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Wolframe syndrome

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
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
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 (, 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
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
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
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
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
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
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
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
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...
July 13, 2016: Acta Diabetologica
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
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
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
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
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
Guy M Lenk, Krystyna Szymanska, Grazyna Debska-Vielhaber, Malgorzata Rydzanicz, Anna Walczak, Monika Bekiesinska-Figatowska, Stefan Vielhaber, Kerstin Hallmann, Piotr Stawinski, Sonja Buehring, David A Hsu, Wolfram S Kunz, Miriam H Meisler, Rafal Ploski
In the PI(3,5)P2 biosynthetic complex, the lipid kinase PIKFYVE and the phosphatase FIG4 are bound to the dimeric scaffold protein VAC14, which is composed of multiple heat-repeat domains. Mutations of FIG4 result in the inherited disorders Charcot-Marie-Tooth disease type 4J, Yunis-Varón syndrome, and polymicrogyria with seizures. We here describe inherited variants of VAC14 in two unrelated children with sudden onset of a progressive neurological disorder and regression of developmental milestones. Both children developed impaired movement with dystonia, became nonambulatory and nonverbal, and exhibited striatal abnormalities on MRI...
July 7, 2016: American Journal of Human Genetics
Nataliya Di Donato, Alma Kuechler, Samantha Vergano, Wolfram Heinritz, Joann Bodurtha, Sabiha R Merchant, Galen Breningstall, Roger Ladda, Susan Sell, Janine Altmüller, Nina Bögershausen, Andrew E Timms, Karl Hackmann, Evelin Schrock, Sarah Collins, Carissa Olds, Andreas Rump, William B Dobyns
Baraitser-Winter cerebrofrontofacial syndrome is caused by heterozygous missense mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1. Recently, we characterized the large cohort of 41 patients presenting with this condition. Our series contained 34 patients with mutations in ACTB and only nine with ACTG1 mutations. Here, we report on seven unrelated patients with six mutations in ACTG1-four novel and two previously reported. Only one of seven patients was clinically diagnosed with this disorder and underwent ACTB/ACTG1 targeted sequencing, four patients were screened as a part of the large lissencephaly cohort and two were tested with exome sequencing...
October 2016: American Journal of Medical Genetics. Part A
Nasrollah Maleki, Bahman Bashardoust, Anahita Zakeri, Azita Salehifar, Zahra Tavosi
PURPOSE: To report a case of Wolfram syndrome (WS) characterized by diabetes mellitus, diabetes insipidus, progressive optic atrophy, and deafness. CASE REPORT: A 19-year-old female patient, a known case of diabetes mellitus type I from six years before, presented with progressive vision loss since four years earlier. On fundoscopic examination, she had bilateral optic atrophy without diabetic retinopathy. The patient also had diabetes insipidus, neurosensory deafness, and neurogenic bladder...
September 2015: Journal of Current Ophthalmology
Vincenzo Musolino, Sandra Palus, Anika Tschirner, Cathleen Drescher, Micaela Gliozzi, Cristina Carresi, Cristiana Vitale, Carolina Muscoli, Wolfram Doehner, Stephan von Haehling, Stefan D Anker, Vincenzo Mollace, Jochen Springer
BACKGROUND: Cachexia is a complex metabolic syndrome associated with cancer. One of the features of cachexia is the loss of muscle mass, characterized by an imbalance between protein synthesis and protein degradation. Muscle atrophy is caused by the hyperactivation of some of the main cellular catabolic pathways, including autophagy. Cachexia also affects the cardiac muscle. As a consequence of the atrophy of the heart, cardiac function is impaired and mortality is increased. Anti-cachectic therapy in patients with cancer cachexia is so far limited to nutritional support and anabolic steroids...
December 2016: Journal of Cachexia, Sarcopenia and Muscle
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