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  1. Artikel ; Online: Risk Factors for Natural Hearing Evolution in Newborns With Congenital Cytomegalovirus Infection.

    De Cuyper, Elise / Acke, Frederic / Keymeulen, Annelies / De Leenheer, Els / Van Hoecke, Helen / Padalko, Elizaveta / Boudewyns, An / Gilles, Annick / Muylle, Marie / Kuhweide, Rudolf / Royackers, Liesbeth / Desloovere, Christian / Verstreken, Margriet / Schatteman, Isabelle / Dhooge, Ingeborg

    JAMA otolaryngology-- head & neck surgery

    2023  Band 150, Heft 1, Seite(n) 30–38

    Abstract: Importance: Congenital cytomegalovirus (cCMV) is the major cause of congenital nonhereditary sensorineural hearing loss in children. Currently, criteria to identify infants at increased risk for unfavorable hearing outcome are lacking.: Objective: To ...

    Abstract Importance: Congenital cytomegalovirus (cCMV) is the major cause of congenital nonhereditary sensorineural hearing loss in children. Currently, criteria to identify infants at increased risk for unfavorable hearing outcome are lacking.
    Objective: To identify risk factors associated with cCMV-related hearing improvement, hearing deterioration, and late-onset hearing loss.
    Design, setting, and participants: This multicenter cohort study included patients from 6 secondary and tertiary hospitals enrolled in the Flemish CMV registry (Belgium). Newborns with untreated cCMV infection with at least 4-year audiological follow-up were included. Patients who presented with other possible causes of sensorineural hearing loss were excluded. Data were collected for 15 years (January 1, 2007, to February 7, 2022) and analyzed from September 26, 2022, to January 16, 2023.
    Main outcomes and measures: Primary outcome was hearing evolution (per-ear analysis; described as stable hearing, improvement, or deterioration). The association of gestational characteristics, clinical findings, timing of seroconversion, viral load, and hearing status at birth with hearing evolution was investigated using effect sizes (Cramer V, odds ratio [OR], or Hedges g).
    Results: Of the 387 children, 205 of 385 with nonmissing data were male (53.2%), 113 (29.2%) had a symptomatic infection, and 274 (70.8%) had an asymptomatic infection. Every child was 4 years or older at final hearing evaluation. A total of 701 of 774 ears (90%) showed stable hearing (normal hearing or stable hearing loss since birth) over time. Late-onset hearing loss (normal hearing at birth followed by hearing loss) was present in 43 of 683 ears (6.3%). Among children with hearing loss present at birth, 24 of 34 ears (70.6%) had hearing deterioration, and 6 of 91 ears (6.6%) had hearing improvement. Prematurity was associated with a higher chance of hearing improvement (OR, 12.80; 95% CI, 2.03-80.68). Late-onset hearing loss was more prevalent in a first trimester infection (OR, 10.10; 95% CI, 2.90-34.48). None of the 104 ears of children with a third trimester seroconversion developed late-onset hearing loss.
    Conclusions and relevance: Findings of this cohort study support that ongoing audiological follow-up for untreated children with congenital hearing loss is important, as the majority of patients had hearing deterioration. The timing of seroconversion was associated with the risk of developing late-onset hearing loss. These insights can aid in parental counseling, patient stratification, and follow-up. Future research should focus on the effect of treatment, the influence of determined risk factors, and the study of eventual new risk factors in patients at high risk to develop hearing loss.
    Mesh-Begriff(e) Infant ; Child ; Infant, Newborn ; Humans ; Male ; Female ; Cohort Studies ; Cytomegalovirus Infections/complications ; Cytomegalovirus Infections/congenital ; Cytomegalovirus Infections/drug therapy ; Hearing ; Hearing Loss, Sensorineural/complications ; Risk Factors ; Hearing Loss/complications ; Deafness
    Sprache Englisch
    Erscheinungsdatum 2023-11-02
    Erscheinungsland United States
    Dokumenttyp Multicenter Study ; Journal Article
    ZDB-ID 2701825-8
    ISSN 2168-619X ; 2168-6181
    ISSN (online) 2168-619X
    ISSN 2168-6181
    DOI 10.1001/jamaoto.2023.3507
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment.

