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https://www.readbyqxmd.com/read/29447718/no-240-cytomegalovirus-infection-in-pregnancy
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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...
January 25, 2018: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/29372044/novel-frameshift-mutation-in-the-kcnq1-gene-responsible-for-jervell-and-lange-nielsen-syndrome
#8
Azam Amirian, Seyed Mohammad Dalili, Zahra Zafari, Siamak Saber, Morteza Karimipoor, Vahid Akbari, Amir Farjam Fazelifar, Sirous Zeinali
Objectives: Jervell and Lange-Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Materials and Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient and the family members were screened for mutations in KCNQ1 gene by linkage analysis and DNA sequencing...
January 2018: Iranian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/29335451/a-hot-spot-mutation-in-cdc42-p-tyr64cys-and-novel-phenotypes-in-the-third-patient-with-takenouchi-kosaki-syndrome
#9
Midori Motokawa, Satoshi Watanabe, Akiko Nakatomi, Tatsuro Kondoh, Tadashi Matsumoto, Kanako Morifuji, Hirotake Sawada, Toyoki Nishimura, Hiroyuki Nunoi, Koh-Ichiro Yoshiura, Hiroyuki Moriuchi, Sumito Dateki
Takenouchi-Kosaki syndrome (TKS) is a congenital malformation syndrome characterized by severe developmental delay, macrothrombocytopenia, camptodactyly, sensorineural hearing loss, and dysmorphic facial features. Recently, a heterozygous de novo mutation (p.Tyr64Cys) in the CDC42 gene, which encodes a key small GTP-binding protein of the Rho-subfamily, was identified in two unrelated patients with TKS. We herein report a third patient with TKS who had the same heterozygous CDC42 mutation. The phenotype of the patient was very similar to those of the two previously reported patients with TKS; however, she also demonstrated novel clinical manifestations, such as congenital hypothyroidism and immunological disturbance...
January 15, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29330883/genotype-phenotype-correlations-in-individuals-with-pathogenic-rere-variants
#10
Valerie K Jordan, Brieana Fregeau, Xiaoyan Ge, Jessica Giordano, Ronald J Wapner, Tugce B Balci, Melissa T Carter, John A Bernat, Amanda N Moccia, Anshika Srivastava, Donna M Martin, Stephanie L Bielas, John Pappas, Melissa D Svoboda, Marlène Rio, Nathalie Boddaert, Vincent Cantagrel, Andrea M Lewis, Fernando Scaglia, Jennefer N Kohler, Jonathan A Bernstein, Annika M Dries, Jill A Rosenfeld, Colette DeFilippo, Willa Thorson, Yaping Yang, Elliott H Sherr, Weimin Bi, Daryl A Scott
Heterozygous variants in the arginine-glutamic acid dipeptide repeats gene (RERE) have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). Here we report nine individuals with NEDBEH who carry partial deletions or deleterious sequence variants in RERE. These variants were found to be de novo in all cases in which parental samples were available. An analysis of data from individuals with NEDBEH suggests that point mutations affecting the Atrophin-1 domain of RERE are associated with an increased risk of structural eye defects, congenital heart defects, renal anomalies and sensorineural hearing loss when compared to loss-of-function variants that are likely to lead to haploinsufficiency...
