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https://www.readbyqxmd.com/read/29452367/variant-in-human-pofut1-reduces-enzymatic-activity-and-likely-causes-a-recessive-microcephaly-global-developmental-delay-with-cardiac-and-vascular-features
#1
Hideyuki Takeuchi, Derek Wong, Michael Schneider, Hudson H Freeze, Megumi Takeuchi, Steven J Berardinelli, Atsuko Ito, Hane Lee, Stanley F Nelson, Robert S Haltiwanger
Protein O-fucosyltransferase-1 (POFUT1) adds O-fucose monosaccharides to epidermal growth factor-like (EGF) repeats found on approximately 100 mammalian proteins, including Notch receptors. Haploinsufficiency of POFUT1 has been linked to adult-onset Dowling Degos Disease (DDD) with hyperpigmentation defects. Homozygous deletion of mouse Pofut1 results in embryonic lethality with severe Notch-like phenotypes including defects in somitogenesis, cardiogenesis, vasculogenesis, and neurogenesis, but the extent to which POFUT1 is required for normal human development is not yet understood...
February 14, 2018: Glycobiology
https://www.readbyqxmd.com/read/29452366/prevalence-and-incidence-of-anal-and-cervical-high-risk-human-papillomavirus-hpv-types-covered-by-current-hpv-vaccines-among-hiv-infected-women-in-the-study-to-understand-the-natural-history-of-hiv-aids-in-the-era-of-effective-therapy-the-sun-study
#2
Erna Milunka Kojic, Lois Conley, Tim Bush, Susan Cu-Uvin, Elizabeth R Unger, Keith Henry, John Hammer, Gerome Escota, Teresa M Darragh, Joel M Palefsky, John T Brooks, Pragna Patel
Background: Nonavalent (9v) human papilloma virus vaccine targets high-risk (HR)-HPV types 16, 18, 31, 33, 45, 52, 58, and low-risk 6, 11. We examined prevalence, incidence, and clearance of anal and cervical HR-HPV in HIV-infected women. Methods: From 2004-2006, the SUN Study enrolled 167 women from four US cities. Anal and cervical specimens were collected annually for cytology and identification of 37 HPV types; 14 HR include: 9v 16, 18, 31, 33, 45, 52, 58; non-9v 35, 39, 51, 56, 59, 66, 68...
February 14, 2018: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29452353/a-diagnostic-germ-cell-score-for-immature-testicular-tissue-at-risk-of-germ-cell-loss
#3
L Heckmann, D Langenstroth-Röwer, T Pock, J Wistuba, J-B Stukenborg, M Zitzmann, S Kliesch, S Schlatt, N Neuhaus
STUDY QUESTION: Can a systematic scoring procedure provide crucial information on the status of highly heterogeneous immature human testicular tissues in the context of cryopreservation for fertility preservation? SUMMARY ANSWER: We developed a systematic histological score as a novel diagnostic tool which differentiates the patient cohort according to the status of germ cell differentiation and number of spermatogonia (normal, diminished and absent), and which could be relevant in the fertility clinic...
February 14, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29452245/haploidentical-bone-marrow-transplantation-with-post-transplant-cyclophosphamide-using-non-first-degree-related-donors
#4
Hany Elmariah, Yvette L Kasamon, Marianna Zahurak, Karen W Macfarlane, Noah Tucker, Gary L Rosner, Javier Bolaños-Meade, Ephraim J Fuchs, Nina Wagner-Johnston, Lode J Swinnen, Carol Ann Huff, William H Matsui, Douglas E Gladstone, Shannon R McCurdy, Ivan Borrello, Christian B Gocke, Satish Shanbhag, Kenneth R Cooke, Syed Abbas Ali, Robert A Brodsky, Amy E DeZern, Leo Luznik, Richard J Jones, Richard F Ambinder
Outcomes of nonmyeloablative (NMA) haploidentical (haplo) blood or marrow transplant (BMT) with post-transplantation cyclophosphamide (PTCy) using non-first-degree relatives are unknown. We evaluated 33 consecutive adult patients (median age 56 years) with hematologic malignancies who underwent NMA haplo T-cell replete BMT with PTCy at Johns Hopkins using second- or third-degree related donors. Donors consisted of 10 nieces (30%), 9 nephews (27%), 7 first cousins (21%), 5 grandchildren (15%), and 2 uncles (6%)...
