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1.
A 16-year-old boy, the only affected member of the family, noticed early onset contracture of the elbows, and developed slowly progressive humeroperoneal weakness and atrophy, and bilateral equinus. The severe restriction of the forward flexion of the neck and thoracolumbar spine, resembled a rigid spine syndrome. An electrocardiogram showed atrioventricular conduction abnormalities. Muscle biopsy was consistent with mild myopathy. The overall conventional findings of a detailed electromyographic study in the limbs and erector trunci muscles, as well as the results of conduction velocity, automatic analysis of the voluntary pattern and single fiber electromyography studies were consistent with myopathy, although some atypical findings were found. The controversy about neurogenic and myopathic features in Emery-Dreifuss disease is discussed. The unspecific value of the flexion limitation of the spine, and the uncertain nosological position of the rigid spine syndrome are also commented. 相似文献
2.
Comparison of immune electron microscopy and genome electropherotyping techniques for detection of turkey rotaviruses and rotaviruslike viruses in intestinal contents. 总被引:3,自引:3,他引:0
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Seventy-nine intestinal contents specimens from 65 turkey flocks were examined for rotavirus and rotaviruslike virus (RVLV) by immune electron microscopy (IEM) and genome electropherotyping. The IEM procedure was slightly more sensitive in detecting these viruses; 7 of 48 specimens (14.6%) positive for virus by IEM were negative by the genome electropherotyping technique. The genome electropherotyping technique more readily differentiated the rotaviruses and RVLVs than did the IEM procedure; 15 of 48 specimens (31%) positive for virus by IEM could not be differentiated into rotavirus of RVLV, whereas only 4 of the 41 specimens (9.7%) positive by genome electropherotyping produced incomplete genome electropherotypes and could not be differentiated. Thirty-one specimens negative by IEM were also negative by genome electropherotyping. Specimens determined to contain only rotavirus by IEM produced only rotavirus genome electropherotypes. Likewise, specimens determined to contain RVLV alone by IEM produced only RVLV genome electropherotypes. Three specimens contained viruses morphologically resembling rotaviruses that were not aggregated by either the anti-turkey rotavirus serum or the anti-turkey RVLV serum and possessed genome electropherotypes distinct from those of the turkey rotavirus and RVLV. These rotaviruses may represent a third, previously unrecognized serogroup of turkey rotaviruses. 相似文献
3.
Age, fiber type composition and in vitro contracture responses in human malignant hyperthermia 总被引:1,自引:0,他引:1
Muscle fiber typing and in vitro contracture tests were performed in 59 patients investigated for susceptibility to malignant hyperthermia (MH). Eighteen patients were found to be susceptible to MH. There was no difference in age or fiber type distribution between MH susceptible and non-susceptible patients. No correlation was found between age and fiber type distribution. Separate analyses for each diagnostic group revealed no relationship between age or fiber type distribution and response to halothane or caffeine. When all caffeine results were pooled, however, there was a significant effect of age on the caffeine specific concentration (the concentration eliciting a contracture of 1 g), but not on the caffeine threshold concentration (the minimal concentration eliciting an increase in tension). It is concluded that age and fiber type distribution have no influence on MH diagnosis, if the protocol of the European MH Group for evaluation of susceptibility to MH is followed. 相似文献
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Serum levels of YKL-40 and PIIINP as prognostic markers in patients with alcoholic liver disease 总被引:5,自引:0,他引:5
Nøjgaard C Johansen JS Christensen E Skovgaard LT Price PA Becker U;EMALD Group 《Journal of hepatology》2003,39(2):179-186
BACKGROUND/AIMS: YKL-40 (growth factor) and PIIINP (N-terminal propeptide of Type III procollagen) are potential markers of liver fibrosis. The aim was to evaluate the prognostic value of serum YKL-40 and PIIINP levels in patients with alcoholic liver disease. METHODS: Three hundred and seventy patients with alcoholic liver disease were studied in a trial of malotilate with a median follow-up period of 470 days; 75 patients died; 336 patients had a liver biopsy on entry. Serum levels of YKL-40 and PIIINP were determined by radioimmunoassay (RIA). RESULTS: Serum YKL-40 and PIIINP were elevated in the patients compared to controls. Patients with steatosis or no fibrosis had the lowest serum levels of YKL-40 and PIIINP, whereas patients with alcoholic hepatitis and/or cirrhosis had the highest levels. Serum YKL-40 was associated with the presence of fibrosis, and serum PIIINP was also associated with the different grades of fibrosis. Patients with elevated serum YKL-40 or PIIINP had shorter survival than patients with normal serum levels of YKL-40 (P<0.0001) or PIIINP (P=0.044). High degree of fibrosis predicted shorter survival (P=0.004). CONCLUSIONS: Serum levels of YKL-40 and PIIINP are elevated in alcoholic patients, related to the presence of liver fibrosis and may provide prognostic information. 相似文献
7.
