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https://www.readbyqxmd.com/read/28055019/rep1-inhibits-foxo3-mediated-apoptosis-to-promote-cancer-cell-survival
#1
Kwon-Ho Song, Seon Rang Woo, Joon-Yong Chung, Hyo-Jung Lee, Se Jin Oh, Soon-Oh Hong, Jaegal Shim, Yong Nyun Kim, Seung Bae Rho, Seung-Mo Hong, Hanbyoul Cho, Masahiko Hibi, Dong-Jun Bae, Sang-Yeob Kim, Min Gyu Kim, Tae Woo Kim, Young-Ki Bae
Rab escort protein 1 (REP1) is a component of Rab geranyl-geranyl transferase 2 complex. Mutations in REP1 cause a disease called choroideremia (CHM), which is an X-linked eye disease. Although it is postulated that REP1 has functions in cell survival or death of various tissues in addition to the eye, how REP1 functions in normal and cancer cells remains to be elucidated. Here, we demonstrated that REP1 is required for the survival of intestinal cells in addition to eyes or a variety of cells in zebrafish, and also has important roles in tumorigenesis...
January 5, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28041643/comprehensive-rare-variant-analysis-via-whole-genome-sequencing-to-determine-the-molecular-pathology-of-inherited-retinal-disease
#2
Keren J Carss, Gavin Arno, Marie Erwood, Jonathan Stephens, Alba Sanchis-Juan, Sarah Hull, Karyn Megy, Detelina Grozeva, Eleanor Dewhurst, Samantha Malka, Vincent Plagnol, Christopher Penkett, Kathleen Stirrups, Roberta Rizzo, Genevieve Wright, Dragana Josifova, Maria Bitner-Glindzicz, Richard H Scott, Emma Clement, Louise Allen, Ruth Armstrong, Angela F Brady, Jenny Carmichael, Manali Chitre, Robert H H Henderson, Jane Hurst, Robert E MacLaren, Elaine Murphy, Joan Paterson, Elisabeth Rosser, Dorothy A Thompson, Emma Wakeling, Willem H Ouwehand, Michel Michaelides, Anthony T Moore, Andrew R Webster, F Lucy Raymond
Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or both (n = 45) performed, as part of the NIHR-BioResource Rare Diseases research study. We identified pathogenic variants (single-nucleotide variants, indels, or structural variants) for 404/722 (56%) individuals. Whole-genome sequencing gives unprecedented power to detect three categories of pathogenic variants in particular: structural variants, variants in GC-rich regions, which have significantly improved coverage compared to whole-exome sequencing, and variants in non-coding regulatory regions...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28009400/optical-coherence-tomography-imaging-in-the-management-of-the-argus-ii-retinal-prosthesis-system
#3
Francesco Parmeggiani, Katia De Nadai, Angela Piovan, Andrea Binotto, Sara Zamengo, Marzio Chizzolini
PURPOSE: To report a real-life experience with the Argus II retinal prosthesis system in blind patients with end-stage retinitis pigmentosa (RP) or choroideremia (CHM), focusing on the pivotal role of optical coherence tomography (OCT) in both preoperative and postoperative management. METHODS: This hospital-based case series included 3 blind patients who were uneventfully implanted with Argus II epiretinal device. These patients (2 with RP and 1 with CHM) were selected during the Argus™ II Retinal Prosthesis System PostMarket Surveillance Study Protocol...
November 25, 2016: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28000097/an-overview-of-epigenetics-in-chinese-medicine-researches
#4
REVIEW
Xue-Qing Hu, Shi-Bing Su
Chinese medicine (CM) has contributed to human health care for several thousand years and is still popular in Asian countries. But the mechanisms underlying CM remain obscure, and need to be clarified by modern biological subjects and methods. Recently, CM researches on epigenetics have gained obvious improvement following rapidly developed molecular technologies. In this review, we revealed mutual characteristics of epigenetics and CM, such as holism, yin-yang dynamic nature, reversibility and balance, and visceral manifestation...
