SCD

SCD
  • 文章类型: Journal Article
    目的:确定主观认知下降(SCD)的个体在结构网络中是否具有全脑网络特征和脑内节点特征的变化,以及有无载脂蛋白E4(APOEε4)的SCD之间是否存在差异。
    方法:这项横断面研究包括36名无APOEε4的无SCD个体(健康对照,HC组),21名患有APOEε4的SCD患者(APOEε4+组),33例SCD无APOEε4(APOEε4组)。使用基于分数各向异性(FA)的确定性纤维跟踪方法构建白质结构网络。采用图论分析三组的全脑网络特征和脑内节点特征。
    结果:关于全脑网络特征,这三个群体在他们的结构网络中都表现出了小世界性。APOEε4+和APOEε4-组的聚类系数(Cp)和局部效率(Eloc)均显著低于HC组(p<0.05),但APOEε4+和APOEε4-组之间的Cp或Eloc没有显着差异。关于脑内结节特征,在一些大脑区域有显著差异,主要是默认模式网络(DMN),枕叶,颞叶,和皮质下区域。APOEeε4+组和APOEeε4-组的脑内结节特征变化不同。
    结论:患有SCD的个体表现出全脑网络特征和结构网络中脑内节点特征的变化。此外,APOEε4+和APOEε4-个体之间存在差异。
    OBJECTIVE: To determine whether individuals with subjective cognitive decline (SCD) have changes in whole-brain network characteristics and intracerebral node characteristics in the structural network, and whether there is a difference between SCD with and without Apolipoprotein E4 (APOEε4).
    METHODS: This cross-sectional study included 36 individuals without SCD without APOEε4 (healthy control, HC group), 21 individuals with SCD with APOEε4 (APOEε4+ group), and 33 individuals with SCD without APOEε4 (APOEε4- group). The white matter structural network was constructed using the fractional anisotropy (FA) based deterministic fiber tracking method. Graph theory was used to analyze the whole-brain network characteristics and intracerebral node characteristics of the three groups.
    RESULTS: Regarding the whole-brain network characteristics, all three groups exhibited small-worldness in their structural networks. The clustering coefficient (Cp) and local efficiency (Eloc) in the APOEε4+ and APOEε4- groups were significantly lower than in the HC group (p < 0.05), but no significant difference in Cp or Eloc was observed between the APOEε4+ and APOEε4- groups. Regarding intracerebral node characteristics, there were significant differences in some brain regions, mainly the default mode network (DMN), the occipital lobe, the temporal lobe, and subcortical regions. The change in intracerebral node characteristics was different between the APOEε4+ group and the APOEε4- group.
    CONCLUSIONS: Individuals with SCD demonstrate changes in whole-brain network characteristics and intracerebral node characteristics in the structural network. Moreover, differences exist between APOEε4+ and APOEε4- individuals.
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  • 文章类型: Journal Article
    镰状细胞病(SCD)不是孤立发生的血液病;它会导致多器官并发症。越来越多的证据表明血管僵硬是其根本原因。本研究旨在研究SCD患者血管内皮僵硬度与左心室功能障碍的关系,并探讨其病理生理学,特别是关于血管扩张剂如一氧化氮(NO)的消耗。
    选择了32名符合SCD标准的患者和40名健康对照受试者进行该病例对照研究。使用肱血流介导的扩张(FMD)进行综合临床评估和内皮功能评估,随着血清NO的测量,随后使用3D斑点追踪超声心动图(STE)和组织多普勒成像(TDI)进行诊断和超声心动图评估。
    与对照组相比,收集的SCD病例显示出系统舒张功能障碍的超声心动图特征,FMD减少,表示这些患者的内皮功能障碍。LDH显示明显升高,与对照组相比,血清NO显着降低。我们还注意到一方面FMD与心室功能障碍的测量值和血清NO水平呈正相关,后者证明NO的减少是内皮功能降低的原因。
    我们提出了迄今为止的第一份报告,概述了通过肱FMD测量的血管僵硬度在诱发SCD左心室功能障碍中的作用。我们建议对补充血清NO储存以延迟微血管损伤的可能策略进行更多研究,反过来,SCD中的心室功能障碍。
    UNASSIGNED: Sickle Cell Disease (SCD) is not a hematologic disease that occurs in isolation; it results in multi-organ complications. There is growing evidence of vascular stiffness as its underlying cause. This study aimed to investigate the relationship between endothelial stiffness and LV dysfunction in SCD patients and to explore its pathophysiology, particularly regarding the depletion of vasodilators such as Nitric Oxide (NO).
