Full Text Journal Articles by
Author Margaret Kenna

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Hearing Aid Use in Children With Unilateral Hearing Loss: A Randomized Crossover Clinical Trial.

Liliya Benchetrit, Matthew Stenerson, Evette A Ronner, Heidi J Leonard, Holle Aungst, Derek J Stiles, Patricia A Levesque, Margaret A Kenna, Samantha Anne, Michael S Cohen,

<h4>Objectives/hypothesis</h4>In children with mild to moderately severe unilateral hearing loss (UHL), assess whether subject-reported quality of life (QOL) and teacher- and parent-reported perception of listening difficulty are affected by use of a hearing aid (HA) with baseline accommodations, compared to children receiving only baseline accommodations.<h4>Study design</h4>Randomized crossover clinical trial.<h4>Methods</h4>Thirty-seven children ... Read more >>

Laryngoscope (The Laryngoscope)
[2021, :]

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Neuroimaging in Kabuki syndrome and another KMT2D-related disorder.

Rachel T Stadelmaier, Margaret A Kenna, Devon Barrett, Thomas E Mullen, Olaf Bodamer, Pankaj B Agrawal, Caroline D Robson, Monica H Wojcik,

Recognition of distinct phenotypic features is an important component of genetic diagnosis. Although CHARGE syndrome, Kabuki syndrome, and a recently delineated KMT2D Ex 38/39 allelic disorder exhibit significant overlap, differences on neuroimaging may help distinguish these conditions and guide genetic testing and variant interpretation. We present an infant clinically diagnosed ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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Hiding in plain sight: genetic deaf-blindness is not always Usher syndrome.

Genevieve Medina, Julia Perry, Andrea Oza, Margaret Kenna,

Hearing loss (HL) is the most common congenital sensory impairment. Usher syndrome (USH) is the leading genetic etiology of congenital deafness combined with progressive vision loss, and individuals presenting with these symptoms are often assumed to have USH. This can be an erroneous assumption, as there are additional genetic causes ... Read more >>

Cold Spring Harb Mol Case Stud (Cold Spring Harbor molecular case studies)
[2021, 7(4):]

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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

Mayher J Patel, Marina T DiStefano, Andrea M Oza, Madeline Y Hughes, Emma H Wilcox, Sarah E Hemphill, Brandon J Cushman, Andrew R Grant, Rebecca K Siegert, Jun Shen, Alex Chapin, Nicole J Boczek, Lisa A Schimmenti, Kiyomitsu Nara, Margaret Kenna, Hela Azaiez, Kevin T Booth, Karen B Avraham, Hannie Kremer, Andrew J Griffith, Heidi L Rehm, Sami S Amr, Ahmad N Abou Tayoun, ,

<h4>Purpose</h4>The ClinGen Variant Curation Expert Panels (VCEPs) provide disease-specific rules for accurate variant interpretation. Using the hearing loss-specific American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines, the Hearing Loss VCEP (HL VCEP) illustrates the utility of expert specifications in variant interpretation.<h4>Methods</h4>A total of 157 variants across ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2021, :]

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Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.

Sheng-Jia Lin, Barbara Vona, Patricia G Barbalho, Rauan Kaiyrzhanov, Reza Maroofian, Cassidy Petree, Mariasavina Severino, Valentina Stanley, Pratishtha Varshney, Paulina Bahena, Fatema Alzahrani, Amal Alhashem, Alistair T Pagnamenta, Gudrun Aubertin, Juvianee I Estrada-Veras, Héctor Adrián Díaz Hernández, Neda Mazaheri, Andrea Oza, Jenny Thies, Deborah L Renaud, Sanmati Dugad, Jennifer McEvoy, Tipu Sultan, Lynn S Pais, Brahim Tabarki, Daniel Villalobos-Ramirez, Aboulfazl Rad, , Hamid Galehdari, Farah Ashrafzadeh, Afsaneh Sahebzamani, Kolsoum Saeidi, Erin Torti, Houda Z Elloumi, Sara Mora, Timothy B Palculict, Hui Yang, Jonathan D Wren, Ben Fowler, Manali Joshi, Martine Behra, Shawn M Burgess, Swapan K Nath, Michael G Hanna, Margaret Kenna, J Lawrence Merritt, Henry Houlden, Ehsan Ghayoor Karimiani, Maha S Zaki, Thomas Haaf, Fowzan S Alkuraya, Joseph G Gleeson, Gaurav K Varshney,

