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https://www.readbyqxmd.com/read/28524769/machine-learning-for-epigenetics-and-future-medical-applications
#1
Lawrence B Holder, M Muksitul Haque, Michael K Skinner
Understanding epigenetic processes holds immense promise for medical applications. Advances in Machine Learning (ML) are critical to realize this promise. Previous studies used epigenetic data sets associated with the germline transmission of epigenetic transgenerational inheritance of disease and novel ML approaches to predict genome-wide locations of critical epimutations. A combination of Active Learning (ACL) and Imbalanced Class Learning (ICL) was used to address past problems with ML to develop a more efficient feature selection process and address the imbalance problem in all genomic data sets...
May 19, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28524095/pkc-in-regenerative-therapy-new-insights-for-old-targets
#2
REVIEW
Marta Rui, Rita Nasti, Emanuele Bignardi, Serena Della Volpe, Giacomo Rossino, Daniela Rossi, Simona Collina
Effective therapies for chronic or non-healing wounds are still lacking. These tissue insults often result in severe clinical complications (i.e., infections and/or amputation) and sometimes lead to patient death. Accordingly, several research groups have focused their efforts in finding innovative and powerful therapeutic strategies to overcome these issues. On the basis of these considerations, the comprehension of the molecular cascades behind these pathological conditions could allow the identification of molecules against chronic wounds...
May 18, 2017: Pharmaceuticals
https://www.readbyqxmd.com/read/28523274/identification-of-braf-positive-cases-based-on-whole-slide-image-analysis
#3
Vlad Popovici, Aleš Křenek, Eva Budinská
A key requirement for precision medicine is the accurate identification of patients that would respond to a specific treatment or those that represent a high-risk group, and a plethora of molecular biomarkers have been proposed for this purpose during the last decade. Their application in clinical settings, however, is not always straightforward due to relatively high costs of some tests, limited availability of the biological material and time, and procedural constraints. Hence, there is an increasing interest in constructing tissue-based surrogate biomarkers that could be applied with minimal overhead directly to histopathology images and which could be used for guiding the selection of eventual further molecular tests...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28523098/incb24360-epacadostat-a-highly-potent-and-selective-indoleamine-2-3-dioxygenase-1-ido1-inhibitor-for-immuno-oncology
#4
Eddy W Yue, Richard Sparks, Padmaja Polam, Dilip Modi, Brent Douty, Brian Wayland, Brian Glass, Amy Takvorian, Joseph Glenn, Wenyu Zhu, Michael Bower, Xiangdong Liu, Lynn Leffet, Qian Wang, Kevin J Bowman, Michael J Hansbury, Min Wei, Yanlong Li, Richard Wynn, Timothy C Burn, Holly K Koblish, Jordan S Fridman, Tom Emm, Peggy A Scherle, Brian Metcalf, Andrew P Combs
A data-centric medicinal chemistry approach led to the invention of a potent and selective IDO1 inhibitor 4f, INCB24360 (epacadostat). The molecular structure of INCB24360 contains several previously unknown or underutilized functional groups in drug substances, including a hydroxyamidine, furazan, bromide, and sulfamide. These moieties taken together in a single structure afford a compound that falls outside of "drug-like" space. Nevertheless, the in vitro ADME data is consistent with the good cell permeability and oral bioavailability observed in all species (rat, dog, monkey) tested...
May 11, 2017: ACS Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28522868/first-demonstration-of-multi-color-3-d-in-vivo-imaging-using-ultra-compact-compton-camera
#5
Aya Kishimoto, Jun Kataoka, Takanori Taya, Leo Tagawa, Saku Mochizuki, Shinji Ohsuka, Yuto Nagao, Keisuke Kurita, Mitsutaka Yamaguchi, Naoki Kawachi, Keiko Matsunaga, Hayato Ikeda, Eku Shimosegawa, Jun Hatazawa
In the field of nuclear medicine, single photon emission tomography and positron emission tomography are the two most common techniques in molecular imaging, but the available radioactive tracers have been limited either by energy range or difficulties in production and delivery. Thus, the use of a Compton camera, which features gamma-ray imaging of arbitrary energies from a few hundred keV to more than MeV, is eagerly awaited along with potential new tracers which have never been used in current modalities...