February 13, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29452228/a-bach2-gene-variant-is-associated-with-postoperative-recurrence-of-crohn-s-disease
#5
Michael R Laffin, Richard N Fedorak, Eytan Wine, Bryan Dicken, Karen L Madsen
BACKGROUND: Crohn's disease often requires intestinal resection, which is not considered curative. Repeat surgical intervention is necessary in over half of the patients following their initial operation. Although many genetic loci are implicated in Crohn's disease, few have been associated with post-resection recurrence. STUDY DESIGN: A cohort of Crohn's disease subjects who underwent intestinal resection was analyzed to determine genetic and clinical factors associated with post-resection recurrence...
February 13, 2018: Journal of the American College of Surgeons
https://www.readbyqxmd.com/read/29452219/increased-cd4-counts-pain-and-depression-are-correlates-of-lower-sleep-quality-in-treated-hiv-positive-patients-with-low-baseline-cd4-counts
#6
K N Redman, A S Karstaedt, K Scheuermaier
Poor sleep quality leads to increased immune activation and immune activation leads to worse sleep quality. South African HIV positive patients typically have delayed start of treatment, which has been associated with CD4+ effector T cells being more spontaneously activated in chronically treated patients. This cross-sectional study investigated whether subjective sleep quality was associated with CD4+ T lymphocyte reconstitution in treated South African HIV+ patients. One hundred and thirty-nine treated HIV+ patients (109 F, age average (SD)= 43 (9)) were recruited from Chris Hani Baragwanath Academic Hospital in Soweto, Johannesburg, South Africa...
February 13, 2018: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/29452216/upregulation-of-tiam1-contributes-to-cervical-cancer-disease-progression-and-indicates-poor-survival-outcome
#7
Yang Yang, Qunying Wu, Nan Li, Shuanlong Che, Tiefeng Jin, Yunze Nan, Zhenhua Lin, Liyan Chen
T lymphoma invasion and metastasis 1 (Tiam1), a guanine nucleotide exchange factor, is involved in the tumorigenesis of a number of malignancies. This study was aimed to explore the role of Tiam1 in cervical cancer progression, and evaluate the prognostic values. Tiam1 protein expression levels were detected by immunohistochemical (IHC) staining in 174 cervical cancer tissues, 92 of CINs (Cervical intraepithelial neoplasia) and 32 of normal cervical epithelia tissues. Clinicopathological parameters and overall survival data were collected and compared between different Tiam1 statuses...
February 13, 2018: Human Pathology
https://www.readbyqxmd.com/read/29452213/nanoemulsion-of-atovaquone-as-a-promising-approach-for-treatment-of-acute-and-chronic-toxoplasmosis
#8
Sanaz Jafarpour Azami, Amir Amani, Hossein Keshavarz, Roqya Najafi-Taher, Mehdi Mohebali, Mohammad Ali Faramarzi, Mahmood Mahmoudi, Saeedeh Shojaee
Treatment of toxoplasmosis is necessary in congenital form and immunocompromised patients. Atovaquone is a powerful suppressor of protozoan parasites with a broad-spectrum activity, but an extremely low water solubility and bioavailability. In this study, nanoemulsion of this drug was prepared with grape seed oil using spontaneous emulsification method to increase bioavailability and efficacy of atovaquone for treatment of toxoplasmosis. In vitro activity of atovaquone nanoemulsion against T. gondii, RH and Tehran strains, was assessed in HeLa cell culture...
February 13, 2018: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/29452159/cyp27a1-acts-on-the-pre-vitamin-d3-photoproduct-lumisterol-producing-biologically-active-hydroxy-metabolites
#9
Robert C Tuckey, Wei Li, Dejian Ma, Chloe Y S Cheng, Katie M Wang, Tae-Kang Kim, Saowanee Jeayeng, Andrzej T Slominski
Prolonged exposure of the skin to UV radiation causes previtamin D3, the initial photoproduct formed by opening of the B ring of 7-dehydrocholesterol, to undergo a second photochemical reaction where the B-ring is reformed giving lumisterol3 (L3), a stereoisomer of 7-dehydrocholesterol. L3 was believed to be an inactive photoproduct of excessive UV radiation whose formation prevents excessive vitamin D production. Recently, we reported that L3 is present in serum and that CYP11A1 can act on L3 producing monohydroxy- and dihydroxy-metabolites which inhibit skin cell proliferation similarly to 1α,25-dihydroxyvitamin D3...
