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Sahin Erdol, Mehmet Ture, Birol Baytan, Tahsin Yakut, Halil Saglam
There are published reports stating that some of the congenital metabolic diseases, such as lysinuric protein intolerance, multiple sulphatase deficiency, galactosemia, Gaucher disease, Pearson syndrome, and galactosialidosis, might lead to secondary hemophagocytic lymphohistiocytosis (HLH). However, to date, to our knowledge, the long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency has never been investigated among patients with HLH. Here, we report on a patient who was referred to our institution for a differential diagnosis of pancytopenia, liver failure, and rhabdomyolysis...
November 2016: Journal of Pediatric Hematology/oncology
Roberta E Rossi, Tara Whyand, Charles D Murray, Mark I Hamilton, Dario Conte, Martyn E Caplin
Inflammatory bowel diseases (IBD) are chronic immune disorders of unclear aetiology. Dietary deficiencies may be a potential pathogenic factor in their development. Patients often take food supplements without knowledge of any evidence base. We have therefore assessed the evidence for food supplementation in the management of IBD. A PubMed search was performed for the terms Inflammatory bowel disease; nutritional deficiencies; dietary supplements; curcumin; green tea; vitamin D/other vitamins; folic acid; iron; zinc; probiotics; andrographis paniculata; and boswellia serrate...
December 2016: European Journal of Gastroenterology & Hepatology
Julia M Fraile, Diana Campos-Iglesias, Francisco Rodríguez, Yaiza Español, José M P Freije
Ubiquitin-Specific Proteases (USPs) are deubiquitinating enzymes frequently deregulated in human malignancies. Here, we show that USP54 is overexpressed in intestinal stem cells and demonstrate that its downregulation in colorectal carcinoma cells impedes tumorigenesis. We have generated mutant mice deficient for this deubiquitinase, which are viable and fertile, and protected against chemically-induced colorectal carcinoma. Furthermore, we show that USP54 is upregulated in human colon cancer and associates with poor prognosis...
October 19, 2016: Oncotarget
Jing Qiu, Min Wang, Jun Zhang, Qing Cai, Dan Lu, Yansong Li, Yushu Dong, Tianzhi Zhao, Huisheng Chen
Neuroinflammation remains the primary cause of morbidity and mortality in stroke-induced secondary brain injury. The NOD-like receptor pyrin 3 (NLRP3) inflammasome is involved in diverse inflammatory diseases, including cerebral ischemia, and is thus considered an effective therapeutic target. In the present study, we investigated the neuroprotection of Sinomenine (SINO), a potent natural anti-apoptotic and anti-inflammatory molecule, against cerebral ischemia in a mouse model of middle cerebral artery occlusion (MCAO) in vivo and in an oxygen glucose deprivation (OGD)-treated astrocytes/microglia model in vitro...
October 18, 2016: International Immunopharmacology
Yu-Dong Ma, Varadharajan Thiyagarajan, May-Jywan Tsai, Sheng-I Lue, Yi-Chen Chia, Song-Kun Shyue, Ching-Feng Weng
Migration of vascular smooth muscle cells (VSMCs) contributes to intimal hyperplasia and other vascular diseases. Caveolin-1 (Cav-1) has been recognized as a proliferative inhibitor of VSMCs and is likely to be an important regulator of VSMC migration. The underlying mechanism of pyrogallol on the VSMC migration is not fully understood. This study attempted to dissect the role of Cav-1 and matrix metalloproteinase (MMP) in VSMC migration and to investigate the effect of pyrogallol on VSMC mobility during carotid artery ligation mice...
October 15, 2016: Environmental Toxicology and Pharmacology
Aindrila Chatterjee, Janine Seyfferth, Jacopo Lucci, Ralf Gilsbach, Sebastian Preissl, Lena Böttinger, Christoph U Mårtensson, Amol Panhale, Thomas Stehle, Oliver Kretz, Abdullah H Sahyoun, Sergiy Avilov, Stefan Eimer, Lutz Hein, Nikolaus Pfanner, Thomas Becker, Asifa Akhtar
A functional crosstalk between epigenetic regulators and metabolic control could provide a mechanism to adapt cellular responses to environmental cues. We report that the well-known nuclear MYST family acetyl transferase MOF and a subset of its non-specific lethal complex partners reside in mitochondria. MOF regulates oxidative phosphorylation by controlling expression of respiratory genes from both nuclear and mtDNA in aerobically respiring cells. MOF binds mtDNA, and this binding is dependent on KANSL3. The mitochondrial pool of MOF, but not a catalytically deficient mutant, rescues respiratory and mtDNA transcriptional defects triggered by the absence of MOF...
