and/or diabetes. At endoscopic retrograde pancreatography, five patients showed an open ampulla filled with mucin, and six patients showed patchy filling defects in the ectatic main duct. Morphological examination showed extreme dilatation of the entire pancreatic duct in six patients and its tail segment in two patients. The duct segments filled with viscous mucin were lined by well-differentiated mucin-secreting cells, forming papillary foldings and occasionally showing cellular atypia. None of the patients had invasive tumor or metastasis. Six patients whose lesions were resected are alive and doing well (mean follow-up, 5.5 years). It is concluded that intraductal mucin-hypersecreting neoplasm is a pancreatic tumor with favorable prognosis. Because it shares many features with intraductal papillary neoplasm, a common pathogenesis of these pancreatic tumors is suggested.

Adenocarcinoma, Mucinous↗

PubMed1991

Risk factors for septicemia following endoscopic biliary stenting.

The purpose of this study was to identify patients who were more likely to experience septicemia after endoscopic biliary drainage. In an attempt to determine the relative importance of each risk factor and their possible interdependancy to more precisely identify high-risk patients and to deduce some guidelines for prevention, a discriminant regression analysis of risk factors for septicemia was used. Clinical, biological, and radiological data of 34 consecutive patients who experienced septicemia within 3 days after endoscopic biliary stenting were reviewed retrospectively and compared with data of a group of 71 patients without any septic complication. If only data available before the procedure were used in the discriminant analysis, prior cholangitis and leucocytosis appeared as significant risk factors, but the linear combination of these data could not predict septicemia in 50% of cases. When information concerning the quality of drainage after the procedure was introduced into the analysis, 91% of the septicemic patients were identified, and other expected risk factors such as the nature of the stricture, the type of drainage, or prior cholangitis and leukocytosis had no or marginal predictive values. Patients referred from centers where duodenoscopes might have been poorly disinfected appeared to be at higher risk for Pseudomonas aeruginosa septicemia. These results emphasize the crucial role of the quality of drainage as a risk for septicemia. Regarding the prevention of infection, it is concluded from this study that (a) pure diagnostic endoscopic retrograde cholangiopancreatography should be avoided in obstructed patients if drainage cannot be performed during the same procedure; (b) drainage should be as complete as possible; (c) antibiotics should be administered before ERCP to every patient with suspected obstructive jaundice and should cover P. aeruginosa if local epidemiological data suggest that there is a problem with disinfection of the endoscopes; and (d) the quality of drainage should guide the duration of antibiotic prophylaxis.

Aged↗

PubMed1991

Stenting in severe chronic pancreatitis: results of medium-term follow-up in seventy-six patients.

Between January 1985 and September 1989, 75 patients presenting with severe chronic pancreatitis with distal stricture and upstream dilatation underwent stenting of the main pancreatic duct (MPD) through the major papilla (n = 54) or minor papilla (n = 21) in order to drain the predominant duct through a 10 F plastic prosthesis. All patients had undergone biliary and pancreatic sphincterotomy with a few cases of complications, and the majority (84%) also ESWL in the period from October 1987 onwards without complications. Relief of pain (94%) occurred parallel to a decrease in the MPD diameter. In a mean follow-up period of 37 months improvement of the nutrition status and relief of pain was seen. Clogging of these large plastic stents was treated by replacement or by another endoscopic or surgical procedure. Complications were treated endoscopically. Further measures necessary due to failure of stenting consisted of laterolateral pancreatico-jejunostomy in 15% of patients and placement of self-expanding 18 F metal mesh stents in 29%. There was no mortality due to surgery. It is concluded that stenting of distal strictures in the MPD can lead to rapid resolution of pancreatic pain due to ductal hypertension and is the best means for determining the cause of pain, providing an alternative to surgery. Significant improvement of a stricture by prolonged stenting is however unusual, and such patients treated endoscopically require close follow-up with stent replacement approximately once a year.

Adult↗

PubMed1991

Dystrophin as a diagnostic marker in Duchenne and Becker muscular dystrophy. Correlation of immunofluorescence and western blot.

