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Wolframe syndrome

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https://www.readbyqxmd.com/read/28432734/monogenic-diabetes-syndromes-locus-specific-databases-for-alstr%C3%A3-m-wolfram-and-thiamine-responsive-megaloblastic-anaemia
#1
Dewi Astuti, Ataf Sabir, Piers Fulton, Malgorzata Zatyka, Denise Williams, Carol Hardy, Gabriella Milan, Francesca Favaretto, Patrick Yu-Wai-Man, Julia Rohayem, Miguel López de Heredia, Tamara Hershey, Lisbeth Tranebjaerg, Jian-Hua Chen, Annabel Chaussenot, Virginia Nunes, Bess Marshall, Susan McAfferty, Vallo Tillmann, Pietro Maffei, Veronique Paquis-Flucklinger, Tarekign Geberhiwot, Wojciech Mlynarski, Kay Parkinson, Virginie Picard, Gema Esteban Bueno, Renuka Dias, Amy Arnold, Caitlin Richens, Richard Paisey, Fumi Urano, Robert Semple, Richard Sinnott, Timothy G Barrett
We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (n = 268), and SLC19A2 (n = 48) for Wolfram type 1, Wolfram type 2, Alström and Thiamine-responsive megaloblastic anaemia syndromes respectively; and included 23 previously unpublished novel germline variants in WFS1 and 17 variants in ALMS1...
April 21, 2017: Human Mutation
https://www.readbyqxmd.com/read/28335888/second-and-third-generation-drugs-for-immuno-oncology-treatment-the-more-the-better
#2
REVIEW
Wolfram C M Dempke, Klaus Fenchel, Peter Uciechowski, Stephen P Dale
Recent success in cancer immunotherapy (anti-CTLA-4, anti-PD1/PD-L1) has confirmed the hypothesis that the immune system can control many cancers across various histologies, in some cases producing durable responses in a way not seen with many small-molecule drugs. However, only less than 25% of all patients do respond to immuno-oncology drugs and several resistance mechanisms have been identified (e.g. T-cell exhaustion, overexpression of caspase-8 and β-catenin, PD-1/PD-L1 gene amplification, MHC-I/II mutations)...
March 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28335035/a-novel-cisd2-mutation-associated-with-a-classical-wolfram-syndrome-phenotype-alters-ca2-homeostasis-and-er-mitochondria-interactions
#3
Cécile Rouzier, David Moore, Cécile Delorme, Sandra Lacas-Gervais, Samira Ait-El-Mkadem, Konstantina Fragaki, Florence Burté, Valérie Serre, Sylvie Bannwarth, Annabelle Chaussenot, Martin Catala, Patrick Yu-Wai-Man, Véronique Paquis-Flucklinger
Wolfram syndrome (WS) is progressive neurodegenerative disease characterized by early-onset optic atrophy and diabetes mellitus, which can be associated with more extensive central nervous system and endocrine complications. The majority of patients harbour pathogenic WFS1 mutations, but recessive mutations in a second gene, CISD2, have been described in a small number of families with Wolfram syndrome type 2 (WFS2). The defining diagnostic criteria for WFS2 also consist of optic atrophy and diabetes mellitus, but unlike WFS1, this phenotypic subgroup has been associated with peptic ulcer disease and an increased bleeding tendency...
March 6, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28296986/stevens-johnson-syndrome-and-toxic-epidermal-necrolysis-standard-reporting-and-evaluation-guidelines-results-of-a-national-institutes-of-health-working-group
#4
Emanual Maverakis, Elizabeth A Wang, Kanade Shinkai, Surakameth Mahasirimongkol, David J Margolis, Mark Avigan, Wen-Hung Chung, Jennifer Goldman, Lois La Grenade, Munir Pirmohamed, Neil H Shear, Wichittra Tassaeeyakul, Wolfram Hoetzenecker, Jettanong Klaewsongkram, Ticha Rerkpattanapipat, Wiparat Manuyakorn, Sally Usdin Yasuda, Victoria R Sharon, Andrea Sukhov, Robert Micheletti, Jeff Struewing, Lars E French, Michelle Y Cheng
Importance: Toxic epidermal necrolysis (TEN) and Stevens-Johnson Syndrome (SJS) are rare, acute, life-threatening dermatologic disorders involving the skin and mucous membranes. Research into these conditions is hampered by a lack of standardization of case reporting and data collection. Objective: To establish a standardized case report form to facilitate comparisons and maintain data quality based on an international panel of SJS/TEN experts who performed a Delphi consensus-building exercise...
March 15, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28271591/a-novel-heterozygous-mutation-of-the-wfs1-gene-leading-to-constitutive-endoplasmic-reticulum-stress-is-the-cause-of-wolfram-syndrome
#5
Shuntaro Morikawa, Toshihiro Tajima, Akie Nakamura, Katsura Ishizu, Tadashi Ariga
BACKGROUND: Wolfram syndrome (WS) is a disorder characterized by the association of insulin-dependent diabetes mellitus (DM), diabetes insipidus, deafness, and optic nerve atrophy. WS is caused by WFS1 mutations encoding WFS1 protein expressed in endoplasmic reticulum (ER). During ER protein synthesis, misfolded and unfolded proteins accumulate, known as "ER stress". This is attenuated by the unfolded protein response (UPR), which recovers and maintains ER functions. Because WFS1 is a UPR component, mutant WFS1 might cause unresolvable ER stress conditions and cell apoptosis, the major causes underlying WS symptoms...