October 20, 2016: Cell
Advaitha Madireddy, Settapong T Kosiyatrakul, Rebecca A Boisvert, Emilia Herrera-Moyano, María L García-Rubio, Jeannine Gerhardt, Elizabeth A Vuono, Nichole Owen, Zi Yan, Susan Olson, Andrés Aguilera, Niall G Howlett, Carl L Schildkraut
Common fragile sites (CFSs) are genomic regions that are unstable under conditions of replicative stress. Although the characteristics of CFSs that render them vulnerable to stress are associated mainly with replication, the cellular pathways that protect CFSs during replication remain unclear. Here, we identify and describe a role for FANCD2 as a trans-acting facilitator of CFS replication, in the absence of exogenous replicative stress. In the absence of FANCD2, replication forks stall within the AT-rich fragility core of CFS, leading to dormant origin activation...
October 20, 2016: Molecular Cell
Pang Yao, Liang Sun, Ling Lu, Hong Ding, Xiafei Chen, Lixin Tang, Xinming Xu, Gang Liu, Yao Hu, Yiwei Ma, Feijie Wang, Qianlu Jin, He Zheng, Huiyong Yin, Rong Zeng, Yan Chen, Frank B Hu, Huaixing Li, Xu Lin
CONTEXT: Little is known how genetic and non-genetic factors modify responses of vitamin D supplementation in nonwhite populations. OBJECTIVE: To investigate factors modifying 25-hydroxyvitamin D (25[OH]D) and bioavailable 25(OH)D (25[OH]DBio) responses after vitamin D3 supplementation. Design, Setting, Participants, and Intervention: In this randomized, double-blinded, placebo-controlled trial, 448 Chinese with vitamin D deficiency (25[OH]D<50 nmol/L) received 2000 IU/d vitamin D3 or placebo for 20 weeks...
October 21, 2016: Journal of Clinical Endocrinology and Metabolism
Julia Elisabeth von Oettingen, Tesha Dawn Brathwaite, Christopher Carpenter, Ric Bonnell, Xuemei He, Lewis E Braverman, Elizabeth N Pearce, Philippe Larco, Nancy Charles Larco, Eddy Jean-Baptiste, Rosalind S Brown
CONTEXT: Iodine deficiency is the leading cause of preventable neurodevelopmental delay in children worldwide. It is a possible public health concern in Haiti. OBJECTIVE: To perform a population iodine survey in Haitian young children, and its influence by environmental factors. DESIGN: Cross-sectional study, March-June 2015. SETTING: Community churches in 3 geographical regions in Haiti. PARTICIPANTS: 299 healthy Haitian children aged 9 months to 6 years; 100 enrolled in coastal (C) and mountainous (M) regions, and 99 in an urban region (U)...
October 21, 2016: Journal of Clinical Endocrinology and Metabolism
Ying Wang, Shaoyan Si, Junli Liu, Zongye Wang, Haiying Jia, Kai Feng, Lili Sun, Shu Jun Song
AIMS: Vitamin D deficiency has been associated with some disorders including cardiovascular diseases. Dyslipidemia is a major risk factor for cardiovascular diseases. However, data about the relationships between vitamin D and lipids are inconsistent. The relationship of vitamin D and Atherogenic Index of Plasma (AIP), as an excellent predictor of level of small and dense LDL, has not been reported. The objective of this study was to investigate the effects of vitamin D status on serum lipids in Chinese adults...
2016: PloS One
Stephen Matthew Quinnan
Obtaining optimal results in the treatment of extraarticular distal tibia fractures can be challenging. Plate and screw and intramedullary fixation have proven to be effective treatments, but are associated with significant complication rates when used for open fractures and patient with severe medical comorbidities. External fixation is a third alternative that is less often employed, but provides a very effective means of treatment. Circular external fixation offers great flexibility in obtaining anatomic alignment and stable fixation for even the most challenging distal tibia fractures...
November 2016: Journal of Orthopaedic Trauma
Aparna Singhal, Joel K Curé
Time-of-flight magnetic resonance angiography is used for craniocervical arterial evaluation. Absent flow-related signal may be the result of slow flow, complex flow, or focal susceptibility effects. We report a case with complete absence of flow-related signal in the intracranial and cervical vessels due to ferumoxytol infusion given 5 days before magnetic resonance angiography. Ferumoxytol is a newly approved parenteral therapy for iron-deficiency anemia in patients with renal failure and awareness of this drug-magnetic resonance imaging interaction is needed...
October 20, 2016: Journal of Computer Assisted Tomography
Sachin S Kumbhar, Ryan B O'Malley, Tracy J Robinson, Suresh Maximin, Neeraj Lalwani, David R Byrd, Carolyn L Wang
Optimal treatment of thyroid cancer is highly dependent on accurate staging of the extent of disease at presentation. Preoperative ultrasonography (US) is the most sensitive method for detecting metastatic lymph nodes and is recommended as part of the standard preoperative workup. Missed findings on preoperative scans may lead to understaging and inadequate surgical management, which subsequently predispose these patients to residual disease postoperatively and a higher risk for recurrence, possibly requiring repeat surgery...
