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congenital sensorineural hearing loss

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https://www.readbyqxmd.com/read/27909890/does-severity-of-cerebral-mri-lesions-in-congenital-cmv-infection-correlates-with-the-outcome-of-cochlear-implantation
#1
Stefan Lyutenski, Friedrich Götz, Alexandros Giourgas, Omid Majdani, Eva Bültmann, Heinrich Lanfermann, Thomas Lenarz, Anja M Giesemann
The objective is to investigate whether there is a correlation between the severity of typical brain lesions in congenital cytomegalovirus (cCMV) infection and cochlear implant (CI) outcome. The design of the study is a retrospective single-institutional chart review (2005-2015), performed in a tertiary academic referral center. 23 children with typical signs of cCMV infection on cerebral magnetic resonance imaging (MRI) and bilateral severe-to-profound sensorineural hearing loss were retrospectively evaluated...
December 1, 2016: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/27891421/imaging-modality-of-choice-for-pre-operative-cochlear-imaging-hrct-vs-mri-temporal-bone
#2
Poornima Digge, Rajendra N Solanki, Dipali C Shah, Rajesh Vishwakarma, Sandeep Kumar
INTRODUCTION: Congenital inner ear malformations occur as a result of the arrest or aberrance of inner ear development due to the heredity, gene mutation or other factors. Ever since the availability of cochlear implants, pre-operative evaluation by imaging of temporal bone has gained much attention. Precise selection of the candidate for cochlear implant dependent on preoperative radiological investigations. Only CT (Computed Tomography) and MRI (Magnetic Resonance Imaging) can provide a better picture of anatomy and pathology...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27861301/a-novel-mutation-in-slc26a4-causes-nonsyndromic-autosomal-recessive-hearing-impairment
#3
Axel Wolf, Alexandra Frohne, Matthew Allen, Thomas Parzefall, Martin Koenighofer, Markus M Schreiner, Christian Schoefer, Klemens Frei, Trevor Lucas
BACKGROUND: Heterozygous mutations in GJB2 (MIM: 121011) encoding the gap junction protein connexin 26 are overrepresented in patient groups suffering from nonsyndromic sensorineural hearing impairment (HI) implying the involvement of additional genetic factors. Mutations in SLC26A4 (MIM: 605646), encoding the protein pendrin can cause both Pendred syndrome and autosomal recessive, nonsyndromic HI locus 4 type sensorineural HI (MIM: 600791). OBJECTIVES: Aim of this study was to investigate the role of SLC26A4 coding mutations in a nonsyndromic hearing impairment (NSHI) patient group bearing heterozygous GJB2 35delG mutations...
November 17, 2016: Otology & Neurotology
https://www.readbyqxmd.com/read/27827000/the-role-of-alternative-gjb2-transcription-in-screening-for-neonatal-sensorineural-deafness-in-austria
#4
Thomas Parzefall, Trevor Lucas, Martin Koenighofer, Reinhard Ramsebner, Alexandra Frohne, Shelly Czeiger, Wolf-Dieter Baumgartner, Christian Schoefer, Wolfgang Gstoettner, Klemens Frei
CONCLUSION: Alterations within a novel putative Exon 1a within the gap junction beta 2 (GJB2) gene may play a role in the development of genetic hearing impairment in Austria. OBJECTIVES: Mutations in the GJB2 gene are the most common cause of hereditary sensorineural deafness. Genome-wide screening for alternative transcriptional start sites in the human genome has revealed the presence of an additional GJB2 exon (E1a). This study tested the hypothesis of whether alternative GJB2 transcription involving E1a may play a role in the development of congenital sensorineural deafness in Austria...
November 9, 2016: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/27815843/coxpd9-an-evolving-multisystem-disease-congenital-lactic-acidosis-sensorineural-hearing-loss-hypertrophic-cardiomyopathy-cirrhosis-and-interstitial-nephritis
#5
C Bursle, A Narendra, R Chuk, J Cardinal, R Justo, B Lewis, D Coman
We present the second report of combined oxidative phosphorylation deficiency-9. The infant presented in the neonatal period with poor feeding, lactic acidosis and sensorineural hearing loss. He subsequently developed a lethal hypertrophic cardiomyopathy during infancy. Cirrhosis and interstitial nephritis were identified at autopsy. Exome sequencing has detected compound heterozygous mutations in the MRPL3 gene which encodes a large mitochondrial ribosome subunit protein. We identified a known heterozygous variant NM_007208 c...
