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71.
Jana Jedlickova Marie Vajter Tomas Barta Graeme C. M. Black Rahat Perveen Jan Mares Marek Fichtl Bohdan Kousal Lubica Dudakova Petra Liskova 《Clinical genetics》2023,104(4):418-426
Four members of a three-generation Czech family with early-onset chorioretinal dystrophy were shown to be heterozygous carriers of the n.37C>T in MIR204. The identification of this previously reported pathogenic variant confirms the existence of a distinct clinical entity caused by a sequence change in MIR204. Chorioretinal dystrophy was variably associated with iris coloboma, congenital glaucoma, and premature cataracts extending the phenotypic range of the condition. In silico analysis of the n.37C>T variant revealed 713 novel targets. Additionally, four family members were shown to be affected by albinism resulting from biallelic pathogenic OCA2 variants. Haplotype analysis excluded relatedness with the original family reported to harbour the n.37C>T variant in MIR204. Identification of a second independent family confirms the existence of a distinct MIR204-associated clinical entity and suggests that the phenotype may also involve congenital glaucoma. 相似文献
72.
Gian Marco Moneta Claudia Bracaglia Ivan Caiello Chiara Farroni Denise Pires Marafon Raffella Carlomagno Linda Hiraki Marina Vivarelli Alessandra Gianviti Simone Carbogno Walter Ferlin Cristina de Min Earl Silverman Rita Carsetti Fabrizio De Benedetti Emiliano Marasco 《European journal of immunology》2023,53(7):2250319
73.
Nuclear medicine and thyroid cancer 总被引:1,自引:0,他引:1
74.
Kevin C. Dennehy Jean-Yves Dupuis Howard J. Nathan J. Earl Wynands 《Journal canadien d'anesthésie》1999,46(1):56-60
PURPOSE: To illustrate the multiple causes of hypoxemia to be considered following cardiopulmonary bypass and how therapy given to improve oxygen delivery may have contributed to a decrease in arterial oxygen saturation to life-threatening levels. CLINICAL FEATURES: A 61 yr old man with severe mitral regurgitation and chronic obstructive lung disease underwent surgery for mitral valve repair. A pulmonary artery catheter with the capacity to measure cardiac output and mixed venous oxygen saturation (SvO2) continuously was used. Two unsuccessful attempts were made to repair the valve which was finally replaced, requiring cardiopulmonary bypass of 317 min. Dobutamine 5 micrograms.kg-1.min-1 and sodium nitroprusside 1 microgram.kg-1.min-1 were used to increase cardiac output. Soon after, the SvO2 decreased progressively from 55 to 39%. The patient became cyanotic with a PaO2 of 39 mmHg. Sodium nitroprusside was stopped and amrinone 100 mg bolus followed by 10 micrograms.kg-1.min-1 was given in addition to adding PEEP to the ventilation. With these measures PaO2 could be maintained of safe levels but PEEP and high inspired oxygen concentrations were needed postoperatively until the trachea could be extubated on the third postoperative day. CONCLUSION: The profound hypoxemia in this case was likely due to a combination of intra- and extrapulmonary shunt, both augmented by sodium nitroprusside. The desaturation of mixed venous blood amplified the effect of these shunts in decreasing arterial oxygen saturation. The interaction of these factors are analyzed in this report. 相似文献
75.
Joel M. Childers MD Amir Nasseri MD Earl A. Surwit MD 《American journal of obstetrics and gynecology》1996,175(6):1451-1459
OBJECTIVE: Our aim was to evaluate the feasibility and applicability of operative laparoscopy in the management of adnexal masses that do not meet the standard serum CA 125 and ultrasonographic criteria for benignity. STUDY DESIGN: One hundred thirty-eight patients underwent operative laparoscopy for removal of suspicious adnexal masses. The CA 125 level was >35 mIU/ml in 39 of 138 (28%) patients; ultrasonographic findings were abnormal in 127 of 138 (92%); masses were >10 cm in 43 of 138 (32%) of patients. RESULTS: Malignancies were discovered in 14% (19/138) of patients. Eight percent (11/138) of the procedures were converted to laparotomy, six because of inability to dissect the mass laparoscopically and five for staging or debulking of carcinoma. Operative times ranged from 25 to 210 minutes, with a mean of 86. Three major complications were encountered-an enterotomy and a lacerated vena cava, both of which were repaired laparoscopically, and a small bowel herniation through a lateral port site that required reoperation. Hospital stays ranged from 0 to 11 days, with a mean of 1.5. In two patients with "apparent" stage I adnexal carcinomas recurrence was diagnosed 6 and 38 months after surgery. CONCLUSIONS: Laparoscopic management of suspicious adnexal masses is technically feasible, with a low rate of morbidity and a short hospital stay. Adnexal carcinomas can be identified and managed appropriately with staging and complete resection as indicated. (Am J Obstet Gynecol 1996;175:1451-9.) 相似文献
76.
