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Sleep disturbance in adults with sickle cell disease: relationships with executive and psychological functioning.

镰状细胞病成人患者的睡眠障碍: 与执行和心理功能的关系。

  • 影响因子:1.94
  • DOI:10.1007/s00277-020-04058-7
  • 作者列表:"Rhodes A","Martin S","Wolters P","Rodriguez Y","Toledo-Tamula MA","Struemph K","Fitzhugh C","Hsieh M","Tisdale J
  • 发表时间:2020-09-01
Abstract

:Sleep disturbance is common among children with sickle cell disease (SCD) and is related to neurocognitive difficulties. However, research on sleep disturbances and related variables among adults with SCD is extremely limited. The present study examined the relationship between sleep, executive functioning, and emotional functioning among 62 adults (29 females; M age = 32 years, SD = 7.79) with SCD preparing to undergo a stem cell transplant. Participants were administered a neurocognitive evaluation that included objective and subjective measures of executive functioning, and they completed PROMIS self-report measures of anxiety, depression, and pain intensity. Results showed that about 17% of participants endorsed clinically significant sleep disruptions, while 16.1% and 8% endorsed clinically significant symptoms of anxiety and depression, respectively. Sleep disturbance in these adults was not significantly correlated with objective or subjective measures of executive functioning. Moreover, anxiety, but not depression, was a significant mediator between self-reported sleep difficulties and both objective and subjective measures of executive functioning while controlling for pain intensity. Future research on sleep interventions will be essential for ameliorating the effects of sleep disturbance on executive functioning and anxiety among adults with SCD.

摘要

: 睡眠障碍在患有镰状细胞病 (SCD) 的儿童中很常见,并且与神经认知困难有关。然而,对SCD成人患者睡眠障碍和相关变量的研究极其有限。本研究调查了62名准备接受干细胞移植的SCD成人 (29名女性; 年龄 = 32岁,SD = 7.79) 的睡眠、执行功能和情绪功能之间的关系。对参与者进行了神经认知评估,包括执行功能的客观和主观测量,并完成了焦虑,抑郁和疼痛强度的PROMIS自我报告测量。结果表明,约17% 的参与者支持临床显着的睡眠中断,而16.1% 和8% 分别支持焦虑和抑郁的临床显着症状。这些成年人的睡眠障碍与执行功能的客观或主观测量没有显著相关性。此外,焦虑而不是抑郁是自我报告的睡眠困难与执行功能的客观和主观测量之间的重要中介,同时控制疼痛强度。未来对睡眠干预的研究对于改善睡眠障碍对SCD成人执行功能和焦虑的影响至关重要。

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发表时间:2020-02-01
DOI:10.1016/j.ajog.2019.07.044
作者列表:["Yang J","Peng CF","Qi Y","Rao XQ","Guo F","Hou Y","He W","Wu J","Chen YY","Zhao X","Wang YN","Peng H","Wang D","Du L","Luo MY","Huang QF","Liu HL","Yin A"]

METHODS:BACKGROUND:Thalassemia is one of the most common monogenetic diseases in the south of China and Southeast Asia. Hemoglobin Bart's hydrops fetalis syndrome was caused by a homozygous Southeast Asian deletion (-/-) in the HBA gene. Few studies have proved the potential of screen for Bart's hydrops fetalis using fetal cell-free DNA. However, the number of cases is still relatively small. Clinical trials of large samples would be needed. OBJECTIVE:In this study, we aimed to develop a noninvasive method of target-captured sequencing and genotyping by the Bayesian method using cell-free fetal DNA to identify the fetal genotype in pregnant women who are at risk of having hemoglobin Bart hydrops fetalis in a large-scale study. STUDY DESIGN:In total, 192,173 couples from 30 hospitals were enrolled in our study and 878 couples were recruited, among whom both the pregnant women and their husbands were detected to be carriers of Southeast Asian type (-/αα) of α-thalassemia. Prenatal diagnosis was performed by chorionic villus sampling, amniocentesis, or cordocentesis using gap-polymerase chain reaction considered as the golden standard. RESULTS:As a result, we found that the sensitivity and specificity of our noninvasive method were 98.81% and 94.72%, respectively, in the training set as well as 100% and 99.31%, respectively, in the testing set. Moreover, our method could identify all of 885 maternal samples with the Southeast Asian carrier and 36 trisomy samples with 100% of sensitivity in T13, T18, and T21 and 99.89% (1 of 917) and 99.88% (1 of 888) of specificity in T18 and T21, respectively. CONCLUSION:Our method opens the possibility of early screening for maternal genotyping of α-thalassemia, fetal aneuploidies in chromosomes 13/18/21, and hemoglobin Bart hydrops fetalis detection in 1 tube of maternal plasma.