January 13, 2018: Human Mutation
https://www.readbyqxmd.com/read/29287889/a-novel-mutation-of-the-eya4-gene-associated-with-post-lingual-hearing-loss-in-a-proband-is-co-segregating-with-a-novel-pax3-mutation-in-two-congenitally-deaf-family-members
#11
Federica Cesca, Elisa Bettella, Roberta Polli, Elona Cama, Pietro Scimemi, Rosamaria Santarelli, Alessandra Murgia
OBJECTIVES: This work was aimed at establishing the molecular etiology of hearing loss in a 9-year old girl with post-lingual non-syndromic mild sensorineural hearing loss with a complex family history of clinically heterogeneous deafness. METHODS: The proband's DNA was subjected to NGS analysis of a 59-targeted gene panel, with the use of the Ion Torrent PGM platform. Conventional Sanger sequencing was used for segregation analysis in all the affected relatives...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29281927/neonatal-screening-for-congenital-cmv-infection-stresses-the-importance-of-maternal-nonprimary-infection-even-in-an-area-where-prenatal-serology-testing-is-common
#12
Vassiliki Papaevangelou, Zoi Christoni, Christianna Vliora, Christine Kottaridi, Aikaterini Fotiou, Ariadne Malamitsi-Puchner, Andreas Mentis, Petros Karakitsos, Angeliki Syggelou
AIM AND METHODS: Dried blood spots from 2149 newborns were examined to diagnose congenital cytomegalovirus (cCMV). RESULTS: Prenatal CMV-IgG antibodies had been measured during prenatal care in 1287 (60.3%) of mothers and 980 (76.1%) of them were found seropositive. cCMV incidence was 0.47%. All newborns were asymptomatic; 9/10 were born post nonprimary maternal infection; two developed sensorineural hearing loss. CONCLUSIONS: In a country where prenatal CMV testing is common and therefore a false sense of control might prevail, nonprimary maternal infection should not be overlooked...
December 27, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29276601/delayed-diagnosis-of-a-patient-with-usher-syndrome-1c-in-a-louisiana-acadian-family-highlights-the-necessity-of-timely-genetic-testing-for-the-diagnosis-and-management-of-congenital-hearing-loss
#13
Ayesha Umrigar, Amanda Musso, Danielle Mercer, Annette Hurley, Cassondra Glausier, Mona Bakeer, Michael Marble, Chindo Hicks, Fern Tsien
Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families. Next-generation sequencing and diagnostic panels have become increasingly reliable and less expensive for clinical use. Despite these developments, the diagnosis of genetic sensorineural hearing loss still presents challenges for healthcare providers. Inherited sensorineural hearing loss has high levels of genetic heterogeneity and variable expressivity...
2017: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29246336/hearing-loss-after-cardiac-surgery-in-infancy-an-unintended-consequence-of-life-saving-care
#14
Madison A Grasty, Richard F Ittenbach, Carol Knightly, Cynthia B Solot, Marsha Gerdes, Judy C Bernbaum, Gil Wernovsky, Thomas L Spray, Susan C Nicolson, Robert R Clancy, Daniel J Licht, Elaine Zackai, J William Gaynor, Nancy B Burnham
OBJECTIVES: To investigate the prevalence of hearing loss after cardiac surgery in infancy, patient and operative factors associated with hearing loss, and the relationship of hearing loss to neurodevelopmental outcomes. STUDY DESIGN: Audiologic and neurodevelopmental evaluations were conducted on 348 children who underwent repair of congenital heart disease at the Children's Hospital of Philadelphia as part of a prospective study evaluating neurodevelopmental outcomes at 4 years of age...
January 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29238678/a-study-of-effect-of-consanguinity-on-cochlear-morphology-in-patients-with-congenital-bilateral-profound-sensorineural-hearing-loss
#15
Y Kavitha, K Sabarigirish, Upendra Kumar Joish, Sanjeev Saxena, Angshuman Dutta
Consanguinity has been considered as one of the risk factors predisposing to the development of congenital hearing loss. Effect of consanguinity on cochlear morphology has been subject of speculation, though many studies have provided insight into functional aspect of cochlea. This study was conducted to know the effect of consanguinity on cochlear morphology, if any. A prospective, observational study, including prelingually deaf children with bilateral profound sensorineural hearing loss who are registered as candidates for cochlear implantation at a tertiary care centre, was conducted...
