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1.
Patients with mechanic ankle instability experience increased tibiotalar and subtalar joint laxity. However, in vivo joint kinematics in functional ankle instability (FAI) patients and lateral ankle sprain (LAS) copers, especially during dynamic activities, are poorly understood. Ten FAI patients, 10 LAS copers, and 10 healthy controls were included in this study. A dual fluoroscopic imaging system was used to analyze the tibiotalar and subtalar joint kinematics during stair descent. Five key poses of stair descent were analyzed. Kinematic data from six degrees of freedom were calculated utilizing a solid modeling software. The range of motion and joint positions in each degree of freedom were compared among the three groups. The tibiotalar joints of FAI patients and LAS copers were significantly more inverted than those of healthy controls during the foot strike (p = 0.016, = 0.264). The subtalar joints of FAI patients were significantly more anteriorly translated (pose 2, p = 0.003, = 0.352; pose 3, p < 0.001, = 0.454; pose 4, p = 0.004, = 0.334), inverted (pose 4, p = 0.027, = 0.234; pose 5,p = 0.034, = 0.221), and externally rotated (pose 4, p = 0.037, = 0.217; pose 5; p = 0.004, = 0.331) than those of healthy controls during the mid‐stance and the heel off. The FAI patients showed excessive tibiotalar inversion and subtalar joint hypermobility during stair descent. Meanwhile, the LAS copers maintained subtalar joint stability, and only showed excessive tibiotalar inversion in foot strike. These data provide insight into the mechanisms behind the development of FAI after initial LAS. © 2019 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 37:1860–1867, 2019  相似文献   
2.

Background

Aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM #608643) is a rare and severe disorder of biogenic amine synthesis caused by mutations in the DDC gene. The phenomenology of the movement disorder includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired voluntary movement.

Objective

To identify clinical manifestations and DDC gene mutations in two Chinese mainland children who are siblings with AADC deficiency.

Methods

We used targeted next-generation sequencing and quantitative polymerase chain reaction (qPCR) to reveal DDC mutations in these children.

Results

Two DDC gene mutations were found: one missense mutation, c.1040G?>?A (p.Arg347Gln), is a reported mutation derived from the mother; the other mutation, a whole-exon 11 and 12 deletion, is a novel mutation derived from the father. The index patient and her brother both had poor sucking power and feeding difficulty at birth and episodes of oculogyric crises, truncal hypotonia, limb hypertonia, sleep disturbances, irritability, and motor delay. The siblings both died at 1?year and 10?months due to asphyxia and pneumonia during gaze and hypertonia episodes.

