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congenital sensorineural hearing loss

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https://www.readbyqxmd.com/read/29894555/clinical-characteristics-audiological-and-neurodevelopmental-outcomes-of-newborns-with-congenital-cytomegalovirus-infection
#1
Manuela Kobas, Myriam Bickle Graz, Anita Carmen Truttmann, Eric Giannoni, Pascal Meylan, Sandra Andrea Asner
BACKGROUND: Congenital cytomegalovirus (cCMV) infections are the leading nongenetic cause of congenital sensorineural hearing loss (SNHL); however the true impact of cCMV infections remains unknown. AIMS OF THE STUDY: (1) To identify the number of asymptomatic and symptomatic cCMV infections diagnosed between 1999 and 2014 at the Lausanne University Hospital; (2) to describe the audiological and neurodevelopmental outcomes of infants with cCMV infection; and (3) to compare clinical outcomes between infants born to mothers with primary versus nonprimary infection...
June 12, 2018: Swiss Medical Weekly
https://www.readbyqxmd.com/read/29851065/a-zpr1-mutation-is-associated-with-a-novel-syndrome-of-growth-restriction-distinct-craniofacial-features-alopecia-and-hypoplastic-kidneys
#2
Y A Ito, A C Smith, K D Kernohan, I A Pena, A Ahmed, L M McDonell, C Beaulieu, D E Bulman, A Smidt, S L Sawyer, D A Dyment, K M Boycott, C L Clericuzio
A novel autosomal recessive disorder characterized by pre- and post-natal growth restriction with microcephaly, distinctive craniofacial features, congenital alopecia, hypoplastic kidneys with renal insufficiency, global developmental delay, severe congenital sensorineural hearing loss, early mortality, hydrocephalus, and genital hypoplasia was observed in four children from three families of New Mexican Hispanic heritage. Three of the children died before three years of age from uremia and/or sepsis. Exome sequencing of the surviving individual identified a homozygous c...
May 30, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29849575/autosomal-recessive-congenital-sensorineural-hearing-loss-due-to-a-novel-compound-heterozygous-ptprq-mutation-in-a-chinese-family
#3
Xia Wu, Shan Wang, Sen Chen, Ying-Ying Wen, Bo Liu, Wen Xie, Dan Li, Lin Liu, Xiang Huang, Yu Sun, Wei-Jia Kong
PTPRQ gene, encoding protein tyrosine phosphatase receptor Q, is essential for the normal maturation and function of hair bundle in the cochlea. Its mutations can cause the defects of stereocilia in hair cell, which lead to nonsyndromic sensorineural hearing loss. Using next-generation sequencing and Sanger sequencing method, we identified a novel compound heterozygous missense mutation, c.4472C>T p.T1491M (maternal allele) and c.1973T>C p.V658A (paternal allele), in PTPRQ gene. The two mutations are the first reported to be the cause of recessively inherited sensorineural hearing loss...
2018: Neural Plasticity
https://www.readbyqxmd.com/read/29791932/b3galnt2-related-dystroglycanopathy-expansion-of-the-phenotype-with-novel-mutation-associated-with-muscle-eye-brain-disease-walker-warburg-syndrome-epileptic-encephalopathy-west-syndrome-and-sensorineural-hearing-loss
#4
Muna A Al Dhaibani, Ayman W El-Hattab, Omar Ismayl, Jehan Suleiman
Mutations in B3GALNT2 , encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have been reported with B3GALNT2 -related dystroglycanopathy with variable severity ranging from mild CMD to severe muscle-eye-brain disease. Here, we describe a child with a novel homozygous nonsense mutation in B3GALNT2 . The affected child has severe neurological disease since birth, including muscle disease manifested as hypotonia, muscle weakness, and wasting with elevated creatine kinase, eye disease including microphthalmia and blindness, brain disease with extensive brain malformations including massive hydrocephalus, diffuse cobblestone-lissencephaly, deformed craniocervical junction, and pontocerebellar hypoplasia...
