DOCSLIB.ORG

The Epidemiology of Deafness

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
The Epidemiology of Deafness Downloaded from http://perspectivesinmedicine.cshlp.org/ on September 25, 2021 - Published by Cold Spring Harbor Laboratory Press The Epidemiology of Deafness Abraham M. Sheffield1 and Richard J.H. Smith2,3,4,5 1Department of Otolaryngology, Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242 2Molecular Otolaryngology and Renal Research Laboratories (MORL), Department of Otolaryngology, University of Iowa, Iowa City, Iowa 52242 3Department of Molecular Physiology & Biophysics, University of Iowa, Iowa City, Iowa 52242 4Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242 5Department of Internal Medicine, University of Iowa, Iowa City, Iowa 52242 Correspondence: [email protected] Hearing loss is the most common sensory deficit worldwide. It affects ∼5% of the world population, impacts people of all ages, and exacts a significant personal and societal cost. This review presents epidemiological data on hearing loss. We discuss hereditary hearing loss, complex hearing loss with genetic and environmental factors, and hearing loss that is more clearly related to environment. We also discuss the disparity in hearing loss across the world, with more economically developed countries having overall lower rates of hearing loss compared with developing countries, and the opportunity to improve diagnosis, preven- tion, and treatment of this disorder. earing loss is the most common sensory refer to people with mild-to-moderate (and Hdeficit worldwide, affecting more than half sometimes severe) hearing loss, whereas the a billion people (Smith et al. 2005; Wilson et al. term “deaf” (lower case “d”) is more commonly 2017). Normal hearing is defined as having hear- reserved for those with severe or profound hear- ing thresholds of ≤25 dB in both ears. The World ing loss (Smith et al. 2005; also seewho.int/news- Health Organization (WHO) defines hearing room/fact-sheets/detail/deafness-and-hearing- loss as a speech-frequency pure tone average loss). The term “Deafness” (upper case “D”) >25 dB at 0.5, 1, 2, and 4 kHz in the better hear- describes a cultural group united by the use of ing ear (Yamasoba et al. 2013). Disabling hearing sign language for communication. People with loss is defined as hearing loss >40 dB in the better any degree of hearing loss are sometimes de- www.perspectivesinmedicine.org hearing ear in adults and >30 dB in the better scribed as “hearing impaired.” Although this hearing ear in children (see who.int/news- term is intended to be neutral, it may arouse room/fact-sheets/detail/deafness-and-hearing- negative feelings in some, especially among loss). Degrees of hearing loss are classified those in the Deaf community who do not view as mild (26 dB to 40 dB), moderate (41 dB to hearing loss as an impairment (Smith et al. 55 dB), moderately severe (56 dB to 70 dB), se- 2005). vere (71 dB to 90 dB), or profound (≥91 dB) Because of the great heterogeneity that exists, (Koffler et al. 2015). there are many ways to describe and categorize Although there is no clear demarcation, the hearing loss. These include etiology, age of onset, term “hard of hearing” is sometimes used to time of onset in relation to language develop- Editors: Guy P. Richardson and Christine Petit Additional Perspectives on Function and Dysfunction of the Cochlea available at www.perspectivesinmedicine.org Copyright © 2018 Cold Spring Harbor Laboratory Press; all rights reserved Advanced Online Article. Cite this article as Cold Spring Harb Perspect Med doi: 10.1101/cshperspect.a033258 1 Downloaded from http://perspectivesinmedicine.cshlp.org/ on September 25, 2021 - Published by Cold Spring Harbor Laboratory Press A.M. Sheffield and R.J.H. Smith ment, clinical presentation, severity, frequency loss is subdivided into