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congenital sensorineural hearing loss

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https://www.readbyqxmd.com/read/29054432/expression-pattern-of-eya4-in-the-common-marmoset-callithrix-jacchus-cochlea
#1
Saeko Matsuzaki, Makoto Hosoya, Hideyuki Okano, Masato Fujioka, Kaoru Ogawa
The eyes absent (EYA)-like genes are essential for the formation of sensory organs among fly (Drosophila melanogaster) and mammals. EYA4, one of the vertebrate genes of Eya family, is reported to be causative for late-onset mid-frequency sensorineural hearing loss in humans, while Eya4-deficient mice exhibited congenital profound deafness and otitis media with effusion due to the eustachian tube dysmorphology. Because of the species difference in the phenotype, the pathophysiology of EYA4 in the human cochlea has yet to be elucidated...
October 17, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29046308/progress-toward-development-of-a-vaccine-against-congenital-cytomegalovirus-infection
#2
Mark R Schleiss, Sallie R Permar, Stanley A Plotkin
A vaccine against congenital human cytomegalovirus (CMV) infection is a major public health priority. Congenital CMV causes substantial long-term morbidity in newborns, particularly sensorineural hearing loss (SNHL), and the public health impact of this infection on maternal and child health is under-recognized. Although progress toward development of a vaccine has been limited by an incomplete understanding of the correlates of protective immunity for the fetus, knowledge about some of the key components of the maternal immune response necessary for preventing trans-placental transmission is accumulating...
October 18, 2017: Clinical and Vaccine Immunology: CVI
https://www.readbyqxmd.com/read/29037160/-homozygous-and-compound-heterozygous-mutation-in-3-turkish-family-with-jervell-and-lange-nielsen-syndrome-case-reports
#3
Fahrettin Uysal, Burcu Turkgenc, Guven Toksoy, Ozlem M Bostan, Elif Evke, Oya Uyguner, Cengiz Yakicier, Hulya Kayserili, Ergun Cil, Sehime G Temel
BACKGROUND: Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous mutations in either the KCNQ1 or KCNE1 genes, additional mutations in other genetic loci should be considered, particularly in malignant course patients. CASE PRESENTATIONS: Three patients were admitted into hospital due to recurrent seizures/syncope, intrauterine and postnatal bradycardia respectively; moreover all three patients had congenital sensorineural hearing-loss...
October 16, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28990181/long-term-impairment-attributable-to-congenital-cytomegalovirus-infection-a-retrospective-cohort-study
#4
Marjolein J Korndewal, Anne Marie Oudesluys-Murphy, Aloys C M Kroes, Marianne A B van der Sande, Hester E de Melker, Ann C T M Vossen
AIM: This study aimed to estimate long-term impairment attributable to congenital cytomegalovirus infection (cCMV). METHOD: This nationwide cohort study retrospectively assessed cCMV in children born in 2008 in the Netherlands, testing 31 484 stored neonatal dried blood spots. Extensive medical data of cCMV-positive children (n=133) and matched cCMV-negative comparison children (n=274) up to 6 years of age were analysed. RESULTS: Moderate to severe long-term impairment was diagnosed in 24...
October 9, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28984810/strc-deletion-is-a-frequent-cause-of-slight-to-moderate-congenital-hearing-impairment-in-the-czech-republic
#5
Pavlina Plevova, Martina Paprskarova, Petra Tvrda, Petra Turska, Rastislav Slavkovsky, Eva Mrazkova
OBJECTIVE: This study aimed to clarify the molecular epidemiology of hearing loss by identifying the responsible genes in patients without GJB2 mutations. STUDY DESIGN: Prospective genetic study. SETTING: Tertiary referral hospital. PATIENTS: Fifty one patients with bilateral sensorineural hearing loss, 20 men, and 31 women, mean age 24.9 years, range 3 to 64 years, from 49 families. GJB2 and deltaGJB6-D13S1830 mutations were excluded previously...
October 4, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28980148/the-pathogenesis-of-microcephaly-resulting-from-congenital-infections-why-is-my-baby-s-head-so-small
#6
REVIEW
L D Frenkel, F Gomez, F Sabahi
The emergence of Zika-virus-associated congenital microcephaly has engendered renewed interest in the pathogenesis of microcephaly induced by infectious agents. Three of the original "TORCH" agents are associated with an appreciable incidence of congenital microcephaly: cytomegalovirus, rubella virus, and Toxoplasma gondii. The pathology of congenital microcephaly is characterized by neurotropic infectious agents that involve the fetal nervous system, leading to brain destruction with calcifications, microcephaly, sensorineural hearing loss, and ophthalmologic abnormalities...
