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https://www.readbyqxmd.com/read/29352757/refractory-heartburn-a-challenging-problem-in-clinical-practice
#1
REVIEW
Gerson Domingues, Joaquim Prado P Moraes-Filho, Ronnie Fass
Gastroesophageal reflux disease (GERD) is a condition which develops when the reflux of stomach contents causes troublesome symptoms and/or complications. Heartburn and regurgitation are the typical symptoms of GERD. The treatment of GERD encompasses lifestyle modifications, pharmacological, endoscopic, and surgical therapy. The majority of the patients respond to 4-8 weeks of proton-pump inhibitors therapy, but 20-42% will demonstrate partial or complete lack of response to treatment. While these patients have been considered as having refractory heartburn, a subset of them does not have GERD or have not been adequately treated...
January 20, 2018: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/29352650/cryptococcus-gattii-genotype-vgiia-infection-imported-from-vancouver-island-to-japan
#2
Tsuyoshi Kitaura, Masamichi Takahashi, Takashi Umeyama, Nozomi Takeshita, Yuichi Katanami, Saho Takaya, Kei Yamamoto, Satoshi Kutsuna, Kayoko Hayakawa, Yasuyuki Kato, Takahiro Yamauchi, Yoshitaka Narita, Yoshitsugu Miyazaki, Norio Ohmagari
A 71-year-old Japanese man with travel history to the Vancouver Island, Canada was diagnosed the pulmonary and central nervous system infections caused by Cryptococcus gattii genotype VGIIa. This is the first imported case of Cryptococcus gattii genotype VGIIa infection from endemic area of North America to Japan. He was recovery with no residual neurological dysfunction by early resection of brain mass and antifungal therapy. Early surgical resection of cerebellar cryptococcoma may shorten the length of induction therapy with antifungal drugs...
January 15, 2018: Journal of Infection and Chemotherapy: Official Journal of the Japan Society of Chemotherapy
https://www.readbyqxmd.com/read/29352617/high-frequency-of-c9orf72-hexanucleotide-repeat-expansion-in-amyotrophic-lateral-sclerosis-patients-from-two-founder-populations-sharing-the-same-risk-haplotype
#3
Orly Goldstein, Mali Gana-Weisz, Beatrice Nefussy, Batel Vainer, Omri Nayshool, Anat Bar-Shira, Bryan J Traynor, Vivian E Drory, Avi Orr-Urtreger
We characterized the C9orf72 hexanucleotide repeat expansion (RE) mutation in amyotrophic lateral sclerosis (ALS) patients of 2 distinct origins, Ashkenazi and North Africa Jews (AJ, NAJ), its frequency, and genotype-phenotype correlations. In AJ, 80% of familial ALS (fALS) and 11% of sporadic ALS carried the RE, a total of 12.9% of all AJ-ALS compared to 0.3% in AJ controls (odds ratio [OR] = 44.3, p < 0.0001). In NAJ, 10% of fALS and 9% of sporadic ALS carried the RE, a total of 9.1% of all NAJ-ALS compared to 1% in controls (OR = 9...
December 27, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29352562/cbs-mutations-are-good-predictors-for-b6-responsiveness-a-study-based-on-the-analysis-of-35-brazilian-classical-homocystinuria-patients
#4
Soraia Poloni, Fernanda Sperb-Ludwig, Taciane Borsatto, Giovana Weber Hoss, Maria Juliana R Doriqui, Emília K Embiruçu, Ney Boa-Sorte, Charles Marques, Chong A Kim, Carolina Fischinger Moura de Souza, Helio Rocha, Marcia Ribeiro, Carlos E Steiner, Carolina A Moreno, Pricila Bernardi, Eugenia Valadares, Osvaldo Artigalas, Gerson Carvalho, Hector Y C Wanderley, Johanna Kugele, Melanie Walter, Lorena Gallego-Villar, Henk J Blom, Ida Vanessa D Schwartz
BACKGROUND: Classical homocystinuria (HCU) is a monogenic disease caused by the deficient activity of cystathionine β-synthase (CβS). The objective of this study was to identify the CBS mutations in Brazilian patients with HCU. METHODS: gDNA samples were obtained for 35 patients (30 families) with biochemically confirmed diagnosis of HCU. All exons and exon-intron boundaries of CBS gene were sequenced. Gene expression analysis by qRT-PCR was performed in six patients...