syndromic or nonsyn- loss, number of ears affected, and anatomic de- dromic, based on the presence or absence of fect. In terms of anatomic defects, there are two coinherited anomalies. Syndromic and nonsyn- broad categories: conductive hearing loss (CHL) dromic conditions are further subdivided by in- and sensorineural hearing loss (SNHL). Mixed heritance pattern: autosomal dominant, auto- hearing loss is athird type that is used to describe somal recessive, X-linked, and mitochondrial cases in which both CHL and SNHL are present (Shibata et al. 2015). Complex inheritance, in in the same ear. Etiologically based classification which there are significant contributions from of hearing loss can be broadly divided into ge- both genetic and environmental factors, will netic versus nongenetic. It is important to note also be discussed. Wewill concludewith address- that genetic hearing loss is not synonymous with ing environmental factors. congenital hearing loss. Congenital hearing loss There is significant disparity in rates of hear- simply refers to hearing loss that is present since ing loss between developed nations and devel- birth regardless of etiology. Genetic hearing loss oping nations (see Fig. 1). It should be noted that refers to a genetically inherited etiology, which data on the incidence and causes of hearing loss may be present at birth (i.e., congenital) or de- are most readily available from developed na- velop at any time thereafter (Shibata et al. 2015). tions in which there are newborn hearing screen- This review will discuss the epidemiology of ing programs. The information is not as well hearing loss. We will address genetic, as well as documented for most developing countries. environmental causes of hearing loss. Hearing We attempt to include appropriate international loss of genetic etiology can be subcategorized data where possible, but many of the epidemio- into simple Mendelian inheritance versus com- logical studies come out of the United States and plex inheritance. Mendelian inherited hearing Europe. Prevalence of disabling hearing loss by region 10% 9% 8% 7% 6% www.perspectivesinmedicine.org 5% 4% 3% Prevalence of hearing loss Prevalence 2% 1% 0% High-income Central/Eastern Sub-Saharan Middle East and South AsiaAsia Pacific Latin America and East Asia nations Europe and Central Africa North Africa Caribbean Asia Prevalence of disabling hearing loss (>30 dB) in children (<15 years old) Prevalence of disabling hearing loss (>40 dB) in adults (15+ years old) Figure 1. Prevalence of disabling hearing loss in adults (15 years and older) and children (younger than 15 years). Disabling hearing loss is defined by the World Health Organization (WHO) as thresholds >30 dB for children and >40 dB for adults. (Data based on 2018 WHO Global Estimates on Prevalence of Hearing Loss.) 2 Advanced Online Article. Cite this article as Cold Spring Harb Perspect Med doi: 10.1101/cshperspect.a033258 Downloaded from http://perspectivesinmedicine.cshlp.org/ on September 25, 2021 - Published by Cold Spring Harbor Laboratory Press The Epidemiology of Deafness NONSYNDROMIC GENETIC HEARING LOSS been identified as causally related to ARNSHL OVERVIEW (see hereditaryhearingloss.org). The first causa- Approximately half of hearing loss cases have a tive locus was mapped in 1994 (Guilford et al. genetic etiology (see Fig. 2). Genetic hearing loss 1994). Three years later, the gene at this locus fi accountsforatleast50%–60%ofchildhoodhear- was identi ed as GJB2 (Kelsell et al. 1997). GJB2 ing loss cases in developed countries (Koffler encodes connexin 26, a protein that oligomer- et al. 2015). A simple Mendelian inheritance pat- izes to form a connexon. Connexons in adjacent tern is common for genetic hearing loss. Non- cells dock to form a gap junction, which are syndromic describes hearing loss of genetic eti- critical in the inner