October 5, 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/28964316/speech-processor-data-logging-helps-in-predicting-early-linguistic-outcomes-in-implanted-children
#7
Letizia Guerzoni, Domenico Cuda
OBJECTIVE: To analyse the value of listening-data logged in the speech processor on the prediction of the early auditory and linguistic skills in children who received a cochlear implant in their first 2 years of life. STUDY DESIGN: Prospective observational non-randomized study. METHODS: Ten children with profound congenital sensorineural hearing loss were included in the study. The mean age at CI activation was 16.9 months (SD ± 7.2; range 10-24)...
October 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28964291/hiv-status-and-hearing-loss-among-children-between-6-and-12-years-of-age-at-a-large-urban-health-facility-in-south-western-uganda
#8
Doreen Nakku, Victoria Nyaiteera, Evelyn Llowet, Dennis Nanseera, Gladys Nakalema, Brian Westerberg, Francis Bajunirwe
INTRODUCTION: Pediatric HIV infection and treatment may increase the risk for hearing loss (HL), both sensorineural (SNHL) and conductive hearing loss (CHL). There is limited data on this subject, especially from sub Saharan Africa. The aim of this study was therefore to compare the prevalence of hearing loss among HIV positive and negative children, to determine the types of hearing loss and whether Nevirapine (NVP) based antiretroviral therapy (ART) is associated with HL. METHODS: We conducted a cross sectional study at two tertiary health facilities in south western Uganda...
October 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28929065/the-use-of-lexical-neighborhood-test-lnt-in-the-assessment-of-speech-recognition-performance-of-cochlear-implantees-with-normal-and-malformed-cochlea
#9
Anjali R Kant, Arun A Banik
The present study aims to use the model-based test Lexical Neighborhood Test (LNT), to assess speech recognition performance in early and late implanted hearing impaired children with normal and malformed cochlea. The LNT was administered to 46 children with congenital (prelingual) bilateral severe-profound sensorineural hearing loss, using Nucleus 24 cochlear implant. The children were grouped into Group 1-(early implantees with normal cochlea-EI); n = 15, 31/2-61/2 years of age; mean age at implantation-3½ years...
September 2017: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/28904689/severe-neonatal-cytomegalovirus-infection-about-a-case
#10
Brahim El Hasbaoui, Amal Bousselamti, Mohammed Amine Redouani, Amina Barkat
Maternofoetal infection with Cytomegalovirus (CMV) is the most common congenital infection and a leading cause of mental retardation and sensori-neural hearing loss. Population-based studies indicate that at least 0.5% of all infants born alive have CMV of whom approximately 10% have clinically evident symptomsat birth. The Justification of systematic screening for foetal CMV infection is still controversial and is not recommended in most developed countries. This is mainly justified by the paucity of antenatal prognostic factors and the lack of established intrauterine treatment when foetal infection has been diagnosed...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28878610/a-novel-loss-of-function-mutation-in-hoxb1-associated-with-autosomal-recessive-hereditary-congenital-facial-palsy-in-a-large-iranian-family
#11
Mohammad Yahya Vahidi Mehrjardi, Reza Maroofian, Seyed M Kalantar, Mojtaba Jaafarinia, John Chilton, Mohammadreza Dehghani
Hereditary congenital facial palsy (HCFP) is a rare congenital cranial dysinnervation disorder, recognisable by non-progressive isolated facial nerve palsy (cranial nerve VII). It is caused by developmental abnormalities of the facial nerve nucleus and its nerve. So far, 4 homozygous mutations have been identified in 5 unrelated families (12 patients) with HCFP worldwide. In this study, a large Iranian consanguineous kindred with 5 members affected by HCFP underwent thorough clinical and genetic evaluation...
August 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28876493/hearing-and-neurodevelopmental-outcomes-for-children-with-asymptomatic-congenital-cytomegalovirus-infection-a-systematic-review
#12
REVIEW
Adam W Bartlett, Brendan McMullan, William D Rawlinson, Pamela Palasanthiran
INTRODUCTION: Congenital CMV is one of the commonest congenital infections and a recognised cause of sensorineural hearing loss and neurodevelopmental impairment. Ninety percent are clinically inapparent at birth but are reported to be at risk of developing such abnormalities throughout childhood, the extent of which requires further elucidation. METHODS: A systematic literature review was conducted using Medline and Embase databases, manual citation review, and personal libraries for articles reporting primary data on hearing and neurodevelopmental outcomes for children with asymptomatic congenital CMV...
September 6, 2017: Reviews in Medical Virology
https://www.readbyqxmd.com/read/28871934/diffuse-palmoplantar-keratoderma-onychodystrophy-universal-hypotrichosis-and-cysts
#13
Tasleem Arif, Syed Suhail Amin, Mohammad Adil, Mohd Mohtashim
Dear Editor, Clouston syndrome, also called hidrotic ectodermal dysplasia (HED), is an autosomal dominant ectodermal dysplasia characterized by a clinical triad of onychodystrophy, generalized hypotrichosis, and palmoplantar keratoderma (1). Herein we report the case of a 24-year-old male with the distinctive clinical triad associated with multiple epidermoid cysts, which probably reflects the phenotype of Clouston syndrome. A 24-year-old male presented to our Department with diffuse thickening of the skin of his palms and soles since infancy...