November 5, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27774063/a-novel-asp121asn-mutation-of-myelin-protein-zero-is-associated-with-late-onset-axonal-charcot-marie-tooth-disease-hearing-loss-and-pupil-abnormalities
#6
Xiaohui Duan, Weihong Gu, Ying Hao, Renbin Wang, Hong Wen, Shaojie Sun, Jinsong Jiao, Dongsheng Fan
Myelin protein zero (MPZ) is a major component of compact myelin in peripheral nerves. Mutations in MPZ have been associated with different Charcot-Marie-Tooth disease (CMT) phenotypes (CMT1B, CMT2I/J, CMTDI), Dejerine-Sottas syndrome, and congenital hypomyelination neuropathy. Here, we report phenotypic variability in a four-generation Chinese family with the MPZ mutation Asp121Asn. Genetic testing was performed on nine family members and 200 controls. Clinical, electrophysiological and skeletal muscle MRI assessments were available for review in six family members...
2016: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/27751652/a-case-of-congenital-spinal-muscular-atrophy-with-pain-due-to-a-mutation-in-trpv4
#7
Jason Fleming, Dianna Quan
We present a patient with congenital spinal muscular atrophy associated with pain, subjective sensory loss, right talipes equinovarus, delayed walking, and progressive gait impairment. A sister and niece reportedly had Charcot-Marie-Tooth 1A, but the patient's electromyogram showed an axonal motor neuropathy or neuronopathy. We identified a c.806G>A TRPV4 gene mutation causing an Arg269His amino acid substitution. TRPV4 mutations cause variable phenotypes including axonal sensorimotor neuropathy and motor neuropathy or neuronopathy...
September 16, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27743452/the-combination-of-vestibular-impairment-and-congenital-sensorineural-hearing-loss-predisposes-patients-to-ocular-anomalies-including-usher-syndrome
#8
Stephanie Kletke, Vaishnavi Batmanabane, Tianyang Dai, Ajoy Vincent, Shuning Li, Karen A Gordon, Blake C Papsin, Sharon L Cushing, Elise Héon
The co-occurrence of hearing impairment and visual dysfunction is devastating. Most deaf-blind etiologies are genetically determined, the commonest being Usher syndrome (USH). While studies of the congenitally deaf population reveal a variable degree of visual problems, there are no effective ophthalmic screening guidelines. We hypothesized that children with congenital sensorineural hearing loss (SNHL) and vestibular impairment were at an increased risk of having Usher syndrome. A retrospective chart review of 33 cochlear implants recipients for severe to profound SNHL and measured vestibular dysfunction was done to determine the ocular phenotype...
October 15, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27729122/compound-heterozygous-myo7a-mutations-segregating-usher-syndrome-type-2-in-a-han-family
#9
Ling Zong, Kaitian Chen, Xuan Wu, Min Liu, Hongyan Jiang
OBJECTIVE: Identification of rare deafness genes for inherited congenital sensorineural hearing impairment remains difficult, because a large variety of genes are implicated. In this study we applied targeted capture and next-generation sequencing to uncover the underlying gene in a three-generation Han family segregating recessive inherited hearing loss and retinitis pigmentosa. METHODS: After excluding mutations in common deafness genes GJB2, SLC26A4 and the mitochondrial gene, genomic DNA of the proband of a Han family was subjected to targeted next-generation sequencing...
November 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27729118/the-experience-of-bilateral-cochlear-implantation-in-a-child-with-leopard-syndrome
#10
Katrien Vermeire, Leslie Wexler, Andrea Vambutas
We present a 3-year old boy with Leopard syndrome. His clinical manifestations included a congenital bilateral sensorineural hearing loss. He underwent cochlear implantation on the right side at age 1 year and on the left side at age 1.5 years. The patient is doing very well and mainstreamed in a regular pre-school program with a teacher of the deaf and home based speech therapy. Bilateral cochlear implantation in the case of a child with Leopard syndrome can be successful.
