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https://www.readbyqxmd.com/read/28345194/decay-of-the-glycolytic-pathway-and-adaptation-to-intranuclear-parasitism-within-enterocytozoonidae-microsporidia
#1
Dominic Wiredu Boakye, Pattana Jaroenlak, Anuphap Prachumwat, Tom A Williams, Kelly S Bateman, Ornchuma Itsathitphaisarn, Kallaya Sritunyalucksana, Konrad H Paszkiewicz, Karen A Moore, Grant D Stentiford, Bryony A P Williams
Glycolysis and oxidative phosphorylation are the fundamental pathways of ATP generation in eukaryotes. Yet in microsporidia, endoparasitic fungi living at the limits of cellular streamlining, oxidative phosphorylation has been lost: energy is obtained directly from the host or, during the dispersive spore stage, via glycolysis. It was therefore surprising when the first genome from the Enterocytozoonidae - a major family of human and animal-infecting microsporidians - appeared to have lost glycolysis. Here we sequence and analyse genomes from four additional members of this family, shedding new light on their unusual biology...
March 26, 2017: Environmental Microbiology
https://www.readbyqxmd.com/read/28344933/precision-medicine-the-golden-gate-for-detection-treatment-and-prevention-of-alzheimer-s-disease
#2
H Hampel, S E O'Bryant, J I Castrillo, C Ritchie, K Rojkova, K Broich, N Benda, R Nisticò, R A Frank, B Dubois, V Escott-Price, S Lista
During this decade, breakthrough conceptual shifts have commenced to emerge in the field of Alzheimer's disease (AD) recognizing risk factors and the non-linear dynamic continuum of complex pathophysiologies amongst a wide dimensional spectrum of multi-factorial brain proteinopathies/neurodegenerative diseases. As is the case in most fields of medicine, substantial advancements in detecting, treating and preventing AD will likely evolve from the generation and implementation of a systematic precision medicine strategy...
December 2016: Journal of Prevention of Alzheimer's Disease
https://www.readbyqxmd.com/read/28344011/the-epidemiology-pathogenesis-transmission-diagnosis-and-management-of-multidrug-resistant-extensively-drug-resistant-and-incurable-tuberculosis
#3
REVIEW
Keertan Dheda, Tawanda Gumbo, Gary Maartens, Kelly E Dooley, Ruth McNerney, Megan Murray, Jennifer Furin, Edward A Nardell, Leslie London, Erica Lessem, Grant Theron, Paul van Helden, Stefan Niemann, Matthias Merker, David Dowdy, Annelies Van Rie, Gilman K H Siu, Jotam G Pasipanodya, Camilla Rodrigues, Taane G Clark, Frik A Sirgel, Aliasgar Esmail, Hsien-Ho Lin, Sachin R Atre, H Simon Schaaf, Kwok Chiu Chang, Christoph Lange, Payam Nahid, Zarir F Udwadia, C Robert Horsburgh, Gavin J Churchyard, Dick Menzies, Anneke C Hesseling, Eric Nuermberger, Helen McIlleron, Kevin P Fennelly, Eric Goemaere, Ernesto Jaramillo, Marcus Low, Carolina Morán Jara, Nesri Padayatchi, Robin M Warren
Global tuberculosis incidence has declined marginally over the past decade, and tuberculosis remains out of control in several parts of the world including Africa and Asia. Although tuberculosis control has been effective in some regions of the world, these gains are threatened by the increasing burden of multidrug-resistant (MDR) and extensively drug-resistant (XDR) tuberculosis. XDR tuberculosis has evolved in several tuberculosis-endemic countries to drug-incurable or programmatically incurable tuberculosis (totally drug-resistant tuberculosis)...
March 15, 2017: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/28343954/a-new-whole-mitochondrial-genome-qpcr-wmg-qpcr-with-sybr-green-%C3%A2-to-identify-phlebotomine-sand-fly-blood-meals
#4
Ana Caroline Moura Rodrigues, Rafaela Damasceno Magalhães, Kalil Andrade Mubarac Romcy, Jeferson Lucas Sousa Freitas, Ana Carolina Fonseca Lindoso Melo, Fernanda Cristina Macedo Rodon, Claudia Maria Leal Bevilaqua, Luciana Magalhães Melo
Phlebotomine sand flies are blood-feeding insects of marked medical and veterinary significance. Investigations on the biology of these insects hold great importance for both ecological and epidemiological purposes. The present work describes a new approach for real-time PCR (qPCR) with SYBR Green(®), named WMG-qPCR, to identify phlebotomine blood meals. The novelty of the assay was to design primers based on the Whole Mitochondrial Genome (WMG) of the potential hosts (human, dog, cat, brown rat and chicken) aiming to amplify through qPCR the regions of mitochondrial DNA (mtDNA) which are less conserved among all species...
