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91.
This is to review the current state of knowledge on the functional and clinical aspects of bestrophin 1, a prominent member of a family of proteins involved in the control and properties of the light peak of the EOG. Initially human bestrophin 1 gene (BEST1) mutations were identified to underlie Best vitelliform macular dystrophy (VMD), a dominantly inherited, juvenile-onset form of macular degeneration. In the recent past the phenotypical spectrum of retinal disorders associated with BEST1 mutations has been extended and the term bestrophinopathies was coined. The physiological role of bestrophin 1 is still not completely understood but has been linked to the generation of a transepithelial chloride current by controlling voltage-dependent calcium channels (VDCC). Dysfunction of bestrophin 1 may result in abnormal ion and fluid transport by the retinal pigment epithelium (RPE) disturbing and even disrupting direct interactions between the RPE and the photoreceptors. 相似文献
92.
93.
Peter T. George D.D.S. 《Sleep & breathing》2001,5(4):181-191
Excessive daytime sleepiness (EDS) is an important indicator when diagnosing sleep-disordered breathing and evaluating its treatment results. However, there appears to be some confusion as to what exactly is sleepiness; Dorlands Illustrated Medical Dictionary does not help. The medical literature was reviewed in order to assemble a schematic model that would suggest a definition of sleepiness and how it can be measured. The derived model is entitled the troika of consciousness cycle (TCC). It assumes that the presence of wakefulness, nonrapid eye movement sleep (NREMS), and rapid eye movement sleep (REMS) is determined by the interactions of four drives: two promoting wakefulness and one each for the two sleep states. The TCC illustrates that inadequate sleep results in sleep debt, but that sleepiness is determined solely by the nearness of the secondary wake drive line to the NREMS drive line. Contact of these lines indicates dozing, a change in consciousness state, an observable event. The probability of this event may be defined as objective sleepiness; this is what the Epworth sleepiness scale (ESS) attempts to measure. Studies indicate that the ESS can determine EDS with greater sensitivity and selectivity than either the multiple sleep latency test or the maintenance of wakefulness test. 相似文献
94.
目的:分析车祸致重症感染患者万古霉素谷浓度不达标的原因,探究临床药师的药学监护过程。方法:临床药师参与万古霉素给药方案的制订,对重症感染患者开展治疗药物监测(TDM)和药学服务。结果:万古霉素的血药浓度受患者体质量、年龄、肾功能、体液量及表观分布容积等多种因素的影响。结论:万古霉素的个体差异较大,影响因素较多,临床医生和药师应对万古霉素TDM,关注其谷浓度的变化。 相似文献
95.
Wei Perng Jonggyu Baek Christina W. Zhou Alejandra Cantoral Maria Martha Tellez-Rojo Peter X. K. Song 《Annals of human biology》2013,40(5):386-394
Background: Early-life growth dynamics are associated with future health. Little is known regarding timing and magnitude of the infancy body mass index (BMI) peak with adiposity and metabolic biomarkers during adolescence.Aim: To examine associations of the infancy BMI peak with anthropometry and cardiometabolic risk during peripuberty.Methods: Among 163 ELEMENT participants, this study estimated age and magnitude of the infancy BMI peak from eight anthropometric measurements from birth–36?months using Newton’s Growth Models, an acceleration-based process model. Associations were examined of the infancy milestones with anthropometry and cardiometabolic risk at 8–14?years using linear regression models that accounted for maternal calcium supplementation and age; child’s birthweight, sex, and age; and the other infancy milestone.Results: Median age at the infancy BMI peak was 9.6?months, and median peak BMI was 16.5?kg/m2. Later age and larger magnitude of the peak predicted higher BMI z-score, waist circumference, and skinfold thicknesses; i.e. each 1?month of age at peak and each 1?kg/m2 of peak BMI corresponded with 0.04 (0.01–0.07) and 0.33 (0.17–0.48) units of higher BMI z-score, respectively. Later age at peak was also a determinant of worse glycaemia and higher blood pressure.Conclusion: Later age and larger magnitude of the infancy BMI peak are associated with higher adiposity at 8–14?years of age. Later age but not magnitude of the BMI peak are related to a worse cardiometabolic profile during peripuberty. 相似文献
96.