November 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27716607/a-challenge-for-cochlear-implantation-duplicated-internal-auditory-canal
#11
Adem Binnetoğlu, Tekin Bağlam, Murat Sarı, Yavuz Gündoğdu, Çağlar Batman
Duplication of the internal auditory canal is an uncommon, congenital malformation that can be associated with sensorineural hearing loss owing to aplasia/hypoplasia of the vestibulocochlear nerve. Only 14 such cases have been reported to date. We report the case of a 13-month-old girl with bilateral, congenital, sensorineural hearing loss caused by narrow, duplicated internal auditory canals and discuss the challenges encountered in the diagnosis and treatment of this condition.
August 2016: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/27627831/ocular-disorders-in-turkish-children-with-sensorineural-hear%C3%A4-ng-loss-a-cross-sectional-study-and-literature-review
#12
Pinar Altiaylik Ozer, Emrah Utku Kabatas, Gokce Tasdemir Ertugrul, Bengi Ece Kurtul, Umut Kaygusuz, Selmin Karatayli Ozgursoy
PURPOSE: To investigate types and frequencies of ocular disorders in children with sensorineural hearing loss (SNHL), and to emphasize the importance of ophthalmological examination in these children. METHODS: A retrospective analysis of the examination records of children examined in our instutititon between January 2011 and September 2014 was performed. Ocular disorders of children with SHNL were selectively reviewed. RESULTS: Among 55340 patients, SNHL was present in 110 (0...
September 14, 2016: Seminars in Ophthalmology
https://www.readbyqxmd.com/read/27620717/delayed-diagnosis-of-pendred-syndrome
#13
Natalie Smith, Jean-Marie U-King-Im, Janaka Karalliedde
We describe a case of a delayed diagnosis of Pendred syndrome. The patient had a history of hearing loss from childhood and presented to the endocrine clinic when aged 32 with an enlarging goitre. The characteristic Mondini deformity was noted on auditory canal MRI scan. Genetic tests confirmed the diagnosis. Pendred syndrome is an autosomal recessive disorder, characterised by congenital sensorineural hearing loss, goitre and impaired iodide organification and can present at any age. We highlight to the general physician the classical features of this syndrome that would aid early diagnosis...
2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27607910/update-on-treatment-of-cytomegalovirus-infection-in-pregnancy-and-of-the-newborn-with-congenital-cytomegalovirus
#14
William D Rawlinson, Stuart T Hamilton, Wendy J van Zuylen
PURPOSE OF REVIEW: The purpose of this review is to assess the recent studies of therapy of pregnant women and neonates, aimed at preventing the consequences of congenital cytomegalovirus (CMV) infection. RECENT FINDINGS: A recent randomized controlled trial of treatment of CMV during pregnancy with hyperimmune globulin did not show significant efficacy in prevention of foetal infection and morbidity, although there was a trend towards improvement with treatment...
December 2016: Current Opinion in Infectious Diseases
https://www.readbyqxmd.com/read/27606025/psychiatric-manifestations-of-congenital-rubella-syndrome-a-case-report-and-review-of-literature
#15
Nidhi Chauhan, Mahadev Singh Sen, Soumya Jhanda, Sandeep Grover
Neurodevelopmental disorders are known to have varied etiology. Among known etiologic causes, congenital rubella syndrome (CRS) is reported to be one of the infections associated with neurodevelopmental disorders. CRS has been reported to be associated with large number of psychiatric manifestation. However, data from developing countries on psychiatric manifestations of CRS are nonexistent. In this report, we present the case of a 7-year-old boy, who presented with mental retardation, atypical autism, and attention deficit hyperactivity disorder...
