Heritable changes in gene expression are regarded as epigenetics,which do not involve coding sequence modifications.The study of ophthalmology epigenetics is a rapidly growing area in biomedical research.Epigenetic mechanisms principally include DNA methylation,histone modification,chromatin remodeling and noncoding RNA.Aberrant DNA methylation and histone modification are linked to a number of age-related disorders,such as cancer,autoimmune and others.In recent years,the modulations of epigenetic changes on the pathogenesis of eye disorders and their roles in therapeutic interventions are drawing more and more attention,and these studies deepen the understanding of relevant diseases.Since the epigenetic alterations are reversible,modifying epigenetic marks contributing to eye diseases provide a new approach to the development of disease prevention,diagnosis and therapies.Herein we discuss the roles of epigenetic changes in eye disease development,hoping that ophthalmologists and researchers pay attention to these researching cues in pathogenesis of eye disorders caused by genetic expression alterations in response to environmental changes,importantly,to the implication for relevant eye disease therapy and prevention.

Objective To study the clinical and pathological features of periodic paralysis.Methods The clinical and pathological data of 9 patients with periodic paralysis were analyzed.Results The clinical manifestation of 9 patients were consistent with the general manifestation of periodic paralysis.The typical tubular aggregates in many fibers were observed in 4 cases of 7 patients with skeletal muscle biopsy.A few degenerating fibers were observed,while necrotic fibers and regenerating fibers were not found.Electromicroscope showed Honeycomb appearance in tubular aggregates of cross section,which was filled with glycogen granule.Conclusions According to the clinical manifestation and the laboratory examination,periodic paralysis can be clinical diagnosis.The tubular aggregates in many fibers are important pathological characteristic of periodic paralysis.In electromicroscope analysis,tubular aggregates may be compose of transverse tubular system or sarcoplasmic reticulum expansion.

Objective To investigate whether TNF-α can promote, but TGF-β can reduce Gli2 expression in primary leukemia cells. Methods (1)Western blot was used to detect Gli2 protein expression in leukemic cells. (2)Primary leukemia cells were treated with TGF-β1 or TNF-α,and expressions of Gli2 and TGF-βR were detected. (3)Primary leukemia cells were treated with TGF-β1,TNF-α or/and SIS3, and Gli2 protein expression was detected. Results (1)The primary leukemia cells could express Gli2 protein. (2)Significant reduction of Gli2 mRNA was observed in 1 ~ 10 ng/mL TGF-β1-treated primary leukemia cells for 12 ~ 24 h, No significant differences of Gli2 mRNA was found between the control group and TNF-α group. (3)Protein expresson of TGF-βRⅠand TGF-βRⅡ in 5 ng/mL TNF-α-treated primary leukemia cells for 24 h was higher than that of the control group. (4)Gli2 portein expression was lower in TGF-β1 with or without TNF-α-treated primary leukemia cells for 24 h than that in the control group, and Gli2 portein expression in the TGF-β1 plus TNF-α group was lower than that in TGF-β1 group. Conclusion Combinations of TGF-β and TNF-α can efficiently inhibit Gli2 expression than TGF-β alone in primary leukemia cells.

Objective To make hiatal hernia(HH) children grow and develop well by making correct early diagnosis and reducing misdiagnosis.Methods Reviewing clinical data of 12 patients with HH,including clinical character,X-ray diagnosis,correct examination,treatment and prognosis.Results Of 12 patients,9 cases were left HH,and 3 cases were right HH.All of them had internal expectant treatment;4 of them had operation.All of them had a good prognosis.Conclusions X-ray radiograph is a chief method of diagnosis of hiatal hernia.It is important to choose a specific position properly during radiograph examination.

Objective To assess the image findings of femoroacetabular impingement (FAI).Methods Image findings of 9 patients with surgically proved femoroacetabular impingement were retrospectively reviewed for characteristic image findings of FAL All 9 patients underwent X-ray examinations and MRI of affected hip, and 1 patient underwent MR arthrography (MRA) additionally. Results X-ray examinations of all 9 patients showed bump at femoral head-neck junction or overcoverage of the acetabula.MRI showed various degrees of injury of anterosuperior labrum in all 9 patients. The injuries were stage Ⅰ A in2 cases, stage Ⅰ B in3, stage ⅡA in2, and stage ⅡB in 2. MRA of the case showed tears of anterosuperior labrum, with contrast media entering into the teared labrum. There were sclerosis and cystic degeneration of subchondral bone of femoral head in 2 cases, and these findings were confirmed as cartilage delamination by surgery. Conclusions MRI can display the injures of labrum and articular cartilage, which is helpful to the early diagnosis of FAI.

Objectiye To investigate the relationship between microsatellite instability (MSI) and mismatch repair gene (MMR) in lung carcinoma,and to analyze its action in lung carcinogenesis.Methods DNA was extracted from 50 cases of lung carcinoma and adjacent normal tissue.SSCP was used to detect MSI.Immunohistochemistry was performed to measure the expression of hMLH1 and hMSH2 protein in lung carcinoma.Results Of the 50 cases of lung carcinoma,14 with high MSI,21 with low MSI,and 15 with microsatellite stability,0 with MSI in normal group (P = 0.000).Lack of hMLH1 and hMLH2 staining was found in 37 of 50 (74 %) and 16 of 50 (32 %) lung carcinoma tissues with MSI,respectively; but both of hMLH1 and hMSH2 positive staining was found in the lung carcinoma tissues with MSS.Conclusion MSI appears to be associated with lung carcinogenesis,and inactivation of either hMLH1 or hMSH2 may be responsible for MSI,suggesting that MSI may become one of diagnosis indexes of lung carcinoma.