ear for recycling potassium ology with no other phenotypic manifestations. and other ions to maintain cochlear homeosta- Nonsyndromic SNHL accounts for ∼70% of sis (Mammano 2018). Mutations in GJB2 are congenital genetic hearing loss. The most com- the most common cause of severe-to-profound mon inheritance pattern of congenital nonsyn- ARNSHL, accounting for up to 50% of people dromic SNHL is autosomal recessive (∼75%– with this degree of congenital hearing loss in 80%). Autosomal dominant SNHL represents many world populations. There is great allelic ∼20%, X-linked <2%, and mitochondrial <1% heterogeneity, with >100 different deafness- fi (Shibata et al. 2015). Nonsyndromic genetic causing mutations identi ed in this single gene. loci for hearing loss are named with the conven- Notably, different mutations in GJB2 predomi- tion of DFNB# (autosomal recessive), DFNA# nate in different populations. For example, the (autosomal dominant), and DFNX# (X-linked). 35delG mutation is most common in Europeans To date, there are 157 genetic loci with 110 iden- and European-Americans and has a carrier fre- ∼ tified genes (see hereditaryhearingloss.org). quency of 2.5% in the Midwestern United States. In comparison, the 167delT mutation has a carrier frequency of ∼4% in the Ashkenazi Autosomal Recessive Nonsyndromic Jewish population and the 235delC mutation is Hearing Loss the most common GJB2 mutation in the Japa- Autosomal recessive nonsyndromic hearing loss nese (Shibata et al. 2015). (ARNSHL) is the most common type of genetic In a recent study using comprehensive ge- hearing loss. It is most often characterized by netic testing by means of targeted genomic en- prelingual onset (before speech development) richment and massively parallel sequencing and is usually severe-to-profound across all fre- (TGE+MPS) to identify the genetic etiology of quencies. According to the Hereditary Hearing hearing loss in
Load more

Recommended publications
  • Endoplasmic Reticulum Stress As Target for Treatment of Hearing Loss
    REVIEW ARTICLE Endoplasmic reticulum stress as target for treatment of hearing loss Yanfei WANG, Zhigang XU* Shandong Provincial Key Laboratory of Animal Cell and Developmental Biology, School of Life Sciences, Shandong University, Qingdao, Shandong 266237, China *Correspondence: [email protected] https://doi.org/10.37175/stemedicine.v1i3.21 ABSTRACT The endoplasmic reticulum (ER) plays pivotal roles in coordinating protein biosynthesis and processing. Under ER stress, when excessive misfolded or unfolded proteins are accumulated in the ER, the unfolded protein response (UPR) is activated. The UPR blocks global protein synthesis while activates chaperone expression, eventually leading to the alleviation of ER stress. However, prolonged UPR induces cell death. ER stress has been associated with various types of diseases. Recently, increasing evidences suggest that ER stress and UPR are also involved in hearing loss. In the present review, we will discuss the role of ER stress in hereditary hearing loss as well as acquired hearing loss. Moreover, we will discuss the emerging ER stress-based treatment of hearing loss. Further investigations are warranted to understand the mechanisms in detail how ER stress contributes to hearing loss, which will help us develop better ER stress-related treatments. Keywords: ER stress · Unfolded protein response (UPR) · Hearing loss · Inner ear · Cochlea 1. Introduction far, which are mediated by ER stress sensors that reside The endoplasmic reticulum (ER) is a highly dynamic on the ER membranes, namely the inositol-requiring organelle in eukaryotic cells, playing important roles in enzyme 1α (IRE1α), the PKR-like ER kinase (PERK), protein synthesis, processing, folding, and transportation, and the activating transcription factor 6α (ATF6α) as well as lipid synthesis and calcium homeostasis.