<h4>Purpose</h4>Pathogenic variants in Lysyl-tRNA synthetase 1 (KARS1) have increasingly been recognized as a cause of early-onset complex neurological phenotypes. To advance the timely diagnosis of KARS1-related disorders, we sought to delineate its phenotype and generate a disease model to understand its function in vivo.<h4>Methods</h4>Through international collaboration, we identified 22 affected ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2021, 23(10):1933-1943]

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Pediatric Bilateral Sensorineural Hearing Loss: Minimum Test Battery and Referral Criteria for Cochlear Implant Candidacy Evaluation.

Samantha Anne, Kevin D Brown, Donald M Goldberg, Oliver F Adunka, Margaret Kenna, Wade Chien, Holly Teagle, Teresa A Zwolan, Sarah A Sydlowski, Patricia Roush, Craig A Buchman,

Among the various cochlear implant systems approved by the Food and Drug Administration, current labeling for pediatric usage encompasses (1) bilateral profound bilateral sensorineural hearing loss in children aged 9 to 24 months and bilateral severe to profound sensorineural hearing loss in children older than 2 years; (2) use of ... Read more >>

Otolaryngol Head Neck Surg (Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery)
[2021, :1945998211027352]

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Audiologic Phenotype and Progression in Pediatric STRC-Related Autosomal Recessive Hearing Loss.

Andrea Simi, Julia Perry, Emma Schindler, Andrea Oza, Minjie Luo, Tiffiney Hartman, Ian D Krantz, John A Germiller, Kosuke Kawai, Margaret Kenna,

<h4>Objectives</h4>Sensorineural hearing loss (SNHL) is a common sensory deficit affecting pediatric populations. The majority of pediatric SNHL is genetic in etiology, with over 123 identified nonsyndromic causative genes. One such gene is STRC, which has been identified as the second most frequent autosomal recessive nonsyndromic gene associated with SNHL in ... Read more >>

Laryngoscope (The Laryngoscope)
[2021, :]

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Just Do It-Everyone Should Follow the Guidelines.

Margaret A Kenna,

JAMA Otolaryngol Head Neck Surg (JAMA otolaryngology-- head & neck surgery)
[2021, 147(3):261-262]

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Dark-adapted threshold and electroretinogram for diagnosis of Usher syndrome.

Lucia Ambrosio, Ronald M Hansen, Anne Moskowitz, Andrea Oza, Devon Barrett, Juliana Manganella, Genevieve Medina, Kosuke Kawai, Anne B Fulton, Margaret Kenna,

<h4>Purpose</h4>To determine the utility of ophthalmology evaluation, dark-adapted threshold, and full-field electroretinogram for early detection of Usher syndrome in young patients with bilateral sensorineural hearing loss.<h4>Methods</h4>We identified 39 patients with secure genetic diagnoses of Usher Syndrome. Visual acuity, spherical equivalent, fundus appearance, dark-adapted threshold, and full-field electroretinogram results were summarized ... Read more >>

Doc Ophthalmol (Documenta ophthalmologica. Advances in ophthalmology)
[2021, 143(1):39-51]

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Review of Hearing Loss in Children-Reply.

Judith E C Lieu, Margaret Kenna, Samantha Anne,

JAMA (JAMA)
[2021, 325(12):1224-1225]

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A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.

Yoel Hirsch, Chayada Tangshewinsirikul, Kevin T Booth, Hela Azaiez, Devorah Yefet, Adina Quint, Tzvi Weiden, Zippora Brownstein, Michal Macarov, Bella Davidov, John Pappas, Rachel Rabin, Margaret A Kenna, Andrea M Oza, Katherine Lafferty, Sami S Amr, Heidi L Rehm, Diana L Kolbe, Kathy Frees, Carla Nishimura, Minjie Luo, Chantal Farra, Cynthia C Morton, Sholem Y Scher, Josef Ekstein, Karen B Avraham, Richard J H Smith, Jun Shen,

Nonsyndromic hearing loss is genetically heterogeneous. Despite comprehensive genetic testing, many cases remain unsolved because the clinical significance of identified variants is uncertain or because biallelic pathogenic variants are not identified for presumed autosomal recessive cases. Common synonymous variants are often disregarded. Determining the pathogenicity of synonymous variants may improve ... Read more >>

Eur J Hum Genet (European journal of human genetics : EJHG)
[2021, 29(6):988-997]

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Hearing Loss in Children: A Review.