    Schrauwen, Isabelle / Liaqat, Khurram / Schatteman, Isabelle / Bharadwaj, Thashi / Nasir, Abdul / Acharya, Anushree / Ahmad, Wasim / Van Camp, Guy / Leal, Suzanne M

    Genes

    2020  Band 11, Heft 6

    Abstract: Congenital hearing impairment is a sensory disorder that is genetically highly heterogeneous. By performing exome sequencing in two families with congenital nonsyndromic profound sensorineural hearing loss (SNHL), we identified autosomal dominantly ... ...

    Abstract Congenital hearing impairment is a sensory disorder that is genetically highly heterogeneous. By performing exome sequencing in two families with congenital nonsyndromic profound sensorineural hearing loss (SNHL), we identified autosomal dominantly inherited missense variants [p.(Asn283Ser); p.(Thr116Ile)] in
    Mesh-Begriff(e) Animals ; Child, Preschool ; Exome/genetics ; Female ; Hearing Loss, Sensorineural/genetics ; Hearing Loss, Sensorineural/pathology ; Humans ; Kidney/metabolism ; Kidney/pathology ; Male ; Membrane Proteins/genetics ; Mutation, Missense/genetics ; Neoplasm Proteins/genetics ; Neural Crest/metabolism ; Pedigree ; Exome Sequencing ; Zebrafish/genetics
    Chemische Substanzen GREB1 protein, human ; Membrane Proteins ; Neoplasm Proteins
    Sprache Englisch
    Erscheinungsdatum 2020-06-23
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes11060687
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel: Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment

    Schrauwen, Isabelle / Liaqat, Khurram / Schatteman, Isabelle / Bharadwaj, Thashi / Nasir, Abdul / Acharya, Anushree / Ahmad, Wasim / Van Camp, Guy / Leal, Suzanne M

    Genes. 2020 June 23, v. 11, no. 6

    2020  

    Abstract: Congenital hearing impairment is a sensory disorder that is genetically highly heterogeneous. By performing exome sequencing in two families with congenital nonsyndromic profound sensorineural hearing loss (SNHL), we identified autosomal dominantly ... ...

    Abstract Congenital hearing impairment is a sensory disorder that is genetically highly heterogeneous. By performing exome sequencing in two families with congenital nonsyndromic profound sensorineural hearing loss (SNHL), we identified autosomal dominantly inherited missense variants [p.(Asn283Ser); p.(Thr116Ile)] in GREB1L, a neural crest regulatory molecule. The p.(Thr116Ile) variant was also associated with bilateral cochlear aplasia and cochlear nerve aplasia upon temporal bone imaging, an ultra-rare phenotype previously seen in patients with de novo GREB1L variants. An important role of GREB1L in normal ear development has also been demonstrated by greb1l⁻/⁻ zebrafish, which show an abnormal sensory epithelia innervation. Last, we performed a review of all disease-associated variation described in GREB1L, as it has also been implicated in renal, bladder and genital malformations. We show that the spectrum of features associated with GREB1L is broad, variable and with a high level of reduced penetrance, which is typically characteristic of neurocristopathies. So far, seven GREB1L variants (14%) have been associated with ear-related abnormalities. In conclusion, these results show that autosomal dominantly inherited variants in GREB1L cause profound SNHL. Furthermore, we provide an overview of the phenotypic spectrum associated with GREB1L variants and strengthen the evidence of the involvement of GREB1L in human hearing.
    Schlagwörter Danio rerio ; abnormal development ; bladder ; ears ; epithelium ; hearing ; hearing disorders ; humans ; image analysis ; inheritance (genetics) ; innervation ; nerve tissue ; neural crest ; patients ; penetrance ; phenotype ; sequence analysis
    Sprache Englisch
    Erscheinungsverlauf 2020-0623
    Erscheinungsort Multidisciplinary Digital Publishing Institute
    Dokumenttyp Artikel
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes11060687
    Datenquelle NAL Katalog (AGRICOLA)

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  4. Artikel ; Online: Risk Factors for Hearing Loss at Birth in Newborns With Congenital Cytomegalovirus Infection.