    [Show full text]
  • Joint Hypermobility Syndromes
    10/17/2017 Hereditary Disorders of Connective Tissue: Overview CLAIR A. FRANCOMANO, M.D. HARVEY INSTITUTE FOR HUMAN GENETICS BALTIMORE, MD Disclosures I have no conflicts to disclose 1 10/17/2017 Joint Hypermobility Seen in over 140 clinical syndromes listed in Online Mendelian Inheritance in Man (OMIM) Congenital anomaly syndromes Short stature syndromes Hereditary disorders of connective tissue Connective Tissue Supports and Protects Bones Collagen Fibers Cartilage Elastic Fibers Tendons Mucopolysaccharides Ligaments 2 10/17/2017 Fibrillar Collagens Major structural components of the extracellular matrix Include collagen types I, II, III, V, IX, and XI Trimeric molecules (three chains) May be made up of three identical or genetically distinct chains, called alpha chains Fibrillar Collagens Biochemical Society Transactions (1999) , - - www.biochemsoctrans.org 3 10/17/2017 Hereditary Disorders of Connective Tissue Marfan syndrome Loeys-Dietz syndrome Stickler syndrome Osteogenesis Imperfecta Ehlers-Danlos syndromes Marfan Syndrome Aneurysmal dilation of the ascending aorta Dislocation of the ocular lenses Tall stature Scoliosis Pectus deformity Arachnodactyly (long, narrow fingers and toes) Dolicostenomelia (tall, thin body habitus) Caused by mutations in Fibrillin-1 4 10/17/2017 Marfan Syndrome Loeys-Dietz Syndrome Aortic dilation with dissection Tortuous blood vessels Craniofacial features Hypertelorism Malar hypoplasia Cleft palate or bifid uvula Caused by mutations in TGFBR1 and TGFBR2 as well as
    [Show full text]
  • Mutations in the WFS1 Gene Are a Frequent Cause of Autosomal Dominant Nonsyndromic Low-Frequency Hearing Loss in Japanese
    J Hum Genet (2007) 52:510–515 DOI 10.1007/s10038-007-0144-3 ORIGINAL ARTICLE Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese Hisakuni Fukuoka Æ Yukihiko Kanda Æ Shuji Ohta Æ Shin-ichi Usami Received: 14 January 2007 / Accepted: 27 March 2007 / Published online: 11 May 2007 Ó The Japan Society of Human Genetics and Springer 2007 Abstract Mutations in WFS1 are reported to be respon- sites are likely to be mutational hot spots. All three families sible for two conditions with distinct phenotypes; DFNA6/ with WFS1 mutations in this study showed a similar phe- 14/38 and autosomal recessive Wolfram syndrome. They notype, LFSNHL, as in previous reports. In this study, one- differ in their associated symptoms and inheritance mode, third (three out of nine) autosomal dominant LFSNHL and although their most common clinical symptom is families had mutations in the WFS1 gene, indicating that in hearing loss, it is of different types. While DNFA6/14/38 is non-syndromic hearing loss WFS1 is restrictively and characterized by low frequency sensorineural hearing loss commonly found within autosomal dominant LFSNHL (LFSNHL), in contrast, Wolfram syndrome is associated families. with various hearing severities ranging from normal to profound hearing loss that is dissimilar to LFSNHL (Pen- Keywords WSF1 Á Low-frequency hearing loss Á nings et al. 2002). To confirm whether within non-syn- DFNA6/14/38 dromic hearing loss patients WFS1 mutations are found restrictively in patients with LFSNHL and to summarize the mutation spectrum of WFS1 found in Japanese, we Introduction screened 206 Japanese autosomal dominant and 64 auto- somal recessive (sporadic) non-syndromic hearing loss WFS1 is a gene encoding an 890 amino-acid glycoprotein probands with various severities of hearing loss.
