SCA

SCA
  • 文章类型: Journal Article
    背景:镰状细胞病(SCD)是一种常染色体隐性遗传疾病,其特征在于存在称为镰状血红蛋白(HbS)的突变形式的血红蛋白(Hb)。患有SCD的个体易受各种骨关节并发症的影响。骨髓炎是影响胫骨的常见感染,股骨和肱骨的骨干,和椎骨。
    目的:本研究的目的是确定SCD患者骨髓炎的诊断指标。
    方法:这项研究是描述性的,分析,非干预性,对患有血管闭塞性危象(VOC)和/或骨髓炎的SCD儿科患者的前瞻性研究,通过实验室和放射学特征鉴定。纳入符合纳入标准的患者的回顾性资料。统计分析包括对队列中主要和次要结局的描述。
    结果:本研究共纳入28名儿童。参与者的年龄从11个月到13岁不等。男性占参与者的大多数(64.3%)。大多数参与者(89.3%)的血培养没有增长;然而,7.1%有沙门氏菌,只有3.6%的人患有革兰氏阳性球菌。大多数病例(75%)患有白细胞增多症。血小板增多主要存在于VOC患者(40%)。CRP为1-4.9mg/dL,主要是骨髓炎患者(50%)。骨髓炎或骨髓炎和VOC患者的铁蛋白水平超过5000ng/mL(50%)。超声检查显示28例接受检查的患者中有24例没有髋关节积液。X线平片检查28例未见异常;MRI,3例骨髓水肿伴骨质强化,两名(66.7%)患者并发骨髓炎,最后(33.3%)患有骨髓炎和VOC。在接受检查的28人中,只有7人进行了抽吸,其中6例(85.7%)并发骨髓炎,而最后一个(14.3%)患有急性胸部综合征。
    结论:根据本研究的结果,我们建议进行个性化的多学科检查(血液学,传染病,骨科手术,和介入放射学)用于怀疑患有VOC的骨髓炎的SCD患者,考虑整个临床病史以及实验室和MRI结果。
    BACKGROUND: Sickle cell disease (SCD) is an autosomal recessive genetic disorder characterized by the presence of a mutated form of hemoglobin (Hb) known as sickle hemoglobin (HbS). Individuals with SCD are susceptible to a variety of osteoarticular complications. Osteomyelitis is a commonly seen infection affecting the tibia, diaphysis of the femur and humerus, and vertebras.
    OBJECTIVE: The aim of this study was to define the indicators suggesting the diagnosis of osteomyelitis in patients with SCD.
    METHODS: This study is a descriptive, analytical, non-interventional, prospective study of pediatric patients with SCD admitted with vaso-occlusive crisis (VOC) and/or osteomyelitis, which were identified by laboratory and radiological features. Retrospective data was included for patients who met the inclusion criteria. The statistical analysis included a description of the primary and secondary outcomes in the cohort.
    RESULTS: A total of 28 children were included in this study. Participants\' ages ranged from 11 months to 13 years. Males represented the majority (64.3%) of the participants. The blood culture of most of the participants (89.3%) showed no growth; however, 7.1% had salmonella, and only 3.6% had Gram-positive cocci. Most cases (75%) had leukocytosis. Thrombocytosis was present mainly in patients with VOC (40%). CRP was 1-4.9 mg/dL, mainly in patients with osteomyelitis (50%). The ferritin level exceeded 5000 ng/mL in patients with osteomyelitis or both osteomyelitis and VOC (50%). Ultrasound examinations revealed no hip effusion in 24 of the 28 examined patients. A plain X-ray examination showed no abnormality in 24 out of the 28 examined cases; with MRI, three cases exhibited marrow edema with bone enhancement, two (66.7%) were complicated by osteomyelitis, and the last (33.3%) had osteomyelitis and VOC. Aspiration was performed only in seven of the 28 examined, of which six (85.7%) were complicated by osteomyelitis, while the last one (14.3%) had acute chest syndrome.
