Journal of rare diseases research & treatment最新文献_第5页

Commentary: SU9516 increases α7β1 Integrin and Ameliorates Disease Progression in the mdx Mouse Model of Duchenne Muscular Dystrophy. 评论:SU9516在mdx小鼠杜氏肌营养不良模型中增加α7β1整合素并改善疾病进展。

Journal of rare diseases research & treatment Pub Date : 2017-01-01 Epub Date: 2017-08-29

Apurva Sarathy, Andreia M Nunes, Tatiana M Fontelonga, Tracy Y Ogata, Dean J Burkin

引用次数: 0

Etiology and prevention of prevalent types of cancer. 癌症流行类型的病因和预防。

Journal of rare diseases research & treatment Pub Date : 2017-01-01 Epub Date: 2017-05-02 DOI: 10.29245/2572-9411/2017/3.1093

Ercole L Cavalieri, Eleanor G Rogan

{"title":"Etiology and prevention of prevalent types of cancer.","authors":"Ercole L Cavalieri, Eleanor G Rogan","doi":"10.29245/2572-9411/2017/3.1093","DOIUrl":"10.29245/2572-9411/2017/3.1093","url":null,"abstract":"Endogenous estrogens become carcinogens when excessive catechol estrogen quinone metabolites are formed. Specifically, the catechol estrogen-3,4-quinones can react with DNA to produce a large amount of specific depurinating estrogen-DNA adducts, formed at the N-3 of Ade and N-7 of Gua. Loss of these adducts leaves apurinic sites in the DNA, which can generate subsequent cancer-initiating mutations. Unbalanced estrogen metabolism yields excessive catechol estrogen-3,4-quinones, increasing formation of the depurinating estrogen-DNA adducts and the risk of initiating cancer. Evidence for this mechanism of cancer initiation comes from studies in vitro, in cell culture, in animal models and in human subjects. High levels of estrogen-DNA adducts have been observed in women with breast, ovarian or thyroid cancer, and in men with prostate cancer or non-Hodgkin lymphoma. Observation of high levels of depurinating estrogen-DNA adducts in high risk women before the presence of breast cancer indicates that adduct formation is a critical factor in breast cancer initiation. Two dietary supplements, N-acetylcysteine and resveratrol, complement each other in reducing formation of catechol estrogen-3,4-quinones and inhibiting formation of estrogen-DNA adducts in cultured human and mouse breast epithelial cells. They also inhibit malignant transformation of these epithelial cells. In addition, formation of adducts was reduced in women who followed a Healthy Breast Protocol that includes N-acetylcysteine and resveratrol. Blocking initiation of cancer prevents promotion, progression and development of the disease. These results suggest that reducing formation of depurinating estrogen-DNA adducts can reduce the risk of developing a variety of types of human cancer.","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":"2 3","pages":"22-29"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6404759/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37041143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Ataxia-Telangiectasia Mutated Kinase: Role in Myocardial Remodeling 共济失调-毛细血管扩张突变激酶:在心肌重塑中的作用

Journal of rare diseases research & treatment Pub Date : 2016-12-16 DOI: 10.29245/2572-9411/2017/1.1077

Patsy R. Thrasher, Mahipal Singh, Krishna Singh

引用次数: 8

Gene therapy for hemoglobin disorders - a mini-review 血红蛋白疾病的基因治疗——综述

Journal of rare diseases research & treatment Pub Date : 2016-11-10 DOI: 10.29245/2572-9411/2016/2.1028

Parul Rai, P. Malik

引用次数: 11

Rationally combining anti-VEGF therapy with radiation in NF2 schwannoma NF2型神经鞘瘤合理联合抗vegf治疗

Journal of rare diseases research & treatment Pub Date : 2016-10-29 DOI: 10.29245/2572-9411/2016/2.1042

N. Zhang, Xing Gao, Yingchao Zhao, Meenal Datta, Pinan Liu, Lei Xu

引用次数: 5

Apoptosis-based therapy to treat pulmonary arterial hypertension 以细胞凋亡为基础的治疗肺动脉高压

Journal of rare diseases research & treatment Pub Date : 2016-10-28 DOI: 10.29245/2572-9411/2016/2.1025

