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https://www.readbyqxmd.com/read/29932012/choroideremia-molecular-mechanisms-and-development-of-aav-gene-therapy
#1
Maria I Patrício, Alun R Barnard, Kanmin Xue, Robert E MacLaren
INTRODUCTION: Choroideremia is an X-linked inherited retinal degeneration that causes blindness in afflicted males by middle age. The causative gene, CHM, plays a key role in intracellular trafficking pathways, and its disruption impairs cell homeostasis. Areas covered: The mechanism by which mutations in CHM cause choroideremia is still under debate. Here we describe the molecular defects in choroideremia cells regarding both the deficiency of prenylation and the involvement of Rab GTPases...
June 22, 2018: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/29921675/comparison-of-the-efficacy-and-acceptability-of-chinese-herbal-medicine-in-adult-patients-with-heart-failure-and-reduced-ejection-fraction-study-protocol-for-a-systematic-review-and-network-meta-analysis
#2
Jing Liu, Jin-Jin Lu, Kun Zhou, Jie Wan, Yan Li, Xiao-Yun Cui, Qun Gao, Yan-Chao Huang, Si-Nai Li, Qiao-Zhi Dong, Qian Lin
INTRODUCTION: Heart failure with reduced ejection fraction (HFrEF) is defined as the clinical diagnosis of heart failure (HF) and ejection fraction (EF) ≤40%, which is a severe public healthcare issue and brings a heavy social and economic burden for patients with HFrEF. Chinese herbal medicine (CHM) has a long history in treating HF. Questions concerning the efficacy and acceptability of CHM-related interventions in adult patients with HFrEF led us to use the method of systematic review and network meta-analysis to integrate direct and indirect evidence to create hierarchies for all CHM...
June 19, 2018: BMJ Open
https://www.readbyqxmd.com/read/29904999/p57-kip-2-immunostaining-for-diagnosis-of-hydatidiform-mole
#3
B Kaur, N J Sebire
Accurate diagnosis and sub-classification of hydatidiform moles (HM) and distinction from non-molar (NM) gestations is important, since risk of persistent gestational trophoblastic disease (pGTD) and therefore clinical management differ. P57KIP 2 immunostaining has been widely described as an ancillary test to distinguish complete (CHM) and partial (PHM) hydatidiform moles, but cannot discern PHM from non-molar gestations (NM) or identify androgenetic vs biparental CHM, which may be associated with increased recurrence risk...
June 15, 2018: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29901610/chinese-herbal-medicine-for-the-treatment-of-henoch-sch%C3%A3-nlein-purpura-nephritis-in-children-a-prospective-cohort-study-protocol
#4
Jun Zhang, Jing Lv, Shuang Pang, Xiaohong Bai, Fang Yuan, Yubin Wu, Hong Jiang, Guanqi Yang, Shaoqing Zhang
INTRODUCTION: Henoch-Schönlein purpura nephritis (HSPN) involves the renal impairment of Henoch-Schönlein purpura and can easily relapse into life-threatening late nephropathy in severe cases. Although there is a lack of validated evidence for its effectiveness, Chinese herbal medicine (CHM) is one of the most commonly used methods in China to treat HSPN. It is thus need to report the protocol of a prospective cohort trial using CHM to investigate the effectiveness, safety and advantages for children with HSPN...
June 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29900297/in-silico-data-analyses-of-the-hotspot-mutations-of-chm-gene-in-choroideremia-disease
#5
Saber Imani, Iqra Ijaz, Marzieh Dehghan Shasaltaneh, Shangyi Fu, Jingliang Cheng, Junjiang Fu
This data article provides compelling computational analysis of the hotspot CHM gene mutations that contribute to the progressive causativeness and susceptibility of Choroideremia in patients. We performed structural and molecular dynamics (MD) simulation analysis on abnormal states of the CHM protein caused by deleterious and disease-causing hotspot mutant forms of CHM: S89C, E177K, and V529H. Within 40 ns, MD simulation time composed of the E177K mutant shows conformational alteration especially in several parts of the variant...
