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https://www.readbyqxmd.com/read/28445721/nacho-mediates-nicotinic-acetylcholine-receptor-function-throughout-the-brain
#1
Jose A Matta, Shenyan Gu, Weston B Davini, Brian Lord, Edward R Siuda, Anthony W Harrington, David S Bredt
Neuronal nicotinic acetylcholine receptors (nAChRs) participate in diverse aspects of brain function and mediate behavioral and addictive properties of nicotine. Neuronal nAChRs derive from combinations of α and β subunits, whose assembly is tightly regulated. NACHO was recently identified as a chaperone for α7-type nAChRs. Here, we find NACHO mediates assembly of all major classes of presynaptic and postsynaptic nAChR tested. NACHO acts at early intracellular stages of nAChR subunit assembly and then synergizes with RIC-3 for receptor surface expression...
April 25, 2017: Cell Reports
https://www.readbyqxmd.com/read/28445046/lead-discovery-of-dual-g-quadruplex-stabilizers-and-poly-adp-ribose-polymerases-parps-inhibitors-a-new-avenue-in-anticancer-treatment
#2
Erica Salvati, Lorenzo Botta, Jussara Amato, Francesco Saverio Di Leva, Pasquale Zizza, Antimo Gioiello, Bruno Pagano, Grazia Graziani, Madalena Tarsounas, Antonio Randazzo, Ettore Novellino, Annamaria Biroccio, Sandro Cosconati
G-quadruplex stabilizers are an established opportunity in anticancer chemotherapy. To circumvent the antiproliferative effects of G4 ligands, cancer cells recruit PARP enzymes at telomeres. Herein, starting from the structural similarity of a potent G4 ligand previously discovered by our group and a congeneric PARP inhibitor, a library of derivatives was synthesized to discover the first dual G4/PARP ligand. We demonstrate that a properly decorated thieno[3,2-c]quinolin-4(5H)-one stabilizes the G4 fold in vitro and in cells, induces a DNA damage response localized to telomeres, inhibits PARylation in cells and has an antiproliferative effect in BRCA2 deficient tumor cells...
April 26, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28444994/induction-of-micronuclei-and-cell-cycle-arrest-by-some-tri-and-tetrachlorobiphenyls-in-mammalian-cells-deficient-in-xenobiotic-metabolizing-enzymes
#3
Haiyan Wang, Liwen Wei, Yifan Wu, Hansi Jia, Hao Jiang, Yungang Liu
Polychlorinated biphenyls (PCBs) are persistent organic pollutants with continued public health concerns. The lower chlorinated biphenyls are supposed to be mutagenic following metabolic activation. However, in a preliminary study, we recently observed induction of micronuclei by several PCBs in a subclone of Chinese hamster V79 cell line, V79-Mz, which is deficient in xenobiotic-metabolizing enzyme activities. In this study, metabolism-free genotoxicity of PCBs was investigated, using 10 tri- and tetrachlorobiphenyls, in V79, V79-Mz, and human hepatoma (HepG2) cell lines...
May 2017: Environmental and Molecular Mutagenesis
https://www.readbyqxmd.com/read/28444954/clinical-presentation-and-outcome-of-children-with-central-diabetes-insipidus-associated-with-a-self-limited-or-transient-pituitary-stalk-thickening-diagnosed-as-infundibuloneurohypophysitis
#4
J Schaefers, M Cools, K De Waele, I Gies, V Beauloye, P Lysy, I Francois, D Beckers, J De Schepper
OBJECTIVE: Despite lymphocytic or autoimmune infundibuloneurohypophysitis (INH) is an increasingly recognized etiology in children with central diabetes insipidus, clinical data on epidemiology (clinical evolution, predisposing factors, complications), diagnosis and management of this entity are limited and mostly based on published case reports. The aim of this study was to gain a broader insight in the natural history of this disease by analyzing the clinical presentation, radiological pituitary stalk changes, associated autoimmunity and hormonal deficiencies in children with CDI and a self-limiting or transient stalk thickening (ST), diagnosed as autoimmune INH, during the last 15 years in four Belgian university hospitals...
