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https://www.readbyqxmd.com/read/29667775/views-of-parents-of-children-with-sickle-cell-disease-on-pre-implantation-genetic-diagnosis
#1
Isha Darbari, Jeanne E O'Brien, Steven J Hardy, Barbara Speller-Brown, Lisa Thaniel, Brenda Martin, Deepika S Darbari, Robert S Nickel
Pre-implantation genetic diagnosis (PGD) is an option for parents who have a child with sickle cell disease (SCD) to have another child without SCD. We conducted a survey of 19 parents with at least one child with SCD to investigate views on PGD. Before education, 44% of parents were aware of PGD. All parents rated PGD education as important. All parents considering another child also reported interest in using PGD if insurance covered its costs. Parents who have a child with SCD appear to be interested in PGD and educational tools informing this group about PGD should be developed...
April 18, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29667729/hla-dqb1-03-genotype-and-perioperative-blood-transfusion-are-not-conducive-to-the-prognosis-of-patients-with-gastric-cancer
#2
Shen-Kang Zhou, Lei-Lei Yang, Rui Chen, Yong Lu, Yong-Hua Zheng
BACKGROUND: Gastric cancer (GC) is a disease associated with a higher incidence and mortality, and some host genetic polymorphisms have been reported as potential factors contributing to the development of GC. In view of this, the study was conducted to investigate the effects of HLA-DQB1 gene polymorphisms and perioperative blood transfusion on prognosis of patients with gastric cancer (GC). METHODS: A total of 142 patients with GC (case group) and 150 healthy controls (control group) were enrolled...
April 18, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29667553/car-t-cell-therapy-a-new-era-in-cancer-immunotherapy
#3
Miliotou N Androulla, Papadopoulou C Lefkothea
BACKGROUND: Cancer is one of the leading causes of death worldwide. Over the years, a number of conventional cytotoxic approaches for neoplastic diseases has been developed. However, due to their limited effectiveness in accordance with the heterogeneity of cancer cells, there is a constant search for therapeutic approaches with improved outcome, such as immunotherapy that utilizes and enhances the normal capacity of the patient's immune system. METHODS: Chimeric Antigen Receptor (CAR) T-cell therapy involves genetic modification of patient's autologous T-cells to express a CAR specific for a tumor antigen, following by ex vivo cell expansion and re-infusion back to the patient...
April 17, 2018: Current Pharmaceutical Biotechnology
https://www.readbyqxmd.com/read/29667321/the-ethanol-extraction-of-prepared-psoralea-corylifolia-induces-apoptosis-and-autophagy-and-alteres-genes-expression-assayed-by-cdna-microarray-in-human-prostate-cancer-pc-3-cells
#4
Chia-Hsin Lin, Shinji Funayama, Shu-Fen Peng, Chao-Lin Kuo, Jing-Gung Chung
Prostate cancer is the most common male reproductive system cancer. The prevalence of prostate cancer in Europe and the United States is higher than that in the Asian region. However, the treatment of prostate cancer remains unsatisfactory. Psoralea corylifolia has been used to cure this disease as Chinese medicine in the Asian region. In this study, we analyzed the components of ethanol extraction of unprepared and prepared P. corylifolia by HPLC. Psoralen and isopsoralen content from the prepared P. corylifolia is twofold higher than that from unprepared, so we use the prepared extraction in this study...
April 18, 2018: Environmental Toxicology
https://www.readbyqxmd.com/read/29667038/complex-drug-drug-gene-disease-interactions-involving-cytochromes-p450-systematic-review-of-published-case-reports-and-clinical-perspectives
#5
REVIEW
Flavia Storelli, Caroline Samer, Jean-Luc Reny, Jules Desmeules, Youssef Daali
Drug pharmacokinetics (PK) is influenced by multiple intrinsic and extrinsic factors, among which concomitant medications are responsible for drug-drug interactions (DDIs) that may have a clinical relevance, resulting in adverse drug reactions or reduced efficacy. The addition of intrinsic factors affecting cytochromes P450 (CYPs) activity and/or expression, such as genetic polymorphisms and diseases, may potentiate the impact and clinical relevance of DDIs. In addition, greater variability in drug levels and exposures has been observed when such intrinsic factors are present in addition to concomitant medications perpetrating DDIs...
