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【摘要】 报道临床症状不典型的家族性黑棘皮病1家系。先证者女,4岁,自1周岁时,颈部、腹部出现黑色斑片,近年来逐渐扩大至唇周、躯干前部。腹部皮肤全反式共聚焦显微镜检查可见乳头环下延扭曲及沟壑结构,乳头环内可见中高折光颗粒结构。先证者父亲及祖母既往有类似病史,但随着年龄增长色素沉着自发性消退,仅有局部皮纹增粗。采集先证者及父母、祖母外周血,对先证者外周血DNA行Panel靶向测序,结果显示,先证者存在FGFR3基因14号外显子c.1949A>C(p.Lys650Thr)错义突变,Sanger测序验证证实先证者及其父亲和祖母均存在此突变。诊断:家族性黑棘皮病。 相似文献
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Keyang Qian Hanqing Qian Juan Cai Wuheng Yue Xiaoxiao Yu Baorui Liu 《Pathology, research and practice》2019,215(4):755-760
Gastric cancer, one of the most common disease, has become a major public health problem worldwide. Cisplatin (DDP) has been a widely used drug for the treatment of cancer, also usually applied in gastric cancer in clinic. However, the side effects including toxicity and drug-resistance restricted the usage of DDP in clinic, so we prepared a DDP-complexed hydrogel (DDP-Gel) and investigated its efficacy in gastric cancer. For in vivo studies, MKN45-Luc cells were injected into BLAB/C node mice subcutaneously to establish gastric cancer with orthotopically grown tumors. Mice bearing tumors were treated with normal saline, DDP and DDP-Gel. Body weight and survival condition were observed and recorded. The treatment efficacy in vivo was detected by luciferase imaging and histological evaluation was performed by H&E staining of different organs. Additionally, normal ICR mice were treated with different doses of DDP/DDP-Gel to calculate their LD50 in vivo. The results showed that DDP-Gel prolonged survival time and ameliorated body weight changes of mice bearing tumors. DDP-Gel exhibited higher efficacy to inhibit tumor growth and metastasis, compared to DDP. Besides, LD50 of DDP-Gel was 166.0?mg/kg, 13.2 folds higher than DDP. As a conclusion, DDP-Gel showed a more effective and safer function than DDP in gastric cancer, which indicating that DDP-Gel might be a novel strategy for gastric cancer therapy. 相似文献
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目的采用图像融合技术获得T2WI与T2WI-FS的融合图像,评估其在肛瘘及肛周结构显示中的优势。
方法2016年6月至2018年6月,前瞻性选择中山大学附属第一医院29例肛瘘患者进行肛管磁共振(MR)检查,采用图像融合技术获取T2WI与T2WI-FS的融合图像T2WI-Fusion,利用Fisher score算法计算瘘管及肛门括约肌的组织间分辨力Fisher值、脂肪与肛门括约肌间的Fisher值,评估融合图像中瘘管及肛周结构的显示情况。采用改进的双刺激连续质量量表(DSCQS)对T2WI-FS、T2WI、增强3D-VIBE和T2WI-Fusion序列图像进行主观图像质量评价。
结果29例患者均成功获得T2WI与T2WI-FS的融合图像T2WI-Fusion。T2WI-Fusion、T2WI瘘管与括约肌间Fisher均值分别为6.46、3.31,T2WI-Fusion图像对瘘管的显示优于T2WI序列图像(P<0.001)。T2WI-Fusion、T2WI-FS脂肪与括约肌间Fisher均值分别为10.61、2.45,T2WI-Fusion图像对括约肌的显示优于T2WI-FS序列图像(P<0.001)。T2WI-Fusion对瘘管与括约肌的图像质量评价总评分均高于T2WI-FS、T2WI、增强3D-VIBE序列(P<0.001)。
结论MRI图像融合技术同时具备T2WI及T2WI-FS的优势,无需增加扫描序列及扫描时间,且操作简单,花费时间短,显著提高病变及肛周解剖结构的对比度和图像质量。 相似文献
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Yi Li Ying Chen Xiang Li Jian Wu Jing-Ying Pan Ri-Xin Cai Ri-Yun Yang Xiao-Dong Wang 《中国神经再生研究》2019,(9)
In the search for a therapeutic schedule for spinal cord injury, it is necessary to understand key genes and their corresponding regulatory networks involved in the spinal cord injury process. However, ad hoc selection and analysis of one or two genes cannot fully reveal the complex molecular biological mechanisms of spinal cord injury. The emergence of second-generation sequencing technology(RNA sequencing) has provided a better method. In this study, RNA sequencing technology was used to analyze differentially expressed genes at different time points after spinal cord injury in rat models established by contusion of the eighth thoracic segment. The numbers of genes that changed significantly were 944, 1362 and 1421 at 1, 4 and 7 days after spinal cord injury respectively. After gene ontology analysis and temporal expression analysis of the differentially expressed genes, C5ar1, Socs3 and CCL6 genes were then selected and identified by real-time polymerase chain reaction and western blot assay. The mRNA expression trends of C5ar1, Socs3 and CCL6 genes were consistent with the RNA sequencing results. Further verification and analysis of C5ar1 indicate that the level of protein expression of C5ar1 was consistent with its nucleic acid level after spinal cord injury. C5ar1 was mainly expressed in neurons and astrocytes. Finally, the gene Itgb2,which may be related to C5ar1, was found by Chilibot database and literature search. Immunofluorescence histochemical results showed that the expression of Itgb2 was highly consistent with that of C5ar1. Itgb2 was expressed in astrocytes. RNA sequencing technology can screen differentially expressed genes at different time points after spinal cord injury. Through analysis and verification, genes strongly associated with spinal cord injury can be screened. This can provide experimental data for further determining the molecular mechanism of spinal cord injury, and also provide possible targets for the treatment of spinal cord injury. This study was approved ethically by the Laboratory Animal Ethics Committee of Jiangsu Province, China(approval No. 2018-0306-001) on March 6, 2018. 相似文献