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Wolframe syndrome

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https://www.readbyqxmd.com/read/28078206/infectious-atopic-and-inflammatory-diseases-childhood-adversities-and-familial-aggregation-are-independently-associated-with-the-risk-for-mental-disorders-results-from-a-large-swiss-epidemiological-study
#1
Vladeta Ajdacic-Gross, Aleksandra Aleksandrowicz, Stephanie Rodgers, Margot Mutsch, Anja Tesic, Mario Müller, Wolfram Kawohl, Wulf Rössler, Erich Seifritz, Enrique Castelao, Marie-Pierre F Strippoli, Caroline Vandeleur, Roland von Känel, Rosa Paolicelli, Markus A Landolt, Cornelia Witthauer, Roselind Lieb, Martin Preisig
AIM: To examine the associations between mental disorders and infectious, atopic, inflammatory diseases while adjusting for other risk factors. METHODS: We used data from PsyCoLaus, a large Swiss Population Cohort Study (n = 3720; age range 35-66). Lifetime diagnoses of mental disorders were grouped into the following categories: Neurodevelopmental, anxiety (early and late onset), mood and substance disorders. They were regressed on infectious, atopic and other inflammatory diseases adjusting for sex, educational level, familial aggregation, childhood adversities and traumatic experiences in childhood...
December 22, 2016: World Journal of Psychiatry
https://www.readbyqxmd.com/read/28028070/ticagrelor-but-not-clopidogrel-reduces-arterial-thrombosis-via-endothelial-tissue-factor-suppression
#2
Martin F Reiner, Alexander Akhmedov, Simona Stivala, Stephan Keller, Daniel S Gaul, Nicole R Bonetti, Gianluigi Savarese, Martina Glanzmann, Cuicui Zhu, Wolfram Ruf, Zhihong Yang, Christian M Matter, Thomas F Lüscher, Giovanni G Camici, Juerg H Beer
AIMS: The P2Y12 antagonist ticagrelor reduces mortality in patients with acute coronary syndrome (ACS), compared with clopidogrel, and the mechanisms underlying this effect are not clearly understood. Arterial thrombosis is the key event in ACS; however, direct vascular effects of either ticagrelor or clopidogrel with focus on arterial thrombosis and its key trigger tissue factor have not been previously investigated. METHODS AND RESULTS: Human aortic endothelial cells were treated with ticagrelor or clopidogrel active metabolite (CAM) and stimulated with tumour necrosis factor-alpha (TNF-α); effects on procoagulant tissue factor (TF) expression and activity, its counter-player TF pathway inhibitor (TFPI) and the underlying mechanisms were determined...
November 15, 2016: Cardiovascular Research
https://www.readbyqxmd.com/read/27997917/cerebrospinal-fluid-findings-in-neurological-diseases-associated-with-sj%C3%A3-gren-s-syndrome
#3
Kaweh Pars, Refik Pul, Philipp Schwenkenbecher, Kurt-Wolfram Sühs, Ulrich Wurster, Torsten Witte, Paul Bronzlik, Martin Stangel, Thomas Skripuletz
BACKGROUND: Sjögren's syndrome is a chronic autoimmune-mediated disease that can cause a variety of neurological manifestations. METHODS: This study investigated characteristics of clinical and cerebrospinal fluid (CSF) features in patients with neurological diseases associated with Sjögren's syndrome. Eighty-two patients were examined separately according to the presence of Sjögren's syndrome alone or in combination with other autoimmune diseases. RESULTS: In the 47 patients with primary Sjögren's syndrome, peripheral neuropathy (57%) was found most frequently, followed by the involvement of the central nervous system (CNS; 17%), cranial neuropathy (15%), and myalgia (11%)...
2017: European Neurology
https://www.readbyqxmd.com/read/27971704/a-cost-of-illness-study-evaluating-the-burden-of-wolfram-syndrome-in-the-united-kingdom
#4
S Eljamel, S De Stone, W Ghosh, A Griffiths, T G Barrett, R S Thompson
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27746994/impact-of-intercostal-paravertebral-neurectomy-on-post-thoracotomy-pain-syndrome-after-thoracotomy-in-lung-cancer-patients-a-randomized-controlled-trial
#5
Aris Koryllos, Astrid Althaus, Marcel Poels, Robin Joppich, Rolf Lefering, Frank Wappler, Wolfram Windisch, Corinna Ludwig, Erich Stoelben
BACKGROUND: Thoracotomy leads to chronic neuropathic pain in up to 50% of patients and is responsible for an impaired quality of life. Intercostal nerve injury has been suggested to be responsible for this pain. In the present study the impact of paravertebral intercostal neurectomy on post thoracotomy pain was assessed. METHODS: In this single center parallel-group randomized controlled trial patients underwent muscle sparing anterolateral thoracotomy and anatomical lung resection for lung cancer...