    UNASSIGNED: 32 patients with established criteria for SCD and 40 healthy control subjects were selected for this case-control study. Comprehensive clinical assessment and assessment of endothelial function using Brachial Flow-mediated dilation (FMD) were performed, along with serum NO measurement, which was followed by diagnosis and echocardiographic assessment using 3D speckle tracking echocardiography (STE) and tissue Doppler imaging (TDI).
    UNASSIGNED: Collected SCD cases showed echocardiographic features of Systo-diastolic dysfunction with reduced FMD compared to controls, denoting endothelial dysfunction in those patients. LDH showed a marked elevation, while serum NO showed a significant reduction in cases compared with controls. We also noted a positive correlation between FMD on the one hand and measures of ventricular dysfunction and level of serum NO on the other hand, the latter proving that reduction of NO is responsible for reduced endothelial function.
    UNASSIGNED: We present the first report to date to outline the role of vascular stiffness as measured by brachial FMD in the induction of left ventricular dysfunction in SCD. We recommend that more research be conducted regarding possible strategies to replenish serum NO stores to delay microvascular injury and, in turn, ventricular dysfunction in SCD.
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  • 文章类型: Multicenter Study
    镰状细胞病(SCD)是全球范围内的主要公共卫生负担,发病率和死亡率不断增加。该研究评估了与SCD患者死亡率相关的危险因素,2006年至2020年在阿曼的三家医院。分析包括临床表现,血液学,生物化学,和放射学参数,使用抗生素,血液和交换输血。我们的队列包括123例患者(82例男性,41名女性),年龄中位数为27岁(四分位距21-35岁)。SCD相关并发症包括急性胸部综合征(ACS)占52.8%,脾隔离率为21.1%,右上腹综合征占19.5%,17.9%超过>6VOC/年,中风占13.8%。在终点站入场时,病人咳嗽,降低O2饱和度,起病和发烧占24.4%,49.6%,分别为53.6%和68.3%。胸部X线和胸部CT扫描异常占57.7%,和76.4%。实验室参数显示血红蛋白(Hb)和血小板计数从基线显著下降,随着白细胞的大幅上升,来自基线的LDH和CRP(p<0.05,Wilcoxon签名等级检验)。所有患者都接受了抗生素治疗,然而,95.9%和93.5%接受简单输血,和交换输血,66.6%需要无创通气。在死亡原因中,ACS见于32例(26%),脓毒症49例(40%),和杂项42(34%)。32例(26%)患者出现猝死。男性,HbF低,血红蛋白和血小板快速下降,白细胞增加,LDH,铁蛋白,CRP,该队列中与死亡率显著相关.
    Sickle cell disease (SCD) is a major public health burden worldwide with increasing morbidity and mortality. The study evaluates the risk factors associated with mortality in SCD patients, between the years 2006 and 2020 at three hospitals in Oman. The analysis includes clinical manifestations, haematological, biochemical, and radiological parameters, use of antibiotics, and blood and exchange transfusions. Our cohort included 123 patients (82 males, 41 females), with a median age of 27 (Interquartile Range 21-35 years). SCD related complications included acute chest syndrome (ACS) in 52.8%, splenic sequestration in 21.1%, right upper quadrant syndrome in 19.5%, more than > 6 VOC/year in 17.9%, and stroke in 13.8%. At the terminal admission, patients had cough, reduced O2 saturation, crepitation and fever in 24.4%, 49.6%, 53.6% and 68.3% respectively. Abnormal chest X-ray and chest CT scan were seen in 57.7%, and 76.4% respectively. Laboratory parameters showed a significant drop in hemoglobin (Hb) and platelet counts from baseline, with a significant rise in WBC, LDH and CRP from baseline (p < 0.05, Wilcoxon Signed Ranks test). All patients received antibiotics, whereas, 95.9% and 93.5% received simple blood transfusions, and exchange transfusions respectively, and 66.6% required non-invasive ventilation. Among the causes of death, ACS is seen in 32 (26%), sepsis in 49 (40%), and miscellaneous in 42 (34%). Sudden death was seen in 32 (26%) of patients. Male gender, with low HbF, rapid drop in Hb and platelet, and increased in WBC, LDH, ferritin, and CRP, correlated significantly with mortality in this cohort.
