结节性硬化症相关癫痫的临床特征及治疗进展

结节性硬化症(tuberous sclerosis complex,TSC)是一种常染色体显性遗传的神经皮肤综合征,致病基因TSC1、TSC2分别位于常染色体9q34、16p13.3的抑癌基因[1-2] 。TSC1、TSC2基因突变引起哺乳动物雷帕霉素靶蛋白(mTOR)信号通路异常激活,可在脑、皮肤、肾脏、心脏、肝脏、肺等多器官形成良性错构瘤。TSC人群患病率为1/6 000,约70%患者为散发[3]。1908 年德国神经病学家Heinrich Vogt总结TSC典型三联征,即面部血管纤维瘤、癫痫发作和智力减退。癫痫发作是TSC的常见临床症状,严重影响患者生活质量。本文旨在对TSC患者癫痫发作的临床特征及治疗进展进行综述,以期能更 好了解TSC伴癫痫发作的特点并为临床治疗提供参考。     

Understanding how axial loads on the spine influence segmental biomechanics for idiopathic scoliosis patients: A magnetic resonance imaging study

BackgroundSegmental biomechanics of the scoliotic spine are important since the overall spinal deformity is comprised of the cumulative coronal and axial rotations of individual joints. This study investigates the coronal plane segmental biomechanics for adolescent idiopathic scoliosis patients in response to physiologically relevant axial compression.MethodsIndividual spinal joint compliance in the coronal plane was measured for a series of 15 idiopathic scoliosis patients using axially loaded magnetic resonance imaging. Each patient was first imaged in the supine position with no axial load, and then again following application of an axial compressive load. Coronal plane disc wedge angles in the unloaded and loaded configurations were measured. Joint moments exerted by the axial compressive load were used to derive estimates of individual joint compliance.FindingsThe mean standing major Cobb angle for this patient series was 46°. Mean intra-observer measurement error for endplate inclination was 1.6°. Following loading, initially highly wedged discs demonstrated a smaller change in wedge angle, than less wedged discs for certain spinal levels (+ 2,+1,− 2 relative to the apex, (p < 0.05)). Highly wedged discs were observed near the apex of the curve, which corresponded to lower joint compliance in the apical region.InterpretationWhile individual patients exhibit substantial variability in disc wedge angles and joint compliance, overall there is a pattern of increased disc wedging near the curve apex, and reduced joint compliance in this region. Approaches such as this can provide valuable biomechanical data on in vivo spinal biomechanics of the scoliotic spine, for analysis of deformity progression and surgical planning.     

A microwell pattern for C17.2 cell aggregate formation with concave cylindrical surface induced cell peeling

We have developed a polydimethylsiloxane (PDMS) pattern with arrays of microwells for the formation of multicellular aggregates by C17.2 neural stem cells. Upon interfacing with the patterns, the neural stem cells would firstly attach to the microwell sidewalls, forming cellular strips on day 1 after plating. For channel connected microwells, cellular strips on the concave semi-cylindrical sidewall surfaces continued among wells and through channels, followed by strip peeling due to prestress arising from actin filaments and assembly of suspending cellular aggregates within the microwells in the following 1–2 days. Our results also suggested that a small microwell diameter of 80 and 100 μm and a narrow channel width of 20 μm would facilitate the aggregate formation among the structural dimensions tested. Finite element method (FEM) simulation revealed that cellular strips on the semi-cylindrical sidewall surfaces peeled under significantly smaller prestresses (critical peeling prestress, CPP), than cells on flat substrates. However, the CPP by itself failed to fully account for the difference in aggregate inducing capability among the patterns addressed, suggesting cell growth behaviors might play a role. This study thus justified the current patterning method as a unique and practical approach for establishing 3D neural stem cell-based assay platforms.     

Effect of subcutaneous depo-medroxyprogesterone acetate (DMPA-SC) on serum androgen markers in normal-weight,obese, and extremely obese women

BackgroundThe effects of subcutaneous depo-medroxyprogesterone acetate (DMPA-SC) injection on androgenic markers in obese women have not previously been studied.Study DesignFive normal-weight [body mass index (BMI)=18.5–24.9 kg/m²], five obese (BMI=30–39.9 kg/m²) and five extremely obese (BMI≥40 kg/m²) women were recruited for this prospective experimental study in which 104 mg DMPA-SC was administered at baseline and 12 weeks later. Serum levels of total testosterone (T), androstenedione (A), dehydroepiandrosterone sulfate (DHEAS), 3α-androstanediol glucuronide and sex hormone-binding globulin (SHBG) were quantified by immunoassay methods at baseline and at 13 and 26 weeks following the first injection; free T was calculated.ResultsAt baseline, obese women had lower levels of A and SHBG and higher total and free T levels than normal-weight women. There were a statistically significant decrease in the levels from baseline to week 26 among all three BMI classes for A, total T and SHBG (p≤.03) and an increase from baseline to week 26 in weight (p=.02). In addition, there was a statistically significant decrease in DHEAS from baseline to week 13 among all three BMI classes (p=.01), which was not sustained at week 26 (p>.1). Overall, the three groups responded similarly to all changes at week 13, and there were no statistically significant differences between groups at any time point (p≥.06).ConclusionDMPA-SC use in normal-weight, obese and extremely obese women can decrease serum androgen markers.     

