keyword
MENU ▼
Read by QxMD icon Read
search

Wolframe syndrome

keyword
https://www.readbyqxmd.com/read/29666474/the-cisd-gene-family-regulates-physiological-germline-apoptosis-through-ced-13-and-the-canonical-cell-death-pathway-in-caenorhabditis-elegans
#1
Skylar D King, Chipo F Gray, Luhua Song, Rachel Nechushtai, Tina L Gumienny, Ron Mittler, Pamela A Padilla
Programmed cell death, which occurs through a conserved core molecular pathway, is important for fundamental developmental and homeostatic processes. The human iron-sulfur binding protein NAF-1/CISD2 binds to Bcl-2 and its disruption in cells leads to an increase in apoptosis. Other members of the CDGSH iron sulfur domain (CISD) family include mitoNEET/CISD1 and Miner2/CISD3. In humans, mutations in CISD2 result in Wolfram syndrome 2, a disease in which the patients display juvenile diabetes, neuropsychiatric disorders and defective platelet aggregation...
April 17, 2018: Cell Death and Differentiation
https://www.readbyqxmd.com/read/29657975/visual-pathway-function-and-structure-in-wolfram-syndrome-patient-age-variation-and-progression
#2
James Hoekel, Anagha Narayanan, Jerrel Rutlin, Heather Lugar, Amal Al-Lozi, Tamara Hershey, Lawrence Tychsen
Background/aims: To report alterations in visual acuity and visual pathway structure over an interval of 1-3 years in a cohort of children, adolescents and young adults who have Wolfram syndrome (WFS) and to describe the range of disease severity evident in patients with WFS whose ages differed by as much as 20 years at first examination. Methods: Annual, prospective ophthalmological examinations were performed in conjunction with retinal nerve fibre layer (RNFL) analysis...
2018: BMJ Open Ophthalmology
https://www.readbyqxmd.com/read/29642989/cardiogenic-causes-of-fever
#3
Jan Smid, Maximilian Scherner, Oliver Wolfram, Thomas Groscheck, Jens Wippermann, Rüdiger C Braun-Dullaeus
BACKGROUND: Persistent fever of unknown cause is only rarely of cardiac origin, but heart disease must be considered in the differential diagnosis. Aside from endocarditis, pericarditis and various other conditions may be responsible. METHODS: This review is based on pertinent articles retrieved by a selective search in PubMed and Google Scholar employing the term "fever" in combination with "myocardial infarction," "pericarditis," "endocarditis," and "postcardiac injury," with additional consideration of current cardiological guidelines...
March 23, 2018: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/29574456/modeling-short-qt-syndrome-using-human-induced-pluripotent-stem-cell-derived-cardiomyocytes
#4
Ibrahim El-Battrawy, Huan Lan, Lukas Cyganek, Zhihan Zhao, Xin Li, Fanis Buljubasic, Siegfried Lang, Gökhan Yücel, Katherine Sattler, Wolfram-Hubertus Zimmermann, Jochen Utikal, Thomas Wieland, Ursula Ravens, Martin Borggrefe, Xiao-Bo Zhou, Ibrahim Akin
BACKGROUND: Short QT syndrome (SQTS), a disorder associated with characteristic ECG QT-segment abbreviation, predisposes affected patients to sudden cardiac death. Despite some progress in assessing the organ-level pathophysiology and genetic changes of the disorder, the understanding of the human cellular phenotype and discovering of an optimal therapy has lagged because of a lack of appropriate human cellular models of the disorder. The objective of this study was to establish a cellular model of SQTS using human-induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs)...