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  • 文章类型: Journal Article
    目的:评估产程进展的完善的临床实践包括常规腹部触诊和阴道检查(VE)。然而,VE是主观的,可重复性差,女性痛苦。在这项研究中,我们的目的是评估系统地整合经腹和经会阴超声评估胎儿位置的可行性,psAOP,HPD和SCD监测引产(IOL)妇女的分娩进展。我们还旨在确定超声检查是否可以减轻女性在检查期间的疼痛。
    方法:在三个产妇单元中招募妇女进行IOL检查。对100名妊娠37+0至41+6周的女性进行超声评估。进行基线经腹和经会阴联合扫描,包括胎儿生物测定的评估,脐动脉和大脑中动脉多普勒,羊水指数(AFI),胎儿脊柱和枕骨位置,psAOP,火警局,SCD,和宫颈长度。根据方案进行产时扫描而不是VE。参与者被要求在评估期间通过口头给出0-10的疼痛评分(0表示没有疼痛)来表明他们的疼痛水平。通过混合效应模型对重复测量数据进行分析,以确定影响psAOP之间关系的重要因素,火警局,SCD和交付方式。
    结果:223次产时超声扫描,每位参与者的中位数为2次(四分位距(IQR)=1-3),进行了151次评估,每位参与者的中位数为1次(IQR=0-2)。没有不良的胎儿或母体结局。在排除检查期间硬膜外麻醉的患者后,产时扫描的中位疼痛评分为0(IQR=0-1),VE的中位疼痛评分为3(IQR=0-6).剖宫产和硬膜外麻醉与psAOP变化速率较慢显著相关,HPD和SCD。产妇身高,产次和新生儿出生体重不影响超声测量产程进展.
    结论:全面的经腹和经会阴超声评估可以成功地用于评估产程进展,并可以减轻检查过程中的疼痛程度。超声评估可能能够替代分娩期间的一些经腹和VE检查。本文受版权保护。保留所有权利。
    OBJECTIVE: Well-established clinical practice for assessing progress in labor involves routine abdominal palpation and vaginal examination (VE). However, VE is subjective, poorly reproducible and painful for most women. In this study, our aim was to evaluate the feasibility of systematically integrating transabdominal and transperineal ultrasound assessment of fetal position, parasagittal angle of progression (psAOP), head-perineum distance (HPD) and sonographic cervical dilatation (SCD) to monitor the progress of labor in women undergoing induction of labor (IOL). We also aimed to determine if ultrasound can reduce women\'s pain during such examinations.
    METHODS: Women were recruited as they presented for IOL in three maternity units. Ultrasound assessments were performed in 100 women between 37 + 0 and 41 + 6 weeks\' gestation. A baseline combined transabdominal and transperineal scan was performed, including assessment of fetal biometry, umbilical artery and fetal middle cerebral artery Doppler, amniotic fluid index, fetal spine and occiput positions, psAOP, HPD, SCD and cervical length. Intrapartum scans were performed instead of VE, unless there was a clinical indication to perform a VE, according to protocol. Participants were asked to indicate their level of pain by verbally giving a pain score between 0 and 10 (with 0 representing no pain) during assessment. Repeated measures data were analyzed using mixed-effect models to identify significant factors that affected the relationship between psAOP, HPD, SCD and mode of delivery.