April 17, 2018: Clinical Pharmacokinetics
https://www.readbyqxmd.com/read/29667012/bone-marrow-adipocyte-developmental-origin-and-biology
#6
REVIEW
Joanna Bukowska, Trivia Frazier, Stanley Smith, Theodore Brown, Robert Bender, Michelle McCarthy, Xiying Wu, Bruce A Bunnell, Jeffrey M Gimble
PURPOSE OF REVIEW: This review explores how the relationships between bone marrow adipose tissue (BMAT) adipogenesis with advancing age, obesity, and/or bone diseases (osteopenia or osteoporosis) contribute to mechanisms underlying musculoskeletal pathophysiology. RECENT FINDINGS: Recent studies have re-defined adipose tissue as a dynamic, vital organ with functions extending beyond its historic identity restricted solely to that of an energy reservoir or sink. "State of the art" methodologies provide novel insights into the developmental origin, physiology, and function of different adipose tissue depots...
April 18, 2018: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/29667006/establishment-and-characterization-of-a-c57bl-6-mouse-model-of-bone-metastasis-of-breast-cancer
#7
Toru Hiraga, Tadashi Ninomiya
Bone is one of the most common sites of metastasis in patients with advanced breast cancer; however, the mechanisms of bone metastasis remain to be fully elucidated. Animal models are essential research tools for investigating the mechanisms of diseases and drug actions. To date, there have only been a few reports in which C57BL/6 mice were used for the study of bone metastases of breast cancer. In the current study, we found that intracardiac inoculation of C57BL/6 mouse-derived parental E0771 breast cancer cells (E0771/Pa) frequently lead to bone metastases in C57BL/6 mice within 2 weeks...
April 17, 2018: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/29666970/histopathological-and-molecular-predictors-of-growth-patterns-and-recurrence-in-craniopharyngiomas-a-systematic-review
#8
REVIEW
Josephine R Coury, Brittany N Davis, Christoforos P Koumas, Giovanna S Manzano, Amir R Dehdashti
Craniopharyngiomas (CPs) are rare, benign tumors derived from Rathke's pouch, known for their high recurrence rates and associated morbidity and mortality. Despite significant investigation on risk factors for recurrence, a lack of consensus persists. Recent research suggests that specific histopathological and molecular characteristics are prognostic for disease progression. In this systematic review, we analyzed and consolidated key features of CPs that contribute to increased recurrence rates. This systematic review was performed in accordance with PRISMA guidelines...
April 17, 2018: Neurosurgical Review
https://www.readbyqxmd.com/read/29666959/carney-complex-a-case-with-thyroid-follicular-adenoma-without-a-prkar1a-mutation
#9
Shinji Hattori, Yukou Yamane, Ryoichi Shimomura, Yuki Uchida, Nobuhiko Toyota, Yoshio Miura, Setsujyo Shiota, Yoshitsugu Tajima
BACKGROUND: Carney complex (CNC) is a very rare disease. Although thyroid lesions are included in the diagnostic criteria for CNC, they are an infrequent occurrence. CASE PRESENTATION: The patient was a 69-year-old woman who had undergone the removal of a left atrial myxoma 10 years earlier, at the age of 59. At the time of the operation, thyroid ultrasonography (US) revealed multiple hypoechoic nodules. Thyroid scintigraphy revealed an increased uptake of 99m Tc in these lesions, which was consistent with toxic multinodular goiter, and she was diagnosed with CNC...