Yuichiro J. Suzuki, Y. F. Ibrahim, N. Shults

{"title":"Apoptosis-based therapy to treat pulmonary arterial hypertension","authors":"Yuichiro J. Suzuki, Y. F. Ibrahim, N. Shults","doi":"10.29245/2572-9411/2016/2.1025","DOIUrl":"https://doi.org/10.29245/2572-9411/2016/2.1025","url":null,"abstract":"Pulmonary arterial hypertension (PAH) is rare, but patients who are diagnosed with this disease still suffer from a lack of satisfactory treatment strategies to prolong survival. While currently approved drugs for PAH have some benefits, these vasodilators only have limited efficacy for eliminating pulmonary vascular remodeling and reducing mortality. Thus, our laboratory has been exploring the use of aggressive drugs, which are capable of causing apoptotic cell death, to treat PAH. We have so far found that three classes of anti-tumor agents, including anthracyclines, taxanes, and proteasome inhibitors, are capable of reducing pulmonary vascular thickness in rats with PAH. These drugs kill cells in remodeled pulmonary vessels without affecting the normal, healthy pulmonary vasculature, revealing that proliferating vascular cells in PAH patients are more sensitive to drug-induced apoptosis compared to the differentiated phenotype that is physiologically important for smooth muscle contraction. Since many apoptosis-inducing drugs cause cardiotoxicity in cancer patients, and because PAH patients already have a weakened heart, we focus on finding biological mechanisms that may reverse pulmonary vascular remodeling without promoting cardiotoxicity. We found two agents, dexrazoxane and pifithrin-α, that selectively inhibit cardiac muscle apoptosis without affecting the drug-induced apoptosis of the proliferating pulmonary vascular cells. Thus, we propose that the addition of apoptosis-inducing drugs and cardioprotectants to PAH therapies may be effective in treating patients and preventing right heart failure.","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":"8 1","pages":"17 - 24"},"PeriodicalIF":0.0,"publicationDate":"2016-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77789989","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 16

Differential stress response mechanisms in right and left ventricles 左右心室不同的应激反应机制

Journal of rare diseases research & treatment Pub Date : 2016-09-16 DOI: 10.29245/2572-9411/2016/2.1033

Makhosazane Zungu-Edmondson, Yuichiro J. Suzuki

{"title":"Differential stress response mechanisms in right and left ventricles","authors":"Makhosazane Zungu-Edmondson, Yuichiro J. Suzuki","doi":"10.29245/2572-9411/2016/2.1033","DOIUrl":"https://doi.org/10.29245/2572-9411/2016/2.1033","url":null,"abstract":"Right ventricular (RV) failure is the major cause of death among patients with pulmonary hypertension. However, differences between the RV and left ventricle (LV) of the adult heart have not been defined, despite myocytes from these two ventricles originate from different progenitor cells. The lack of such knowledge interferes with developing therapeutic strategies to protect the RV. The goal of this study was to identify possible differences between stress responses in the RV and LV free walls of adult rats. We found that levels of angiogenesis and autophagy/mitophagy proteins are higher in the LV than in the RV. Thus, the LV may be more resistant to stress-induced damage. To test this, isolated rat hearts were subjected to biventricular working heart perfusion and ischemia/reperfusion (I/R) injury. However, I/R was found to cause apoptosis in both LV and RV to a similar extent. One mechanism of cardiac apoptosis involves downregulation of GATA4 transcription factor that controls gene transcription of anti-apoptotic Bcl-xL. Interestingly, only in the RV, I/R caused downregulation of GATA4 and Bcl-xL, suggesting that mechanisms of apoptosis may be different between the two ventricles. Levels of tropomyosin and troponin T were also found to be decreased in response to I/R only in the RV, but not in the LV. Downregulation of the GATA4/Bcl-xL axis and the reduction of tropomyosin and troponin T are RV-specific events that occur in response to stress. This information may be useful for designing RV-specific therapeutic strategies to treat RV failure in pulmonary hypertension patients.","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":"57 1","pages":"39 - 45"},"PeriodicalIF":0.0,"publicationDate":"2016-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80240143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 7