    RESULTS: A total of 100 women were included in the study. Of these, 20% delivered by Cesarean section, 65% vaginally and 15% by instrumental delivery. There were no adverse fetal or maternal outcomes. A total of 223 intrapartum ultrasound scans were performed in 87 participants (13 women delivered before intrapartum ultrasound was performed), with a median of two scans per participant (interquartile range (IQR), 1-3). Of these, 76 women underwent a total of 151 VEs with a median of one VE per participant (IQR, 0-2), with no significant difference between vaginal- or Cesarean-delivery groups. After excluding those with epidural anesthesia during examination, the median pain score for intrapartum scans was 0 (IQR, 0-1) and for VE it was 3 (IQR, 0-6). Cesarean delivery was significantly associated with a slower rate of change in psAOP, HPD and SCD.
    CONCLUSIONS: Comprehensive transabdominal and transperineal ultrasound assessment can be used to assess progress in labor and can reduce the level of pain experienced during examination. Ultrasound assessment may be able to replace some transabdominal and vaginal examinations during labor. © 2024 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
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  • 文章类型: Journal Article
    目标:COVID-19大流行凸显了医疗保健方面的差距。父母协助儿童镰状细胞病管理。了解被诊断患有镰状细胞病的儿童的父母的睡眠是疾病管理的重要方面。我们的目标是确定COVID-19大流行期间18岁或更小的镰状细胞病儿童父母的睡眠特征,调查父母使用的措施来实现宁静的睡眠,并讨论如何改善被诊断为镰状细胞病的儿童的父母的睡眠。
    方法:这项研究对被诊断为镰状细胞病的儿童的父母进行了14次面对面的半结构化访谈。大多数访谈(93%)是在血液学诊所进行的。采用定性主题分析进行数据分析。
    结果:所有父母都报告说他们的孩子因为镰状细胞病而感到疼痛。大多数父母(86.7%)报告他们的孩子被诊断为HbSS。确定了四个主题:在孩子的镰状细胞危机期间难以获得宁静的睡眠,在COVID-19大流行期间睡觉,影响睡眠的因素,以及睡眠障碍和剥夺对父母表现的影响。
    结论:这项研究强调了被诊断患有镰状细胞病的儿童的父母所经历的一些困难,并允许更深入地了解父母在试图控制儿童疾病时的睡眠经历。
    OBJECTIVE: The coronavirus disease pandemic has highlighted disparities in health care. Parents assist in sickle cell disease management in children. Understanding sleep in parents of children who are diagnosed with sickle cell disease is an important facet of disease management. Our objectives were to identify sleep characteristics of parents of children with sickle cell disease age 18 years or younger during the coronavirus disease pandemic, to investigate measures used by parents to achieve restful sleep, and to discuss how sleep may be improved in parents of children diagnosed with sickle cell disease.
    METHODS: This study conducted 14 face-to-face semistructured interviews with parents of children diagnosed with sickle cell disease. A majority of the interviews (93%) were conducted at a hematology clinic. Qualitative thematic analysis was used to analyze data.
    RESULTS: All parents reported that their child experienced pain because of sickle cell disease. Most parents (86.7%) reported that their child was diagnosed with sickle cell anemia. Four themes were identified: difficulty obtaining restful sleep during their child\'s sickle cell crisis, sleep during the coronavirus disease pandemic, factors affecting sleep, and effects of sleep disturbance and deprivation on parental performance.
    CONCLUSIONS: This research has highlighted some of the difficulties experienced by parents of children who are diagnosed with sickle cell disease and allows for additional insight into the sleep experiences of parents as they attempt to manage their child\'s disease.
    BACKGROUND: Osborne JC, Odlum M, Sedrak A. Sleep experiences of parents of children 18 years or younger with sickle cell disease during the COVID-19 pandemic: a qualitative study. J Clin Sleep Med. 2024;20(5):777-782.
