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congenital sensorineural hearing loss

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https://www.readbyqxmd.com/read/28332898/herpes-simplex-virus-1-and-cytomegalovirus-dnas-detection-in-the-inner-ear-of-implanted-patients-with-non-congenital-infection
#1
Walter Di Nardo, Roberta Anzivino, Paola Cattani, Rosaria Santangelo, Eugenio De Corso, Gaetano Paludetti
CONCLUSIONS: The detection of cytomegalovirus (CMV) and herpes simplex virus-1 (HSV-1) genome in perilymph of patients with negative serology or clinical history for congenital infections supports the hypothesis that Herpesviridae, even after acquired postnatal infections, could remain in latent phase in the spiral ganglion and damage the cochlea by a possible subsequent reactivation. Further studies are needed to identify the markers of such reactivation. OBJECTIVE: To identify the presence of certain viral species in the endolabyrinthic fluid of deaf patients with non-congenital infection...
March 23, 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/28322432/bilateral-congenital-deafness-what-investigations-should-be-performed
#2
Nicolas Gürtler, Claudine Gysin, Nevenka Schmid, Claudia Pieren, Mattheus Vischer, Stefan Schumacher, Peter Oppermann, Daniel Leuba, Dorothée Veraguth
BACKGROUND: The introduction of newborn hearing screening has led to earlier identification of children with congenital sensorineural hearing loss (SNHL). Aetiological clarification offers several benefits. There is currently a lack of agreement on which examinations should be recommended. OBJECTIVE: Descriptive review of the literature reporting investigations performed to establish the aetiology of congenital SNHL and comparison of the management policy in Swiss referral centres...
March 21, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28320335/mitochondrial-mutations-in-maternally-inherited-hearing-loss
#3
Hideki Mutai, Takahisa Watabe, Kenjiro Kosaki, Kaoru Ogawa, Tatsuo Matsunaga
BACKGROUND: Although the mitochondrial DNA (mtDNA) mutations m.1555A > G and m.3243A > G are the primary causes of maternally inherited sensorineural hearing loss (SNHL), several other mtDNA mutations are also reported to be associated with SNHL. METHODS: Screening of m.1555A > G and m.3243A > G mutations was performed for 145 probands. Nine probands fulfilled the following criteria: 1) bilateral and symmetric SNHL, 2) ≥ 4 family members with SNHL with a maternal trait of inheritance in ≥ 2 generations, 3) onset of SNHL before the age of 40 years, 4) high-frequency SNHL, and 5) no record of environmental factors related to SNHL...
March 20, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28302454/craniofacial-fibrous-dysplasia-a-10-case-series
#4
A Couturier, O Aumaître, L Gilain, B Jean, T Mom, M André
OBJECTIVES: Fibrous dysplasia of bone is a rare sporadic benign congenital condition in which normal cancellous bone is replaced by fibro-osseous tissue with immature osteogenesis. Sarcomatous transformation is exceptional. Lesions may involve one bone (monostotic) or several (polyostotic). Fibrous dysplasia may be associated with café-au-lait skin macules and endocrinopathy in McCune-Albright syndrome, or with myxoma in Mazabraud's syndrome. METHODS: We report ten cases of patients followed up for craniofacial fibrous dysplasia in our center between 2010 and 2015...
March 14, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/28302169/two-novel-lhx3-mutations-in-patients-with-combined-pituitary-hormone-deficiency-including-cervical-rigidity-and-sensorineural-hearing-loss
#5
Khushnooda Ramzan, Bassam Bin-Abbas, Lolwa Al-Jomaa, Rabab Allam, Mohammed Al-Owain, Faiqa Imtiaz
BACKGROUND: Congenital combined pituitary hormone deficiency (CPHD) is a rare heterogeneous group of conditions. CPHD-type 3 (CPHD3; MIM# 221750) is caused by recessive mutations in LHX3, a LIM-homeodomain transcription factor gene. The isoforms of LHX3 are critical for pituitary gland formation and specification of the anterior pituitary hormone-secreting cell types. They also play distinct roles in the development of neuroendocrine and auditory systems. CASE PRESENTATION: Here, we summarize the clinical, endocrinological, radiological and molecular features of three patients from two unrelated families...