April 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27604145/tietz-waardenburg-type-2a-syndrome-associated-with-posterior-microphthalmos-in-two-unrelated-patients-with-novel-mitf-gene-mutations
#16
Vianney Cortés-González, Juan Carlos Zenteno, Martín Guzmán-Sánchez, Verónica Giordano-Herrera, Dalia Guadarrama-Vallejo, Narlly Ruíz-Quintero, Cristina Villanueva-Mendoza
Tietz syndrome and Waardenburg syndrome type 2A are allelic conditions caused by MITF mutations. Tietz syndrome is inherited in an autosomal dominant pattern and is characterized by congenital deafness and generalized skin, hair, and eye hypopigmentation, while Waardenburg syndrome type 2A typically includes variable degrees of sensorineural hearing loss and patches of de-pigmented skin, hair, and irides. In this paper, we report two unrelated families with MITF mutations. The first family showed an autosomal dominant pattern and variable expressivity...
September 8, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27596679/maternal-and-placental-factors-associated-with-congenital-hearing-loss-in-very-preterm-neonates
#17
Shin Hye Kim, Byung Yoon Choi, Jaehong Park, Eun Young Jung, Soo-Hyun Cho, Kyo Hoon Park
BACKGROUND: Sensorineural hearing loss (SNHL) is a multifactorial disease that more frequently affects preterm newborns. Although a number of maternal conditions have been reported to be associated with preterm birth, little information is available concerning maternal risk factors for the development of SNHL. We aimed to identify maternal and placental risk factors associated with a "refer" result on the newborn hearing screening (NHS) test and subsequently confirmed SNHL in very preterm neonates...
August 9, 2016: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/27585248/hearing-loss-in-infants-with-microcephaly-and-evidence-of-congenital-zika-virus-infection-brazil-november-2015-may-2016
#18
Mariana C Leal, Lilian F Muniz, Tamires S A Ferreira, Cristiane M Santos, Luciana C Almeida, Vanessa Van Der Linden, Regina C F Ramos, Laura C Rodrigues, Silvio S Caldas Neto
Congenital infection with Zika virus causes microcephaly and other brain abnormalities (1). Hearing loss associated with other congenital viral infections is well described; however, little is known about hearing loss in infants with congenital Zika virus infection. A retrospective assessment of a series of 70 infants aged 0-10 months with microcephaly and laboratory evidence of Zika virus infection was conducted by the Hospital Agamenon Magalhães in Brazil and partners. The infants were enrolled during November 2015-May 2016 and had screening and diagnostic hearing tests...
2016: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/27530937/human-cytomegalovirus-downregulates-slitrk6-expression-through-ie2
#19
Huanan Liao, Haruna Sato, Ryosuke Chiba, Tomoko Kawai, Kazuhiko Nakabayashi, Kenichiro Hata, Hidenori Akutsu, Shigeyoshi Fujiwara, Hiroyuki Nakamura
Congenital human cytomegalovirus (HCMV) infection causes sensorineural hearing loss (SNHL) and other neurological disorders, although the neuropathogenesis of HCMV infection is not well understood. Here, we show that the expression of SLITRK6, one of causative genes for hereditary SNHL, was robustly downregulated by HCMV infection in cultured neural cells. We also show that HCMV-encoded immediate-early 2 (IE2) proteins mediate this downregulation and their carboxy-terminal region, especially amino acid residue Gln(548), has a critical role...
August 16, 2016: Journal of Neurovirology
https://www.readbyqxmd.com/read/27511347/ophthalmic-pathologies-in-female-subjects-with-bilateralcongenital-sensorineural-hearing-loss
#20
Mehmet Talay Köylü, Gökçen Gökçe, Güngor Sobaci, Fahrettin Güven Oysul, Dorukcan Akincioğlu
BACKGROUND/AIM: The high prevalence of ophthalmologic pathologies in hearing-disabled subjects necessitates early screening of other sensory deficits, especially visual function. The aim of this study is to determine the frequency and clinical characteristics of ophthalmic pathologies in patients with congenital bilateral sensorineural hearing loss (SNHL). MATERIALS AND METHODS: This descriptive study is a prospective analysis of 78 young female SNHL subjects who were examined at a tertiary care university hospital with a detailed ophthalmic examination, including electroretinography (ERG) and visual field tests as needed...
2016: Turkish Journal of Medical Sciences
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