Association of genetic variants at MYP10 and MYP15 with high myopia in a Han Chinese population

Background: Previous genome-wide association study (GWAS) has revealed the association between MYP10 at 8p23 and MYP15 at 10q21.1 and high myopia (HM) in a French population. This study is managed to discover the connection between some single nucleotide polymorphism (located at MYP10 and MYP15) and Han Chinese HM.

Methods and Results: This case-control association study contained 1673 samples, including 869 ophthalmic patients and 804 controls. Twelve tag SNPs have been selected from the MYP10 and MYP15 loci and genotyped by SNaPshot method. Among 12 SNPs, rs4840437 and rs6989782 in TNKS gene were found significant association with HM. Carriers of rs4840437G allele and rs4840437GG genotype created a low risk of high myopia (P = .036, OR = 0.81, 95%CI = 0.71–0.93; P = .016, OR = 0.73, 95%CI = 0.56–0.96; respectively). Carriers of rs6989782T allele and rs6989782TT+CT genotype also had a decreased risk of high myopia (P = .048, OR = 0.82, 95%CI = 0.71–0.94; P = .006, OR = 0.74, 95%CI = 0.59–0.92; respectively). Other 10 SNPs displaced nonsignificant association with HM. Additionally, the risk haplotype AC and the protective haplotype GT, generated by two SNPs in TNKS, were considerably more likely to be association with HM (for AC, P = .002 and OR = 1.26; for GT, P = .027 and OR = 0.84).

Conclusions: Our results demonstrated that some heritable variants in the TNKS gene are associated with HM in the Han population. The possible functions of TNKS in the development and pathogenesis of hereditary high myopia still require further researches to identify.     

Radiographic Measurements of Patients With Juvenile Hallux Valgus Compared With Age-Matched Controls: A Cohort Investigation

The purpose of this study was to investigate radiographic measurements in a cohort of patients with juvenile hallux valgus (with a hallux valgus angle > 15 degrees ) using standardized weightbearing x-rays compared with an age-matched control group. First metatarsal protrusion distance, metatarsus primus adductus angle, metatarsus adductus, first metatarsal cuneiform angle, calcaneal inclination angle, and talocalcaneal angles were assessed with discriminant functional analysis. A total of 37 sets of data were analyzed from patients with a mean age of 13.45 +/- 1.75 years. The study identified 2 significant components of juvenile hallux valgus: a positive first metatarsal protrusion distance (P <.001) and metatarsal primus adductus angle (P = .002). Discriminant functional analysis was then used to determine the best predictors of juvenile hallux valgus. This analysis allowed only 1 variable, metatarsal protrusion distance, as a predictor of whether juvenile hallux valgus was present (P < .001), with 94.3% accuracy. This study showed that a positive metatarsal protrusion distance is a significant component of juvenile hallux valgus.     

高度近视的病因学研究进展

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。     

Neurology of the neuronal ceroid-lipofuscinoses: Late infantile and juvenile types

My experience with more than 80 cases of the late infantile and juvenile forms of the neuronal ceroid-lipofuscinoses over the last 5 years has led to the following realizations. The 2 variants are neurologically distinct entities and probably are the result of different genetic defects. Treatment includes supportive measures and anticonvulsant medication. Therapy for behavioral and psychiatric disturbances in the juvenile type proves to be particularly challenging as neuroleptic medications tend to worsen parkinsonian like symptoms. Neuropathologic and neuro radiologic explanation of clinical symptomatology correlates best with neuronal loss and not neuronal storage. There is a paucity of neuropathologic documentation of these 2 types; additional reports are encouraged.     

Bipolar disorder in children and adolescents: obstacles to early diagnosis and future directions

Aim: This article reviews research centred around juvenile bipolar disorder with particular reference to diagnostic difficulties. Putative deficits are scrutinized with respect to trait likelihood and the roles of neuropsychology and neuroimaging in enhancing our understanding of juvenile bipolar disorder are discussed. Methods: Search terms including childhood, adolescent, youth and juvenile combined with the terms ‘bipolar disorder’, mania, depression and hypomania were used to identify relevant studies in MEDLINE and PsychLit. Results: Over recent years research into this relatively new disorder has increased phenomenally. Key issues within the field include diagnostic specificity, the heritability of the disorder, the impact of comorbidity and the implications of neuropsychological and neuroimaging findings. Conclusion: Despite concerning controversies in literature the diagnosis of bipolar disorder in children and adolescents as compared with adults, promising future research directions include better neurological characterization of the disorder through the application of findings from clinical populations, neuropsychological and neuroimaging research.     

572例近视眼患者中央角膜厚度测量报告

本文作者在572例(1144只眼)近视眼患者拟行角膜放射状切开(RK)手术前,对角膜不同部位厚度进行了测量,对其值作统计学处理,均值及标准差为0.527±0.037mm,标准误为0.002,说明我国95％的近视眼患者中央角膜厚度范围为0.455—0.600mm。提示我国成人各年龄组左、右眼角膜厚度与左、右眼屈光度、性别、眼别无关。强调RK手术前对角膜厚度测量的重要性,但手术预后优劣为多因素所致。     

放射状角膜切开的实验病理与临床应用

以１４只兔及２只猴为动物模型，对放射状角膜切开术（ＲＫ）进行了２￣３个月观察，发现：ＲＫ切口内的上皮塞子持续２个月以上才逐渐消退。术后一个月内上皮下基底膜形成，后逐渐变薄，切口内的成纤维细胞分裂增殖较慢，开始走行与切口平行，１５天后可见横过切口，２月后实质表层成纤维细胞排列变得整齐，但深层仍较紊乱，胞核多深染。术中切穿角膜的实验兔，术后２个月病理切片可见：切口附近内皮细胞丢失，内弹力膜断裂，切口内