    CONCLUSIONS: Based on the outcomes of this study, we recommend an individualized multidisciplinary examination (hematology, infectious disease, orthopedic surgery, and interventional radiology) for SCD patients with suspected osteomyelitis admitted with VOC, considering the entire clinical history and laboratory and MRI results.
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  • 文章类型: Journal Article
    常染色体显性转移的SCA(脊髓小脑共济失调)是遗传性小脑共济失调的一个子集。这些进行性神经系统疾病具有共济失调的临床特征,并且源于小脑的破坏。这些疾病也会影响其他地区,包括脑干.CAG核苷酸的频繁增殖可以编码多聚谷氨酰胺,因此,产生有毒的聚谷氨酰胺(polyQ)蛋白,导致许多类型的SCA。它们根据特定的基因突变进行分类。SCA的主要症状,步态共济失调和不协调,眼球震颤,视力问题,和构音障碍,可以提到。在这项研究中,从2019年11月至2021年9月,31名被怀疑患有SCA疾病的伊朗人被临床诊断。对于这31名怀疑脊髓小脑共济失调的患者,进行PCR,分析基于垂直电泳。对于SCA3患者,进行了TP-PCR技术,并通过毛细管电泳进行了评估。对于所有31名患者,根据常规PCR获得的结果,PCR功能是成功的。三个核苷酸重复的数量在22个人的正常范围内,报告了9名患者。研究显示,根据TP-PCR技术,3名疑似SCA的人感染SCA3,这是使用PCR方法诊断出SCA3的7个人。由于本试验的目的是为本病提供更准确的诊断方法和产前诊断,TP-PCR方法被证明更适合用于脊髓小脑共济失调3型中异常三核苷酸CAG的诊断。
    SCA (spinocerebellar ataxia) which is autosomal dominantly transferred is a subset of inherited cerebellar ataxia. These progressive neurological diseases have clinical features of ataxia and are derived from the destruction of the cerebellum. These diseases can also affect other areas, including the brainstem. Frequent proliferation of CAG nucleotides can encode polyglutamine and, as a result, produce the toxic polyglutamine (poly Q) protein that leads to many types of SCAs. They are categorized based on specific genetic mutations. The main symptoms of SCA, gait ataxia and incoordination, nystagmus, vision problems, and dysarthria, can be mentioned. In this study, 31 Iranians who were suspected of SCA disease were clinically diagnosed from November 2019 to September 2021. For these 31 patients suspected of spinocerebellar ataxia, PCR was performed, and the analysis was based on vertical electrophoresis. For SCA3 patients, the TP-PCR technique was carried out and evaluated by capillary electrophoresis. For all 31 patients, PCR function was successful according to the results attained by conventional PCR. The number of three nucleotide replications was within the normal range for 22 people, and nine patients were reported. Studies showed that three people suspected of SCA were infected with SCA3 according to the TP-PCR technique, and this was while seven people were diagnosed with SCA3 using the PCR method. As the purpose of this test is to provide a more accurate diagnostic method and prenatal diagnosis of this disease, the TP-PCR method proved to be more suitable when applied for the diagnosis of abnormal trinucleotides CAG in spinocerebellar ataxia type 3.
