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41.
Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot-Marie-Tooth disease associated with light-near dissociation. 总被引:2,自引:0,他引:2
H M E Bienfait F Baas A A W M Gabre?ls-Festen J H T M Koelman C T Langerhorst M de Visser 《Neuromuscular disorders : NMD》2002,12(3):281-285
Charcot-Marie-Tooth disease caused by mutations of the myelin protein zero gene demonstrates considerable phenotypical variability. We describe a 45-year-old female with a peripheral neuropathy with demyelinating and axonal features, pes cavus and pupillary light-near dissociation. She was heterozygous for two mutations in the myelin protein zero gene (His81Tyr and Val113Phe), both present on the same allele. Our patient shows a less severe phenotype than previously described patients with a His81Arg mutation. Multiple mutations in the myelin protein zero gene, as well as Charcot-Marie-Tooth with pupillary abnormalities have previously been described in rare instances. However, concurrent occurrence of both phenomena is a novel finding. 相似文献
42.
J Lam R A Neirotti A Nijveld J L Schuller C M Blom-Muilwijk C A Visser 《Journal of the American Society of Echocardiography》1991,4(1):43-50
Transesophageal echocardiography was attempted in 59 pediatric patients with congenital heart disease in the operating room (n = 33) or during heart catheterization or in the intensive care unit (n = 26). Six different commercially available transducers were used with diameters ranging from 7 to 15 mm. Age ranged from 1 day to 16 years, and body weight ranged from 3.7 to 65 kg. Objectives of the study were to determine (1) minimum body weight in which transesophageal echocardiography with various probes is possible, (2) additional diagnostic value, and (3) potential applications. In three cases (one surgical and two nonsurgical) the probe could not be inserted. Minimum body weight was 17 to 20 kg for probes with a diameter of greater than or equal to 13 mm and approximately 12 kg for the 11 mm probes. A 7 mm probe, on the other hand, could be inserted easily in all patients (including a neonate) in whom transesophageal echocardiography was attempted. In 11 of 56 patients, additional diagnostic information was obtained. Thus, transesophageal echocardiography is feasible in the pediatric age group provided that special probes are used in small children. Additional diagnostic information can be obtained, and the technique is of value during cardiac surgery or balloon interventions for evaluation of the efficacy of the procedure and for monitoring ventricular function. 相似文献
43.
Prospect for enzyme therapy in glycogenosis II variants: a study on cultured muscle cells 总被引:4,自引:0,他引:4
A. T. van der Ploeg P. A. Bolhuis R. A. Wolterman J. W. Visser M. C. B. Loonen H. F. M. Busch A. J. J. Reuser 《Journal of neurology》1988,235(7):392-396
Summary Impairment of skeletal muscle function is the common feature of distinct clinical forms of glycogenosis type II. In the present study, muscle cultures from different patients were used to investigate the cause of clinical heterogeneity and the feasibility of enzyme replacement therapy. The activity of acid -glucosidase appears to be the primary factor in determining the extent of lysosomal glycogen storage in muscle, and thereby the clinical severity of the disease. Neutral -glucosidases do not seem influencial. Correction of the enzymatic defect was achieved in skeletal muscle cultures from patients by administration of a high-uptake form of acid -glucosidase, purified from human urine. The enzyme reaches the lysosomes, including the glycogen storage vacuoles, and the lysosomal glycogen content is reduced to control level. In normal muscle cells 20% of the total cellular glycogen pool is segregated in lysosomal compartments. This percentage is higher than in fibroblasts, which may partly explain why muscles are more prone to store glycogen. The relevance of this study for enzyme therapy is discussed. 相似文献
44.
T. C. Jansen H. N. Lafeber H. K. A. Visser G. Kwant B. Oeseburg W. G. Zijlstra 《Medical & biological engineering & computing》1978,16(3):274-277
A membrane-covered catheter-tip oxygen-electrode system is described, which gives a linear response in the Po2 range of 0–350 mm Hg. The system is highly stable, free from drift and mechanically safe for application in man. This is accomplished by using a screw cap for fastening the membrane holder, thus preventing the loss of parts and making the electrolyte chamber really fluidtight. Insulation of the platinum wire with glass precludes the possibility of fluid-bridge contact with the silver anode beyond the measuring site at the tip. 相似文献
45.
