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 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 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 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.

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

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.

OBJECTIVETo investigate the influence of parathyroid hormone and estrogen on alveolar bone metabolism of castrated female rats.

METHODSSixty-six female Wistar rats which were healthy and 4 months old were divided into two groups, with group SHAM (n = 18) and group ovariectomy (OVX) (n = 48). After 8 weeks of ovariectomy, the osteoporosis model was confirmed by examing 8 ovariectomized and sham-operated rats. The rest 10 rats in group SHAM were the control group (group A). The rest 40 rats in group OVX were divided into ovariectomized group (group B), ovariectomized and treated with estrogen (group C), ovariectomized and treated with parathyroid hormone (group D), ovariectomized and treated with estrogen and parathyroid hormone (group E) at random with 10 in each group. Group A and B injected physiological saline (1 mL x kg(-1)), group C injected estradiol benzoate (10 microg x kg(-1)), group D injected parathyroid hormone (20 microg x kg(-1)), group E injected parathyroid hormone (20 microg x kg(-1)) and estradiol benzoate (10 microg x kg(-1)). The intraperitoneal injection were maken every other day to rats in each group, which continued for 8 weeks. The bone mineral density (BMD), bone histomorphology and serum Ca, P, alkaline phosphatase (ALP) were measured after therapy.

RESULTSAfter 8 weeks of ovariectomy, the lumbar BMD of ovariectomized rats were significantly declined compared with those of the sham-operated rats (P < 0.05). Eight weeks later after the drug use, the BMD, %Tb.Ar, Tb.Th, Tb.N in group C, D, E were slightly elevated compared to group B, especially the group E (P < 0.05). Serum calcium and phosphorus values did not change significantly (P > 0.05). ALP values in group B was significantly higher than that in group A (P < 0.05).

CONCLUSIONIntermittent application of parathyroid hormone in small doses can increase alveolar BMD of castration rats and improve their bone structure. And it can have synergy effects on the treatment of osteoporosis if it is used combining with estrogen.

Alkaline Phosphatase ; Animals ; Bone Density ; Estradiol ; analogs & derivatives ; Estrogens ; Female ; Osteoporosis ; Ovariectomy ; Parathyroid Hormone ; Rats ; Rats, Sprague-Dawley ; Rats, Wistar

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.

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