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  • 文章类型: Journal Article
    内镜逆行胰胆管造影术(ERCP)是一种常见的微创手术。在接受ERCP的患者中,空气栓塞相对罕见,约占所执行程序的2-3%,灾难性的空气栓塞更加罕见。空气栓塞的症状可能来自心肺和神经系统。在ERCP并发症的鉴别诊断中记住这一点很重要,因为早期发现至关重要。在这里介绍的案例中,事件发生后立即进行的诊断性CT扫描使人们意识到空气栓塞可能有多大。CT结果显示气泡进入上腔静脉和下腔静脉。胆管中已经捕获了空气,十二指肠壁,心,股静脉和颅内。这种并发症的危险因素包括以前的胆道手术,假体和支架的存在,胆管炎,肝肿瘤和解剖异常,如肝胆瘘,以及肝内和肝外解剖渗漏。由于气体栓塞与严重的健康后果有关,对问题的了解和充分的准备可以减少问题的发生。在执行该程序时,应注意基本且易于获得的预防措施,如患者的血液动力学状态,在手术过程中充分的水合和定位。
    Endoscopic retrograde cholangiopancreatography (ERCP) is a commonly performed minimally invasive procedure. Air embolism in a patient undergoing ERCP is relatively rare, accounting for approximately 2-3% of procedures performed, and a catastrophic air embolism is even rarer. Symptoms of air embolism can come from the cardiopulmonary and nervous system. It is important to remember this in the differential diagnosis of complications of ERCP, as early detection is crucial. In the case presented here, the diagnostic CT scan performed immediately after the incident brings awareness of how massive an air embolism can be. The CT results showed gas bubbles entering both the superior and inferior vena cava. The presence of air has been captured in the bile ducts, duodenum wall, heart, femoral veins and intracranially. Risk factors for this complication include previous biliary surgeries, the presence of prostheses and stents, cholangitis, liver tumors and anatomical anomalies such as hepatobiliary fistulas, as well as intrahepatic and extrahepatic anatomical leaks. As gas embolism is associated with serious health consequences, knowledge of the problem and adequate preparation may reduce the occurrence of the problem. Attention should be paid to basic and easily obtainable precautions when performing the procedure, such as the patient\'s hemodynamic status, adequate hydration and positioning during the procedure.
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  • 文章类型: Journal Article
    背景:在没有药物治疗选择的情况下,脊髓小脑性共济失调的标准治疗包括对症物理治疗和言语治疗。迫切需要新的治疗选择。经颅磁刺激是一种很有前途的治疗选择,但适用性受到长时间刺激方案的限制。
    方法:在这项随机假对照临床试验中,患者被分配到verum(n=15)或sham(n=18)小脑经颅磁刺激.为了产生最佳的治疗效果,在研究期间,两个干预组接受强化物理治疗.
    结果:在verum组患者的共济失调评估和评级量表上,共济失调严重程度降低了1.6分(p<0.001)。Verum组的临床改善明显更大,与假手术组相比(p<0.01)。治疗效果主要通过改善阑尾协调来实现。Verum组患者的8米步行测试(p<0.05)和PATA率(p<0.01)也显着提高。
    结论:小脑rTMS可改善脊髓小脑共济失调患者的共济失调严重程度。将治疗持续时间浓缩至仅5天而不降低治疗效果有利于适用性,因此扩大了对更大患者群体的可用性。
    BACKGROUND: In absence of drug therapy options, standard treatment for spinocerebellar ataxia consists of symptomatic physiotherapy and speech therapy. New therapeutic options are urgently needed. Transcranial magnetic stimulation is a promising therapeutic option, but applicability is limited by lengthy duration of stimulation protocols.
    METHODS: In this randomized sham controlled clinical trial, patients were assigned to verum (n = 15) or sham (n = 18) cerebellar transcranial magnetic stimulation. To yield best possible treatment effects, both intervention groups received intensified physiotherapy for the duration of the study.
    RESULTS: Ataxia severity was reduced by 1.6 points on the Scale for assessment and Rating of Ataxia among patients in the verum group (p < 0.001). Clinical improvement was significantly larger in the verum group, compared to the sham group (p < 0.01). The treatment effect was mainly carried by improved appendicular coordination. Patients in the verum group also significantly improved in the 8 Meter Walk Test (p < 0.05) and PATA rate (p < 0.01).
    CONCLUSIONS: Cerebellar rTMS ameliorates ataxia severity in patient with spinocerebellar ataxia. Condensing treatment duration to only 5 days without reduction of treatment effects facilitates applicability and therefore broadens availability to larger patient populations.
