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.

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 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.

Female ; Hemophilia A ; complications ; Humans ; Middle Aged ; Myasthenia Gravis ; complications

BACKGROUND:Mitochondrial calcium uptake 1 (MICU1) is one of the important molecules to maintain the mitochondrial calcium homeostasis. The regulation of MICU1 to mitochondrial calcium homeostasis may play an important role in diabetic cardiomyopathy, but the underlying mechanism remains unclear.
OBJECTIVE:To construct a lentiviral vector carrying MICU1 gene to transfect H9C2 cel s, and then to assess MICU1 level in H9C2 cel s thereby establishing a platform for researching the occurrence and development of diabetic cardiomyopathy at a cel ular level.
METHODS:DNA fragments of MICU1 were amplified by PCR, cleaved with Spe I, EcoR I and cloned into the lentiviral vector pRRLsin.CMV.eGFP to construct pRRLsin.CMV.MICU1-eGFP vector. 293T cel s were co-transfected with recombined pCMVDR8.91 and pCMV-VSVG to produce pRRLsin.CMV.MICU1-eGFP lentiviral viruses, and then used to infect H9C2 cel s. mRNA and protein expressions of MICU1 in the transfected H9C2 cel s were evaluated by real-time PCR and western blot assay. Mitochondrial calcium level in Rhod-2-stained H9C2 cel s was tested under confocal microscope.
RESULTS AND CONCLUSION:The recombinant inducible lentiviral vector containing MICU1 gene was successful y constructed. 293T could express green fluorescent protein with increased MICU1 level after pRRLsin.CMV.MICU1-eGFP transfection. The mRNA and protein expressions of MICU1 in the infected H9C2 group were obviously up-regulated compared with the other groups. MICU1 could remarkably improve the mitochondrial calcium level under Rhod-2 staining. These results show that pRRLsin.CMV.MICU1-eGFP lentiviral viruses are efficient to transfect H9C2 cel s, which wil be powered to lay a foundation for the immortalized cel line establishment.

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.

Objective To investigate the metabolic changes in free fatty acids in the livers of obese rats with type 2 diabetes.Methods Thirty male SD rats were randomly divided into control group(Con group) and diabetes mellitus group(DM group),with 15 in each group.Rats in Con group and DM group were fed with normal diet and high-fat diet,respectively.Eight weeks later,OGTT and ISI test were performed to identify insulin resistance.Then the insulin-resistant rats received intraperitoneal injection of low-dose streptozocin(STZ) to induce type 2 diabetes.After giving high-fat diet further for six more weeks,8 rats of each group were sacrificed and artery blood and liver sample were obtained for further analysis.The mRNA levels of diacylglycerol O-acyltransferase 1(DGAT1),carnitine palmitoyltransferaseⅠ(CPTⅠ),palmitoyl-CoA oxidase(ACOX1),D-bifunctional protein(DBP) and L-bifunctional protein(LBP),which were involved in fatty acids metabolism,were evaluated by RT-PCR.The protein level of DBP was evaluated by Western blotting Peroxisome fatty acids ?-oxidation was measured by spectrophotometry.Free fatty acids in blood and liver were determined by gas chromatography.Oil red staining was used to determine the fat accumulation in liver.Results The mRNA expressions of DGAT1,CPTⅠ,ACOX1 and LBP increased(P