May 23, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29784513/racial-and-ethnic-differences-in-the-prevalence-of-congenital-cytomegalovirus-infection
#5
Karen B Fowler, Shannon A Ross, Masako Shimamura, Amina Ahmed, April L Palmer, Marian G Michaels, David I Bernstein, Pablo J Sánchez, Kristina N Feja, Audra Stewart, Suresh Boppana
OBJECTIVE: To evaluate the impact of race and ethnicity upon the prevalence and clinical spectrum of congenital cytomegalovirus infection (cCMV). STUDY DESIGN: From 2007 to 2012, 100 332 infants from 7 medical centers were screened for cCMV while in the hospital. Ethnicity and race were collected and cCMV prevalence rates were calculated. RESULTS: The overall prevalence of cCMV in the cohort was 4.5 per 1000 live births (95% CI, 4.1-4.9)...
May 18, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29780970/three-challenges-for-future-research-on-cochlear-implants
#6
REVIEW
David B Pisoni, William G Kronenberger, Michael S Harris, Aaron C Moberly
Cochlear implants (CIs) often work very well for many children and adults with profound sensorineural (SNHL) hearing loss. Unfortunately, while many CI patients display substantial benefits in recognizing speech and understanding spoken language following cochlear implantation, a large number of patients achieve poor outcomes. Understanding and explaining the reasons for poor outcomes following implantation is a very challenging research problem that has received little attention despite the pressing clinical significance...
December 2017: World Journal of Otorhinolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/29768731/cochlear-implant-performance-in-children-deafened-by-congenital-cytomegalovirus-a-systematic-review
#7
V J C Kraaijenga, F Van Houwelingen, S F Van der Horst, J Visscher, J M L Huisman, E J Hollman, I Stegeman, A L Smit
BACKGROUND: Congenital cytomegalovirus (cCMV) infection is a major cause of sensorineural hearing loss in children. OBJECTIVE OF REVIEW: The objective of this systematic review was to compare performance in pediatric cochlear implant users with SNHL caused by cCMV compared to non-cCMV implantees. TYPE OF REVIEW: Systematic review. SEARCH STRATEGY: Pubmed, EMBASE and the Cochrane databases were searched from inception up to May 15th 2017 for children, cochlear implant, performance and their synonyms...
May 16, 2018: Clinical Otolaryngology
https://www.readbyqxmd.com/read/29761033/diagnosis-and-treatment-of-congenital-sensorineural-hearing-loss
#8
Divya A Chari, Dylan K Chan
Purpose of Review: The aim of this report is to review current literature regarding the work-up and management of congenital sensorineural hearing loss. Recent Findings: Diagnostic evaluation of a newborn with sensorineural hearing loss begins with a complete audiologic evaluation and comprehensive history and physical exam. This review presents a diagnostic algorithm for the work-up of congenital hearing loss, focusing on the three following modalities: cytomegalovirus testing, genetic evaluation, and imaging...
December 2017: Current Otorhinolaryngology Reports
https://www.readbyqxmd.com/read/29739340/mutation-analysis-of-slc26a4-pendrin-gene-in-a-brazilian-sample-of-hearing-impaired-subjects
#9
Renata Watanabe Nonose, Karina Lezirovitz, Maria Teresa Balester de Mello Auricchio, Ana Carla Batissoco, Guilherme Lopes Yamamoto, Regina Célia Mingroni-Netto
BACKGROUND: Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often severe or profound, which may be associated with abnormalities of the inner ear, such as dilatation of the vestibular aqueduct or Mondini dysplasia. But, in Pendred syndrome (OMIM #274600), with autosomal recessive inheritance, besides congenital sensorineural deafness, goiter or thyroid dysfunctions are frequently present...
May 8, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29720579/congenital-esophageal-atresia-and-microtia-in-a-newborn-secondary-to-mycophenolate-mofetil-exposure-during-pregnancy-a-case-report-and-review-of-the-literature
#10
Musaed Mohammed Alsebayel, Faisal Abdulrahman Abaalkhail, Faisal Mohammed Alsebayel, Dema A Alissa, Ahmed Hamdan Al-Jedai, Hussien Elsiesy
BACKGROUND Mycophenolate mofetil (MMF) is one of the most commonly prescribed drugs to prevent organ transplant rejection in combination with calcineurin inhibitors and steroids. It has a different toxicity profile than tacrolimus and cyclosporine.  Gastrointestinal tract disturbances are the most common adverse effects. The use of MMF in pregnant women, however, holds great risk of miscarriage and fetal development defects such as external ear malformation, ocular anomalies, cleft lip and palate, and abnormality of distal limbs, heart, esophagus, and kidneys...
