Degradation and resynthesis of cyclic 3', 5' -guanosine monophosphate in truncated rod photoreceptors from bovine retina

Truncated rod photoreceptors containing outer segments with inner segment attachments were prepared from bovine retinas. In the absence of a high-energy donor, the preparation transformed cyclic GMP to 5′-GMP, guanosine and a small amount of cyclic XMP. In the presence of ATP. the preparation formed GDP and GTP from 5′-GMP, and GTP endogenously formed was converted to cyclic GMP. Conditions for optimal activity of the above reactions were defined and a rank ordering of the specific activities of the reactions established. The specific activity of each enzyme was greater in truncated photoreceptors than in homogenates of retina. The efficiency of the metabolic cycle to resynthesize cyclic GMP from 5′-GMP in vivo probably depends upon the energy state of the visual cell and upon the degree of compartmentation of substrates within the inner and outer segment of the photoreceptor.     

哈氏棒联合CD钩矫正脊柱侧凸的临床应用(附50例临床分析)

目的　总结哈氏棒联合CD钩治疗脊柱侧凸的手术技术及临床疗效。方法　脊柱侧凸患者 5 0例 ,术前Cobb角平均 6 0 .7°,采用哈氏棒联合CD钩 (简称HCD)治疗 ,术后随访 8～ 6 5个月。结果　术后Cobb角平均 2 5 .8°,平均矫正率5 7.3% ,3例发生断棒 ,无其它并发症发生。90 %的患者对手术效果表示满意或基本满意。结论　HCD系统操作简便 ,固定可靠 ,并发症少 ,疗效满意 ,是一种很实用的脊柱侧凸矫正方法     

Immunohistochemical localization of protein kinase C (PKC) beta I in the pig retina during postnatal development

In order to investigate the expression of protein kinase C (PKC) beta I in the retinas of pigs during postnatal development, we analyzed retinas sampled from 3-day-old and 6-month-old pigs by Western blotting and immunohistochemistry. Western blot analysis detected the expression of PKC beta I in the retinas of 3-day-old piglets and it was increased significantly in the retinas of 6-month-old adult pigs. Immunohistochemical staining showed PKC beta I in the retinas of both groups. Immunohistochemistry of 3-day-old retinas revealed weak PKC beta I reactivity in the ganglion cell layer, inner plexiform layer, inner nuclear cell layer, outer plexiform layer and rod and cone cell layer. In the 6-month-old pig retina, the cellular localization of PKC beta I immunostaining was similar to that of the 3-day-old retina, where PKC beta I was localized in some glial fibrillary acidic protein-positive cells, glutamine synthetase-positive cells, parvalbumin-positive cells, and PKC alpha-positive cells in the retina. This is the first study to show the expression and cellular localization of PKC beta I in the retina of pigs with development, and these results suggest that PKC beta I, in accordance with PKC alpha, plays important roles in signal transduction pathways in the pig retina with development.     

可吸收固定棒结合环扎加钢丝内固定治疗髌骨粉碎性骨折

2007年9月-2010年8月,我们采用聚左旋乳酸可吸收固定棒结合抗米微侨可吸收线环扎加＂8＂字钢丝内固定治疗43例髌骨粉碎性骨折,疗效满意。     

钉棒复位椎间融合器固定治疗腰椎滑脱的临床疗效观察

目的:观察钉棒复位椎间融合器固定治疗腰椎滑脱的临床疗效。方法:对我院2006年3月～2010年2月收治的76例腰椎滑脱患者的临床资料进行回顾性分析,76例患者采用钉棒复位椎间融合器固定进行治疗,比较手术前、后及随访结束时Taillard指数、疼痛评分(VAS)、腰功能评分(LBOS)、腰椎前凸度及椎间隙高度指数,观察术后并发症情况。结果:术后随访12～18个月,本组患者优56例,良14例,可6例,优良率为92.1%;术后仅发生硬脊膜损伤、脑脊液漏1例;术后Taillard指数、VAS、LBOS、腰椎前凸度及椎间隙高度指数与术前比较差异均有统计学意义(P均<0.01),随访结束后VAS较术后有明显改善,差异有统计学意义(P<0.05)。结论:钉棒复位椎间融合器固定治疗腰椎滑脱具有疗效好、并发症少、术后恢复快等优点,值得临床推广应用。     

Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation

Purpose: To describe in detail the phenotype of CORD5 in two families segregating a mutation c.1878G>C (p.Q626H) in the PITPNM3 gene. Methods: The study included 35 individuals from two different families of Swedish origin, all heterozygous for a PITPNM3 p.Q626H mutation. All participants underwent ophthalmological examination including kinetic perimetry, and in selected cases adaptometry, colour vision tests and optical coherence tomography (OCT). Electrophysiological studies were also performed. In some cases, the data were obtained from medical records. Results: The majority of patients showed subnormal visual acuity and light sensitivity from childhood. Early signs of macular degeneration were also observed. There was a progressive decrease in visual acuity leading to legal blindness in early adulthood. Electrophysiological testing showed a progressive loss of photoreceptor function restricted mainly to the cones. OCT revealed decreased macular thickness with flattened and enlarged fovea. Conclusion: Our observations of the PITPNM3 p.Q626H mutation carriers confirm that CORD5 is a disease not to mix with other retinal degenerations mapped to 17p13. The results of our clinical evaluation so far indicate that CORD5 is characterized by predominant cone dysfunction without signs of general involvement of the retinal pigment epithelium. The rod system also seems to be unaffected. In this sense, CORD5 is different from other autosomal dominant CORDs where rod involvement is present to some degree in a late phase of the disease. Some intra‐ and inter‐familial differences regarding the severity of the clinical picture were observed.     

Intranuclear nemaline rod myopathy

The clinical, pathologic, and genetic findings of a boy with intranuclear nemaline rod myopathy are described. Serial muscle biopsies revealed myocyte nuclei containing inclusions that were immunoreactive for alpha-actinin and increased with age. Genetic analysis revealed a Val163Leu ACTA1 mutation previously associated with nemaline rod myopathy. Although initially delayed, he has reached all milestones and remains stable. These findings suggest intranuclear rods may increase with time and do not necessarily imply a poor prognosis.     

多孔钽棒支撑植入术治疗早期股骨头坏死

目的:总结多孔钽棒支撑植入在成人早期股骨头坏死治疗中的早期临床疗效。方法:2008年1月～2011年12月我院收治的成人股骨头缺血坏死早期患者(均为FicatⅠ、Ⅱ期)15例(18髋),男10例12髋,女5例6髋,26～55岁,平均38.6岁。均采用多孔钽棒支撑植入治疗。观察手术操作过程、及术后早期恢复情况,并在术前术后进行Harris评分。结果:所有患者均获得随访8～32个月,平均18个月,患者术后疼痛及功能受限症状均明显缓解。至末次随访,术后6个月及术后1年Harris评分较术前均有不同程度的增加。统计结果显示差异均有统计学意义。讨论:多孔钽棒具有良好的生物相容性,手术操作简单、微创,对股骨头及软骨下骨板可提供安全、有效的力学支撑,多孔钽棒支撑植入术方法治疗股骨头坏死可明显改善Harris评分。早期的临床效果令人满意。     

LISS接骨板联合髓内针治疗Ⅱ型浮膝损伤19例疗效分析

目的探讨提高治疗Ⅱ型浮膝损伤的手术治疗效果。方法对我科2007年8月至2011年9月收治的19例Ⅱ型浮膝损伤患者应用髓内针、LISS接骨板治疗,并进行随访分析。按Frase等分型,ⅡA型11例,ⅡB型7例。结果经过8~20个月随访,平均14个月,骨折愈合时间为12~19周,平均15.3周。治疗结果按Karlstrom等制定的浮膝损伤肢体功能评分标准。优,13例,良,4例,中,2例,优良率89.5%。结论应用LISS接骨板联合髓内针治疗Ⅱ型浮膝损伤具有创伤小、固定强度可靠、功能恢复快、骨折不愈合率低、骨折并发症少的优点。     

Achromatopsia: case presentation and literature review emphasising the value of spectral domain optical coherence tomography

A literature review and case presentation are used to discuss the diagnostic value of spectral domain optical coherence tomography (SD‐OCT) in the assessment and management of congenital achromatopsia. A 24‐year‐old Hispanic man presented to the clinic with a longstanding history of decreased vision and associated possible recent progression. A comprehensive eye examination and a battery of tests including SD‐OCT, fundus photography, electroretinogram (ERG) and Farnsworth D‐15 were completed. SD‐OCT and photopic ERG confirmed the clinical diagnosis of congenital achromatopsia. There was the classic subfoveal flattened hyporeflective ‘punched out’ zone, resulting from an absence of inner segment/outer segment junction. SD‐OCT findings associated with congenital achromatopsia have been documented recently, helping in the diagnosis of the condition. The SD‐OCT findings have further expanded our knowledge of congenital achromatopsia, while also aiding in the management of the disease.