March 24, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29563951/genetic-testing-for-wolfram-syndrome-mutations-in-a-sample-of-71-patients-with-hereditary-optic-neuropathy-and-negative-genetic-test-results-for-opa1-opa3-lhon
#5
Alberto Galvez-Ruiz, Alicia Galindo-Ferreiro, Patrik Schatz
In this study, the authors present a sample of 71 patients with hereditary optic neuropathy and negative genetic test results for OPA1/OPA3/LHON. All of these patients later underwent genetic testing to rule out WFS. As a result, 53 patients (74.7%) were negative and 18 patients (25.3%) were positive for some type of mutation or variation in the WFS gene. The authors believe that this study is interesting because it shows that a sizeable percentage (25.3%) of patients with hereditary optic 25 neuropathy and negative genetic test results for OPA1/OPA3/LHON had WFS mutations or variants...
April 2018: Neuro-ophthalmology
https://www.readbyqxmd.com/read/29549887/a-novel-mutation-of-wfs1-gene-in-a-chinese-patient-with-wolfram-syndrome-a-case-report
#6
Min Li, Jia Liu, Huan Yi, Li Xu, Xiufeng Zhong, Fuhua Peng
BACKGROUND: Wolfram syndrome (WS), caused by mutations of the Wolfram syndrome 1 (WFS1) gene on chromosome 4p16.1, is an autosomal recessive disorder characterized by diabetes insipidus (DI), neuro-psychiatric disorders, hearing deficit, and urinary tract anomalies. CASE PRESENTATION: Here we report a 11-year-old Chinese boy who presented with visual loss, was suspected with optic neuritis (ON) or neuromyelitis optica (NMO) and referred to our department for further diagnosis...
March 17, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29543914/immunoadsorption-to-remove-%C3%A3-2-adrenergic-receptor-antibodies-in-chronic-fatigue-syndrome-cfs-me
#7
Carmen Scheibenbogen, Madlen Loebel, Helma Freitag, Anne Krueger, Sandra Bauer, Michaela Antelmann, Wolfram Doehner, Nadja Scherbakov, Harald Heidecke, Petra Reinke, Hans-Dieter Volk, Patricia Grabowski
INTRODUCTION: Infection-triggered disease onset, chronic immune activation and autonomic dysregulation in Chronic Fatigue Syndrome/Myalgic Encephalomyelitis (CFS/ME) point to an autoimmune disease directed against neurotransmitter receptors. We had observed elevated autoantibodies against ß2 adrenergic receptors, and muscarinic 3 and 4 acetylcholine receptors in a subset of patients. Immunoadsorption (IA) was shown to be effective in removing autoantibodies and improve outcome in various autoimmune diseases...
2018: PloS One
https://www.readbyqxmd.com/read/29529044/wfs1-mutation-screening-in-a-large-series-of-japanese-hearing-loss-patients-massively-parallel-dna-sequencing-based-analysis
#8
Masafumi Kobayashi, Maiko Miyagawa, Shin-Ya Nishio, Hideaki Moteki, Taro Fujikawa, Kenji Ohyama, Hirofumi Sakaguchi, Ikuyo Miyanohara, Akiko Sugaya, Yasushi Naito, Shin-Ya Morita, Yukihiko Kanda, Masahiro Takahashi, Kotaro Ishikawa, Yuki Nagano, Tetsuya Tono, Chie Oshikawa, Chiharu Kihara, Haruo Takahashi, Yoshihiro Noguchi, Shin-Ichi Usami
A heterozygous mutation in the Wolfram syndrome type 1 gene (WFS1) causes autosomal dominant nonsyndromic hereditary hearing loss, DFNA6/14/38, or Wolfram-like syndrome. To date, more than 40 different mutations have been reported to be responsible for DFNA6/14/38. In the present study, WFS1 variants were screened in a large series of Japanese hearing loss (HL) patients to clarify the prevalence and clinical characteristics of DFNA6/14/38 and Wolfram-like syndrome. Massively parallel DNA sequencing of 68 target genes was performed in 2,549 unrelated Japanese HL patients to identify genomic variations responsible for HL...