December 2017: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/29234358/hearing-loss-screening-tool-cobra-score-for-newborns-in-primary-care-setting
#16
Watcharapol Poonual, Niramon Navacharoen, Jaran Kangsanarak, Sirianong Namwongprom, Surasak Saokaew
Purpose: To develop and evaluate a simple screening tool to assess hearing loss in newborns. A derived score was compared with the standard clinical practice tool. Methods: This cohort study was designed to screen the hearing of newborns using transiently evoked otoacoustic emission and auditory brain stem response, and to determine the risk factors associated with hearing loss of newborns in 3 tertiary hospitals in Northern Thailand. Data were prospectively collected from November 1, 2010 to May 31, 2012...
November 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29212424/surgical-complications-of-cochlear-implantation-in-a-tertiary-university-hospital
#17
Al Hussein Awad, Usama M Rashad, Nihal Gamal, Mostafa A Youssif
INTRODUCTION: Cochlear implantation remains a popular and effective therapy for patients with sensorineural hearing loss that not get benefit from conventional hearing aids Objective: To analyze the surgical complications obtained in patients that underwent cochlear implantation in a tertiary university hospital. MATERIALS AND METHODS: Retrospective analysis of the medical files of cochlear implant patients who underwent surgery at our institution between October 2014 and July 2016...
December 7, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/29200148/macrothrombocytopenia-with-congenital-bilateral-cataracts-a-phenotype-of-myh9-disorder-with-exon-24-indel-mutations
#18
Takahiro Aoki, Shinji Kunishima, Yoshiharu Yamashita, Kanshi Minamitani, Setsuo Ota
MYH9 disorder is characterized by large platelets and granulocyte inclusion bodies, and can be complicated with young-adult onsets of nephropathy, sensorineural hearing loss, and cataracts. Congenital cataracts in patients with MYH9 disorder is rare, and their etiology has not been elucidated. We report a 3-year-old patient with MYH9 disorder who had a p.E1066_A1072del mutation and developed cataracts congenitally. A review of the literature reveals that patients with an MYH9 exon 24 indel mutation, including p...
December 1, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29198720/mutations-in-tubb4b-cause-a-distinctive-sensorineural-disease
#19
Romain Luscan, Sabrina Mechaussier, Antoine Paul, Guoling Tian, Xavier Gérard, Sabine Defoort-Dellhemmes, Natalie Loundon, Isabelle Audo, Sophie Bonnin, Jean-François LeGargasson, Julien Dumont, Nicolas Goudin, Meriem Garfa-Traoré, Marc Bras, Aurore Pouliet, Bettina Bessières, Nathalie Boddaert, José-Alain Sahel, Stanislas Lyonnet, Josseline Kaplan, Nicholas J Cowan, Jean-Michel Rozet, Sandrine Marlin, Isabelle Perrault
Leber congenital amaurosis (LCA) is a neurodegenerative disease of photoreceptor cells that causes blindness within the first year of life. It occasionally occurs in syndromic metabolic diseases and plurisystemic ciliopathies. Using exome sequencing in a multiplex family and three simplex case subjects with an atypical association of LCA with early-onset hearing loss, we identified two heterozygous mutations affecting Arg391 in β-tubulin 4B isotype-encoding (TUBB4B). Inspection of the atomic structure of the microtubule (MT) protofilament reveals that the β-tubulin Arg391 residue contributes to a binding pocket that interacts with α-tubulin contained in the longitudinally adjacent αβ-heterodimer, consistent with a role in maintaining MT stability...
December 7, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29190488/the-effect-of-simulated-unilateral-hearing-loss-on-horizontal-sound-localization-accuracy-and-recognition-of-speech-in-spatially-separate-competing-speech
#20
Filip Asp, Anne-Marie Jakobsson, Erik Berninger
Unilateral hearing loss (UHL) occurs in 25% of cases of congenital sensorineural hearing loss. Due to the unilaterally reduced audibility associated with UHL, everyday demanding listening situations may be disrupted despite normal hearing in one ear. The aim of this study was to quantify acute changes in recognition of speech in spatially separate competing speech and sound localization accuracy, and relate those changes to two levels of temporary induced UHL (UHL30 and UHL43; suffixes denote the average hearing threshold across 0...
November 22, 2017: Hearing Research
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