March 16, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28291720/congenital-cytomegalovirus-infection-in-pregnancy-and-the-neonate-consensus-recommendations-for-prevention-diagnosis-and-therapy
#6
REVIEW
William D Rawlinson, Suresh B Boppana, Karen B Fowler, David W Kimberlin, Tiziana Lazzarotto, Sophie Alain, Kate Daly, Sara Doutré, Laura Gibson, Michelle L Giles, Janelle Greenlee, Stuart T Hamilton, Gail J Harrison, Lisa Hui, Cheryl A Jones, Pamela Palasanthiran, Mark R Schleiss, Antonia W Shand, Wendy J van Zuylen
Congenital cytomegalovirus is the most frequent, yet under-recognised, infectious cause of newborn malformation in developed countries. Despite its clinical and public health importance, questions remain regarding the best diagnostic methods for identifying maternal and neonatal infection, and regarding optimal prevention and therapeutic strategies for infected mothers and neonates. The absence of guidelines impairs global efforts to decrease the effect of congenital cytomegalovirus. Data in the literature suggest that congenital cytomegalovirus infection remains a research priority, but data are yet to be translated into clinical practice...
March 10, 2017: Lancet Infectious Diseases
https://www.readbyqxmd.com/read/28255465/altered-brain-functional-activity-in-infants-with-congenital-bilateral-severe-sensorineural-hearing-loss-a-resting-state-functional-mri-study-under-sedation
#7
Shuang Xia, TianBin Song, Jing Che, Qiang Li, Chao Chai, Meizhu Zheng, Wen Shen
Early hearing deprivation could affect the development of auditory, language, and vision ability. Insufficient or no stimulation of the auditory cortex during the sensitive periods of plasticity could affect the function of hearing, language, and vision development. Twenty-three infants with congenital severe sensorineural hearing loss (CSSHL) and 17 age and sex matched normal hearing subjects were recruited. The amplitude of low frequency fluctuations (ALFF) and regional homogeneity (ReHo) of the auditory, language, and vision related brain areas were compared between deaf infants and normal subjects...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/28237380/newborn-dried-blood-spot-polymerase-chain-reaction-to-identify-infants-with-congenital-cytomegalovirus-associated-sensorineural-hearing-loss
#8
Shannon A Ross, Amina Ahmed, April L Palmer, Marian G Michaels, Pablo J Sánchez, Audra Stewart, David I Bernstein, Kristina Feja, Karen B Fowler, Suresh B Boppana
OBJECTIVE: To determine the utility of dried blood spot (DBS) polymerase chain reaction (PCR) in identifying infants with cytomegalovirus (CMV) infection-associated sensorineural hearing loss (SNHL). STUDY DESIGN: Newborns at 7 US hospitals between March 2007 and March 2012 were screened for CMV by saliva rapid culture and/or PCR. Infected infants were monitored for SNHL during the first 4 years of life to determine sensitivity, specificity, and positive and negative likelihood ratios of DBS PCR for identifying CMV-associated SNHL...
February 22, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28222800/exome-sequencing-identifies-slc26a4-gjb2-scarb2-and-duox2-mutations-in-2-siblings-with-pendred-syndrome-in-a-malaysian-family
#9
Yock-Ping Chow, Nor Azian Abdul Murad, Zamzureena Mohd Rani, Jia-Shiun Khoo, Pei-Sin Chong, Loo-Ling Wu, Rahman Jamal
BACKGROUND: Pendred syndrome (PDS, MIM #274600) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss and goiter. In this study, we describing the possible PDS causal mutations in a Malaysian family with 2 daughters diagnosed with bilateral hearing loss and hypothyroidism. METHODS AND RESULTS: Whole exome sequencing was performed on 2 sisters with PDS and their unaffected parents. Our results showed that both sisters inherited monoallelic mutations in the 2 known PDS genes, SLC26A4 (ENST00000265715:c...
February 21, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28209771/hearing-loss-in-children-with-asymptomatic-congenital-cytomegalovirus-infection
#10
Tatiana M Lanzieri, Winnie Chung, Marily Flores, Peggy Blum, A Chantal Caviness, Stephanie R Bialek, Scott D Grosse, Jerry A Miller, Gail Demmler-Harrison
OBJECTIVES: To assess the prevalence, characteristics, and risk of sensorineural hearing loss (SNHL) in children with congenital cytomegalovirus infection identified through hospital-based newborn screening who were asymptomatic at birth compared with uninfected children. METHODS: We included 92 case-patients and 51 controls assessed by using auditory brainstem response and behavioral audiometry. We used Kaplan-Meier survival analysis to estimate the prevalence of SNHL, defined as ≥25 dB hearing level at any frequency and Cox proportional hazards regression analyses to compare SNHL risk between groups...