Christopher Springer Nasreldin Mohammed Stefano Alba Gerit Theil Vincenzo Maria Altieri Paolo Fornara Francesco Greco 《World journal of urology》2014,32(2):407-412
Objectives
To report the surgical outcomes of laparoscopic radical cystectomy (LRC) with extracorporeal orthotopic ileal neobladder (OIN) in patients with muscle-invasive urothelial carcinoma of the bladder (UCB).Materials and methods
Between October 2009 and December 2011, 37 patients with muscle-invasive UCB underwent a LRC with OIN. Indications included (a) muscle-invasive UCB T2–4a, N0–Nx, M0; (b) high-risk and recurrent non-muscle-invasive tumors; (c) T1G3 plus CIS; and (d) extensive non-muscle-invasive disease that could not be controlled by transurethral resection and intravesical therapy. Demographic data, perioperative, and postoperative variables were recorded and analyzed.Results
The median operating time was 330 min, with a median estimated blood loss of 410 ml. Median length of stay was 12 days, and the mean length of the skin incision to extract the specimen and for the configuration of the neobladder was 7 ± 1 cm. The complication rate was 21.6 % (Clavien II). No Clavien III–V complications were reported. Daytime and nocturnal continence were preserved in 95 and 78 %, respectively. No local recurrence or port site metastasis occurred. Median time to disease recurrence was 14 months (IQR 9–24), and 1-year cancer-specific survival was 91.9 %.Conclusions
Laparoscopic radical cystectomy with extracorporeal ileal neobladder is a challenging procedure but technically feasible, allowing low morbidity and oncological safety. Long-term oncological results are required to definitely recognize this procedure as a standard treatment for bladder cancer. 相似文献8.
9.
A. C. Theil R. B. H. Schutgens R. J. A. Wanders H. S. A. Heymans 《European journal of pediatrics》1992,151(2):117-120
Peroxisomal disorders are genetic diseases in which an impairment in one or more peroxisomal function(s) causes clinical and multiple biochemical abnormalities. Early recognition of the major peroxisomal disorders in which functional peroxisomes are virtually absent, leading to a generalised impairment of peroxisomal functions, is of utmost importance, as this will enable the prenatal diagnosis of these severe diseases in future pregnancies. Unfortunately, clinical recognition of these disorders can be difficult because of the aspecific and varying phenotypic presentation. We analysed the clinical characteristics in 40 patients suspected of having a peroxisomal disorder to identify specific clinical criteria for diagnosis. From this study we conclude that the combined presence of at least three major clinical characteristics (present in >75% of the affected patients, including psychomotor retardation, hypotonia, impaired hearing, low/broad nasal bridge, abnormal ERG, hepatomegaly) and one or more minor characteristics (present in 50%–75% of the patients, like large fontanelles, shallow orbital ridges, epicanthus, anteverted nostrils, retinitis pigmentosa) warrants biochemical investigation of peroxisomal functions. Further prospective investigations will have to be done to evaluate these criteria. 相似文献
10.
Schou S Holmstrup P Jørgensen T Skovgaard LT Stoltze K Hjørting-Hansen E Wenzel A 《Clinical oral implants research》2003,14(4):412-422
The aim of the present investigation was to assess the effect of four implant surface preparation methods used in the surgical treatment of experimental peri-implantitis with autogenous bone graft and expanded polytetrafluoroethylene (ePTFE) membrane. The methods were air-powder abrasive unit+citric acid, air-powder abrasive unit, gauze soaked in saline+citric acid, and gauze soaked alternately in chlorhexidine and saline. A total of 64 implants with a titanium plasma-sprayed (TPS) surface was placed in eight cynomolgus monkeys (Macaca fascicularis). After a 3-month period with plaque control, experimental peri-implantitis was induced. A bone loss of 4-6 mm was established after 9-17 months and plaque control was re-implemented. The peri-implantitis defects were surgically exposed, granulation tissue was removed, and each implant surface was prepared by one of the above-mentioned procedures. The defects were then filled with autogenous bone graft particles and covered by an ePTFE membrane. The animals were sacrificed after 6 months. Evaluation by clinical parameters, radiography including quantitative digital subtraction radiography, histology, and stereology did not reveal significant differences between the methods. Almost total bone regeneration and considerable re-osseointegration were obtained irrespective of the method applied. A mean bone-to-implant contact of 39-46% was observed within the defects. Therefore, the present study of implants with a TPS surface in cynomolgus monkeys indicates that the simplest method involving gauze soaked alternately in chlorhexidine and saline should be the preferred implant surface preparation method in the surgical treatment of peri-implantitis involving autogenous bone graft and ePTFE membrane. 相似文献