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Franziska Hanisch, Linda Toresson, Thomas Spillmann
Cobalamin is a member of the B-group of vitamins and a cofactor for metabolic processes like nucleic acid synthesis, amino acid synthesis, and the citric acid cycle. Mammals are unable to synthesize cobalamin and therefore rely on adequate food intake. Cobalamin absorption is a complex process in the stomach, duodenum, and ileum, requiring a functional exocrine pancreas. Thus, a great number of gastrointestinal diseases like chronic enteropathies, intestinal lymphoma, or exocrine pancreatic insufficiency can lead to hypocobalaminemia...
October 2018: Tierärztliche Praxis. Ausgabe K, Kleintiere/Heimtiere
Christian Albig, Evgeniya Tikhonova, Silke Krause, Oksana Maksimenko, Catherine Regnard, Peter B Becker
Transcription regulators select their genomic binding sites from a large pool of similar, non-functional sequences. Although general principles that allow such discrimination are known, the complexity of DNA elements often precludes a prediction of functional sites. The process of dosage compensation in Drosophila allows exploring the rules underlying binding site selectivity. The male-specific-lethal (MSL) Dosage Compensation Complex (DCC) selectively binds to some 300 X chromosomal 'High Affinity Sites' (HAS) containing GA-rich 'MSL recognition elements' (MREs), but disregards thousands of other MRE sequences in the genome...
December 12, 2018: Nucleic Acids Research
Aida Kapic Lunder, Linda Tøften Bakstad, Jørgen Jahnsen, Arne Borthne, Johannes Roksund Hov, Morten Vatn, Anne Negård
Background: Crohns disease (CD) is a chronic inflammation in the gut that often progresses to fibrosis. Magnetic Resonance Enterography (MRE) is an important diagnostic tool in evaluating CD. We aimed to assess the prevalence of inflammation and stricturing disease in patients with long-term CD and investigate associations with clinical factors. Methods: We performed a follow-up analysis of a population-based cohort of 237 CD patients in southeastern Norway 20 years after diagnosis...
December 12, 2018: Journal of Crohn's & Colitis
Malik Kahli, Joseph S Osmundson, Rani Yeung, Duncan J Smith
Prior to ligation, each Okazaki fragment synthesized on the lagging strand in eukaryotes must be nucleolytically processed. Nuclease cleavage takes place in the context of 5' flap structures generated via strand-displacement synthesis by DNA polymerase delta. At least three DNA nucleases: Rad27 (Fen1), Dna2 and Exo1, have been implicated in processing Okazaki fragment flaps. However, neither the contributions of individual nucleases to lagging-strand synthesis nor the structure of the DNA intermediates formed in their absence have been fully defined in vivo...
December 12, 2018: Nucleic Acids Research
Yvonne Lamers, Amanda J MacFarlane, Deborah L O'Connor, Bénédicte Fontaine-Bisson
The Government of Canada and the Society of Obstetricians and Gynaecologists of Canada both recommend a daily multivitamin supplement containing 400 µg folic acid (FA) for the primary prevention of neural tube defects among low-risk women from before conception and throughout lactation. Prenatal supplements marketed and prescribed in Canada typically exceed the recommended dose, usually providing ≥1000 µg FA/d. This high daily dose, coupled with staple-food FA fortification, has resulted in the observation of very high blood folate concentrations among reproductive-aged women consuming FA-containing supplements...
December 1, 2018: American Journal of Clinical Nutrition
Kiya L Hurley, Miranda J Pallan, Emma R Lancashire, Peymane Adab
Background: Some research suggests that parent or carer feeding practices may influence children's weight patterns, but longitudinal evidence is limited and inconsistent. Objective: The aim of this study was to investigate the relation between various parent or carer feeding practices when a child is aged 7-8 y and proxy measurements of child adiposity at age 8-9 y (weight status, waist-to-height ratio, and body fat percentage). Design: The study was a secondary analysis of data from the West Midlands Active Lifestyle and Healthy Eating in Schoolchildren (WAVES) Study comprising a diverse sample of parents and carers and their children from 54 primary schools in the West Midlands, England [n = 774 parent-child dyads (53% of the WAVES study sample)]...
December 1, 2018: American Journal of Clinical Nutrition
Jing Li, Hao Li, Tao Long, Han Dong, En-Duo Wang, Ru-Juan Liu
Human NOL1/NOP2/Sun RNA methyltransferase family member 6 (hNSun6) generates 5-methylcytosine (m5C) at C72 of four specific tRNAs, and its homologs are present only in higher eukaryotes and hyperthermophilic archaea. Archaeal NSun6 homologs possess conserved catalytic residues, but have distinct differences in their RNA recognition motifs from eukaryotic NSun6s. Until now, the biochemical properties and functions of archaeal NSun6 homologs were unknown. In archaeon Pyrococcus horikoshii OT3, the gene encoding the NSun6 homolog is PH1991...
