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AT-3 deficiency

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https://www.readbyqxmd.com/read/29334518/is-ileocecal-valve-intubation-essential-for-routine-colonoscopic-examination
#1
Murat Meral, Göksel Bengi, Hasan Kayahan, Mesut Akarsu, Müjde Soytürk, Ömer Topalak, Hale Akpinar, Özgül Sağol
BACKGROUND: In this study, we aimed to assess the diagnostic yield of terminal ileum intubation during routine colonoscopy. MATERIALS AND METHODS: We routinely performed terminal ileum intubation in all patients who underwent colonoscopy at Dokuz Eylul University Hospital between February 2014 and June 2015. Two gastroenterology fellows performed colonoscopies in the Central Endoscopy Unit. Demographic data of patients, indications of colonoscopies, cecum and ileum intubation rate/time, and endoscopic and histopathologic findings of the terminal ileum were all assessed...
January 12, 2018: European Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/29334403/soft-tissue-volume-gain-around-dental-implants-using-autogenous-subepithelial-connective-tissue-grafts-harvested-from-the-lateral-palate-or-tuberosity-area-a-randomized-controlled-clinical-study
#2
Ernest Rojo, Giorgio Stroppa, Ignacio Sanz-Martin, Oscar Gonzalez-Martín, Antonio Santos Alemany, José Nart
AIM: To compare the soft tissue volume gain (VG) around single tooth implants with subepithelial connective tissue graft (SCTG) from either the lateral palate (LP) or from the tuberosity area (TA). METHODS: 32 patients with 36 implants with buccal volume deficiencies were randomly assigned to receive SCTG from LP (control group/CG) or TA (test group/TG). Clinical parameters were recorded and volume gain was evaluated by STL image superimposition of 2 intraoral scans (baseline/BL and 3 months after surgery/FU-3)...
January 15, 2018: Journal of Clinical Periodontology
https://www.readbyqxmd.com/read/29331722/effect-of-vitamin-d-supplementation-on-serum-sclerostin-levels-in-chronic-kidney-disease
#3
REVIEW
Ashok Kumar Yadav, Vivek Kumar, Debasish Banerjee, Krishan Lal Gupta, Vivekanand Jha
Vitamin D deficiency, cardiovascular disease and abnormal bone mineral metabolism are common in chronic kidney disease (CKD). Abnormal bone mineral metabolism has been linked to vascular calcification in CKD. Sclerostin has emerged as an important messenger in cross talk between bone-vascular axis. We analyzed sclerostin in subjects who participated in the randomized, double blind, placebo controlled trial investigating the effect of cholecalciferol supplementation on vascular function in non-diabetic CKD stage G3-4 and vitamin D ≤20ng/ml [CTRI/2013/05/003648]...
January 10, 2018: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29331417/down-regulation-of-rip3-potentiates-cisplatin-chemoresistance-by-triggering-hsp90-erk-pathway-mediated-dna-repair-in-esophageal-squamous-cell-carcinoma
#4
Yulin Sun, Linhui Zhai, Shouzhi Ma, Chengpu Zhang, Lina Zhao, Ning Li, Yang Xu, Tao Zhang, Zhimin Guo, Heng Zhang, Ping Xu, Xiaohang Zhao
Receptor interacting protein kinase 3 (RIP3) is a critical regulator of programmed necrotic cell death. Here, we observed that RIP3 was significantly down-regulated in esophageal cancer. And its remaining expression was associated with better response to chemotherapy and prolonged survival. Notably, re-expression of kinase-dead RIP3 also restored cisplatin sensitivity, suggesting that some roles of RIP3 beyond necroptosis may be involved in cisplatin-based chemosensitivity. To investigate the mechanisms, a large-scale quantitative proteomics study was performed after cisplatin treatment in RIP3-knockdown cells...
January 10, 2018: Cancer Letters
https://www.readbyqxmd.com/read/29331171/the-genotypic-and-phenotypic-spectrum-of-mto1-deficiency
#5
James J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, Michael Champion, Charu Deshpande, Ali Dursun, Riza K Ozgul, Peter Freisinger, Ian Garber, Tobias B Haack, Rita Horvath, Ivo Barić, Ralf A Husain, Leo A J Kluijtmans, Urania Kotzaeridou, Andrew A Morris, Colin J Ross, Saikat Santra, Jan Smeitink, Mark Tarnopolsky, Saskia B Wortmann, Johannes A Mayr, Michaela Brunner-Krainz, Holger Prokisch, Wyeth W Wasserman, Ron A Wevers, Udo F Engelke, Richard J Rodenburg, Teck Wah Ting, Robert McFarland, Robert W Taylor, Ramona Salvarinova, Clara D M van Karnebeek
BACKGROUND: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10)...
