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AT-3 deficiency

Lawrence Mj Best, Yemisi Takwoingi, Sulman Siddique, Abiram Selladurai, Akash Gandhi, Benjamin Low, Mohammad Yaghoobi, Kurinchi Selvan Gurusamy
BACKGROUND: Helicobacter pylori (H pylori) infection has been implicated in a number of malignancies and non-malignant conditions including peptic ulcers, non-ulcer dyspepsia, recurrent peptic ulcer bleeding, unexplained iron deficiency anaemia, idiopathic thrombocytopaenia purpura, and colorectal adenomas. The confirmatory diagnosis of H pylori is by endoscopic biopsy, followed by histopathological examination using haemotoxylin and eosin (H & E) stain or special stains such as Giemsa stain and Warthin-Starry stain...
March 15, 2018: Cochrane Database of Systematic Reviews
S Mashlab, P Large, W Laing, O Ng, M D'Auria, D Thurston, S Thomson, A G Acheson, D J Humes, A Banerjea
Introduction Anaemia is associated with cancer. In 2014 a new form was introduced in our department requesting a haemoglobin (Hb) result on every two-week wait referral for suspected colorectal cancer (CRC). The aim of this study was to review the impact of this intervention. In particular, the significance of any evidence of anaemia (without additional indices) was investigated. Methods A review was conducted of 1,500 consecutive suspected CRC referrals recorded prospectively over a 10-month period. Data on demographics, referral Hb, referral criteria and outcomes were analysed...
March 15, 2018: Annals of the Royal College of Surgeons of England
James C Barton, Jackson Clayborn Barton, Luigi F Bertoli
BACKGROUND: We sought to learn more about the utility and safety of implanted ports for monthly immunoglobulin G infusions in adults with primary immune deficiency. METHODS: We reviewed charts of adults who were referred to a single practice during the interval 2006-2016 for evaluation and management of frequent or severe upper and lower respiratory tract and other infections, subnormal total immunoglobulin G or immunoglobulin G subclasses, and suboptimal responses to polyvalent pneumococcal polysaccharide vaccinations; were diagnosed to have primary immune deficiency; and were advised to undergo immunoglobulin G therapy...
March 1, 2018: Journal of Vascular Access
Mengran Liu, Guoli Fan, Jiaying Yu, Lan Yang, Feng Li
Tuning the surface properties of supported metal catalysts is of vital importance for governing their catalytic performances in nanocatalysis. Here, we report highly dispersed nanometric gold nanoparticles (NPs) supported on Ni-Ti layered double hydroxides (NiTi-LDHs), which were employed in solvent-free and base-free selective oxidation of benzyl alcohol. A series of characterization techniques demonstrated that defect-rich NiTi-LDHs could efficiently stabilize Au NPs and decrease surface electron density of Au NPs...
March 15, 2018: Dalton Transactions: An International Journal of Inorganic Chemistry
Gülsüm Özkan, Gaye Kübra Emeksiz, Reşit Volkan Atar, Samet Sedef, Pınar Sonat Kara, Meltem Öznur, Burhan Turgut
Purpura fulminans associated with antithrombin 3 (AT 3) deficiency is very rare in adults and neonates. It can be categorized into three principal forms - neonatal, idiopathic and acute infectious. Purpura fulminans has been reported to cause cardiac, pulmonary and renal damage in rare cases. We describe an adult case of purpura fulminans developing in association with AT 3 deficiency without infection following a surgical procedure, and acute kidney injury (AKI) developing secondary to rhabdomyolysis and disseminated intravascular coagulation (DIC)...