April 26, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28444329/the-eye-drop-preservative-benzalkonium-chloride-potently-induces-mitochondrial-dysfunction-and-preferentially-affects-lhon-mutant-cells
#5
Sandipan Datta, Christophe Baudouin, Francoise Brignole-Baudouin, Alexandre Denoyer, Gino A Cortopassi
Purpose: Benzalkonium chloride (BAK) is the most commonly used eye drop preservative. Benzalkonium chloride has been associated with toxic effects such as "dry eye" and trabecular meshwork degeneration, but the underlying biochemical mechanism of ocular toxicity by BAK is unclear. In this study, we propose a mechanistic basis for BAK's adverse effects. Method: Mitochondrial O2 consumption rates of human corneal epithelial primary cells (HCEP), osteosarcoma cybrid cells carrying healthy (control) or Leber hereditary optic neuropathy (LHON) mutant mtDNA [11778(G>A)], were measured before and after acute treatment with BAK...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28444220/a-panel-study-on-patients-with-dominant-cerebellar-ataxia-highlights-the-frequency-of-channelopathies
#6
Marie Coutelier, Giulia Coarelli, Marie-Lorraine Monin, Juliette Konop, Claire-Sophie Davoine, Christelle Tesson, Rémi Valter, Mathieu Anheim, Anthony Behin, Giovanni Castelnovo, Perrine Charles, Albert David, Claire Ewenczyk, Mélanie Fradin, Cyril Goizet, Didier Hannequin, Pierre Labauge, Florence Riant, Pierre Sarda, Yves Sznajer, François Tison, Urielle Ullmann, Lionel Van Maldergem, Fanny Mochel, Alexis Brice, Giovanni Stevanin, Alexandra Durr
Autosomal dominant cerebellar ataxias have a marked heterogeneous genetic background, with mutations in 34 genes identified so far. This large amount of implicated genes accounts for heterogeneous clinical presentations, making genotype-phenotype correlations a major challenge in the field. While polyglutamine ataxias, linked to CAG repeat expansions in genes such as ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A and TBP, have been extensively characterized in large cohorts, there is a need for comprehensive assessment of frequency and phenotype of more 'conventional' ataxias...
April 21, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28443337/inhaled-nanoparticles-accumulate-at-sites-of-vascular-disease
#7
Mark R Miller, Jennifer B Raftis, Jeremy P Langrish, Steven G McLean, Pawitrabhorn Samutrtai, Shea P Connell, Simon Wilson, Alex T Vesey, Paul H B Fokkens, A John F Boere, Petra Krystek, Colin J Campbell, Patrick W F Hadoke, Ken Donaldson, Flemming R Cassee, David E Newby, Rodger Duffin, Nicholas L Mills
The development of engineered nanomaterials is growing exponentially, despite concerns over their potential similarities to environmental nanoparticles that are associated with significant cardiorespiratory morbidity and mortality. The mechanisms through which inhalation of nanoparticles could trigger acute cardiovascular events are emerging, but a fundamental unanswered question remains: Do inhaled nanoparticles translocate from the lung in man and directly contribute to the pathogenesis of cardiovascular disease? In complementary clinical and experimental studies, we used gold nanoparticles to evaluate particle translocation, permitting detection by high-resolution inductively coupled mass spectrometry and Raman microscopy...
April 26, 2017: ACS Nano
https://www.readbyqxmd.com/read/28443262/a-rare-association-of-central-hypothyroidism-and-adrenal-insufficiency-in-a-boy-with-williams-beuren-syndrome
#8
Devi Dayal, Dinesh Giri, Senthil Senniappan
Primary hypothyroidism related to morphological and volumetric abnormalities of the thyroid gland is one of the commonest of several endocrine dysfunctions in Williams-Beuren syndrome (WBS). We report a 10-month-old boy with WBS who presented with central hypothyroidism. During the neonatal period, he had prolonged jaundice, feeding difficulties and episodes of colic that continued during early infancy. Additionally, there was slowing of growth and mild developmental delay. He underwent surgical repair for supravalvular aortic stenosis at 6 months of age...
March 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28443260/growth-without-growth-hormone-in-combined-pituitary-hormone-deficiency-caused-by-pituitary-stalk-interruption-syndrome
#9
Sang Soo Lee, A-Leum Han, Moon Bae Ahn, Shin Hee Kim, Won Kyoung Cho, Kyoung Soon Cho, So Hyun Park, Min Ho Jung, Byung-Kyu Suh
Growth hormone (GH) is an essential element for normal growth. However, reports of normal growth without GH have been made in patients who have undergone brain surgery for craniopharyngioma. Normal growth without GH can be explained by hyperinsulinemia, hyperprolactinemia, elevated leptin levels, and GH variants; however, its exact mechanism has not been elucidated yet. We diagnosed a female patient aged 13 with combined pituitary hormone deficiency (CPHD) caused by pituitary stalk interruption syndrome (PSIS)...