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  • 文章类型: Journal Article
    在不同基因的编码区中扩增的CAG重复是显性遗传脊髓小脑共济失调(SCA)的最常见原因。这些重复序列通过种系是不稳定的,更大的重复导致更早的发作。我们测量了在平均8.5年的时间间隔内从30个SCA1,50个SCA2,74个SCA3和30个SCA7个体收集的血液样本中的体细胞扩增,以及来自SCA1,SCA3和SCA7个体的死后组织和胎儿组织,以检查生命不同阶段的体细胞扩张。我们表明,随着时间的推移,血液中的躯体镶嵌性增加。SCA之间的扩增水平显着不同,并且与CAG重复长度相关。与那些还没有表现出症状的患者相比,表现出疾病的SCA7患者的扩张水平更高。与血液相比,来自SCA个体的脑组织具有更大的扩张。小脑在所研究的大脑区域中镶嵌性最低,随着ATXNs和DNA修复基因的高表达。这在皮质上是相反的,具有最高的镶嵌性和较低的ATXNs和DNA修复基因的表达。胎儿皮质没有表现出重复的不稳定性。这项研究表明,CAG重复在SCA个体的血液和大脑中的生命过程中越来越不稳定,具有基因和组织特异性模式。
    Expanded CAG repeats in coding regions of different genes are the most common cause of dominantly inherited spinocerebellar ataxias (SCAs). These repeats are unstable through the germline, and larger repeats lead to earlier onset. We measured somatic expansion in blood samples collected from 30 SCA1, 50 SCA2, 74 SCA3, and 30 SCA7 individuals over a mean interval of 8.5 years, along with postmortem tissues and fetal tissues from SCA1, SCA3, and SCA7 individuals to examine somatic expansion at different stages of life. We showed that somatic mosaicism in the blood increases over time. Expansion levels are significantly different among SCAs and correlate with CAG repeat lengths. The level of expansion is greater in individuals with SCA7 who manifest disease compared to that of those who do not yet display symptoms. Brain tissues from SCA individuals have larger expansions compared to the blood. The cerebellum has the lowest mosaicism among the studied brain regions, along with a high expression of ATXNs and DNA repair genes. This was the opposite in cortices, with the highest mosaicism and lower expression of ATXNs and DNA repair genes. Fetal cortices did not show repeat instability. This study shows that CAG repeats are increasingly unstable during life in the blood and the brain of SCA individuals, with gene- and tissue-specific patterns.
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  • 文章类型: Journal Article
    微生物诱导方解石沉淀(MICP)是一种环境友好的生物修复技术。MICP胶结土的无侧限抗压强度(UCS)是评价其修复效果的重要指标。本研究提出了一种机器学习技术,利用正弦余弦算法(SCA)来优化核极限学习机(KELM)的正则化系数C和核宽度γ,以预测MICP胶结土的UCS。为了评估拟议模型的性能,获得了包含180组MICP胶结土UCS的数据集。通过SCA-KELM获得的结果与通过随机森林算法(RF)获得的结果进行了比较,支持向量机(SVM)还有KELM.这些模型的性能是通过MAE的分数来评估的,RMSE,和R2。结果表明,SCA-KELM算法表现出最佳的预测性能(总分:21)。使用SCA优化KELM后,总分提高了110%,这表明SCA显著提高了KELM的性能。模型开发后,SCA-KELM的最佳种群规模确定为50.基于互信息测试,通过使用重要性得分作为划分标准,开发了一种创新的方法来对因素敏感性进行分类。该方法将影响因素分为三个等级:高(重要性得分:8.03-11.14%),中等(重要性得分:5.93-7.25%),和低(重要性得分:3.23-5.18%)。这些结果表明,提出的SCA-KELM算法可以被视为预测MICP胶结土UCS的强大工具。
    Microbially induced calcite precipitation (MICP) is an eco-friendly bio-remediation technology. The unconfined compressive strength (UCS) of MICP cemented soil is an important indicator of repair effectiveness. This study proposes a machine learning technique utilizing the Sine Cosine Algorithm (SCA) to optimize the regularization coefficient C and kernel width γ of the kernel extreme learning machine (KELM) to predict the UCS of MICP cemented soil. To evaluate the performance of the proposed models, a dataset containing 180 groups of the UCS of MICP cemented soil was obtained. The results obtained by SCA-KELM were compared with those obtained by the Random Forest algorithm (RF), Support Vector Machine (SVM), and KELM. The performance of these models was evaluated by the scores of MAE, RMSE, and R2. The results indicate that the SCA-KELM algorithm exhibits optimal prediction performance (Total score: 21). After optimizing KELM with SCA, the total score improved by 110%, suggesting that SCA significantly enhances the KELM performance. After model development, the optimal population size for SCA-KELM was determined to be 50. Based on the mutual information test, an innovative method was developed for categorizing factor sensitivity by employing importance scores as the partitioning criterion. This method categorizes the influencing factors into three tiers: high (importance score: 8.03-11.14%), medium (importance score: 5.93-7.25%), and low (importance score: 3.23-5.18%). These results suggest that the proposed SCA-KELM algorithm can be regarded as a powerful tool for predicting the UCS of MICP cemented soil.
