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https://www.readbyqxmd.com/read/28821934/whole-exome-sequencing-to-identify-the-cause-of-congenital-sensorineural-hearing-loss-in-carriers-of-a-heterozygous-gjb2-mutation
#1
Thomas Parzefall, Alexandra Frohne, Martin Koenighofer, Andreas Kirchnawy, Berthold Streubel, Christian Schoefer, Klemens Frei, Trevor Lucas
Bi-allelic variations in the gap junction protein beta-2 (GJB2) gene cause up to 50% of cases of newborn hearing loss. Heterozygous pathogenic GJB2 variations are also fivefold overrepresented in idiopathic patient groups compared to the normal-hearing population. Whether hearing loss in this group is due to unidentified additional variations within GJB2 or variations in other deafness genes is unknown in most cases. Whole-exome sequencing offers an effective approach in the search for causative variations in patients with Mendelian diseases...
August 18, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28815627/should-infants-who-fail-their-newborn-hearing-screen-undergo-cytomegalovirus-testing
#2
Albert H Park, Angela G Shoup
No abstract text is available yet for this article.
August 16, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28815360/epidemiology-in-germany-general-development-and-personal-experience
#3
Heinz-Erich Wichmann
Did you ever hear about epidemiology in Germany? Starting from an epidemiological desert the discipline has grown remarkably, especially during the last 10-15 years: research institutes have been established, research funding has improved, multiple curriculae in Epidemiology and Public Health are offered. This increase has been quite steep, and now the epidemiological infrastructure is much better. Several medium-sized and even big population cohorts are ongoing, and the number and quality of publications from German epidemiologists has reached a respectable level...
August 16, 2017: European Journal of Epidemiology
https://www.readbyqxmd.com/read/28813070/neonatal-hearing-screening-in-primary-health-care-and-family-health-care
#4
José Carlos Sabbag, Adriana Bender Moreira de Lacerda
Purpose: The Universal Newborn Hearing Screening (UNHS) looks for early diagnosis and rehabilitation of newborns at risk or not of hearing impairment. The purpose is analyze the flow of Universal Newborn Hearing Screening in the family health care strategy unit through the tracking and monitoring of children. Methods: This is a quantitative and retrospective study. The trace begins with the third copy of the Live Newborn Declaration, filled in at the maternity ward...
August 10, 2017: CoDAS
https://www.readbyqxmd.com/read/28802365/exploring-reasons-for-late-identification-of-children-with-early-onset-hearing-loss
#5
Elizabeth M Fitzpatrick, Johnny Cesconetto Dos Santos, Viviane Grandpierre, JoAnne Whittingham
INTRODUCTION: Several studies have shown that early identification of childhood hearing loss leads to better language outcomes. However, delays in the confirmation of hearing loss persist even in the presence of well-established universal newborn hearing screening programs (UNHS). The objective of this population-based study was to document the proportion of children who experienced delayed confirmation of congenital and early onset hearing loss in a UNHS program in one region of Canada...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28802360/resolution-of-bilateral-sensorineural-hearing-loss-following-ventriculoperitoneal-shunt-and-literature-review
#6
A Jamshidi, C Glidewell, J Murnick, S Magge, B K Reilly
OBJECTIVE: The purpose of this study is to highlight the relationship between obstructive hydrocephalus, changes in intracranial pressure, and sensorineural hearing loss. METHODS: A case of a 10-month old infant with sensorineural hearing loss secondary to obstructive hydrocephalus is reported. A literature review, with a focus on sensorineural hearing loss in the setting of changes in intracranial pressure, was performed. RESULTS: The authors report the case of a 10-month old infant with metopic and bicoronal craniosynostosis who presented with bilateral moderately severe sensorineural hearing loss after failing newborn hearing screening...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28734895/a-sensitive-and-convenient-method-for-clinical-detection-of-non-syndromic-hearing-loss-associated-common-mutations
#7
Er-Feng Yuan, Wei Xia, Jing-Tao Huang, Ling Hu, Xing Liao, Xiang Dai, Song-Mei Liu
BACKGROUND: The majority of non-syndromic hearing loss (NSHL) patients result from causative mutations in GJB2, SLC26A4 and mitochondrial 12S rRNA genes. Accurate detection of these genetic mutations is increasingly recognized for its clinical significance to reduce incidence and guide individual treatment of NSHL. Current methods for clinical practice are labor intensive, expensive or of low sensitivity. METHODS: Genomic DNA from 7 newborns not passing the hearing screening and 94 newborns passing the hearing screening were analyzed for the common mutations using high resolution melting analysis (HRMA) and Sanger sequencing...
