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https://www.readbyqxmd.com/read/28107566/recent-advances-in-understanding-clonal-haematopoiesis-in-aplastic-anaemia
#1
REVIEW
Natasha Stanley, Timothy S Olson, Daria V Babushok
Acquired aplastic anaemia (AA) is an immune-mediated bone marrow failure disorder inextricably linked to clonal haematopoiesis. The majority of AA patients have somatic mutations and/or structural chromosomal abnormalities detected as early as at diagnosis. In contrast to other conditions linked to clonal haematopoiesis, the clonal signature of AA reflects its immune pathophysiology. The most common alterations are clonal expansions of cells lacking glycophosphotidylinositol-anchored proteins, loss of human leucocyte antigen alleles, and mutations in BCOR/BCORL1, ASXL1 and DNMT3A...
January 20, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28107520/pgrmc1-is-a-novel-potential-tumor-biomarker-of-human-renal-cell-carcinoma-based-on-quantitative-proteomic-and-integrative-biological-assessments
#2
Dan Zhang, Xiangying Xia, Xixi Wang, Peng Zhang, Weiliang Lu, Yamei Yu, Shi Deng, Hanshuo Yang, Hongxia Zhu, Ningzhi Xu, Shufang Liang
Progesterone receptor membrane component 1 (PGRMC1) is widely observed with an elevated level in multiple human cancers. However, the roles of PGRMC1 in renal cancer are not clear and merit further study. In this report, we made a systematic, integrative biological assessment for PGRMC1 in renal cell carcinoma (RCC) by a quantitative proteomic identification, immunohistochemical detection, and its clinic pathologic significance analysis. We found that PGRMC1 abundance is increased by 3.91-fold in RCC tissues compared with its autologous para-cancerous tissues by a quantitative proteome identification...
2017: PloS One
https://www.readbyqxmd.com/read/28107158/human-trafficking-in-areas-of-conflict-health-care-professionals-duty-to-act
#3
Christina Bloem, Rikki E Morris, Makini Chisolm-Straker
Given the significant global burden of human trafficking, the ability of clinicians to identify and provide treatment for trafficked persons is critical. Particularly in conflict settings, health care facilities often serve as the first and sometimes only point of contact for trafficked persons. As such, medical practitioners have a unique opportunity and an ethical imperative to intervene, even in nonclinical roles. With proper training, medical practitioners can assist trafficked persons by documenting human trafficking cases, thereby placing pressure on key stakeholders to enforce legal protections, and by providing adequate services to those trafficked...
January 1, 2017: AMA Journal of Ethics
https://www.readbyqxmd.com/read/28107156/mandatory-reporting-of-human-trafficking-potential-benefits-and-risks-of-harm
#4
Abigail English
Human trafficking, including both sex and labor trafficking, has profound consequences for the safety, health, and well-being of victims and survivors. Efforts to address human trafficking through prevention, protection, and prosecution are growing but remain insufficient. Mandatory reporting has the potential to bring victims and survivors to the attention of social service and law enforcement agencies but may discourage trafficked persons from seeking help, thereby limiting the ability of health care professionals to establish trust and provide needed care...
January 1, 2017: AMA Journal of Ethics
https://www.readbyqxmd.com/read/28106810/genetic-aspects-of-susceptibility-to-mercury-toxicity-an-overview
#5
REVIEW
Virginia Andreoli, Francesca Sprovieri
Human exposure to mercury is still a major public health concern. In this context, children have a higher susceptibility to adverse neurological mercury effects, compared to adults with similar exposures. Moreover, there exists a marked variability of personal response to detrimental mercury action, in particular among population groups with significant mercury exposure. New scientific evidence on genetic backgrounds has raised the issue of whether candidate susceptibility genes can make certain individuals more or less vulnerable to mercury toxicity...
