Abstract:
OBJECTIVES:Although hearing loss is a well-known symptom of mitochondria-related disorders, it is not clear how often it is a congenital and cochlear impairment. The Newborn Hearing Screening Program (NHSP) enables to distinguish congenital cochlear deafness from an acquired hearing deficit. The initial aim of the study was to research the frequency of the congenital cochlear hearing loss among patients with various gene defects resulting in mitochondrial disorders. The research process brought on an additional gain: basing on our preliminary study group of 80 patients, in 12 patients altogether we identified two defected genes responsible for mitochondrial disorders, whose carriers did not pass the NHSP. Finally, these patients were diagnosed with the congenital cochlear deafness. MATERIAL AND METHODS:The results of the NHSP in the patients with mitochondrial disorders diagnosed in our tertiary reference center were analyzed. Only the cases with confirmed mutations were qualified for the study group. The NHSP database included 80 patients with mutations in 31 different genes: 25 nuclear-encoded and 6 mtDNA-encoded. We searched the literature for the presence of a congenital hearing impairment (CHI) in mitochondrial disorders caused by changes in 278 already known genes. RESULTS:For 68 patients from the study group the NHSP test indicated a proper cochlear function and thus suggested normal hearing. For 12 mitochondrial patients, the NHSP test indicated the requirement for the further audiological diagnosis, and finally CHI was confirmed in 8 of them. This latter subset included patients with pathogenic variants in RRM2B and SERAC1, known as "deafness-causing genes". Contrary to our initial expectations, the patients carrying mutations in other "deafness-causing genes": MPV17, POLG, COX10, as well as other mitochondria-related genes, all reported in literature, did not indicate any CHI following the NHSP test. CONCLUSION:Our study indicates that the cochlear CHI is a phenotypic feature of the RRM2B and SERAC1 related defects. The diagnosis of the CHI following the NHSP allows to early distinguish those defects from other mitochondria-related disorders in which the NHSP test result is correct. Wider studies are needed to assess the significance of this observation.
journal_name
Int J Pediatr Otorhinolaryngoljournal_title
International journal of pediatric otorhinolaryngologyauthors
Iwanicka-Pronicka K,Ciara E,Piekutowska-Abramczuk D,Halat P,Pajdowska M,Pronicki Mdoi
10.1016/j.ijporl.2019.03.015subject
Has Abstractpub_date
2019-06-01 00:00:00pages
143-149eissn
0165-5876issn
1872-8464pii
S0165-5876(19)30136-3journal_volume
121pub_type
杂志文章abstract:INTRODUCTION:Hearing loss in children is a common entity worldwide. We examined the prevalence and etiology of hearing loss among primary school children in Mbarara, Uganda. METHODS:Cross-sectional study in primary school children aged 5-14 was performed to determine the prevalence of hearing loss. Ugandan primary sch...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2015.10.044
更新日期:2015-12-01 00:00:00
abstract::During 1991-1999, in the Children's ENT Department of Warsaw Medical University, 39 polypectomies were performed. We analysed the histological structure of all polyps. The most common type of nasal polyp tissue in children was the inflammatory polyp (95% of cases). ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(01)00508-0
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abstract:OBJECTIVE:To evaluate the effect of nasal saline irrigation in the treatment of allergic rhinitis (AR) in children and to assess whether nasal saline irrigation could be used as a complementary therapy for AR in children in combination with the intranasal corticosteroids (INS). METHOD:In total, 61 children with AR wer...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,随机对照试验
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更新日期:2014-07-01 00:00:00
abstract:OBJECTIVES:To determine if children with recurrent croup (RC) and persistent laryngomalacia (LM) clinically improve after supraglottoplasty (SGP). MATERIAL AND METHODS:Retrospective chart review cohort at tertiary care children's hospital consisting of patients diagnosed with LM and RC that underwent SGP from July 201...
journal_title:International journal of pediatric otorhinolaryngology
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doi:10.1016/j.ijporl.2016.02.035
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abstract:OBJECTIVE:We report a rare, silent, potentially fatal operative complication of seven hour apnoea in a patient undergoing adenotonsillectomy secondary to deficiency of plasma cholinesterase. Awareness of this hereditary disorder is important to otolaryngologist as; it is difficult to diagnose, can be unexpectedly alarm...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,评审
doi:10.1016/j.ijporl.2011.10.010
更新日期:2012-01-01 00:00:00
abstract:OBJECTIVE:The relationship between bacterial flora of the adenoids and middle ear problems is unclear. In this study, superficial and deep aerobic and anaerobic bacterial flora of adenoid tissues were compared in children with and without chronic otitis media with effusion (cOME). PATIENTS AND METHODS:Between 2004 and...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2009.07.014
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abstract:OBJECTIVE:To describe and evaluate the medio-lateral graft tympanoplasty(1) for the reconstruction of anterior or subtotal tympanic membrane (TM) perforation and medial graft tympanoplasty for posterior TM perforation. METHODS:Retrospective study of 200 patients who underwent medio-lateral graft tympanoplasty (100 cas...