July 19, 2017: Gene
https://www.readbyqxmd.com/read/28731912/assessing-infant-and-maternal-readiness-for-newborn-discharge
#8
Ling Jing, Casidhe-Nicole Bethancourt, Thomas McDonagh
PURPOSE OF REVIEW: The review highlights the shift from prescribed length of stay (LOS) to mother-infant dyad readiness as the basis for making discharge decisions for healthy term newborns. We describe the components of readiness that should be considered in making the decision, focusing on infant clinical readiness, and maternal and familial readiness. RECENT FINDINGS: Although the Newborns' and Mothers' Health Protection Act of 1996 aimed to protect infants and mothers by establishing a minimum LOS, the American Academy of Pediatrics 2015 policy on newborn discharge acknowledges the shift from LOS-based to readiness-based discharge decision-making...
July 20, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28717060/clinical-data-analysis-of-genotypes-and-phenotypes-of-deafness-gene-mutations-in-newborns-a-retrospective-study
#9
Yating Du, Lihui Huang, Xueyao Wang, Qingjia Cui, Xiaohua Cheng, Liping Zhao, Tingting Ni
We retrospectively analyzed newborns with deafness gene mutations and summarized the relationship between genotype and phenotype to provide a basis for genetic counseling. We studied 582 subjects positive for deafness gene mutations that were treated in the otology outpatient department of Beijing Tongren Hospital, Capital Medical University, between April 2012 and April 2016. The subjects were divided into 3 categories: a diagnosed group (group A), which was further subdivided into subgroups A1 (homozygous and compound heterozygous GJB2 mutations) and A2 (homozygous and compound heterozygous SLC26A4 mutations); a drug-induced deafness group (group B, mitochondrial (Mt) gene mutations); and a mutation carrier group (group C), which was further subdivided into the subgroups C1 (GJB2 heterozygous mutations), C2 (SLC26A4 heterozygous mutations), C3 (GJB3 heterozygous mutations), and C4 (double gene mutations)...
July 17, 2017: Bioscience Trends
https://www.readbyqxmd.com/read/28697607/wideband-acoustic-immittance-for-assessing-middle-ear-functioning-for-preterm-neonates-in-the-neonatal-intensive-care-unit
#10
Nandel Gouws, De Wet Swanepoel, Leigh Biagio De Jager
BACKGROUND: The primary aim of newborn hearing screening is to detect permanent hearing loss. Because otoacoustic emissions (OAEs) and automated auditory brainstem response (AABR) are sensitive to hearing loss, they are often used as screening tools. On the other hand, false-positive results are most often because of transient outer- and middle ear conditions. Wideband acoustic immittance (WAI), which includes physical measures known as reflectance and absorbance, has shown potential for accurate assessment of middle ear function in young infants...
June 28, 2017: South African Journal of Communication Disorders. die Suid-Afrikaanse Tydskrif Vir Kommunikasieafwykings
https://www.readbyqxmd.com/read/28697513/-prevalence-risk-factors-and-diagnostics-of-hearing-impairment-in-preterm-infants
#11
C Franck, W Vorwerk, A Köhn, A Rißmann, U Vorwerk
Introduction: The preterm birth is clearly associated with increased risk of developing congenital hearing impairment. Therefore, special attention must be paid to the postnatal control of auditory function in all preterm infants. The present work investigates if the latest scientific findings regarding prevalence, clinical diagnostics, therapy and risk factors of hearing impairment in premature infants are regularly implemented in daily practice. Methods: At the department of phoniatrics and pediatric audiology of the University Hospital of Magdeburg, the treatment data of 126 preterm children born between 2006 and 2011 were evaluated retrospectively...