September 2016: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/27727666/all-that-is-insulin-dependent-is-not-type-1-a-case-of-wolfram-s-syndrome
#6
Jitu V Thomas, Rajeev Philip, C S Kesavan, Shalu Mariam, Abdul Khader
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27706045/disease-activity-and-conversion-into-multiple-sclerosis-after-optic-neuritis-is-treated-with-erythropoietin
#7
Kurt-Wolfram Sühs, Panagiotis Papanagiotou, Katharina Hein, Refik Pul, Kerstin Scholz, Christoph Heesen, Ricarda Diem
Changes in cerebral lesion load by magnetic resonance imaging (MRI) in patients from a double-blind, placebo-controlled, phase II study on erythropoietin in clinically isolated optic neuritis (ClinicalTrials.gov, NCT00355095) were analyzed. Therefore, patients with acute optic neuritis were assigned to receive either 33,000 IU of recombinant human erythropoietin (IV) daily for three days, or a placebo, as an add-on to methylprednisolone. Of 35 patients, we investigated changes in cerebral lesion load in MRIs obtained at baseline and at weeks 4, 8, and 16...
September 30, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27666717/-research-progress-of-mutational-spectrum-and-pathophysiology-of-wfs1-gene-in-wolfram-syndrome-and-nonsyndromic-low-frequency-sensorineural-hearing-loss
#8
S M Shi, Y H Han, H B Wang
Compound homozygous or heterozygous mutations in WFS1 can lead to autosomal recessive Wolfram syndrome (WS), and heterozygous mutations in WFS1 can lead to autosomal dominant non-syndromic low frequency sensorineural hearing loss (LFSNHL). In addition, mutations in the WFS region has relationship with diabetes and psychiatric diseases. In this paper, we provide an overview of genetic research with different phenotypes, including WS and LFSNHL.
September 7, 2016: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/27635946/tubulocystic-carcinoma-of-the-kidney-with-poorly-differentiated-foci-a-frequent-morphologic-pattern-of-fumarate-hydratase-deficient-renal-cell-carcinoma
#9
Steven C Smith, Kiril Trpkov, Ying-Bei Chen, Rohit Mehra, Deepika Sirohi, Chisato Ohe, Andi K Cani, Daniel H Hovelson, Kei Omata, Jonathan B McHugh, Wolfram Jochum, Maurizio Colecchia, Mitual Amin, Mukul K Divatia, Ondřej Hes, Santosh Menon, Isabela Werneck da Cunha, Sergio Tripodi, Fadi Brimo, Anthony J Gill, Adeboye O Osunkoya, Cristina Magi-Galluzzi, Mathilde Sibony, Sean R Williamson, Gabriella Nesi, Maria M Picken, Fiona Maclean, Abbas Agaimy, Liang Cheng, Jonathan I Epstein, Victor E Reuter, Satish K Tickoo, Scott A Tomlins, Mahul B Amin
An emerging group of high-grade renal cell carcinomas (RCCs), particularly carcinomas arising in the hereditary leiomyomatosis renal cell carcinoma syndrome (HLRCC), show fumarate hydratase (FH) gene mutation and loss of function. On the basis of similar cytomorphology and clinicopathologic features between these tumors and cases described as tubulocystic carcinomas with poorly differentiated foci (TC-PD) of infiltrative adenocarcinoma, we hypothesized a relationship between these entities. First, 29 RCCs with morphology of TC-PD were identified retrospectively and assessed for FH expression and aberrant succination (2SC) by immunohistochemistry (IHC), with targeted next-generation sequencing of 409 genes-including FH-performed on a subset...
November 2016: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27617222/identification-of-a-novel-wfs1-homozygous-nonsense-mutation-in-jordanian-children-with-wolfram-syndrome
#10
Khaldon Bodoor, Osama Batiha, Ayman Abu-Awad, Khaldon Al-Sarihin, Haya Ziad, Yousef Jarun, Aya Abu-Sheikha, Sara Abu Jalboush, Khoulod S Alibrahim
Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disorder characterized by the presentation of early onset type I diabetes mellitus and optic atrophy with later onset diabetes insipidus and deafness. WFS1 gene was identified on chromosome 4p16.1 as the gene responsible for WS disease given that most of the WS patients were found to carry mutations in this gene. This study was carried out to investigate the molecular spectrum of WFS1 gene in Jordanian families. Molecular and clinical characterization was performed on five WS patients from two unrelated Jordanian families...