June 2018: Data in Brief
https://www.readbyqxmd.com/read/29900196/the-role-of-gender-on-academic-performance-in-stem-related-disciplines-data-from-a-tertiary-institution
#6
Temitope M John, Joke A Badejo, Segun I Popoola, David O Omole, Jonathan A Odukoya, Priscilla O Ajayi, Mary Aboyade, Aderemi A Atayero
This data article presents data of academic performances of undergraduate students in Science, Technology, Engineering and Mathematics (STEM) disciplines in Covenant University, Nigeria. The data shows academic performances of Male and Female students who graduated from 2010 to 2014. The total population of samples in the observation is 3046 undergraduates mined from Biochemistry (BCH), Building technology (BLD), Computer Engineering (CEN), Chemical Engineering (CHE), Industrial Chemistry (CHM), Computer Science (CIS), Civil Engineering (CVE), Electrical and Electronics Engineering (EEE), Information and Communication Engineering (ICE), Mathematics (MAT), Microbiology (MCB), Mechanical Engineering (MCE), Management and Information System (MIS), Petroleum Engineering (PET), Industrial Physics-Electronics and IT Applications (PHYE), Industrial Physics-Applied Geophysics (PHYG) and Industrial Physics-Renewable Energy (PHYR)...
June 2018: Data in Brief
https://www.readbyqxmd.com/read/29871871/physiological-evaluation-of-the-behavior-and-epidermis-of-freshwater-planarians-girardia-tigrina-and-girardia-sp-exposed-to-stressors
#7
Matheus Salgado de Oliveira, Karla Andressa Ruiz Lopes, Priscila Maria Sarmeiro Corrêa Marciano Leite, Flavia Villaça Morais, Nádia Maria Rodrigues de Campos Velho
Planarians are metazoan freshwater flatworms which are free-living organisms. Their body has pluripotent stem cell promoters of tissue regeneration capacity. The water temperature and the potential of hydrogen (pH) of lentic ecosystems are important factors involved in the distribution and abundance of these animals. Although the pH factor is directly related to the physiology and behavior of planarians, their adaptive and regenerating capacities still remain unknown. The Critical Thermal Maximum (CTM) is a very widespread method used in the evaluation of thermal tolerance...
June 5, 2018: Biology Open
https://www.readbyqxmd.com/read/29844446/the-effect-of-ptc124-on-choroideremia-fibroblasts-and-ipsc-derived-rpe-raises-considerations-for-therapy
#8
Simona Torriano, Nejla Erkilic, David Baux, Nicolas Cereso, Valerie De Luca, Isabelle Meunier, Mariya Moosajee, Anne-Francoise Roux, Christian P Hamel, Vasiliki Kalatzis
Inherited retinal dystrophies (IRDs) are caused by mutations in over 200 genes, resulting in a range of therapeutic options. Translational read-through inducing drugs (TRIDs) offer the possibility of treating multiple IRDs regardless of the causative gene. TRIDs promote ribosomal misreading of premature stop codons, which results in the incorporation of a near-cognate amino acid to produce a full-length protein. The IRD choroideremia (CHM) is a pertinent candidate for TRID therapy, as nonsense variants cause 30% of cases...
May 29, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29796607/cardiovascular-risk-factors-and-frailty-in-a-cross-sectional-study-of-older-people-implications-for-prevention
#9
Tsz Yan Wong, M Sofia Massa, Aisling M O'Halloran, Rose Ann Kenny, Robert Clarke
Objective: to examine the associations of cardiovascular disease (CVD) and cardiovascular risk factors with frailty. Design: a cross-sectional study. Setting: the Irish Longitudinal Study on Ageing (TILDA). Participants: frailty measures were obtained on 5,618 participants and a subset of 4,330 participants with no prior history of CVD. Exposures for observational study: cardiovascular risk factors were combined in three composite CVD risk scores (Systematic Coronary Risk Evaluation [SCORE], Ideal Cardiovascular Health [ICH] and Cardiovascular Health Metrics [CHM])...
May 22, 2018: Age and Ageing
https://www.readbyqxmd.com/read/29793474/are-michigan-state-university-medical-school-msu-chm-alumni-more-likely-to-practice-in-the-region-of-their-graduate-medical-education-primary-care-program-compared-to-non-msu-chm-alumni
#10
Richard Switzer, Luke VandeZande, Alan T Davis, Tracy J Koehler
BACKGROUND: Over the past 10 years, three new MD schools have been created in the state of Michigan, while the Michigan State University College of Human Medicine (MSU-CHM) has increased their class size to 850 students. The aim of this study was to determine if MSU-CHM alumni who graduate from an MSU-affiliated primary care residency from a single graduate medical education (GME) training program in Michigan are more likely to go on to practice in close proximity to the location of their training program immediately after graduation compared to non MSU-CHM alumni...