    De Cuyper, Elise / Acke, Frederic / Keymeulen, Annelies / De Leenheer, Els M R / Van Hoecke, Helen / Padalko, Elizaveta / Boudewyns, An / Gilles, Annick / Muylle, Marie / Kuhweide, Rudolf / Royackers, Liesbeth / Desloovere, Christian / Verstreken, Margriet / Schatteman, Isabelle / Dhooge, Ingeborg

    JAMA otolaryngology-- head & neck surgery

    2022  Band 149, Heft 2, Seite(n) 122–130

    Abstract: Importance: With a prevalence between 0.2% and 6.1% of all live births, congenital cytomegalovirus (cCMV) infection is a major cause of congenital nonhereditary sensorineural hearing loss. Despite the large amount of research on cCMV-related hearing ... ...

    Abstract Importance: With a prevalence between 0.2% and 6.1% of all live births, congenital cytomegalovirus (cCMV) infection is a major cause of congenital nonhereditary sensorineural hearing loss. Despite the large amount of research on cCMV-related hearing loss, it is still unclear which newborns are at risk of hearing loss.
    Objective: To identify independent risk factors for cCMV-related congenital hearing loss and predictors of hearing loss severity at birth.
    Design, setting, and participants: This cross-sectional study of newborns with cCMV infection used data included in the Flemish CMV registry that was collected from 6 secondary and tertiary hospitals in Flanders, Belgium, over 15 years (January 1, 2007, to February 7, 2022). Data were analyzed March 3 to October 19, 2022. Patients were included in the study after confirmed diagnosis of cCMV infection and known hearing status at birth. Patients who presented with other possible causes of sensorineural hearing loss were excluded.
    Main outcomes and measures: Primary outcome was hearing status at birth. Clinical, neurological, and laboratory findings along with the timing of seroconversion and blood viral load were separately considered as risk factors. Binary logistic regression was performed to identify independent risk factors for congenital hearing loss in newborns with cCMV. Effect sizes were measured using Hedges g, odds ratio, or Cramer V.
    Results: Of the 1033 newborns included in the study (553 of 1024 [54.0%] boys), 416 (40.3%) were diagnosed with symptomatic cCMV infection and 617 (59.7%) with asymptomatic cCMV infection. A total of 15.4% of the patients (n = 159) presented with congenital hearing loss; half of them (n = 80 [50.3%]) had isolated hearing loss. The regression model revealed 3 independent risk factors for congenital hearing loss: petechiae at birth (adjusted odds ratio [aOR], 6.7; 95% CI, 1.9-23.9), periventricular cysts on magnetic resonance imaging (MRI; aOR, 4.6; 95% CI, 1.5-14.1), and seroconversion in the first trimester (aOR, 3.1; 95% CI, 1.1-9.3). Lower viral loads were seen in patients with normal hearing compared with those with congenital hearing loss (median [IQR] viral load, 447.0 [39.3-2345.8] copies per milliliter of sample [copies/mL] vs 1349.5 [234.3-14 393.0] copies/mL; median difference, -397.0 [95% CI, -5058.0 to 174.0] copies/mL).
    Conclusions and relevance: Findings of this cross-sectional study suggest that newborns with cCMV infection and petechiae at birth, periventricular cysts on MRI, or a seroconversion in the first trimester had a higher risk of congenital hearing loss. Clinicians may use these risk factors to counsel parents in the prenatal and postnatal periods about the risk of congenital hearing loss. Moreover, linking clinical features to hearing loss may provide new insights into the pathogenesis of cCMV-related hearing loss. The importance of viral load as a risk factor for congenital hearing loss remains unclear.
    Mesh-Begriff(e) Male ; Pregnancy ; Female ; Infant, Newborn ; Humans ; Child ; Cross-Sectional Studies ; Cytomegalovirus Infections/complications ; Cytomegalovirus Infections/epidemiology ; Cytomegalovirus Infections/diagnosis ; Hearing Loss/complications ; Hearing Loss, Sensorineural/epidemiology ; Hearing Loss, Sensorineural/etiology ; Hearing Loss, Sensorineural/diagnosis ; Cytomegalovirus/isolation & purification ; Risk Factors ; Deafness ; Cysts/complications
    Sprache Englisch
    Erscheinungsdatum 2022-12-29
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2701825-8
    ISSN 2168-619X ; 2168-6181
    ISSN (online) 2168-619X
    ISSN 2168-6181
    DOI 10.1001/jamaoto.2022.4109
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel ; Online: A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis.

