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https://www.readbyqxmd.com/read/29232625/prenatal-detection-of-trisomy-8-mosaicism-pregnancy-outcome-and-follow-up-of-a-series-of-17-consecutive-cases
#1
Matteo Cassina, Annapaola Calò, Leonardo Salviati, Alberta Alghisi, Annamaria Montaldi, Maurizio Clementi
OBJECTIVE: To study the outcome of a series of individuals with prenatal detection of trisomy 8 mosaicism by chorionic villus sampling (CVS) and/or amniocentesis. STUDY DESIGN: The databases of two Italian genetics units were reviewed to identify all consultations requested during pregnancy because of trisomy 8 mosaicism. To evaluate the pregnancy outcome, the regional registry of congenital malformations (including terminations of pregnancies) was consulted; additional follow-up data were collected by a telephone interview...
December 7, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29232624/genomic-form-of-rhodopsin-dna-nanoparticles-rescued-autosomal-dominant-retinitis-pigmentosa-in-the-p23h-knock-in-mouse-model
#2
Rajendra Narayan Mitra, Min Zheng, Ellen R Weiss, Zongchao Han
Retinitis pigmentosa (RP) is a group of inherited retinal degenerative conditions and a leading cause of irreversible blindness. 25%-30% of RP cases are caused by inherited autosomal dominant (ad) mutations in the rhodopsin (Rho) protein of the retina, which impose a barrier for developing therapeutic treatments for this genetically heterogeneous disorder, as simple gene replacement is not sufficient to overcome dominant disease alleles. Previously, we have explored using the genomic short-form of Rho (sgRho) for gene augmentation therapy of RP in a Rho knockout mouse model...
December 5, 2017: Biomaterials
https://www.readbyqxmd.com/read/29232261/long-chain-omega-3-fatty-acids-and-cancer-any-cause-for-concern
#3
Simona Serini, Gabriella Calviello
PURPOSE OF REVIEW: Recently, concerns have been raised with regard to the recommended doses of marine long-chain omega-3 polyunsaturated fatty acids (LC-omega-3 PUFAs) especially in relation to cancer risk and treatment. There is urgent need to clarify this point. This review considers the most recent evidence related to the potential risk of developing cancer with high LC-omega-3 PUFA intakes, and possible research strategies to better elucidate this matter. RECENT FINDINGS: The latest published recommendations have still highlighted the usefulness of an increased dietary intake of LC-omega-3 PUFAs for the prevention of some cardiovascular diseases...
December 11, 2017: Current Opinion in Clinical Nutrition and Metabolic Care
https://www.readbyqxmd.com/read/29231918/-systemic-treatment-of-early-breast-cancer-current-state-of-knowledge-after-the-conference-st-gallen-2017
#4
REVIEW
Tomasz Sarosiek
Breast cancer is the most commonly diagnosed malignancy in women around the globe. It is also the world's first cause of female deaths from cancer. With the introduction of screening programs in most developed countries, more and more cases of this cancer are diagnosed at local or localized stages, enabling radical treatment to be successful. At the same time, systemic treatment of early breast cancer is one of the most complex issues in clinical oncology. Because of the many prognostic factors that need to be taken into account when considering eligibility for treatment such as age, reproductive status (before or after menopause), type of cancer and severity of the disease, it is impossible to establish clear standards of conduct for many clinical situations...
November 23, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29231893/hypertrophic-cardiomyopathy-past-present-and-future
#5
REVIEW
Alphonsus C Liew, Vassilios S Vassiliou, Robert Cooper, Claire E Raphael
Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiomyopathy with a prevalence of 1 in 500 in the general population. Since the first pathological case series at post mortem in 1957, we have come a long way in its understanding, diagnosis and management. Here, we will describe the history of our understanding of HCM including the initial disease findings, diagnostic methods and treatment options. We will review the current guidelines for the diagnosis and management of HCM, current gaps in the evidence base and discuss the new and promising developments in this field...