May 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28515982/current-concepts-on-the-genetic-factors-in-rotator-cuff-pathology-and-future-implications-for-sports-physical-therapists
#6
Travis Orth, Jessica Paré, John E Froehlich
CONTEXT: Recent advances within the field of genetics are currently changing many of the methodologies in which medicine is practiced. These advances are also beginning to influence the manner in which physical therapy services are rendered. Rotator cuff pathology is one of the most common diagnoses treated by the sports physical therapist. The purpose of this commentary is to educate sports physical therapists on the recent advances regarding how genetics influences rotator cuff pathology, including rotator cuff tears, and provide a perspective on how this information will likely influence post-operative shoulder rehabilitation in the near future...
April 2017: International Journal of Sports Physical Therapy
https://www.readbyqxmd.com/read/28509701/educational-gaps-in-molecular-diagnostics-genomics-and-personalized-medicine-in-dermatopathology-training-a-survey-of-us-dermatopathology-fellowship-program-directors
#7
Kristin Torre, Kristen Russomanno, Tammie Ferringer, Dirk Elston, Michael J Murphy
BACKGROUND: Molecular technologies offer clinicians the tools to provide high-quality, cost-effective patient care. We evaluated education focused on molecular diagnostics, genomics, and personalized medicine in dermatopathology fellowship. DESIGN: A 20-question online survey was emailed to all (n = 53) Accreditation Council for Graduate Medical Education (ACGME)-accredited dermatopathology training programs in the United States. RESULTS: Thirty-one of 53 program directors responded (response rate = 58%)...
May 2, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28507539/new-insight-into-inter-kingdom-communication-horizontal-transfer-of-mobile-small-rnas
#8
REVIEW
Geyu Zhou, Yu Zhou, Xi Chen
Small RNAs (sRNAs), including small interfering RNAs (siRNAs) and microRNAs (miRNAs), are conventionally regarded as critical molecular regulators of various intracellular processes. However, recent accumulating evidence indicates that sRNAs can be transferred within cells and tissues and even across species. In plants, nematodes and microbes, these mobile sRNAs can mediate inter-kingdom communication, environmental sensing, gene expression regulation, host-parasite defense and many other biological functions...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28503544/update-on-foregut-molecular-embryology-and-role-of-regenerative-medicine-therapies
#9
REVIEW
Silvia Perin, Conor J McCann, Osvaldo Borrelli, Paolo De Coppi, Nikhil Thapar
Esophageal atresia (OA) represents one of the commonest and most severe developmental disorders of the foregut, the most proximal segment of the gastrointestinal (GI) tract (esophagus and stomach) in embryological terms. Of intrigue is the common origin from this foregut of two very diverse functional entities, the digestive and respiratory systems. OA appears to result from incomplete separation of the ventral and dorsal parts of the foregut during development, resulting in disruption of esophageal anatomy and frequent association with tracheo-oesophageal fistula...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28501772/hyperoside-protects-against-chronic-mild-stress-induced-learning-and-memory-deficits
#10
Yeli Gong, Youhua Yang, Xiaoqing Chen, Min Yang, Dan Huang, Rong Yang, Lianying Zhou, Changlei Li, Qiuju Xiong, Zhe Xiong
Hyperoside (quercetin-3-O-b-d-galactosidepyranose) is a plant-derived flavonoid mainly found in fruits, fruit juices (most notably flavanols, flavanones, and anthocyanins) and Chinese traditional medicines. It has been applied to relieve pain and improve cardiovascular functions in clinic. However, the effects of hyperoside on cognitive impairment induced by chronic stress and the underlying molecular mechanisms remain unclear. In the current study, we used chronic mild stress (CMS) rats to investigate the effects of hyperoside on learning and memory and further explore the possible mechanisms...