    Højland, Allan Thomas / Tavernier, Lisse J M / Schrauwen, Isabelle / Sommen, Manou / Topsakal, Vedat / Schatteman, Isabelle / Dhooge, Ingeborg / Huber, Alex / Zanetti, Diego / Kunst, Henricus P M / Hoischen, Alexander / Petersen, Michael B / Van Camp, Guy / Fransen, Erik

    Human genetics

    2021  Band 141, Heft 3-4, Seite(n) 951–963

    Abstract: In this study, we investigated the association of ACAN variants with otosclerosis, a frequent cause of hearing loss among young adults. We sequenced the coding, 5'-UTR and 3'-UTR regions of ACAN in 1497 unrelated otosclerosis cases and 1437 matched ... ...

    Abstract In this study, we investigated the association of ACAN variants with otosclerosis, a frequent cause of hearing loss among young adults. We sequenced the coding, 5'-UTR and 3'-UTR regions of ACAN in 1497 unrelated otosclerosis cases and 1437 matched controls from six different subpopulations. The association between variants in ACAN and the disease risk was tested through single variant and gene-based association tests. After correction for multiple testing, 14 variants were significantly associated with otosclerosis, ten of which represented independent association signals. Eight variants showed a consistent association across all subpopulations. Allelic odds ratios of the variants identified four predisposing and ten protective variants. Gene-based tests showed an association of very rare variants in the 3'-UTR with the phenotype. The associated exonic variants are all located in the CS domain of ACAN and include both protective and predisposing variants with a broad spectrum of effect sizes and population frequencies. This includes variants with strong effect size and low frequency, typical for monogenic diseases, to low effect size variants with high frequency, characteristic for common complex traits. This single-gene allelic spectrum with both protective and predisposing alleles is unique in the field of complex diseases. In conclusion, these findings are a significant advancement to the understanding of the etiology of otosclerosis.
    Mesh-Begriff(e) 3' Untranslated Regions ; 5' Untranslated Regions ; Aggrecans/genetics ; Disease Susceptibility ; Gene Frequency ; Genetic Predisposition to Disease ; Humans ; Otosclerosis/genetics ; Phenotype ; Polymorphism, Single Nucleotide
    Chemische Substanzen 3' Untranslated Regions ; 5' Untranslated Regions ; Aggrecans
    Sprache Englisch
    Erscheinungsdatum 2021-08-19
    Erscheinungsland Germany
    Dokumenttyp Journal Article
    ZDB-ID 223009-4
    ISSN 1432-1203 ; 0340-6717
    ISSN (online) 1432-1203
    ISSN 0340-6717
    DOI 10.1007/s00439-021-02334-8
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  6. Artikel ; Online: Congenital CMV-Associated Hearing Loss: Can Brain Imaging Predict Hearing Outcome?

    Craeghs, Laura / Goderis, Julie / Acke, Frederic / Keymeulen, Annelies / Smets, Koenraad / Van Hoecke, Helen / De Leenheer, Els / Boudewyns, An / Desloovere, Christian / Kuhweide, Rudolf / Muylle, Marie / Royackers, Liesbeth / Schatteman, Isabelle / Dhooge, Ingeborg

    Ear and hearing

    2020  Band 42, Heft 2, Seite(n) 373–380

    Abstract: Objectives: Congenital cytomegalovirus (cCMV) infection is the leading cause of nonhereditary sensorineural hearing loss in childhood and is also associated with CNS abnormalities. The main objective is to investigate the prognostic value of neonatal ... ...