Judith E C Lieu, Margaret Kenna, Samantha Anne, Lisa Davidson,

<h4>Importance</h4>Hearing loss in children is common and by age 18 years, affects nearly 1 of every 5 children. Without hearing rehabilitation, hearing loss can cause detrimental effects on speech, language, developmental, educational, and cognitive outcomes in children.<h4>Observations</h4>Consequences of hearing loss in children include worse outcomes in speech, language, education, social ... Read more >>

JAMA (JAMA)
[2020, 324(21):2195-2205]

Cited: 4 times

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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

Mayher Patel, Marina DiStefano, Andrea Oza, Madeline Hughes, Emma Wilcox, Sarah Hemphill, Brandon Cushman, Andrew Grant, Rebecca Siegert, Jun Shen, Alex Chapin, Nicole Boczek, Lisa Schimmenti, Kiyomitsu Nara, Margaret Kenna, Hela Azaiez, Kevin Booth, Andrew Griffith, Karen Avraham, Hannie Kremer, Heidi Rehm, Sami Amr, Ahmad Abou Tayoun, ,

<h4>Purpose</h4> The ClinGen Variant Curation Expert Panels (VCEPS) provide disease-specific rules for accurate variant interpretation. Using hearing loss-specific American College of Medical Genetics/Association for Molecular Pathology (HL-specific ACMG/AMP) guidelines, the ClinGen Hearing Loss VCEP (HL VCEP) illustrates the utility of expert specifications in resolving conflicting variant interpretations. <h4>Methods</h4> A total ... Read more >>

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Does Ibuprofen Increase Bleed Risk for Pediatric Tonsillectomy?

Peggy Leung, Elliana Kirsh DeVore, Kosuke Kawai, Sonia Yuen, Margaret Kenna, Alexandria L Irace, David Roberson, Eelam Adil,

<h4>Objective</h4>To evaluate risk factors for pediatric posttonsillectomy hemorrhage (PTH) and the need for transfusion using a national database.<h4>Study design</h4>Retrospective cohort study.<h4>Setting</h4>The study was conducted using the Pediatric Health Information System (PHIS) database.<h4>Methods</h4>Children ≤18 years who underwent tonsillectomy with or without adenoidectomy (T±A) between 2004 and 2015 were included. We evaluated ... Read more >>

Otolaryngol Head Neck Surg (Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery)
[2021, 165(1):187-196]

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Women in Otolaryngology: Experiences of Being Female in the Specialty.

Claire Lawlor, Kosuke Kawai, Lauren Tracy, Lindsay Sobin, Margaret Kenna,

<h4>Objectives</h4>A broad survey of women otolaryngologists on the current state of the field, including opportunities for advancement, support of family leave, and prevalence of harassment, has not been performed since 1998. An update on the experiences of female otolaryngologists is vital to continue to advance the specialty.<h4>Study design</h4>Anonymous web-based survey.<h4>Methods</h4>Survey ... Read more >>

Laryngoscope (The Laryngoscope)
[2021, 131(2):E380-E387]

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Validation of a Parent Proxy Quality-of-Life Measure for Young Children With Hearing Loss.

Cathy Y Yu, Donna B Jeffe, Margaret A Kenna, John A Germiller, Judith E C Lieu,

<h4>Objectives</h4>No hearing-related quality of life (QL) questionnaire currently exists for children < 7 years. This study aimed to develop and evaluate the construct validity and reliability of a new parent-proxy Preschool Hearing Environments and Reflection on Quality of Life (HEAR-QL) questionnaire.<h4>Methods</h4>Parents of children 2 to 6 years old with any hearing loss (HL) ... Read more >>

Laryngoscope (The Laryngoscope)
[2021, 131(3):663-670]

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Incidence, Time Course, and Implications of Electrode Abnormalities in Pediatric Cochlear Implant Recipients.

