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101.
原发性肉碱缺乏致脂质沉积性肌病的临床与病理特点 总被引:1,自引:0,他引:1
目的 分析原发性肉碱缺乏致脂质沉积性肌病(LSM)的临床与病理特点。方法 回顾性分析4例可能LSM患者的临床资料。结果 本组患者为亚急性或慢性起病,主要表现为近端肌无力,疲劳不能耐受;血清肌酶有不同程度的升高;肌电图示肌源性损害;病理检查示肌纤维内可见大量细小空泡和裂隙形成;MGT染色无破碎红纤维,油红O染色显示空泡为大量脂滴充填;受累纤维以Ⅰ型纤维为主。电镜证实肌纤维内脂滴堆积,可伴有线粒体的轻度增多。改善能量和糖皮质激素治疗有效。结论原发性肉碱缺乏致LSM是一种以易疲劳和肌无力为主要临床表现的脂质代谢障碍性肌病,病理改变以肌纤维内脂滴堆积为主,一般不伴有线粒体结构的明显异常。糖皮质激素治疗可获得良好疗效。 相似文献
102.
目的研究1个以光敏性癫痫为主要表现的肌阵挛性癫痫伴肌肉破碎红纤维综合征(MERRF)家系的临床特点、遗传学特征。方法整理一个以光敏性癫痫为主要表现的肌阵挛性癫痫伴肌肉破碎红纤维综合征家系的临床表现、辅助检查及影像学资料,分析其临床特点和遗传特征。结果该家系呈母系遗传,共4人(包括先证者3个同辈,1个子代)出现肌阵挛表现,先证者以光敏性癫痫为主要表现,其肌肉活检可见典型的破碎红纤维(RRF),先证者的线粒体DNA提示8344位点由A突变为G。结论 MERRF家系少见,可以光敏性肌阵挛癫痫为主要表现。 相似文献
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Ageing appearance in China: biophysical profile of facial skin and its relationship to perceived age
AE Mayes PG Murray DA Gunn CC Tomlin SD Catt YB Wen LP Zhou HQ Wang M Catt SP Granger 《Journal of the European Academy of Dermatology and Venereology》2010,24(3):341-348
Background Perceived age is important to women and is a primary driver for topical product use and facial cosmetic surgery. Changes in facial features and biophysical skin parameters with chronological age and their associations with perceived age have not been described in Asian populations. Objective To investigate the relationship between biophysical properties of the skin, visual features of skin ageing and perceived facial age in Chinese women. Methods Facial photographs were collected of 250 Chinese women, aged 25–70 years in Shanghai, China. The perceived facial age was determined and related to the chronological age for each participant and to a range of visual assessments of skin appearance and objective biophysical measurements of the skin. The profile of changes in these parameters with age was investigated together with the differences in those parameters for women judged to look younger than their chronological age and those judged to look older than their chronological age. Results Large discrepancies in perceived age (up to 29 years) were found in women of the same chronological age. Each objective skin measure and visual assessment parameter had a stronger correlation with perceived age than with chronological age. The strongest relationships to perceived age were for wrinkles and hyperpigmentation. Skin colour, hydration and trans‐epidermal water loss (TEWL) had weaker associations with perceived age. Women judged to look older than their chronological age had significantly higher scores than those judged to look younger for coarse wrinkles and hyperpigmentation across all age groups. The appearance differences between these groups were evident in composite facial images of the same average chronological age. Conclusions We have identified the skin attributes which differ with perceived age in Chinese women. Perceived age is a better measure of the biological age of facial skin than is chronological age in this population. 相似文献
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108.
CRISTIANE MARIA DA COSTA‐SILVA FABIANO JEREMIAS JULIANA FELTRIN
De SOUZA RITA
De CÁSSIA LOIOLA CORDEIRO LOURDES SANTOS‐PINTO ANGELA CRISTINA CILENSE ZUANON 《International journal of paediatric dentistry / the British Paedodontic Society [and] the International Association of Dentistry for Children》2010,20(6):426-434
International Journal of Paediatric Dentistry 2010; 20: 426–434 Background. The prevalence of molar incisor hypomineralization (MIH) varies considerably around the world; however, few studies have examined MIH in South American countries. Objective. To evaluate the prevalence, severity, and clinical consequences of MIH in Brazilian children residing in rural and urban areas of the municipality of Botelhos, Minas Gerais, Brazil. Methods. Children aged 6 to 12 years (n = 918) with all four‐first permanent molars erupted had these teeth evaluated according to the European Academy of Paediatric Dentistry (EAPD) criteria. The examinations were conducted by two previously trained examiners, and the dental impact caused by MIH was evaluated with the Decayed, Missing and Filled Teeth (DMFT) index (WHO). Results. Molar incisor hypomineralization was present in 19.8% of the 918 children, with a higher prevalence in rural areas. The majority of the defects presented were demarcated opacities without post‐eruptive structural loss, which has been considered as mild defects. Children with MIH had higher DMFT values. Conclusion. Despite the high prevalence of MIH, the severity of the defects was mild. The results indicate a positive association between MIH and the presence of dental caries. 相似文献
109.
目的:观察槲皮素(quercetin)体外对肝癌SMMC-7721细胞的生长抑制和诱导凋亡作用,并探讨线粒体在诱导凋亡机制中的作用。方法:以10、30、60和100μmol/L槲皮素作用于体外培养的SMMC-7721细胞,MTT法检测细胞生长抑制率;Annexi-V/PI双染流式细胞仪检测细胞凋亡情况;吖啶橙(acridine or-ange,AO)染色法观察细胞凋亡时形态变化;JC-1染色法检测细胞线粒体膜电位(mitochondrial membrane potential)变化。结果:槲皮素体外能抑制肝癌SMMC-7721细胞的生长(P<0.01),诱导细胞发生凋亡,并呈现量效和时效关系。10、30、60和100μmol/L槲皮素作用72h引起的细胞抑制率(F=343.71,P<0.01)和凋亡率(F=234.17,P<0.01)明显高于对照组。槲皮素作用48h后,AO染色图片可见细胞膜呈泡状膨出和凋亡小体等。凋亡过程中线粒体膜电位下降。结论:槲皮素体外能抑制肝癌SMMC-7721细胞生长,诱导细胞凋亡发生,线粒体膜电位下降在细胞凋亡过程中可能起到重要作用。 相似文献
110.
Peripheral nerve disorders may be classified into compressive or entrapment neuropathies and non‐compressive neuropathies. Muscle denervation recognized on MRI may be a useful sign in the diagnosis of peripheral nerve disorders. Acute or subacute denervation results in prolonged T2 relaxation time, producing increased signal in skeletal muscle on short tau inversion‐recovery and fat‐suppressed T2‐weighted images. Chronic denervation produces fatty atrophy of skeletal muscles, resulting in increased muscle signal on T1‐weighted images. This review will outline and illustrate the various ways that muscle denervation as seen on MRI may assist in the diagnosis and localization of peripheral nerve disorders. 相似文献