October 21, 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Tobias Dornheim, Simon Groth, Travis Sjostrom, Fionn D Malone, W M C Foulkes, Michael Bonitz
We perform ab initio quantum Monte Carlo (QMC) simulations of the warm dense uniform electron gas in the thermodynamic limit. By combining QMC data with the linear response theory, we are able to remove finite-size errors from the potential energy over the substantial parts of the warm dense regime, overcoming the deficiencies of the existing finite-size corrections by Brown et al. [Phys. Rev. Lett. 110, 146405 (2013)]. Extensive new QMC results for up to N=1000 electrons enable us to compute the potential energy V and the exchange-correlation free energy F_{xc} of the macroscopic electron gas with an unprecedented accuracy of |ΔV|/|V|,|ΔF_{xc}|/|F|_{xc}∼10^{-3}...
October 7, 2016: Physical Review Letters
Cleve Dionel Mboyi, Carine Maaliki, Amelle Mankou Makaya, Yves Canac, Carine Duhayon, Remi Chauvin
With the view to enhancing the unique coordinating ability of the known phenyl-tetrakis(diisopropylamino)dicyclopropeniophosphine (Ph-DCP), replacement of the phenyl substituent by a tert-butyl substituent was envisaged. Both α-dicationic R-DCP phosphines, with R = Ph and (t)Bu, were prepared in 54%-55% yield by substitution of RPCl2 with two equivalents of bis(diisopropylamino)-dicyclopropenylidene (BAC) and metathesis with NaBF4. This method is implicitly consistent with the representation of R-DCPs as BAC-phosphenium adducts...
October 21, 2016: Inorganic Chemistry
Breanna L Alman, Evan Coffman, Anna Maria Siega-Riz, Thomas J Luben
BACKGROUND: Water and water-based beverages constitute a major part of daily fluid intake for pregnant women, yet few epidemiologic studies have investigated the role of water consumption on birth outcomes. METHODS: We used data from the National Birth Defects Prevention Study to conduct a case-control study investigating associations between maternal water consumption during pregnancy and birth defects (BD). We used interview data on water consumption during the first trimester of pregnancy in 14,454 cases (major BDs n ≥ 50) and 5,063 controls...
October 21, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
Peter G Alexander, Karen L Clark, Rocky S Tuan
Limb congenital defects afflict approximately 0.6:1000 live births. In addition to genetic factors, prenatal exposure to drugs and environmental toxicants, represents a major contributing factor to limb defects. Examples of well-recognized limb teratogenic agents include thalidomide, warfarin, valproic acid, misoprostol, and phenytoin. While the mechanism by which these agents cause dymorphogenesis is increasingly clear, prediction of the limb teratogenicity of many thousands of as yet uncharacterized environmental factors (pollutants) remains inexact...
October 21, 2016: Birth Defects Research. Part C, Embryo Today: Reviews
Oriana Brea, Ines Corral Perez, Otilia Mo, Manuel Yañez, Ibon Alkorta, Jose Elguero
Through the use of high-level ab initio and density functional calculations we have shown that 1,8-diBeX-naphthalene (X = H, F, Cl, CN, CF₃, C(CF₃)₃) derivatives behave as anion sponges, very much as 1,8-bis(dimethylamino)naphthalene derivatives behave as proton sponges. The electron deficient nature of the BeX substituents, which favors strong charge transfer from the anion towards the former, results into anion affinities which are among the largest ones reported in the literature for single neutral molecules...
October 21, 2016: Chemistry: a European Journal
Wei Huang, Jiyuan Wu, Huiqin Yang, Yin Xiong, Rui Jiang, Tianpen Cui, Duyun Ye
Abnormal features of the systemic lupus erythematosus (SLE)-derived neutrophils, promoted aberrant immune response, have inspired new studies of the induction of autoimmunity and the development of organ damage in SLE. In this study, we explore the effect of milk fat globule-EGF factor 8 (MFG-E8) on the aberrant nitrification features in pristane-induced lupus. SLE patients and mice with pristane-induced lupus develop autoantibodies associated with MFG-E8 overproduction. However, the deletion of MFG-E8 leads to uncontrolled early pulmonary and peritoneal inflammation and tissue damage in mice with pristane-induced lupus...
October 21, 2016: Cell Death and Differentiation
Stacey Bagby, Wells A Messersmith, Todd M Pitts, Anna Capasso, Marileila Varella-Garcia, Peter J Klauck, Jihye Kim, Aik-Choon Tan, S Gail Eckhardt, John J Tentler, John Arcaroli
Patient derived tumor xenograft (PDTX) models provide a necessary platform in facilitating anti-cancer drug development prior to human trials. Human tumor pieces are injected subcutaneously into athymic nude mice (immunocompromised, T cell deficient) to create a bank of tumors and subsequently are passaged into different generations of mice in order to maintain these tumors from patients. Importantly, cellular heterogeneity of the original tumor is closely emulated in this model, which provides a more clinically relevant model for evaluation of drug efficacy studies (single agent and combination), biomarker analysis, resistant pathways and cancer stem cell biology...
September 30, 2016: Journal of Visualized Experiments: JoVE
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