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https://www.readbyqxmd.com/read/29331020/human-phenotypes-caused-by-piezo1-mutations-one-gene-two-overlapping-phenotypes
#1
Silvia Martin-Almedina, Sahar Mansour, Pia Ostergaard
PIEZO1 is a large mechanosensitive ion channel protein. Diseases associated with PIEZO1 include autosomal recessive Generalised Lymphatic Dysplasia of Fotiou (GLDF) and autosomal dominant Dehydrated Hereditary Stomatocytosis with or without pseudohyperkalemia and/or perinatal oedema (DHS). The two disorders show overlapping features, fetal hydrops/perinatal oedema have been reported in both. Electrophysiological studies suggest opposite mechanisms of action, the mutations identified in GLDF patients cause a loss-of-function mechanism of disease and mutations in DHS patients cause gain-of-function...
January 13, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29330587/posterior-reversible-encephalopathy-syndrome-with-spinal-cord-involvement-pres-sci-as-a-rare-complication-of-severe-diabetic-ketoacidosis-a-case-report-and-review-of-the-literature
#2
Jianfei Nao, Han Zhang, Si Wu, Xiaotian Zhang, Dongming Zheng
INTRODUCTION: In addition to diffuse brain oedema, diabetic ketoacidosis (DKA) can lead to ischaemic or haemorrhagic stroke, extrapontine myelinolysis, and sinovenous thrombosis. However, posterior reversible encephalopathy syndrome (PRES) and spinal cord oedema are rarely reported in patients with DKA. METHODS: We present a case of a 17-year-old-girl who developed headache, blurred vision, and paraplegia after her DKA was controlled. Sequential magnetic resonance (MR) scans of the brain and spinal cord were performed...
January 12, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29329564/phytochemical-analysis-antioxidant-and-anti-inflammatory-potential-of-feretia-apodanthera-root-bark-extracts
#3
Oluwayinka Olufunmilayo Owolabi, Dorcas Bolanle James, Ibrahim Sani, Binda T Andongma, Opeoluwa O Fasanya, Barnabas Kure
BACKGROUND: Inflammation has been implicated in many disorders, including cancer and available therapies elicit adverse effects. Plants of the family Rubiaceae have shown potency against inflammation. The anti-inflammatory and anti-oxidant potential of Feretia apodanthera was investigated in this study to evaluate its effectiveness. METHODS: The phytochemical, antioxidant and anti-inflammatory potential of root bark (n-Hexane, diethyl ether, ethanol and aqueous) extracts of Feretia apodanthera was investigated in this study...
January 12, 2018: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/29327369/overweight-and-obesity-may-play-a-role-in-the-pathogenesis-of-chronic-spontaneous-urticaria
#4
M Zbiciak-Nylec, D Wcisło-Dziadecka, M Kasprzyk, A Kulig, J Laszczak, M Noworyta, S Adamus, L Brzezińska-Wcisło, B Rogala, Z Brzoza
BACKGROUND: Chronic spontaneous urticaria (CSU) is one of the commonest diseases in allergological and dermatological practice. It constitutes an interdisciplinary problem, and its pathogenesis is not always easily determined. It has been suggested that metabolic syndrome and hyperlipidaemia are more frequent in patients with CSU, but the influence of overweight and obesity on the development of CSU has not been thoroughly investigated. AIM: To assess the association between body parameters and the development of CSU...
January 12, 2018: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29327283/persea-americana-mill-crude-extract-exhibits-antinociceptive-effect-on-uvb-radiation-induced-skin-injury-in-mice
#5
Viviane C K N Deuschle, Indiara Brusco, Mariana Piana, Henrique Faccin, Leandro Machado de Carvalho, Sara Marchesan Oliveira, Carine Viana
Persea americana, popularly known as avocado, has been empirically used as analgesic and anti-inflammatory including in the skin disorder treatment. Species of the genus Persea also show a photoprotective effect against UVB radiation. We investigated the antinociceptive and anti-inflammatory effects from a topical formulation containing the P. americana leaf extract in a UVB irradiation-induced burn model in mice and performed a gel-formulation stability study. The antinociceptive and anti-inflammatory effect was evaluated through mechanical allodynia, paw oedema, and inflammatory cell infiltration...
