Background Congenital cataract is a major cause for blindness of childhood.Genetic gene mutation accounts for almost 1/3 of congenital cataract patients.The most common inheritance type is autosomal dominant congenital cataract (ADCC).Over 100 mutations in 26 genes have been found to be associated with ADCC.Objective This study was to identify the disease-causing gene mutation in a family with ADCC.Methods This study was approved by Ethic Committee of Beijing Tongren Hospital and followed Declaration of Helsinki.A northern Chinese family with autosomal dominant congenital nuclear cataract was entrolled in Beijing Tongren Hospital in January 2011.Ocular examinations were performed and periphery blood specimens were collected from each family member under the informed consent.Genomic DNA was extracted.Twenty-one microsatellite markers around 17 ADCC genes were selected for linkage analysis,and two-point LOD score was calculated.CRYGC gene and CRYGD gene were amplified and screened for mutations using direct sequencing.ProtScale software was used to analyze the changes of hydrophobicity of the mutated protein.Co-segregation of the observed change with the disease phenotype was further detected by restriction fragment length polymorphism (RFLP).Results This family included 20 members of 4 generations,and 9 patients were examined in serial 4 passages,which conformed to autosomal dominant inheritance pattern.Clinical examination revealed binocular congenital nuclear cataract in the 9 patients.Maximum two-point LOD score was 4.68 at marker D2S325 (θ=0).A known T→C change at position 127 of cDNA sequence was found by mutations screening of CRYGD gene.ProtScale programs showed an obvious increase of the local hydrophobicity in the mutant protein.RFLP results indicated that this missense mutation co-segregated with affected members of the family,but was absent in unaffected members and 100 unrelated controls.Conclusions c.T127C mutation of CRYGD gene appears to be the molecular pathogenesis of this ADCC family.Aberrant structure of mutant CRYGD protein caused by hydrophobicity change may lead to opacification of lens.

Objective To assess the characteristic of normal tension glaucoma (NTG) patients with mild cogni?tive impairment (MCI). Methods This study included twenty-six cases of normal tension glaucoma patients who were diagnosed at ophthalmology department of Peking University Third Hospital. All the participants were examined by us?ing the scales of Montreal Cognitive Assessment (MoCA), mini-mental state examination(MMSE), clinical dementia rat?ing (CDR), activities of daily living (ADL), Hamilton anxiety scale (HAMA), Hamilton depression scale (HAMD), Pitts?burgh Sleep Quality Index (PSQI) and polysomnography (PSG). The patients were then divided into Group with MCI (16 cases) and Group without MCI (19 cases). Results There was no difference between the two groups in gender, age, edu?cation, depression, anxiety and body mass index (BMI) (P>0.05), but significant difference in MoCA scores (P<0.05). The incidence rate of sleep disorder of PSQI in was 28.6%(10/35 patients) of total NTG patients, 43.8%(7/16 patients) in Group with MCI, and 15.8% (3/19 patients) in Group without MCI, respectively. The PSQI score was higher in Group with MCI than in Group without MCI (P<0.05). Sleep efficiency was higher in Group without MCI than in Group with MCI (P<0.05), but no difference was found between the two groups in six other indexes of PSQI (P>0.05). The in?cidence rate of sleep structure disorder of PSG in all the NTG patients was 85.7%(30/35 patients), 87.5%(14/16 pa?tients) in Group with MCI, and 84.2%(16/19 patients) in Group without MCI. Sleep time of NREM-N3 was significant?ly shorter in Group with MCI than in Group without MCI (P<0.05), but no difference was found between those groups in total sleep time, sleep efficiency, sleep latency and REM time (P>0.05). Conclusion NTG patients with mild cogni?tive impairment are more prone to sleep disorders, especially sleep structure disturbance and short NREM-N3 time may affect cognitive function.

ObjectiveTo investigate the effects of Taijiquan training on bone density and balance function of post-menopause women. Methods59 volunteers of post-menopausal women were divided into Taijiquan group and control group. Bone density was examined with DPX-L. The balance function were recorded with win-pop balance monitor and star diagram. ResultsBone density in lumbar vertebra, left collum femoris and left Ward's septa were higher in the Taijiquan group than in the control group. The lengths of center excursive loci reduced in Taijiquan group. The distances that the foot could touch were longer at Posterolateral, posteromedial, posterior, lateral(back) directions in the Taijiquan group than in the control group. ConclusionTaijiquan training can improve the bone density and balance function in post-menopause women.