March 9, 2017: Veterinary Parasitology
https://www.readbyqxmd.com/read/28340620/stable-high-level-expression-of-factor-viii-in-chinese-hamster-ovary-cells-in-improved-elongation-factor-1-alpha-based-system
#5
Nadezhda A Orlova, Sergey V Kovnir, Alexandre G Gabibov, Ivan I Vorobiev
BACKGROUND: Recombinant factor VIII (FVIII), used for haemophilia A therapy, is one of the most challenging among the therapeutic proteins produced in heterologous expression systems. Deletion variant of FVIII, in which the entire domain B is replaced by a short linker peptide, was approved for medical use. Efficacy and safety of this FVIII deletion variant are similar to full-length FVIII preparations while the level of production in CHO cells is substantially higher. Typical levels of productivity for CHO cell lines producing deletion variant FVIII-BDD SQ, described elsewhere, are 0...
March 24, 2017: BMC Biotechnology
https://www.readbyqxmd.com/read/28339689/genomic-decision-support-needs-in-pediatric-primary-care
#6
Jeffrey W Pennington, Dean J Karavite, Edward M Krause, Jeffrey Miller, Barbara A Bernhardt, Robert W Grundmeier
Clinical genome and exome sequencing can diagnose pediatric patients with complex conditions that often require follow-up care with multiple specialties. The American Academy of Pediatrics emphasizes the role of the medical home and the primary care pediatrician in coordinating care for patients who need multidisciplinary support. In addition, the electronic health record (EHR) with embedded clinical decision support is recognized as an important component in providing care in this setting. We interviewed 6 clinicians to assess their experience caring for patients with complex and rare genetic findings and hear their opinions about how the EHR currently supports this role...
February 19, 2017: Journal of the American Medical Informatics Association: JAMIA
https://www.readbyqxmd.com/read/28339459/functional-classification-of-dna-variants-by-hybrid-minigenes-identification-of-30-spliceogenic-variants-of-brca2-exons-17-and-18
#7
Eugenia Fraile-Bethencourt, Beatriz Díez-Gómez, Valeria Velásquez-Zapata, Alberto Acedo, David J Sanz, Eladio A Velasco
Mutation screening of the breast cancer genes BRCA1 and BRCA2 identifies a large fraction of variants of uncertain clinical significance (VUS) whose functional and clinical interpretations pose a challenge for genomic medicine. Likewise, an increasing amount of evidence indicates that genetic variants can have deleterious effects on pre-mRNA splicing. Our goal was to investigate the impact on splicing of a set of reported variants of BRCA2 exons 17 and 18 to assess their role in hereditary breast cancer and to identify critical regulatory elements that may constitute hotspots for spliceogenic variants...
March 24, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28338110/frequency-of-the-ugt1a1-28-polymorphism-in-a-romanian-cohort-of-gilbert-syndrome-individuals
#8
Viorica E Radoi, Radu I Ursu, Elena Poenaru, Cosmin Arsene, Camil L Bohiltea, Roxana Bohiltea
BACKGROUND AND AIMS: Gilbert syndrome (GS) is characterized by unconjugated hyperbilirubinemia without liver disease or overt hemolysis and it is found in 3-10% of the general population. Inherited hyperbilirubinaemia is attributable to a reduced UGT1A1 activity. The UGT1A1 promoter (TA) repeats variants are documented of being involved in abnormally elevated bilirubin levels. The aim of the present study is to analyze the impact of UGT1A1 promoter variants on bilirubin levels in Romanian patients clinically supected with GS...
March 2017: Journal of Gastrointestinal and Liver Diseases: JGLD
https://www.readbyqxmd.com/read/28336271/helminth-secretomes-reflect-different-lifestyles-and-parasitized-hosts
#9
Yesid Cuesta-Astroz, Francislon Silva de Oliveira, Laila Alves Nahum, Guilherme Oliveira
Helminths cause a number of medical and agricultural problems and are a major cause of parasitic infections in humans, animals and plants. Comparative analysis of helminth genes and genomes are important to understand the genomic biodiversity and evolution of parasites and their hosts in terms of different selective pressures in their habitats. The interactions between the infective organisms and their hosts are mediated in large part by secreted proteins, known collectively as the "secretome". Proteins secreted by parasites are able to modify a host's environment and modulate their immune system...
