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https://www.readbyqxmd.com/read/28220199/-novel-pharmaceutical-treatment-approaches-for-gastric-cancer
#1
F Lordick
This review article delineates novel approaches for the pharmaceutical treatment of gastric cancer. A newly developed molecular classification of gastric cancer based on histology, genetic, epigenetic and proteomic characteristics has evolved. It provides a road map for development of new drugs and combinations as well as for patient stratification in clinical research and it is expected to be introduced into clinical practice in the near future. Anti-HER2 targeted treatment is a validated strategy for treatment of metastatic gastric cancer and is now also being studied in the perioperative setting to increase response rates and ultimately survival in patients undergoing curative surgery; however, the resistance mechanisms of HER2-targeted treatment are poorly understood and optimal patient selection remains challenging...
February 20, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28213588/a-differential-autophagy-dependent-response-to-dna-double-strand-brakes-in-bone-marrow-mesenchymal-stem-cells-from-sporadic-als-patients
#2
Shane Wald-Altman, Edward Pichinuk, Or Kakhlon, Miguel Weil
Amyotrophic Lateral Sclerosis (ALS) is an incurable motor neurodegenerative disease caused by a diversity of genetic and environmental factors leading to neuromuscular degeneration and pathophysiological implications in non-neural systems. Our previous work showed abnormal transcriptional expression levels of biomarker genes in non-neuronal cell samples from ALS patients. The same genes proved to be differentially expressed in brain, spinal cord and muscle of the SOD1(G93A) ALS mouse model. These observations support the pathophysiological relevance of the ALS biomarkers discovered in human mesenchymal stem cells (hMSC) isolated from bone marrow samples of ALS patients (ALS-hMSC)...
February 16, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28212155/molecular-markers-in-lung-cancer-role-of-ebus
#3
Semra Bilaçeroğlu
PURPOSE OF REVIEW: As demonstrated by the recent therapeutic advances in nonsmall cell lung cancer (NSCLC), a personalized approach can considerably reduce its mortality. RECENT FINDINGS: Molecular tests identifying genetic mutations in NSCLC have led to a shift towards more effective and personalized therapies targeted to these alterations. Adequate tissue is required for diagnosing, subcharacterizing, and genotyping NSCLC by morphological, immunohistochemical, and molecular techniques...
February 16, 2017: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/28199202/racial-disparity-in-metabolic-regulation-of-cancer
#4
Kuldeep S Attri, Divya Murthy, Pankaj K Singh
Genetic mutations and metabolic reprogramming are two key hallmarks of cancer, required for proliferation, invasion, and metastasis of the disease. While genetic mutations, whether inherited or acquired, are critical for the initiation of tumor development, metabolic reprogramming is an effector mechanism imperative for adaptational transition during the progression of cancer. Recent findings in the literature emphasize the significance of molecular cross-talk between these two cellular processes in regulating signaling and differentiation of cancer cells...
March 1, 2017: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28198728/personalized-medicine-in-interstitial-lung-diseases
#5
Paolo Spagnolo, Justin M Oldham, Mark G Jones, Joyce S Lee
PURPOSE OF REVIEW: A number of recent studies have explored the possibility to apply personalized medicine to interstitial lung diseases (ILDs), particularly idiopathic pulmonary fibrosis (IPF), the most common and deadly of the idiopathic interstitial pneumonias. In our review, we summarize and discuss the most recent literature on personalized medicine in IPF as well as hypersensitivity pneumonitis and sarcoidosis, with emphasis on patient subgroups for which a personalized approach to disease prognostication and management may become a reality in the near future...