March 2017: Pediatrics
https://www.readbyqxmd.com/read/28167010/the-role-of-bone-conduction-hearing-aids-in-congenital-unilateral-hearing-loss-a-systematic-review
#11
REVIEW
C Carrie Liu, Devon Livingstone, Warren K Yunker
OBJECTIVES: To systematically review the literature on the audiological and/or quality of life benefits of a bone conduction hearing aid (BCHA) in children with congenital unilateral conductive or sensorineural deafness. METHODS: A systematic search was performed according to the PRISMA guidelines using the PubMed, Medline, and Embase databases. Data were collected on the following outcomes of interest: speech reception threshold, speech discrimination, sound localization, and quality of life measures...
March 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28151902/clinical-pathological-and-genetic-evaluations-of-chinese-patient-with-otodental-syndrome-and-multiple-complex-odontoma-case-report
#12
Anqi Liu, Meiling Wu, Xiaohe Guo, Hao Guo, Zhifei Zhou, Kewen Wei, Kun Xuan
Otodental syndrome is a rare autosomal-dominant disease characterized by globodontia, associated with sensorineural, high-frequency hearing loss. Here, we describe the clinical, pathological, and genetic evaluations of a 9-year-old girl with otodental syndrome and multiple complex odontoma.The patient presented with a draining sinus tract in her left cheek, globodontia, and hearing loss. The odontomas which caused the cutaneous sinus tracts were extracted because of the odontogenic infection. The extracted odontoma and primary tooth was studied by micro-CT and further observed histopathologically...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28143602/rubella-in-sub-saharan-africa-and-sensorineural-hearing-loss-a-case-control-study
#13
Cristina Caroça, Vera Vicente, Paula Campelo, Maria Chasqueira, Helena Caria, Susana Silva, Paulo Paixão, João Paço
BACKGROUND: Rubella infection can affect several organs and cause birth defects that are responsible for congenital rubella syndrome (CRS). Congenital hearing loss is the most common symptom of this syndrome, occurring in approximately 60% of CRS cases. Worldwide, over 100 000 babies are born with CRS every year. There is no specific treatment for rubella, but the disease is preventable by vaccination. Since 1969, the rubella vaccine has been implemented in many countries, but in Africa, only a few countries routinely immunize against rubella...
February 1, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28128317/a-de-novo-deletion-mutation-in-sox10-in-a-chinese-family-with-waardenburg-syndrome-type-4
#14
Xiong Wang, Yaowu Zhu, Na Shen, Jing Peng, Chunyu Wang, Haiyi Liu, Yanjun Lu
Waardenburg syndrome type 4 (WS4) or Waardenburg-Shah syndrome is a rare genetic disorder with a prevalence of <1/1,000,000 and characterized by the association of congenital sensorineural hearing loss, pigmentary abnormalities, and intestinal aganglionosis. There are three types of WS4 (WS4A-C) caused by mutations in endothelin receptor type B, endothelin 3, and SRY-box 10 (SOX10), respectively. This study investigated a genetic mutation in a Chinese family with one WS4 patient in order to improve genetic counselling...
January 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28119425/outcomes-from-a-hearing-targeted-cytomegalovirus-screening-program
#15
Marissa L Diener, Cathleen D Zick, Stephanie Browning McVicar, Jill Boettger, Albert H Park
BACKGROUND AND OBJECTIVES: Cytomegalovirus (CMV) is the most common congenital infection and nongenetic cause of congenital sensorineural hearing loss in the United States. Utah was the first state to pass legislation mandating CMV screening for newborns who fail newborn hearing screening (NBHS). The study objective was to present outcomes of hearing-targeted CMV screening and determine factors predicting CMV screening. METHODS: We used Utah Department of Health HiTrack and Vital Records databases to examine CMV screening from 509 infants who failed NBHS in the 24 months after implementation of the Utah legislation...
January 24, 2017: Pediatrics
https://www.readbyqxmd.com/read/28110288/screening-for-seemingly-healthy-newborns-with-congenital-cytomegalovirus-infection-by-quantitative-real-time-polymerase-chain-reaction-using-newborn-urine-an-observational-study
#16
Akira Yamaguchi, Tsutomu Oh-Ishi, Takashi Arai, Hideaki Sakata, Nodoka Adachi, Satoshi Asanuma, Eiji Oguma, Hirofumi Kimoto, Jiro Matsumoto, Hidetoshi Fujita, Tadashi Uesato, Jutaro Fujita, Ken Shirato, Hideki Ohno, Takako Kizaki
OBJECTIVE: Approximately 8-10% of newborns with asymptomatic congenital cytomegalovirus (cCMV) infection develop sensorineural hearing loss (SNHL). However, the relationship between CMV load, SNHL and central nervous system (CNS) damage in cCMV infection remains unclear. This study aimed to examine the relationship between urinary CMV load, SNHL and CNS damage in newborns with cCMV infection. STUDY DESIGN: The study included 23 368 newborns from two maternity hospitals in Saitama Prefecture, Japan...