A menopause-specific quality of life questionnaire: development and psychometric properties 总被引:7,自引:0,他引:7
John R. Hilditch Jacqueline Lewis Alice Peter Barbara van Maris Alan Ross Edmée Franssen Gordon H. Guyatt Peter G. Norton Earl Dunn 《Maturitas》1996,24(6):161-175
Objective:
to develop a condition-specific quality of life questionnaire for the menopause with documented psychometric properties, based on women's experience. Methods: Subjects: Women 2–7 years post-menopause with a uterus and not currently on hormone replacement therapy. Questionnaire development: A list of 106 menopause symptoms was reduced using the importance score method. Replies to the item-reduction questionnaire from 88 women resulted in a 30-item questionnaire with four domains, vasomotor, physical, psychosocial and sexual, and a global quality of life question. Psychometric properties: A separate sample of 20 women was used to determine face validity, and a panel of experts was used to confirm content validity. Reliability, responsiveness and construct validity were determined within the context of a randomized controlled trial.Construct validation involved comparison with the Neugarten and Kraines' Somatic, Psychosomatic and Psychologic subscales, the reported intensity of hot flushes, the General Well-Being Schedule, Channon and Ballinger's Vaginal Symptoms Score and Libido Index, and the Life Satisfaction Index.Results:
The face validity score was 4.7 out of a possible 5. Content validity was confirmed. Test-retest reliability measures, using intraclass correlation coefficients were 0.81, 0.79, 0.70 and 0.55 for the physical, psychosocial, sexual domains and the quality of life question. The intraclass correlation coefficient for the vasomotor domain was 0.37 but there is evidence of systematic change. Discriminative construct validity showed correlation coefficients of 0.69 for the physical domain, 0.66 and 0.40 for the vasomotor domain, 0.65 and −0.71 for the psychosocial domain, 0.48 and 0.38 for the sexual domain, and 0.57 for the quality of life question. Evaluative construct validity showed correlation coefficients of 0.60 for the physical domain, 0.28 for the vasomotor domain, 0.55 and −0.54 for the psychosocial domain, 0.54 and 0.32 for the sexual domain, and 0.12 for the quality of life question. Responsiveness scores ranged from 0.78 to 1.34.Conclusions:
The MENQOL (Menopause-Specific Quality of Life) questionnaire is a self-administered instrument which functions well in differentiating between women according to their quality of life and in measuring changes in their quality of life. 相似文献77.
Paul McDonagh Jean-Yves Dupuis Michael Curran John Kitts J. Earl Wynands 《Journal canadien d'anesthésie》1996,43(2):134-140
Purpose
To determine the characteristics of neuromuscular block produced by two and three times the 95% effective dose (ED95) of doxacurium in patients undergoing coronary artery surgery with hypothermic cardiopulmonary bypass.Methods
In a prospective non randomized study, ten patients received doxacurium 0.05 mg·kg?1 (Group 1) and ten others received 0.075 mg · kg?1 (Group 2) with midazolam and sufentanil. The mechanomyographic response of the adductor pollicis muscle after supramaximal train-of-four (TOF) stimulation of the ulnar nerve was recorded intraoperatively and postoperatively. Additional doxacurium (10% of the initial dose) was administered until sternal closure whenever the first twitch (T1) had recovered to 25% of control.Results
The onset time (time to maximal T1 depression) of doxacurium was 390 ± 148 sec in Group 1 and 370 ± 74 sec in Group 2 (P = 0.71). The clinical duration of neuromuscular block (time to 25% T1 recovery) was 165 ± 90 min in Group 1 and 258 ± 86 min in Group 2 (P = 0.03). On arrival to recovery room the mean T1 was 57 ± 23% in Group 1 and 24 ± 21% in Group 2(P = 0.003); the mean T4/T1 ratio was 0.25 ± 0.15 for five patients of Group 1 with four responses to TOF stimulation and 0.10 for the only patient of Group 2 with four twitches.Conclusion
In contrast with findings in patients without cardiac disease, this study shows comparable onset times of doxacurium with doses of two and three times ED95. The clinical duration of doxacurium is 60 to 100% longer than previously reported in noncardiac surgery. 相似文献78.
Contrast sensitivity and increment-threshold functions were studied for three rhesus monkeys with stimulus deprivation amblyopia. The monkeys' right eyelids were sutured closed before the age of 1 month for periods of two weeks, 19 months and 23 months. Contrast sensitivity measurements for all three monkeys showed greatly reduced visual function in the deprived eye with a high spatial frequency cut-off 6 octaves lower in the deprived than the nondeprived eyes. The increment-threshold data collected for the two long-term lid-sutured monkeys showed both photopic and scotopic abnormalities in the deprived eyes. For example, with complete dark adaptation although the spectral sensitivity data for both the deprived and nondeprived eyes were well fit by the scotopic luminosity function, the sensitivity for the deprived eye was approximately 4 log units lower than the nondeprived eye. In addition, the spectral sensitivity data for the deprived eyes showed scotopic luminosity functions for achromatic adapting field luminances of 188, 750 and 3000 td whereas the nondeprived eye showed normal photopic function for all light adapted conditions. Even when the spectral sensitivity measurements were made in the presence of intense blue backgrounds, the data obtained for the deprived eyes were best described as showing scotopic function over the short wavelengths and photopic function only at the longer wavelengths. The increment-threshold functions for achromatic stimuli showed normal rod-cone interactions in the nondeprived eyes, but the functions were monotonic for the deprived eyes over a 9 log unit range of background luminances. Therefore, the results of these experiments show that stimulus deprivation causes profound defects for visual resolution, rod saturation and the rate of change of sensitivity with light adaptation. 相似文献
79.