January 18, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28105927/candidate-snp-markers-of-aggressiveness-related-complications-and-comorbidities-of-genetic-diseases-are-predicted-by-a-significant-change-in-the-affinity-of-tata-binding-protein-for-human-gene-promoters
#6
Irina V Chadaeva, Mikhail P Ponomarenko, Dmitry A Rasskazov, Ekaterina B Sharypova, Elena V Kashina, Marina Yu Matveeva, Tatjana V Arshinova, Petr M Ponomarenko, Olga V Arkova, Natalia P Bondar, Ludmila K Savinkova, Nikolay A Kolchanov
BACKGROUND: Aggressiveness in humans is a hereditary behavioral trait that mobilizes all systems of the body-first of all, the nervous and endocrine systems, and then the respiratory, vascular, muscular, and others-e.g., for the defense of oneself, children, family, shelter, territory, and other possessions as well as personal interests. The level of aggressiveness of a person determines many other characteristics of quality of life and lifespan, acting as a stress factor. Aggressive behavior depends on many parameters such as age, gender, diseases and treatment, diet, and environmental conditions...
December 28, 2016: BMC Genomics
https://www.readbyqxmd.com/read/28105494/suicide-with-two-makes-of-captive-bolt-guns-livestock-stunners-fired-simultaneously-to-the-forehead
#7
Rebecca Pircher, Dorothee Geisenberger, Markus Große Perdekamp, Merja Neukamm, Stefan Pollak, Ulrike Schmidt, Annette Thierauf-Emberger
In humans, most fatalities from slaughterer's guns are suicides committed by persons familiar with stunning devices. The great majority of cases accounts for shots to the head, especially the frontal region. Only a small number of two subsequent cranial shots from captive-bolt humane killers have been reported up to now. In the case presented by the authors, a suicide by simultaneous shots to the head fired from two different makes of captive-bolt guns (one of them having two separate outlets for the combustion gases in the muzzle plane, the other type having no additional openings) is described for the first time...
January 20, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28104789/a-novel-humanized-mouse-model-of-huntington-disease-for-preclinical-development-of-therapeutics-targeting-mutant-huntingtin-alleles
#8
Amber L Southwell, Niels H Skotte, Erika B Villanueva, Michael E Østergaard, Xiaofeng Gu, Holly B Kordasiewicz, Chris Kay, Daphne Cheung, Yuanyun Xie, Sabine Waltl, Louisa Dal Cengio, Hailey Findlay-Black, Crystal N Doty, Eugenia Petoukhov, Diepiriye Iworima, Ramy Slama, Jolene Ooi, Mahmoud A Pouladi, William X Yang, Eric E Swayze, Punit P Seth, Michael R Hayden
Huntington disease (HD) is a neurodegenerative disease caused by a mutation in the huntingtin (HTT) gene. HTT is a large protein, interacts with many partners and is involved in many cellular pathways, which are perturbed in HD. Therapies targeting HTT directly are likely to provide the most global benefit. Thus there is a need for preclinical models of HD recapitulating human HTT genetics. We previously generated a humanized mouse model of HD, Hu97/18, by intercrossing BACHD and YAC18 mice with knockout of the endogenous mouse HD homolog (Hdh)...
January 18, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28104333/response-of-lemna-gibba-l-to-high-and-environmentally-relevant-concentrations-of-ibuprofen-removal-metabolism-and-morpho-physiological-traits-for-biomonitoring-of-emerging-contaminants
#9
D Di Baccio, F Pietrini, P Bertolotto, S Pérez, D Barcelò, M Zacchini, E Donati
The increasing worldwide consumption of pharmaceuticals and personal care products such as ibuprofen (IBU) is leading to the widespread and persistent occurrence of these chemicals and their transformation products in soils and waters. Although at low concentrations, the continuous discharge of these micropollutants and the incomplete removal by the actual wastewater treatments can provoke accumulation in the environment with risks for the trophic chain. Non-target organisms as duckweed can be used for the environmental monitoring of pharmaceutical emerging contaminants...
January 16, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28103772/induced-pluripotency-and-gene-editing-in-fanconi-anemia
#10
Susana Navarro, Alessandra Giorgetti, Angel Raya, Jakub Tolar
Induced pluripotent stem cells (iPSCs) represent an invaluable tool in a chromosomal instability syndrome such as Fanconi anemia (FA), as they can allow study of the molecular defects underlying this disease. Many other applications, such as its use as a platform to test different methods or compounds, could also be of interest. But the greatest impact of iPSCs may be in bone marrow failure diseases, as iPSCs could represent an unlimited source of autologous cells to apply in advanced treatments such as gene therapy...