December 20, 2016: Chinese Journal of Integrative Medicine
https://www.readbyqxmd.com/read/27989877/chinese-herbal-medicine-fuzheng-kang-ai-decoction-sensitized-the-effect-of-gefitinib-on-inhibition-of-human-lung-cancer-cells-through-inactivating-pi3-k-akt-mediated-suppressing-muc1-expression
#5
Longmei Li, SuMei Wang, Fang Zheng, WanYin Wu, Swei Sunny Hann
ETHNOPHARMACOLOGICAL RELEVANCE: Chinese herbal medicine (CHM) Fuzheng Kang-Ai (FZKA for short) decoction has been used as adjuvant treatment strategies in lung cancer patients for decades. However, the molecular mechanism underlying the therapeutic potential especially in sensitizing the effect of EGFR-TKI gefitinib has not been well elucidated. MATERIALS AND METHODS: Cell viability was detected by MTT assay. Cell cycle distribution was detected by flow cytometry...
October 28, 2016: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/27986385/natural-history-of-the-central-structural-abnormalities-in-choroideremia-a-prospective-cross-sectional-study
#6
Tomas S Aleman, Grace Han, Leona W Serrano, Nicole M Fuerst, Emily S Charlson, Denise J Pearson, Daniel C Chung, Anastasia Traband, Wei Pan, Gui-Shuang Ying, Jean Bennett, Albert M Maguire, Jessica I W Morgan
PURPOSE: To describe in detail the central retinal structure of a large group of patients with choroideremia (CHM). DESIGN: A prospective, cross-sectional, descriptive study. PARTICIPANTS: Patients (n = 97, age 6-71 years) with CHM and subjects with normal vision (n = 44; ages 10-50 years) were included. METHODS: Subjects were examined with spectral-domain optical coherence tomography (SD OCT) and near-infrared reflectance imaging...
December 13, 2016: Ophthalmology
https://www.readbyqxmd.com/read/27951686/deformation-of-surface-nanobubbles-induced-by-substrate-hydrophobicity
#7
Jiachen Wei, Xianren Zhang, Fan Song
Recent experimental measurements have shown that there exists a population of nanobubbles with different curvature radii, whereas both computer simulations and theoretical analysis indicated that the curvature radii of different nanobubbles should be the same at a given supersaturation. To resolve such inconsistency, we perform molecular dynamics simulations on surface nanobubbles that are stabilized by heterogeneous substrates either in the geometrical heterogeneity model (GHM) or in the chemical heterogeneity model (CHM) and propose that the inconsistency could be ascribed to the substrate-induced nanobubble deformation...
December 13, 2016: Langmuir: the ACS Journal of Surfaces and Colloids
https://www.readbyqxmd.com/read/27936069/multimodal-imaging-of-photoreceptor-structure-in-choroideremia
#8
Lynn W Sun, Ryan D Johnson, Vesper Williams, Phyllis Summerfelt, Alfredo Dubra, David V Weinberg, Kimberly E Stepien, Gerald A Fishman, Joseph Carroll
PURPOSE: Choroideremia is a progressive X-linked recessive dystrophy, characterized by degeneration of the retinal pigment epithelium (RPE), choroid, choriocapillaris, and photoreceptors. We examined photoreceptor structure in a series of subjects with choroideremia with particular attention to areas bordering atrophic lesions. METHODS: Twelve males with clinically-diagnosed choroideremia and confirmed hemizygous mutations in the CHM gene were examined. High-resolution images of the retina were obtained using spectral domain optical coherence tomography (SD-OCT) and both confocal and non-confocal split-detector adaptive optics scanning light ophthalmoscope (AOSLO) techniques...
2016: PloS One
https://www.readbyqxmd.com/read/27932913/lifewatchgreece-portal-development-architecture-implementation-and-challenges-for-a-biodiversity-research-e-infrastructure
#9
Alexandros Gougousis, Nicolas Bailly
BACKGROUND: Biodiversity data is characterized by its cross-disciplinary character, the extremely broad range of data types and structures, and the plethora of different data sources providing resources for the same piece of information in a heterogeneous way. Since the web inception two decades ago, there are multiple initiatives to connect, aggregate, share, and publish biodiversity data, and to establish data and work flows in order to analyze them. The European program LifeWatch aims at establishing a distributed network of nodes implementing virtual research environment in Europe to facilitate the work of biodiversity researchers and managers...
2016: Biodiversity Data Journal
https://www.readbyqxmd.com/read/27932514/long-term-therapy-with-wu-ling-san-a-popular-antilithic-chinese-herbal-formula-did-not-prevent-subsequent-stone-surgery-a-nationwide-population-based-cohort-study
#10
San-Yuan Wu, Huey-Yi Chen, Kao-Sung Tsai, Jen-Huai Chiang, Chih-Hsin Muo, Fung-Chang Sung, Yung-Hsiang Chen, Wen-Chi Chen
Traditional Chinese herbal medicine (CHM), which is widely used to treat pain and urolithiasis, is a promising therapy for urinary stone prevention. This study investigated the clinical efficacy of a popular CHM, Wu-Ling-San (WLS), in Taiwan for the prophylaxis of recurrent nephrolithiasis as assessed by surgical stone treatment via a nationwide population-based cohort study. The National Health Insurance Research Database, 2000-2010, which included one million patient records. All patients diagnosed with stone disease at the beginning of the study...