Moderate lead exposure and elementary school end-of-grade examination performance

PurposeThis study investigated the association between moderate lead poisoning in early childhood with performance on a comprehensive set of end-of-grade examinations at the elementary school level in two urban school districts.MethodsChildren born between 1996 and 2000 who resided in Milwaukee or Racine, WI, with a record of a blood lead test before the age of 3 years were considered for the analysis. Children were defined as exposed (blood lead level ≥10 and <20 μg/dL) or not exposed (BLL < 5 μg/dL). Parents of eligible children were mailed surveys to consent to participation and elicit information on potential confounders. On consent, children were matched to educational records for fourth grade Wisconsin Knowledge and Concepts Examinations. Seemingly unrelated regression was used to evaluate the relation between scaled scores on all sections of the examination (math, reading, language arts, science, and social studies) with exposure status, controlling for demographics, social status indicators, health indicators, and district-based poverty indicators.ResultsA total of 1133 families responded to the survey and consented to have educational records released; 43% of children were considered exposed. After controlling for demographic and socioeconomic covariates, lead exposure was associated with significantly lower scores in all sections of the Wisconsin Knowledge and Concepts Examinations (range: science, β = ?5.21, P = .01; reading, β = ?8.91, P = .003). Children who were black, had a parent with less than a high-school education, and were classified by parents as having less than excellent health had significantly lower performance on all examination components.ConclusionsChildren with moderate lead poisoning in early childhood performed significantly lower on all components of elementary school end-of-grade examinations compared with unexposed children. Household level social status and childhood health indicators partially explain decreased examination scores.     

对某高校教师高尿酸血症与代谢综合征组分关系的调查分析

目的分析高校教师高尿酸血症(HUA)与代谢综合征(MS)各组分的关系,为合理制订干预措施提供依据。方法通过整群抽样,对该校1604名25～85岁教师人群进行调查和体检。结果(1)男性HUA患病率明显高于女性;(2)HUA组MS各组分检出率明显高于非HUA组;(3)随代谢异常的集聚程度加重,HUA患病率增加。结论HUA与MS各组分之间关系密切,应在干预MS各组分的同时,加强对HUA的控制,提高防治心脑血管疾病的能力。     

基于正交双偏振光的无创血糖检测方法及初步实验研究

针对光电外差探测法和直接探测法偏振光无创血糖检测方法存在的缺点,本文提出了一种新的正交双偏振光无创血糖检测方法,将正交双偏振光通过血糖引起的微小偏振角的变化转化为两个方向上偏振光的能量差,由相关原理高灵敏锁相放大器检测,控制法拉第线圈电流补偿血糖引起的偏转角变化,利用血糖浓度与法拉第线圈电流的线性关系,计算获得血糖浓度。以LX-20全自动生化分析仪测得的数据作为标准进行对比实验,葡萄糖溶液实验的相关系数为0.9777,血清实验的相关系数为0.952。研究表明本方法具有较高的检测灵敏度和准确度,为研制实用的新型无创血糖检测仪打下了基础。     

Diagnostic and Prognostic Blood Biomarkers in Transient Ischemic Attack and Minor Ischemic Stroke: An Up-To-Date Narrative Review

IntroductionEarly diagnosis and correct risk stratification in patients with transient ischemic attack (TIA) and minor ischemic stroke (MIS) is crucial for the high rate of subsequent disabling stroke. Although highly improved, diagnosis and prognostication of TIA/MIS patients remain still based on clinical and neuroimaging findings, with some inter-rater variability even among trained neurologists.ObjectivesTo provide an up-to-date overview of diagnostic and prognostic blood biomarkers in TIA and MIS patients.Material and methodsWe performed a bibliographic search on PubMed database with last access on July 10^th 2021. More than 680 articles were screened and we finally included only primary studies on blood biomarkers.ResultsIn a narrative fashion, we discussed about blood biomarkers investigated in TIA/MIS patients, including inflammatory, thrombosis, neuronal injury and cardiac analytes, antibodies and microRNAs. Other soluble molecules have been demonstrated to predict the risk of recurrent cerebrovascular events or treatment response in these patients. A rapid point of care assay, combining the determination of different biomarkers, has been developed to improve triage recognition of acute cerebrovascular accidents.ConclusionsThe implementation of blood biomarkers in the clinical management of TIA/MIS could ameliorate urgent identification, risk stratification and individual treatment choice. Large prospective and longitudinal studies, adopting standardized sampling and analytic procedures, are needed to clarify blood biomarkers kinetic and their relationship with TIA and minor stroke etiology.