February 13, 2017: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/28197949/the-impact-of-next-generation-sequencing-on-the-diagnosis-and-treatment-of-epilepsy-in-paediatric-patients
#6
REVIEW
Davide Mei, Elena Parrini, Carla Marini, Renzo Guerrini
Next-generation sequencing (NGS) has contributed to the identification of many monogenic epilepsy syndromes and is favouring earlier and more accurate diagnosis in a subset of paediatric patients with epilepsy. The cumulative information emerging from NGS studies is rapidly changing our comprehension of the relations between early-onset severe epilepsy and the associated neurological impairment, progressively delineating specific entities previously gathered under the umbrella definition of epileptic encephalopathies, thereby influencing treatment choices and limiting the most aggressive drug regimens only to those conditions that are likely to actually benefit from them...
February 14, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28195567/bdnf-val66met-association-with-serotonin-transporter-binding-in-healthy-humans
#7
P M Fisher, B Ozenne, C Svarer, D Adamsen, S Lehel, W F C Baaré, P S Jensen, G M Knudsen
The serotonin transporter (5-HTT) is a key feature of the serotonin system, which is involved in behavior, cognition and personality and implicated in neuropsychiatric illnesses including depression. The brain-derived neurotrophic factor (BDNF) val66met and 5-HTTLPR polymorphisms have predicted differences in 5-HTT levels in humans but with equivocal results, possibly due to limited sample sizes. Within the current study we evaluated these genetic predictors of 5-HTT binding with [(11)C]DASB positron emission tomography (PET) in a comparatively large cohort of 144 healthy individuals...
February 14, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28194004/genetic-contributions-to-self-reported-tiredness
#8
V Deary, S P Hagenaars, S E Harris, W D Hill, G Davies, D C M Liewald, A M McIntosh, C R Gale, I J Deary
Self-reported tiredness and low energy, often called fatigue, are associated with poorer physical and mental health. Twin studies have indicated that this has a heritability between 6 and 50%. In the UK Biobank sample (N=108 976), we carried out a genome-wide association study (GWAS) of responses to the question, 'Over the last two weeks, how often have you felt tired or had little energy?' Univariate GCTA-GREML found that the proportion of variance explained by all common single-nucleotide polymorphisms for this tiredness question was 8...
February 14, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28188595/should-small-renal-masses-be-biopsied
#9
REVIEW
Ricardo R N Leão, Ardalan E Ahmad, Patrick O Richard
Over the last few decades, the incidence of renal cell carcinomas (RCCs) has been steadily increasing. This is primarily due to an increase in detection of small renal masses (SRMs) as a result of widespread utilization of abdominal imaging. Interestingly, up to 30% of incidentally discovered SRMs (solid lesions measuring ≤4 cm) are benign, and consequently, the definitive treatment of all SRMs is associated with a considerable risk of overtreatment. To decrease the overtreatment rate, renal tumour biopsy (RTB) has been advocated as a safe alternative to identify the pretreatment histology of these SRMs...
January 2017: Current Urology Reports
https://www.readbyqxmd.com/read/28179575/key-lessons-learned-from-moffitt-s-molecular-tumor-board-the-clinical-genomics-action-committee-experience
#10
Todd C Knepper, Gillian C Bell, J Kevin Hicks, Eric Padron, Jamie K Teer, Teresa T Vo, Nancy K Gillis, Neil T Mason, Howard L McLeod, Christine M Walko
BACKGROUND: The increasing practicality of genomic sequencing technology has led to its incorporation into routine clinical practice. Successful identification and targeting of driver genomic alterations that provide proliferative and survival advantages to tumor cells have led to approval and ongoing development of several targeted cancer therapies. Within many major cancer centers, molecular tumor boards are constituted to shepherd precision medicine into clinical practice. MATERIALS AND METHODS: In July 2014, the Clinical Genomics Action Committee (CGAC) was established as the molecular tumor board companion to the Personalized Medicine Clinical Service (PMCS) at Moffitt Cancer Center in Tampa, Florida...