Objective To analyze the factors related to glare occurred after the phakic intraocular lens (P-IOL) implantation,and to raise the standard for the P-IOL selection.Design Retrospective case series.Participants 104 patients with high myopia underwent P-IOL implantation in Beijing Tongren Hospital.Methods In 104 cases,22 cases (22 eyes) were implanted angle supported Phakic6 designed accord with corneal symmetry,54 cases (54 eyes) were implanted iris fixed Verisyse,and 28 cases (28 eyes) were implanted posterior chamber PRL.Selection of the diameter of P-IOL optics depended on P-IOL diopters.The pupil diameter,the P-IOL optic center position,the pupil and corneal center position were measured with anterior segment optical coherence tomography (OCT).The contrast sensitivity (CS) under different condition (day,day and glare,night,night and glare) and in different space frequency (1.5,3,6, 12,18c/d)were examined with Optec6500 system.Main Outcome Measures Glare incidence,CS,and the influence of pupil diameter and P-IOL location to glare.Results None of the 104 P-IOL eyes occurred glare in day time.59 eyes (56.73%) complained of glare in dime condition.The glare incidence was 63.18% (14/22) in Phakic6 eyes,55.56% (30/54) in Verisyse eyes,and 53.27% (15/28) in PRL eyes (P=0.691).CS of all surgical eyes were improved in day time with or without glare luminous environment (P=0.000).And the CS of halo-complaining eyes was lower than of no halo eyes in night time with or without glare luminous environment (P=0.000).Glare oc- curred more frequently in eyes with the pupil diameter larger than P-IOL diameter in clime condition after surgery (10 in Phakic6 eyes, 20 in Verisyse eyes,12 in PRL eyes,all P

Adult ; Humans ; Male ; Nasal Cavity ; pathology ; Orbit ; pathology ; Paranasal Sinuses ; pathology ; Skull Neoplasms ; pathology ; surgery

Objective To investigate the correlation between Toll-like receptor 4 (TLR4) single nucleotide polymorphism (SNP) and the risk,severity and prognosis of sepsis in Chinese patients of Han nationality.Methods One hundred and three Han nationality patients who developed sepsis after surgery,aged 18-80 years,were enrolled in the sepsis group,and 114 Han nationality patients without sepsis after surgery,aged 18-80 years,were enrolled in the control group.Venous blood samples were taken from the peripheral vein and three SNPs in TLR4 gene,rs10759932,rs11536889 and rs2737190,were genotyped by matrix-assisted laser desorption ionization time of flight mass spectrometry analysis.Correction for Logistic regression analysis was made to eliminate the effects of sex,age,underlying diseases and operation methods.The correlation between genotypes of SNP and occurrence of sepsis,organ dysfunction,septic shock and death from sepsis was analyzed.The odds ratio (OR) and 95％ confidence interval (Cl) were calculated.Results Compared with the control group,there was a significant difference in genotype frequency ratios of rs10759932 (P ＜ 0.05),but there was no significant difference in genotype frequency ratios of the other two SNPs in sepsis group (P ＞ 0.05).There was correlation between rs10759932 and the occurrence of sepsis,and the variant allele (CT + CC genotypes) of rs10759932 increased the risk of sepsis (OR =1.86,95％ Cl 1.17-2.97,P ＜ 0.05).There was no correlation between the three SNPs and sepsis-related organ dysfunction,septic shock and death from sepsis (P ＞ 0.05).Conclusion There is correlation between the variant allele of TLR4 rs10759932 and the increase in risk of sepsis after surgery in Chinese patients of Han nationality.

By means of searching the ancient and modern literature,this study mainly investigated the etiology and pathogenesis of IBD,summarized the rules of acupoint selection and the experimental mechanism of the moxibustion treatment for IBD,providing the basis and theoretical evidence of acupoint selection and moxibustion therapy for clinical practice and studies.Ancient literatures were retrieved in TCM database system,while modern literatures in Pubmed,CNKI and VIP database from January,2005 to January,2016.Finally,comprehensive analysis was implemented among the selected literatures.It was found that the pathogenesis of IBD was associated with exogenous evils,diet,emotion,and fatigue during chronic diseases in TCM.The treatments of acupuncture and moxibustion for IBD should consider both the primary symptoms and root causes by regulating functional activity of Zang and Fu and also warming and nourishing the spleen and stomach.On this basis,acupoint selection mainly focused on the stomach meridian with the functions of invigorating spleen and stomach,elevating clear qi and descending turbid,recovering the bowel function and strenthening the body and antidiarrhea.Modern research upon the scientific basis of TCM indicated that moxibustion stimulated the thermoreceptors around the acupoints leading to the increased degranulation of mast cells.Immune factors were impacted with the regulation of transcriptional activators in the bowel for repairing mucosal barrier and preventing intestinal fibrosis in IBD.In conclusion,moxibustion was effective on warming and nourishing spleen and stomach and regulating the function activity of bowel for the prevention and treatment of IBD.Achievements were made in the mechanism researches on IBD based on the TCM theory.However,some profound mechanisms need in-depth exploring.