January 18, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/28102490/genome-engineering-of-stem-cell-organoids-for-disease-modeling
#11
REVIEW
Yingmin Sun, Qiurong Ding
Precision medicine emerges as a new approach that takes into account individual variability. Successful realization of precision medicine requires disease models that are able to incorporate personalized disease information and recapitulate disease development processes at the molecular, cellular and organ levels. With recent development in stem cell field, a variety of tissue organoids can be derived from patient specific pluripotent stem cells and adult stem cells. In combination with the state-of-the-art genome editing tools, organoids can be further engineered to mimic disease-relevant genetic and epigenetic status of a patient...
January 19, 2017: Protein & Cell
https://www.readbyqxmd.com/read/28100748/independent-neural-computation-of-value-from-other-people-s-confidence
#12
Daniel Campbell-Meiklejohn, Arndis Simonsen, Chris D Frith, Nathaniel D Daw
: Expectation of reward can be shaped by the observation of actions and expressions of other people in one's environment. A person's apparent confidence in the likely reward of an action, for instance, makes qualities of their evidence, not observed directly, socially accessible. This strategy is computationally distinguished from associative learning methods that rely on direct observation, by its use of inference from indirect evidence. In twenty-three healthy human subjects, we isolated effects of first-hand experience, other people's choices, and the mediating effect of their confidence, on decision-making and neural correlates of value within ventromedial prefrontal cortex (vmPFC)...
January 18, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28100739/action-categories-in-lateral-occipitotemporal-cortex-are-organized-along-sociality-and-transitivity
#13
Moritz F Wurm, Alfonso Caramazza, Angelika Lingnau
: How neural specificity for distinct conceptual knowledge categories arises is central for understanding the organization of semantic memory in the human brain. Although there is a large body of research on the neural processing of distinct object categories, the organization of action categories remains largely unknown. In particular, it is unknown whether different action categories follow a specific topographical organization on the cortical surface analogously to the category-specific organization of object knowledge...
January 18, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28100241/personalized-life-expectancy-and-treatment-benefit-index-of-antiretroviral-therapy
#14
Yanni Xiao, Xiaodan Sun, Sanyi Tang, Yicang Zhou, Zhihang Peng, Jianhong Wu, Ning Wang
BACKGROUND: The progression of Human Immunodeficiency Virus (HIV) within host includes typical stages and the Antiretroviral Therapy (ART) is shown to be effective in slowing down this progression. There are great challenges in describing the entire HIV disease progression and evaluating comprehensive effects of ART on life expectancy for HIV infected individuals on ART. METHODS: We develop a novel summative treatment benefit index (TBI), based on an HIV viral dynamics model and linking the infection and viral production rates to the Weibull function...
January 18, 2017: Theoretical Biology & Medical Modelling
https://www.readbyqxmd.com/read/28100080/the-commercialization-of-genome-editing-technologies
#15
Katelyn Brinegar, Ali K Yetisen, Sun Choi, Emily Vallillo, Guillermo U Ruiz-Esparza, Anand M Prabhakar, Ali Khademhosseini, Seok-Hyun Yun
The emergence of new gene-editing technologies is profoundly transforming human therapeutics, agriculture, and industrial biotechnology. Advances in clustered regularly interspaced short palindromic repeats (CRISPR) have created a fertile environment for mass-scale manufacturing of cost-effective products ranging from basic research to translational medicine. In our analyses, we evaluated the patent landscape of gene-editing technologies and found that in comparison to earlier gene-editing techniques, CRISPR has gained significant traction and this has established dominance...
January 18, 2017: Critical Reviews in Biotechnology
https://www.readbyqxmd.com/read/28100040/induced-pluripotent-stem-cell-research-in-the-era-of-precision-medicine
#16
Takashi Hamazaki, Nihal El Rouby, Natalie C Fredette, Katherine E Santostefano, Naohiro Terada
Recent advances in DNA sequencing technologies are revealing how human genetic variations associate with differential health risks, disease susceptibilities and drug responses. Such information is now expected to help evaluate individual health risks, design personalized health plans and treat patients with precision. It is still challenging, however, to understand how such genetic variations cause the phenotypic alterations in pathobiologies and treatment response. Human induced pluripotent stem cell (iPSC) technologies are emerging as a promising strategy to fill the knowledge gaps between genetic association studies and underlying molecular mechanisms...