2018: Journal of Nippon Medical School, Nippon Ika Daigaku Zasshi
Christabel Y L Chan, Kum C Hiong, Mel V Boo, Celine Y L Choo, Wai P Wong, Shit F Chew, Yuen K Ip
Giant clams live in nutrient-poor reef waters of the Indo-Pacific and rely on symbiotic dinoflagellates ( Symbiodinium spp., also known as zooxanthellae) for nutrients. As the symbionts are nitrogen deficient, the host clam has to absorb exogenous nitrogen and supply it to them. This study aimed to demonstrate light-enhanced urea absorption in the fluted giant clam, Tridacna squamosa , and to clone and characterize the urea active transporter, DUR3-like, from its ctenidium (gill). Results indicate that T. squamosa could absorb exogenous urea, and the rate of urea uptake in light was significantly higher than that in darkness...
March 14, 2018: Journal of Experimental Biology
Ronald J Maughan, Louise M Burke, Jiri Dvorak, D Enette Larson-Meyer, Peter Peeling, Stuart M Phillips, Eric S Rawson, Neil P Walsh, Ina Garthe, Hans Geyer, Romain Meeusen, Lucas J C van Loon, Susan M Shirreffs, Lawrence L Spriet, Mark Stuart, Alan Vernec, Kevin Currell, Vidya M Ali, Richard Gm Budgett, Arne Ljungqvist, Margo Mountjoy, Yannis P Pitsiladis, Torbjørn Soligard, Uğur Erdener, Lars Engebretsen
Nutrition usually makes a small but potentially valuable contribution to successful performance in elite athletes, and dietary supplements can make a minor contribution to this nutrition programme. Nonetheless, supplement use is widespread at all levels of sport. Products described as supplements target different issues, including (1) the management of micronutrient deficiencies, (2) supply of convenient forms of energy and macronutrients, and (3) provision of direct benefits to performance or (4) indirect benefits such as supporting intense training regimens...
March 14, 2018: British Journal of Sports Medicine
Huseyin Burak Kutlu, Samir Goyushov, Bünyamin Calisan, Tolga F Tözüm
OBJECTIVE: Loss of teeth frequently results in compound horizontal and vertical alveolar bone defects. An appropriate bone structure is the key for implant placement and bony support of soft tissues. Advanced bone augmentation techniques are required for the reconstruction of these defects. This report will present a new bone block grafting technique with 12-month follow-up. METHOD: The seedling technique was used to augment the alveolar bone 3-dimensionally with autologous bone block and an osseointegrated implant in a 2-stage procedure...
March 13, 2018: Journal of Craniofacial Surgery
Delia Aguado, Rocío Bustamante, Ignacio A Gómez de Segura
BACKGROUND: Drugs with antagonistic actions on the Toll-like receptor 4 (Tlr4), such as naloxone at ultra low doses, have been used to inhibit opioid-induced hyperalgesia in rodents suggesting the involvement of this receptor and pathway on opioid-induced hyperalgesia. OBJECTIVE: The aim of this study was to determine whether mice without the Tlr4 gene (Tlr4) would not develop remifentanil-induced hyperalgesia. DESIGN: An experimental randomised animal study...
March 13, 2018: European Journal of Anaesthesiology
Justine M Abais-Battad, Hayley Lund, Daniel J Fehrenbach, John Henry Dasinger, David L Mattson
The current study, performed in Dahl Salt-Sensitive (SS) and SS-Rag1-/- rats lacking T- and B- lymphocytes, tested the hypothesis that immune cells amplify salt-sensitive hypertension and kidney damage in response to a high protein diet. After weaning, SS and SS-Rag1-/- rats were placed on an isocaloric, 0.4% NaCl diet containing normal (18%) or high (30%) protein. At 9 weeks of age, rats were switched to a 4.0% NaCl diet containing the same amount of dietary protein and maintained on the high salt diet for 3 weeks...