Jennifer M Harris, Marilyn W Neault, Elizabeth E O'Neill, Amanda M Griffin, Kosuke Kawai, Margaret A Kenna, Greg R Licameli,

<h4>Objectives</h4>To identify the incidence of specific abnormal impedance patterns or electrode faults, and determine their implication and significance, in a pediatric population of cochlear implant recipients.<h4>Design</h4>Nine hundred fifty-six cochlear implant devices (621 recipients) were included in this retrospective study. Devices were included if the implantation surgery was performed at our ... Read more >>

Ear Hear (Ear and hearing)
[2020, 42(2):334-342]

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Association of Blood Type With Postsurgical Mucosal Bleeding in Pediatric Patients Undergoing Tonsillectomy With or Without Adenoidectomy.

Natasha M Archer, Peter W Forbes, Jenna Dargie, Juliana Manganella, Greg R Licameli, Margaret A Kenna, Carlo Brugnara,

<h4>Importance</h4>Blood type (BT) O has been identified as a risk factor for bleeding complications, while non-O BTs may increase risk for thromboembolic events. Limited data are available in children undergoing tonsillectomy with or without adenoidectomy.<h4>Objective</h4>To determine whether BT O is associated with hemorrhage after tonsillectomy with or without adenoidectomy.<h4>Design, setting, ... Read more >>

JAMA Netw Open (JAMA network open)
[2020, 3(3):e201804]

Cited: 1 time

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Perspective on the Development of a Large-Scale Clinical Data Repository for Pediatric Hearing Research.

Jeffrey W Pennington, Byron Ruth, Jeffrey M Miller, Joy Peterson, Baichen Xu, Aaron J Masino, Ian Krantz, Juliana Manganella, Tamar Gomes, Derek Stiles, Margaret Kenna, Linda J Hood, John Germiller, E Bryan Crenshaw,

The use of "big data" for pediatric hearing research requires new approaches to both data collection and research methods. The widespread deployment of electronic health record systems creates new opportunities and corresponding challenges in the secondary use of large volumes of audiological and medical data. Opportunities include cost-effective hypothesis generation, ... Read more >>

Ear Hear (Ear and hearing)
[2020, 41(2):231-238]

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Torticollis in children with enlarged vestibular aqueducts.

Jacob R Brodsky, Karampreet Kaur, Talia Shoshany, Juliana Manganella, Devon Barrett, Kosuke Kawai, Makenzie Murray, Greg Licameli, Victoria Albano, Amanda Stolzer, Margaret Kenna,

OBJECTIVES:To evaluate the association between torticollis and enlarged vestibular aqueduct (EVA). METHODS:An online/phone survey was administered to parents of 133 children diagnosed with the following disorders: EVA, GJB2 (Connexin 26) mutations associated congenital hearing loss and epistaxis (control). The survey included questions regarding symptoms of torticollis, vertigo, and hearing loss. ... Read more >>

Int J Pediatr Otorhinolaryngol (International journal of pediatric otorhinolaryngology)
[2020, 131:109862]

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Preclinical testing of AAV9-PHP.B for transgene expression in the non-human primate cochlea.

Maryna V Ivanchenko, Killian S Hanlon, Maya K Devine, Kelly Tenneson, Frederick Emond, Jean-François Lafond, Margaret A Kenna, David P Corey, Casey A Maguire,

In a number of mouse models of hereditary deafness, therapeutic transgene delivery to the cochlea and vestibular organs using adeno-associated viral vectors (AAVs) has shown striking rescue of hearing and balance. However, only a subset of AAV capsids have shown efficacy in transducing both inner hair cells and outer hair ... Read more >>

Hear Res (Hearing research)
[2020, 394:107930]

Cited: 8 times

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Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.

