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Genetic medicine

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https://www.readbyqxmd.com/read/28813639/exploitation-of-gene-expression-and-cancer-biomarkers-in-paving-the-path-to-era-of-personalized-medicine
#1
REVIEW
Hala Fawzy Mohamed Kamel, Hiba Saeed A Bagader Al-Amodi
Cancer therapy agents have been used extensively as cytotoxic drugs against tissue or organ of a specific type of cancer. With the better understanding of molecular mechanisms underlying carcinogenesis and cellular events during cancer progression and metastasis, it is now possible to use targeted therapy for these molecular events. Targeted therapy is able to identify cancer patients with dissimilar genetic defects at cellular level for the same cancer type and consequently requires individualized approach for treatment...
August 13, 2017: Genomics, Proteomics & Bioinformatics
https://www.readbyqxmd.com/read/28813239/how-should-clinicians-counsel-a-woman-with-a-strong-family-history-of-early-onset-alzheimer-s-disease-about-her-pregnancy
#2
Marianna V Mapes, Barbara M O'Brien, Louise P King
Counseling patients regarding the benefits, harms, and dilemmas of genetic testing is one of the greatest ethical challenges facing reproductive medicine today. With or without test results, clinicians grapple with how to communicate potential genetic risks as patients weigh their reproductive options. Here, we consider a case of a woman with a strong family history of early-onset Alzheimer's disease (EOAD). She is early in her pregnancy and unsure about learning her own genetic status. We address the ethical ramifications of each of her options, which include genetic testing, genetic counseling, and termination versus continuation of the pregnancy...
July 1, 2017: AMA Journal of Ethics
https://www.readbyqxmd.com/read/28813232/understanding-peripartum-cardiomyopathy
#3
Zoltan Arany
Peripartum cardiomyopathy (PPCM) is the unexplained loss of maternal cardiac systolic function in the period surrounding parturition. PPCM affects women worldwide and is a leading cause of maternal mortality. The cause of PPCM has remained elusive until recently. We review here the epidemiology of PPCM, recent findings that strongly indicate hormonal and genetic contributions to the development of PPCM, and implications for the management of women with PPCM. Expected final online publication date for the Annual Review of Medicine Volume 69 is January 29, 2018...
August 16, 2017: Annual Review of Medicine
https://www.readbyqxmd.com/read/28813021/enhanced-cell-growth-of-adipocyte-derived-mesenchymal-stem-cells-using-chemically-defined-serum-free-media
#4
Myung-Suk Lee, Christine Youn, Jeong Hyun Kim, Byoung Jun Park, Jongchan Ahn, Sungyoul Hong, Young-Deug Kim, Young Kee Shin, Sang Gyu Park
The multipotency and anti-inflammatory effects of mesenchymal stem cells (MSCs) make them attractive for cell therapy in regenerative medicine. A large number of MSCs is required for efficient therapy owing to the low homing efficiency of MSCs to target sites. Furthermore, owing to limitations in obtaining sufficient amounts of MSCs, in vitro expansion of MSCs that preserves their differentiation and proliferative potential is essential. The animal factor included in culture media also limits clinical application...
August 16, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28812535/associating-mutations-causing-cystinuria-with-disease-severity-with-the-aim-of-providing-precision-medicine
#5
Henry J Martell, Kathie A Wong, Juan F Martin, Ziyan Kassam, Kay Thomas, Mark N Wass
BACKGROUND: Cystinuria is an inherited disease that results in the formation of cystine stones in the kidney, which can have serious health complications. Two genes (SLC7A9 and SLC3A1) that form an amino acid transporter are known to be responsible for the disease. Variants that cause the disease disrupt amino acid transport across the cell membrane, leading to the build-up of relatively insoluble cystine, resulting in formation of stones. Assessing the effects of each mutation is critical in order to provide tailored treatment options for patients...