Effects of dibutyl phthalate in male rabbits following in utero, adolescent, or postpubertal exposure. 总被引:11,自引:0,他引:11
Ty T Higuchi Jennifer S Palmer L Earl Gray D N Rao Veeramachaneni 《Toxicological sciences》2003,72(2):301-313
We evaluated sequelae in male rabbits following exposure to dibutyl phthalate (DBP) at a dose level known to adversely affect testicular function in rodents without causing systemic toxicity. Because rabbits have a relatively long phase of reproductive development simulating better than rodents the reproductive development of humans, and because the use of rabbits facilitates multiple evaluations of mating ability and seminal quality, we used this animal model. Rabbits were exposed to 0 or 400 mg DBP/kg/day in utero (gestation days [GD] 15-29) or during adolescence (postnatal weeks [PNW] 4-12), and male offspring were examined at 6, 12, and 25 weeks of age. Another group was exposed after puberty (for 12 weeks) and examined at the conclusion of exposure. The most pronounced reproductive effects were in male rabbits exposed in utero. Male offspring in this group exhibited reduction in numbers of ejaculated sperm (down 43%; p < 0.01), in weights of testes (at 12 weeks, down 23%; p < 0.05) and in accessory sex glands (at 12 and 25 weeks, down 36%; p < 0.01 and down 27%; p < 0.05, respectively). Serum testosterone levels were down (at 6 weeks, 32%; p < 0.05); a slight increase in histological alterations of the testis (p < 0.05) and a doubling in the percentage (from 16 to 30%, p < 0.01) of abnormal sperm; and 1/17 males manifesting hypospadias, hypoplastic prostate, and cryptorchid testes with carcinoma in situ-like cells. In the DBP group exposed during adolescence, basal serum testosterone levels were reduced at 6 weeks (p < 0.01) while at 12 weeks, testosterone production in vivo failed to respond normally to a GnRH challenge (p < 0.01). In addition, weight of accessory sex glands was reduced at 12 weeks but not at 25 weeks after a recovery period; there was a slight increase in the percentage of abnormal sperm in the ejaculate; and 1/11 males was unilaterally cryptorchid. In both of these DBP-treated groups, daily sperm production, epididymal sperm counts, mating ability, and weights of body and nonreproductive organs were unaffected. Thus, DBP induces lesions in the reproductive system of the rabbit, with the intrauterine period being the most sensitive stage of life. 相似文献
80.
Haggarty P Shetty P Thangam S Kumar S Kurpad A Ashton J Milne E Earl C 《The British journal of nutrition》2000,83(3):227-234
The purpose of the present study was to estimate whole-body fatty acid and cholesterol synthesis in weight-stable adults and to determine the likely effect on the doubly-labelled water (DLW) method for measuring energy expenditure. Synthesis was measured by 2H incorporation over 14 d in six adult males in approximate energy balance following noradrenaline infusion to maximize mobilization of free fatty acid from adipose tissue. The inter-individual variation in synthesis rates was large and in one subject the proportion of free fatty acid synthesized was ten times that of the mean of the rest of the group; the fasting concentration of esterified fatty acid in this subject was five times that of the rest of the group indicating likely violation of the assumptions underlying the calculation of whole-body synthesis. After 14 d of labelling in the other five subjects, 0.9 (SEM 0.3)% of the circulating free fatty acid, 9.3 (SEM 3.0)% of the esterified fatty acid, 14.6 (SEM 2.4)% of the free cholesterol and 28.3 (SEM 3.7)% of esterified cholesterol had been synthesized de novo. A high rate of synthesis correlated with a low pre-dose 2H abundance both within and between lipid classes suggesting that natural 2H abundance variations in some lipid classes may be used to determine their metabolic origin. Whole-body synthetic rates were 8 g/d for fatty acid and 0.3-0.5 g/d for cholesterol. These values correspond to very small errors on DLW-derived estimates of CO2 production; -2.5 litres/d for fatty acid and -0.1 to -0.2 litres/d for cholesterol. These results, obtained in subjects typically consuming a diet with a lower fat and cholesterol content that the typical Western diet, suggest that the DLW method is unlikely to be affected by fatty acid and cholesterol synthesis in subjects in energy balance consuming a typical Western diet. 相似文献