January 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29330997/comparison-of-different-formulations-of-vitamin-d
#6
Hafiz Muhammad Fahan Rashid, Uneeba Syed, Zaheer Ahmad, Kbaa Khalil Chauhdary, Usman Musharraf, Suresh Kumar
BACKGROUND: Vitamin D Deficiency (VDD) is responsible for a wide spectrum of clinical diseases and vitamin D deficiency prevalence is frightening in most parts of the world including Pakistan. Therefore, supplementations of vitamin D are used in the population at high risk for the prevention and the treatment of vitamin D deficiency. Vitamin D supplementation comes in various formulations both oral and intramuscular. Cholecalciferol is the most commonly used preparation which is given through these routes of administration...
October 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/29330684/investigation-of-mature-bdnf-and-probdnf-signaling-in-a-rat-photothrombotic-ischemic-model
#7
Mehreen Rahman, Haiyun Luo, Neil R Sims, Larisa Bobrovskaya, Xin-Fu Zhou
Treatment with mature brain-derived neurotrophic factor (mBDNF) promotes functional recovery after ischemia in animal trials but the possible role of its precursor protein proBDNF and its receptors or the factors responsible for the conversion of proBDNF to mBDNF in ischemic stroke are not known. The main aim of this study was to characterize the time-dependent expression of genes and/or proteins related to BDNF processing and signaling after ischemia as well as the sensorimotor behavioral dysfunction in a photothrombotic ischemic model in rats...
January 12, 2018: Neurochemical Research
https://www.readbyqxmd.com/read/29329957/safety-and-tolerability-of-a-novel-polyclonal-human-anti-mers-coronavirus-antibody-produced-from-transchromosomic-cattle-a-phase-1-randomised-double-blind-single-dose-escalation-study
#8
John H Beigel, Jocelyn Voell, Parag Kumar, Kanakatte Raviprakash, Hua Wu, Jin-An Jiao, Eddie Sullivan, Thomas Luke, Richard T Davey
BACKGROUND: Middle East respiratory syndrome (MERS) is a severe respiratory illness with an overall mortality of 35%. There is no licensed or proven treatment. Passive immunotherapy approaches are being developed to prevent and treat several human medical conditions where alternative therapeutic options are absent. We report the safety of a fully human polyclonal IgG antibody (SAB-301) produced from the hyperimmune plasma of transchromosomic cattle immunised with a MERS coronavirus vaccine...
January 9, 2018: Lancet Infectious Diseases
https://www.readbyqxmd.com/read/29329713/baseline-and-pre-operative-1-year-mortality-risk-factors-in-a-cohort-of-509-hip-fracture-patients-consecutively-admitted-to-a-co-managed-orthogeriatric-unit-fonda-cohort
#9
Rocío Menéndez-Colino, Teresa Alarcon, Pilar Gotor, Rocío Queipo, Raquel Ramírez-Martín, Angel Otero, Juan I González-Montalvo
INTRODUCTION: The aim of this study was to determine the patient characteristics that predict 1-year mortality after a hip fracture (HF). METHODS: All patients admitted consecutively with fragility HF during 1 year in a co-managed orthogeriatric unit of a university hospital (FONDA cohort) were assesed. Baseline and admission demographic, clinical, functional, analytical and body-composition variables were collected in the first 72 h after admission. A protocol designed to minimize the consequences of the HF was applied...
January 6, 2018: Injury
https://www.readbyqxmd.com/read/29329588/accuracy-of-four-mononucleotide-repeat-markers-for-the-identification-of-dna-mismatch-repair-deficiency-in-solid-tumors
#10
Yuko Takehara, Takeshi Nagasaka, Akihiro Nyuya, Tomoko Haruma, Junko Haraga, Yoshiko Mori, Keiichiro Nakamura, Toshiyoshi Fujiwara, C Richard Boland, Ajay Goel
BACKGROUND: To screen tumors with microsatellite instability (MSI) arising due to DNA mismatch repair deficiency (dMMR), a panel of five quasi-monomorphic mononucleotide-repeat markers amplified in a multiplex PCR (Pentaplex) are commonly used. In spite of its several strengths, the pentaplex assay is not robust at detecting the loss of MSH6-deficiency (dMSH6). In order to overcome this challenge, we designed this study to develop and optimize a panel of four quasi-monomorphic mononucleotide-repeat markers (Tetraplex) for identifying solid tumors with dMMR, especially dMSH6...