2018: PloS One
https://www.readbyqxmd.com/read/29511163/wolfram-syndrome-mams-connection
#9
REVIEW
Benjamin Delprat, Tangui Maurice, Cécile Delettre
Wolfram syndrome (WS) is a rare neurodegenerative disease, the main pathological hallmarks of which associate with diabetes, optic atrophy, and deafness. Other symptoms may be identified in some but not all patients. Prognosis is poor, with death occurring around 35 years of age. To date, no treatment is available. WS was first described as a mitochondriopathy. However, the localization of the protein on the endoplasmic reticulum (ER) membrane challenged this hypothesis. ER contacts mitochondria to ensure effective Ca2+ transfer, lipids transfer, and apoptosis within stabilized and functionalized microdomains, termed "mitochondria-associated ER membranes" (MAMs)...
March 6, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29498147/subtypes-of-depression-and-their-overlap-in-a-naturalistic-inpatient-sample-of-major-depressive-disorder
#10
Richard Musil, Florian Seemüller, Sebastian Meyer, Ilja Spellmann, Mazda Adli, Michael Bauer, Klaus-Thomas Kronmüller, Peter Brieger, Gerd Laux, Wolfram Bender, Isabella Heuser, Robert Fisher, Wolfgang Gaebel, Rebecca Schennach, Hans-Jürgen Möller, Michael Riedel
Subtyping depression is important in order to further delineate biological causes of depressive syndromes. The aim of this study was to evaluate clinical and outcome characteristics of distinct subtypes of depression and to assess proportion and features of patients fulfilling criteria for more than one subtype. Melancholic, atypical and anxious subtypes of depression were assessed in a naturalistic sample of 833 inpatients using DSM-IV specifiers based on operationalized criteria. Baseline characteristics and outcome criteria at discharge were compared between distinct subtypes and their overlap...
March 2018: International Journal of Methods in Psychiatric Research
https://www.readbyqxmd.com/read/29490390/-hereditary-optic-neuropathies
#11
Klaus Rüther
Hereditary optic nerve disorders are rare. For ophthalmologists, Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA) are of particular relevance. LHON and ADOA are diseases of the retinal ganglion cells and are caused by mitchochondrial dysfunction. LHON is based on mutations of the mitochondrial, ADOA of the nuclear DNA. LHON is a disease that usually leads to severe visual impairment (visual acuity < 0.1). Since there is an approved therapy for LHON (Idebenone [Raxone]), the diagnosis has to be confirmed immediately by means of molecular genetic diagnostics...
February 28, 2018: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/29483894/clinical-characteristics-of-wolfram-syndrome-in-chinese-population-and-a-novel-frameshift-mutation-in-wfs1
#12
Lian Duan, Qian Li, An-Li Tong, Jiang-Feng Mao, Miao Yu, Tao Yuan, Xiao-Feng Chai, Feng Gu
Objective: Wolfram syndrome (WS) is a rare, degenerative, and hereditary disorder characterized by ear diabetes mellitus (DM) and optic atrophy (OA). We aim to characterize clinical features in Chinese patients who had been poorly studied until now. Methods: We performed a retrospective review of patients with WS seen in the Peking Union Medical College Hospital from 2002 to 2017. Data including demographic data, clinical presentations, examination results, family history, and genetic analysis were described...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29407091/estradiol-protection-against-toxic-effects-of-catecholamine-on-electrical-properties-in-human-induced-pluripotent-stem-cell-derived-cardiomyocytes
#13
Ibrahim El-Battrawy, Zhihan Zhao, Huan Lan, Jan-Dierk Schünemann, Katherine Sattler, Fanis Buljubasic, Bence Patocskai, Xin Li, Gökhan Yücel, Siegfried Lang, Daniel Nowak, Lukas Cyganek, Karen Bieback, Jochen Utikal, Wolfram-Hubertus Zimmermann, Ursula Ravens, Thomas Wieland, Martin Borggrefe, Xiao-Bo Zhou, Ibrahim Akin
BACKGROUND AND PURPOSE: Previous studies revealed that Takotsubo cardiomyopathy (TTC), a transient disorder of ventricular dysfunction affecting predominantly postmenopausal women, is associated with acquired long QT syndrome and arrhythmias, but the exact pathophysiologic mechanism is unknown. Our aim is to investigate the electrophysiological mechanism for QT-prolongation in TTC-patients by using human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs). METHODS: hiPSC-CMs, which were generated from human skin fibroblasts of three healthy donors, were treated by estradiol (10μM for one week) and a toxic concentration of isoprenaline (Iso, 1mM for 2h)...