December 12, 2018: Nucleic Acids Research
Philip W Hedrick
The organisms of the Galapagos Islands played a central role in the development of the theory of evolution by Charles Darwin. Examination of the population genetics factors of many of these organisms with modern molecular methods have expanded our understanding of their evolution. Here I provide a perspective on how selection, gene flow, genetic drift, mutation, and inbreeding have contributed to the evolution of six of the iconic Galapagos species; flightless cormorant, pink iguana, marine iguana, Galapagos hawk, giant tortoises, and Darwin's finches...
December 12, 2018: Journal of Heredity
Guilherme F Mendes, Daniel R Stuginski, Selene M C Loibel, Karen de Morais-Zani, Marisa Maria T da Rocha, Wilson Fernandes, Sávio S Sant'Anna, Kathleen F Grego
Envenoming and deaths resulting from snakebites are a particularly important public health problem in rural tropical areas of Africa, Asia, Latin America and New Guinea. In 2015 The Lancet highlighted snake-bite envenoming as a neglected tropical disease and urged the world to increase antivenom production. In Brazil around 20,000 snakebites occur per year affecting mostly agricultural workers and children, of which 1% are caused by coral snakes (Micrurus sp). Although human envenoming by coral snakes are relatively rare due to their semifossorial habits and non-aggressive behavior, they are always considered severe due to the neurotoxic, myotoxic, hemorrhagic and cardiovascular actions of their venom, which is highly toxic when compared to the venom of other Brazilian venomous snakes as Bothrops sp (pit vipers), Crotalus sp (rattlesnakes) and Lachesis sp (bushmasters)...
December 12, 2018: Journal of Animal Science
Silvia C Mendonca, Gary A Abel, Carolynn Gildea, Sean McPhail, Michael D Peake, Greg Rubin, Hardeep Singh, Willie Hamilton, Fiona M Walter, Martin O Roland, Georgios Lyratzopoulos
Background: Large variation in measures of diagnostic activity has been described previously between English general practices, but related predictors remain understudied. Objective: To examine associations between general practice population and characteristics, with the use of urgent referrals for suspected cancer, and use of endoscopy. Methods: Cross-sectional observational study of English general practices. We examined practice-level use (/1000 patients/year) of urgent referrals for suspected cancer, gastroscopy, flexible sigmoidoscopy and colonoscopy...
December 12, 2018: Family Practice
Yongjie Lu, Shunyao Liao, Wenling Tu, Bo Yang, Shasha Liu, Xue Pei, Dachang Tao, Yilu Lu, Yongxin Ma, Yuan Yang, Yunqiang Liu
Some X-linked genes necessary for spermiogenesis are specifically activated in the post-meiotic germ cells. However, the regulatory mechanism about this activation is not clearly understood. Here, we examined the potential mechanism controlling the transcriptional activation of the mouse testis specific gene A8 (Tsga8) gene in round spermatids. We observed that the Tsga8 expression was negatively correlated with the methylation level of the CpG sites in its core promoter. During spermatogenesis, the Tsga8 promoter was methylated in spermatogonia, and then demethylated in spermatocytes...
December 12, 2018: Biology of Reproduction
Kristýna Hanušová, Martin Certner, Tomáš Urfus, Petr Koutecký, Jirí Košnar, Carl J Rothfels, Vlasta Jarolímová, Jan Ptácek, Libor Ekrt
Background and Aims: Polyploidy has played an important role in the evolution of ferns. However, the dearth of data on cytotype diversity, cytotype distribution patterns and ecology in ferns is striking in comparison with angiosperms and prevents an assessment of whether cytotype coexistence and its mechanisms show similar patterns in both plant groups. Here, an attempt to fill this gap was made using the ploidy-variable and widely distributed Cystopteris fragilis complex. Methods: Flow cytometry was used to assess DNA ploidy level and monoploid genome size (Cx value) of 5518 C...
December 12, 2018: Annals of Botany
Jacqueline Heckenhauer, Ovidiu Paun, Mark W Chase, Peter S Ashton, A S Kamariah, Rosabelle Samuel
Background and Aims: Phylogenetic relationships within tribe Shoreeae, containing the main elements of tropical forests in Southeast Asia, present a long-standing problem in the systematics of Dipterocarpaceae. Sequencing whole plastomes using next-generation sequencing- (NGS) based genome skimming is increasingly employed for investigating phylogenetic relationships of plants. Here, the usefulness of complete plastid genome sequences in resolving phylogenetic relationships within Shoreeae is evaluated...