    [Show full text]
  • Fumihiko Urano: Wolfram Syndrome: Diagnosis, Management, And
    Curr Diab Rep (2016) 16:6 DOI 10.1007/s11892-015-0702-6 OTHER FORMS OF DIABETES (JJ NOLAN, SECTION EDITOR) Wolfram Syndrome: Diagnosis, Management, and Treatment Fumihiko Urano1,2 # The Author(s) 2016. This article is published with open access at Springerlink.com Abstract Wolfram syndrome is a rare genetic disorder char- diabetes insipidus, optic nerve atrophy, hearing loss, and acterized by juvenile-onset diabetes mellitus, diabetes neurodegeneration. It was first reported in 1938 by Wol- insipidus, optic nerve atrophy, hearing loss, and neurodegen- fram and Wagener who found four of eight siblings with eration. Although there are currently no effective treatments juvenile diabetes mellitus and optic nerve atrophy [1]. that can delay or reverse the progression of Wolfram syn- Wolfram syndrome is considered a rare disease and esti- drome, the use of careful clinical monitoring and supportive mated to afflict about 1 in 160,000–770,000 [2, 3]. In care can help relieve the suffering of patients and improve 1995, Barrett, Bundey, and Macleod described detailed their quality of life. The prognosis of this syndrome is current- clinical features of 45 patients with Wolfram syndrome ly poor, and many patients die prematurely with severe neu- and determined the best available diagnostic criteria for rological disabilities, raising the urgency for developing novel the disease [3]. According to the draft International Clas- treatments for Wolfram syndrome. In this article, we describe sification of Diseases (ICD-11), Wolfram Syndrome is natural history and etiology, provide recommendations for categorized as a rare specified diabetes mellitus (subcate- diagnosis and clinical management, and introduce new treat- gory 5A16.1, Wolfram Syndrome).
    [Show full text]
  • The ENT Manifestation of Wolfram Syndrome (DIDMOAD): a Case Report
    Journal of Clinical Science & Translational Medicine MEDWIN PUBLISHERS Committed to Create Value for Researchers The ENT Manifestation of Wolfram Syndrome (DIDMOAD): A Case Report Gliti MA1,3*, Allouche I1,3, Razika B2,3, Anas BM2,3 and Houssyni LE2,3 Case Report 1Department of Otorhinolaryngology, Head and Neck Surgery, Ibn Sina University Hospital, Volume 3 Issue 1 Morocco Received Date: May 15, 2021 2Department of Otorhinolaryngology, Head and Neck Surgery, Ibn Sina University Hospital, Published Date: June 23, 2021 Morocco 3Faculty of Medicine and Pharmacy of Rabat, Mohammed V University, Morocco *Corresponding author: Mohamed Ali Gliti, Department of Otorhinolaryngology, Head and Neck Surgery, Ibn Sina University Hospital, Rabat, Morocco, Tel: 0633725750; Email: [email protected] Abstract Objective: Describe the clinical and therapeutic aspects of WOLFRAM syndrome (DIDMOAD) presenting with deafness. Materials and Methods: We report the case of a 21-year-old man who presented with a WOLFRAM syndrome associated with a tympanic perforation. Clinical Case: This is a 21-year-old R.Y from a consanguineous marriage (first cousin 1st degree) Due to the association syndrome. of symptoms (type 1 diabetes, urinary and ophthalmologic signs), genetic counseling was sought to confirm WOLFRAM Conclusion: vigilant in referring patients with hearing loss for an ophthalmic examination. Since sensorineural hearing loss can be the first symptom of SW, audiologists, and otolaryngologists should be Keywords: WOLFRAM Syndrome; Sensorineural Hearing Loss; Tympanic Perforation; Tympanoplasty Abbreviations: SW: Wolfram Syndrome. feature. For this reason, the same Wolfram syndrome (SW) Introduction (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness)is defined in with the literaturethe term [2-7].Wolfram It is syndromea recessive DIDMOAD inherited disease, the pathogenesis of which is still poorly understood Wagener, a clinical feature characterized by diabetes [8-10].