March 1, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29406269/hippocampus-and-hypothalamus-rna-sequencing-of-wfs1-deficient-mice
#14
Marilin Ivask, Sander Pajusalu, Ene Reimann, Sulev Kõks
Wolfram syndrome is caused by mutations in the WFS1 gene. WFS1 protein dysfunction results in a range of neuroendocrine syndromes and is mostly characterized by juvenile-onset diabetes mellitus and optic atrophy. WFS1 has been shown to participate in membrane trafficking, protein processing and Ca2+ homeostasis in the endoplasmic reticulum. Aim of the present study was to find the transcriptomic changes influenced by WFS1 in the hypothalamus and hippocampus using RNA-sequencing. The WFS1-deficient mice were used as a model system to analyze the changes in transcriptional networks...
February 3, 2018: Neuroscience
https://www.readbyqxmd.com/read/29389815/comorbidities-of-chronic-heart-failure-a-systemic-syndrome-requiring-cross-specialty-efforts
#15
Wolfram Doehner
No abstract text is available yet for this article.
March 2018: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/29361080/deletion-size-analysis-of-1680-22q11-2ds-subjects-identifies-a-new-recombination-hotspot-on-chromosome-22q11-2
#16
Tingwei Guo, Alexander Diacou, Hiroko Nomaru, Donna M McDonald-McGinn, Matthew Hestand, Wolfram Demaerel, Liangtian Zhang, Yingjie Zhao, Francisco Ujueta, Jidong Shan, Cristina Montagna, Deyou Zheng, Terrence B Crowley, Leila Kushan-Wells, Carrie E Bearden, Wendy R Kates, Doron Gothelf, Maude Schneider, Stephan Eliez, Jeroen Breckpot, Ann Swillen, Jacob Vorstman, Elaine Zackai, Felipe Benavides Gonzalez, Gabriela M Repetto, Beverly S Emanuel, Anne S Bassett, Joris R Vermeesch, Christian R Marshall, Bernice E Morrow
Recurrent, de novo, meiotic non-allelic homologous recombination events between low copy repeats, termed LCR22s, leads to the 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome/DiGeorge syndrome). Although most 22q11.2DS patients have a similar sized 3 million base pair (Mb), LCR22A-D deletion, some have nested LCR22A-B or LCR22A-C deletions. Our goal is to identify additional recurrent 22q11.2 deletions associated with 22q11.2DS, serving as recombination hotspots for meiotic chromosomal rearrangements...
April 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29357349/knockdown-of-wfs1-a-fly-homolog-of-wolfram-syndrome-1-in-the-nervous-system-increases-susceptibility-to-age-and-stress-induced-neuronal-dysfunction-and-degeneration-in-drosophila
#17
Yasufumi Sakakibara, Michiko Sekiya, Naoki Fujisaki, Xiuming Quan, Koichi M Iijima
Wolfram syndrome (WS), caused by loss-of-function mutations in the Wolfram syndrome 1 gene (WFS1), is characterized by juvenile-onset diabetes mellitus, bilateral optic atrophy, and a wide spectrum of neurological and psychiatric manifestations. WFS1 encodes an endoplasmic reticulum (ER)-resident transmembrane protein, and mutations in this gene lead to pancreatic β-cell death induced by high levels of ER stress. However, the mechanisms underlying neurodegeneration caused by WFS1 deficiency remain elusive...
