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https://www.readbyqxmd.com/read/29150892/expanding-the-neurodevelopmental-phenotype-of-pura-syndrome
#1
Bo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, Emily Tuttle, Brynn Lape, Kelly Q Minks, Christopher Stodgell, Loisa Bennetto, Jennifer Kwon, Chin-To Fong, Karen W Gripp, Eric D Marsh, Wendy E Smith, Ahm M Huq, Stephanie A Coury, Wen-Hann Tan, Orestes Solis, Rupal I Mehta, Richard J Leventer, Diana Baralle, David Hunt, Alex R Paciorkowski
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals with heterozygous sequence variations in PURA. A neuromotor disorder starting with neonatal hyptonia, but ultimately allowing delayed progression to walking, was present in nearly all individuals. Congenital apnea was present in 56% during infancy, but all cases in this cohort resolved during the first year of life...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29150770/population-in-vitro-in-vivo-pharmacokinetic-model-of-first-pass-metabolism-itraconazole-and-hydroxy-itraconazole
#2
Ahmad Y Abuhelwa, Stuart Mudge, Richard N Upton, David J R Foster
The aim of this study was to develop a population in vitro-in vivo pharmacokinetic model that simultaneously describe the absorption and accumulation kinetics of itraconazole (ICZ) and hydroxy-itraconazole (HICZ) in healthy subjects. The model integrated meta-models of gastrointestinal pH and gastrointestinal transit time and in vitro dissolution models of ICZ with the absorption and disposition kinetics of ICZ and HICZ. Mean concentration intravenous data, and single- and multi-dose oral data were used for model development...
November 17, 2017: Journal of Pharmacokinetics and Pharmacodynamics
https://www.readbyqxmd.com/read/29150418/immune-enhancing-formulas-for-patients-with-cancer-undergoing-esophagectomy-systematic-review-protocol
#3
Astrid Naranjo, Elizabeth Isenring, Laisa Teleni
BACKGROUND: Adult patients with an esophageal cancer can potentially be compromised with postoperative leaks or fistulae if patients' nutritional status is in a vulnerable stage. Currently in Australia, there is a growing need for clinicians to know whether use of immune-enhancing formulas (IEFs) containing Arg, omega-3, and RNA are a cost-effective approach compared with isonitrogenous-isocaloric formulas to reduce postoperative infectious complications in esophagectomy patients. Since IEFs may carry higher costs, this has led to inconsistencies in practice among clinicians and hospitals...
November 17, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/29150304/are-the-estrogenic-hormonal-effects-of-environmental-toxins-affecting-small-intestinal-bacterial-and-microfilaria-overgrowth
#4
Edward Lichten
The important role of microfilaria (worms) in human and animal disease remains an area of key disagreement between the naturopathic and allopathic physicians. While microfilaria infections are rampart in undeveloped countries, they rarely rise to identification as a cause of disease in Western countries. New research studies in the diagnosis and treatment of SIBO (Small Intestinal Bacterial Overgrowth) and (IBD) Inflammatory Bowel Diseases of ulcerative colitis, Crohn's Disease and microcytic colitis may make both sides equally correct...
November 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/29149929/gastrointestinal-and-hepatic-disease-in-rheumatoid-arthritis
#5
REVIEW
Ethan Craig, Laura C Cappelli
Gastrointestinal (GI) manifestations of rheumatoid arthritis (RA) are rare, but can be impactful for patients. Some GI processes are directly related to RA, whereas others may be sequelae of treatment or caused by concomitant autoimmune diseases. This article discusses the role of the GI tract in RA pathogenesis; the presentation, epidemiology, and diagnosis of RA-related GI manifestations; concomitant GI autoimmune diseases that may affect those with RA; and GI side effects of RA treatment. The importance of appropriately considering conditions unrelated to RA in the differential diagnosis when evaluating new GI symptoms in patients with RA is noted...
February 2018: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/29149927/gastrointestinal-involvement-in-beh%C3%A3-et-disease
#6
REVIEW
Ibrahim Hatemi, Gulen Hatemi, Aykut Ferhat Çelik
Behçet disease (BD) is a variable vessel vasculitis that can involve several organs and systems. Gastrointestinal (GI) involvement has an acute exacerbating course with ulcers, most commonly in the ileocolonic area. These ulcers can be large and deep, causing perforation and massive bleeding. This article highlights the current knowledge on the epidemiology, clinical findings, diagnosis, and management of GI involvement of BD, with emphasis on recent findings.
February 2018: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/29149926/drug-induced-gastrointestinal-and-hepatic-disease-associated-with-biologics-and-nonbiologic-disease-modifying-antirheumatic-drugs
#7
REVIEW
Patrick R Wood, Liron Caplan
A variety of gastrointestinal adverse drug reactions are seen in nearly all conventional antirheumatic medications, ranging from nausea to life-threatening drug-induced liver injury. Rheumatologists should be particularly familiar with hepatotoxicity associated with long-term methotrexate use, and the range of unique hepatic, biliary, and pancreatic manifestations associated with azathioprine. Hepatitis B virus reactivation is the most serious gastrointestinal disease risk associated with many biological therapies, particularly rituximab...