    [Show full text]
  • Identi Cation of Three Novel Homozygous Variants in COL9A3
    Identication of three novel homozygous variants in COL9A3 causing autosomal-recessive Stickler Syndrome Aboulfazl Rad University of Tübingen: Eberhard Karls Universitat Tubingen Maryam Naja Universitätsklinikum Freiburg: Universitatsklinikum Freiburg Fatemeh Suri Shahid Beheshti University Soheila Abedini Mashhad University of Medical Sciences Stephen Loum Eberhard Karls Universitat Tubingen Ehsan Ghayoor Karimiani Mashhad University of Medical Sciences Narsis Daftarian Shahid Beheshti University David Murphy UCL: University College London Mohammad Doosti Mashhad University of Medical Sciences Afrooz Moghaddasi Shahid Beheshti University Hamid Ahmadieh Shahid Beheshti University Hamideh Sabbaghi Shahid Beheshti University Mohsen Rajati Mashhad University of Medical Sciences Ghaem Hospital Narges Hashemi Mashhad University of Medical Sciences Barbara Vona Eberhard Karls Universitat Tubingen Miriam Schmidts ( [email protected] ) Universitatsklinikum Freiburg https://orcid.org/0000-0002-1714-6749 Research Article Keywords: autosomal recessive Stickler syndrome, COL9A3, collagen, hearing loss, retinal detachment Posted Date: May 17th, 2021 DOI: https://doi.org/10.21203/rs.3.rs-526117/v1 License: This work is licensed under a Creative Commons Attribution 4.0 International License. Read Full License Page 1/10 Abstract Background: Stickler syndrome (STL) is a rare, clinically and molecularly heterogeneous connective tissue disorder. Pathogenic variants occurring in a variety of genes cause STL, mainly inherited in an autosomal
    [Show full text]
  • A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal D
    RESEARCH ARTICLE A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype Paulien A. Terhal,1* Rutger Jan A. J. Nievelstein,2 Eva J. J. Verver,3 Vedat Topsakal,3 Paula van Dommelen,4 Kristien Hoornaert,5 Martine Le Merrer,6 Andreas Zankl,7 Marleen E. H. Simon,8 Sarah F. Smithson,9 Carlo Marcelis,10 Bronwyn Kerr,11 Jill Clayton-Smith,11 Esther Kinning,12 Sahar Mansour,13 Frances Elmslie,13 Linda Goodwin,14 Annemarie H. van der Hout,15 Hermine E. Veenstra-Knol,15 Johanna C. Herkert,15 Allan M. Lund,16 Raoul C. M. Hennekam,17 Andre´ Me´garbane´,18 Melissa M. Lees,19 Louise C. Wilson,19 Alison Male,19 Jane Hurst,19,20 Yasemin Alanay,21 Go¨ran Annere´n,22 Regina C. Betz,23 Ernie M. H. F. Bongers,10 Valerie Cormier-Daire,6 Anne Dieux,24 Albert David,25 Mariet W. Elting,26 Jenneke van den Ende,27 Andrew Green,28 Johanna M. van Hagen,26 Niels Thomas Hertel,29 Muriel Holder-Espinasse,24,30 Nicolette den Hollander,31 Tessa Homfray, Hanne D. Hove,32 Susan Price,20 Annick Raas-Rothschild,33 Marianne Rohrbach,34 Barbara Schroeter,35 Mohnish Suri,36 Elizabeth M. Thompson,37 Edward S. Tobias,38 Annick Toutain,39 Maaike Vreeburg,40 Emma Wakeling,41 Nine V. Knoers,1 Paul Coucke,42,43 and Geert R. Mortier27,43 1Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands 2Department of Radiology, University Medical Centre Utrecht, Utrecht, The Netherlands 3Department of Otorhinolaryngology and Head and Neck Surgery,
    [Show full text]
  • Journalist Soledad O'brien Helps Her Hearing-Impaired Son Advocate for Himself
    FEBRUARY/MARCH 2018 BY ROBERT FIRPO-CAPPIELLO Journalist Soledad O’Brien Helps Her Hearing-Impaired Son Advocate for Himself O'Brien has made a career of tuning in to the stories of those in need. As the mother of a hearing-impaired child, she does the same at home. During her years as a broadcast journalist, Soledad O'Brien has never backed down from challenges or controversy. As the host of Matter of Fact with Soledad O'Brien, a syndicated news show owned by Hearst Television, O'Brien has covered everything from the high rate of suicide among veterans to the hurricane relief and recovery efforts in Puerto Rico. And while she's proud of her mixed heritage—her Australian father is of Irish and Scottish descent and her mother is from Havana, Cuba, of Afro-Cuban descent— she knows what it's like to be different. "Growing up in the only Afro-Cuban family in my town on Long Island may have given me some appreciation for outsiders, for people who look and speak differently," she says. Her skills as a reporter—her tenacity, determination, and compassion—and her experience as an outsider served Soledad O'Brien helps her hearing-impaired son her well when her son Jackson began exhibiting Jackson advocate for himself. COURTESY troubling behavior as a toddler. "When he was about 2, SOLEDAD O'BRIEN he would slam his head against the wall until he had bruises, sometimes cuts. Ordinarily he was a very sweet kid, but then he would have meltdowns unlike any we'd seen.