March 14, 2018: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
Dolly A Parasrampuria, Leslie Z Benet, Amarnath Sharma
New drug development is both resource and time intensive, where later clinical stages result in significant costs. We analyze recent late-stage failures to identify drugs where failures result from inadequate scientific advances as well as drugs where we believe pitfalls could have been avoided. These can be broadly classified into two categories: 1) where science is mature and the failures can be avoided through rigorous and prospectively determined decision-making criteria, scientific curiosity, and discipline to follow up on emerging findings; and 2) where problems encountered in Phase 3 failures cannot be explained at this time, as the science is not sufficiently advanced and companies/investigators need to recognize the possibility of deficiency of our knowledge...
March 13, 2018: AAPS Journal
Eduardo Méndez, Cristina P Rodriguez, Micheal Kao, Sharat C Raju, Ahmed Diab, Richard A Harbison, Eric Q Konnick, Ganesh Mugundu, Rafael Santana-Davila, Renato Martins, Neal D Futran, Laura Q M Chow
PURPOSE: The WEE1 tyrosine kinase regulates G2/M transition and maintains genomic stability, particularly in p53-deficient tumors which require DNA repair after genotoxic therapy. There is a need to exploit the role of WEE1 inhibition in head and neck squamous cell carcinoma (HNSCC) mostly driven by tumor-suppressor loss. This completed phase I clinical trial represents the first published clinical experience using the WEE1 inhibitor, AZD1775, with cisplatin and docetaxel. EXPERIMENTAL DESIGN: We implemented an open-label phase I clinical trial using a 3+3 dose-escalation design for patients with Stage III/IVB HNSCC with borderline-resectable or unresectable disease, who were candidates for definitive chemoradiation...
March 13, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
Chihiro Tanikawa, Kae Hirata, Tomonao Aikawa, Jun Maeda, Mikihiko Kogo, Seiji Iida, Takashi Yamashiro
OBJECTIVES: To evaluate the effects of maxillary anterior segmental distraction osteogenesis (MASDO) in patients with cleft lip and palate (CLP) and to identify risk factors for increased relapse. DESIGN: A retrospective study. PATIENTS: Thirty-one Japanese patients with CLP who underwent MASDO were eligible for study inclusion. MAIN OUTCOME MEASURES: We evaluated lateral cephalograms obtained before (T1), at 3 months (T2), and at 1 year (T3) after MASDO, and measured changes from T1 to T2 (δT1T2), from T2 to T3 (δT2T3), and from T1 to T3 (δT1T3)...
January 1, 2018: Cleft Palate-craniofacial Journal
Jessica R Zolton, Toral P Parikh, Dennis D Hickstein, Steven M Holland, Micah J Hill, Alan H DeCherney, Erin F Wolff
PURPOSE: To describe controlled ovarian stimulation (COS) in a population of women with GATA2 deficiency, a genetic bone marrow failure syndrome, prior to allogeneic hematopoietic stem cell transplant METHODS: This is a retrospective case series of nine women with GATA2 deficiency who underwent oocyte preservation at a research institution. Main outcomes measured include baseline fertility characteristics ((antimullerian hormone (AMH) and day 3 follicle-stimulating hormone (FSH) and estradiol (E2)) and total doses of FSH and human menopausal gonadotropins (HMG), E2 on day of trigger, and total number of metaphase II oocytes retrieved...
March 13, 2018: Journal of Assisted Reproduction and Genetics
You-Hong Fang, You-You Luo, Jin-Dan Yu, Jin-Gan Lou, Jie Chen
AIM: To analyze clinical differences between monogenic and nonmonogenic very-early-onset inflammatory bowel disease (VEO-IBD) and to characterize monogenic IBD phenotypically and genotypically via genetic testing. METHODS: A retrospective analysis of children aged 0 to 6 years diagnosed with VEO-IBD in a tertiary hospital in southern China from 2005 to 2017 was performed. Clinical data for VEO-IBD patients were collected, and genetic characteristics were analyzed using whole exome sequencing or target gene panel sequencing...