João P. Duarte João Valente-dos-Santos Daniela Costa Dieter Deprez Renaat Philippaerts 《Annals of human biology》2013,40(5):453-456
The purpose of the study was to model the longitudinal development of knee extension (KE) and flexion (KF) strength in adolescent soccer players. A mixed-longitudinal sample composed of 67 soccer players aged 11.0–13.9?years at baseline was followed on three-to-five occasions over 5 years. Stature, body mass and several skinfold thicknesses were measured. Fat mass was estimated from skinfolds and fat-free mass (FFM) derived. Skeletal age was estimated with the TW2-RUS protocol. An isokinetic dynamometer was used to obtain peak torque of KE and KF from concentric assessments at an angular velocity of 180°/s. Multilevel random effects regression analyses were performed. Among youth soccer players aged 11–16?years, isokinetic strength of the knee muscle groups was reasonably predicted from chronological age (CA), stature and FFM: KE?=?–66.170?+?5.353?×?(CA)?+?0.594?×?(CA2)?+?0.552?×?(stature)?+?1.414?×?(FFM), and KF?=?–9.356?+?2.708?×?(CA)?+?1.552?×?(FFM). In conclusion, CA per se accounted for annual increments of 5.4?Nm in KE and 2.7?Nm in KF. 相似文献
97.
DAVID C. BLOOM 《International reviews of immunology》2013,32(1-2):187-198
98.
FABIO PIZZA KEIVAN K. MOGHADAM STEFANO VANDI STEFANIA DETTO FRANCESCA POLI EMMANUEL MIGNOT RAFFAELE FERRI GIUSEPPE PLAZZI 《Journal of sleep research》2013,22(1):32-40
In the diagnostic work‐up of hypersomnias of central origin, the complaint of excessive daytime sleepiness should be objectively confirmed by MSLT findings. Indeed, the features and diagnostic utility of spontaneous daytime sleep at 24 h continuous polysomnography (PSG) have never been investigated. We compared daytime PSG features to MSLT data in 98 consecutive patients presenting with excessive daytime sleepiness and with a final diagnosis of narcolepsy with cataplexy/hypocretin deficiency (n = 39), narcolepsy without cataplexy (n = 7), idiopathic hypersomnia without long sleep time (n = 19), and ‘hypersomnia’ with normal sleep latency at MSLT (n = 33). Daytime sleep time was significantly higher in narcolepsy‐cataplexy but similar in the other groups. Receiver operating characteristics (ROC) curves showed that the number of naps during daytime PSG predicted a mean sleep latency ≤8 min at MSLT with an area under the curve of 0.67 ± 0.05 (P = 0.005). The number of daytime sleep‐onset REM periods (SOREMPs) in spontaneous naps strikingly predicted the scheduled occurrence of two or more SOREMPs at MSLT, with an area under the ROC curve of 0.93 ± 0.03 (P < 10?12). One spontaneous SOREMP during daytime had a sensitivity of 96% with specificity of 74%, whereas two SOREMPs had a sensitivity of 75%, with a specificity of 95% for a pathological REM sleep propensity at MSLT. The features of spontaneous daytime sleep well correlated with MSLT findings. Notably, the occurrence of multiple spontaneous SOREMPs during daytime clearly identified patients with narcolepsy, as well as during the MSLT. 相似文献
100.
目的:探讨帕金森病(PD)睡眠障碍患者的血浆orexin A浓度变化,分析其可能影响因素.方法:采用UPDRS-Ⅲ评分、用药调查表、多项睡眠图(PSG)监测及次日多次睡眠潜伏期试验分别对25例PD患者的疾病严重程度、多巴胺能药物应用、睡眠结构、平均睡眠潜伏期等情况进行评定和计算;使用放射免疫分析法对25例临床确诊的PD患者和20例无明显中枢神经系统(CNS)疾病的对照组进行血浆orexin A浓度测定;分析PD患者血浆orexin A浓度与其睡眠结构、平均睡眠潜伏期、服用多巴胺能药物剂量间的相关性.结果:PD组中25例患者的血浆orexin A浓度[(7.72±3.44) pg/ml]和20例对照组的血浆orexin A浓度[(6.04±3.22) pg/ml]比较差异无统计学意义(t=1.669,P>0.05);PD伴眼快动睡眠期精神行为障碍(RBD)组12例的血浆orexin A浓度[(6.93±2.67)pg/ml]和PD不伴RBD组的13例血浆orexin A浓度[(8.45±3.99)pg/ml]比较差异无统计学意义(t=-1.108,P>0.05);PD伴SAHS组12例的血浆orexin A浓度[(7.40±3.56)pg/ml]和PD不伴SAHS组13例的血浆orexin A浓度[(8.01±3.44)pg/ml]比较差异无统计学意义(t=-0.433,P>0.05);多元逐步线性回归分析显示PD患者的血浆orexin A浓度与平均睡眠潜伏期(β=-0.382,95% CI:-0.708~-0.056)、左旋多巴日等效剂量(β=-0.011,95% CI:-0.018~-0.004)呈负相关(t=-2.433、-3.132,P<0.05).结论:PD患者血浆orexin A浓度变化受多巴胺能药物剂量及日间平均睡眠潜伏期的影响. 相似文献