March 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28443156/serum-25-hydroxyvitamin-d-deficiency-and-hepatic-encephalopathy-in-chronic-liver-disease
#10
Helen Vidot, Alison Potter, Robert Cheng, Margaret Allman-Farinelli, Nicholas Shackel
AIM: To investigate the relationship between 25-hydroxyvitamin D (25-OHD) deficiency and hepatic encephalopathy (HE) in patients with chronic liver disease (CLD). METHODS: A retrospective analysis of the results of 392 adult patients with chronic liver disease who were assessed for liver transplantation between 2006 and 2010 was undertaken. HE, severity of CLD, nutritional status and 25-OHD were analysed in patients assessed for liver transplantation between 2006 and 2010...
April 8, 2017: World Journal of Hepatology
https://www.readbyqxmd.com/read/28442334/pica-practices-among-apparently-healthy-women-and-their-young-children-in-ghana
#11
B A Z Abu, V L van den Berg, J E Raubenheimer, V J Louw
BACKGROUND: Pica is an increased appetite/craving for food or non-food substances like clay, and chalk, and is strongly associated with iron deficiency (ID) anemia. This study assessed pica practices among non-pregnant mothers and their children, 12-to-59months, in an anemia endemic population in Ghana. SUBJECTS AND METHODS: A cross-sectional quantitative survey was conducted in two randomly selected districts in Northern Ghana. The researchers developed semi-structured questionnaires with components on pica practice, history and experiences and administered via structured face-to-face interviews with mothers (N=161)...
April 22, 2017: Physiology & Behavior
https://www.readbyqxmd.com/read/28442002/n2o-emission-and-hydroxylamine-oxidase-hao-activity-in-a-nitrogen-removal-process-based-on-activated-sludge-with-three-cod-nh4-ratios
#12
Zhi-Xian He, Lin-Jiang Yuan, Yi-Ni Wei, Ya-Ping Nan
  This study dealt with nitrous oxide (N2O) emission and hydroxylamine oxidase (HAO) activity of waste sludge in a nitrification and denitrification process employing three carbon nitrogen (C/N) ratios in a sequencing batch reactor (SBR). The experimental results indicated that N2O emission increased dramatically after the C/N ratio in the sludge increased from 6.5 to 9.3, which was greater than the N2O emission at two other C/N ratios (3.5, 6.5). The HAO activity in the anoxic period was higher with all three C/N ratios than in the aerobic period...
May 1, 2017: Water Environment Research: a Research Publication of the Water Environment Federation
https://www.readbyqxmd.com/read/28441855/-correlation-between-mismatch-repair-proteins-status-and-clinicopathological-characteristics-in-sporadic-colorectal-cancer-patients
#13
Z T Xiao, R X Zhang, Y Zhao, J H Peng, S X Lu, H Z Zhang, P R Ding, X J Wu, Z H Lu, L R Li, D S Wan, Z Z Pan, G Chen
Objective: To explore the expression of mismatch repair (MMR) proteins in sporadic colorectal cancer (SCRC) patients, and its association with clinicopathological characteristics of SCRC. Methods: Patients with histologically confirmed colorectal cancer were consecutively recruited between December 2011 and June 2015 at Sun Yat-sen University Cancer Center. The exclusion criteria included multiple primary colorectal tumors, hereditary colorectal cancer (including Lynch syndrome, familial adenomatous polyposis), and the patients without the MMR proteins status tested...
April 25, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28441414/regional-early-and-progressive-loss-of-brain-pericytes-but-not-vascular-smooth-muscle-cells-in-adult-mice-with-disrupted-platelet-derived-growth-factor-receptor-%C3%AE-signaling
#14
Angeliki Maria Nikolakopoulou, Zhen Zhao, Axel Montagne, Berislav V Zlokovic
Pericytes regulate key neurovascular functions of the brain. Studies in pericyte-deficient transgenic mice with aberrant signaling between endothelial-derived platelet-derived growth factor BB (PDGF-BB) and platelet-derived growth factor receptor β (PDGFRβ) in pericytes have contributed to better understanding of the role of pericytes in the brain. Here, we studied PdgfrβF7/F7 mice, which carry seven point mutations that disrupt PDGFRβ signaling causing loss of pericytes and vascular smooth muscle cells (VSMCs) in the developing brain...
2017: PloS One
https://www.readbyqxmd.com/read/28440917/atf3-inhibits-the-inflammation-induced-by-mycoplasma-pneumonia-in-vitro-and-in-vivo
#15
Jing Wang, Wei Cheng, Zhen Wang, Lihong Xin, Wen Zhang
OBJECTIVES: Activating transcription factor-3 (ATF3) is a key regulator of inflammatory responses. We aimed to investigate the effects and mechanisms of ATF3 on the inflammatory cytokines are induced by Mycoplasma pneumonia (MP). STUDY DESIGN: RAW264.7 and mouse peritoneal macrophages were exposed to various time with or without MP infection (3, 6, 12, 24, and 48 h), and detect the expression of ATF3. Adenovirus-expression of ATF3 (Ad/ATF3) or Ad/βgal was transfected into cells which were exposed to MP for 48 h, RT-PCR and ELISA was used to evaluate the expression and secretion of TNF-α, IL-1β, IL-6, and IL-18...