    Abstract Objectives: Congenital cytomegalovirus (cCMV) infection is the leading cause of nonhereditary sensorineural hearing loss in childhood and is also associated with CNS abnormalities. The main objective is to investigate the prognostic value of neonatal cranial ultrasound (cUS) and cranial magnetic resonance imaging (cMRI) in predicting long-term hearing outcome in a large cohort of cCMV-infected symptomatic and asymptomatic patients.
    Design: Data were prospectively collected from a multicentre Flemish registry of children with cCMV infection born between 2007 and 2016. Neonatal cUS and cMRI scans were examined for lesions related to cCMV infection. Audiometric results at different time points were analyzed. The imaging and audiometric results were linked and diagnostic values of cUS and cMRI were calculated for the different hearing outcomes.
    Results: We were able to include 411 cCMV patients, of whom 40% was considered symptomatic at birth. Cranial ultrasound abnormalities associated with cCMV infection were found in 76 children (22.2% of the cUS scans), whereas cMRI revealed abnormalities in 74 patients (26.9% of the cMRI scans). A significant relation could be found between the presence of cUS or cMRI abnormalities and hearing loss at baseline and last follow-up. Cranial ultrasound and cMRI findings were not significantly correlated with the development of delayed-onset hearing loss. Specificity and sensitivity of an abnormal cUS to predict hearing loss at final follow-up were 84% and 43%, respectively compared with 78% and 39% for cMRI. Normal cUS and cMRI findings have a negative predictive value of 91% and 92%, respectively, for the development of delayed-onset hearing loss.
    Conclusions: Neuroimaging evidence of CNS involvement in the neonatal period is associated with the presence of hearing loss in children with a cCMV infection. Imaging abnormalities are not predictive for the development of delayed-onset hearing loss.
    Mesh-Begriff(e) Child ; Cytomegalovirus Infections/diagnostic imaging ; Hearing ; Hearing Loss/epidemiology ; Hearing Tests ; Humans ; Neuroimaging
    Sprache Englisch
    Erscheinungsdatum 2020-10-05
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 603093-2
    ISSN 1538-4667 ; 0196-0202
    ISSN (online) 1538-4667
    ISSN 0196-0202
    DOI 10.1097/AUD.0000000000000927
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  7. Artikel: Insufficient evidence for a role of SERPINF1 in otosclerosis

    Valgaeren, Hanne / Sommen, Manou / Beyens, Matthias / Vandeweyer, Geert / Schrauwen, Isabelle / Schepers, Anne / Schatteman, Isabelle / Topsakal, Vedat / Dhooge, Ingeborg / Kunst, Henricus / Zanetti, Diego / Huber, Alexander M / Hoischen, Alexander / Fransen, Erik / Van Camp, Guy

    Molecular genetics and genomics. 2019 Aug., v. 294, no. 4

    2019  

    Abstract: Otosclerosis is a common form of hearing loss (HL) due to abnormal remodeling of the otic capsule. The genetic causes of otosclerosis remain largely unidentified. Only mutations in a single gene, SERPINF1, were previously published in patients with ... ...