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  • 文章类型: Journal Article
    背景:海马是诊断和预测阿尔茨海默病(AD)的最突出的单个感兴趣区域(ROI)。然而,它适用于认知衰退的早期阶段,即,主观认知能力下降(SCD),仍然不确定,哪些值得追求替代或互补区域。杏仁核可能是一个很有前途的候选者,考虑到它在记忆以及其他精神疾病中的含义,例如抑郁和焦虑,这在SCD中很普遍。在这项7特斯拉(T)磁共振成像(MRI)研究中,我们的目的是比较海马体体积测量的贡献,杏仁核,以及它们各自的子字段,用于AD相关研究人群的早期诊断和预测。
    方法:将来自纵向研究的参与者分为SCD(n=29),轻度认知障碍(MCI,n=23),AD(n=22)和健康对照(HC,n=31)。所有参与者在基线时进行了7TMRI检查,并在多达3次访问时进行了广泛的神经心理学测试(基线n=105,1年n=78,3年n=39)。协方差分析(ANCOVA)用于评估杏仁核和海马及其子场的基线体积的组差异。线性混合模型用于估计基线体积对z标度记忆评分的年度变化的影响。所有模型都根据年龄进行了调整,性和教育。
    结果:与HC组相比,患有SCD的个体显示出更小的杏仁核ROI体积(跨越子场的范围-11%至-1%),但海马ROI体积(-2%至1%),海马-杏仁核过渡区(-7%)除外。然而,杏仁核ROI的基线记忆和体积之间的横断面关联较小(std.β[95%CI]范围在0.16[0.08;0.25]和0.46[0.31;0.60]之间)比海马体ROI(在0.32[0.19;0.44]和0.53[0.40;0.67]之间)。Further,在杏仁核ROI和海马ROI中,HC和SCD组的基线体积与年记忆变化的相关性同样较弱.在MCI组中,杏仁核ROI的体积与相关的年度记忆下降[95%CI]相关,对于体积比HC组小20%的个体,其范围在-0.12[-0.24;0.00]和-0.26[-0.42;-0.09]之间.然而,海马区ROI的影响更强,相应的年记忆下降范围在-0.21[-0.35;-0.07]和-0.31[-0.50;-0.13]之间。
    结论:杏仁核ROI的体积,通过7TMRI确定,可能有助于客观和无创地识别SCD患者,因此,有助于早期诊断和治疗有患AD痴呆风险的个体,然而,与其他精神疾病的相关性应在进一步的研究中进行评估。杏仁核在预测SCD组纵向记忆变化中的价值仍然值得怀疑。主要在MCI患者中,超过3年的记忆力下降似乎与海马ROI的体积比杏仁核ROI更密切相关。
    The hippocampus is the most prominent single region of interest (ROI) for the diagnosis and prediction of Alzheimer\'s disease (AD). However, its suitability in the earliest stages of cognitive decline, i.e., subjective cognitive decline (SCD), remains uncertain which warrants the pursuit of alternative or complementary regions. The amygdala might be a promising candidate, given its implication in memory as well as other psychiatric disorders, e.g. depression and anxiety, which are prevalent in SCD. In this 7 tesla (T) magnetic resonance imaging (MRI) study, we aimed to compare the contribution of volumetric measurements of the hippocampus, the amygdala, and their respective subfields, for early diagnosis and prediction in an AD-related study population.
    Participants from a longitudinal study were grouped into SCD (n = 29), mild cognitive impairment (MCI, n = 23), AD (n = 22) and healthy control (HC, n = 31). All participants underwent 7T MRI at baseline and extensive neuropsychological testing at up to three visits (baseline n = 105, 1-year n = 78, 3-year n = 39). Analysis of covariance (ANCOVA) was used to assess group differences of baseline volumes of the amygdala and the hippocampus and their subfields. Linear mixed models were used to estimate the effects of baseline volumes on yearly changes of a z-scaled memory score. All models were adjusted to age, sex and education.
    Compared to the HC group, individuals with SCD showed smaller amygdala ROI volumes (range across subfields -11% to -1%), but not hippocampus ROI volumes (-2% to 1%) except for the hippocampus-amygdala-transition-area (-7%). However, cross-sectional associations between baseline memory and volumes were smaller for amygdala ROIs (std. ß [95% CI] ranging between 0.16 [0.08; 0.25] and 0.46 [0.31; 0.60]) than hippocampus ROIs (between 0.32 [0.19; 0.44] and 0.53 [0.40; 0.67]). Further, the association of baseline volumes with yearly memory change in the HC and SCD groups was similarly weak for amygdala ROIs and hippocampus ROIs. In the MCI group, volumes of amygdala ROIs were associated with a relevant yearly memory decline [95% CI] ranging between -0.12 [-0.24; 0.00] and -0.26 [-0.42; -0.09] for individuals with 20% smaller volumes than the HC group. However, effects were stronger for hippocampus ROIs with a corresponding yearly memory decline ranging between -0.21 [-0.35; -0.07] and -0.31 [-0.50; -0.13].