March 8, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28263850/laser-capture-micro-dissection-combined-with-next-generation-sequencing-analysis-of-cell-type-specific-deafness-gene-expression-in-the-mouse-cochlea
#6
Shin-Ya Nishio, Yutaka Takumi, Shin-Ichi Usami
Cochlear implantation (CI), which directly stimulates the cochlear nerves, is the most effective and widely used medical intervention for patients with severe to profound sensorineural hearing loss. The etiology of the hearing loss is speculated to have a major influence of CI outcomes, particularly in cases resulting from mutations in genes preferentially expressed in the spiral ganglion region. To elucidate precise gene expression levels in each part of the cochlea, we performed laser-capture micro dissection in combination with next-generation sequencing analysis and determined the expression levels of all known deafness-associated genes in the organ of Corti, spiral ganglion, lateral wall, and spiral limbs...
May 2017: Hearing Research
https://www.readbyqxmd.com/read/28208663/endoplasmic-reticulum-er-stress-and-endocrine-disorders
#7
REVIEW
Daisuke Ariyasu, Hiderou Yoshida, Yukihiro Hasegawa
The endoplasmic reticulum (ER) is the organelle where secretory and membrane proteins are synthesized and folded. Unfolded proteins that are retained within the ER can cause ER stress. Eukaryotic cells have a defense system called the "unfolded protein response" (UPR), which protects cells from ER stress. Cells undergo apoptosis when ER stress exceeds the capacity of the UPR, which has been revealed to cause human diseases. Although neurodegenerative diseases are well-known ER stress-related diseases, it has been discovered that endocrine diseases are also related to ER stress...
February 11, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28138115/mania-in-wolfram-s-disease-from-bedside-to-bench
#8
Seshadri Sekhar Chatterjee, Sayantanava Mitra, Salil Kumar Pal
Wolfram syndrome is a relatively unexplored entity in clinical psychiatry. Historically, the discovery of a specific WFS1 gene had generated huge fanfare regarding specific genetic causations of psychiatric disorders. While the initial enthusiasm has faded now, association of Wolfram syndrome with psychiatric illnesses like schizophrenia, psychosis and suicidal behavior still remain important for understanding biological underpinnings of such disorders. We report a case of Wolfram syndrome presenting with multiple manic episodes, discuss possible genetic underpinnings for the affective symptoms and then discuss certain issues regarding management...
February 28, 2017: Clinical Psychopharmacology and Neuroscience: the Official Scientific Journal of the Korean College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28109263/common-and-uncommon-neurological-manifestations-of-neuroborreliosis-leading-to-hospitalization
#9
Philipp Schwenkenbecher, Refik Pul, Ulrich Wurster, Josef Conzen, Kaweh Pars, Hans Hartmann, Kurt-Wolfram Sühs, Ludwig Sedlacek, Martin Stangel, Corinna Trebst, Thomas Skripuletz
BACKGROUND: Neuroborreliosis represents a relevant infectious disease and can cause a variety of neurological manifestations. Different stages and syndromes are described and atypical symptoms can result in diagnostic delay or misdiagnosis. The aim of this retrospective study was to define the pivotal neurological deficits in patients with neuroborreliosis that were the reason for admission in a hospital. METHODS: We retrospectively evaluated data of patients with neuroborreliosis...
January 21, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28103199/diagnostic-criteria-for-susac-syndrome
#10
Ilka Kleffner, Jan Dörr, Marius Ringelstein, Catharina C Gross, Yvonne Böckenfeld, Wolfram Schwindt, Benedikt Sundermann, Hubertus Lohmann, Heike Wersching, Julia Promesberger, Natascha von Königsmarck, Anne Alex, Rainer Guthoff, Catharina J M Frijns, L Jaap Kappelle, Sven Jarius, Brigitte Wildemann, Orhan Aktas, Friedemann Paul, Heinz Wiendl, Thomas Duning
BACKGROUND: Susac syndrome is characterised by the triad of encephalopathy with or without focal neurological signs, branch retinal artery occlusions and hearing loss. Establishment of the diagnosis is often delayed because the triad is complete only in a minority of patients at disease onset. This leads to a critical delay in the initiation of appropriate treatment. Our objective was to establish criteria for diagnosis of either definite or probable Susac syndrome. METHOD: The establishment of diagnostic criteria was based on the following three steps: (1) Definition of a reference group of 32 patients with an unambiguous diagnosis of Susac syndrome as assessed by all interdisciplinary experts of the European Susac Consortium (EuSaC) team (EuSaC cohort); (2) selection of diagnostic criteria, based on common clinical and paraclinical findings in the EuSaC cohort and on a review of the literature; and (3) validation of the proposed criteria in the previously published cohort of all Susac cases reported until 2012...
December 2016: Journal of Neurology, Neurosurgery, and Psychiatry
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
#11
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
#12
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...
January 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/27997917/cerebrospinal-fluid-findings-in-neurological-diseases-associated-with-sj%C3%A3-gren-s-syndrome
#13
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
#14
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
#15
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
#16
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
#17
RANDOMIZED CONTROLLED TRIAL
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
#18
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
#19
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
#20
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
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