September 2016: Meta Gene
https://www.readbyqxmd.com/read/27515847/intrathecal-synthesis-of-anti-hu-antibodies-distinguishes-patients-with-paraneoplastic-peripheral-neuropathy-and-encephalitis
#11
Philipp Schwenkenbecher, Lisa Priya Chacko, Ulrich Wurster, Kaweh Pars, Refik Pul, Kurt-Wolfram Sühs, Martin Stangel, Thomas Skripuletz
BACKGROUND: Paraneoplastic syndromes are serious immune caused diseases of the peripheral and/or central nervous system associated with malignant neoplasm. Symptoms develop when antibodies against antigens expressed by tumor cells cross-react with neuronal proteins. Antineuronal antibodies are usually examined in patient's sera while examination of the cerebrospinal fluid (CSF) often fails. Furthermore, the few previous reports describing CSF data summarized different antineuronal antibodies and/or regarded patients with different neurological symptoms as one group...
August 11, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27468121/clinical-and-molecular-genetic-analysis-in-three-children-with-wolfram-syndrome-a-novel-wfs1-mutation-c-2534t-a
#12
Gamze Çelmeli, Doğa Türkkahraman, Yusuf Çürek, Jayne Houghton, Sema Akçurin, İffet Bircan
Wolfram syndrome (WS) is an autosomal recessive disorder caused by mutations in WFS1 gene. The main clinical features include diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA) and deafness (D) with other variable clinical manifestations. The aim of this paper is to present three cases of WS from three unrelated Turkish families with their clinical and genetic characteristics. The first two cases developed all symptoms of the disease in the first decade. Heterozygous father of the case two was symptomatic with bilateral deafness...
July 27, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27459537/glp-1-ra-corrects-mitochondrial-labile-iron-accumulation-and-improves-%C3%AE-cell-function-in-type-2-wolfram-syndrome
#13
Liron Danielpur, Yang-Sung Sohn, Ola Karmi, Chen Fogel, Adar Zinger, Abdulsalam Abu-Libdeh, Tal Israeli, Yael Riahi, Orit Pappo, Ruth Birk, David H Zangen, Ron Mittler, Zvi-Ioav Cabantchik, Erol Cerasi, Rachel Nechushtai, Gil Leibowitz
CONTEXT: Type 2 Wolfram syndrome (T2-WFS) is a neuronal and β-cell degenerative disorder caused by mutations in the CISD2 gene. The mechanisms underlying β-cell dysfunction in T2-WFS are not known, and treatments that effectively improve diabetes in this context are lacking. OBJECTIVE: Unraveling the mechanisms of β-cell dysfunction in T2-WFS and the effects of treatment with GLP-1 receptor agonist (GLP-1-RA). DESIGN AND SETTING: A case report and in vitro mechanistic studies...
October 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27434582/role-of-mitochondrial-dynamics-in-neuronal-development-mechanism-for-wolfram-syndrome
#14
Michal Cagalinec, Mailis Liiv, Zuzana Hodurova, Miriam Ann Hickey, Annika Vaarmann, Merle Mandel, Akbar Zeb, Vinay Choubey, Malle Kuum, Dzhamilja Safiulina, Eero Vasar, Vladimir Veksler, Allen Kaasik
Deficiency of the protein Wolfram syndrome 1 (WFS1) is associated with multiple neurological and psychiatric abnormalities similar to those observed in pathologies showing alterations in mitochondrial dynamics. The aim of this study was to examine the hypothesis that WFS1 deficiency affects neuronal function via mitochondrial abnormalities. We show that down-regulation of WFS1 in neurons leads to dramatic changes in mitochondrial dynamics (inhibited mitochondrial fusion, altered mitochondrial trafficking, and augmented mitophagy), delaying neuronal development...
July 2016: PLoS Biology
https://www.readbyqxmd.com/read/27412528/identification-of-four-novel-mutations-of-the-wfs1-gene-in-iranian-wolfram-syndrome-pedigrees
#15
Martha Ghahraman, Mohammad Reza Abbaszadegan, Rahim Vakili, Sousan Hosseini, Fatemeh Fardi Golyan, Nosrat Ghaemi, Mohammad Mahdi Forghanifard
AIMS: Wolfram syndrome is a rare neurodegenerative disorder with an autosomal recessive pattern of inheritance characterized by various clinical manifestations. The related gene, WFS1, encodes a transmembrane glycoprotein, named wolframin. Genetic analyses demonstrated that mutations in this gene are associated with WS type 1. Our aim in this study was to sequence WFS1 coding region in Iranian Wolfram syndrome pedigrees. METHODS: Genomic DNA was extracted from peripheral blood of 12 WS patients and their healthy parents...