January 11, 2018: Inflammopharmacology
https://www.readbyqxmd.com/read/29325550/acute-onset-high-morbidity-primary-photosensitisation-in-sheep-associated-with-consumption-of-the-casbah-and-mauro-cultivars-of-the-pasture-legume-biserrula
#6
Jane C Quinn, Yuchi Chen, Belinda Hackney, Muhammad Shoaib Tufail, Leslie A Weston, Panayiotis Loukopoulos
BACKGROUND: Primary photosensitisation (PS) subsequent to ingestion of the pasture legume Biserrula pelecinus L. (biserrula) has recently been confirmed in grazing livestock. Given the potential utility of this pasture species in challenging climates, a grazing trial was undertaken to examine if both varieties 'Casbah' and 'Mauro' were able to cause photosensitisation in livestock, and if this could be mitigated by grazing in winter, or in combination with other common pasture species...
January 11, 2018: BMC Veterinary Research
https://www.readbyqxmd.com/read/29322653/viruses-associated-with-congenital-tremor-and-high-lethality-in-piglets
#7
F Possatti, S A Headley, R A Leme, A M Dall Agnol, E Zotti, T E S de Oliveira, A F Alfieri, A A Alfieri
The recently described atypical porcine pestivirus (APPV) has been associated with congenital tremor (CT) type A-II in piglets in different countries. Another important neurological pathogen of pigs is porcine teschovirus (PTV), which has been associated with non-suppurative encephalomyelitis in pigs with severe or mild neurological disorders. There have been no reports of APPV and/or PTV coinfection associated with CT or encephalomyelitis in Brazilian pig herds. The aim of this study was to describe the pathological and molecular findings associated with simultaneous infection of APPV and PTV in piglets with clinical manifestations of CT that were derived from a herd with high rates of CT-associated lethality...
January 10, 2018: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/29321992/alterations-of-haemodynamic-parameters-in-spontaneously-hypertensive-rats-by-aristolochia-ringens-vahl-aristolochiaceae
#8
Flora Ruth Aigbe, Abdul Sattar Zubaid Munavvar, Hassan Rathore, Olorunfemi Eseyin, Yen Pei Pei, Safia Akhtar, Ashfaq Chohan, Hui Jin, Jooli Khoo, Samual Tan, Mohammed Lazhari, Sheryar Afzar, Fiaz Ahmed, Olufunmilayo Olaide Adeyemi, Edward Johns
Aristolochia ringens Vahl. (Aristolochiaceae (AR); mǎ dōu líng) is used traditionally in Nigeria for the management of various disorders including oedema. Preliminary investigation revealed its modulatory effect on the cardiovascular system. This study was aimed at investigating the effect of the aqueous root extract of A. ringens (AR) on haemodynamic parameters of spontaneously hypertensive rats (SHRs). The effect of oral subacute (21 days) and intravenous acute exposure of SHRs to the extract were assessed using tail cuff and carotid artery canulation methods respectively...
January 2018: Journal of Traditional and Complementary Medicine
https://www.readbyqxmd.com/read/29321936/low-voltage-electricity-induced-lung-injury
#9
Thai Truong, Thuong Vu Le, David L Smith, Stephen P Kantrow, Van Ngoc Tran
We report a case of bilateral pulmonary infiltrates and haemoptysis following low-voltage electricity exposure in an agricultural worker. A 58-year-old man standing in water reached for an electric watering machine and sustained an exposure to 220 V circuit for an uncertain duration. The electricity was turned off by another worker, and the patient was asymptomatic for the next 10 h until he developed haemoptysis. A chest radiograph demonstrated bilateral infiltrates, and chest computed tomography (CT) revealed ground-glass opacities with interstitial thickening...
February 2018: Respirology Case Reports
https://www.readbyqxmd.com/read/29321930/a-case-of-pulmonary-cyst-and-pneumothorax-after-bronchial-thermoplasty
#10
Akifumi Funatsu, Konomi Kobayashi, Motoyasu Iikura, Satoru Ishii, Shinyu Izumi, Haruhito Sugiyama
Bronchial thermoplasty (BT) is a bronchoscopic treatment for severe asthma using thermal energy to reduce smooth muscle in the bronchial wall. A 47-year-old man underwent BT for uncontrolled severe asthma despite maximal pharmacological treatment. After a third procedure, he experienced hypoxaemia because of complete bilateral upper lobe atelectasis. A pulmonary cyst suddenly emerged in to the right middle lobe, associated with the pneumothorax on postoperative day 6, and a chest drainage tube was inserted...