journal_title:International journal of pediatric otorhinolaryngology
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doi:10.1016/j.ijporl.2009.03.011
更新日期:2009-07-01 00:00:00
abstract:OBJECTIVE:Intubation has been associated with laryngeal injury that often resolves spontaneously without complication. We present a case of a child intubated for less than 48 hours, who presented with dysphonia and intermittent dyspnea two months after intubation due to epiglottic and vocal process granulomas. This is ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,评审
doi:10.1016/j.ijporl.2018.01.008
更新日期:2018-04-01 00:00:00
abstract::The case of a 3-month-old, prematurely born boy with auditory brainstem response (ABR), verified profound hearing loss and normal transitory evoked otoacoustic emission is presented. Isolated retrocochlear deafness which did not influence TEOAE is hypothesised as a possible cause. The critical evaluation of results wh...
journal_title:International journal of pediatric otorhinolaryngology
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doi:10.1016/0165-5876(93)90097-m
更新日期:1993-04-01 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(03)00188-5
更新日期:2003-10-01 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2010.01.019
更新日期:2010-05-01 00:00:00
abstract:OBJECTIVE:Two potent mediators of acute inflammation, histamine and leukotriene B4 (LTB4), have been shown to play important roles in the pathogenesis and clinical course of acute otitis media (AOM) in children. The purpose of this study was to evaluate the ability of adjuvant drugs, antihistamine and corticosteroid, i...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/s0165-5876(02)00372-5
更新日期:2003-03-01 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2008.10.005
更新日期:2009-02-01 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.ijporl.2013.08.018
更新日期:2013-11-01 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/0165-5876(95)01217-6
更新日期:1995-11-01 00:00:00
abstract::Among more than 10,000 mothers giving birth during 1974-1977, there were 20 known cases of severe placental insufficiency in connection with hypertensive disease during pregnancy. Well-documented signs of intrauterine hypoxia were observed in all the cases. In 50% of the fetuses intrauterine growth retardation was fou...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/0165-5876(82)90005-2
更新日期:1982-08-01 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(83)80007-x
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journal_title:International journal of pediatric otorhinolaryngology
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doi:10.1016/s0165-5876(02)00113-1
更新日期:2002-07-09 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
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doi:10.1016/j.ijporl.2014.02.002
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doi:10.1016/j.ijporl.2020.110468
更新日期:2020-12-01 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/0165-5876(96)01373-0
更新日期:1996-09-01 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/0165-5876(81)90033-1
更新日期:1981-04-01 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2014.08.006
更新日期:2014-11-01 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2020.110172
更新日期:2020-09-01 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(99)00207-4
更新日期:1999-08-20 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2010.06.009
更新日期:2010-09-01 00:00:00
abstract:OBJECTIVES:Although sickle cell disease is the most common of all hereditary disorders, there are a few publications about the effects of the disease on the functions of the ears, nose and throat. In this review, we present an overview of the clinical manifestations of sickle cell disease in general and highlight the p...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,评审
doi:10.1016/j.ijporl.2011.10.004
更新日期:2012-01-01 00:00:00
abstract:OBJECTIVE:To evaluate the usefulness of radiofrequency myringotomy (RFM) and the closure time of the myringotomy site in comparison to incisional myringotomy (IM). METHODS:We performed conventional surgical myringotomy on the right ears and RFM on the left ears of 40 rabbits. In order to investigate the effect of the ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2008.06.020
更新日期:2008-10-01 00:00:00
abstract:OBJECTIVE:To explore the differences in sensory processing between children with hearing impairments and children with normal hearing and the variables that influence sensory processing disorder (SPD). METHODS:The sensory processing abilities of 90 children were compared in three age-matched groups of 30, with cochlea...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2020.110154
更新日期:2020-09-01 00:00:00
abstract:OBJECTIVE:Is to evaluate the efficacy of tranexamic acid when applied locally in children after primary isolated adenoidectomy with respect to intra-operative blood loss and post-operative bleeding. STUDY DESIGN:Prospective, double-blind, randomized, controlled trial. SETTING:Otolaryngology department, Tanta Universi...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.ijporl.2013.04.021
更新日期:2013-07-01 00:00:00