January 18, 2017: Stem Cells
https://www.readbyqxmd.com/read/28099855/primary-cell-culture-of-live-neurosurgically-resected-aged-adult-human-brain-cells-and-single-cell-transcriptomics
#17
Jennifer M Spaethling, Young-Ji Na, Jaehee Lee, Alexandra V Ulyanova, Gordon H Baltuch, Thomas J Bell, Steven Brem, H Isaac Chen, Hannah Dueck, Stephen A Fisher, Marcela P Garcia, Mugdha Khaladkar, David K Kung, Timothy H Lucas, Donald M O'Rourke, Derek Stefanik, Jinhui Wang, John A Wolf, Tamas Bartfai, M Sean Grady, Jai-Yoon Sul, Junhyong Kim, James H Eberwine
Investigation of human CNS disease and drug effects has been hampered by the lack of a system that enables single-cell analysis of live adult patient brain cells. We developed a culturing system, based on a papain-aided procedure, for resected adult human brain tissue removed during neurosurgery. We performed single-cell transcriptomics on over 300 cells, permitting identification of oligodendrocytes, microglia, neurons, endothelial cells, and astrocytes after 3 weeks in culture. Using deep sequencing, we detected over 12,000 expressed genes, including hundreds of cell-type-enriched mRNAs, lncRNAs and pri-miRNAs...
January 17, 2017: Cell Reports
https://www.readbyqxmd.com/read/28099825/transmission-of-extensively-drug-resistant-tuberculosis-in-south-africa
#18
N Sarita Shah, Sara C Auld, James C M Brust, Barun Mathema, Nazir Ismail, Pravi Moodley, Koleka Mlisana, Salim Allana, Angela Campbell, Thuli Mthiyane, Natashia Morris, Primrose Mpangase, Hermina van der Meulen, Shaheed V Omar, Tyler S Brown, Apurva Narechania, Elena Shaskina, Thandi Kapwata, Barry Kreiswirth, Neel R Gandhi
Background Drug-resistant tuberculosis threatens recent gains in the treatment of tuberculosis and human immunodeficiency virus (HIV) infection worldwide. A widespread epidemic of extensively drug-resistant (XDR) tuberculosis is occurring in South Africa, where cases have increased substantially since 2002. The factors driving this rapid increase have not been fully elucidated, but such knowledge is needed to guide public health interventions. Methods We conducted a prospective study involving 404 participants in KwaZulu-Natal Province, South Africa, with a diagnosis of XDR tuberculosis between 2011 and 2014...
19, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28099714/zika-virus-infection-in-brazil-and-human-rights-obligations
#19
Debora Diniz, Sinara Gumieri, Beatriz Galli Bevilacqua, Rebecca J Cook, Bernard M Dickens
The February 2016 WHO declaration that congenital Zika virus syndrome constitutes a Public Health Emergency of International Concern reacted to the outbreak of the syndrome in Brazil. Public health emergencies can justify a spectrum of human rights responses, but in Brazil, the emergency exposed prevailing inequities in the national healthcare system. The government's urging to contain the syndrome, which is associated with microcephaly among newborns, is confounded by lack of reproductive health services. Women with low incomes in particular have little access to such health services...
January 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28098981/comparing-ion-exchange-adsorbents-for-nitrogen-recovery-from-source-separated-urine
#20
William A Tarpeh, Kai M Udert, Kara L Nelson
Separate collection of urine, which is only 1% of wastewater volume but contains the majority of nitrogen humans excrete, can potentially reduce the costs and energy input of wastewater treatment and facilitate recovery of nitrogen for beneficial use. Ion exchange was investigated for recovery of nitrogen as ammonium from urine for use as a fertilizer or disinfectant. Cation adsorption curves for four adsorbents (clinoptilolite, biochar, Dowex 50, and Dowex Mac 3) were compared in pure salt solutions, synthetic urine, and real stored urine...
January 18, 2017: Environmental Science & Technology
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