2016: Inquiry: a Journal of Medical Care Organization, Provision and Financing
https://www.readbyqxmd.com/read/27915077/how-do-government-regulations-influence-the-ability-to-practice-chinese-herbal-medicine-in-western-countries
#11
Tom Fleischer, Yi-Chang Su, Sunny Jui-Shan Lin
ETHNOPHARMACOLOGICAL RELEVANCE: The regulation policies of substances used in Chinese Herbal Medicine (CHM), have a direct influence on the ability of health providers to practice in the clinic. AIM OF THE STUDY: We set out to assess the truth behind the assumption that practice of CHM in the west is constrained by the regulations imposed by authorities in western countries. MATERIALS AND METHODS: For the first part of our study we surveyed and compiled lists of banned and restricted Chinese Materia Medica (CMM) from six countries: USA, UK, Germany, Israel, Canada and Australia...
November 30, 2016: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/27912961/the-effect-of-chinese-herbal-medicine-on-hemorrhagic-shock-a-systematic-review-and-meta-analysis
#12
REVIEW
Da-Long Wang, Xiao-Guang Lu, Wen-Xiu Guo, Tuo Chen, Yi Song, Zhi-Wei Fan
BACKGROUND: Chinese herbal medicine (CHM) has been widely used in the treatment of hemorrhagic shock (HS) in China. Many controlled trials have been undertaken to investigate its efficacy. OBJECTIVE: To evaluate the effectiveness and safety of CHM for Hemorrhagic Shock patients. METHODS: We screening the Web of ScienceDirect database, PubMed, the Cochrane Library, EMBASE, China Biomedical Database web (CBM), China National Knowledge Infrastructure (CNKI) and WanFang database (WF), from inception to January 2015...
December 2016: Complementary Therapies in Medicine
https://www.readbyqxmd.com/read/27889382/rare-and-common-variants-at-16p11-2-are-associated-with-schizophrenia
#13
Hong Chang, Lingyi Li, Ming Li, Xiao Xiao
Recent studies suggest that both common and rare variants are involved in the genetic risk of schizophrenia. Using a Cochran-Mantel-Haenszel (CMH) adjusted meta-analysis in 36,676 schizophrenia patients and 48,331 healthy controls from 24 independent samples, we identify the microduplications at 16p11.2 locus (29.6-30.2Mb, hg19) to be strongly associated with the illness (P value<2.2×10(-16), CHM-adjusted OR=10.79). The frequency of this microduplication is significantly higher in schizophrenia patients (0...
November 23, 2016: Schizophrenia Research
https://www.readbyqxmd.com/read/27857244/a-pioneer-paediatrician-in-new-zealand-geoffrey-bruton-sweet-1-9-1870-17-5-1939-mb-chm-sydney-1893
#14
William J Sugrue, Patricia M Clarkson
Paediatrics as a specialty was slow to emerge in New Zealand where Geoffrey Bruton Sweet was a pioneer full-time paediatrician from 1907 to 1939. Although there had been appointments as paediatric lecturers to the Otago Medical School, the early appointees were not restricted to paediatric practice. Dr Sweet, an Australian graduate, came to New Zealand and made a major contribution to the development of pathology services before embarking on a career devoted to paediatrics. He was a powerful advocate for children, well read and interested in clinical research, and realised the need to communicate with those directly involved in the care of children...
November 18, 2016: New Zealand Medical Journal
https://www.readbyqxmd.com/read/27848250/pharmacological-effects-of-active-components-of-chinese-herbal-medicine-in-the-treatment-of-alzheimer-s-disease-a-review
#15
Zhi-Yong Wang, Jian-Gang Liu, Hao Li, Hui-Ming Yang
Alzheimer's disease (AD), the most common neurodegenerative disorder associated with dementia, not only severely decreases the quality of life for its victims, but also brings a heavy economic burden to the family and society. Unfortunately, few chemical drugs designed for clinical applications have reached the expected preventive or therapeutic effect so far, and combined with their significant side-effects, there is therefore an urgent need for new strategies to be developed for AD treatment. Traditional Chinese Medicine has accumulated many experiences in the treatment of dementia during thousands of years of practice; modern pharmacological studies have confirmed the therapeutic effects of many active components derived from Chinese herbal medicines (CHM)...