February 2018: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/29149925/gastrointestinal-and-hepatic-disease-in-systemic-lupus-erythematosus
#8
REVIEW
Brian N Brewer, Diane L Kamen
Gastrointestinal (GI) symptoms are common among patients with systemic lupus erythematosus (SLE), although only rarely are they caused by active organ system involvement from SLE itself. Rapid diagnosis and appropriate treatment of lupus enteritis and other GI manifestations of SLE are critical, because of the potential for organ and life-threatening complications. The 3 main variants of lupus enteritis are lupus mesenteric vasculitis, intestinal pseudo-obstruction, and protein-losing enteropathy. These GI manifestations and others in patients with SLE are reviewed here...
February 2018: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/29149924/gastrointestinal-and-hepatic-disease-in-spondyloarthritis
#9
REVIEW
Liron Caplan, Kristine A Kuhn
The association of inflammatory arthritis with intestinal pathology extends back more than 100 years. This association is now supported by epidemiologic studies demonstrating an elevated prevalence of inflammatory bowel disease in spondyloarthritis and vice versa, compared with the general population. Genetic and intestinal microbiome studies have further linked these diseases. Although diabetes and nonalcoholic fatty liver disease disproportionately affect individuals with psoriatic arthritis, diseases of the esophagus, stomach, pancreas, and liver are not particularly common in spondyloarthritis...
February 2018: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/29149923/gastrointestinal-and-hepatic-disease-in-systemic-sclerosis
#10
REVIEW
Tracy M Frech, Diane Mar
Although classification criteria for systemic sclerosis (SSc) do not incorporate gastrointestinal tract (GIT) manifestations often present in this disease, the GIT is the most common internal organ involved. Pathophysiology of GIT involvement is thought to be similar to other organs in SSc with fibroproliferative vascular lesions of small arteries and arterioles, increased production of profibrotic growth factors, and alterations of innate, humoral, and cellular immunity. These processes result in neuropathy progressing to myopathy with eventual fibrosis...
February 2018: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/29149922/gastrointestinal-and-hepatic-disease-in-sjogren-syndrome
#11
REVIEW
Yevgeniy Popov, Karen Salomon-Escoto
Sjogren syndrome (SS) is a lymphocyte-mediated, infiltrative autoimmune disorder characterized by destruction of exocrine glands leading to secretory dysfunction. The typical manifestations include xerostomia and xerophthalmia; however, extensive gastrointestinal involvement is increasingly being recognized, emphasizing the variable and systemic nature of SS.
February 2018: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/29149921/gastrointestinal-and-hepatic-disease-in-fibromyalgia
#12
REVIEW
Richard A Schatz, Baharak Moshiree
Fibromyalgia (FM) has historically been associated with several diseases in gastroenterology and hepatology. The most substantiated evidence pertains to irritable bowel syndrome (IBS). The pathogeneses of FM and IBS remain unclear, but it is likely related to dysregulation within the brain-gut axis, resulting in a hyperalgesic state. IBS and FM share other similarities, including a female predominance, fatigue, insomnia, and susceptibility to psychiatric state. These common manifestations and pathogeneses serve as a foundation for overlapping, multidisciplinary treatment modalities...
February 2018: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/29149920/gastrointestinal-and-hepatic-disease-in-the-inflammatory-myopathies
#13
REVIEW
Chiranjeevi Gadiparthi, Amneet Hans, Kyle Potts, Mohammad K Ismail
Although muscle weakness is the pathognomonic feature of idiopathic inflammatory myopathies, systemic organ involvement is not uncommon. The gastrointestinal and hepatic manifestations are well known. Oropharyngeal dysphagia is the most common gastrointestinal symptom and can be severe. Gastric and small intestinal motility disorders, including chronic intestinal pseudo-obstruction, celiac disease, and inflammatory bowel disease have been described. Comprehensive cancer screening is warranted soon after the diagnosis of inflammatory myopathies due to high risk of occult malignancies...
February 2018: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/29149919/gastrointestinal-and-hepatic-disease-in-vasculitis
#14
REVIEW
Eric Anderson, Neel Gakhar, Courtney Stull, Liron Caplan
Vasculitis is an inflammatory condition that targets the blood vessels, which may occur in isolation or as a component of a systemic inflammatory condition. Although many of the vasculitides can directly affect the organs of the gastrointestinal system, some types exhibit a proclivity for certain gastrointestinal and hepatic organs. Often a patient presents with nonspecific symptoms, delaying the diagnosis and treatment of the underlying vasculitis. Vasculitis can also present with severe manifestations, such as upper gastrointestinal bleeds and bowel perforation...