April 25, 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28440604/a-proposed-novel-framework-for-monitoring-and-evaluation-of-the-cascade-of-hiv-associated-tb-care-at-the-health-facility-level
#16
Colleen F Hanrahan, Annelies Van Rie
INTRODUCTION: The rapid and accurate diagnosis of HIV-associated tuberculosis (TB), timely initiation of curative or preventative treatment and assurance of favourable treatment outcomes is a complex process. The current system of monitoring and reporting TB diagnosis and treatment does not include several key aspects of the care cascade, and may obscure systematic bottlenecks, inefficiencies or sources of sub-optimal care. METHODS: We critically reviewed the current World Health Organizations recommended system of monitoring and reporting, and identified the following key deficiencies that could limit the ability of healthcare workers to identify structural problems in the provision of TB/HIV care...
April 20, 2017: Journal of the International AIDS Society
https://www.readbyqxmd.com/read/28439619/association-between-bone-mineral-density-muscle-strength-and-vitamin-d-status-in-patients-with-myasthenia-gravis-a-cross-sectional-study
#17
Y Guan, F Lv, Y Meng, D Ma, X Xu, Y Song, O Wang, Y Jiang, W Xia, X Xing, J Zhang, M Li
Myasthenia gravis (MG) patients had low proximal hip BMD, which could be explained by reduced muscle strength, elevated bone resorption markers, vitamin D deficiency, and increased PTH levels in those with MG compared to controls. INTRODUCTION: Muscle strength is closely correlated with bone mineral density (BMD) and vitamin D status. Here, we evaluated muscle strength, BMD, and vitamin D status in a large sample of Chinese patients with MG. METHODS: In this cross-sectional survey, 86 patients with MG without glucocorticoid treatment and 86 healthy controls were included...
April 24, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28438604/first-reported-chinese-case-of-guanidinoacetate-methyltransferase-deficiency-in-a-4-year-old-child
#18
Weihua Sun, Yi Wang, Zhen Zu, Jiang Yi, Wei Lu, Huijun Wang, Bingbing Wu, Ping Zhang, Xiaomin Peng, Hao Zhou
Guanidinoacetate methyltransferase (GAMT) deficiency is a rare inherited disorder characterized by creatine (Cr) depletion and guanidinoacetate (GAA) accumulation in body fluids. We report the first identified Chinese case, diagnosed in a 4-year-old girl with onset of global developmental. Low Cr and high GAA levels were detected in her serum and urine, and low Cr level in her brain. Compound heterozygous variants in GAMT gene were found, including a previously reported variant at c.491dupG which was inherited from her mother and a novel variant at c...
April 21, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28438442/molecular-identification-of-enterocytozoon-bieneusi-and-encephalitozoon-spp-in-immunodeficient-patients-in-ahvaz-southwest-of-iran
#19
Mehdi Tavalla, Masoumeh Mardani-Kateki, Rahman Abdizadeh, Roohangiz Nashibi, Abdollah Rafie, Shahram Khademvatan
Microsporidia are often considered as an opportunistic infection in patients with impaired immune systems such as transplant recipients and patients with acquired immune deficiency syndrome (AIDS). Due to the increasing prevalence of parasitic infections and immunodeficiency diseases; the aim of the study is to evaluate molecular identification of Enterocytozoon bieneusi and Encephalitozoon spp. in immunodeficient patients in Ahvaz, southwest of Iran. At first, 310 stool samples were collected from patients with immunodeficiency...
April 21, 2017: Acta Tropica
https://www.readbyqxmd.com/read/28437926/demonstration-of-a-dual-mode-si-detector-as-a-self-calibrating-device-at-room-temperature
#20
Marit Ulset Nordsveen, Chi Kwong Tang, Jarle Gran
We demonstrate the use of a dual-mode detector for determining the internal quantum deficiency of a silicon photodiode without the use of an external reference. This is achieved by combining two different principles for measuring optical power in one device, where the photodiode is used as absorber for both thermal and photon detection. Thermal detection is obtained by the same principle as for an electrical substitution radiometer (ESR), with a type A measurement uncertainty of 0.34 % in unstabilized room temperature...
April 17, 2017: Optics Express
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