December 12, 2017: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/29231892/assessment-of-plumage-and-integument-condition-in-dual-purpose-breeds-and-conventional-layers
#6
Mona Franziska Giersberg, Birgit Spindler, Nicole Kemper
The assessment of plumage and integument condition in laying hens provides useful information about the occurrence of feather pecking and cannibalism. Although feather loss and skin injuries can result from mechanical abrasion or clinical diseases, they are valid animal-based indicators for behavioural disorders. This particularly applies to damage on the back and tail region of the hens. The aim was to evaluate the behaviour of dual-purpose breeds (Lohmann Dual, LD) and conventional layer hybrids (Lohmann Brown plus, LB+), and to compare a mere visual assessment (Visual Scoring, VSc), with a method involving the handling of individual animals (Hands-on Scoring, HSc)...
December 12, 2017: Animals: An Open Access Journal From MDPI
https://www.readbyqxmd.com/read/29231813/evolutionary-transitions-between-beneficial-and-phytopathogenic-rhodococcus-challenge-disease-management
#7
Elizabeth A Savory, Skylar L Fuller, Alexandra J Weisberg, William J Thomas, Michael I Gordon, Danielle M Stevens, Allison L Creason, Michael S Belcher, Maryna Serdani, Michele S Wiseman, Niklaus J Grünwald, Melodie L Putnam, Jeff H Chang
Understanding how bacteria affect plant health is crucial for developing sustainable crop production systems. We coupled ecological sampling and genome sequencing to characterize the population genetic history of Rhodococcus and the distribution patterns of virulence plasmids in isolates from nurseries. Analysis of chromosome sequences shows that plants host multiple lineages of Rhodococcus, and suggested that these bacteria are transmitted due to independent introductions, reservoir populations, and point source outbreaks...
December 12, 2017: ELife
https://www.readbyqxmd.com/read/29231761/a-rapid-method-to-identify-salmonella-enterica-serovar-gallinarum-biovar-pullorum-using-a-specific-target-gene-ipaj
#8
Lijuan Xu, Zijian Liu, Yang Li, Chao Yin, Yachen Hu, Xiaolei Xie, Qiuchun Li, Xinan Jiao
Salmonella enterica serovar Gallinarum biovar Pullorum (S. Pullorum) is the pathogen of pullorum disease, which leads to severe economic losses in many developing countries. Traditional methods to identify S. enterica have relied on biochemical reactions and serotyping, which are time-consuming with accurate identification if properly carried out. In this study, we developed a rapid polymerase chain reaction (PCR) method targeting the specific gene ipaJ to detect S. Pullorum. Among the 650 S. Pullorum strains isolated from 1962 to 2016 all over China, 644 strains were identified to harbor ipaJ gene in the plasmid pSPI12 accounting to a detection rate of 99...
December 12, 2017: Avian Pathology: Journal of the W.V.P.A
https://www.readbyqxmd.com/read/29231167/glucose-inhibits-cardiac-muscle-maturation-through-nucleotide-biosynthesis
#9
Haruko Nakano, Itsunari Minami, Daniel Braas, Herman Pappoe, Xiuju Wu, Addelynn Sagadevan, Laurent Vergnes, Kai Fu, Marco Morselli, Christopher Dunham, Xueqin Ding, Adam Z Stieg, James K Gimzewski, Matteo Pellegrini, Peter M Clark, Karen Reue, Aldons J Lusis, Bernard Ribalet, Siavash K Kurdistani, Heather Christofk, Norio Nakatsuji, Atsushi Nakano
The heart switches its energy substrate from glucose to fatty acids at birth, and maternal hyperglycemia is associated with congenital heart disease. However, little is known about how blood glucose impacts heart formation. Using a chemically defined human pluripotent stem-cell-derived cardiomyocyte differentiation system, we found that high glucose inhibits the maturation of cardiomyocytes at genetic, structural, metabolic, electrophysiological, and biomechanical levels by promoting nucleotide biosynthesis through the pentose phosphate pathway...
December 12, 2017: ELife
https://www.readbyqxmd.com/read/29231139/catechol-o-methyltransferase-cognition-and-alzheimer-s-disease
#10
Matea Nikolac Perkovic, Dubravka Svob Strac, Lucija Tudor, Marcela Konjevod, Gordana Nedic Erjavec, Nela Pivac
OBJECTIVE: Cognition is a complex trait representing a set of all mental abilities and processes related to knowledge. Although diverse brain regions are involved, most cognitive processes appear to engage cortical regions. The activity of dopaminergic neurons in prefrontal cortex represents a biological substrate underlying cognitive functions. Alzheimer's disease (AD) is the most frequent dementia associated with cognitive impairments. Cognitive impairment in AD starts slow with discrete deterioration in memory, language, thinking and reasoning, but it progresses into more severe and debilitating cognitive dysfunction...