December 12, 2018: Annals of Botany
Mark Hamer, Adrian Bauman, Joshua A Bell, Emmanuel Stamatakis
Background: The purpose of a negative control is to reproduce a condition that cannot involve the hypothesized causal mechanism, but does involve the same sources of bias and confounding that may distort the primary association of interest. Observational studies suggest physical inactivity is a major risk factor for cardiovascular disease (CVD), although potential sources of bias, including reverse causation and residual confounding, make it difficult to infer causality. The aim was to employ a negative control outcome to explore the extent to which the association between physical activity and CVD mortality is explained by confounding...
December 11, 2018: International Journal of Epidemiology
Jacinta H Martin, R John Aitken, Elizabeth G Bromfield, Brett Nixon
BACKGROUND: DNA integrity and stability are critical determinants of cell viability. This is especially true in the female germline, wherein DNA integrity underpins successful conception, embryonic development, pregnancy and the production of healthy offspring. However, DNA is not inert; rather, it is subject to assault from various environment factors resulting in chemical modification and/or strand breakage. If structural alterations result and are left unrepaired, they have the potential to cause mutations and propagate disease...
December 12, 2018: Human Reproduction Update
Fernando Pires Hartwig, Neil Martin Davies, Bernardo Lessa Horta, Tarunveer S Ahluwalia, Hans Bisgaard, Klaus Bønnelykke, Avshalom Caspi, Terrie E Moffitt, Richie Poulton, Ayesha Sajjad, Henning W Tiemeier, Albert Dalmau-Bueno, Mònica Guxens, Mariona Bustamante, Loreto Santa-Marina, Nadine Parker, Tomáš Paus, Zdenka Pausova, Lotte Lauritzen, Theresia M Schnurr, Kim F Michaelsen, Torben Hansen, Wendy Oddy, Craig E Pennell, Nicole M Warrington, George Davey Smith, Cesar Gomes Victora
Background: Accumulating evidence suggests that breastfeeding benefits children's intelligence, possibly due to long-chain polyunsaturated fatty acids (LC-PUFAs) present in breast milk. Under a nutritional adequacy hypothesis, an interaction between breastfeeding and genetic variants associated with endogenous LC-PUFAs synthesis might be expected. However, the literature on this topic is controversial. Methods: We investigated this gene × environment interaction through a collaborative effort...
December 11, 2018: International Journal of Epidemiology
Yun Qiu, Su-Fan Wang, Chao Yu, Qian Chen, Rui Jiang, Lei Pei, Yuan-Ling Huang, Neng-Zhi Pang, Zhenfeng Zhang, Wenhua Ling, Lili Yang
BACKGROUND/AIMS: Some adipokines, such as adiponectin and leptin, have been reported to be involved in the pathogenesis of nonalcoholic fatty liver disease (NAFLD), while the association of adipsin and visfatin with NAFLD still remains unclear. This study aimed to examine the association of circulating adipsin, visfatin, and adiponectin with NAFLD in Chinese adults. METHODS: We recruited a total of 211 eligible subjects, including 100 NAFLD cases and 111 age and sex frequency-matched controls...
December 12, 2018: Annals of Nutrition & Metabolism
Sarah N Thomas, Shelly R Hovick, Naomi Tan, Amy C Sturm, Kevin Sweet
BACKGROUND: Family health history tools have the ability to improve health outcomes and promote patient-provider communication, but some research suggests their effectiveness is limited. Tool design features may heavily influence users' perceptions of the tools. AIMS: This study provides a summative evaluation of the Family HealthLink tool, which assesses cancer and coronary heart disease risk based on personal and family health history, to better understand how tool design and message content impact user perceptions...
December 12, 2018: Public Health Genomics
Christine L Mummery
Cardiovascular disease is still a major cause of ill-health and mortality, heart failure and arrhythmia being among the causes of sudden cardiac death. There are few drugs available for treatment or prevention and it remains difficult to predict who will develop these conditions, even when disease-causing mutations or associated gene variants are identified in individuals or families. This is in part because widely used rodent models may not fully capture the physiology of the human heart. The advent of pluripotent stem cell technology that allows cardiovascular cells to be derived from patients and healthy individuals, in some cases genetically matched through mutation repair, is leading to paradigm shifts in how cardiovascular diseases are studied in humans...
December 11, 2018: Stem Cell Reports
Alexander Weigert, Christina Martin-Higueras, Bernd Hoppe
Currently, three types of primary hyperoxaluria (PH I-III) are known, all based on different gene-mutations affecting the glyoxylate metabolism in the liver. Disease hallmark is an increased endogenous oxalate production and thus massively elevated urinary excretion of oxalate and other type-specific metabolites. Hyperoxaluria induces the formation of calcium-oxalate kidney stones and/or nephrocalcinosis. In addition to that, a chronic inflammasome activation by hyperoxaluria per se, often leads to an early deterioration of kidney function, regularly resulting in end-stage renal disease (ESRD) at least in patients with type I PH...
December 12, 2018: Expert Opinion on Emerging Drugs
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