影响因子:1.74
发表时间:2020-02-01
DOI:10.1177/1049909119868657
作者列表:["Suarez ML","Schlaeger JM","Angulo V","Shuey DA","Carrasco J","Roach KL","Ezenwa MO","Yao Y","Wang ZJ","Molokie RE","Wilkie DJ"]

METHODS:OBJECTIVES:Sickle cell disease (SCD) is a serious illness with disabling acute and chronic pain that needs better therapies, but insufficient patient participation in research is a major impediment to advancing SCD pain management. The purpose of this article is to discuss the challenges of conducting an SCD study and approaches to successfully overcoming those challenges. DESIGN:In a repeated-measures, longitudinal study designed to characterize SCD pain phenotypes, we recruited 311 adults of African ancestry. Adults with SCD completed 4 study visits 6 months apart, and age- and gender-matched healthy controls completed 1 visit. RESULTS:We recruited and completed measures on 186 patients with SCD and 125 healthy controls. We retained 151 patients with SCD with data at 4 time points over 18 months and 125 healthy controls (1 time point) but encountered many challenges in recruitment and study visit completion. Enrollment delays often arose from patients' difficulty in taking time from their complicated lives and frequent pain episodes. Once scheduled, participants with SCD cancelled 49% of visits often because of pain; controls canceled 30% of their scheduled visits. To facilitate recruitment and retention, we implemented a number of strategies that were invaluable in our success. CONCLUSION:Patients' struggles with illness, chronic pain, and their life situations resulted in many challenges to recruitment and completion of study visits. Important to overcoming challenges was gaining the trust of patients with SCD and a participant-centered approach. Early identification of potential problems allowed strategies to be instituted proactively, leading to success.

影响因子:2.13
发表时间:2020-01-01
DOI:10.1093/ajcp/aqz108
作者列表:["Mukherjee MB","Colah RB","Mehta PR","Shinde N","Jain D","Desai S","Dave K","Italia Y","Raicha B","Serrao E"]

METHODS:OBJECTIVES:Sickle cell anemia is the commonest genetic disorder in India, and the frequency of the sickle cell gene is very high in the remote tribal areas where facilities are generally limited. Therefore, a rapid and affordable point-of-care test for sickle cell disease is needed. METHODS:The diagnostic accuracy of HemoTypeSC was evaluated against automated high-performance liquid chromatography (HPLC) as the gold standard for its efficacy in a newborn screening program. RESULTS:A total of 1,559 individuals (980 newborns and 579 adults) from four participating centers were analyzed by both methods. HemoTypeSC correctly identified 209 of 211 total hemoglobin (Hb) SS cases, for a 99.1%/99.9% total HbSS sensitivity/specificity. Overall, HemoTypeSC exhibited sensitivity and specificity of 98.1% and 99.1% for all possible phenotypes (HbAA, HbAS, and HbSS) detected. HPLC is relatively expensive and not available in most laboratories in remote tribal areas. CONCLUSIONS:We conclude that the rapid, point-of-care testing device HemoTypeSC test is suitable for population and newborn screening for the HbS phenotype.

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