August 11, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28812273/a-precision-medicine-approach-to-oxytocin%C3%A2-trials
#6
Elissar Andari, Rene Hurlemann, Larry J Young
In this chapter, we introduce a new area of social pharmacology that encompasses the study of the role of neuromodulators in modulating a wide range of social behaviors and brain function, with the interplay of genetic and epigenetic factors. There are increasing evidences for the role of the neuropeptide oxytocin in modulating a wide range of social behaviors, in reducing anxiety, and in impacting the social brain network. Oxytocin also promotes social functions in patients with neuropsychiatric disorders, such as autism and reduces anxiety and fear in anxiety disorders...
August 16, 2017: Current Topics in Behavioral Neurosciences
https://www.readbyqxmd.com/read/28812013/intelligent-techniques-using-molecular-data-analysis-in-leukaemia-an-opportunity-for-personalized-medicine-support-system
#7
REVIEW
Haneen Banjar, David Adelson, Fred Brown, Naeem Chaudhri
The use of intelligent techniques in medicine has brought a ray of hope in terms of treating leukaemia patients. Personalized treatment uses patient's genetic profile to select a mode of treatment. This process makes use of molecular technology and machine learning, to determine the most suitable approach to treating a leukaemia patient. Until now, no reviews have been published from a computational perspective concerning the development of personalized medicine intelligent techniques for leukaemia patients using molecular data analysis...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28810627/carthamin-yellow-inhibits-matrix-degradation-and-inflammation-induced-by-lps-in-the-intervertebral-disc-via-suppression-of-mapk-pathway-activation
#8
Bin Chen, Han-Tao Wang, Bo Yu, Ji-Dong Zhang, Yu Feng
Carthamin yellow (CY), which is a flavonoid compound isolated from safflower, has various pharmacological effects including promoting blood circulation to remove blood stasis and alleviating pain. CY is a herb used in Chinese traditional medicines. Intervertebral disc degeneration (IDD) is a common spinal disorder and degeneration of nucleus pulposus (NP) cells and inflammation are significant parts of the pathological cascade. The curative effect of CY on NP cells in association with degeneration and inflammation remains to be elucidated...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28810112/patient-and-physician-perceptions-of-genetic-testing-in-primary-care
#9
Samuel A Evenson, H Eugene Hoyme, Jan E Haugen-Rogers, Eric A Larson, Susan E Puumala
INTRODUCTION: The convergence of biomedical informatics and translational genomics is changing the way we practice. Primary care will play a pivotal role in this transformation. We therefore sought to assess general knowledge about genetic testing among outpatient internal medicine providers, and the patients that they serve across a five state region in the Midwest. METHODS: One thousand take-home paper surveys were created and distributed to internal medicine patients at 13 Midwestern clinics...
November 2016: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/28808798/genetic-engineering-approach-using-early-vinca-alkaloid-biosynthesis-genes-led-to-increased-tryptamine-and-terpenoid-indole-alkaloids-biosynthesis-in-differentiating-cultures-of-catharanthus-roseus
#10
Abhishek Sharma, Priyanka Verma, Archana Mathur, Ajay Kumar Mathur
Catharanthus roseus today occupies the central position in ongoing metabolic engineering efforts in medicinal plants. The entire multi-step biogenetic pathway of its very expensive anticancerous alkaloids vinblastine and vincristine is fairly very well dissected at biochemical and gene levels except the pathway steps leading to biosynthesis of monomeric alkaloid catharanthine and tabersonine. In order to enhance the plant-based productivity of these pharma molecules for the drug industry, cell and tissue cultures of C...
August 14, 2017: Protoplasma
https://www.readbyqxmd.com/read/28808384/molecular-authentication-of-the-traditional-medicinal-plant-lakshman-booti-smithia-conferta-sm-and-its-adulterants-through-dna-barcoding
#11
Suraj D Umdale, Parthraj R Kshirsagar, Manoj M Lekhak, Nikhil B Gaikwad
BACKGROUND: Smithia conferta Sm. is an annual herb widely used in Indian traditional medical practice and commonly known as "Lakshman booti" in Sanskrit. Morphological resemblance among the species of genus Smithia Aiton. leads to inaccurate identification and adulteration. This causes inconsistent therapeutic effects and also affects the quality of herbal medicine. AIM: This study aimed to generate potential barcode for authentication of S. conferta and its adulterants through DNA barcoding technique...