    Volumes of amygdala ROIs, as determined by 7T MRI, might contribute to objectively and non-invasively identify patients with SCD, and thus aid early diagnosis and treatment of individuals at risk to develop dementia due to AD, however associations with other psychiatric disorders should be evaluated in further studies. The amygdala\'s value in the prediction of longitudinal memory changes in the SCD group remains questionable. Primarily in patients with MCI, memory decline over 3 years appears to be more strongly associated with volumes of hippocampus ROIs than amygdala ROIs.
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  • 文章类型: Journal Article
    UNASSIGNED:主观认知功能下降(SCD)被认为是客观认知功能损害的独立危险因素,如痴呆和轻度认知障碍(MCI),但机制尚不清楚。
    UNASSIGNED:当前的研究由两部分组成,其中第一项包括1,010名患有SCD的老年人和535名正常对照,随访1年.第二项横断面研究包括94名患有SCD的老年人和64名健康对照。与第一批不同,第二项研究中的受试者接受了磁共振成像,并进行了更详细的神经心理学测试,例如小型状态检查(MMSE),蒙特利尔认知评估(MoCA)数字跨度,听觉语言学习测试(AVLT),联想学习测试(ALT),口语流利(VF),韦克斯勒的填充物和韦克斯勒的积木。
    UNASSIGNED:在队列1中,我们发现与正常对照组相比,SCD具有更高的客观认知障碍风险(X2=20.354,p=0.002),Cox回归分析结果也提示SCD是客观认知功能下降的危险因素(p<0.001,HR=2.608,95CI:2.213-3.075)。在研究2中,我们发现MoCA的分数,数字跨度,口语流利,老年SCD患者的韦氏充盈率明显低于正常对照组,但延髓中额回(RMFG)的皮质厚度明显高于正常对照组(p<0.05)。
    UNASSIGNED:SCD是一种认知相关疾病,具有多认知领域损害,这与客观认知障碍的高风险相关。此外,左侧延髓中额回(RMFG)皮质厚度增加可能是SCD认知功能减退的重要机制。
    UNASSIGNED: Subjective cognitive decline (SCD) is considered as an independent risk factor for objective cognitive impairment, such as dementia and mild cognitive impairment (MCI), but the mechanism is unclear.
    UNASSIGNED: The current study consisted of two parts, the first of which included 1,010 older adults with SCD and 535 normal controls and was followed for 1 year. The second cross-sectional study included 94 older adults with SCD and 64 healthy controls. Unlike the first cohort, subjects in the second study underwent magnetic resonance imaging and had more detailed neuropsychological tests, such as Mini- mental State Examination (MMSE), Montreal Cognitive Assessment (MoCA), Digit Span, Auditory Verbal Learning Test (AVLT), Associative Learning Test (ALT), Verbal Fluency (VF), Wechsler\'s filling and Wechsler\'s building blocks.
    UNASSIGNED: In cohort 1, we found that SCD had a higher risk of objective cognitive impairment compared to normal controls (X2 = 20.354, p = 0.002), and the results of Cox Regression analysis also suggest that SCD was a risk factor for objective cognitive decline (p < 0.001, HR = 2.608, 95%CI: 2.213-3.075). In study 2, we found that the scores of MoCA, digit span, verbal fluency, and Wechsler\'s filling of SCD elderly were significantly lower than those of normal controls, but the cortical thickness of the rostral middle frontal gyrus (RMFG) was significantly higher than that of normal controls (p < 0.05).
    UNASSIGNED: SCD is a cognition-related disease with multi-cognitive domain impairment, which is associated with a higher risk of objective cognitive impairment. Moreover, the increased cortical thickness of the left rostral middle frontal gyrus (RMFG) might be an important mechanism of cognitive decline in SCD.
