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congenital sensorineural hearing loss

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https://www.readbyqxmd.com/read/29688748/high-resolution-3t-magnetic-resonance-findings-in-cochlear-hypoplasias-and-incomplete-partition-anomalies-a-pictorial-review
#1
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
#2
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...
March 21, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29605391/valganciclovir-is-beneficial-in-children-with-congenital-cytomegalovirus-and-isolated-hearing-loss
#3
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
#4
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
#5
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
#6
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
#7
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...
February 1, 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
#8
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...
March 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
#9
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...
March 6, 2018: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29508392/efnb2-haploinsufficiency-causes-a-syndromic-neurodevelopmental-disorder
#10
J Lévy, D Haye, N Marziliano, G Casu, F Guimiot, C Dupont, N Teissier, B Benzacken, P Gressens, E Pipiras, A Verloes, A-C Tabet
Ephrin B2, one of the ligand of the EphB receptors, is involved in a complex signaling pathway regulating the development of the nervous system, neuronal migration, erythropoiesis and vasculogenesis. We report a patient with a de novo variant in EFNB2 and a family in which segregates a 610-kb deletion at chromosome 13q33 encompassing only ARGLU1 and EFNB2 genes. The de novo variant was observed in a patient with anal stenosis, hypoplastic left ventricle and mild developmental delay. The deletion was identified in 2 sibs with congenital heart defect and mild developmental delay...
March 6, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29479184/diagnosis-and-management-of-infants-with-congenital-cytomegalovirus-infection
#11
Soren Gantt, Ari Bitnun, Christian Renaud, Fatima Kakkar, Wendy Vaudry
Congenital cytomegalovirus infection (cCMV) is the most common congenital infection, occurring in approximately 0.5% of live births. Most infected newborns are asymptomatic, but up to 20% develop sensorineural hearing loss or other permanent neurologic sequelae. The presentation of newborns with symptomatic cCMV is highly variable, and the infection is usually not diagnosed in the absence of a screening program. Newborn cCMV screening programs are estimated to be beneficial and cost-effective, and are increasingly being implemented...
May 2017: Paediatrics & Child Health
https://www.readbyqxmd.com/read/29469925/how-old-is-too-old-for-cochlear-implantation-for-congenital-bilateral-sensorineural-hearing-loss
#12
Tiffany N Chao, Jessica Levi, Robert C O'Reilly
No abstract text is available yet for this article.
February 22, 2018: Laryngoscope
https://www.readbyqxmd.com/read/29465841/permanent-childhood-hearing-impairment-aetiological-evaluation-of-infants-identified-through-the-irish-newborn-hearing-screening-programme
#13
A Smith, A O'Connor, S Hennessy, P G O'Sullivan, L Gibson
The Newborn Hearing Screening Programme (NHSP) was established in Cork University Maternity Hospital (CUMH) in April 2011. Between April 2011 and July 2014, 42 infants were identified with a Permanent Childhood Hearing Impairment (PCHI). Following this diagnosis, infants underwent a paediatric assessment according to recognised guidelines with the intention of identifying the underlying aetiology of the PCHI. The aim of this study was to assess the findings of this aetiological workup via retrospective chart review...
December 18, 2017: Irish Medical Journal
https://www.readbyqxmd.com/read/29447718/no-240-cytomegalovirus-infection-in-pregnancy
#14
Yoav Yinon, Dan Farine, Mark H Yudin
OBJECTIVES: To review the principles of prenatal diagnosis of congenital cytomegalovirus (CMV) infection and to describe the outcomes of the affected pregnancies. OUTCOMES: Effective management of fetal infection following primary and secondary maternal CMV infection during pregnancy. Neonatal signs include intrauterine growth restriction (IUGR), microcephaly, hepatosplenomegaly, petechiae, jaundice, chorioretinitis, thrombocytopenia and anemia, and long-term sequelae consist of sensorineural hearing loss, mental retardation, delay of psychomotor development, and visual impairment...
February 2018: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29443330/reply-to-the-letter-sensorineural-hearing-loss-and-congenital-cytomegalovirus-infection
#15
COMMENT
Paolo Fontana
No abstract text is available yet for this article.
March 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29441223/sensorineural-hearing-loss-and-congenital-cytomegalovirus-infection
#16
Beuy Joob, Viroj Wiwanitkit
No abstract text is available yet for this article.
March 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29440752/one-step-noninvasive-prenatal-testing-nipt-for-autosomal-recessive-homozygous-point-mutations-using-digital-pcr
#17
Mun Young Chang, Soyeon Ahn, Min Young Kim, Jin Hee Han, Hye-Rim Park, Han Kyu Seo, Jinsun Yoon, Seungmin Lee, Doo-Yi Oh, Changsoo Kang, Byung Yoon Choi
Previously, we introduced a noninvasive prenatal testing (NIPT) protocol for diagnosing compound heterozygous autosomal recessive point mutations via maternal plasma DNA and simulated control genomic DNA sampling based on fetal DNA fraction. In our present study, we have improved our NIPT protocol to make it possible to diagnose homozygous autosomal recessive point mutations without the need to acquire fetal DNA fraction. Moreover, chi-squared test and empirical statistical range based on the proportion of mutant allele reads among the total reads served as the gatekeeping method...
February 13, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29395617/unilateral-congenital-hearing-loss-in-children-challenges-and-potentials
#18
REVIEW
Astrid van Wieringen, An Boudewyns, Anouk Sangen, Jan Wouters, Christian Desloovere
The estimated incidence of sensorineural hearing impairment (>40 dB HL) at birth is 1.86 per 1000 newborns in developed countries and 30-40% of these are unilateral. Profound sensorineural unilateral hearing impairment or single sided deafness (SSD) can be treated with a cochlear implant. However, this treatment is costly and invasive and unnecessary in the eyes of many. Very young children with SSD often do not exhibit language and cognitive delays and it is hard to imagine that neurocognitive skills will present difficulties with one good ear...
January 30, 2018: Hearing Research
https://www.readbyqxmd.com/read/29373759/results-of-a-targeted-screening-program-for-congenital-cytomegalovirus-infection-in-infants-who-fail-newborn-hearing-screening
#19
Emily Vancor, Eugene D Shapiro, Jaspreet Loyal
Background: Congenital cytomegalovirus (CMV) infection is a major cause of sensorineural hearing loss. By law, newborns in Connecticut who fail newborn hearing screening are tested for infection with CMV. This targeted screening is controversial, because most children with congenital CMV infection are asymptomatic, and CMV-related hearing loss can have a delayed onset. Our hospital uses a saliva polymerase chain reaction (PCR) assay (confirmed by a urine PCR assay) to detect CMV. Here, we report the results of the first year of our screening program...
January 24, 2018: Journal of the Pediatric Infectious Diseases Society
https://www.readbyqxmd.com/read/29372238/otolaryngologic-manifestations-of-klippel-feil-syndrome-in-children
#20
Margaret A Kenna, Alexandria L Irace, Julie E Strychowsky, Kosuke Kawai, Devon Barrett, Juliana Manganella, Michael J Cunningham
Importance: Children with Klippel-Feil syndrome (KFS), characterized principally by abnormal fusion of 2 or more cervical vertebrae, may have many additional congenital anomalies. The overall prevalence of otolaryngologic manifestations among patients with KFS has not been previously characterized. Objective: To define the otolaryngologic diagnoses made and procedures performed in 95 patients with KFS, which, to our knowledge, is the largest series of this challenging patient population published to date...
March 1, 2018: JAMA Otolaryngology—Head & Neck Surgery
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