May 11, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28497202/exosomes-and-their-application-in-biomedical-field-difficulties-and-advantages
#11
REVIEW
Jafar Rezaie, Saeed Ajezi, Çığır Biray Avci, Mohammad Karimipour, Mohammad Hossein Geranmayeh, Alireza Nourazarian, Emel Sokullu, Aysa Rezabakhsh, Reza Rahbarghazi
The science of gene therapy has experienced a controversial history. At first, the initial concept that various disorders become curable by gene transferring was very exciting and challengeable. However, the problems and difficulties related to emerging techniques and unwanted side effects seen in some patients who have undergone gene therapy make some questions against the safety of novel molecular medicine approach. In line with this statement, discovery and developing a good bio-vector possessing low toxicity and high efficiency rate are the most important issues in gene therapy field...
May 11, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28492532/sherloc-a-comprehensive-refinement-of-the-acmg-amp-variant-classification-criteria
#12
Keith Nykamp, Michael Anderson, Martin Powers, John Garcia, Blanca Herrera, Yuan-Yuan Ho, Yuya Kobayashi, Nila Patil, Janita Thusberg, Marjorie Westbrook, Scott Topper
PurposeThe 2015 American College of Medical Genetics and Genomics-Association for Molecular Pathology (ACMG-AMP) guidelines were a major step toward establishing a common framework for variant classification. In practice, however, several aspects of the guidelines lack specificity, are subject to varied interpretations, or fail to capture relevant aspects of clinical molecular genetics. A simple implementation of the guidelines in their current form is insufficient for consistent and comprehensive variant classification...
May 11, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28485623/inhibition-of-amyloid-oligomerization-into-different-supramolecular-architectures-by-small-molecules-mechanistic-insights-and-design-rules
#13
Sayanti Brahmachari, Ashim Paul, Daniel Segal, Ehud Gazit
Protein misfolding and aggregation have been associated with several human disorders, including Alzheimer's, Parkinson's and Huntington's diseases, as well as senile systemic amyloidosis and Type II diabetes. However, there is no current disease-modifying therapy available for the treatment of these disorders. In spite of extensive academic, pharmaceutical, medicinal and clinical research, a complete mechanistic model for this family of diseases is still lacking. In this review, we primarily discuss the different types of small molecular entities which have been used for the inhibition of the aggregation process of different amyloidogenic proteins under diseased conditions...
May 9, 2017: Future Medicinal Chemistry
https://www.readbyqxmd.com/read/28484312/genetic-diagnosis-as-a-tool-for-personalized-treatment-of-duchenne-muscular-dystrophy
#14
REVIEW
Luca Bello, Elena Pegoraro
Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinction between Duchenne, Becker, or intermediate muscular dystrophy is not obvious. As molecular treatments aimed at dystrophin restoration in DMD are increasingly available as commercialized drugs or within clinical trials, genetic diagnosis has become an indispensable tool in order to determine eligibility for these treatments...
December 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28477347/p4-medicine-approach-to-obstructive-sleep-apnoea
#15
REVIEW
Diane C Lim, Kate Sutherland, Peter A Cistulli, Allan I Pack
P4 medicine is an evolving approach to personalized medicine. The four Ps offer a means to: Predict who will develop disease and co-morbidities; Prevent rather than react to disease; Personalize diagnosis and treatment; have patients Participate in their own care. P4 medicine is very applicable to obstructive sleep apnoea (OSA) because each OSA patient has a different pathway to disease and its consequences. OSA has both structural and physiological mechanisms with different clinical subgroups, different molecular profiles and different consequences...