February 13, 2018: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29452148/complete-inhibition-of-fetal-movement-in-the-day-40-pregnant-goat-model-by-the-piperidine-alkaloid-anabasine-but-not-related-alkaloids
#10
B T Green, S T Lee, J W Keele, K D Welch, D Cook, J A Pfister, W R Kem
Four chemically similar alkaloids, anabasine, anabaseine, epibatidine and dimethylphenylpiperazinium (DMPP), are potent nicotinic acetylcholine receptor agonists of fetal muscle nicotinic acetylcholine receptors in human TE-671 cells. Based on results with these cells, we hypothesized that the alkaloids would completely inhibit ultrasound-monitored fetal movement in a goat model. Different, single doses of anabasine, anabaseine, epibatidine, DMPP, or saline control were administered I.V. to pregnant goats on day 40 of gestation and the number of fetal movements per 5 min sample was measured by ultrasound at times 0, 0...
February 13, 2018: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/29452107/trabecular-meshwork-morphogenesis-a-comparative-analysis-of-wildtype-and-anterior-segment-dysgenesis-mouse-models
#11
Rebecca L Rausch, Richard T Libby, Amy E Kiernan
The trabecular meshwork (TM), a tissue residing in the iridocorneal angle of the eye, is the primary site of aqueous humor outflow and often develops abnormally in children with anterior segment dysgenesis (ASD). However, the cellular mechanisms underlying both normal and pathophysiological TM formation are poorly understood. Here, we improve the characterization of TM development via morphological and molecular analyses. We first assessed the TM of wild-type C57BL/6J mice at multiple time points throughout development (E15...
February 13, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29452096/the-macrophage-heme-heme-oxygenase-1-system-and-its-role-in-inflammation
#12
REVIEW
Vijith Vijayan, Frank A D T G Wagener, Stephan Immenschuh
Heme oxygenase (HO)-1, the inducible isoform of the heme-degrading enzyme HO, plays a critical role in inflammation and iron homeostasis. Regulatory functions of HO-1 are mediated via the catalytic breakdown of heme, which is an iron-containing tetrapyrrole complex with potential pro-oxidant and pro-inflammatory effects. The HO reaction produces the antioxidant and anti-inflammatory compounds carbon monoxide (CO) and biliverdin, subsequently converted into bilirubin, along with iron, which is reutilized for erythropoiesis...
February 13, 2018: Biochemical Pharmacology
https://www.readbyqxmd.com/read/29452091/expression-profiles-and-clinical-value-of-plasma-exosomal-tim-3-and-galectin-9-in-non-small-cell-lung-cancer
#13
Jianwei Gao, Xiangyu Qiu, Xinying Li, Hang Fan, Fang Zhang, Tangfeng Lv, Yong Song
Exosomes are membrane-bound, virus-size vesicles present in circulating blood. Tumor cells are avid producers of exosomes, which are thought to mimic molecular features of parent tumor cells. T-cell Immunoglobulin- and Mucin-domain-containing molecule 3 (Tim-3) is one of the next generation immune checkpoints and can be activated by its ligand Galectin-9, negatively regulating anti-tumor immune response. However, the characteristics of plasma exosomal Tim-3/Galectin-9 (Exo-T/G) in cancer remained unknown. Our study aimed to investigate the expression patterns and clinical value of plasma exosomal total protein (Exo-pro) and Exo-T/G in non-small cell lung caner (NSCLC)...
February 13, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29451940/patient-factors-associated-with-methicillin-resistant-staphylococcus-aureus-septic-arthritis-in-children
#14
Derek T Bernstein, Lee S Haruno, Shiva Daram, John R Dawson, Wei Zhang, Scott B Rosenfeld
Staphylococcus aureus is the most common causative organism in pediatric septic arthritis, with methicillin-resistant Staphylococcus aureus (MRSA) being responsible for a significant portion of these infections. Early identification and initiation of proper treatment may improve outcomes by minimizing potential morbidity. The purpose of this study was to identify variables obtained on initial patient presentation associated with MRSA septic arthritis. Sixteen factors were retrospectively evaluated in 109 consecutive pediatric patients diagnosed with culture-confirmed septic arthritis...
February 16, 2018: Orthopedics
https://www.readbyqxmd.com/read/29451895/metabolic-enzyme-cost-explains-variable-trade-offs-between-microbial-growth-rate-and-yield
#15
Meike T Wortel, Elad Noor, Michael Ferris, Frank J Bruggeman, Wolfram Liebermeister
Microbes may maximize the number of daughter cells per time or per amount of nutrients consumed. These two strategies correspond, respectively, to the use of enzyme-efficient or substrate-efficient metabolic pathways. In reality, fast growth is often associated with wasteful, yield-inefficient metabolism, and a general thermodynamic trade-off between growth rate and biomass yield has been proposed to explain this. We studied growth rate/yield trade-offs by using a novel modeling framework, Enzyme-Flux Cost Minimization (EFCM) and by assuming that the growth rate depends directly on the enzyme investment per rate of biomass production...