February 8, 2017: Oncologist
https://www.readbyqxmd.com/read/28176637/personalized-medicine-applied-to-forensic-sciences-new-advances-and-perspectives-for-a-tailored-forensic-approach
#11
Alessandro Santurro, Anna Maria Vullo, Marina Borro, Giovanna Gentile, Raffaele La Russa, Maurizio Simmaco, Paola Frati, Vittorio Fineschi
Personalized medicine (PM), included in P5 medicine (Personalized, Predictive, Preventive, Participative and Precision medicine) is an innovative approach to the patient, emerging from the need to tailor and to fit the profile of each individual. PM promises to dramatically impact also on forensic sciences and justice system in ways we are only beginning to understand. The application of omics (genomic, transcriptomics, epigenetics/imprintomics, proteomic and metabolomics) is ever more fundamental in the so called "molecular autopsy"...
February 7, 2017: Current Pharmaceutical Biotechnology
https://www.readbyqxmd.com/read/28164604/linkage-analysis-based-on-four-microsatellite-markers-to-screen-for-unknown-mutation-in-families-with-wilson-disease
#12
Farzane Arianfar, Majid Fardaei
BACKGROUND: Wilson disease (WD) is a rare autosomal recessive disorder of copper metabolism due to mutations in ATP7B gene on the chromosome 13. Linkage analysis using microsatellite markers is a powerful screening technique to identify mutant chromosomes especially in affected families with unknown mutations. Previous studies in southern Iran have failed to identify mutations in the ATP7B in some clinically diagnosed cases. Hence, the present study was undertaken to provide a screening method for these WD affected families...
August 1, 2016: Clinical Laboratory
https://www.readbyqxmd.com/read/28154920/high-grade-serous-ovarian-cancer-the-clone-wars
#13
REVIEW
Aleksander Salomon-Perzyński, Magdalena Salomon-Perzyńska, Bogdan Michalski, Violetta Skrzypulec-Plinta
BACKGROUND: The last 5 years' studies using next-generation sequencing provided evidences that many types of solid tumors present spatial and temporal genetic heterogeneity and are composed of multiple populations of genetically distinct subclones that evolve over time following a pattern of branched evolution. The evolutionary nature of cancer has been proposed as the major contributor to drug resistance and treatment failure. In this review, we present the current state of knowledge about the clonal evolution of high-grade serous ovarian cancer and discuss the challenge that clonal evolution poses for efforts to achieve an optimal cancer control...
February 3, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28144389/systemic-treatment-for-hepatocellular-carcinoma-still-unmet-expectations
#14
REVIEW
Dimitrios N Samonakis, Elias A Kouroumalis
Many patients with hepatocellular carcinoma (HCC) are diagnosed in an advanced stage, so they cannot be offered the option of curative treatments. The results of systemic chemotherapy are unsatisfactory and this has led to molecular targeted approaches. HCC develops in chronically damaged tissue due to cirrhosis in most patients. Several different cell types and molecules constitute a unique microenvironment in the liver, which has significant implications in tumor development and invasion. This, together with genome instability, contributes to a significant heterogeneity which is further enhanced by the molecular differences of the underlying causes...
January 18, 2017: World Journal of Hepatology
https://www.readbyqxmd.com/read/28139901/clinical-and-genetic-characterization-of-adult-patients-presenting-with-non-syndromic-vascular-aneurysms-and-dissections
#15
Ryan S D'Souza, Dobromir Slavov, Sharon Graw, Jean Jirikowic, Emily Todd, Robert K Rogers, Matthew R Taylor
BACKGROUND: Genetic disorders affecting the arterial tree in the form of aneurysms and dissections are highly morbid conditions that strike younger persons leading to bleeding, infarction, or even death. Although clinically recognizable syndromes, notably Marfan, Ehlers Danlos, and Loeys--Dietz syndromes encompass the principal diagnosable phenotypes along the genetic vascular disorder spectrum, a substantial subset of patients cannot be adequately classified under a known diagnosis through clinical or molecular diagnostic methods...