    [Show full text]
  • Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss Without Syndromic Phenotype
    Hindawi BioMed Research International Volume 2021, Article ID 6624744, 9 pages https://doi.org/10.1155/2021/6624744 Research Article Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype Jinying Li ,1,2 Hongen Xu ,3,4 Jianfeng Sun ,5 Yongan Tian ,6,7 Danhua Liu ,4 Yaping Qin ,4 Huanfei Liu,3 Ruijun Li ,3 Lingling Neng ,1 Xiaohua Deng ,8 Binbin Xue ,1 Changyun Yu ,1 and Wenxue Tang 3,4,7 1Department of Otolaryngology Head and Neck Surgery, The First Affiliated Hospital of Zhengzhou University, Jianshedong Road No. 1, Zhengzhou 450052, China 2Academy of Medical Science, Zhengzhou University, Daxuebei Road No. 40, Zhengzhou 450052, China 3Precision Medicine Center, Academy of Medical Science, Zhengzhou University, Daxuebei Road No. 40, Zhengzhou 450052, China 4The Second Affiliated Hospital of Zhengzhou University, Jingba Road No. 2, Zhengzhou 450014, China 5Department of Bioinformatics, Technical University of Munich, Wissenschaftszentrum Weihenstephan, 85354 Freising, Germany 6BGI College, Zhengzhou University, Daxuebei Road No. 40, Zhengzhou 450052, China 7Henan Institute of Medical and Pharmaceutical Sciences, Zhengzhou University, Daxuebei Road No. 40, Zhengzhou 450052, China 8The Third Affiliated Hospital of Xinxiang Medical University, Hualan Road, No. 83, Xinxiang 453000, China Correspondence should be addressed to Changyun Yu; [email protected] and Wenxue Tang; [email protected] Received 24 November 2020; Revised 1 February 2021; Accepted 14 February 2021; Published 4 March 2021 Academic Editor: Burak Durmaz Copyright © 2021 Jinying Li et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
    [Show full text]
  • Wolfram Syndrome
    Wolfram syndrome Description Wolfram syndrome is a condition that affects many of the body's systems. The hallmark features of Wolfram syndrome are high blood sugar levels resulting from a shortage of the hormone insulin (diabetes mellitus) and progressive vision loss due to degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). People with Wolfram syndrome often also have pituitary gland dysfunction that results in the excretion of excessive amounts of urine (diabetes insipidus), hearing loss caused by changes in the inner ear (sensorineural deafness), urinary tract problems, reduced amounts of the sex hormone testosterone in males (hypogonadism), or neurological or psychiatric disorders. Diabetes mellitus is typically the first symptom of Wolfram syndrome, usually diagnosed around age 6. Nearly everyone with Wolfram syndrome who develops diabetes mellitus requires insulin replacement therapy. Optic atrophy is often the next symptom to appear, usually around age 11. The first signs of optic atrophy are loss of color vision and side ( peripheral) vision. Over time, the vision problems get worse, and people with optic atrophy are usually blind within approximately 8 years after signs of optic atrophy first begin. In diabetes insipidus, the pituitary gland, which is located at the base of the brain, does not function normally. This abnormality disrupts the release of a hormone called vasopressin, which helps control the body's water balance and urine production. Approximately 70 percent of people with Wolfram syndrome have diabetes insipidus. Pituitary gland dysfunction can also cause hypogonadism in males. The lack of testosterone that occurs with hypogonadism affects growth and sexual development.