Decreasing HMGB1 levels improves outcome of Pseudomonas aeruginosa keratitis in mice 降低HMGB1水平可改善小鼠铜绿假单胞菌角膜炎的预后

Journal of rare diseases research & treatment Pub Date : 2016-07-18 DOI: 10.29245/2572-9411/2016/1.1015

L. Hazlett, S. Mcclellan, S. Ekanayaka

{"title":"Decreasing HMGB1 levels improves outcome of Pseudomonas aeruginosa keratitis in mice","authors":"L. Hazlett, S. Mcclellan, S. Ekanayaka","doi":"10.29245/2572-9411/2016/1.1015","DOIUrl":"https://doi.org/10.29245/2572-9411/2016/1.1015","url":null,"abstract":"Pseudomonas (P.) aeruginosa is a Gram negative bacterium widely dispersed in the environment which can cause acute and chronic infections in humans. According to the Centers for Disease Control and Prevention (CDC), the overall incidence of P. aeruginosa infections in USA hospitals averages about 0.4% (4/1000 discharges), and the bacterium is the fourth most commonly-isolated nosocomial pathogen accounting for 10.1% of all hospital-acquired infections. P. aeruginosa keratitis is a severe infection of the eye, progresses rapidly and remains a leading cause of corneal ulcers worldwide. Use of contact lenses is the major risk factor in the USA, while in less industrialized countries, trauma from agricultural accidents are of importance. Animal models of bacterial keratitis are of value in the study of this disease and suggest potential alternative therapeutic targets that are needed urgently due to increasing antibiotic resistance. Recently we have shown success and improved disease outcome after down-regulation of one promising target, high mobility group box1 (HMGB1) using small interfering RNA (siRNA). Testing more clinically relevant approaches are underway to reduce HMGB1 levels in P. aeruginosa keratitis which may hold promise for its treatment.","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":"38 1","pages":"36 - 39"},"PeriodicalIF":0.0,"publicationDate":"2016-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79988391","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Commentary: Activin and TGFβ use diverging mitogenic signaling in advanced colon cancer. 评论:激活素和TGFβ在晚期结肠癌中使用分化的有丝分裂信号。

Journal of rare diseases research & treatment Pub Date : 2016-07-01 DOI: 10.29245/2572-9411/2016/1.1013

J. Bauer, Jonas J. Staudacher, N. Krett, B. Jung

引用次数: 3

Decreasing HMGB1 levels improves outcome of Pseudomonas aeruginosa keratitis in mice. 降低HMGB1水平可改善小鼠铜绿假单胞菌角膜炎的预后。

Journal of rare diseases research & treatment Pub Date : 2016-01-01 Epub Date: 2016-07-18

Linda D Hazlett, Sharon A McClellan, Sandamali A Ekanayaka

{"title":"Decreasing HMGB1 levels improves outcome of Pseudomonas aeruginosa keratitis in mice.","authors":"Linda D Hazlett, Sharon A McClellan, Sandamali A Ekanayaka","doi":"","DOIUrl":"","url":null,"abstract":"Pseudomonas (P.) aeruginosa is a Gram negative bacterium widely dispersed in the environment which can cause acute and chronic infections in humans. According to the Centers for Disease Control and Prevention (CDC), the overall incidence of P. aeruginosa infections in USA hospitals averages about 0.4% (4/1000 discharges), and the bacterium is the fourth most commonly-isolated nosocomial pathogen accounting for 10.1% of all hospital-acquired infections. P. aeruginosa keratitis is a severe infection of the eye, progresses rapidly and remains a leading cause of corneal ulcers worldwide. Use of contact lenses is the major risk factor in the USA, while in less industrialized countries, trauma from agricultural accidents are of importance. Animal models of bacterial keratitis are of value in the study of this disease and suggest potential alternative therapeutic targets that are needed urgently due to increasing antibiotic resistance. Recently we have shown success and improved disease outcome after down-regulation of one promising target, high mobility group box1 (HMGB1) using small interfering RNA (siRNA). Testing more clinically relevant approaches are underway to reduce HMGB1 levels in P. aeruginosa keratitis which may hold promise for its treatment.","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":"1 1","pages":"36-39"},"PeriodicalIF":0.0,"publicationDate":"2016-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5784448/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35773738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0