January 12, 2018: Journal of Translational Medicine
https://www.readbyqxmd.com/read/29329394/analysis-of-the%C3%A2-aedes-albopictus%C3%A2-c6-36-genome-provides-insight-into-cell-line-utility-for-viral-propagation
#11
Jason R Miller, Sergey Koren, Kari A Dilley, Vinita Puri, David M Brown, Derek M Harkins, Françoise Thibaud-Nissen, Benjamin Rosen, Xiao-Guang Chen, Zhijian Tu, Igor V Sharakhov, Maria V Sharakhova, Robert Sebra, Timothy B Stockwell, Nicholas H Bergman, Granger G Sutton, Adam M Phillippy, Peter M Piermarini, Reed S Shabman
Background: The 50-year old Aedes albopictus C6/36 cell line is a resource for the detection, amplification, and analysis of mosquito-borne viruses including Zika, dengue, and chikungunya. The cell line is derived from an unknown number of larvae from an unspecified strain of Aedes albopictus mosquitoes. Toward improved utility of the cell line for research in virus transmission, we present an annotated assembly of the C6/36 genome. Results: The C6/36 genome assembly has the largest contig N50 (3...
January 10, 2018: GigaScience
https://www.readbyqxmd.com/read/29329244/infant-development-at-the-age-of-6-months-in-relation-to-feeding-practices-iron-status-and-growth-in-a-peri-urban-community-of-south-africa
#12
Marinel Rothman, Mieke Faber, Namukolo Covic, Tonderayi M Matsungo, Marike Cockeran, Jane D Kvalsvig, Cornelius M Smuts
BACKGROUND: Evidence on the association between feeding practices, iron deficiency, anaemia, stunting, and impaired psychomotor development during infancy is limited. This study assessed the association between psychomotor development with early feeding practices, growth, iron status, and anaemia. METHODS: This was cross-sectional baseline data of a randomised controlled trial which included 6-month-old infants and their mothers or primary caregivers (n = 750) in a peri-urban community in the North West province of South Africa...
January 12, 2018: Nutrients
https://www.readbyqxmd.com/read/29328466/knockdown-of-immature-colon-carcinoma-transcript%C3%A2-1-induces-suppression-of-proliferation-s-phase-arrest-and-apoptosis-in-leukemia-cells
#13
Guang-Yao Li, Ji-Zhu Liu, Li Zhang, Guo-Zhen Liu, Shuang-Jing Li, Tai-Wu Xiao, Jing-Xia Wang, Le-Xin Wang, Ming Hou
Immature colon carcinoma transcript 1 (ICT1), a human mitochondrial translation release factor, is a ribosome-dependent codon-independent peptidyl-tRNA hydrolase. ICT1-deficiency has been recognized as a cell growth inhibitor of hepatoblastoma and glioblastoma multiforme. To explore the role of ICT1 in human leukemia, 2 short hairpin RNAs (shRNAs) targeting ICT1 sequences were designed in leukemia U937 cells. The successful infection of ICT1 in the U937 cells was observed under a fluorescence microscope and further quantified by western blotting and quantitative real-time PCR (qRT-PCR) analysis...
January 3, 2018: Oncology Reports
https://www.readbyqxmd.com/read/29328376/identification-of-a-novel-compound-heterozygous-mutation-of-the-cyp21a2-gene-causing-21%C3%A2-hydroxylase-deficiency-in-a-chinese-pedigree
#14
Jia Liu, Xiujuan Zhang, Haiqing Zhang, Li Fang, Jin Xu, Qingbo Guan, Chao Xu
21‑Hydroxylase deficiency (21‑OHD) is the most common cause of congenital adrenal hyperplasia. Inherited in an autosomal recessive manner, 21‑OHD is caused by mutations in the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene. The present study was designed to investigate the genetic characteristics of one Chinese pedigree and to identify the genotype‑phenotype association, thereby facilitating the precise diagnosis of 21‑OHD at the molecular level. Members of a Chinese family with 21‑OHD were screened for mutations in the CYP21A2 gene...
January 8, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29328058/behaviour-of-niobium-during-early-earth-s-differentiation-insights-from-its-local-structure-and-oxidation-state-in-silicate-melts-at-high-pressure
#15
Chrystele Sanloup, Benjamin Cochain, Charlotte de Grouchy, Konstantin Glazyrin, Zuzana Konopkova, Hanns-Peter Liermann, Innokenty Kantor, Raffaella Torchio, O Mathon, Tetsuo Irifune
Niobium (Nb) is one of the key trace elements used to understand Earth's formation and differentiation, and is remarkable for its deficiency relative to tantalum in terrestrial rocks compared to the building chondritic blocks. In this context, the local environment of Nb in silica-rich melts and glasses is studied by in situ X-ray absorption spectroscopy (XAS) at high pressure (P) up to 9.3 GPa and 1350 K using resistive-heating diamond-anvil cells. Nb is slightly less oxidized in the melt (intermediate valence between +4 and +5) than in the glass (+5), an effect evidenced from the shift of the Nb-edge towards lower energies...