March 20, 2017: International Journal for Parasitology
https://www.readbyqxmd.com/read/28334025/hla-expression-and-hla-type-associations-in-relation-to-ebv-status-in-hispanic-hodgkin-lymphoma-patients
#10
Luke B Fletcher, Rianne N Veenstra, Eric Y Loo, Amie E Hwang, Imran N Siddiqi, Lydia Visser, Bouke G Hepkema, Ilja M Nolte, Anke van den Berg, Wendy Cozen, Arjan Diepstra
A proportion of classical Hodgkin lymphomas harbor the Epstein Barr virus (EBV). We previously demonstrated that associations between Human Leukocyte Antigen (HLA) alleles and susceptibility to EBV+ classical Hodgkin lymphoma differ between European and Chinese populations. Data on Hispanic populations is missing. Here we examined the association between HLA type, tumor cell HLA expression and other characteristics in Hispanic Hodgkin lymphoma patients. Hispanic Hodgkin lymphoma patients diagnosed at the Los Angeles County-University of Southern California Medical Center from 2000-2012 were included (n = 65)...
2017: PloS One
https://www.readbyqxmd.com/read/28333320/cross-resistance-to-lincosamides-streptogramins-a-and-pleuromutilins-in-streptococcus-agalactiae-isolates-from-the-usa
#11
Paulina A Hawkins, Caitlin S Law, Benjamin J Metcalf, Sopio Chochua, Delois M Jackson, Lars F Westblade, Robert Jerris, Bernard W Beall, Lesley McGee
Background: Streptococcus agalactiae (Group B Streptococcus, GBS) is a leading cause of meningitis, sepsis and pneumonia in neonates in the United States. GBS also causes invasive disease in older infants, pregnant women, children and young adults with underlying medical conditions, and older adults. Resistance to lincosamides in the absence of erythromycin resistance is rare in GBS, but has been previously reported in clinical isolates, both on its own or in combination with resistance to streptogramins A and pleuromutilins (L/LSA/LSAP phenotypes)...
March 13, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28333245/euploidy-rates-in-donor-egg-cycles-significantly-differ-between-fertility-centers
#12
S Munné, M Alikani, L Ribustello, P Colls, Pedro A Martínez-Ortiz, D H McCulloh
STUDY QUESTION: Do external factors affect euploidy in egg donor cycles? SUMMARY ANSWER: The study demonstrates that during human assisted reproduction, embryonic chromosome abnormalities may be partly iatrogenic. WHAT IS KNOWN ALREADY: Chromosome abnormalities have been linked in the past to culture conditions such as temperature and Ph variations, as well as hormonal stimulation. Those reports were performed with older screening techniques (FISH), or ART methods no longer in use, and the subjects studied were not a homogeneous group...
March 2, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28333195/genome-wide-genetic-analyses-highlight-mitogen-activated-protein-kinase-mapk-signaling-in-the-pathogenesis-of-endometriosis
#13
Outi Uimari, Nilufer Rahmioglu, Dale R Nyholt, Katy Vincent, Stacey A Missmer, Christian Becker, Andrew P Morris, Grant W Montgomery, Krina T Zondervan
STUDY QUESTION: Do genome-wide association study (GWAS) data for endometriosis provide insight into novel biological pathways associated with its pathogenesis? SUMMARY ANSWER: GWAS analysis uncovered multiple pathways that are statistically enriched for genetic association signals, analysis of Stage A disease highlighted a novel variant in MAP3K4, while top pathways significantly associated with all endometriosis and Stage A disease included several mitogen-activated protein kinase (MAPK)-related pathways...
February 9, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28329071/association-of-mild-obstructive-sleep-apnea-with-cognitive-performance-excessive-daytime-sleepiness-and-quality-of-life-in-the-general-population-the-korean-genome-and-epidemiology-study-koges
#14
Hyun Kim, Robert J Thomas, Chang-Ho Yun, Rhoda Au, Seung Ku Lee, Sunghee Lee, Chol Shin
Study Objectives: Research points to impaired cognitive performance in sleep clinic patients with obstructive sleep apnea (OSA). However, inconsistent findings from various epidemiologic studies make this relationship less generalizable. The current study investigated the association between OSA functional outcome measures, such as cognition, daytime sleepiness, and quality of life, in a Korean general population sample. Methods: A total of 1,492 participants from the Korean Genome and Epidemiology Study (KoGES) were included in the analyses...