June 2017: Laryngo- Rhino- Otologie
https://www.readbyqxmd.com/read/28682820/current-assessment-of-newborn-hearing-screening-protocols
#12
Rosario R Ricalde, Charlotte M Chiong, Patrick John P Labra
PURPOSE OF REVIEW: The objective of this article is to assess current newborn hearing screening protocols. We will focus on technologies or modalities used, protocol steps, training of screeners, timing of first screen, and loss to follow-up. A summary of program reports focusing on protocols from Greece, China, South Africa, France, Spain, South Korea, Denmark, Italy, Turkey, Taiwan, South Korea, Poland and Iran as they are recently reported will also be presented. RECENT FINDINGS: Community-based hearing screening programs in South Africa and efforts in the Asian region are being reported...
July 5, 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/28679960/preexisting-antibodies-can-protect-against-congenital-cytomegalovirus-infection-in-monkeys
#13
Cody S Nelson, Diana Vera Cruz, Dollnovan Tran, Kristy M Bialas, Lisa Stamper, Huali Wu, Margaret Gilbert, Robert Blair, Xavier Alvarez, Hannah Itell, Meng Chen, Ashlesha Deshpande, Flavia Chiuppesi, Felix Wussow, Don J Diamond, Nathan Vandergrift, Mark R Walter, Peter A Barry, Michael Cohen-Wolkowiez, Katia Koelle, Amitinder Kaur, Sallie R Permar
Human cytomegalovirus (HCMV) is the most common congenital infection and a known cause of microcephaly, sensorineural hearing loss, and cognitive impairment among newborns worldwide. Natural maternal HCMV immunity reduces the incidence of congenital infection, but does not prevent the disease altogether. We employed a nonhuman primate model of congenital CMV infection to investigate the ability of preexisting antibodies to protect against placental CMV transmission in the setting of primary maternal infection and subsequent viremia, which is required for placental virus exposure...
July 6, 2017: JCI Insight
https://www.readbyqxmd.com/read/28678066/hearing-health-access-in-developing-countries
#14
Michael S Harris, Edward E Dodson
PURPOSE OF REVIEW: The developing world carries a disproportionate burden of hearing loss. Individuals with hearing loss in austere settings worldwide are also potentially impacted by their impairment to a greater extent owing to underdeveloped or nonexistent hearing health infrastructure. The purpose of this review is to examine the state of the literature on hearing health access in developing countries and identify areas for improvement. RECENT FINDINGS: Over the last 10 years progress has been made in some areas, whereas other aspects of hearing health in developing countries have changed very little...
July 3, 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/28674020/brain-regions-and-functional-interactions-supporting-early-word-recognition-in-the-face-of-input-variability
#15
Silvia Benavides-Varela, Roma Siugzdaite, David Maximiliano Gómez, Francesco Macagno, Luigi Cattarossi, Jacques Mehler
Perception and cognition in infants have been traditionally investigated using habituation paradigms, assuming that babies' memories in laboratory contexts are best constructed after numerous repetitions of the very same stimulus in the absence of interference. A crucial, yet open, question regards how babies deal with stimuli experienced in a fashion similar to everyday learning situations-namely, in the presence of interfering stimuli. To address this question, we used functional near-infrared spectroscopy to test 40 healthy newborns on their ability to encode words presented in concomitance with other words...
July 18, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28671437/expanded-newborn-screening-information-and-resources-for-the-family-physician
#16
REVIEW
David Glenn Weismiller
Each year, 4 to 5 million newborns receive state-mandated screening. Although the Advisory Committee on Heritable Disorders in Newborns and Children has identified 34 core conditions that should be incorporated into screening programs, each state manages, funds, and maintains its own program. State programs encompass screening, as well as the diagnosis and coordination of care for newborns with positive findings. Testing for core disorders is fairly standardized, but more extensive screening varies widely by state, and the rigorous evaluation of new screening panels is ongoing...