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  • 文章类型: Journal Article
    背景:染色体异常影响许多儿童,这导致他们的高发病率和死亡率。所以,植入前基因检测(PGT)是一种不断发展的技术,用于检测已知为携带者或受特定突变影响的夫妇胚胎中的特定遗传疾病。同样,它可以用于高龄产妇,这是染色体异常的高风险。虽然PGT是许多遗传性染色体疾病的解决方案,许多伦理困境围绕着它的应用。因此,这项研究的目的是评估社区对PGT的认识和接受程度,这最终将通过东部省的无病婴儿建立一个更健康的社会,沙特阿拉伯王国(KSA)。
    方法:在沙特阿拉伯东部省的人群中进行了一项基于横断面问卷调查的定性研究。问卷以阿拉伯语设计,并通过社交媒体平台以电子方式分发。
    结果:该研究包括837名参与者,年龄18~65岁,平均年龄33.5±11.9岁。在53.7%的老年组(50岁或以上)中检测到良好的意识和接受度,而在年轻年龄组中为39.5%。此外,44.9%的女性参与者有良好的意识,而男性为34.2%(p=0.033)。儿童数量较多的参与者对PGT的认识和接受度明显更高。此外,44.3%的参与者知道有人需要辅助生殖技术,有良好的意识和接受水平相比,36.9%的人没有(p=.033)。
    结论:发现东部省的沙特公民对PGT的看法很低。需要增加他们对这种技术的看法,因为众所周知,许多染色体异常在这些人群中普遍存在,尤其是镰状细胞病.实现这一目标最终将导致减少流行遗传疾病的负担。由于沙特人的意见几乎受到文化和宗教观点的影响,应该注意这些方面。
    BACKGROUND: Chromosomal abnormalities affect many children which lead to high rates of morbidity and mortality among them. So, preimplantation genetic testing (PGT) is an evolving technology used to detect a specific genetic disorder in embryos of a couple known to be carriers or affected by a specific mutation. Similarly, it could be used in advanced maternal age which is a high risk of chromosomal abnormalities. Although PGT is a solution for many inherited chromosomal disorders, many ethical dilemmas surround its application. Thus, the aim of this study is to evaluate the community awareness and acceptance of PGT which will eventually lead to a healthier society through disease-free babies in Eastern Province, Kingdom of Saudi Arabia (KSA).
    METHODS: A qualitative cross-sectional questionnaire-based study was conducted within the population of the Eastern Province of Saudi Arabia. The questionnaire was designed in Arabic and distributed electronically through social media platforms.
    RESULTS: The study included 837 participants, whose ages ranged from 18 to 65 years with the mean age 33.5 ± 11.9 years. Good awareness and acceptance were detected among 53.7% of the old aged group (50 years or more) compared to 39.5% of the young age group. Also, 44.9% of female participants had good awareness in comparison to 34.2% of males (p=.033). Participants with a higher number of children had significantly higher awareness and acceptance of PGT. Also, 44.3% of participants who knew someone in need of assisted reproductive technology, had good awareness and acceptance levels compared to 36.9% of those who did not (p=.033).
    CONCLUSIONS: The perception of Eastern Province\'s Saudi citizens toward PGT is found to be low. Increasing their perception toward such technology is needed as it is known that many chromosomal abnormalities are prevalent among this population, particularly sickle cell disease. Achieving this goal will eventually lead to decrease the burden of prevalent inherited diseases. Since Saudis\' opinions are almost influenced by cultural and religious points of view, care should be given to these aspects.