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  • 文章类型: Journal Article
    精子粘附在载玻片上是使用CASA系统进行鱼精子运动性分析的主要问题之一。为了缓解这种情况,白蛋白是最常用于活化溶液的补充剂。然而,在欧洲白鱼(Coregonuslavaretus)精子活力分析中,没有使用白蛋白(各种浓度)以外的补充剂的数据。在本研究中,使用三种抗粘连补充剂(白蛋白,酪蛋白,PluronicF-127),将其添加到Billard溶液中(BS:20mMTris,1mMCaCl2,154mMNaCl,不同浓度(0.0;0.1;0.2;0.5;1.0;2.0%)的30mM甘氨酸,pH9.0)。值得注意的是,添加最低浓度(0.1%)的白蛋白,酪蛋白,与纯BS相比,或对BS的pluronic对白鱼精子的运动和动力学参数有显着影响。补充有0.2-0.5%白蛋白的BS是本实验中用于白鱼精子运动性激活的最合适变体。与相同浓度的酪蛋白相比,以1.0-2.0%浓度补充pluronic的BS导致几乎所有CASA参数的值明显更高。此外,在pluronic的该变体中确定的CASA参数(1.0-2.0%)与当BS补充有相同白蛋白浓度时的CASA参数相似。这表明,而不是白蛋白,BS中较高浓度的pluronic可用于分析白鱼精子活力。
    Sperm adhering to glass slides is one of the main problems during fish sperm motility analyses with CASA systems. To mitigate this, albumin is the supplement added most frequently to activating solutions. However, there is no data on the use of supplements other than albumin (in various concentrations) in analyses of European whitefish (Coregonus lavaretus) sperm motility. This issue was investigated in the presented research using three anti-adhesive supplements (albumin, casein, Pluronic F-127) that were added to Billard solution (BS: 20 mM Tris, 1 mM CaCl2, 154 mM NaCl, 30 mM glycine at pH 9.0) at different concentrations (0.0; 0.1; 0.2; 0.5; 1.0; 2.0%). It was noted that the addition of the lowest concentration (0.1%) of albumin, casein, or the pluronic to BS had a significant effect on the motility and kinetic parameters of whitefish sperm compared to pure BS. BS supplemented with 0.2-0.5% albumin was the most appropriate variant used for whitefish sperm motility activation in the present experiment. BS supplemented with the pluronic at 1.0-2.0% concentrations resulted in significantly higher values of almost all CASA parameters compared to casein at the same concentrations. Moreover, CASA parameters determined in this variant of the pluronic (1.0-2.0%) were similar to those when BS was supplemented with the same albumin concentrations. This indicated that instead of albumin, the pluronic at higher concentrations in BS might be used to analyze whitefish sperm motility.