December 11, 2017: Current Alzheimer Research
https://www.readbyqxmd.com/read/29231134/plant-made-antibodies-properties-and-therapeutic-applications
#11
Tatianamsu Ru V Komarova, Ekaterina V Sheshukova, Yuri L Dorokhov
A cost-effective plant platform for therapeutic monoclonal antibody production is both flexible and scalable. In addition, plant-made antibodies (PMAbs) could be advantageous compared to those produced in animal cells due to the absence of a risk of contamination from nucleic acids or proteins of animal origin. In this review, the various platforms of PMAbs production are described, and the widely used transient expression system based on Agrobacterium-mediated delivery of genetic material into plant cells is discussed in detail...
December 11, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/29231014/-correlation-between-genetic-variants-and-polymorphism-of-caveolin-and-sudden-unexplained-death
#12
F Y Wu, X H Tang, L L Gai, X P Kong, B Hao, E W Huang, H Shi, L H Sheng, L Quan, S P Liu, B Luo
OBJECTIVES: To explore the genetic variation sites of caveolin (CAV) and their correlation with sudden unexplained death (SUD). METHODS: The blood samples were collected from SUD group (71 cases), coronary artery disease (CAD) group (62 cases) and control group (60 cases), respectively. The genome DNA were extracted and sequencing was performed directly by amplifying gene coding region and exon-intron splicing region of CAV1 and CAV3 using PCR...
April 2017: Fa Yi Xue za Zhi
https://www.readbyqxmd.com/read/29231011/-research-progress-of-the-relationship-between-sunds-and-osahs
#13
REVIEW
Y D Wu, L Y Zhang, J D Cheng
Sudden unexplained nocturnal death syndrome (SUNDS) is always a difficulty in forensic medicine researches. Although the development of molecular genetics promotes the etiologic study of SUNDS, the pathogenesis of most such cases is still unclear. Sleep apnea syndrome (SAS) is one of the common forms of sleep disorders, and obstructive sleep apnea hypopnea syndrome (OSAHS) is the most common. In recent years, some domestic and international researches show that OSAHS is related to the development of cardiovascular disease, which may cause cardiac arrhythmia, even sudden death...
February 2017: Fa Yi Xue za Zhi
https://www.readbyqxmd.com/read/29230954/association-between-vitamin-d-receptor-polymorphisms-and-systemic-lupus-erythematosus-in-an-indian-cohort
#14
Harishankar Mahto, Rina Tripathy, Bidyut K Das, Aditya K Panda
AIM: Systemic lupus erythematosus (SLE) is an autoimmune disorder with various clinical manifestations. Susceptibility to development of SLE has been linked to several factors, such as genetic, environmental and hormonal. Vitamin D appears to have a regulatory role on disease manifestation and activity. Vitamin D exerts its effect through vitamin D receptors (VDR). Several studies have demonstrated an association between VDR polymorphisms and susceptibility to SLE in different populations, although the results are still inconclusive...
December 12, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29230882/molecular-profiling-and-genome-wide-analysis-based-on-somatic-copy-number-alterations-in-advanced-colorectal-cancers
#15
Tamotsu Sugai, Yayoi Takahashi, Makoto Eizuka, Ryo Sugimoto, Yasuko Fujita, Wataru Habano, Kouki Otsuka, Akira Sasaki, Eiichiro Yamamoto, Takayuki Matsumoto, Hiromu Suzuki
To characterize somatic alterations in colorectal cancer (CRC), we conducted a genome-scale analysis of 106 CRC specimens. We assessed comprehensive somatic copy number alterations (SCNAs) in these CRC specimens. In addition, we examined microsatellite instability (MSI; low and high), genetic mutations (KRAS, BRAF, TP53, and PIK3CA), and DNA methylation status (classified into low, intermediate, and high type). We stratified molecular alterations in the CRCs using a hierarchical cluster analysis. The examined CRCs could be categorized into 3 subgroups using hierarchical cluster analysis...