July 2017: Pharmacognosy Magazine
https://www.readbyqxmd.com/read/28807841/racial-disparity-in-gastrointestinal-cancer-risk
#12
REVIEW
Hassan Ashktorab, Sonia S Kupfer, Hassan Brim, John M Carethers
Cancer from the gastrointestinal tract and its associated excretory organs will occur in over 300,000 Americans in 2017, with colorectal cancer responsible for over forty percent of that burden; there will be over 150,000 deaths from this group of cancers in the same time period. Disparities among subgroups related to these cancers' incidence and mortality exist. The epidemiology and risk factors associated with each cancer bear out differences for racial groups in the United States. Esophageal adenocarcinoma is more frequent in Non-Hispanic Whites, whereas esophageal squamous cell carcinoma with risk factors of tobacco and alcohol is more frequent among Blacks...
August 11, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28807165/effect-and-mechanism-of-chinese-herbal-medicine-on-parkinson-s-disease
#13
Bai-Yun Zeng
Parkinson's disease is a progressive neurodegenerative disorder. Although both genetic and environmental factors are implicated in the development of Parkinson's disease, the cause of the disease is still unclear. So far conventional treatments to Parkinson's are symptomatic relief and focused mainly on motor symptoms. Chinese herbal medicine has been used to treat many conditions in China, Korea, Japan, and many Southeast Asian countries for 1000 years. During past a few decades, Chinese herbal medicine has gained wider and increasing acceptance within both public and medical profession due to its effectiveness on many conditions in western countries...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28806950/precision-medicine-approaches-to-lung-adenocarcinoma-with-concomitant-met-and-her2-amplification
#14
Doo-Yi Oh, Kyungsoo Jung, Ji-Young Song, Seokhwi Kim, Sang Shin, Yong-Jun Kwon, Ensel Oh, Woong-Yang Park, Sang Yong Song, Yoon-La Choi
BACKGROUND: Patient-derived xenograft (PDX) models are important tools in precision medicine and for the development of targeted therapies to treat cancer patients. This study aimed to evaluate our precision medicine strategy that integrates genomic profiling and preclinical drug-screening platforms, in order to personalize cancer treatments using PDX models. METHODS: We performed array-comparative genomic hybridization, microarray, and targeted next-generation sequencing analyses, in order to determine the oncogenic driver mutations...
August 10, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28806200/quality-of-anticoagulation-control-and-hemorrhage-risk-among-african-american-and-european-american-warfarin-users
#15
Nita A Limdi, Todd M Brown, Aditi Shendre, Nianjun Liu, Charles E Hill, Timothy M Beasley
OBJECTIVE: We evaluated whether percent time in target range (PTTR), risk of over-anticoagulation [international normalized ratio (INR)>4], and risk of hemorrhage differ by race. As PTTR is a strong predictor of hemorrhage risk, we also determined the influence of PTTR on the risk of hemorrhage by race. PARTICIPANTS AND METHODS: Among 1326 warfarin users, PTTR was calculated as the percentage of interpolated INR values within the target range of 2.0-3.0. PTTR was also categorized as poor (PTTR<60%), good (60≤PTTR<70%), or excellent (PTTR≥70%) anticoagulation control...
August 11, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28805827/transcriptional-risk-scores-link-gwas-to-eqtls-and-predict-complications-in-crohn-s-disease
#16
Urko M Marigorta, Lee A Denson, Jeffrey S Hyams, Kajari Mondal, Jarod Prince, Thomas D Walters, Anne Griffiths, Joshua D Noe, Wallace V Crandall, Joel R Rosh, David R Mack, Richard Kellermayer, Melvin B Heyman, Susan S Baker, Michael C Stephens, Robert N Baldassano, James F Markowitz, Mi-Ok Kim, Marla C Dubinsky, Judy Cho, Bruce J Aronow, Subra Kugathasan, Greg Gibson
Gene expression profiling can be used to uncover the mechanisms by which loci identified through genome-wide association studies (GWAS) contribute to pathology. Given that most GWAS hits are in putative regulatory regions and transcript abundance is physiologically closer to the phenotype of interest, we hypothesized that summation of risk-allele-associated gene expression, namely a transcriptional risk score (TRS), should provide accurate estimates of disease risk. We integrate summary-level GWAS and expression quantitative trait locus (eQTL) data with RNA-seq data from the RISK study, an inception cohort of pediatric Crohn's disease...