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  • 文章类型: Journal Article
    随着物联网(IoT)近年来取得重大进展,与数据收集和分析相关的挑战已成为公共安全领域的紧迫问题。当被用来对付广泛的犯罪网络时,传统的深度学习模型遇到了诸如计算复杂性提高等问题,运营效率低下,甚至系统故障。因此,这篇研究文章介绍了一个复杂设计的框架,用于检测商业犯罪,采用模块化优化的Louvain方法(LM)算法。此外,建立了基于卷积神经网络(CNN)的模型来确定扩展法律援助的可行性,其中通过利用与各种法律文本语料库对齐的TFIDF和Word2vec算法来促进特征转换。此外,超参数优化是使用正弦余弦算法(SCA)完成的,最终实现相关法律指导的分类。实验结果全面肯定了该模型的特殊训练效果。商业犯罪识别模型,以本文提出的模块化优化为基础,巧妙地辨别商业贸易网络内的犯罪集团,准确率超过90%。这授权了对此类集团的识别,并赋予司法领域相关的法律见解。
    With the Internet of Things (IoT) making significant strides in recent years, the challenges associated with data collection and analysis have emerged as a pressing concern in public security. When employed to tackle extensive criminal networks, the conventional deep learning model encounters issues such as heightened computational complexity, sluggish operational efficiency, and even system failures. Consequently, this research article introduces an intricately devised framework for detecting commercial offenses, employing a modularity-optimized Louvain-Method (LM) algorithm. Additionally, a convolutional neural networks (CNN)-based model is formulated to determine the feasibility of extending legal aid, wherein feature transformation is facilitated by utilizing TFIDF and Word2vec algorithms aligned with diverse legal text corpora. Furthermore, the hyper-parameter optimization is accomplished using the sine cosine algorithm (SCA), ultimately enabling the classification of relevant legal guidance. The experimental outcomes comprehensively affirm the exceptional training effectiveness of this model. The commercial crime identification model, grounded in modular optimization as proposed in this article, adeptly discerns criminal syndicates within the commercial trading network, achieving an accuracy rate exceeding 90%. This empowers the identification of such syndicates and bestows the judicial sphere with pertinent legal insights.
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  • 文章类型: Journal Article
    小脑共济失调(CA)代表具有多种病因和高度表型变异性的神经系统疾病。尽管对发病机制的理解取得了进展,到目前为止,几乎没有可用的治疗方法。关闭临床前研究和治疗试验之间的循环很重要,考虑到CA对患者健康的影响以及小脑在多个领域的作用。由于CA研究的快速发展,有必要总结主要发现并讨论未来的方向。
    我们的讨论集中在临床前模型上,小脑储备,CA的治疗管理,和合适的替代标记。我们使用与小脑疾病相关的关键词搜索了WebofScience和PubMed,治疗,和临床前模型。
    有许多症状和/或改变疾病的治疗方法正在研究中。对于治疗发展,临床前研究,疾病评估的标准化,安全评估,和临床改善的证明是必不可少的。疾病的阶段和小脑储备水平决定了治疗的目标。CA的多个类别和异质性的缺陷可能需要疾病-,stage-,和症状特异性疗法。需要更多的研究来阐明针对小脑的治疗如何影响基底神经节和大脑皮层,CA中探索不足的领域。
    Cerebellar ataxias (CAs) represent neurological disorders with multiple etiologies and a high phenotypic variability. Despite progress in the understanding of pathogenesis, few therapies are available so far. Closing the loop between preclinical studies and therapeutic trials is important, given the impact of CAs upon patients\' health and the roles of the cerebellum in multiple domains. Because of a rapid advance in research on CAs, it is necessary to summarize the main findings and discuss future directions.
    We focus our discussion on preclinical models, cerebellar reserve, the therapeutic management of CAs, and suitable surrogate markers. We searched Web of Science and PubMed using keywords relevant to cerebellar diseases, therapy, and preclinical models.
    There are many symptomatic and/or disease-modifying therapeutic approaches under investigation. For therapy development, preclinical studies, standardization of disease evaluation, safety assessment, and demonstration of clinical improvements are essential. Stage of the disease and the level of the cerebellar reserve determine the goals of the therapy. Deficits in multiple categories and heterogeneity of CAs may require disease-, stage-, and symptom-specific therapies. More research is needed to clarify how therapies targeting the cerebellum influence both basal ganglia and the cerebral cortex, poorly explored domains in CAs.
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