April 17, 2018: Surgical Case Reports
https://www.readbyqxmd.com/read/29666700/oil-palm-phenolics-inhibit-the-in-vitro-aggregation-of-%C3%AE-amyloid-peptide-into-oligomeric-complexes
#10
Robert P Weinberg, Vera V Koledova, Hyeari Shin, Jennifer H Park, Yew Ai Tan, Anthony J Sinskey, Ravigadevi Sambanthamurthi, ChoKyun Rha
Alzheimer's disease is a severe neurodegenerative disease characterized by the aggregation of amyloid- β peptide (A β ) into toxic oligomers which activate microglia and astrocytes causing acute neuroinflammation. Multiple studies show that the soluble oligomers of A β 42 are neurotoxic and proinflammatory, whereas the monomers and insoluble fibrils are relatively nontoxic. We show that A β 42 aggregation is inhibited in vitro by oil palm phenolics (OPP), an aqueous extract from the oil palm tree (Elaeis guineensis) ...
2018: International Journal of Alzheimer's Disease
https://www.readbyqxmd.com/read/29666641/brief-overview-of-a-decade-of-genome-wide-association-studies-on-primary-hypertension
#11
REVIEW
Afifah Binti Azam, Elena Aisha Binti Azizan
Primary hypertension is widely believed to be a complex polygenic disorder with the manifestation influenced by the interactions of genomic and environmental factors making identification of susceptibility genes a major challenge. With major advancement in high-throughput genotyping technology, genome-wide association study (GWAS) has become a powerful tool for researchers studying genetically complex diseases. GWASs work through revealing links between DNA sequence variation and a disease or trait with biomedical importance...
2018: International Journal of Endocrinology
https://www.readbyqxmd.com/read/29666604/the-association-of-sj%C3%A3-gren-syndrome-and-autoimmune-thyroid-disorders
#12
REVIEW
Chiara Baldini, Francesco Ferro, Marta Mosca, Poupak Fallahi, Alessandro Antonelli
Sjögren's syndrome (SS) and autoimmune thyroid diseases (AITD) may frequently coexist in clinical practice, resulting in a complex overlapping disorder that represents a particular example of the expression of heterogeneity in patients with autoimmune disorders. Objective of this review was to describe the prevalence of the SS-AITD association in the most recent literature, exploring in particular to what extent the presence of AITD might influence the clinical expression of SS and vice versa . Moreover, we summarized some of the proposed genetic, biologic, and molecular mechanisms implied in the pathogenesis of AITD-SS association...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29666464/an-adolescence-onset-male-leukoencephalopathy-with-remarkable-cerebellar-atrophy-and-novel-compound-heterozygous-aars2-gene-mutations-a-case-report
#13
Qing Dong, Ling Long, Yan-Yu Chang, Yan-Jun Lin, Mei Liu, Zheng-Qi Lu
Mutations in the mitochondrial alanyl-transfer (t)RNA synthetase 2 (AARS2; OMIM 612035) have been linked to leukoencephalopathy recently. Until now, there have been only 13 cases reported in the literature. Hence, the clinical and genetic characteristics of this disease are not fully understood. Here, we reported an adolescence-onset male leukoencephalopathy patient characterized by progressive limb tremor at the age of 17 years. He had no signs of a cardiomyopathy. Magnetic resonance imaging scanning demonstrated severe cerebellar atrophy and white matter abnormalities involving descending tracts...
April 17, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29666434/stable-transformation-of-babesia-bigemina-and-babesia-bovis-using-a-single-transfection-plasmid
#14
Marta G Silva, Donald P Knowles, Monica L Mazuz, Brian M Cooke, Carlos E Suarez
Babesia bigemina and Babesia bovis, are the two major causes of bovine babesiosis, a global neglected disease in need of improved methods of control. Here, we describe a shared method for the stable transfection of these two parasites using electroporation and blasticidin/blasticidin deaminase as a selectable marker. Stably transfected B. bigemina and B. bovis were obtained using a common transfection plasmid targeting the enhanced green fluorescent protein-BSD (egfp-bsd) fusion gene into the elongation factor-1α (ef-1α) locus of B...
