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Sökning: WFRF:(Elander Johanna) > (2020-2024) > Pathogenic mtDNA va...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00005550naa a2200529 4500
001oai:lup.lub.lu.se:bbdb4349-d3af-4390-ae08-f71682d49af7
003SwePub
008221128s2022 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/bbdb4349-d3af-4390-ae08-f71682d49af72 URI
0247 a https://doi.org/10.1016/j.ymgme.2022.09.0022 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Elander, Johannau Lund University,Lunds universitet,Öron-, näs- och halssjukdomar, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Otorhinolaryngology (Lund),Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital4 aut0 (Swepub:lu)jo1421el
2451 0a Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease
264 1b Elsevier BV,c 2022
300 a 9 s.
520 a In this retrospective cohort study of 193 consecutive subjects with primary mitochondrial disease (PMD) seen at the Children's Hospital of Philadelphia Mitochondrial Medicine Frontier Program, we assessed prevalence, severity, and time of onset of sensorineural hearing loss (SNHL) for PMD cases with different genetic etiologies. Subjects were grouped by genetic diagnosis: mitochondrial DNA (mtDNA) pathogenic variants, single large-scale mtDNA deletions (SLSMD), or nuclear DNA (nDNA) pathogenic variants. SNHL was audiometrically confirmed in 27% of PMD subjects (20% in mtDNA pathogenic variants, 58% in SLSMD and 25% in nDNA pathogenic variants). SLSMD had the highest odds ratio for SNHL. SNHL onset was post-lingual in 79% of PMD cases, interestingly including all cases with mtDNA pathogenic variants and SLSMD, which was significantly different from PMD cases caused by nDNA pathogenic variants. SNHL onset during school age was predominant in this patient population. Regular audiologic assessment is important for PMD patients, and PMD of mtDNA etiology should be considered as a differential diagnosis in pediatric patients and young adults with post-lingual SNHL onset, particularly in the setting of multi-system clinical involvement. Pathogenic mtDNA variants and SLSMD are less likely etiologies in subjects with congenital, pre-lingual onset SNHL.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Oto-rhino-laryngologi0 (SwePub)302182 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Otorhinolaryngology0 (SwePub)302182 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653 a Young Adult
653 a Humans
653 a Child
653 a DNA, Mitochondrial/genetics
653 a Retrospective Studies
653 a Mitochondrial Diseases/complications
653 a Hearing Loss, Sensorineural/genetics
653 a Mitochondria/genetics
7001 a McCormick, Elizabeth Mu The Children's Hospital of Philadelphia4 aut
7001 a Värendh, Mariau Lund University,Lunds universitet,Öron-, näs- och halssjukdomar, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Otorhinolaryngology (Lund),Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital4 aut0 (Swepub:lu)med-mvn
7001 a Stenfeldt, Karinu Lund University,Lunds universitet,Logopedi, foniatri och audiologi,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Öron-, näs- och halssjukdomar, Lund,Institutionen för kliniska vetenskaper, Lund,Logopedics, Phoniatrics and Audiology,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Otorhinolaryngology (Lund),Department of Clinical Sciences, Lund,Skåne University Hospital4 aut0 (Swepub:lu)med-ksf
7001 a Ganetzky, Rebecca Du The Children's Hospital of Philadelphia,University of Pennsylvania4 aut
7001 a Goldstein, Amyu The Children's Hospital of Philadelphia,University of Pennsylvania4 aut
7001 a Zolkipli-Cunningham, Zarazuelau The Children's Hospital of Philadelphia,University of Pennsylvania4 aut
7001 a MacMullen, Laura Eu The Children's Hospital of Philadelphia4 aut
7001 a Xiao, Ruiu The Children's Hospital of Philadelphia4 aut
7001 a Falk, Marni Ju The Children's Hospital of Philadelphia,University of Pennsylvania4 aut
7001 a Ehinger, Johannes Ku Lund University,Lunds universitet,Öron-, näs- och halssjukdomar, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Mitokondriell Medicin,Forskargrupper vid Lunds universitet,Otorhinolaryngology (Lund),Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Mitochondrial Medicine,Lund University Research Groups,Skåne University Hospital4 aut0 (Swepub:lu)med-jeg
7102 a Öron-, näs- och halssjukdomar, Lundb Sektion IV4 org
7730 t Molecular Genetics and Metabolismd : Elsevier BVg 137:3, s. 230-238q 137:3<230-238x 1096-7192
8564 u http://dx.doi.org/10.1016/j.ymgme.2022.09.002x freey FULLTEXT
8564 8u https://lup.lub.lu.se/record/bbdb4349-d3af-4390-ae08-f71682d49af7
8564 8u https://doi.org/10.1016/j.ymgme.2022.09.002

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