May 3, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29705727/does-screening-for-congenital-cytomegalovirus-at-birth-improve-longer-term-hearing-outcomes
#11
REVIEW
Cathie Hilditch, Bianca Liersch, Nicola Spurrier, Emily J Callander, Celia Cooper, Amy K Keir
Currently, the diagnosis of congenital cytomegalovirus (cCMV) infection in most highly resourced countries is based on clinical suspicion alone. This means only a small proportion of cCMV infections are diagnosed. Identification, through either universal or targeted screening of asymptomatic newborns with cCMV, who would previously have gone undiagnosed, would allow for potential early treatment with antiviral therapy, ongoing audiological surveillance and early intervention if sensorineural hearing loss (SNHL) is identified...
April 28, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29688748/high-resolution-3t-magnetic-resonance-findings-in-cochlear-hypoplasias-and-incomplete-partition-anomalies-a-pictorial-review
#12
Giacomo Talenti, Renzo Manara, Davide Brotto, Felice D'Arco
Inner ear malformations (IEMs), recognized by imaging in 20% of children with congenital sensorineural hearing loss (SNHL), can be caused by both genetic anomalies and environmental causes. Recent histopathologic studies have provided new insights on the anatomy and pathogenesis of incomplete partitions and cochlear hypoplasia, for which different subtypes have been identified. Current IEM's classification systems are radiologically based, and modern advances in MR imaging now allow distinction of such different subtypes in most of the cases...
April 24, 2018: British Journal of Radiology
https://www.readbyqxmd.com/read/29681488/brain-magnetic-resonance-imaging-findings-of-congenital-cytomegalovirus-infection-as-a-prognostic-factor-for-neurological-outcome
#13
Minsun Kwak, Mi-Sun Yum, Hye-Ryun Yeh, Hyun-Jin Kim, Tae-Sung Ko
BACKGROUND: The aim of this study is to predict the neurological outcomes of patients with congenital cytomegalovirus infection by analysis of magnetic resonance images of the brain. METHODS: From June 2007 to June 2016, 31 patients were diagnosed with symptomatic congenital cytomegalovirus infection at Asan Medical Center. The medical records and magnetic resonance imaging (MRI) findings of these patients were reviewed, and the relationships between MRI findings and neurological outcomes were analyzed...
June 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29605391/valganciclovir-is-beneficial-in-children-with-congenital-cytomegalovirus-and-isolated-hearing-loss
#14
Yehonatan Pasternak, Liron Ziv, Joseph Attias, Jacob Amir, Efraim Bilavsky
OBJECTIVE: To evaluate the efficacy of antiviral treatment for infants with congenital cytomegalovirus (cCMV) with isolated sensorineural hearing loss (SNHL). STUDY DESIGN: Data were reviewed retrospectively for infants with isolated SNHL who received prolonged antiviral treatment between 2005 and 2017. Hearing status was evaluated for infants who had been followed for >1 year. RESULTS: Among 329 infants treated for cCMV, 59 (18%) were born with isolated SNHL...
March 28, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29605349/utility-of-whole-exome-sequencing-in-the-diagnosis-of-usher-syndrome-report-of-novel-compound-heterozygous-myo7a-mutations
#15
Khushnooda Ramzan, Mohammed Al-Owain, Rozeena Huma, Selwa A F Al-Hazzaa, Sarah Al-Ageel, Faiqa Imtiaz, Moeenaldeen Al-Sayed
Next generation sequencing (NGS), such as targeted panel sequencing, whole-exome sequencing and whole-genome sequencing has led to an exponential increase of elucidated genetic causes in both rare diseases, and common but heterogeneous disorders. NGS is applied in both research and clinical settings, and the clinical exome sequencing (CES), which provides not only the sequence variation data but also clinical interpretation, aids in reaching a final conclusion with regards to a genetic diagnosis. Usher syndrome is a group of disorders, characterized by bilateral sensorineural hearing loss, with or without vestibular dysfunction and retinitis pigmentosa...