January 12, 2018: Journal of Physics. Condensed Matter: An Institute of Physics Journal
https://www.readbyqxmd.com/read/29328024/endometrial-polyps-in-women-of-reproductive-age-clinical-and-pathogene-tic-variations
#16
N Kosei, N Zakharenko, D Herman
The aim of the study was to study the relationship between the morphofunctional characteristics of the endometrium, hormonal homeostasis and microbiocenosis of the reproductive system in patients with endometrial polyps. The study involved 130 patients aged 18-35 years: 34 patients with endometrial polyps, 30 patients with micropolyps, 36 patients with endometrial polyps and micropolyps, 30 healthy women of the control group. Hysteroscopy was performed for women who had been suspected for endometrial polyps and who had infertility or repeated recurrent miscarriages...
December 2017: Georgian Medical News
https://www.readbyqxmd.com/read/29326902/low-intensity-training-provokes-adaptive-extracellular-matrix-turnover-of-a-muscular-dystrophy-model
#17
Thaís P Gaiad, Murilo X Oliveira, Adalfredo R Lobo, Lívia R Libório, Priscilla A F Pinto, Danielle C Fernandes, Ana Paula Santos, Carlos Eduardo Ambrósio, Alex Sander D Machado
Recommendations of therapeutic exercise in Duchenne muscular dystrophy are still controversial. The hypothesis that a low-intensity training (LIT) protocol leads to muscle adaptations on mdx mice model was tested. Dystrophic male mice with 8 weeks old were separated in exercised (mdxE, n= 8) and sedentary (mdxC, n= 8) groups. Wild-type mice were used as control (WT, n= 8) group. Exercised group underwent a LIT protocol (9 m/min, 30 min, 3 days/wk, 60 days) on a horizontal treadmill. At day 60 all animals were analyzed regarding parameters of markers of muscle lesion and extracellular matrix turnover of muscle tissue by collagens fibers on tibial anterior muscle...
December 2017: Journal of Exercise Rehabilitation
https://www.readbyqxmd.com/read/29326806/negative-impact-of-prolonged-antibiotics-or-persistent-diarrhea-on-vitamin-k1-levels-in-2-24-weeks-aged-egyptian-infants
#18
Mohsen S Elalfy, Fatma S E Ebeid, Iman A Elagouza, Fatma A Ibrahim, Noura B M Hassan, Beshoy A Botros
Background: To evaluate the hazard of prolonged antibiotic therapy and/or persistent diarrhea on vitamin K1 (VK1) level and bleeding profile in infants (2-24 weeks). Methods: A one-year case-control study, conducted at Ain Shams University, Egypt. 338 infants (2-24 weeks) were recruited and divided into 3 groups (1:1:3 ratios); group A (n=67) patients who received antibiotics for ≥10 days, group B (n=67) who had persistent diarrhea ≥ 14 days and group C (n=204) age- and gender- matched infants who had not either received antibiotics nor had diarrhea...
2018: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/29326421/vitamin-d3-fortified-milk-did-not-affect-glycemic-control-lipid-profile-and-anthropometric-measures-in-patients-with-type-2-diabetes-a-triple-blind-randomized-clinical-trial
#19
Saedeh Salehi, Fatemeh Sadeghi, Masoumeh Akhlaghi, Mohammad Amin Hanifpour, Mahdi Roshanzamir
BACKGROUND/OBJECTIVES: The effect of vitamin D on glycemic status of diabetes patients is controversial. The objective was to assess the effect of vitamin D3-fortified milk on cardiometabolic markers of patients with type 2 diabetes. SUBJECTS/METHODS: In this randomized triple-blind, placebo-controlled trial, 102 patients (34 males and 68 females) aged 31-74 years with type 2 diabetes were randomized to receive either 250 ml unfortified or 250 ml 1000 IU vitamin D3-fortified milk daily for 9 weeks...
January 11, 2018: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29325813/cardiac-function-and-exercise-adaptation-in-8-children-with-lpin1-mutations
#20
Antoine Legendre, Diala Khraiche, Phalla Ou, François-Xavier Mauvais, Marine Madrange, Anne-Sophie Guemann, Jean-Philippe Jais, Damien Bonnet, Yamina Hamel, Pascale de Lonlay
INTRODUCTION: Lipin-1 deficiency is a major cause of rhabdomyolysis that are precipitated by febrile illness. The prognosis is poor, with one-third of patients dying from cardiac arrest during a crisis episode. Apart from acute rhabdomyolysis, most patients are healthy, showing normal clinical and cardiac ultrasound parameters. PATIENTS AND METHODS: We report cardiac and exercise examinations of 8 children carrying two LPIN1 mutations. The examinations were performed outside of a myolysis episode, but one patient presented with fever during one examination...
January 5, 2018: Molecular Genetics and Metabolism
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