May 24, 2018: BMC Medical Education
https://www.readbyqxmd.com/read/29782064/accuracy-of-p57-kip-2-compared-with-genotyping-to-diagnose-complete-hydatidiform-mole-a-systematic-review-and-meta-analysis
#11
José Mauro Madi, Antonio Braga, Machline Paim Paganella, Isnard Elman Litvin, Eliana Márcia Wendland
BACK GROUND: Distinguishing hydatidiform moles (HMs) from non-molar specimens and the sub-classification of HM are important because complete hydatidiform mole (CHM) is associated with an increased risk of development of gestational trophoblastic neoplasia. However, diagnosis based solely on morphology has poor interobserver reproducibility. Recent studies have demonstrated that the use of p57KIP 2 immunostaining improves diagnostic accuracy for CHM. OBJECTIVES: To evaluate the accuracy of p57KIP 2 immunostaining compared with molecular genotyping for the diagnosis of CHM...
May 21, 2018: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29775121/a-cohort-study-to-examine-the-use-of-chinese-herbal-medicine-in-combination-with-conventional-therapies-for-patients-with-hepatocellular-carcinoma-in-china
#12
Lingling Sun, Paul Fahey, Xiaoshu Zhu, Weng Ng, Zhuo Ping Chen, Yiwen Qiu, Hezheng Lai, Jietao Lin, Lizhu Lin
BACKGROUND: Hepatocellular carcinoma (HCC) is one of the major malignancies associated with high mortality rates. Chinese herbal medicine (CHM) alone, or in combination with conventional therapies (CT), has been widely used for patients with HCC in China. This study aims to explore how integrative therapy (IT) through the combination of CHM and CT affects the survival of patients with intermediate-advanced HCC. METHODS: A retrospective cohort study was performed at the First Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, China...
May 1, 2018: Integrative Cancer Therapies
https://www.readbyqxmd.com/read/29740162/molecular-targets-of-chinese-herbs-a-clinical-study-of-metastatic-colorectal-cancer-based-on-network-pharmacology
#13
Hongxu Zhu, Jian Hao, Yangyang Niu, Dan Liu, Dan Chen, Xiongzhi Wu
Increasing evidence has shown that Chinese herbal medicine (CHM) has promising therapeutic effects in colorectal cancer (CRC); however, the active ingredients and potential targets remain unclear. In this study, we aimed to investigate the relative molecular targets of the Chinese herbs that have been found effective in treating metastatic CRC (mCRC) based on clinical data and network pharmacology. In multivariate analysis CHM resulted an independent prognostic factor. The hazard ratio was 0.103 (95% confidence interval = 0...
May 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29732374/chinese-herbal-medicine-as-a-potential-treatment-of-abdominal-aortic-aneurysm
#14
Sai Wang Seto, Dennis Chang, Hosen Kiat, Ning Wang, Alan Bensoussan
Abdominal aortic aneurysm (AAA) is an irreversible condition where the abdominal aorta is dilated leading to potentially fatal consequence of aortic rupture. Multiple mechanisms are involved in the development and progression of AAA, including chronic inflammation, oxidative stress, vascular smooth muscle (VSMC) apoptosis, immune cell infiltration and extracellular matrix (ECM) degradation. Currently surgical therapies, including minimally invasive endovascular aneurysm repair (EVAR), are the only viable interventions for AAAs...
2018: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/29722888/applying-graph-theory-to-protein-structures-an-atlas-of-coiled-coils
#15
Jack W Heal, Gail J Bartlett, Christopher W Wood, Andrew R Thomson, Derek N Woolfson
Motivation: To understand protein structure, folding and function fully and to design proteins de novo reliably, we must learn from natural protein structures that have been characterised experimentally. The number of protein structures available is large and growing exponentially, which makes this task challenging. Indeed, computational resources are becoming increasingly important for classifying and analysing this resource. Here, we use tools from graph theory to define an atlas classification scheme for automatically categorising certain protein substructures...
