A novel mutation of LRP5 gene in familial exudative vitreoretinopathy / 中华实验眼科杂志

Objective:To investigate the clinical and genetic mutation characteristics of a pedigree with familial exudative vitreoretinopathy (FEVR) associated with a LRP5 gene mutation. Methods:A pedigree investigation was performed in a two-generation Chinese Han family with FEVR, which was diagnosed in The First Affiliated Hospital of Xi'an Jiaotong University.Three family members, the proband and his parents, underwent ophthalmic examination, including visual acuity, intraocular pressure, slit-lamp microscopy, fundoscopy and wild-field fundus fluorescein angiography (FFA), to clinically characterize the FEVR phenotype.Peripheral blood of the families were collected for high-throughput sequencing and bioinformatics analysis to identify the pathogenic gene.Sanger sequencing verification was conducted for the detected mutation.The pathogenicity of identified mutations was analyzed according to the guidelines of the American Association of Medical Genetics (ACMG) with software such as Mutation Taster, Polyphen-2, PROVEN and REVEL.This study adhered to the Declaration of Helsinki and was approved by an Ethics Committee of The First Affiliated Hospital of Xi'an Jiaotong University (No.2017-740). Written informed consent was obtained from each subject.Results:The proband was a 27-year-old male.Uncorrected visual acuity (UCVA) was 1.0 for his right eye and 1.2 for his left eye.Fundoscopy showed vascular tortuosity and vasodilation in the temporal peripheral retina of both eyes.FFA indicated that hairbrush-like vasculature and non-perfusion lesion in peripheral retina.The best-corrected visual acuity (BCVA) of the proband's mother, a 51-year old female, was 1.0 for the both eyes.Temporal retinal vascular tortuosity in her left eye was found with fluorescein leakage detected by FFA.The BCVA of the proband's father, a 56-year-old male, was 1.0 for both eyes.Leopard fundus and optic disc atrophy were visible.FFA result was normal.The result of genetic test showed that there were two novel gene mutations in the family with LRP5 gene c. 4110T>G(p.Cys1370Trp) and FSCN2 gene c. 1495G>A(p.Gly499Ser). According to guidelines of ACMG, LPR5 c. 4110T>G was a mutation with uncertain significance.Multiple software, such as MutationTaster, Polyphen-2, PROVEN and REVEL predicted that LRP5 c. 4110T>G mutation might cause detrimental effects on genes or gene products.REVEL scale was 0.93, which indicated that it might be a pathogenic variant. Conclusions:LRP5 gene c. 4110T>G(p.Cys1370Trp) may be a novel mutation for FEVR, which enriches the mutation spectrum of LRP5 gene.

Long-term efficacy of intravitreal ranibizumab therapy for idiopathic choroidal neovascularization / 中华实验眼科杂志

Objective To observe the long-term clinical efficacy of intravitreal ranibizumab (IVR) in patients with idiopathic choroidal neovascularization (ICNV),and to explore the indicators that affect curative effect.Methods A retrospective self-controlled study was performed.The clinical data of 61 ICNV patients (61 eyes) from January 2013 to May 2014 in the First Affiliated Hospital of Xi'an Jiaotong University were Collected.The best corrected visual acuity (BCVA),the central retinal thickness (CRT),the height of pigment epithelium detachment (PED) and the defect length of ellipsoidal zone (EZ) before and after treatment were analyzed,the baseline clinical indicators were compared among different IVR treatment times and ICNV types.Results The mean follow-up time was (41.5±4.6) months.The mean BCVA (LogMAR) were 0.59±0.32 and 0.17 ± 0.12,the mean CRT were (331.18±80.42) μm and (245.07±44.67) μm,the mean height of PED were (246.73±104.75) μm and (205.78±117.01) μm and the mean defect length of EZ were (2 315.10± 1 233.77) μm and (1 325.98± 1 157.30) μm before and after treatment,respectively,with significant differences between before and after treatment (all at P＜0.05).Fifty-three patients (86.89％) completed the treatment in the first year or within three times.The mean CRT and the height of PED in the IVR ≥ 3 times treatment group were significantly higher than those in the IVR 1 times treatment group (all at P＜0.05).There was no significant difference in the average treatment times among inferior lateral of macular fovea,side of macular fovea and outside of macular fovea (F =1.982,P ＞ 0.05).Conclusions IVR therapy for ICNV is well tolerated with an improvement in BCVA,CRT,height of PED and defect length of EZ.The majority of patients can complete the treatment within 1 year,and most patients can be cured within 3 times treatments.The number of treatments may be associated with the CRT and the height of PED at baseline.

3.0 T MRI observe the ears and sinus damage degree of patients with acute carbon monoxide poisoning / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#Through 3.0 T MRI study the ear and sinus lesions of patients with acute carbon monoxide poisoning.@*METHOD@#From 2012 to 2015 collected the MRI images of the 45 patients with acute carbon monoxide poisoning, observe their changes of middle ear and mastoid and sinus imaging.@*RESULT@#The middle ear injury of mastoid 41 cases (91.1%), 22 cases (48.9%) of maxillary sinus injury, ethmoid sinus injury in 20 cases (44.4%), sphenoid sinus 9 cases (20.0%), 5 cases (11.1%) of frontal sinus injury. Carbon monoxide poisoning patients according to clinical symptoms can be divided into light, medium and heavy 3 groups, observing the ear sinus damage degree for comparison between groups, found to have significant differences (P < 0.05).@*CONCLUSION@#The patients with acute carbon monoxide poisoning ear and sinus injury should cause the attention of the medical staff, MRI can reflect people's ears from the details and the damage degree of the sinuses.

Prokaryotic expression of P gene from rabies virus and application of the indirect ELISA assay in the detection of its gene products / 中国人兽共患病学报

The complete length of P gene from rabies virus was amplified by RT-PCR using a pair of specific primers designed according to the relevant sequences from GenBank. The PCR product was cloned into cloning expression vestor pGM-T to obtain the cloning expressed plasmid pGM-T-P. After double-digestion by NotI and EcoRI, the product was transferred into prokaryotic expression vetor pET-32a(+)to obtain the prokaryotically expressed plasmid pET-32a-P. The target gene was then expressed in the E.coli BL21(DE3) cell with IPTG induction. The highest expression of target protein was analysed by SDS-PAGE, and the good immunoreactivity to rabies virus antibodies was proved by Western-blot analysis. By using purified protein, the indirect ELISA assay for the detection of rabies virus antibodies in canine serum was applied after management of the optional working condition.