February 2018: Respirology Case Reports
https://www.readbyqxmd.com/read/29319130/anaplastic-thyroid-carcinoma-with-rapid-thyrotoxicosis-case-report-and-the-review-of-literature
#11
Jacek Daroszewski, Katarzyna Paczkowska, Aleksandra Jawiarczyk-Przybyłowska, Marek Bolanowski, Michał Jeleń
INTRODUCTION: Anaplastic thyroid carcinoma (ATC) is one of the most aggressive human malignancies and constitutes approximately 1.6-5% of malignant neoplasms of thyroid. ATC usually presents with local symptoms due to rapidly enlarging thyroid mass, and has only seldom been reported to be a cause of thyrotoxicosis. Up to date only 9 cases of ATC presented with thyrotoxicosis have been described. CASE REPORT: We report a case of 66-year-old woman, who had had a large, euthyroid multinodular goiter for almost 50 years...
January 10, 2018: Endokrynologia Polska
https://www.readbyqxmd.com/read/29317400/two-year-outcomes-of-intravitreal-ziv-aflibercept
#12
Ahmad M Mansour, Mohammed Ashraf, Abdulrazzak Charbaji, Muhammad H Younis, Ahmed A Souka, Avantika Dogra, Hana A Mansour, Jay Chhablani
AIM: To assess the two-year outcome of intravitreal ziv-aflibercept (IVZ) in eyes with macular diseases. METHODS: Consecutive subjects with various macular diseases that received six or more of 0.05 mL IVZ (1.25 mg) injections with at least 1 year follow-up were included. Outcome measures were best-corrected visual acuity (BCVA) (logarithm of the minimum angle of resolution) and central macular thickness (CMT) on spectral domain optical coherence tomography...
January 9, 2018: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29315699/topical-administration-of-regorafenib-eye-drops-phase-i-dose-escalation-study-in-healthy-volunteers
#13
Torsten Zimmermann, Joachim Höchel, Michael Becka, Michael K Boettger, Beate Rohde, Barbara Schug, Kathleen S Kunert, Frank Donath
AIM: Regorafenib is a multi-kinase inhibitor under investigation for use in neovascular age-related macular degeneration. In this Phase I study, regorafenib eye drops were administered to healthy volunteers to provide information on safety, tolerability and systemic exposure. METHODS: This was a single-centre, randomized, double-masked, parallel-group, dose-escalation, placebo-controlled study. Subjects received regorafenib eye drops (30 mg ml-1 , 25 μL) as a 0...
January 9, 2018: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29315637/rapid-detection-and-differentiation-of-carp-oedema-virus-and-cyprinid-herpes-virus-3-in-koi-and-common-carp
#14
H Soliman, M El-Matbouli
Carp oedema virus (CEV) and koi herpes virus (KHV) are of major concern to common carp breeders and koi enthusiasts worldwide. The viruses cause diseases that exhibit similar external signs; thus, it is difficult to distinguish between them clinically. In this study, we developed and optimized rapid and accurate single- and multiplex isothermal diagnostic tools, based on recombinase polymerase amplification (RPA), for detection and differentiation of CEV and KHV. The assays were combined with a lateral flow dipstick to enable visual detection of amplification products and simplify post-amplification analysis...
January 9, 2018: Journal of Fish Diseases
https://www.readbyqxmd.com/read/29315006/the-role-of-iloprost-on-bone-oedema-and-osteonecrosis-review-of-current-evidence
#15
Ippokratis Pountos, Peter V Giannoudis
Iloprost is a commercially available prostaglandin I2 (PGI2) analogue that is shown to have antithrombotic, vasodilatative and antiproliferative effects. A number of clinical studies have shown that Iloprost can be effective in the management of bone marrow oedema and the treatment of avascular necrosis. The aim of this manuscript is to present our current understanding on the effect of Iloprost on the treatment of these conditions. Areas covered: The authors offer a comprehensive review of the existing literature on the experimental and clinical studies analysing the effect of Iloprost on bone, bone marrow oedema and avascular necrosis...
January 9, 2018: Expert Opinion on Drug Safety
https://www.readbyqxmd.com/read/29311434/suspected-lily-toxicosis-in-a-meerkat-suricata-suricatta-a-case-report
#16
Kiyokazu Ozaki, Masakazu Hirabayashi, Koji Nomura, Isao Narama
Lilies are considered nephrotoxic only to domestic cats, which belong to the family Felidae of the suborder Feliformia. However, a 7-month-old female meerkat, belonging to the family Herpestidae of the suborder Feliformia, presented with oliguria, seizure, tachypnea, self-biting, and nystagmus after it ingested lilies. The meerkat died approximately 40 hr after lily ingestion. Gross and histopathologic lesions consistent with acute renal failure were conspicuous in the animal. The renal lesions were acute tubular necrosis, corresponding to the typical pathological changes of lily toxicosis in cats...
