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排序方式: 共有2709条查询结果,搜索用时 15 毫秒
1.
Usher syndrome: clinical findings and gene localization studies 总被引:3,自引:0,他引:3
William J. Kimberling Sandra L. H. Davenport Ira Priluck Valorie White Karen Biscone-Halterman Patrick E. Brookhouser Claes G. Mller Gunnar Lund Timothy J. Grissom Michael D. Weston 《The Laryngoscope》1989,99(1):66-72
The issue of genetic heterogeneity is a critical problem in the localization of the gene(s) for Usher syndrome. Based on the data obtained on families studied to date, the differences between type I and type II Usher syndrome appear quite distinct with regard to auditory and vestibular function. Although the majority of families can be confidently diagnosed as typical type I or type II, clinical investigations revealed four families with findings that did not fit into either of the two more common subtypes. These findings emphasize the critical importance of an in-depth clinical analysis concomitant with the linkage investigation to assure accurate subtyping of Usher syndrome. Based on an analysis of only those families with definite type I or type II Usher syndrome, approximately 17% of the genome can be excluded as a potential site of the gene for type I, and 14% can be excluded as the site for the type II gene. This study will continue until the Usher gene(s) is successfully localized. 相似文献
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The monitoring of micronutrients and the relationship between dietary intake and micronutrient status prior to and after surgery in patients with histologically proven gastrointestinal adenocarcinoma, both weight-stable and weight-losing (> 7.5% of their pre-illness weight) has been studied and the results compared to controls. Plasma vitamin C and red blood cell thiamine levels were significantly lower in weight-losing cancer patients when compared to their weight-stable counterparts (P < 0.05 and P < 0.02 respectively). Weight-losing patients had a lower vitamin C (P < 0.05) and thiamine (P < 0.002) intake, and a higher elevation in plasma C-reactive protein and a lower prealbumin level (P < 0.02), when compared to both weight-stable cancer patients and controls. Plasma vitamin C, prealbumin and C-reactive protein levels remained unchanged after curative resections of the tumours compared to a preoperative value, and there was a highly significant correlation between plasma vitamin C and dietary intake of vitamin C. This study suggests that the lower vitamin C and thiamine status in weight-losing gastrointestinal cancer patients prior to surgery is due to a lower micronutrient intake and an acute phase response to their illness. Dietary intake of vitamin C appears to be the major factor in determining plasma vitamin C concentration following curative surgical resection. 相似文献
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OBJECTIVE--To audit the use of extended skills by South Glamorgan Ambulance crew in attempted resuscitations from out-of-hospital cardio-respiratory arrest, in terms of successful discharge of patients from hospital and the accuracy with which agreed protocols were applied. Design-Retrospective analysis of ambulance report forms, electrocardiograph rhythm strips, casualty cards and discharge summaries during 26 months (1st May 1987-30th June 1989). SETTING--A mixed urban and semi-rural area of 187 square miles with a population of 396,000. RESULTS--There were 274 attempted resuscitations. Seven patients (2.5%) were managed for primary respiratory arrest and 3 were discharged. In 98 patients (35.8%) the initial resuscitation protocol was for ventricular fibrillation: 26 were admitted and 17 were discharged. In 169 patients (61.7%) the initial resuscitation protocol was for asystole or electromechanical dissociation: 11 were admitted and 1 discharged. The majority of patients who were successfully discharged from hospital were those in ventricular fibrillation who responded to defibrillation alone (13 survivors). Drug administration may have played a role in the successful resuscitation of the remainder. Endotracheal intubation was successful in 94.7% and vein cannulation in 87.7% of attempts. There were deviations from the ventricular fibrillation protocol in 27 cases (27.5%) and from the asystole protocol in 27 cases (16.0%). CONCLUSION--Survival rates for ventricular fibrillation managed by these personnel were satisfactory with early defibrillation. Defibrillation alone was responsible for the majority of successful resuscitations. The additional benefit of drug administration appears small, though potentially important. The majority of patients were in asystole by the time the ambulance arrived. IMPLICATIONS--Extended trained crews use their skills effectively. The most important skill is defibrillation. Further studies are required to explain the high proportion of patients found in asystole. The performance of individual ambulance personnel should be assessed prospectively, because agreed resuscitation protocols are not always followed. 相似文献
6.
Digital radiography of subtle pulmonary abnormalities: an ROC study of the effect of pixel size on observer performance 总被引:3,自引:0,他引:3
Forty conventional radiographs with examples of mild interstitial infiltrates and subtle pneumothoraces and 40 normal studies of the chest were selected and digitized, with pixel sizes of 1.0, 0.5, 0.2, and 0.1 mm. Observer performance tests were carried out using receiver operating characteristic analysis. Conventional radiographs and digitized images were compared. The results indicate that, in such cases, diagnostic accuracy increases significantly as the pixel size is reduced, at least to the 0.1-mm level. We conclude that, for digital systems using screen-film or similar image receptors, use of a pixel size substantially larger than 0.1 mm may result in some loss of diagnostic accuracy. 相似文献
7.