January 20, 2017: BMJ Open
https://www.readbyqxmd.com/read/28109477/clinical-outcomes-following-cochlear-implantation-in-children-with-inner-ear-anomalies
#17
Amal Isaiah, Daniel Lee, Felicity Lenes-Voit, Melissa Sweeney, Walter Kutz, Brandon Isaacson, Peter Roland, Kenneth H Lee
OBJECTIVE: A significant proportion of children with congenital hearing loss who are candidates for cochlear implants (CIs) may have inner ear malformations (IEMs). Surgical and speech outcomes following CI in these children have not been widely reported. METHODS: The charts of children who were evaluated for a CI between 1/1/1986 and 12/31/2014 at a university-based tertiary level pediatric cochlear implant center were reviewed. Principal inclusion criteria included (i) age 1-18 years, (ii) history of bilateral severe to profound sensorineural hearing loss, and (iii) limited benefit from binaural amplification...
February 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28074379/neuroimaging-findings-of-congenital-zika-virus-infection-a-pictorial-essay
#18
Mohammad Zare Mehrjardi, Andrea Poretti, Thierry A G M Huisman, Heron Werner, Elham Keshavarz, Edward Araujo Júnior
Zika virus (ZIKV) is a mosquito-borne arbovirus from the Flaviviridae family. It had caused several epidemics since its discovery in 1947, but there was no significant attention to this virus until the recent outbreak in Brazil in 2015. The main concern is the causal relationship between prenatal ZIKV infection and congenital microcephaly, which has been confirmed recently. Moreover, ZIKV may cause other central nervous system abnormalities such as brain parenchymal atrophy with secondary ventriculomegaly, intracranial calcification, malformations of cortical development (such as polymicrogyria, and lissencephaly-pachygyria), agenesis/hypoplasia of the corpus callosum, cerebellar and brainstem hypoplasia, sensorineural hearing-loss, and ocular abnormalities as well as arthrogryposis in the infected fetuses...
March 2017: Japanese Journal of Radiology
https://www.readbyqxmd.com/read/28049114/a-targeted-approach-for-congenital-cytomegalovirus-screening-within-newborn-hearing-screening
#19
Karen B Fowler, Faye P McCollister, Diane L Sabo, Angela G Shoup, Kris E Owen, Julie L Woodruff, Edith Cox, Lisa S Mohamed, Daniel I Choo, Suresh B Boppana
BACKGROUND AND OBJECTIVE: Congenital cytomegalovirus (cCMV) infection remains a leading cause of childhood hearing loss. Currently universal CMV screening at birth does not exist in the United States. An alternative approach could be testing infants who do not pass their newborn hearing screening (NHS) for cCMV. This study was undertaken to evaluate whether a targeted approach will identify infants with CMV-related sensorineural hearing loss (SNHL). METHODS: Infants born at 7 US medical centers received NHS and were also screened for cCMV while in the newborn nursery...
February 2017: Pediatrics
https://www.readbyqxmd.com/read/28033698/balance-performance-of-deaf-children-with-and-without-cochlear-implants
#20
Amir-Abbas Ebrahimi, Guita Movallali, Ali-Ashraf Jamshidi, Hojjat Allah Haghgoo, Mehdi Rahgozar
 The aim of this study was to compare the static and dynamic balance performance of deaf children with and without cochlear implants. This is a cross-sectional study of 145 school children, aged between 7 and 12 years comprising 85 children with congenital or early acquired bilateral profound sensorineural hearing loss (the hearing loss group) and 60 normal hearing aged-matched control counterparts were assessed using the balance subtest of Bruininks-Oseretsky test of Motor Proficiency (BOTMP). The hearing loss group, 50 without cochlear implants (the non-implant group) and 35 of them with unilateral cochlear implants (the implant group) were recruited from schools for the deaf and normal hearing children (the control group) randomly selected from two randomly selected elementary schools of Tehran city...
November 2016: Acta Medica Iranica
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