January 20, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29352517/mirna-binding-site-variants-of-type-2-diabetes-candidate-loci-predispose-to-gestational-diabetes-mellitus-in-chinese-han-women
#5
Xiaojing Wang, Wei Li, Liangkun Ma, Fan Ping, Juntao Liu, Xueyan Wu, Jiangfeng Mao, Xi Wang, Min Nie
AIMS/INTRODUCTION: Emerging evidence suggested that the genetic background of GDM was analogous to T2DM. In contrast to T2DM, the genetic studies for GDM were limited. Accordingly, the aim of this study was to extensively explore the influence of miR-binding-SNPs in T2DM candidate loci on GDM susceptibility in Chinese. METERIALS AND METHODS: A total of 839 GDM and 900 controls were enrolled. Six miR-binding-SNPs were selected from 30 T2DM susceptibility loci and genotyped using TaqMan allelic discrimination assays...
January 20, 2018: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/29352509/molecular-evidence-to-suggest-pigeon-type-chlamydia-psittaci-in-association-with-an-equine-foal-loss
#6
M Jelocnik, C Jenkins, B O'Rourke, J Barnwell, A Polkinghorne
Chlamydia psittaci is an important avian pathogen with spillover from infected wild and domesticated birds also posing a risk to human health. We recently reported a case of C. psittaci equine placentitis associated with further spillover to humans. Molecular typing of this case revealed it belonged to the 6BC clade of C. psittaci, a globally distributed highly virulent set of strains, typically linked to infection spillover from parrots. Equine chlamydiosis associated with C. psittaci infection has previously been reported elsewhere in countries where parrots are not endemic, however, raising questions over the identity of infecting C...
January 19, 2018: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/29352482/influence-of-pharmacogenetic-polymorphisms-and-demographic-variables-on-metformin-pharmacokinetics-in-an-admixed-brazilian-cohort
#7
Ana Beatriz Santoro, Mariana Rodrigues Botton, Claudio José Struchiner, Guilherme Suarez-Kurtz
AIM: To identify pharmacogenetic and demographic variables that influence the systemic exposure to metformin in an admixed Brazilian cohort. METHODS: The extreme discordant phenotype was used to select 106 data sets from nine metformin bioequivalence trials, comprising 256 healthy adults. Eleven single-nucleotide polymorphisms in SLC22A1, SLC22A2, SLC47A1 SLC47A2 and in transcription factor SP1 were genotyped and a validated panel of ancestry informative markers was used to estimate the individual proportions of biogeographical ancestry...
January 20, 2018: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29352429/deciphering-the-environmental-impacts-on-rice-quality-for-different-rice-cultivated-areas
#8
Xiukun Li, Lian Wu, Xin Geng, Xiuhong Xia, Xuhong Wang, Zhengjin Xu, Quan Xu
BACKGROUND: Rice (Oryza sativa L.) is cultivated in a wide range of climatic conditions, and is one of mankind's major staple foods. The interaction of environmental factors with genotype effects major agronomic traits such as yield, quality, and resistance in rice. However, studies on the environmental factors affecting agronomic traits are often difficult to conduct because most environmental factors are dynamic and constantly changing. RESULTS: A series of recombinant inbred lines (RILs) derived from an indica/japonica cross were planted into four typical rice cultivated areas arranging from latitude N22° to N42°...
January 19, 2018: Rice
https://www.readbyqxmd.com/read/29352420/diagnosis-and-management-of-hepatitis-c-infection-in-primary-care-settings
#9
Debra Guss, Jagannath Sherigar, Paul Rosen, Smruti R Mohanty
Hepatitis C virus (HCV) infection is a significant health problem worldwide, and is the leading cause of cirrhosis, hepatocellular carcinoma, and liver transplantation in the United States. The management of HCV has changed significantly over the last 5 years, as treatments have become simpler and more efficacious. Medication efficacy is now greater than 90%, with a high barrier to resistance and few side effects. This review is a collaboration between primary care and hepatology providers to explore all aspects of HCV management: acute versus chronic HCV infection, transmission and testing, and diagnosis and treatment...
January 19, 2018: Journal of General Internal Medicine
https://www.readbyqxmd.com/read/29352395/association-between-crp-genetic-diversity-and-bipolar-disorder-comorbid-complications
#10
Wahid Boukouaci, José Oliveira, Bruno Etain, Meriem Bennabi, Christina Mariaselvam, Nora Hamdani, Céline Manier, Djaouida Bengoufa, Frank Bellivier, Chantal Henry, Jean-Pierre Kahn, Dominique Charron, Rajagopal Krishnamoorthy, Marion Leboyer, Ryad Tamouza
BACKGROUND: Chronic low-grade inflammation is believed to contribute, at least in a subset of patients, to the development of bipolar disorder (BD). In this context, the most investigated biological marker is the acute phase response molecule, C-reactive protein (CRP). While the genetic diversity of CRP was amply studied in various pathological settings, little is known in BD. METHODS: 568 BD patients along with 163 healthy controls (HC) were genotyped for the following single-nucleotide polymorphisms (SNPs) on the CRP gene: intron rs1417938 (+ 29) T/A, 3'-UTR rs1130864 (+ 1444) G/A, and downstream rs1205 (+ 1846) (C/T)...
