黄芩苷对局灶性脑缺血大鼠脑组织基因表达谱的影响

目的 :研究黄芩苷对局灶性脑缺血大鼠脑组织基因表达谱的影响 ,探索黄芩苷治疗脑缺血的药理作用机制。方法 :分别从假手术组、局灶性脑缺血组、黄芩苷治疗组SD大鼠的脑组织中抽提总RNA ,Cy3 ,Cy5荧光标记 ,反转录分别合成cDNA探针后 ,与含有 4096条大鼠基因的BioStar基因表达谱芯片杂交 ,AxonGenepix 40 0 0B扫描仪扫描 ,GenePixPro 3 .0软件分析表达信号。结果 :大鼠局灶性脑缺血组差异表达的基因有 211条 ,其中 12条基因上调 ,199条基因下调。黄芩苷治疗后差异表达的基因有 177条 ,其中有 89条基因上调 ,而 88条基因下调。进一步分析发现 ,1个在模型组下调的基因经黄芩苷治疗后上调 ,3个在模型组上调的基因经黄芩苷治疗后下调 ,3个在模型组上调的基因经黄芩苷治疗后表达进一步增强。结论 :在基因组水平上黄芩苷可能通过多基因 ,多途径调节大鼠脑缺血基因表达谱而发挥药理作用。     

Impairments of balance,stepping reactions and gait in people with cervical dystonia

BackgroundImpaired balance is common in neurological disorders. Cervical dystonia is a neurological movement disorder affecting the neck. The effect of this aberrant head posture on physical function is unknown.ObjectivesTo compare balance, mobility, gait and stepping reactions between ten people with cervical dystonia and ten control adults.MethodsSpatiotemporal gait parameters and walking speed were assessed using a computerised walkway. Step length and time, time in double support and gait variability were calculated, then normalised to gait speed. Centre of pressure path length was assessed with eyes open and eyes closed to calculate a Romberg Quotient. Simple and choice reaction times were measured using customised apparatus while mobility was assessed by the timed up and go. Cervical spine range of motion was measured using a head mounted goniometer. Self-reported scales included Falls Self Efficacy Scale and Dystonia Discomfort Scale.ResultsThere was a difference between groups for most outcome measures. The timed up-and-go and walking speed was slower (both P < 0.005) and the Romberg Quotient lower (P = 0.046) in cervical dystonia. People with cervical dystonia had lower falls self-efficacy (P = 0.0002). Reduced cervical range of motion was correlated with balance, stepping reaction time and mobility (all P < 0.05). Timed up and go was positively associated with stepping reaction time (P < 0.01). Dystonia discomfort did not impact function.ConclusionsPeople with cervical dystonia displayed deficits in balance, gait and stepping reactions, and expressed higher fear of falling. Studies to further elucidate functional limitations and their impact on activity and participation in daily life are required.     

Identification of Genetic Causes of Focal Segmental Glomerulosclerosis Increases With Proper Patient Selection

ObjectiveTo increase the likelihood of finding a causative genetic variant in patients with a focal segmental glomerulosclerosis (FSGS) lesion, clinical and histologic characteristics were analyzed.Patients and MethodsIndividuals 18 years and older with an FSGS lesion on kidney biopsy evaluated at Mayo Clinic from November 1, 1999, through October 31, 2019, were divided into 4 groups based on clinical and histologic characteristics: primary FSGS, secondary FSGS with known cause, secondary FSGS without known cause, and undetermined FSGS. A targeted gene panel and a customized gene panel retrieved from exome sequencing were performed.ResultsThe overall rate of detection of a monogenic cause was 42.9% (21/49). Individuals with undetermined FSGS had the highest rate of positivity (87.5%; 7/8) followed by secondary FSGS without an identifiable cause (61.5%; 8/13) and secondary FSGS with known cause (33.3%; 5/15). Four of 5 (80%) individuals in the latter group who had positive genetic testing results also had a family history of kidney disease. Univariate analysis showed that family history of kidney disease (odds ratio [OR], 13.8; 95% CI, 3.7 to 62.4; P<.001), absence of nephrotic syndrome (OR, 8.2; 95% CI, 1.9 to 58.1; P=.004), and female sex (OR, 5.1; 95% CI, 1.5 to 19.9; P=.01) were strong predictors of finding a causative genetic variant in the entire cohort. The most common variants were in the collagen genes (52.4%; 11/21), followed by the podocyte genes (38.1%; 8/21).ConclusionIn adults with FSGS lesions, proper selection of patients increases the rate of positive genetic testing significantly. The majority of individuals with undetermined FSGS in whom the clinical presentation and histologic parameters are discordant had a genetic diagnosis.     

基于MRI弥散成像的直方图纹理分析鉴别肝脏局灶性结节性增生和少脂型肝血管平滑肌脂肪瘤

肝局灶性结节性增生(focal nodular hyperplasia, FNH)是一种较少见的良性富血供肿瘤样病变，是肝细胞对局部血管异常产生的一种反应性增生，而非真正意义上的肿瘤[1]。肝脏血管平滑肌脂肪瘤是肝脏内少见的肿瘤，由增生的厚壁血管、平滑肌及成熟的脂肪组织构成，且3种成分构成比例、分布各不相同，且具有潜在的恶性转化和自发破裂的危险，应该积极手术治疗[2]。肝脏血管平滑肌脂肪瘤可分为4 种类型：脂瘤型（脂肪含量≥ 70%）、肌样型（脂肪含量≤ 10%，上皮样型及梭形细胞型）、血管型（以多发粗大、扭曲的畸形血管为主）及混合型（3 种组成成分比例相近）[3]。肌样型及血管型是含微量成熟脂肪的少脂型血管平滑肌脂肪瘤（Low-fat hepatic angiomyolipoma,LF-HAML)，与肝癌、肝腺瘤及FNH等肝脏富血供病变鉴别困难，术前FNH和LF-HAML在临床和影像表现存在较多的重叠[4]，目前国内外对此研究较少，因此准确诊断并鉴别对确定治疗方案和改善患者预后至关重要, 纹理分析是影像组学研究的基础，在肿瘤病灶提取、定性、疗效评估及预后预测方面具有较高的价值[5-6]。笔者旨在探讨基于直方图的MRI-DWI纹理特征方法鉴别两种病变的价值。     

Development of an intraoral device for social inclusion of a physically disabled patient

The aim of this study is to describe the use of an intraoral assistive technology for a patient with idiopathic generalized muscular dystonia, presenting temporomandibular disorder and severe anterior tooth mobility and diastema. A multidisciplinary team developed an intraoral device to provide typing and painting functions, and promote relaxation of masticatory muscles without compromising the teeth and supporting tissue structures. The occlusal splint associated with the device promoted muscle relaxation and relief of the signs and symptoms of temporomandibular dysfunction, in this case with generalized muscle dystonia, allowing typing and painting with her mouth without causing tooth mobility or occlusal alteration. This intraoral device has low cost, easy adaptation and was efficient in TMD symptoms. Furthermore, the patient returned to her rehabilitation allowing performance of her duties without compromising dental structures, facilitating the social and the digital inclusion.     

Application of artificial intelligence using a novel EUS-based convolutional neural network model to identify and distinguish benign and malignant hepatic masses

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