January 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29309300/reappraisal-of-morphologic-differences-between-renal-medullary-carcinoma-collecting-duct-carcinoma-and-fumarate-hydratase-deficient-renal-cell-carcinoma
#18
Chisato Ohe, Steven C Smith, Deepika Sirohi, Mukul Divatia, Mariza de Peralta-Venturina, Gladell P Paner, Abbas Agaimy, Mitual B Amin, Pedram Argani, Ying-Bei Chen, Liang Cheng, Maurizio Colecchia, Eva Compérat, Isabela Werneck da Cunha, Jonathan I Epstein, Anthony J Gill, Ondřej Hes, Michelle S Hirsch, Wolfram Jochum, Lakshmi P Kunju, Fiona Maclean, Cristina Magi-Galluzzi, Jesse K McKenney, Rohit Mehra, Gabriella Nesi, Adeboye O Osunkoya, Maria M Picken, Priya Rao, Victor E Reuter, Paulo Guilherme de Oliveira Salles, Luciana Schultz, Satish K Tickoo, Scott A Tomlins, Kiril Trpkov, Mahul B Amin
Renal medullary carcinomas (RMCs) and collecting duct carcinomas (CDCs) are rare subsets of lethal high-stage, high-grade distal nephron-related adenocarcinomas with a predilection for the renal medullary region. Recent findings have established an emerging group of fumarate hydratase (FH)-deficient tumors related to hereditary leiomyomatosis and renal cell carcinoma (HLRCC-RCCs) syndrome within this morphologic spectrum. Recently developed, reliable ancillary testing has enabled consistent separation between these tumor types...
March 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29280256/heart-and-brain-interaction-in-patients-with-heart-failure-overview-and-proposal-for-a-taxonomy-a-position-paper-from-the-study-group-on-heart-and-brain-interaction-of-the-heart-failure-association
#19
REVIEW
Wolfram Doehner, Dilek Ural, Karl Georg Haeusler, Jelena Čelutkienė, Reinaldo Bestetti, Yuksel Cavusoglu, Marco A Peña-Duque, Duska Glavas, Massimo Iacoviello, Ulrich Laufs, Ricardo Marmol Alvear, Amam Mbakwem, Massimo F Piepoli, Stuart D Rosen, Georgios Tsivgoulis, Cristiana Vitale, M Birhan Yilmaz, Stefan D Anker, Gerasimos Filippatos, Petar Seferovic, Andrew J S Coats, Frank Ruschitzka
Heart failure (HF) is a complex clinical syndrome with multiple interactions between the failing myocardium and cerebral (dys-)functions. Bi-directional feedback interactions between the heart and the brain are inherent in the pathophysiology of HF: (i) the impaired cardiac function affects cerebral structure and functional capacity, and (ii) neuronal signals impact on the cardiovascular continuum. These interactions contribute to the symptomatic presentation of HF patients and affect many co-morbidities of HF...
February 2018: European Journal of Heart Failure
https://www.readbyqxmd.com/read/29277467/bladder-dysfunction-in-wolfram-syndrome-is-highly-prevalent-and-progresses-to-megacystis
#20
Ruth Wragg, Renuka P Dias, Timothy Barrett, Liam McCarthy
AIM: Wolfram syndrome is a rare genetic defect in WFS1 or WSF2(CISD2). It includes diabetes mellitus and insipidis, sensorineural deafness, optic atrophy, but not bladder dysfunction. However, this has appeared a common finding in our national referral clinic, and we sought to quantify this problem. METHODS: Data were collected from a multidisciplinary team managing all Wolfram patients in the UK. The following was analyzed: age, date of non-invasive urodynamics (NIU), symptoms, bladder capacity, voided volume, post-void residual and uroflow pattern...
February 2018: Journal of Pediatric Surgery
keyword
keyword
9688
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"