April 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29666392/synthetic-9-cis-beta-carotene-inhibits-photoreceptor-degeneration-in-cultures-of-eye-cups-from-rpe65rd12-mouse-model-of-retinoid-cycle-defect
#15
Ifat Sher, Adi Tzameret, Sara Peri-Chen, Victoria Edelshtain, Michael Ioffe, Alon Sayer, Ludmila Buzhansky, Ehud Gazit, Ygal Rotenstreich
The retinoid cycle enzymes regenerate the visual chromophore 11-cis retinal to enable vision. Mutations in the genes encoding the proteins of the retinoid cycle are the leading cause for recessively inherited retinal dystrophies such as retinitis pigmentosa, Leber congenital amaurosis, congenital cone-rod dystrophy and fundus albipunctatus. Currently there is no treatment for these blinding diseases. In previous studies we demonstrated that oral treatment with the 9-cis-β-carotene rich Dunaliella Bardawil algae powder significantly improved visual and retinal functions in patients with retinitis pigmentosa and fundus albipunctatus...
April 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29666355/therapeutic-avenues-for-hereditary-forms-of-retinal-blindness
#16
Chitra Kannabiran, Indumathi Mariappan
Hereditary retinal diseases, known as retinal degenerations or dystrophies, are a large group of inherited eye disorders resulting in irreversible visual loss and blindness. They develop due to mutations in one or more genes that lead to the death of the retinal photoreceptor cells. Till date, mutations in over 200 genes are known to be associated with all different forms of retinal disorders. The enormous genetic heterogeneity of this group of diseases has posedmany challenges in understanding the mechanisms of disease and in developing suitable therapies...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29666349/genetic-disease-in-india-and-the-west-compared-provisional-analysis-of-population-dynamics
#17
Nicholas Mitchison, Timothy Mitchison
The Indian Genetic Disease Database (IGDD) and Online Mendelian Inheritance in Man (OMIM) survey human populations that have different climate histories. Comparison of the two shows an outstanding difference in the relative frequency of recessive disease genes. Several of the diseases mediated at least in part by recessive gene mutations in India are not so mediated in the Western populations covered by OMIM, or are so mediated to a lesser extent. This we attribute to climate history, where population fall leading to inbreeding in the last ice age appears to have reduced the frequency of recessive disease genes in the Western world...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29666331/isolation-and-characterization-of-the-major-histocompatibility-complex-dqa1-and-dqa2-genes-in-gayal-bos-frontalis
#18
Sameeullah Memon, Liping Wang, Guozhi Li, Xiangying Liu, Weidong Deng, Dongmei Xi
The species origin of Yunnan gayal has been controversial since many years. However, few recent genetic studies have suggested that it has perhaps originated from the hybridization between male Bos frontalis and female B. taurus or B. indicus. Being an important semi-wild bovid species, this has also been listed under the red list of International Union of Conservation of Nature and Natural Resources. However, there is limited information available about the immunogenicity of this precarious species of Bos...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29666327/association-analysis-of-multiple-traits-by-an-approach-of-combining-p-values
#19
Lili Chen, Yong Wang, Yajing Zhou
Increasing evidence shows that one variant can affect multiple traits, which is a widespread phenomenon in complex diseases. Joint analysis of multiple traits can increase statistical power of association analysis and uncover the underlying genetic mechanism. Although there are many statistical methods to analyse multiple traits, most of these methods are usually suitable for detecting common variants associated with multiple traits. However, because of low minor allele frequency of rare variant, these methods are not optimal for rare variant association analysis...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29666326/elucidation-of-diversity-among-f-1-hybrids-to-examine-heterosis-and-genetic-inheritance-for-horticultural-traits-and-tolcv-resistance-in-tomato
#20
Ramesh K Singh, N Rai, Amareesh K Singh, Prashant Kumar, T Chaubey, B Singh, Satya N Singh
Genetic diversity during prebreeding or postbreeding programme, is the key pillar to characterize the valuable traits and gene of interest. Whereas, superior or inferior heterotic performance of F1 depend on the diverse nature of their pedigree. Therefore, the aim of this study was to see the diversity between the interspecific crosses and effect of heterosis, and inheritance for the morphological traits and ToLCV resistance. All the 24 F1 interspecific crosses were classified into four clusters on the basis of morphological traitsas well as simple sequence repeat (SSR) markers...
March 2018: Journal of Genetics
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