January 31, 2017: International Angiology: a Journal of the International Union of Angiology
https://www.readbyqxmd.com/read/28138850/a-fosmid-pool-based-next-generation-sequencing-approach-to-haplotype-resolve-whole-genomes
#16
Eun-Kyung Suk, Sabrina Schulz, Birgit Mentrup, Thomas Huebsch, Jorge Duitama, Margret R Hoehe
Haplotype resolution of human genomes is essential to describe and interpret genetic variation and its impact on biology and disease. Our approach to haplotyping relies on converting genomic DNA into a fosmid library, which represents the entire diploid genome as a collection of haploid DNA clones of ~40 kb in size. These can be partitioned into pools such that the probability that the same pool contains both parental haplotypes is reduced to ~1 %. This is the key principle of this method, allowing entire pools of fosmids to be massively parallel sequenced, yielding haploid sequence output...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28138347/propelling-the-paradigm-shift-from-reductionism-to-systems-nutrition
#17
EDITORIAL
Jim Kaput, Giuditta Perozzi, Marijana Radonjic, Fabio Virgili
The complex physiology of living organisms represents a challenge for mechanistic understanding of the action of dietary bioactives in the human body and of their possible role in health and disease. Animal, cell, and microbial models have been extensively used to address questions that could not be pursued experimentally in humans, posing an additional level of complexity in translation of the results to healthy and diseased metabolism. The past few decades have witnessed a surge in development of increasingly sensitive molecular techniques and bioinformatic tools for storing, managing, and analyzing increasingly large datasets...
2017: Genes & Nutrition
https://www.readbyqxmd.com/read/28135565/dissecting-clinical-heterogeneity-in-neurofibromatosis-type-1
#18
Courtney L Monroe, Sonika Dahiya, David H Gutmann
Neurofibromatosis type 1 (NF1) is a common neurogenetic disorder in which affected children and adults are predisposed to the development of benign and malignant nervous system tumors. Caused by a germline mutation in the NF1 tumor suppressor gene, individuals with NF1 are prone to optic gliomas, malignant gliomas, neurofibromas, and malignant peripheral nerve sheath tumors, as well as behavioral, cognitive, motor, bone, cardiac, and pigmentary abnormalities. Although NF1 is a classic monogenic syndrome, the clinical features of the disorder and their impact on patient morbidity are variable, even within individuals who bear the same germline NF1 gene mutation...
January 24, 2017: Annual Review of Pathology
https://www.readbyqxmd.com/read/28127742/performance-comparison-of-nextseq-and-ion-proton-platforms-for-molecular-diagnosis-of-clinical-oncology
#19
Fei Cao, Lianju Gao, Longgang Wei, Zhanni Chen, Yan Wang, Xia Ran, Xuehong Meng, Ji Tao
PURPOSE: Next-generation sequencing is a powerful approach to detect genetic mutations with which cancer diagnosis and treatment can be tailored to the individual patient in the era of personalized and precision medicine. Ion Torrent Systems Ion Proton and Illumina NextSeq are 2 major targeted sequencing platforms; however, not much work has been done to compare these platforms' performance for mutation detection in formalin-fixed paraffin-embedded (FFPE) materials. METHODS: We benchmarked the performance by using a collection of FFPE samples from 23 patients with different cancers for NextSeq and Ion Proton platforms...
January 25, 2017: Tumori
https://www.readbyqxmd.com/read/28124158/pathogenesis-of-gastric-cancer-genetics-and-molecular-classification
#20
Ceu Figueiredo, M Constanza Camargo, Marina Leite, Ezequiel M Fuentes-Pananá, Charles S Rabkin, José C Machado
Gastric cancer is the fifth most incident and the third most common cause of cancer-related death in the world. Infection with Helicobacter pylori is the major risk factor for this disease. Gastric cancer is the final outcome of a cascade of events that takes decades to occur and results from the accumulation of multiple genetic and epigenetic alterations. These changes are crucial for tumor cells to expedite and sustain the array of pathways involved in the cancer development, such as cell cycle, DNA repair, metabolism, cell-to-cell and cell-to-matrix interactions, apoptosis, angiogenesis, and immune surveillance...
2017: Current Topics in Microbiology and Immunology
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