January 20, 2018: International Journal of Bipolar Disorders
https://www.readbyqxmd.com/read/29352324/efficient-genome-wide-genotyping-strategies-and-data-integration-in-crop-plants
#11
REVIEW
Davoud Torkamaneh, Brian Boyle, François Belzile
Next-generation sequencing (NGS) has revolutionized plant and animal research by providing powerful genotyping methods. This review describes and discusses the advantages, challenges and, most importantly, solutions to facilitate data processing, the handling of missing data, and cross-platform data integration. Next-generation sequencing technologies provide powerful and flexible genotyping methods to plant breeders and researchers. These methods offer a wide range of applications from genome-wide analysis to routine screening with a high level of accuracy and reproducibility...
January 19, 2018: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/29352323/identification-of-a-molecular-marker-tightly-linked-to-bacterial-wilt-resistance-in-tomato-by-genome-wide-snp-analysis
#12
Boyoung Kim, In Sun Hwang, Hyung Jin Lee, Je Min Lee, Eunyoung Seo, Doil Choi, Chang-Sik Oh
Genotyping of disease resistance to bacterial wilt in tomato by a genome-wide SNP analysis Bacterial wilt caused by Ralstonia pseudosolanacearum is one of the destructive diseases in tomato. The previous studies have identified Bwr-6 (chromosome 6) and Bwr-12 (chromosome 12) loci as the major quantitative trait loci (QTLs) contributing to resistance against bacterial wilt in tomato cultivar 'Hawaii7996'. However, the genetic identities of two QTLs have not been uncovered yet. In this study, using whole-genome resequencing, we analyzed genome-wide single-nucleotide polymorphisms (SNPs) that can distinguish a resistant group, including seven tomato varieties resistant to bacterial wilt, from a susceptible group, including two susceptible to the same disease...
January 19, 2018: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/29352136/gphenovision-a-ground-mobile-system-with-multi-modal-imaging-for-field-based-high-throughput-phenotyping-of-cotton
#13
Yu Jiang, Changying Li, Jon S Robertson, Shangpeng Sun, Rui Xu, Andrew H Paterson
Imaging sensors can extend phenotyping capability, but they require a system to handle high-volume data. The overall goal of this study was to develop and evaluate a field-based high throughput phenotyping system accommodating high-resolution imagers. The system consisted of a high-clearance tractor and sensing and electrical systems. The sensing system was based on a distributed structure, integrating environmental sensors, real-time kinematic GPS, and multiple imaging sensors including RGB-D, thermal, and hyperspectral cameras...
January 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29351916/pathways-impacted-by-genomic-alterations-in-pulmonary-carcinoid-tumors
#14
Michael K Asiedu, Charles F Thomas, Jie Dong, Sandra C Schulte Tomaszek, Prasidda Khadka, Zhifu Sun, Farhad Kosari, Jin Jen, Julian R Molina, George Vasmatzis, Rui Kuang, Marie Christine Aubry, Ping Yang, Dennis A Wigle
PURPOSE: Pulmonary carcinoid tumors account for up to 5% of all lung malignancies in adults, comprise 30% of all carcinoid malignancies, and are defined histologically as typical carcinoid (TC) and atypical carcinoid (AC) tumors. The role of specific genomic alterations in the pathogenesis of pulmonary carcinoid tumors remains poorly understood. We sought to identify genomic alterations and pathways that are deregulated in these tumors to find novel therapeutic targets for pulmonary carcinoid tumors...
January 19, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29351816/effects-of-gut-derived-endotoxin-on-anxiety-like-and-repetitive-behaviors-in-male-and-female-mice
#15
Christopher T Fields, Benoit Chassaing, Alexandra Castillo-Ruiz, Remus Osan, Andrew T Gewirtz, Geert J de Vries
BACKGROUND: Gut dysbiosis is observed in several neuropsychiatric disorders exhibiting increases in anxiety behavior, and recent work suggests links between gut inflammation and such disorders. One source of this inflammation may be lipopolysaccharide (LPS), a toxic component of gram-negative bacteria. Here, we (1) determine whether oral gavage of LPS, as a model of gut-derived endotoxemia, affects anxiety-like and/or repetitive behaviors; (2) test whether these changes depend on TLR4 signaling; and (3) test the extent to which gut-derived endotoxin and TLR4 antagonism affects males and females differently...