Dystrophin is the gene product of the Duchenne (DMD) and Becker (BMD) muscular dystrophy gene locus on the short arm of the X chromosome. Complete lack of dystrophin is pathognomonic for DMD and variable changes of the molecule may be observed in the milder allelic form of BMD. In the present study the two methods available for dystrophin assessment, immunofluorescence detections on cryosections (IF) and Western blotting (WB) were systematically compared using polyclonal and monoclonal antibodies to various regions along the dystrophin molecule. A total of 95 patients with DMD or BMD were investigated including two female patients. Dystrophin assessment revealed abnormal abundance and/or distribution in all 95 patients with DMD or BMD. Only trace amounts of dystrophin were detected in 29% of the DMD patients and complete lack of dystrophin was found in 71%. In two females with DMD but with normal karyotype single dystrophin-positive fibres were found among more than 90% negative fibres. Out of 26 patients with BMD 19 (73%) had a dystrophin molecule of abnormal molecular weight. The results of IF were largely compatible with those from WB but differences were also observed, e.g. one barely symptomatic BMD patient with dystrophin of increased molecular weight showed normal IF. Out of four carriers of BMD three showed evidence of reduced dystrophin immunostaining in some muscle fibres. In 20 other patients limb girdle muscualar dystrophy with "Duchenne-like" or "Becker-like" phenotype was suspected because dystrophin showed normal abundance and distribution. Focal discontinuity of muscle cell-surface dystrophin staining was observed in one patient with a congenital, autosomal recessive muscular dystrophy and in one out of five patients with polymyositis/dermatomyositis. The study emphasizes the need for, and value of, dystrophin assessment in every case of suspected BMD or DMD.

Adolescent↗

PubMed1990

Collagen-platelet interaction: type XI collagen-induced platelet aggregation.

Type XI collagen in its native fibrillar but not in soluble monomeric form mediates human platelet aggregation and release of adenosine triphosphate in a dose-dependent manner. Its action is inhibited by aspirin. Type XI collagen also increased radiolabelled phosphate incorporation into protein bands with molecular weights of 42 KDa and 22 KDa, respectively. In contract, these events were not observed in platelets incubated with type IX collagen. These results suggest that the fibrillar type XI collagen has the same ability as other types of collagen to induce human platelet aggregation.

Adenosine Triphosphate↗

PubMed1990

Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus.

A basic problem in genetic counseling of families with Duchenne/Becker muscular dystrophy (DMD/BMD) concerns the carrier status of female relatives of an affected male. In about 60% of these patients, deletions of one or more exons of the dystrophin gene can be identified. These deletions preferentially include exon 45, which can be detected by multiplex polymerase chain reaction (PCR) and Southern blot analysis of genomic cosmid clones that map to this critical region. As a new approach for definitive carrier detection, we have performed chromosomal in situ suppression (CISS) hybridization with these cosmid clones in female relatives of four unrelated patients. In normal females, most metaphases showed signals on both X chromosomes, whereas only one X chromosome was labeled in carriers. Our results demonstrate that CISS hybridization can define the carrier status in female relatives of DMD patients exhibiting a deletion in the dystrophin gene.

Blotting, Southern↗

PubMed1990

Factors influencing survival at one year in patients with nonbiliary hepatic parenchymal cirrhosis.

Transplantation may be considered for patients with advanced cirrhosis, however, adequate criteria for evaluating survival in those patients are ill-defined. The aim of the present study was to select, among several clinical and functional variables those that could best predict survival at one year. The data collected from 91 consecutive patients with parenchymal cirrhosis hospitalized in our center from February 1984 to January 1986 were subjected to stepwise logistic regression analysis. Death occurring during the first year following entry into the study was considered as a failure. During that period, there were no censored patients. Of 19 variables that entered into the analysis, only two were significant (P less than 0.01): presence (1: moderate; 2: severe) or absence (0) of ascites (A) and breath test (BT: % aminopyrine activity of administered dose at 2 hr). The logistic equation was: 1n (P/1 - P): - 1.95 A + 1.64 BT - 0.393, where P represented the probability of survival at one year. For each patient, P was calculated according to his A and BT values. Using a 0.7 probability cut-point to separate success from failure, 93% (70/75) of successes, 81% (13/16) of failures, and 91% (83/91) of both successes and failures could be correctly predicted. Predictive equations like the present preliminary one can be used in the future to better assess the risk of mortality in patients with parenchymal cirrhosis in whom liver transplantation is considered.

Breath Tests↗

PubMed1990

Septicemia after endoscopic retrograde cholangiopancreatography.

Clinical and bacteriological data from 55 patients who developed septicemia within 3 days after ERCP were collected. Forty-four patients presented with septicemia after therapeutic endoscopy, with incomplete drainage in forty, eight after diagnostic ERCP performed in obstructed bile ducts in another center and not followed by endoscopic therapy, and three with a normal common bile duct after diagnostic ERCP. The incidence of septicemia is significantly higher in cases of malignant obstruction than in benign obstruction (21% vs 3%; p less than 0.01), due mainly to the problems of drainage associated with tumoral infiltration. Forty-eight patients (87%) had incomplete bile duct drainage when they developed septicemia, and among the seven remaining cases, 3 had cholecystitis and 3 abscesses in the biliopancreatic area. Previous diagnostic ERCP without drainage was also clearly associated with septicemia after therapeutic ERCP. The most commonly isolated bacteria from blood and bile cultures were Pseudomonas aeruginosa and Escherichia coli. P. aeruginosa was observed mainly in patients referred from other centers after previous diagnostic ERCP, and was unusual in patients without previous ERCP. It is associated with problems in the disinfection of the scopes. Six deaths were attributed to sepsis, always in patients with incomplete biliary drainage which could not be improved. In most of the cases, septicemia after ERCP is related to incomplete bile duct drainage, and in some cases, to biliopancreatic infected collections. Careful disinfection of the endoscopes and other endoscopic devices is mandatory to avoid an unacceptably high rate of P. aeruginosa infection.