January 28, 2017: Sleep
https://www.readbyqxmd.com/read/28326064/contribution-of-ultra-deep-sequencing-in-the-clinical-diagnosis-of-a-new-fungal-pathogen-species-basidiobolus-meristosporus
#15
Emilie Sitterlé, Christophe Rodriguez, Roman Mounier, Julien Calderaro, Françoise Foulet, Michel Develoux, Jean-Michel Pawlotsky, Françoise Botterel
Some cases of fungal infection remained undiagnosed, especially when the pathogens are uncommon, require specific conditions for in vitro growth, or when several microbial species are present in the specimen. Ultra-Deep Sequencing (UDS) could be considered as a precise tool in the identification of involved pathogens in order to upgrade patient treatment. In this study, we report the implementation of UDS technology in medical laboratory during the follow-up of an atypical fungal infection case. Thanks to UDS technology, we document the first case of gastro-intestinal basidiobolomycosis (GIB) due to Basidiobolus meristosporus...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28325848/hierarchically-aligning-10-legume-genomes-establishes-a-family-level-genomics-platform
#16
Jinpeng Wang, Pengchuan Sun, Yuxian Li, Yinzhe Liu, Jigao Yu, Xuelian Ma, Sangrong Sun, Nanshan Yang, Ruiyan Xia, Tianyu Lei, Xiaojian Liu, Beibei Jiao, Yue Xing, Weina Ge, Li Wang, Zhenyi Wang, Xiaoming Song, Min Yuan, Di Guo, Lan Zhang, Jiaqi Zhang, Dianchuan Jin, Wei Chen, Yuxin Pan, Tao Liu, Ling Jin, Jinshuai Sun, Jiaxiang Yu, Rui Cheng, Xueqian Duan, Shaoqi Shen, Jun Qin, Mengchen Zhang, Andrew H Paterson, Xiyin Wang
Mainly due to their economic importance, genomes of 10 legumes, including soybean, wild peanuts, barrel medic, etc, have been sequenced. However, a family-level comparative genomics analysis has been unavailable. With grape and selected legume genomes as outgroups, we managed to perform a hierarchical and event-related alignment of these genomes and deconvoluted layers of homologous regions produced by ancestral polyploidizations or speciations. Consequently, we illustrated genomic fractionation characterized by wide-spread gene losses after the polyploidizations...
March 21, 2017: Plant Physiology
https://www.readbyqxmd.com/read/28324015/paternally-inherited-dlk1-deletion-associated-with-familial-central-precocious-puberty
#17
Andrew Dauber, Marina Cunha-Silva, Delanie B Macedo, Vinicius N Brito, Ana Paula Abreu, Stephanie A Roberts, Luciana R Montenegro, Melissa Andrew, Andrew Kirby, Matthew T Weirauch, Guillaume Labilloy, Danielle S Bessa, Rona S Carroll, Dakota C Jacobs, Patrick E Chappell, Berenice B Mendonca, David Haig, Ursula B Kaiser, Ana Claudia Latronico
Context: Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis. Few genetic causes of CPP have been identified with the most common being mutations in the paternally expressed imprinted gene MKRN3. Objective: To identify the genetic etiology of CPP in a large multigenerational family. Design: Linkage analysis followed by whole genome sequencing was performed in a family with 5 female members with nonsyndromic CPP...
January 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28321390/metabonomics-research-progress-on-liver-diseases
#18
REVIEW
Mengqian Yu, Ying Zhu, Qingwei Cong, Chunyan Wu
Metabolomics as the new omics technique develops after genomics, transcriptomics, and proteomics and has rapid development at present. Liver diseases are worldwide public health problems. In China, chronic hepatitis B and its secondary diseases are the common liver diseases. They can be diagnosed by the combination of history, virology, liver function, and medical imaging. However, some patients seldom have relevant physical examination, so the diagnosis may be delayed. Many other liver diseases, such as drug-induced liver injury (DILI), alcoholic liver disease (ALD) and nonalcoholic fatty liver disease (NAFLD), and autoimmune liver diseases, still do not have definite diagnostic markers; the diagnosis consists of history, medical imaging, and the relevant score...
2017: Canadian Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28316881/occurrence-of-concurrent-infections-with-multiple-serotypes-of-dengue-viruses-during-2013-2015-in-northern-kerala-india
#19
Manchala Nageswar Reddy, Ranjeet Dungdung, Lathika Valliyott, Rajendra Pilankatta
BACKGROUND: Dengue is a global human public health threat, causing severe morbidity and mortality. The occurrence of sequential infection by more than one serotype of dengue virus (DENV) is a major contributing factor for the induction of Dengue Hemorrhagic Fever (DHF) and Dengue Shock Syndrome (DSS), two major medical conditions caused by DENV infection. However, there is no specific drug or vaccine available against dengue infection. There are reports indicating the increased incidence of concurrent infection of dengue in several tropical and subtropical regions...
2017: PeerJ
https://www.readbyqxmd.com/read/28316635/epigenetic-mechanisms-of-integrative-medicine
#20
REVIEW
Riya R Kanherkar, Susan E Stair, Naina Bhatia-Dey, Paul J Mills, Deepak Chopra, Antonei B Csoka
Since time immemorial humans have utilized natural products and therapies for their healing properties. Even now, in the age of genomics and on the cusp of regenerative medicine, the use of complementary and alternative medicine (CAM) approaches represents a popular branch of health care. Furthermore, there is a trend towards a unified medical philosophy referred to as Integrative Medicine (IM) that represents the convergence of CAM and conventional medicine. The IM model not only considers the holistic perspective of the physiological components of the individual, but also includes psychological and mind-body aspects...
2017: Evidence-based Complementary and Alternative Medicine: ECAM
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