    Abstract Otosclerosis is a common form of hearing loss (HL) due to abnormal remodeling of the otic capsule. The genetic causes of otosclerosis remain largely unidentified. Only mutations in a single gene, SERPINF1, were previously published in patients with familial otosclerosis. To unravel the contribution of genetic variation in this gene to otosclerosis, this gene was re-sequenced in a large population of otosclerosis patients and controls. Resequencing of the 5′ and 3′ UTRs, coding regions, and exon–intron boundaries of SERPINF1 was performed in 1604 unrelated otosclerosis patients and 1538 unscreened controls, and in 62 large otosclerosis families. Our study showed no enrichment of rare variants, stratified by type, in SERPINF1 in patients versus controls. Furthermore, the c.392C > A (p.Ala131Asp) variant, previously reported as pathogenic, was identified in three patients and four controls, not replicating its pathogenic nature. We could also not find evidence for a pathogenic role in otosclerosis for 5′ UTR variants in the SERPINF1-012 transcript (ENST00000573763), described as the major transcript in human stapes. Furthermore, no rare variants were identified in the otosclerosis families. This study does not support a pathogenic role for variants in SERPINF1 as a cause of otosclerosis. Therefore, the etiology of the disease remains largely unknown and will undoubtedly be the focus of future studies.
    Schlagwörter etiology ; genes ; genetic variation ; genomics ; humans
    Sprache Englisch
    Erscheinungsverlauf 2019-08
    Umfang p. 1001-1006.
    Erscheinungsort Springer Berlin Heidelberg
    Dokumenttyp Artikel
    ISSN 1617-4615
    DOI 10.1007/s00438-019-01558-8
    Datenquelle NAL Katalog (AGRICOLA)

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  8. Artikel ; Online: Insufficient evidence for a role of SERPINF1 in otosclerosis.

    Valgaeren, Hanne / Sommen, Manou / Beyens, Matthias / Vandeweyer, Geert / Schrauwen, Isabelle / Schepers, Anne / Schatteman, Isabelle / Topsakal, Vedat / Dhooge, Ingeborg / Kunst, Henricus / Zanetti, Diego / Huber, Alexander M / Hoischen, Alexander / Fransen, Erik / Van Camp, Guy

    Molecular genetics and genomics : MGG

    2019  Band 294, Heft 4, Seite(n) 1001–1006

    Abstract: Otosclerosis is a common form of hearing loss (HL) due to abnormal remodeling of the otic capsule. The genetic causes of otosclerosis remain largely unidentified. Only mutations in a single gene, SERPINF1, were previously published in patients with ... ...

    Abstract Otosclerosis is a common form of hearing loss (HL) due to abnormal remodeling of the otic capsule. The genetic causes of otosclerosis remain largely unidentified. Only mutations in a single gene, SERPINF1, were previously published in patients with familial otosclerosis. To unravel the contribution of genetic variation in this gene to otosclerosis, this gene was re-sequenced in a large population of otosclerosis patients and controls. Resequencing of the 5' and 3' UTRs, coding regions, and exon-intron boundaries of SERPINF1 was performed in 1604 unrelated otosclerosis patients and 1538 unscreened controls, and in 62 large otosclerosis families. Our study showed no enrichment of rare variants, stratified by type, in SERPINF1 in patients versus controls. Furthermore, the c.392C > A (p.Ala131Asp) variant, previously reported as pathogenic, was identified in three patients and four controls, not replicating its pathogenic nature. We could also not find evidence for a pathogenic role in otosclerosis for 5' UTR variants in the SERPINF1-012 transcript (ENST00000573763), described as the major transcript in human stapes. Furthermore, no rare variants were identified in the otosclerosis families. This study does not support a pathogenic role for variants in SERPINF1 as a cause of otosclerosis. Therefore, the etiology of the disease remains largely unknown and will undoubtedly be the focus of future studies.
    Mesh-Begriff(e) 3' Untranslated Regions ; 5' Untranslated Regions ; Case-Control Studies ; Eye Proteins/genetics ; Female ; Humans ; Male ; Nerve Growth Factors/genetics ; Otosclerosis/genetics ; Pedigree ; Sequence Analysis, DNA/methods ; Serpins/genetics
    Chemische Substanzen 3' Untranslated Regions ; 5' Untranslated Regions ; Eye Proteins ; Nerve Growth Factors ; Serpins ; pigment epithelium-derived factor
    Sprache Englisch
    Erscheinungsdatum 2019-04-09
    Erscheinungsland Germany
    Dokumenttyp Journal Article
    ZDB-ID 2044817-X
    ISSN 1617-4623 ; 1617-4615
    ISSN (online) 1617-4623
    ISSN 1617-4615
    DOI 10.1007/s00438-019-01558-8
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  9. Artikel ; Online: Hearing in Children with Congenital Cytomegalovirus Infection: Results of a Longitudinal Study.