May 5, 2017: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/28475856/international-cooperation-to-enable-the-diagnosis-of-all-rare-genetic-diseases
#16
Kym M Boycott, Ana Rath, Jessica X Chong, Taila Hartley, Fowzan S Alkuraya, Gareth Baynam, Anthony J Brookes, Michael Brudno, Angel Carracedo, Johan T den Dunnen, Stephanie O M Dyke, Xavier Estivill, Jack Goldblatt, Catherine Gonthier, Stephen C Groft, Ivo Gut, Ada Hamosh, Philip Hieter, Sophie Höhn, Matthew E Hurles, Petra Kaufmann, Bartha M Knoppers, Jeffrey P Krischer, Milan Macek, Gert Matthijs, Annie Olry, Samantha Parker, Justin Paschall, Anthony A Philippakis, Heidi L Rehm, Peter N Robinson, Pak-Chung Sham, Rumen Stefanov, Domenica Taruscio, Divya Unni, Megan R Vanstone, Feng Zhang, Han Brunner, Michael J Bamshad, Hanns Lochmüller
Provision of a molecularly confirmed diagnosis in a timely manner for children and adults with rare genetic diseases shortens their "diagnostic odyssey," improves disease management, and fosters genetic counseling with respect to recurrence risks while assuring reproductive choices. In a general clinical genetics setting, the current diagnostic rate is approximately 50%, but for those who do not receive a molecular diagnosis after the initial genetics evaluation, that rate is much lower. Diagnostic success for these more challenging affected individuals depends to a large extent on progress in the discovery of genes associated with, and mechanisms underlying, rare diseases...
May 4, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28473461/nuclear-medicine-technologist-s-perception-and-current-assessment-of-quality-a-society-of-nuclear-medicine-and-molecular-imaging-technologist-section-snmmi-ts-survey
#17
April Mann, Mary Beth Farrell, Jessica Williams, Danny Basso
In 2015, the SNMMI-TS launched a multi-year quality initiative to help prepare the technologist workforce for an evidence-based healthcare delivery system that focuses on quality. To best implement the quality strategy, the SNMMI-TS first surveyed technologists to ascertain their perception of quality and current measurement of quality indicators. Methods: An internet survey was sent to 27,989 email contacts. Questions related to demographic data, perceptions of quality, quality measurement, and opinions on the minimum level of education are discussed in this manuscript...
May 4, 2017: Journal of Nuclear Medicine Technology
https://www.readbyqxmd.com/read/28472808/idiopathic-pulmonary-fibrosis-molecular-endotypes-of-fibrosis-stratifying-existing-and-emerging-therapies
#18
Daniele Magnini, Giuliano Montemurro, Bruno Iovene, Linda Tagliaboschi, Rafael Emanuele Gerardi, Erminia Lo Greco, Teresa Bruni, Alessio Fabbrizzi, Francesco Lombardi, Luca Richeldi
Idiopathic pulmonary fibrosis (IPF) is a specific form of chronic, progressive fibrosing interstitial pneumonia of unknown causes. Current diagnostic criteria are based on radiological, clinical, and histopathological features but, unfortunately, still many patients remain undiagnosed. Two currently approved therapies, pirfenidone and nintedanib, slow down disease progression but failed to block or revert it. On the other hand, many of the therapeutic agents tested in several clinical trials have not given satisfactory answers, probably due to the pathological heterogeneity of the disease...
May 5, 2017: Respiration; International Review of Thoracic Diseases
https://www.readbyqxmd.com/read/28462793/biosimilars-to-recombinant-human-fsh-medicines-comparable-efficacy-and-safety-to-the-original-biologic
#19
Fernando de Mora, Bart C J M Fauser
Two recombinant follicle-stimulating hormone (rFSH)-bearing similar biological medicines (biosimilars) have been authorized by the European Commission. Biosimilar is a regulatory concept alluding to the evidence-based high-standard comparability studies needed to demonstrate its equivalence to a reference original biologic. Because biosimilar development represents a shift from the long-lasting existing paradigms, a thorough understanding of the science behind it will contribute to helping prescribers make informed treatment choices...
April 10, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28461811/genetic-diversity-and-population-structure-analysis-of-kala-bhat-glycine-max-l-merrill-genotypes-using-ssr-markers
#20
Yegappa Hipparagi, Rakesh Singh, Debjani Roy Choudhury, Veena Gupta
BACKGROUND: Kala bhat (Black soybean) is an important legume crop in Uttarakhand state, India, due to its nutritional and medicinal properties. In the current study, the genetic variabilities present in Kala bhat were estimated using SSR markers and its variability was compared with other improved soybean varieties cultivated in Uttarakhand state, India. RESULTS: Seventy-five genotypes cultivated in different districts of Uttarakhand were collected, and molecular analysis was done using 21 SSR markers...
2017: Hereditas
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