Marina T DiStefano, Sarah E Hemphill, Andrea M Oza, Rebecca K Siegert, Andrew R Grant, Madeline Y Hughes, Brandon J Cushman, Hela Azaiez, Kevin T Booth, Alex Chapin, Hatice Duzkale, Tatsuo Matsunaga, Jun Shen, Wenying Zhang, Margaret Kenna, Lisa A Schimmenti, Mustafa Tekin, Heidi L Rehm, Ahmad N Abou Tayoun, Sami S Amr, ,

An amendment to this paper has been published and can be accessed via a link at the top of the paper. ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2019, 21(10):2409]

Cited: 1 time

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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

Jun Shen, Andrea M Oza, Ignacio Del Castillo, Hatice Duzkale, Tatsuo Matsunaga, Arti Pandya, Hyunseok P Kang, Rebecca Mar-Heyming, Saurav Guha, Krista Moyer, Christine Lo, Margaret Kenna, John J Alexander, Yan Zhang, Yoel Hirsch, Minjie Luo, Ye Cao, Kwong Wai Choy, Yen-Fu Cheng, Karen B Avraham, Xinhua Hu, Gema Garrido, Miguel A Moreno-Pelayo, John Greinwald, Kejian Zhang, Yukun Zeng, Zippora Brownstein, Lina Basel-Salmon, Bella Davidov, Moshe Frydman, Tzvi Weiden, Narasimhan Nagan, Alecia Willis, Sarah E Hemphill, Andrew R Grant, Rebecca K Siegert, Marina T DiStefano, Sami S Amr, Heidi L Rehm, Ahmad N Abou Tayoun, ,

<h4>Purpose</h4>Pathogenic variants in GJB2 are the most common cause of autosomal recessive sensorineural hearing loss. The classification of c.101T>C/p.Met34Thr and c.109G>A/p.Val37Ile in GJB2 are controversial. Therefore, an expert consensus is required for the interpretation of these two variants.<h4>Methods</h4>The ClinGen Hearing Loss Expert Panel collected published data and shared unpublished information ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2019, 21(11):2442-2452]

Cited: 11 times

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Genome Sequences of Six Cluster N Mycobacteriophages, Kevin1, Nenae, Parmesanjohn, ShrimpFriedEgg, Smurph, and SpongeBob, Isolated on Mycobacterium smegmatis mc2155.

Russell A Caratenuto, Grace O Ciabattoni, Nicolas J DesGranges, Cassidy L Drost, Longhui Gao, Brianna Gipson, Nicholas C Kahler, Nicole A Kirven, Julia C Melehani, Krishna Patel, Alecia B Rokes, Ryan A Seth, Matthew C West, Alexa A Alhout, Francis F Akoto, Nicole Capogna, Netta Cudkevich, Lee H Graham, Matthew S Grapel, Maaz M Haleem, Jamie B Korenberg, Brooke P Lichak, Lauren N McKinley, Kourtney R Mendello, Caitlin E Murphy, Lauren M Pyfer, Wascar A Ramirez, Julia R Reisner, Rachel H Swope, Matthew J Thoonkuzhy, Lauren A Vargas, Croldy A Veliz, Katherine R Volpe, Kevin D Zhang, Dylan Z Faltine-Gonzalez, Caitlin M Zuilkoski, Catherine M Mageeney, Hamidu T Mohammed, Margaret A Kenna, Vassie C Ware,

The annotation of six cluster N <i>Mycobacterium smegmatis</i> phages (Kevin1, Nenae, Parmesanjohn, ShrimpFriedEgg, Smurph, and SpongeBob) reveals regions of genomic diversity, particularly within the central region of the genome. The genome of Kevin1 includes two orphams (genes with no similarity to other phage genes), with one predicted to encode an ... Read more >>

Microbiol Resour Announc (Microbiology resource announcements)
[2019, 8(22):]

Cited: 1 time

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ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.

Marina T DiStefano, Sarah E Hemphill, Andrea M Oza, Rebecca K Siegert, Andrew R Grant, Madeline Y Hughes, Brandon J Cushman, Hela Azaiez, Kevin T Booth, Alex Chapin, Hatice Duzkale, Tatsuo Matsunaga, Jun Shen, Wenying Zhang, Margaret Kenna, Lisa A Schimmenti, Mustafa Tekin, Heidi L Rehm, Ahmad N Abou Tayoun, Sami S Amr, ,

<h4>Purpose</h4>Proper interpretation of genomic variants is critical to successful medical decision making based on genetic testing results. A fundamental prerequisite to accurate variant interpretation is the clear understanding of the clinical validity of gene-disease relationships. The Clinical Genome Resource (ClinGen) has developed a semiquantitative framework to assign clinical validity to ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2019, 21(10):2239-2247]

Cited: 26 times

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