February 2018: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/29149908/exosomal-micrornas-as-potential-circulating-biomarkers-in-gastrointestinal-tract-cancers-a-systematic-review-protocol
#15
Elmira Gheytanchi, Zahra Madjd, Leila Janani, Arezoo Rasti, Roya Ghods, Fatemeh Atyabi, Mohammad Hossein Asadi Lari, Sadegh Babashah
BACKGROUND: Metastasis is the most frequent type of recurrence in gastrointestinal (GI) cancers, and there is an emerging potential for new diagnostic and therapeutic approaches, especially in the cases of metastatic GI carcinomas. The expression profiles of circulating exosomal microRNAs are of particular interest as novel non-invasive diagnostic and prognostic biomarkers for improved detection of GI cancers in body fluids, especially in the serum of patients with recurrent cancers. The aim of this study is to systematically review primary studies and identify the miRNA profiles of serum exosomes of GI cancers...
November 17, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/29149904/concomitant-sequential-and-7-day-triple-therapy-in-first-line-treatment-of-helicobacter-pylori-infection-in-korea-study-protocol-for-a-randomized-controlled-trial
#16
Hyuk Lee, Beom Jin Kim, Sang Gyun Kim, Jin Il Kim, Il Ju Choi, Yong Chan Lee, Jae G Kim, Jae J Kim
BACKGROUND: Most international guidelines recommend triple-therapy regimens consisting of a proton pump inhibitor, clarithromycin, and amoxicillin/metronidazole for at least 7 days for the eradication of Helicobacter pylori. However, the efficacy of 7-day clarithromycin-based standard triple therapy for H. pylori infection is currently unacceptable in Korea. In this study, we will compare the efficacy and safety of 7-day standard triple therapy, 10-day sequential therapy, and 10-day concomitant therapy for the first-line treatment of H...
November 17, 2017: Trials
https://www.readbyqxmd.com/read/29149900/immunogenic-potential-of-a-salmonella-typhimurium-live-vaccine-for-pigs-against-monophasic-salmonella-typhimurium-dt-193
#17
Tobias Theuß, Elke Ueberham, Jörg Lehmann, Thomas Lindner, Sven Springer
BACKGROUND: Monophasic Salmonella Typhimurium (mSTM) strains account for up to 8.6% of all human Salmonellosis cases. They have an increasing prevalence during recent years and several human cases with hospitalisation were reported. These strains are often isolated from pigs and pork - one primary source of human infection. A Salmonella Typhimurium (STM) live vaccine has been proven successful in controlling of STM infections in pigs for many years. The aim of this study was to test the immunogenicity of the vaccine in weaners during oral challenge with a virulent mSTM strain and to examine the kinetics of STM-specific IgA, IgM and IgG antibodies induced by vaccination and infection...
November 17, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/29149731/purinergic-drug-targets-for-gastrointestinal-disorders
#18
REVIEW
Geoffrey Burnstock, Kenneth A Jacobson, Fievos L Christofi
Purinergic receptors are implicated in the pathogenesis of gastrointestinal disorders and are being explored as potential therapeutic targets. Gut inflammation releases ATP that acts on neuronal, glial, epithelial and immune cells. Purinergic signalling in glia and neurons is implicated in enteric neuropathies. Inflammation activates glia to increase ATP release and alter purinergic signalling. ATP release causes neuron death and gut motor dysfunction in colitis via a P2X7-dependent neural-glial pathway and a glial purinergic-connexin-43 pathway...
November 14, 2017: Current Opinion in Pharmacology
https://www.readbyqxmd.com/read/29149266/association-between-prior-antibiotic-therapy-and-subsequent-risk-of-community-acquired-infections-a-systematic-review
#19
Umer Malik, David Armstrong, Mark Ashworth, Alex Dregan, Veline L'Esperance, Lucy McDonnell, Mariam Molokhia, Patrick White
Background: Antibiotic use can have negative unintended consequences including disruption of the human microbiota, which is thought to protect against pathogen overgrowth. We conducted a systematic review to assess whether there is an association between exposure to antibiotics and subsequent risk of community-acquired infections. Methods: We searched MEDLINE, EMBASE and Web of Science for studies published before 30 June 2017, examining the association between antibiotic use and subsequent community-acquired infection...
November 14, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/29149216/correction-saccharomyces-boulardii-cncm-i-745-supplementation-reduces-gastrointestinal-dysfunction-in-an-animal-model-of-ibs
#20
Paola Brun, Melania Scarpa, Chiara Marchiori, Gloria Sarasin, Valentina Caputi, Andrea Porzionato, Maria Cecilia Giron, Giorgio Palù, Ignazio Castagliuolo
[This corrects the article DOI: 10.1371/journal.pone.0181863.].
2017: PloS One
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