August 14, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28805581/nonmotor-parkinson-s-and-future-directions
#17
Nataliya Titova, K Ray Chaudhuri
Nonmotor symptoms (NMS) of Parkinson's disease (PD) are integral to the condition largely regarded as a motor syndrome. A range of NMS underpin the prodromal stage of Parkinson's and are present with variable frequency, range, and nature across the whole journey of a patient with Parkinson's from the onset of the motor disease to palliative stage. These symptoms also are key determinants of quality of life of the patient as well as the carer. Despite this, recognition management and focused treatment of NMS of PD remain poor...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28804866/virally-vectored-vaccine-delivery-medical-needs-mechanisms-advantages-and-challenges
#18
Daniel D Pinschewer
Vaccines represent one of the most successful chapters in the history of medicine. Over the past decades, the advent of recombinant cDNA technology has enabled the biomedical community to genetically engineer viruses for vaccine delivery purposes. As a starting point, this review evaluates the unmet medical needs, which drive scientists and industry to exploit such fundamentally new technology for human vaccination. The author discusses the molecular functioning, production and safety profile of replication-competent and -deficient viral vector systems, representing two fundamentally distinct classes of "genetic vaccines"...
August 14, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28804700/abridged-version-of-the-awmf-guideline-for-the-medical-clinical-diagnostics-of-indoor-mould-exposure-s2k-guideline-of-the-german-society-of-hygiene-environmental-medicine-and-preventive-medicine-ghup-in-collaboration-with-the-german-association-of-allergists
#19
Gerhard A Wiesmüller, Birger Heinzow, Ute Aurbach, Karl-Christian Bergmann, Albrecht Bufe, Walter Buzina, Oliver A Cornely, Steffen Engelhart, Guido Fischer, Thomas Gabrio, Werner Heinz, Caroline E W Herr, Jörg Kleine-Tebbe, Ludger Klimek, Martin Köberle, Herbert Lichtnecker, Thomas Lob-Corzilius, Rolf Merget, Norbert Mülleneisen, Dennis Nowak, Uta Rabe, Monika Raulf, Hans Peter Seidl, Jens-Oliver Steiß, Regine Szewszyk, Peter Thomas, Kerttu Valtanen, Julia Hurraß
This article is an abridged version of the AWMF mould guideline "Medical clinical diagnostics of indoor mould exposure" presented in April 2016 by the German Society of Hygiene, Environmental Medicine and Preventive Medicine (Gesellschaft für Hygiene, Umweltmedizin und Präventivmedizin, GHUP), in collaboration with the above-mentioned scientific medical societies, German and Austrian societies, medical associations and experts. Indoor mould growth is a potential health risk, even if a quantitative and/or causal relationship between the occurrence of individual mould species and health problems has yet to be established...
2017: Allergo Journal International
https://www.readbyqxmd.com/read/28804492/population-genetic-differentiation-and-taxonomy-of-three-closely-related-species-of-saxifraga-saxifragaceae-from-southern-tibet-and-the-hengduan-mountains
#20
Qing-Bo Gao, Yan Li, Zhuo-Ma Gengji, Richard J Gornall, Jiu-Li Wang, Hai-Rui Liu, Liu-Kun Jia, Shi-Long Chen
The effects of rapid, recent uplift of the Hengduan Mountains on evolution and diversification of young floristic lineages still remain unclear. Here, we investigate diversification of three closely related Saxifraga species with a distribution restricted to the Hengduan Mountains (HM) and southern Tibet, and comment on their taxonomy based on molecular evidence. Three chloroplast DNA fragments (rbcL, trnL-F, trnS-G) and the nuclear ribosomal DNA internal transcribed spacer (ITS) were employed to study genetic structure across 104 individuals from 12 populations of Saxifraga umbellulata, S...
2017: Frontiers in Plant Science
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