December 12, 2017: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/29230819/genetic-inheritance-of-pulp-colour-and-selected-traits-of-cassava-manihot-esculenta-crantz-at-early-generation-selection
#16
Athanase Nduwumuremyi, Rob Melis, Paul Shanahan, Asiimwe Theodore
BACKGROUND: The early generation selection of cassava quantitative and qualitative traits saves breeding resources as it can shorten breeding schemes. The inheritance analysis provides important breeding information for developing new improved varieties. This study aimed at developing an F1 segregating cassava population and determining mode of gene action of pulp colour and selected traits at early generation selection (F1 seedling and clones). RESULTS: The fifteen families exhibited significant (p<0...
December 12, 2017: Journal of the Science of Food and Agriculture
https://www.readbyqxmd.com/read/29230714/obesity-phenotypes-depot-differences-in-adipose-tissue-and-their-clinical-implications
#17
REVIEW
Valeria Guglielmi, Paolo Sbraccia
Obesity, defined as excess fat mass, increases risks for multiple chronic diseases, such as type 2 diabetes, cardiovascular disease, and several types of cancer. Beyond adiposity per se, the pattern of fat distribution, android or truncal as compared to gynoid or peripheral, has a profound influence on systemic metabolism and hence risk for obesity complications. Not only factors as genetics, environment, gender, and age account for the apparent compartmentalization of white adipose tissue (WAT) in the body...
December 11, 2017: Eating and Weight Disorders: EWD
https://www.readbyqxmd.com/read/29230699/predictive-psychiatric-genetic-testing-in-minors-an-exploration-of-the-non-medical-benefits
#18
Arianna Manzini, Danya F Vears
Predictive genetic testing for susceptibility to psychiatric conditions is likely to become part of standard practice. Because the onset of most psychiatric diseases is in late adolescence or early adulthood, testing minors could lead to early identification that may prevent or delay the development of these disorders. However, due to their complex aetiology, psychiatric genetic testing does not provide the immediate medical benefits that current guidelines require for testing minors. While several authors have argued non-medical benefits may play a crucial role in favour of predictive testing for other conditions, little research has explored such a role in psychiatric disorders...
December 11, 2017: Journal of Bioethical Inquiry
https://www.readbyqxmd.com/read/29230672/the-role-of-b-cell-maturation-antigen-in-the-biology-and-management-of-and-as-a-potential-therapeutic-target-in-multiple-myeloma
#19
Eric Sanchez, Emily J Smith, Moryel A Yashar, Saurabh Patil, Mingjie Li, Autumn L Porter, Edward J Tanenbaum, Remy E Schlossberg, Camilia M Soof, Tara Hekmati, George Tang, Cathy S Wang, Haiming Chen, James R Berenson
B-cell maturation antigen (BCMA) was originally identified as a cell membrane receptor, expressed exclusively on late stage B-cells and plasma cells (PCs). Investigations of BCMA as a target for therapeutic intervention in multiple myeloma (MM) were initiated in 2007, using cSG1 as a naked antibody (Ab) as well as an Ab-drug conjugate (ADC) targeting BCMA, ultimately leading to ongoing clinical studies for previously treated MM patients. Since then, multiple companies have developed anti-BCMA-directed ADCs...
December 11, 2017: Targeted Oncology
https://www.readbyqxmd.com/read/29230584/mapping-of-a-major-quantitative-trait-locus-for-bakanae-disease-resistance-in-rice-by-genome-resequencing
#20
Hyeonso Ji, Tae-Ho Kim, Gang-Seob Lee, Hyun-Ju Kang, Seung-Bum Lee, Seok Cheol Suh, Song Lim Kim, Inchan Choi, Jeongho Baek, Kyung-Hwan Kim
Bakanae disease (BD) has emerged as a serious threat in almost all rice cultivation regions worldwide. Nampyeong is a Korean japonica rice variety known to be resistant to BD. In this study, quantitative trait locus (QTL) mapping was performed with F2 and F3 plants derived from a cross between the Nampyeong variety and a susceptible Korean japonica line, DongjinAD. First, resequencing of Nampyeong and DongjinAD was performed, which identified 171,035 single nucleotide polymorphisms (SNPs) between the two parental varieties...
December 11, 2017: Molecular Genetics and Genomics: MGG
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