January 19, 2018: Biology of Sex Differences
https://www.readbyqxmd.com/read/29351739/a-study-of-the-association-of-rs12040273-with-susceptibility-and-severity-of-coronary-artery-disease-in-a-chinese-han-population
#16
Bo Yang, Shan Yan, Jianjun Yan, Yafei Li, Mohammad Reeaze Khurwolah, Liansheng Wang, Zhong Chen
BACKGROUND: The single nucleotide polymorphism (SNP) rs12040273, a variant of UDP-N-acetylgalactosamine, polypeptide GalNAc-transferase 2, has recently been reported to be significantly associated with development of carotid artery intima-media thickness (IMT) in a Chinese population based on a genome-wide association study. Because IMT is a potent marker of coronary artery disease (CAD), the aim of this study was to evaluate the relation of rs12040273 to susceptibility and severity of CAD in a Chinese Han population...
January 19, 2018: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/29351643/genetic-dissection-of-the-fuzzless-seed-trait-in-gossypium-barbadense
#17
Qian-Hao Zhu, Yuman Yuan, Warwick Stiller, Yinhua Jia, Pengpeng Wang, Zhaoe Pan, Xiongming Du, Danny Llewellyn, Iain Wilson
Cotton fibres are single-celled trichomes arising from the epidermal cells of the seed coat and may be either long (lint) or very short (fuzz). The dominant fuzzless N1 of Gossypium hirsutum is a defective allele of the At-subgenome homoeolog of MYB25-like, but the genetic components underlying the recessive fuzzless trait from G. barbadense (Gb) are unknown. We have identified five genetic loci, including a major contributing locus containing MYB25-like_Dt, associated with Gb fuzzless seeds based on genotyping of fuzzy and fuzzless near isogenic lines (NILs) from an interspecies cross (G...
January 17, 2018: Journal of Experimental Botany
https://www.readbyqxmd.com/read/29351600/gtc-how-to-maintain-huge-genotype-collections-in-a-compressed-form
#18
Agnieszka Danek, Sebastian Deorowicz
Motivation: Nowadays, genome sequencing is frequently used in many research centers. In projects, such as the Haplotype Reference Consortium or the Exome Aggregation Consortium, huge databases of genotypes in large populations are determined. Together with the increasing size of these collections, the need for fast and memory frugal ways of representation and searching in them becomes crucial. Results: We present GTC, a novel compressed data structure for representation of huge collections of genetic variation data...
January 16, 2018: Bioinformatics
https://www.readbyqxmd.com/read/29351588/sorghum-root-system-classification-in-contrasting-p-environments-reveals-three-main-rooting-types-and-root-architecture-related-marker-trait-associations
#19
Sebastian Parra-Londono, Mareike Kavka, Birgit Samans, Rod Snowdon, Silke Wieckhorst, Ralf Uptmoor
Background and Aims: Roots facilitate acquisition of macro- and micronutrients, which are crucial for plant productivity and anchorage in the soil. Phosphorus (P) is rapidly immobilized in the soil and hardly available for plants. Adaptation to P scarcity relies on changes in root morphology towards rooting systems well suited for topsoil foraging. Root-system architecture (RSA) defines the spatial organization of the network comprising primary, lateral and stem-derived roots and is important for adaptation to stress conditions...
January 17, 2018: Annals of Botany
https://www.readbyqxmd.com/read/29351371/implementation-of-standardized-clinical-processes-for-tpmt-testing-in-a-diverse-multidisciplinary-population-challenges-and-lessons-learned
#20
Kristin W Weitzel, D Max Smith, Amanda R Elsey, Benjamin Q Duong, Benjamin Burkley, Michael Clare-Salzler, Yan Gong, Tara A Higgins, Benjamin Kong, Taimour Langaee, Caitrin W McDonough, Benjamin J Staley, Teresa T Vo, Dyson T Wake, Larisa H Cavallari, Julie A Johnson
Although thiopurine S-methyltransferase (TPMT) genotyping to guide thiopurine dosing is common in the pediatric cancer population, limited data exist on TPMT testing implementation in diverse, multidisciplinary settings. We established TPMT testing (genotype and enzyme) with clinical decision support, provider/patient education, and pharmacist consultations in a tertiary medical center and collected data over 3 years. During this time, 834 patients underwent 873 TPMT tests (147 (17%) genotype, 726 (83%) enzyme)...
January 19, 2018: Clinical and Translational Science
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