March 7, 2018: World Journal of Gastroenterology: WJG
Cyril Rivat, Chamroeun Sar, Ilana Mechaly, Jean-Philippe Leyris, Lucie Diouloufet, Corinne Sonrier, Yann Philipson, Olivier Lucas, Sylvie Mallié, Antoine Jouvenel, Adrien Tassou, Henri Haton, Stéphanie Venteo, Jean-Philippe Pin, Eric Trinquet, Fabienne Charrier-Savournin, Alexandre Mezghrani, Willy Joly, Julie Mion, Martine Schmitt, Alexandre Pattyn, Frédéric Marmigère, Pierre Sokoloff, Patrick Carroll, Didier Rognan, Jean Valmier
Peripheral neuropathic pain (PNP) is a debilitating and intractable chronic disease, for which sensitization of somatosensory neurons present in dorsal root ganglia that project to the dorsal spinal cord is a key physiopathological process. Here, we show that hematopoietic cells present at the nerve injury site express the cytokine FL, the ligand of fms-like tyrosine kinase 3 receptor (FLT3). FLT3 activation by intra-sciatic nerve injection of FL is sufficient to produce pain hypersensitivity, activate PNP-associated gene expression and generate short-term and long-term sensitization of sensory neurons...
March 12, 2018: Nature Communications
Jennifer M SanMiguel, Lara K Abramowitz, Marisa S Bartolomei
Imprinted genes are expressed from one parental allele and regulated by differential DNA methylation at imprinting control regions (ICR). ICRs are reprogrammed in the germline through erasure and reestablishment of DNA methylation. Although much is known about DNA methylation establishment, DNA demethylation is less well understood. Recently, the Ten-Eleven Translocation proteins (TET1-3) have been shown to initiate DNA demethylation, with Tet1 -/- mice exhibiting aberrant levels of imprinted gene expression and ICR methylation...
March 12, 2018: Development
Xin-Na Ji, Cui-Juan Xu, Zhi-Jie Gao, Shu-Hua Chen, Ke-Ming Xu, Qian Chen
OBJECTIVE: To investigate the clinical features, diagnosis and treatment of glucose transporter 1 deficiency syndrome (GLUT1-DS), as well as the diagnostic value of movement disorders. METHODS: The clinical data of four children with GLUT1-DS were collected, and their clinical features, treatment, and follow-up results were analyzed. RESULTS: There were two boys and two girls, with an age of onset of 2-15 months. Clinical manifestations included movement disorders, seizures, and developmental retardation...
March 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Selena Tinga, Stanley E Kim, Scott A Banks, Stephen C Jones, Brian H Park, Antonio Pozzi, Daniel D Lewis
BACKGROUND: Cranial cruciate ligament (CrCL) insufficiency is a degenerative condition that is a common cause of pelvic limb lameness and osteoarthritis in dogs. Surgical therapies developed to treat dogs with naturally occurring CrCL insufficiency aim to address the resultant instability, but the in-vivo alterations in stifle kinematics associated with CrCL insufficiency have not been accurately defined. The objective of this study was to quantify the 3-dimensional femorotibial joint kinematics of dogs with naturally occurring cranial cruciate ligament (CrCL) insufficiency during ambulation...
March 12, 2018: BMC Veterinary Research
Rachel M Burke, Paulina A Rebolledo, Anna M Aceituno, Rita Revollo, Volga Iñiguez, Mitchel Klein, Carolyn Drews-Botsch, Juan S Leon, Parminder S Suchdev
BACKGROUND: Iron deficiency (ID) is the most common micronutrient deficiency worldwide, with potentially severe consequences on child neurodevelopment. Though exclusive breastfeeding (EBF) is recommended for 6 months, breast milk has low iron content. This study aimed to estimate the effect of the length of EBF on iron status at 6 - 8 months of age among a cohort of Bolivian infants. METHODS: Mother-infant pairs were recruited from 2 hospitals in El Alto, Bolivia, and followed from one through 6 - 8 months of age...
March 12, 2018: BMC Pediatrics
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