    Goderis, Julie / Keymeulen, Annelies / Smets, Koenraad / Van Hoecke, Helen / De Leenheer, Els / Boudewyns, An / Desloovere, Christian / Kuhweide, Rudolf / Muylle, Marie / Royackers, Liesbeth / Schatteman, Isabelle / Dhooge, Ingeborg

    The Journal of pediatrics

    2016  Band 172, Seite(n) 110–115.e2

    Abstract: Objectives: To evaluate hearing outcome, to characterize the nature of symptomatic and asymptomatic congenital cytomegalovirus (cCMV) infection and associated hearing loss, and to compare results with data from previous studies.: Study design: A ... ...

    Abstract Objectives: To evaluate hearing outcome, to characterize the nature of symptomatic and asymptomatic congenital cytomegalovirus (cCMV) infection and associated hearing loss, and to compare results with data from previous studies.
    Study design: A prospective multicenter registry was set up in 2007. Six centers participated in the development of a standardized protocol for diagnosis, treatment, and follow-up. Data were gathered in an online registry. Children (n = 379) with a documented cCMV infection and at least 2 separate audiologic evaluations were included. Audiometric results from a multicenter cohort study of children with cCMV infection with longitudinal observation were examined.
    Results: Results from 123 children with a symptomatic and 256 children with an asymptomatic cCMV infection were analyzed. In the group with symptomatic cCMV, 63% had hearing loss, compared with 8% in the group with asymptomatic cCMV. Delayed-onset hearing loss occurred in 10.6% of symptomatic cCMV and in 7.8% of asymptomatic cCMV. In the group with symptomatic cCMV, 29.3% of children used some kind of hearing amplification; 1.6% in the group with asymptomatic cCMV used hearing amplification.
    Conclusions: Symptomatic and asymptomatic cCMV infections are a major cause of hearing loss in childhood. Reliable estimates of the long-term outcome of cCMV infection are mandatory to increase vigilance, especially among pregnant women and to draw attention to preventive measures, vaccine development, and prenatal and postnatal therapy. Universal screening of newborns for cCMV infection should be initiated and combined with longitudinal audiometric follow-up.
    Mesh-Begriff(e) Child ; Child, Preschool ; Cytomegalovirus Infections/congenital ; Cytomegalovirus Infections/diagnosis ; Female ; Hearing/physiology ; Hearing Loss, Sensorineural/diagnosis ; Hearing Loss, Sensorineural/virology ; Hearing Tests/methods ; Humans ; Infant ; Infant, Newborn ; Longitudinal Studies ; Pregnancy ; Prospective Studies ; Registries
    Sprache Englisch
    Erscheinungsdatum 2016-05
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Multicenter Study
    ZDB-ID 3102-1
    ISSN 1097-6833 ; 0022-3476
    ISSN (online) 1097-6833
    ISSN 0022-3476
    DOI 10.1016/j.jpeds.2016.01.024
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  10. Artikel: Middle and inner ear malformations in velocardiofacial syndrome.

    Devriendt, Koenraad / Swillen, Ann / Schatteman, Isabelle / Lemmerling, Marc / Dhooge, Ingeborg

    American journal of medical genetics. Part A

    2004  Band 131, Heft 2, Seite(n) 225–226

    Mesh-Begriff(e) Child ; Chromosome Deletion ; Chromosomes, Human, Pair 2 ; Craniofacial Abnormalities ; Ear, Inner/abnormalities ; Ear, Middle/abnormalities ; Female ; Hearing Loss/genetics ; Heart Defects, Congenital ; Humans ; Syndrome
    Sprache Englisch
    Erscheinungsdatum 2004-09-23
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Comment ; Letter
    ZDB-ID 2108614-X
    ISSN 1552-4825
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.30326
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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