2016: American Journal of Chinese Medicine
https://www.readbyqxmd.com/read/27820636/the-spectrum-of-chm-gene-mutations-in-choroideremia-and-their-relationship-to-clinical-phenotype
#16
Matthew P Simunovic, Jasleen K Jolly, Kanmin Xue, Thomas L Edwards, Markus Groppe, Susan M Downes, Robert E MacLaren
Purpose: We report the underlying genotype and explore possible genotypic-phenotypic correlations in a large cohort of choroideremia patients. Methods: We studied prospectively a cohort of 79 patients diagnosed within a tertiary referral service for patients with retinal dystrophies. Phenotypic evaluation consisted of clinical examination, including visual acuity and residual retinal area by fundus autofluorescence (FAF). Genotype was established by sequencing. We also investigated whether particular genotypes were associated with more severe phenotypes by performing analysis of covariance (ANCOVA), with visual acuity and FAF as the dependent variables and age as the covariant...
November 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27774897/the-role-of-biologically-active-ingredients-from-chinese-herbal-medicines-in-the-regulation-of-autophagy-in-treating-cardiovascular-diseases-and-other-chronic-diseases
#17
Jie Li, Yonghong Gao, Xiaomeng Ren, Yanda Li, Lijun Wu, Xinyu Yang, Jie Wang, Hongcai Shang, Xingjiang Xiong, Yanwei Xing
Autophagy, a highly conserved starvation response mechanism with both defensive and protective effects in eukaryotic cells, is a lysosome-mediated degradation process for non-essential or damaged cellular constituents. It plays an important role in the cell survival, differentiation and development to maintain homeostasis. Autophagy is involved in cardiovascular diseases, cerebrovascular diseases, and neurodegenerative disease, as well as tumours. Thus, modulating autophagy may provide potential therapeutic strategies...
October 21, 2016: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/27774110/chinese-herbal-medicine-for-postpartum-depression-a-systematic-review-of-randomized-controlled-trials
#18
REVIEW
Yongle Li, Zijie Chen, Ning Yu, Keyu Yao, Yiwen Che, Yupeng Xi, Shuangqing Zhai
Background. Postpartum depression (PPD) does great harm to women following childbirth. The aim of this study was to conduct a systematic review of the literature to assess the efficacy and safety of CHM for the treatment of PPD. Methods. Published or ongoing registered trials were searched for from the inception of the various databases to December 31, 2015. Data extraction and methodology assessment were conducted independently by two researchers. RevMan 5.3 software was used to analyze the data. Results. Forty-seven registered clinical trials (RCTs) were identified and reviewed...
2016: Evidence-based Complementary and Alternative Medicine: ECAM
https://www.readbyqxmd.com/read/27753762/clinical-progress-in-inherited-retinal-degenerations-gene-therapy-clinical-trials-and-advances-in-genetic-sequencing
#19
Brian P Hafler
PURPOSE: Inherited retinal dystrophies are a significant cause of vision loss and are characterized by the loss of photoreceptors and the retinal pigment epithelium (RPE). Mutations in approximately 250 genes cause inherited retinal degenerations with a high degree of genetic heterogeneity. New techniques in next-generation sequencing are allowing the comprehensive analysis of all retinal disease genes thus changing the approach to the molecular diagnosis of inherited retinal dystrophies...
October 6, 2016: Retina
https://www.readbyqxmd.com/read/27750291/a-qualitative-and-quantitative-assessment-of-fundus-autofluorescence-patterns-in-patients-with-choroideremia
#20
Jasleen K Jolly, Thomas L Edwards, Jonathan Moules, Markus Groppe, Susan M Downes, Robert E MacLaren
Purpose: We set out to characterize the pattern of fundus autofluorescence (AF) loss in choroideremia (CHM) patients of varying ages and disease severity in order to determine the average rate of progression of this potential disease biomarker. Methods: Fifty consecutive CHM patients (100 eyes) attending outpatient clinics at Oxford Eye Hospital underwent analysis with the Heidelberg OCT Spectralis with autofluorescence capabilities. The area of residual AF was traced using Heidelberg Eye Explorer...
August 1, 2016: Investigative Ophthalmology & Visual Science
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