December 2016: Acta Diabetologica
https://www.readbyqxmd.com/read/27395765/wfs1-in-optic-neuropathies-mutation-findings-in-nonsyndromic-optic-atrophy-and-assessment-of-clinical-severity
#16
Joanna Grenier, Isabelle Meunier, Vincent Daien, Corinne Baudoin, François Halloy, Béatrice Bocquet, Catherine Blanchet, Cécile Delettre, Etienne Esmenjaud, Agathe Roubertie, Guy Lenaers, Christian P Hamel
PURPOSE: To search for WFS1 mutations in patients with optic atrophy (OA) and assess visual impairment. DESIGN: Retrospective molecular genetic and clinical study. PARTICIPANTS: Patients with OA followed at a national referral center specialized in genetic sensory diseases. METHODS: Mutation screening in WFS1 was performed by Sanger sequencing. WFS1-positive patients were evaluated on visual acuity (VA) and retinal nerve fiber layer (RNFL) thickness using time-domain (TD) or spectral-domain (SD) optical coherence tomography (OCT)...
September 2016: Ophthalmology
https://www.readbyqxmd.com/read/27379531/fatal-pulmonary-embolism-due-to-inherited-thrombophilia-factors-in-a-child-with-wolfram-syndrome
#17
Kazim Küçüktaşçi, Serap Semiz, Yasemin Işik Balci, Tamer Özsari, Dolunay Gürses, Gökhan Önem, Mustafa Saçar, Füsun Düzcan, Doğangün Yüksel, Ender Semiz
Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus (DM), optic atrophy, diabetes insipidus, and deafness. Poorly controlled type 1 DM increases the risk for thrombosis. However, coexistence of DM and hereditary thrombosis factors is rarely observed. Here we present the case of a 13.5-year-old, nonfollowed girl newly diagnosed with poorly controlled Wolfram syndrome on the basis of the results of clinical and laboratory examinations. On the eighth day after diabetic ketoacidosis treatment, pulmonary embolism developed in the subject...
October 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27377697/inactivation-of-runx3-p46-promotes-cutaneous-t-cell-lymphoma
#18
Ahmed Haider, Anne Steininger, Reinhard Ullmann, Michael Hummel, Lora Dimitrova, Marc Beyer, Staffan Vandersee, Dido Lenze, Wolfram Sterry, Chalid Assaf, Markus Möbs
The key role of the Runt-related transcription factor 3 (RUNX3) in physiological T-cell differentiation has been extensively documented. However, information on its relevance for the development of human T-cell lymphomas or leukemias is scarce. Here we show that alterations of RUNX3 by either heterozygous deletion or methylation of its distal promoter can be observed in the tumor cells of 15/21 (71%) patients suffering from Sézary syndrome (SS), an aggressive variant of cutaneous T-cell lymphoma. In consequence, mRNA levels of RUNX3/p46, the isoform controlled by the distal promoter, are significantly lower in SS tumor cells...
July 1, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27341211/expression-pattern-of-wolframin-the-wfs1-wolfram-syndrome-1-gene-product-in-common-marmoset-callithrix-jacchus-cochlea
#19
Noriomi Suzuki, Makoto Hosoya, Naoki Oishi, Hideyuki Okano, Masato Fujioka, Kaoru Ogawa
Wolfram syndrome is an autosomal recessive disorder of the neuroendocrine system, known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness) syndrome, and considered an endoplasmic reticulum disease. Patients show mutations in WFS1, which encodes the 890 amino acid protein wolframin. Although Wfs1 knockout mice develop diabetes, their hearing level is completely normal. In this study, we examined the expression of wolframin in the cochlea of a nonhuman primate common marmoset (Callithrix jacchus) to elucidate the discrepancy in the phenotype between species and the pathophysiology of Wolfram syndrome-associated deafness...
August 3, 2016: Neuroreport
https://www.readbyqxmd.com/read/27294147/s%C3%A3-zary-syndrome-and-atopic-dermatitis-comparison-of-immunological-aspects-and-targets
#20
REVIEW
Ieva Saulite, Wolfram Hoetzenecker, Stephan Weidinger, Antonio Cozzio, Emmanuella Guenova, Ulrike Wehkamp
Sézary syndrome (SS), an aggressive form of erythrodermic pruritic cutaneous T cell lymphoma (CTCL), from an immunological perspective characterized by increased Th2 cytokine levels, elevated serum IgE and impaired cellular immunity. Not only the clinical appearance but also the hallmark immunological characteristics of SS often share striking similarities with acute flares of atopic dermatitis (AD), a common benign chronic inflammatory skin disease. Given the overlap of several immunological features, the application of similar or even identical therapeutic approaches in certain stages of both diseases may come into consideration...
2016: BioMed Research International
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