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  • 文章类型: Journal Article
    目的:主观认知功能下降(SCD)是阿尔茨海默病(AD)的最早症状阶段,APOEε4等位基因是散发性AD的最强遗传风险因子。基于图论,研究了APOEε4的SCD患者的静息状态功能连接(rsFC),以探讨APOEε4对SCD患者rsFC网络特性的影响。
    方法:这项横断面研究包括来自19名患有APOEε4(SCD)的SCD患者的MRI图像数据,29例无APOEε4(SCD-)的SCD患者,和30名没有APOEε4的正常对照(NC-)个体。我们基于解剖自动标记(AAL)90图谱生成了二进制矩阵来构建功能网络。然后,我们通过图论计算了整个脑网络特征和脑内节点特征。
    结果:对于整个大脑网络特征,所有三组都表现出了小世界。SCD组提高了代偿信息传递速度,增强了整合能力。该组脑内结节特征也具有高度异质性,主要在默认模式网络中,左侧枕上回,和双侧壳核。
    结论:APOEε4影响SCD患者的脑功能网络,可能是鉴别SCD的潜在指标。
    OBJECTIVE: Subjective cognitive decline (SCD) is the earliest symptom stage of Alzheimer\'s disease (AD), and the APOEε4 allele is the strongest genetic risk factor for sporadic AD. Based on graph theory, the resting state functional connectivity (rsFC) in SCD patients with APOEε4 was studied to explore the effect of APOEε4 on the rsFC network properties of SCD patients.
    METHODS: This cross-sectional study included MRI image data from 19 SCD patients with APOEε4 (SCD+), 29 SCD patients without APOEε4 (SCD-), and 30 normal control (NC-) individuals without APOEε4. We generated a binary matrix based on anatomical automatic labeling (AAL) 90 atlas to construct the functional network. We then calculated the whole brain network characteristics and intracerebral node characteristics by graph theory.
    RESULTS: For the whole brain network characteristics, all three groups showed small-worldness. The SCD+ group had increased compensatory information transfer speed and enhanced integration capability. This group also had high heterogeneity for intracerebral node characteristics, mainly in the default mode network, left superior occipital gyrus, and bilateral putamen.
    CONCLUSIONS: APOEε4 effects the functional brain network in patients with SCD and may be a potential indicator for the identification of SCD.
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  • 文章类型: Journal Article
    牛奶产量受多种因素影响,包括遗传和环境因素及其相互作用。动物健康,尤其是乳房健康,通常通过体细胞的数量来评估。本研究描述了多态性在ACACA中的作用,BTN1A1,LPL,和SCD基因对每日牛奶产量的影响,脂肪,蛋白质百分比和体细胞计数。在这项研究中,包括590只白色短尾山羊(WSH)和棕色短尾山羊(BSH)。通过PCR-RFLP和多重PCR进行SNP基因分型,然后进行SNaPshot微测序分析。使用具有重复测量的线性混合模型来鉴定所研究的基因/SNP与所选性状之间的遗传关联。所有选择的基因在测试的山羊种群中都是多态性的,并且与牛奶性状显着相关。只有BTN1A1(SNPg.599A>G)显示与体细胞评分显著相关。Bonferroni校正后,LPLg.300G>A对每日产奶量和脂肪百分比的显着影响,LPLg.185G>蛋白质百分比,和LPLG50C,SCDEX3_15G>A,在脂肪百分比上发现SCDEX3_68A>G。环境因素的重要性,比如羊群年效应,挤奶月份,和泌乳顺序对所有牛奶性能指标进行了确认。
    Milk production is influenced by many factors, including genetic and environmental factors and their interactions. Animal health, especially udder health, is usually evaluated by the number of somatic cells. The present study described the effect of polymorphisms in the ACACA, BTN1A1, LPL, and SCD genes on the daily milk yield, fat, and protein percentages and somatic cell count. In this study, 590 White Shorthaired (WSH) and Brown Shorthaired (BSH) goats were included. SNP genotyping was performed by PCR-RFLP and multiplex PCR followed by SNaPshot minisequencing analysis. The linear mixed model with repeated measurement was used to identify the genetic associations between the studied genes/SNPs and chosen traits. All selected genes were polymorphic in the tested goat populations and showed significant associations with milk traits. Only BTN1A1 (SNP g.599 A > G) showed a significant association with the somatic cell score. After Bonferroni correction, a significant effect of LPL g.300G > A on daily milk yield and fat percentage, LPL g.185G > T on protein percentage, and LPL G50C, SCD EX3_15G > A, and SCD EX3_68A > G on fat percentage was found. The importance of environmental factors, such as the herd-year effect, month of milking, and lactation order on all milk performance indicators was confirmed.
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