February 16, 2018: PLoS Computational Biology
https://www.readbyqxmd.com/read/29451876/comparative-genomic-analysis-of-the-multispecies-probiotic-marketed-product-vsl-3
#16
François P Douillard, Diego Mora, Robyn T Eijlander, Michiel Wels, Willem M de Vos
Several probiotic-marketed formulations available for the consumers contain live lactic acid bacteria and/or bifidobacteria. The multispecies product commercialized as VSL#3 has been used for treating various gastro-intestinal disorders. However, like many other products, the bacterial strains present in VSL#3 have only been characterized to a limited extent and their efficacy as well as their predicted mode of action remain unclear, preventing further applications or comparative studies. In this work, the genomes of all eight bacterial strains present in VSL#3 were sequenced and characterized, to advance insights into the possible mode of action of this product and also to serve as a basis for future work and trials...
2018: PloS One
https://www.readbyqxmd.com/read/29451832/circulating-progenitor-cells-and-their-interaction-with-platelets-in-patients-with-an-acute-coronary-syndrome
#17
Prokopia T Tatsidou, Vasileios G Chantzichristos, Maria E Tsoumani, Sofia Sidiropoulou, Ioannis V Ntalas, John A Goudevenos, Konstantinos Stellos, Alexandros D Tselepis
CD34 + cells expressing KDR (CD34 + /KDR + ) represent a small proportion of circulating progenitor cells that have the capacity to interact with platelets and to differentiate into mature endothelial cells, thus contributing to vascular homeostasis and regeneration as well as to re-endothelialization. We investigated the levels of CD34 + and CD34 + /KDR + progenitor cells as well as their interaction with platelets in acute coronary syndrome (ACS) patients before the initiation (baseline) of their treatment with a P2Y 12 receptor antagonist, and at 5-days post-treatment (follow-up)...
February 16, 2018: Platelets
https://www.readbyqxmd.com/read/29451786/the-catalytic-reaction-of-nitroxides-with-peroxyl-radicals-and-its-relevance-to-their-cytoprotective-properties
#18
Markus Griesser, Ron Shah, Antonius T Van Kessel, Omkar Zilka, Evan A Haidasz, Derek A Pratt
Sterically-hindered nitroxides such as 2,2,6,6-tetramethylpiperidin-N-oxyl (TEMPO) have long been ascribed antioxidant activity that is thought to underlie their chemopreventive and anti-aging properties. However, the most commonly invoked reactions in this context - combination with an alkyl radical to give a redox inactive alkoxyamine or the catalysis of superoxide dismutation - are unlikely to be relevant under (most) physiological conditions. Herein we characterize the kinetics and mechanisms of the reactions of TEMPO, as well as an N-arylnitroxide and a N,N-diarylnitroxide, with alkylperoxyl radicals, the propagating species in lipid peroxidation...
February 16, 2018: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/29451705/modeling-asthma-pitfalls-promises-and-the-road-ahead
#19
REVIEW
Helene F Rosenberg, Kirk M Druey
Asthma is a chronic, heterogeneous, and recurring inflammatory disease of the lower airways, with exacerbations that feature airway inflammation and bronchial hyperresponsiveness. Asthma has been modeled extensively via disease induction in both wild-type and genetically manipulated laboratory mice (Mus musculus). Antigen sensitization and challenge strategies have reproduced numerous important features of airway inflammation characteristic of human asthma, notably the critical roles of type 2 T helper cell cytokines...
February 16, 2018: Journal of Leukocyte Biology
https://www.readbyqxmd.com/read/29451704/mait-cells-and-microbial-immunity
#20
Erin W Meermeier, Melanie J Harriff, Elham Karamooz, David M Lewinsohn
Mucosal-associated invariant T (MAIT) cells, the most abundant T cell subset in humans, are increasingly being recognized for their importance in microbial immunity. MAIT cells accumulate in almost every mucosal tissue examined, including the lung, liver, and intestinal tract, where they can be activated through T cell receptor (TCR) triggering as well as cytokine stimulation in response to a host of microbial products. In this review, we specifically discuss MAIT cell responses to bacterial and fungal infections, with a focus on responses that are both MR1-dependent and -independent, the evidence for diversity in MAIT TCR usage in response to discrete microbial products, protective immunity induced by MAIT cells, and MAIT cell antimicrobial functions in the context of these infections...
February 16, 2018: Immunology and Cell Biology
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