Arthrogryposis,renal dysfunction and cholestasis syndrome: Report of five patients from three Italian families

We report on five patients from three families with neurogenic arthrogryposis, cholestasis and tubular renal dysfunction. Despite a similar clinical picture the liver histology showed a broad pathological spectrum, ranging from pigment storage to parenchymal giant cell transformation and ductopenia. The findings are compared with those of other cases from the literature in search of a correct nosology of the syndrome characterized by arthrogryposis, renal and liver disease.Conclusion We propose to consider the picture of arthrogryposis, renal tubular dysfunction and cholestasis as a single syndrome.     

针药结合治疗缺血性中风后抑郁症45例临床观察

目的:观察针药结合治疗缺血性中风后抑郁症的临床疗效。方法:将90例缺血性中风后抑郁症患者随机单盲分为治疗组和对照组,以临床疗效、汉密顿抑郁量表(HAMD)和抑郁自评表(SDS)积分法等为观察指标。结果:治疗组的临床症状、两种抑郁量表相关指标均得到改善,与对照组比较差异有统计学意义(P<0.01)。结论:针药结合治疗缺血性中风后抑郁症有较好的临床疗效。     

Visual dysfunction in patients with mitochondrial myopathies

Seventeen patients with biopsy-confirmed mitochondrial progressive external ophthalmoplegia underwent electroretinography and visual evoked potential testing to checkerboard-reversal stimuli to investigate subclinical visual dysfunction. Seven patients (41%) had impaired Snellen visual acuity that was never less than 0.6. Thirteen patients (76%) showed electroretinographic and/or visual evoked potential alterations, whereas six (35%) showed impairment on both tests. Two patients showed delayed VEP P100 latency without fundus, electroretinographic or visual acuity anomalies. Visual dysfunctions were not related to age at onset and course of the disease.Abbreviations PEO progressive external ophthalmoplegia     

视网膜色素变性临床治疗体会

目的探讨视网膜色素变性的临床治疗体会。方法选取我院在2007年5月至2011年8月间收治的80例视网膜色素变性患者,将80例患者随机分为两组,观察组41例,对照组39例,观察组患者采用中西医结合法进行治疗,对照组患者采用单纯的西医治疗。对两组患者的治疗结果进行观察,并记录所得数据。结果经过治疗,观察组41例患者中,基本治愈23例,显效10例,有效4例,无效4例,有效率为90.2%,对照组39例患者中,基本治愈17例,显效9例,有效3例,无效10例,有效率为74.4%。结论在治疗视网膜色素变形疾病的过程中,采用中西医联合治疗的效果较为显著,值得在临床推广应用。     

Q开关Nd:YAG激光和585nm脉冲染料激光治疗色素性、血管性皮肤病1686例

目的评估Q开关Nd:YAG激光和585nm脉冲染料激光治疗色素性皮肤病和血管性皮肤病的疗效。方法分别采用Q开关Nd:YAG激光治疗色素性皮肤病400例、585nm脉冲染料激光治疗血管性皮肤病1177例,并采用二者治疗病毒疣109例,观察疗效。结果Q开关Nd:YAG激光对色素性皮肤病的有效率由高到低依次为:雀斑(100%)、文身(87.50%)、脂溢性角化(84.60%)、斑痣(46.70%)、咖啡斑(40.40%);585nm脉冲染料激光对血管性皮肤病的有效率由高到低为:蜘蛛痣(98.30%)、草莓状血管瘤(91.40%)、红斑期酒渣鼻(83.30%)及颜面毛细血管扩张(80.00%);二者对病毒疣的有效率分别为:寻常疣90.10%、尖锐湿疣66.70%、扁平疣52.60%。结论Q开关Nd:YAG激光治疗色素性皮肤病、585nm脉冲染料激光治疗血管性皮肤病及二者治疗病毒疣疗效较好。     

色素性青光眼的临床特征及处理

目的 观察色素性青光眼的临床表现及特征,探讨其治疗方法及预后.方法 色素性青光眼患者8例16只眼,均为男性.年龄19～48岁(34.13±7.12)岁.观察眼压、裂隙灯显微镜、房角、超声生物显微镜(UBM)、眼底及视野等;9只眼行小梁切除术,7只眼行Nd:YAG激光周边虹膜切除.随访时间为12～36个月.结果 所有病例都为近视,1例为高度近视;眼前段色素播散表现为:75%(6例12只眼)的患眼有典型的Krukenberg梭.所有患眼晶状体韧带后囊附止部及晶状体韧带小束均可见色素沉着;周边虹膜后凹;小梁网上均可见宽、均匀而较致密的色素带(Ⅲ级);超声生物显微镜检查示所有患者均存在反向瞳孔阻滞现象,6例存在虹膜一睫状突接触.术后3月复查UBM显示所有患者周边虹膜形态平坦,反向瞳孔阻滞现象解除.所有患者眼压均控制平稳.为10.5～19mmHg(14.3±5.2)mmHg.Humphrey视野检查显示无进展情况.结论 色素性青光眼为一表现相对复杂的特殊类型的青光眼,需要正确认识并适时给予恰当的治疗.     

Acrorenal syndrome associated with visual defect

The clinical, biochemical, radiological, and histological data of a 5-year-old boy with severe limb deformities and renal failure due to oligomeganephronia and renal hypoplasia are reported. This patient represents another example of acrorenal syndrome. This boy has a severe visual defect due to pigmentory retinopathy, which has not been reported previously. Received November 17, 1995; received in revised form and accepted June 11, 1996     

Is autosomal recessive deafness associated with oculocutaneous albinism a “coincidence syndrome”?

Hearing impairment is frequently found associated with pigmentary disorders in many syndromes. However, total oculocutaneous albinism (OCA) associated with deafness has been described only once, by Ziprkowski and Adam (Arch Dermatol 89:151–155, 1964) in an inbred family. A syndrome associating deafness and OCA was suggested by the authors, but two separate recessive genes segregating in this inbred group were also proposed later by Fraser (OMIM # 220900). Combined deafness and total OCA were also observed by us in a family originally reported to be nonconsanguineous but in which haplotyping showed evidence of a common ancestry: the proband was affected by both diseases, one of his sisters had only OCA and another sister had only deafness. Both the proband and his deaf sister were found to be homozygotes for the 35delG mutation (GJB2 gene), the most frequent cause of hereditary deafness. Linkage analysis with markers close to the four known OCA loci excluded linkage to OCA1, OCA2, and OCA3, and homozygosity in markers near OCA4 locus was observed. Sequencing of the corresponding gene (MATP) revealed a c.1121delT mutation, which leads to a stop codon at position 397 (L374fsX397). Clearly, the combined occurrence of deafness and albinism in this pedigree was due to mutations in two different genes, showing autosomal recessive inheritance. We speculate that the putative syndrome reported by Ziprkowski and Adam might have resulted from the co-occurrence of autosomal recessive deafness and albinism in the same pedigree, as suggested by Fraser.