Adult↗

PubMed1990

New device for endoscopic cystoenterostomy.

A new device for endoscopic treatment of pancreatic pseudocysts is described. It aims to provide improved safety and ease of performance of endoscopic cystoenterostomy, even in difficult cases of massive compression of the intestinal wall with upper gastrointestinal obstruction. In this preliminary report, nine patients have been treated without complication.

Adult↗

PubMed1990

Non-surgical management of severe chronic pancreatitis.

The observation that drainage of the MPD in selected cases of severe chronic pancreatitis has a radical benefit on pain reduction supports the hypothesis that pain is mainly due to obstruction of the MPD. Further follow-up study is needed to assess whether endoscopic management can prevent progression of the disease and especially postpone the onset of diabetes and steatorrhea. The iterative character of the endoscopic management is at least an advantage when compared with surgery, which, in principle, might be considered definitive in only one operation. The present excellent results of non-surgical management of chronic pancreatitis suggest that these new procedures will find a prominent role similar to that already achieved for biliary tract procedures. Therapeutic endoscopy of the pancreas and chronic pancreatitis has focused on the 'stone and stricture' nature of the disease, and techniques have developed accordingly.

Bile Ducts↗

PubMed1990

Electromagnetic shock-wave lithotripsy of gallbladder calculi. Multicentered preliminary report on experience with 276 patients.

The Lithostar Working Group reports on the first 276 patients who underwent lithotripsy of biliary calculi by means of an electromagnetic Lithotriptor (Lithostar Plus from Siemens). Some 66% (183/276) and 27% (75/276) of the patients had solitary and two or three stones, respectively while 7% (18/276) had more than three gallbladder calculi. Calcified calculi were found in 11% of the patients. On an average the patients were treated in 1.6 (range 1.4-2.15) sessions; with the exception of one user the maximal energy (setting 9) was applied. The upper limit of shock waves per session was 1500-6000 (x = 2189 +/- 1058). 17% and 48% of the patients were free from calculi after 3 and 6 months, respectively. During the follow-up period 14% of the patients complained of severe biliary pain and 1.5% suffered from pancreatitis, which was controlled by conservative treatment. In three out of five patients with a transitory cholestatic jaundice endoscopic papillotomy was necessary. Four patients underwent an elective cholecystectomy. Considering the selection of the patients, the results obtained are comparable with those found in other studies.

Cholelithiasis↗

PubMed1990

Consumers' perceptions of hospital food and dietary services.

Consumers' perceptions of the quality of hospital food, food-related service, clinical service, and their importance were determined through telephone interviews with 223 adults randomly selected from an urban county in Ohio. Respondents (greater than 65%) indicated that hospital food was of good quality for characteristics of taste, aroma, appearance, tenderness, cold temperature, freshness, and nutrient value. A substantial majority (greater than 74%) said that foodservice was dependable and accurate and that foodservice employees were helpful, cheerful, and considerate. These food and service characteristics were thought (greater than 71%) to be important to hospital meals, and a very large number (greater than 87%) of respondents considered these characteristics to be important to their hospitalization. About half (50.2%) viewed them as important in selecting a hospital. More than 82% thought registered dietitians were informative, helpful, and available to educate patients. Almost all (greater than 95%) considered nutrition counseling important to health care in the community. Of 17 quality characteristics considered, 14 were positively correlated (p less than .05) with the level of satisfaction with hospitalization. The three characteristics that were not significantly correlated with satisfaction were cold food being at the right temperature, meals looking delicious, and employees being cheerful.

Adult↗

PubMed1990

[Lack of predictive factors for symptomatic recurrence of Crohn disease at the site of surgical anastomosis].

Recurrence of Crohn's disease at the ileocolonic anastomosis after curative surgery is frequent. Prognostic value of several parameters at the time of surgery was studied in 37 patients to detect early symptomatic recurrence of Crohn's disease after surgery. These included patient age at the time of surgery, sex, disease duration before surgery, clinical activity index, length of resected bowel, presence of granulomas in resected bowel segment, indication for surgery, type of medical treatment before surgery, and biochemical parameters at the time of surgery (ESR, C reactive protein and serum albumin level). Symptomatic recurrence associated with endoscopic lesions at the anastomotic site was observed in 10 of 37 patients (27 percent), within one year after surgery. None of the studied parameters were able to differentiate the patients with recurrence or not.

Adolescent↗