June 1, 2017: American Family Physician
https://www.readbyqxmd.com/read/28649563/symptomatic-congenital-cytomegalovirus-infection-in-children-of-seropositive-women
#17
Ines Mack, Marie-Anne Burckhardt, Ulrich Heininger, Friederike Prüfer, Sven Schulzke, Sven Wellmann
Cytomegalovirus (CMV) is the most frequent congenital virus infection worldwide. The risk of congenital CMV (cCMV) transmission is highest in seronegative women who acquire primary CMV infection during pregnancy. A growing body of evidence indicates that secondary CMV infections in pregnant women with preconceptual immunity (either through reactivation of latent virus or re-infection with a new strain of CMV) contribute to a much greater proportion of symptomatic cCMV than was previously thought. Here, we describe a case of symptomatic cCMV infection in the newborn of a woman with proven immunity prior to pregnancy...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28639843/characteristics-of-children-with-unilateral-hearing-loss
#18
Elizabeth M Fitzpatrick, Rakan S Al-Essa, JoAnne Whittingham, Jessica Fitzpatrick
OBJECTIVE: The purpose of this study was to describe the clinical characteristics of children with unilateral hearing loss (UHL), examine deterioration in hearing, and explore amplification decisions. DESIGN: Population-based data were collected prospectively from time of diagnosis. Serial audiograms and amplification details were retrospectively extracted from clinical charts to document the trajectory and management of hearing loss. SAMPLE: The study included all children identified with UHL in one region of Canada over a 13-year period (2003-2015) after implementation of universal newborn hearing screening...
June 22, 2017: International Journal of Audiology
https://www.readbyqxmd.com/read/28629849/analysis-of-archived-newborn-dried-blood-spots-dbs-identifies-congenital-cytomegalovirus-as-a-major-cause-of-unexplained-pediatric-sensorineural-hearing-loss
#19
Lucy Meyer, Bazak Sharon, Tina C Huang, Abby C Meyer, Kristin E Gravel, Lisa A Schimmenti, Elizabeth C Swanson, Hannah E Herd, Nelmary Hernandez-Alvarado, Kirsten R Coverstone, Mark McCann, Mark R Schleiss
PURPOSE: Congenital cytomegalovirus (cCMV) infection is the most common non-genetic cause of sensorineural hearing loss (SNHL). However, accurate diagnosis of cCMV as the etiology of SNHL is problematic beyond the neonatal period. This study therefore examined whether cCMV infection could be identified retrospectively in children presenting with unexplained SNHL to a multidisciplinary diagnostic outpatient otolaryngology clinic at an academic medical center in Minnesota. METHODS: Over a 4-year period, 57 patients with an age range of 3months to 10years with unexplained SNHL were recruited to participate in this study...
June 7, 2017: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/28624987/congenital-cytomegalovirus-infection-in-central-germany-an-underestimated-risk
#20
Hannah Rütten, Anke Rissmann, Birgit Brett, Serban-Dan Costa, Birgit Doßow, Jacqueline Färber, Stefan Fest, Christiane Fritzsch, Anke Lux, Ilona Päge, Claudia Spillner, Anke Redlich
PURPOSE: This is the first study to determine the cytomegalovirus (CMV) seronegativity rate for women of childbearing age in Saxony-Anhalt and to determine the prevalence of clinically relevant congenital CMV (cCMV) infection in Central Germany, because there are no valid data available. METHODS: The retrospective study was undertaken between January 2005 and December 2015. For the first time in Germany, the following seven data sources were used to analyze the prevalence of clinically relevant cCMV infection and the rate of CMV seronegative women of childbearing age: CMV Screening in maternity unit, University Women's Hospital, Social Paediatrics Centre (SPC), Malformation Monitoring Centre (MMC), Newborn Hearing Screening (NHS), Neonatal Intensive Care Unit (NICU), and In-house Doctor Department...
August 2017: Archives of Gynecology and Obstetrics
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