July 2017: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/28859161/natural-killer-cells-attenuate-cytomegalovirus-induced-hearing-loss-in-mice
#14
Ali A Almishaal, Pranav D Mathur, Elaine Hillas, Liting Chen, Anne Zhang, Jun Yang, Yong Wang, Wayne M Yokoyama, Matthew A Firpo, Albert H Park
Congenital cytomegalovirus (CMV) infection is the most common non-hereditary cause of sensorineural hearing loss (SNHL) yet the mechanisms of hearing loss remain obscure. Natural Killer (NK) cells play a critical role in regulating murine CMV infection via NK cell recognition of the Ly49H cell surface receptor of the viral-encoded m157 ligand expressed at the infected cell surface. This Ly49H NK receptor/m157 ligand interaction has been found to mediate host resistance to CMV in the spleen, and lung, but is much less effective in the liver, so it is not known if this interaction is important in the context of SNHL...
August 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28858892/evaluation-and-management-of-cytomegalovirus-associated-congenital-hearing-loss
#15
Allison M Dobbie
PURPOSE OF REVIEW: The current article reviews the current literature related to congenital cytomegalovirus (CMV)-related hearing loss. The discussion will focus on the epidemiology, pathogenesis, and clinical presentation of human CMV infection as it pertains to hearing loss. Current methods of CMV diagnosis with a focus on the evolving trend toward broader neonatal screening protocols will also be explored. Discussion of medical, surgical, and audiologic management of the condition will also be addressed...
August 30, 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/28857892/evaluation-and-management-of-cytomegalovirus-associated-congenital-hearing-loss
#16
Allison M Dobbie
PURPOSE OF REVIEW: The current article reviews the current literature related to congenital cytomegalovirus (CMV)-related hearing loss. The discussion will focus on the epidemiology, pathogenesis, and clinical presentation of human CMV infection as it pertains to hearing loss. Current methods of CMV diagnosis with a focus on the evolving trend toward broader neonatal screening protocols will also be explored. Discussion of medical, surgical, and audiologic management of the condition will also be addressed...
October 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/28840850/classification-and-current-management-of-inner-ear-malformations
#17
Levent Sennaroğlu, Münir Demir Bajin
Morphologically congenital sensorineural hearing loss can be investigated under two categories. The majority of congenital hearing loss causes (80%) are membranous malformations. Here, the pathology involves inner ear hair cells. There is no gross bony abnormality and, therefore, in these cases high-resolution computerized tomography and magnetic resonance imaging of the temporal bone reveal normal findings. The remaining 20% have various malformations involving the bony labyrinth and, therefore, can be radiologically demonstrated by computerized tomography and magnetic resonance imaging...
September 29, 2017: Balkan Medical Journal
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
#18
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/28794912/sensorineural-hearing-loss-in-a-patient-affected-by-congenital-cytomegalovirus-infection-is-it-useful-to-identify-comorbid-pathologies
#19
P Fontana, D Melis, A D'Amico, G Cappuccio, G Auletta, P Vassallo, R Genesio, L Nitsch, W Buffolano
Sensorineural hearing loss (SNHL) is a common defect with a multifactorial etiology. Congenital cytomegalovirus infection (cCMV) is the most common infectious cause, and its early detection allows a prompt pharmacological treatment that can improve hearing prognosis. In a consistent percentage of profound SNHL, genetic causes and/or inner ear malformations are involved; their prompt diagnosis might change therapeutic options. This study reports a case of a 3- year-old female patient with symptomatic cCMV infection who also exhibits developmental delay, dysmorphic facial features, bilateral hearing loss, and cochlear incomplete partition, type 2, in 7q21...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28733760/intrauterine-therapy-of-cytomegalovirus-infection-with-valganciclovir-review-of-the-literature
#20
REVIEW
Vera Seidel, Cornelia Feiterna-Sperling, Jan-Peter Siedentopf, Jörg Hofmann, Wolfgang Henrich, Christoph Bührer, Katharina Weizsäcker
Congenital cytomegalovirus (CMV) infection is the leading cause for sensorineural hearing loss and mental retardation in children without genetic diseases worldwide. There is little evidence guiding therapeutic strategies during pregnancy when intrauterine fetal CMV infection is confirmed. We provide a systematic review of the use of ganciclovir (GCV) or VGCV during pregnancy discussing safety of its use for mother and fetus and describe two cases of intrauterine therapy of fetal CMV infection with valganciclovir (VGCV)...
July 21, 2017: Medical Microbiology and Immunology
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