May 2, 2018: Bioinformatics
https://www.readbyqxmd.com/read/29721948/identification-of-novel-deletions-as-the-underlying-cause-of-retinal-degeneration-in-two-pedigrees
#16
Kari Branham, Aditya A Guru, Igor Kozak, Pooja Biswas, Mohammad Othman, Kameron Kishaba, Hassan Mansoor, Sheikh Riazuddin, John R Heckenlively, S Amer Riazuddin, J Fielding Hejtmancik, Paul A Sieving, Radha Ayyagari
Retinal dystrophies are a phenotypically and genetically complex group of conditions. Because of this complexity, it can be challenging in many families to determine the inheritance based on pedigree analysis alone. Clinical examinations were performed and blood samples were collected from a North American (M1186) and a consanguineous Pakistani (PKRD168) pedigree affected with two different retinal dystrophies (RD). Based on the structure of the pedigrees, inheritance patterns in the families were difficult to determine...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29721931/antisense-oligonucleotide-based-splice-correction-of-a-deep-intronic-mutation-in-chm-underlying-choroideremia
#17
Alejandro Garanto, Saskia D van der Velde-Visser, Frans P M Cremers, Rob W J Collin
Choroideremia is a progressive genetic eye disorder caused by mutations in the CHM gene that encodes the Rab escort protein-1 (REP-1). One of the many CHM mutations described so far is a deep-intronic variant, c.315-4587T>A, that creates a novel splice acceptor site resulting in the insertion of a 98-bp pseudoexon in the CHM transcript. Antisense oligonucleotides (AONs) are a potential therapeutic tool for correcting splice defects, as they have the properties to bind to the pre-mRNA and redirect the splicing process...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29719600/chinese-herbal-medicine-therapy-and-the-risk-of-mortality-for-chronic-hepatitis-b-patients-with-concurrent-liver-cirrhosis-a-nationwide-population-based-cohort-study
#18
Tzung-Yi Tsai, Tsung-Hsing Hung, Hanoch Livneh, I-Hsin Lin, Ming-Chi Lu, Chia-Chou Yeh
Chronic hepatitis B (CHB) is increasingly recognized as a public health problem in Taiwan. After affected patients are diagnosed with contaminant liver cirrhosis (LC), adverse clinical outcomes, especially death, are common. This study aimed to investigate the effect of Chinese herbal medicine (CHM), an essential branch of Traditional Chinese medicine (TCM), on the mortality risk among CHB patients with contaminant LC. This longitudinal cohort study used the Taiwanese National Health Insurance Research Database to identify 1522 patients 20-70 years of age with newly diagnosed CHB with LC during 1998-2007...
April 6, 2018: Oncotarget
https://www.readbyqxmd.com/read/29707603/the-biological-activity-of-aav-vectors-for-choroideremia-gene-therapy-can-be-measured-by-in-vitro-prenylation-of-rab6a
#19
Maria I Patrício, Alun R Barnard, Christopher I Cox, Clare Blue, Robert E MacLaren
Choroideremia (CHM) is a rare, X-linked recessive retinal dystrophy caused by mutations in the CHM gene. CHM is ubiquitously expressed in human cells and encodes Rab escort protein 1 (REP1). REP1 plays a key role in intracellular trafficking through the prenylation of Rab GTPases, a reaction that can be reproduced in vitro . With recent advances in adeno-associated virus (AAV) gene therapy for CHM showing gene replacement to be a promising approach, an assay to assess the biological activity of the vectors is of the uttermost importance...
June 15, 2018: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/29702467/trained-immunity-as-a-novel-therapeutic-strategy
#20
REVIEW
Vera P Mourits, Jac Chm Wijkmans, Leo Ab Joosten, Mihai G Netea
Recent studies have shown that upon certain vaccinations or infections human innate immune cells can undergo extensive metabolic and epigenetic reprogramming, which results in enhanced immune responses upon heterologous re-infection, a process termed trained immunity. Trained immunity has also been shown to be inappropriately activated in inflammatory diseases. This provides the potential for identifying novel therapeutic targets: potentiation of trained immunity could protect from secondary infections and reverse immunotolerant states, while inhibition of trained immunity might reduce excessive immune activation in chronic inflammatory conditions...
April 24, 2018: Current Opinion in Pharmacology
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