January 4, 2018: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/29310697/epidemiology-genetic-variants-and-clinical-course-of-natural-infections-with-anaplasma-phagocytophilum-in-a-dairy-cattle-herd
#17
Cornelia Silaghi, Marion Nieder, Carola Sauter-Louis, Gabriela Knubben-Schweizer, Kurt Pfister, Martin Pfeffer
BACKGROUND: Anaplasma phagocytophilum is an obligate intracellular, tick-transmitted bacterium that causes granulocytic anaplasmosis in humans and several mammalian species including domestic ruminants where it is called tick-borne fever (TBF). Different genetic variants exist but their impact with regard to putative differences in host associations and pathogenicity are not yet completely understood. METHODS: Natural infections with A. phagocytophilum in a dairy cattle herd in Germany were investigated over one pasture season by using serology, haematology, blood chemistry and polymerase chain reaction (PCR)...
January 8, 2018: Parasites & Vectors
https://www.readbyqxmd.com/read/29306478/fibroblast-growth-factor-23-is-related-to-profiles-indicating-volume-overload-poor-therapy-optimization-and-prognosis-in-patients-with-new-onset-and-worsening-heart-failure
#18
Jozine M Ter Maaten, Adriaan A Voors, Kevin Damman, Peter van der Meer, Stefan D Anker, John G Cleland, Kenneth Dickstein, Gerasimos Filippatos, Pim van der Harst, Hans L Hillege, Chim C Lang, Marco Metra, Gerjan Navis, Leong Ng, Wouter Ouwerkerk, Piotr Ponikowski, Nilesh J Samani, Dirk J van Veldhuisen, Faiez Zannad, Aeilko H Zwinderman, Martin H de Borst
BACKGROUND: Fibroblast growth factor (FGF) 23 is a hormone that increases urinary phosphate excretion and regulates renal sodium reabsorption and plasma volume. We studied the role of plasma FGF23 in therapy optimization and outcomes in patients with new-onset and worsening heart failure (HF). METHODS: We measured plasma C-terminal FGF23 levels at baseline in 2399 of the 2516 patients included in the BIOlogy Study to Tailored Treatment in Chronic HF (BIOSTAT-CHF) trial...
February 15, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29306149/a-case-report-of-intrarenal-epidermoid-cysts-in-a-yellow-bellied-slider-trachemys-scripta-scripta
#19
Simon Stokes, Nicola Di Girolamo, Paolo Selleri, Sara Pagliarani, Chiara Palmieri
A 7-year-old yellow-bellied slider exhibited anorexia, decreased activity, generalised wasting of skeletal muscles and oedema. Haematology examination revealed increased phosphorus and decreased calcium levels. During necropsy performed after spontaneous death, a focal nodular lesion containing tan amorphous material was found in the left kidney. Histopathology examination revealed multiple cystic lesions lined by a multilayered squamous, occasionally cuboidal, and containing keratin. Epithelial cells and keratin material were cytokeratin-positive...
December 27, 2017: Research in Veterinary Science
https://www.readbyqxmd.com/read/29303704/golimumab-in-refractory-uveitis-associated-to-juvenile-idiopathic-arthritis-multicentre-study-of-7-cases-and-literature-review
#20
REVIEW
Natalia Palmou-Fontana, Vanesa Calvo-Río, José Luis Martín-Varillas, Carlos Fernández-Díaz, Marina Mesquida, Alfredo Adán, María Victoria Hernández, Miguel Cordero-Coma, Olga Maiz Alonso, David Díaz-Valle, Carlos Fernández-Cid, Oscar Ruiz-Moreno, José Luis Hernández, Miguel Angel González-Gay, Ricardo Blanco
OBJECTIVES: To assess the efficacy of golimumab (GLM), a fully humanised anti-TNF-α monoclonal antibody, in refractory juvenile idiopathic arthritis (JIA)-associated uveitis. METHODS: This was a multicentre study of JIA-associated uveitis refractory to standard synthetic immunosuppressive drugs and in most cases to other anti-TNF-α agents. Results were expressed as mean±standard deviation or as median (range or interquartile range). The Wilcoxon signed-rank test was used to compare continuous variables...
December 15, 2017: Clinical and Experimental Rheumatology
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