A comparison of the haemodynamic profiles of Ro 31-6930, cromakalim and nifedipine in anaesthetised normotensive rats 总被引:1,自引:0,他引:1
The regional haemodynamic profiles of Ro 31-6930, cromakalim and nifedipine were compared using pulsed Doppler flowmetry in the anaesthetised rat. In order of potency, Ro 31-6930 (0.1-300 micrograms/kg), cromakalim (1-300 micrograms/kg) and nifedipine (1-1000 micrograms/kg) produced dose related falls in mean arterial pressure. The hypotensive effects of Ro 31-6930 and cromakalim were accompanied by reflex tachycardia. All three agents reduced renal vascular resistance by 30-50%. Cromakalim exerted a selective action on this vascular bed. Similar maximal reductions in mesenteric vascular resistance (37-50%) were observed; however, cromakalim was the least potent on this vascular bed. Maximal reductions in iliac vascular resistance (65-78%) were observed, with an order of potency as observed on mean arterial pressure. Qualitative differences in the regional haemodynamic profiles of Ro 31-6930, cromakalim and nifedipine are evident from this study. The different profiles of Ro 31-6930 and cromakalim may reflect structural differences between the pharmacophores of these compounds. 相似文献
8.
PL Macken FRACO FRACS CJ Pavlin FRCS R Tuli MD GE Trope PhD FRCS 《Clinical & experimental ophthalmology》1995,23(3):217-220
Background: Spherophakia is an uncommon diagnosis. This is the first case report of spherophakia evaluated by ultrasound biomicroscopy.
Methods: Ultrasound biomicroscopy is a new diagnostic technique developed by one of the authors and provides images with microscopic resolution of the anterior segment. A patient with spherophakia was evaluated by ultrasound biomicroscopy (Zeiss-Humphrey, 50MHz) before and after YAG laser iridotomy.
Results: Ultrasound biomicroscopic assessment revealed a shallow anterior chamber, a very steep anterior lens curvature, iridolenticular contact, elongated zonules, and an increased distance between the lens equator and the ciliary processes. Angle closure glaucoma was due to a pupil block mechanism. The pupil block was relieved by YAG laser iridotomy.
Conclusions: Ultrasound biomicroscopy is a useful technique to confirm the diagnosis of spherophakia. The pupil block in spherophakia is relieved by YAG laser iridotomy. 相似文献
Methods: Ultrasound biomicroscopy is a new diagnostic technique developed by one of the authors and provides images with microscopic resolution of the anterior segment. A patient with spherophakia was evaluated by ultrasound biomicroscopy (Zeiss-Humphrey, 50MHz) before and after YAG laser iridotomy.
Results: Ultrasound biomicroscopic assessment revealed a shallow anterior chamber, a very steep anterior lens curvature, iridolenticular contact, elongated zonules, and an increased distance between the lens equator and the ciliary processes. Angle closure glaucoma was due to a pupil block mechanism. The pupil block was relieved by YAG laser iridotomy.
Conclusions: Ultrasound biomicroscopy is a useful technique to confirm the diagnosis of spherophakia. The pupil block in spherophakia is relieved by YAG laser iridotomy. 相似文献
9.
Robyn Stremler Ellen Hodnett Patricia Petryshen Bonnie Stevens Julie Weston Andrew R Willan 《分娩》2005,32(4):243-251
ABSTRACT: Background: Hands‐and‐knees positioning during labor has been recommended on the theory that gravity and buoyancy may promote fetal head rotation to the anterior position and reduce persistent back pain. A Cochrane review found insufficient evidence to support the effectiveness of this intervention during labor. The purpose of this study was to evaluate the effect of maternal hands‐and‐knees positioning on fetal head rotation from occipitoposterior to occipitoanterior position, persistent back pain, and other perinatal outcomes. Methods: Thirteen labor units in university‐affiliated hospitals participated in this multicenter randomized, controlled trial. Study participants were 147 women laboring with a fetus at ≥37 weeks’ gestation and confirmed by ultrasound to be in occipitoposterior position. Seventy women were randomized to the intervention group (hands‐and‐knees positioning for at least 30 minutes over a 1‐hour period during labor) and 77 to the control group (no hands‐and‐knees positioning). The primary outcome was occipitoanterior position determined by ultrasound following the 1‐hour study period and the secondary outcome was persistent back pain. Other outcomes included operative delivery, fetal head position at delivery, perineal trauma, Apgar scores, length of labor, and women's views with respect to positioning. Results: Women randomized to the intervention group had significant reductions in persistent back pain. Eleven women (16%) allocated to use hands‐and‐knees positioning had fetal heads in occipitoanterior position following the 1‐hour study period compared with 5 (7%) in the control group (relative risk 2.4; 95% CI 0.88–6.62; number needed to treat 11). Trends toward benefit for the intervention group were seen for several other outcomes, including operative delivery, fetal head position at delivery, 1‐minute Apgar scores, and time to delivery. Conclusions: Maternal hands‐and‐knees positioning during labor with a fetus in occipitoposterior position reduces persistent back pain and is acceptable to laboring women. Given this evidence, hands‐and‐knees positioning should be offered to women laboring with a fetus in occipitoposterior position in the first stage of labor to reduce persistent back pain. Although this study demonstrates trends toward improved birth outcomes, further trials are needed to determine if hands‐and‐knees positioning promotes fetal head rotation to occipitoanterior and reduces operative delivery. (BIRTH 32:4 December 2005) 相似文献
10.
Benign intracranial hypertension is a condition of obscure aetiology which presents with episodic headaches and nausea. It is a diagnosis based on the exclusion of other intracranial pathology and computed tomography is usually normal. We present a case of gliomatosis cerebri which was initially diagnosed and treated as benign intracranial hypertension. 相似文献