46.
van der Palen J Monninkhof E van der Valk P Visser A 《Patient education and counseling》2004,52(3):221-223
This special issue of Patient Education and Counseling is long overdue. During most of the last two decades asthma, and notably asthma self-management has been in the spotlight, while COPD has had to endure a nihilistic approach. The first sign that interest was shifting to the treatment of COPD came from a few large randomized trials on the use of inhaled corticosteroids (ICS) in COPD. Although these studies demonstrated a moderate effect of ICS in COPD, it has become clear that true improvements in the management of this chronic disease will have to come from behavioral interventions. This special issue of Patient Education and Counseling is dedicated solely to the non-pharmaceutical management of COPD. It addresses many issues related to behavioral therapy, such as smoking cessation, exercise training, nutritional aspects, and self-management programs, including action plans to self-treat exacerbations. With the availability of all the treatment and management options, described in this special issue, a nihilistic attitude toward the patient with COPD is no longer justified. 相似文献
47.
HLA-DQ-associated predisposition to and dominant HLA-DR-associated protection against rheumatoid arthritis 总被引:5,自引:0,他引:5
van der Horst-Bruinsma IE Visser H Hazes JM Breedveld FC Verduyn W Schreuder GM de Vries RR Zanelli E 《Human immunology》1999,60(2):152-158
We have recently proposed a new hypothesis to explain the association of Human Leukocyte Antigen (HLA) with rheumatoid arthritis (RA) predisposition. In this model, which challenges the Shared Epitope (SE) hypothesis, HLA-DQ predisposes while HLA-DR protects. In the present study, we have compared these two models in an Early Arthritis Clinic started in 1993 in the Department of Rheumatology at the Leiden University Medical Centre. Out of 524 patients who enrolled this programme in the period 1993-1998 and completed the one year follow-up, 155 have been classified as RA. These patients along with 306 consecutive cadaveric renal organ donors have been typed for HLA-DR and -DQ. The distributions of predisposing DR alleles according to SE, and predisposing DQ and protective DR according to our model were analysed. We found that two doses of predisposing DQ alleles strongly predisposed to RA, even in individuals with a single dose of SE while DRB1 alleles carrying the motif DERAA confered a dominant protection in DQ5-positive individuals. We conclude that the present findings are consistent with our previously described model of HLA and RA association. Using this new model, we have been able to characterise two novel groups of individuals on the basis of their HLA typing: one strongly predisposed to RA and one protected. Knowing the mechanism of HLA-related dominant natural protection may help in designing novel treatment modalities for RA. 相似文献
48.
49.
Relative carriage rates of nuclear dehydrogenating clostridia in two populations of different colorectal cancer risk
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Carriage of nuclear dehydrogenating clostridia has been associated with colon cancer and implicated in its aetiology. This study has compared the carriage of these organisms in a British population at high risk for the development of colon cancer with a low risk Nigerian population. Clostridia were found in all of the stools from both populations. Nuclear dehydrogenating clostridia were only found in the stools of the British subjects (32%). These results support the suggestion that the carriage rate of nuclear dehydrogenating clostridia in a population is related to the risk of colon cancer. 相似文献
50.
J. R. Brunsting K. R. Visser W. G. Zijlstra 《Pflügers Archiv : European journal of physiology》1975,356(3):193-208
A technique is described for perfusion of the entire coronary arterial system of the dog heart in situ and for drainage of the coronary sinus blood. Both coronary arteries are cannulated without ligation of major ventricular branches and disconnected from the aorta. The cannulas are connected to an extracorporeal system allowing perfusion under controlled pressure, without ill effects to either the heart or the blood. The arterial perfusion system is fed from the femoral arteries of the dog. The coronary sinus is cannulated for draining the blood to a venous reservoir against a controlled pressure. From the reservoir the blood is pumped into a femoral vein. Thus a preparation is obtained in which the interdependency of coronary circulation and performance of the heart has been discontinued. Under careful monitoring of pressures and flows, and of blood temperature, blood gases and plasma electrolytes, the preparation has been kept in excellent condition for up to 7 hrs. 相似文献