Conclusion

This study identified a novel DDC gene deletion mutation in two siblings with AADC deficiency disease in the Chinese mainland population.  相似文献   
3.
就β-胡萝卜素立体异构体对环磷酰胺处理小鼠的免疫功能影响进行了比较研究。结果显示β-胡萝卜素立体异构体对外磷酰胺造成的免疫功能低下具有不同程度的改善作用,提高胸腺和脾脏指数,增强脾脏细胞对刀豆素A(ConA)的反应性和NK活性,血清溶菌酶含量也有所增加。综合各项指标,9-顺式和全反式混合物的作用最明显,提示一定浓度的9-顺式对于提高β-胡萝卜素对机体的总体作用是有一定意义的。  相似文献   
4.
Two unique forms of cytochrome P-450 (P-450), designated NMa and NMb, were recently isolated in this laboratory from nasal microsomes of rabbits. In the present study, polyclonal antibodies to the purified nasal cytochromes were prepared. Immunochemical analysis with specific rabbit anti-NMa and sheep anti-NMb antibodies indicated that P-450 isozymes identical to or having a high structural homology with NMa are present in both olfactory and respiratory mucosa, as well as in liver, but NMb was detected only in the olfactory mucosa. Neither form was detected in other tissues examined, including brain, esophageal mucosa, heart, intestinal mucosa, kidney, and lung. The specific occurrence of NMb in the olfactory mucosa was further substantiated by the detection and specific inhibition by anti-NMb of the formation of unique NMb-dependent metabolites of testosterone in olfactory microsomes but not in microsomes from liver or respiratory mucosa. Similar experiments with antibodies to previously purified rabbit hepatic P-450 isozymes indicated that not all of the hepatic cytochromes are expressed in the nasal tissues. Thus, P-450 isozymes structurally homologous to hepatic forms 2, 3a, and 4, but not 3b and 6, were found in the olfactory mucosa. On the other hand, only form 2 was detected in the respiratory mucosa. Immunoquantitation experiments revealed that NMa and NMb are the major P-450 forms in olfactory microsomes, whereas NMa and P-450 form 2 (or its homolog) constitute the major portion of the respiratory nasal microsomal P-450. The level of NMa in the liver is relatively low, accounting for less than 3% of total microsomal P-450 in this tissue. In addition, evidence is provided that NMa is the major catalyst in the dealkylation of two nasal carcinogens, hexamethylphosphoramide and phenacetin, in both olfactory and respiratory nasal microsomes.  相似文献   
5.
目的:探讨EB病毒感染与人大肠癌发生的关系。方法:用原位分子杂交法对130例人大肠癌标本中EB病毒小分子RNA片段进行检测。结果:130例标本中有6例(4.48%)癌组织呈阳性反应,其中4例为男性,4例有明显淋巴细胞浸润。结论:EB病毒感染可能与我国部分大肠腺癌的发生有关,肿瘤细胞间质中大量淋巴细胞浸润可能是EB病毒感染的重要病理学特征。  相似文献   
6.
7.
目的 对比分析食管癌病例组与对照组血缘亲属食管癌患病风险,并了解食管癌家族中危险亲属人群患病的新线索.方法 采用病例对照研究方法 ,对食管癌病例组及对照组各720例进行逐层分析,以比较两组各血缘亲属父系、母系食管癌患病危险度(OR)的大小及差异.结果 (1)病例组Ⅰ级亲属食管癌患病危险度(1.34%~2.24%)显著高于对照组(0.78%~1.21%)(P<0.01);Ⅰ级亲属中病例组父母亲食管癌患病危险度为6.11%,显著高于对照组父母亲食管癌患病危险度2.97%(P<0O01).(2)以血缘亲属中父系和母系亲属逐层分析可见,病例组父系食管癌患病危险度(0.87%~1.01%)与母系患病危险度(0.50%~0.79%)均显著高于对照组父系食管癌患病危险度(0.53%~0.65%)与母系患病危险度(0.38%~0.47%)(P<0.05).进一步分析显示,病例组父系中男性亲属与母系中女性亲属,即父系中祖父、父亲、叔伯食管癌患病危险度为2.68%与母系中外祖母、母亲、姨的食管癌患病危险度1.91%均显著高于对照组父系中男性亲属食管癌患病危险度1.50%与母系中女性亲属食管癌患病危险度0.92%(P<0.01).结论 山西省食管癌患者血缘亲属发病危险主要是父亲及其兄弟、母亲及其姐妹,其下代患食管癌风险要大.  相似文献   
8.
高度近视的病因学研究进展   总被引:9,自引:0,他引:9  
贾丁  瞿佳 《眼视光学杂志》2003,5(2):123-125
高度近视发生的内因、外因,包括遗传倾向,相关基因定位,巩膜胶原白体免疫学说,视网膜生物活性物质失调学说,环境因素等,本研究就这些因素对高度近视发病的影响做一综述。现统一的认识有:①高度近视具有明显的遗传倾向。②迄今为止,已找到4个高度近视相关基因,它们的遗传方式均为常染色体显性遗传。③高度近视的巩膜组织病理改变和胶原代谢障碍引发了人们对高度近视免疫相关基因的深入研究。已发现HLAⅡ类基因与部分高度近视具有相关性。④视网膜中存在的生物活性物质直接或间接参与了形觉剥夺性近视的形成。⑤环境因素并非高度近视发病的决定因素,它仅起一定程度的促进作用。将今后的工作重点放在高度近视基因定位的研究,基因表达的调控及巩膜胶原代谢、网膜生物活性物质之间的关系研究上,无疑会进一步揭示高度近视的病因,为防治高度近视开辟新途径。  相似文献   
9.
OBJECTIVE: To compare postoperative maxillary stability following Le Fort I osteotomy for the correction of occlusal cant as compared with conventional Le Fort I osteotomy for maxillary advancement. STUDY DESIGN: The subjects were 40 Japanese adults with jaw deformities. Of these, 20 underwent a Le Fort I osteotomy and intraoral vertical ramus osteotomy (IVRO) to correct asymmetric skeletal morphology and inclined occlusal cant. The other 20 patients underwent a Le Fort I osteotomy and sagittal split ramus osteotomy (SSRO) to advance the maxilla. Lateral and posteroanterior cephalograms were taken postoperatively and assessed statistically. Thereafter, the 2 groups were followed for time-course changes. RESULTS: There was no significant difference between the 2 groups with regard to time-course changes during the immediate postoperative period. CONCLUSION: This suggests that maxillary stability after Le Fort I osteotomy for cant correction does not differ from that after Le Fort I osteotomy for maxillary advancement.  相似文献   
10.
后腹腔镜下离断式肾盂成形术   总被引:2,自引:0,他引:2  
目的探讨后腹腔镜下肾盂成形术的临床疗效. 方法腹腔镜下通过后腹腔途径对9例肾盂输尿管连接部狭窄行离断式肾盂成形术并对技术进行改进. 结果 9例手术均获成功,手术时间110~240 min,平均160 min.术中出血量30~80 ml,平均50 ml.术后住院8~18 d,平均11.2 d.术后并发症:皮下气肿(合并阴囊气肿)1例,漏尿2例.术后1~10个月B超示术侧肾盂无积水5例,轻度积水2例,中度积水2例.3例术后5个月IVU显示吻合口通畅. 结论后腹腔镜肾盂成形术微创、效果好,值得推广.  相似文献   
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