    [Show full text]
  • Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia, a Type II
    661 J Med Genet: first published as 10.1136/jmg.39.9.661 on 1 September 2002. Downloaded from SHORT REPORT Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule A J Richards, J Morgan,PWPBearcroft, E Pickering, M J Owen, P Holmans, N Williams, C Tysoe, F M Pope, M P Snead, H Hughes ............................................................................................................................. J Med Genet 2002;39:661–665 quadrant of some patients. Although the vitreous did not A large family with dominantly inherited rhegmatogenous exhibit the congenital membraneous anomaly characteristic retinal detachment, premature arthropathy, and develop- of Stickler syndrome type 1,15–17 the architecture was strikingly ment of phalangeal epiphyseal dysplasia, resulting in abnormal, with absence of the usual lamellar array. Affected brachydactyly was linked to COL2A1, the gene encoding subjects had a spherical mean refractive error of –1.46 diopt- α pro 1(II) collagen. Mutational analysis of the gene by res (SD 1.5), which was not significantly greater than that in exon sequencing identified a novel mutation in the unaffected subjects (mean refractive error –0.71, SD 0.99, C-propeptide region of the molecule. The glycine to aspar- p=0.13, Mann-Whitney test). The axial length was slightly tic acid change occurred in a region that is highly greater in affected eyes (mean 24.6 mm, SD 0.73) compared conserved in all fibrillar collagen molecules. The resulting with unaffected eyes (mean 23.8 mm, SD 1.1, p=0.008, t test). phenotype does not fit easily into pre-existing subgroups of A single affected subject, whose axial length had increased to the type II collagenopathies, which includes spondyloepi- 33.5 mm, following retinal detachment surgery, distorted any physeal dysplasia, and the Kniest, Strudwick, and Stickler apparent variation in myopia between affected and unaffected dysplasias.
    [Show full text]
  • A Review of Hypermobility Syndromes and Chronic Or Recurrent Musculoskeletal Pain in Children Marco Cattalini1, Raju Khubchandani2 and Rolando Cimaz3*
    Cattalini et al. Pediatric Rheumatology (2015) 13:40 DOI 10.1186/s12969-015-0039-3 REVIEW Open Access When flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children Marco Cattalini1, Raju Khubchandani2 and Rolando Cimaz3* Abstract Chronic or recurrent musculoskeletal pain is a common complaint in children. Among the most common causes for this problem are different conditions associated with hypermobility. Pediatricians and allied professionals should be well aware of the characteristics of the different syndromes associated with hypermobility and facilitate early recognition and appropriate management. In this review we provide information on Benign Joint Hypermobility Syndrome, Ehlers-Danlos Syndrome, Marfan Syndrome, Loeys-Dietz syndrome and Stickler syndrome, and discuss their characteristics and clinical management. Keywords: Hyperlaxity, Musculoskeletal pain, Ehlers-Danlos, Marfan, Loeys-Dietz, Stickler Introduction Review Chronic or recurrent musculoskeletal pain is a common Benign joint hypermobility syndrome (BJHS) complaint in children, affecting between 10 % and 20 % Children with hypermobile joints by definition display a of children. It is one of the more frequent reasons for range of movement that is considered excessive, taking seeking a primary care physician’sevaluationandpos- into consideration the age, gender and ethnic background sible rheumatology referral [1, 2]. A wide variety of of the individual. It is estimated that at least 10–15 % of non-inflammatory conditions may cause musculoskel- normal children have hypermobile joints and the term etal pain in the pediatric age, and the most common joint hypermobility syndrome (JHS) is reserved to the causes seen by paediatric rheumatologists include cases of joint hypermobility associated with symptoms conditions associated with hypermobility.
    [Show full text]