May 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29605341/high-level-heteroplasmy-for-the-m-7445a-g-mitochondrial-dna-mutation-can-cause-progressive-sensorineural-hearing-loss-in-infancy
#16
Kana Matsushima, Atsuko Nakano, Yukiko Arimoto, Hideki Mutai, Kazuki Yamazawa, Kei Murayama, Tatsuo Matsunaga
OBJECTIVE: Hearing loss caused by mutation of mitochondrial DNA typically develops in late childhood or early adulthood, but rarely in infancy. We report the investigation of a patient to determine the cause of his early onset hearing loss. MATERIALS AND METHODS: The proband was a boy aged 1 year and 2 months at presentation. Newborn hearing screening test by automated auditory brainstem response generated "pass" results for both ears. His reaction to sound deteriorated by 9 months...
May 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29571077/neonates-with-congenital-cytomegalovirus-and-hearing-loss-identified-via-the-universal-newborn-hearing-screening-program
#17
William D Rawlinson, Pamela Palasanthiran, Beverly Hall, Laila Al Yazidi, Michael J Cannon, Carolyn Cottier, Wendy J van Zuylen, Monica Wilkinson
BACKGROUND: Congenital cytomegalovirus (CMV) is the most common non-genetic cause of sensorineural hearing loss. Currently, there are no universal CMV screening programs for newborns or routine CMV testing of neonates with hearing loss in Australia, or elsewhere. OBJECTIVES: This study was undertaken to determine the prevalence of congenital CMV infection in infants with hearing loss identified using routine resources via the Australian universal neonatal hearing screening (UNHS) program...
May 2018: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/29557247/hearing-trajectory-in-children-with-congenital-cytomegalovirus-infection
#18
Tatiana M Lanzieri, Winnie Chung, Jessica Leung, A Chantal Caviness, Jason L Baumgardner, Peggy Blum, Stephanie R Bialek, Gail Demmler-Harrison
Objectives To compare hearing trajectories among children with symptomatic and asymptomatic congenital cytomegalovirus infection through age 18 years and to identify brain abnormalities associated with sensorineural hearing loss (SNHL) in asymptomatic case patients. Study Design Longitudinal prospective cohort study. Setting Tertiary medical center. Subjects and Methods The study included 96 case patients (4 symptomatic and 92 asymptomatic) identified through hospital-based newborn cytomegalovirus screening from 1982 to 1992 and 72 symptomatic case patients identified through referrals from 1993 to 2005...
April 2018: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/29551497/a-novel-mutation-in-slitrk6-causes-deafness-and-myopia-in-a-moroccan-family
#19
Sara Salime, Zied Riahi, Soukaina Elrharchi, Lamiae Elkhattabi, Hicham Charoute, Halima Nahili, Hassan Rouba, Mostafa Kabine, Crystel Bonnet, Christine Petit, Abdelhamid Barakat
Deafness and myopia syndrome is characterized by moderate-profound, bilateral, congenital or prelingual deafness and high myopia. Autosomal recessive non-syndromic hearing loss is one of the most prevalent human genetic sensorineural defects. Myopia is by far the most common human eye disorder that is known to have a clear heritable component. The analysis of the two exons of SLITRK6 gene in a Moroccan family allowed us to identify a novel single deleterious mutation c.696delG, p.Trp232Cysfs*10 at homozygous state in the exon 2 of the SLITRK6, a gene reported to cause deafness and myopia in various populations...
June 15, 2018: Gene
https://www.readbyqxmd.com/read/29512778/mcmv-triggers-ros-nlrp3-associated-inflammasome-activation-in-the-inner-ear-of-mice-and-cultured-spiral-ganglion-neurons-contributing-to-sensorineural-hearing-loss
#20
Wei Zhuang, Caiji Wang, Xi Shi, Shiwei Qiu, Shili Zhang, Bing Xu, Min Chen, Wen Jiang, Hongyan Dong, Yuehua Qiao
Congenital cytomegalovirus (CMV) infection is the most common infectious cause of sensorineural hearing loss in children. While the importance of CMV‑induced SNHL has been described, the mechanisms underlying its pathogenesis and the role of inflammatory responses remain elusive. The present study established an experimental model of hearing loss after systemic infection with murine CMV (MCMV) in newborn mice. Auditory brainstem responses were tested to evaluate hearing at 3 weeks, expression of inflammasome‑-associated factors was assessed by immunofluorescence, western blot analysis, reverse transcription‑quantitative polymerase chain reaction and ELISA...
June 2018: International Journal of Molecular Medicine
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