听力与言语-语言病理学

行为科学

医学伦理学

你正在浏览INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY期刊下所有文献
  • A novel mutation in the SLC26A4 gene in a Chinese family with non-syndromic hearing loss and enlarged vestibular aqueduct.

    abstract:OBJECTIVES:To identity the genetic causes of hearing loss in a Han Chinese family with enlarged vestibular aqueduct syndrome. METHODS:Multiplex PCR technology combined with Ion Torrent™ next-generation sequencing technology was used to search for pathogenic mutations. A group of 1500 ethnically-matched normal hearing ...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2018.01.037

    authors: Liang Y,Peng Q,Wang K,Zhu P,Wu C,Rao C,Chang J,Li S,Lu X

    更新日期:2018-04-01 00:00:00

  • Analysis of risk factors associated with unilateral hearing loss in children who initially passed newborn hearing screening.

    abstract:OBJECTIVE:To analyze 2007 Joint Committee on Infant Hearing (JCIH) risk factors in children with confirmed unilateral hearing loss (UHL) who initially passed newborn hearing screening. METHODS:Retrospective record review of 16,108 infants who passed newborn hearing screening but had one or more JCIH risk factors promp...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2018.01.024

    authors: Appelbaum EN,Howell JB,Chapman D,Pandya A,Dodson KM

    更新日期:2018-03-01 00:00:00

  • Outcomes of adenoidectomy-alone in patients less than 3-years old.

    abstract:OBJECTIVES:1. Determine the percentage of patients under the age of 3 undergoing adenoidectomy-alone who require subsequent management of residual sleep disordered breathing (SDB).2. Characterize complications following adenoidectomy and determine if any perioperative factors are associated with intra-operative or post...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.12.030

    authors: Thadikonda KM,Shaffer AD,Stapleton AL

    更新日期:2018-03-01 00:00:00

  • Microbiology and antibiotic therapy of subperiosteal orbital abscess in children with acute ethmoiditis.

    abstract:OBJECTIVE:The objective of this study was to investigate the microbiological cultures and the management of acute ethmoiditis complicated by subperiosteal orbital abscess (SPOA) in a pediatric population. METHODS:The medical records of children under 18 years old was performed in a tertiary referral pediatric center f...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2018.01.021

    authors: Coudert A,Ayari-Khalfallah S,Suy P,Truy E

    更新日期:2018-03-01 00:00:00

  • Reliability and validity of the Chinese pediatric voice handicap index.

    abstract:OBJECTIVES:To evaluate the reliability and validity of the Chinese version of pediatric voice handicap index (pVHI). MATERIAL AND METHODS:The original English version-pVHI was translated into Chinese. Parents of 52 children with voice dysphonia and 43 children with no history or symptoms of voice problems were asked t...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.12.018

    authors: Liu K,Liu S,Zhou Z,Ren Q,Zhong J,Luo R,Qin H,Zhang S,Ge P

    更新日期:2018-02-01 00:00:00

  • No evidence of cholesteatoma in untreated otitis media with effusion in children with primary ciliary dyskinesia.

    abstract:INTRODUCTION:Primary Ciliary Dyskinesia (PCD) describes a group of inherited disorders that result in abnormal ciliary motion leading to mucous stasis. Clinical features include almost universally otitis media with effusion (OME), particularly in infants. PCD patients provide us with a cohort of patients with OME that ...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.12.015

    authors: Ghedia R,Ahmed J,Navaratnam A,Harcourt J

    更新日期:2018-02-01 00:00:00

  • How does a bilingual environment affect the results in children with cochlear implants compared to monolingual-matched children? An Italian follow-up study.

    abstract:OBJECTIVES:To compare the results after cochlear implantation achieved by monolingual and bilingual deaf children implanted at our Institution, with the aim of understanding if there are any differences between the two groups and if there is a correlation between the outcomes and some patients' variables. METHODS:The ...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.12.006

    authors: Forli F,Giuntini G,Ciabotti A,Bruschini L,Löfkvist U,Berrettini S

    更新日期:2018-02-01 00:00:00

  • Readability of online patient education materials for velopharyngeal insufficiency.

    abstract:OBJECTIVE:Evaluate the readability of online and mobile application health information about velopharyngeal insufficiency (VPI). METHODS:Top website and mobile application results for search terms "velopharyngeal insufficiency", "velopharyngeal dysfunction", "VPI", and "VPD" were analyzed. Readability was determined u...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.09.016

    authors: Xie DX,Wang RY,Chinnadurai S

    更新日期:2018-01-01 00:00:00

  • Primary cervical leiomyoma: A rare cause of a posterior neck mass in a pediatric patient.

    abstract::A 13-year-old male presents for evaluation of a right-sided posterolateral neck mass, first noted four years prior to presentation; incisional biopsy two years ago suggested a benign lymph node. Recent growth and increased pain prompted referral to our tertiary care center. MR imaging revealed a densely calcified mass...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.11.015

    authors: Oliver JD,Anzalone CL,Balakrishnan K

    更新日期:2018-01-01 00:00:00

  • Postoperative bradycardia following adenotonsillectomy in children: Does intraoperative administration of dexmedetomidine play a role?

    abstract:INTRODUCTION:Dexmedetomidine is a novel pharmacologic agent that has become a frequently used adjunct during care of pediatric patients with obstructive sleep apnea (OSA) undergoing tonsillectomy. While generally safe and effective, dexmedetomidine is associated with adverse effects of hypotension and bradycardia from ...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.11.025

    authors: Bush B,Tobias JD,Lin C,Ruda J,Jatana KR,Essig G,Cooper J,Tumin D,Elmaraghy CA

    更新日期:2018-01-01 00:00:00

  • Revisits after pediatric tracheotomy: Airway concerns result in returns.

    abstract:OBJECTIVES:Children undergoing tracheotomy represent a medically vulnerable patient population, and understanding the reasons for revisiting the hospital setting following tracheotomy is critical for improving the quality of care for these patients. This study aims to investigate the incidence and characteristics of re...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.10.021

    authors: Shay S,Shapiro NL,Bhattacharyya N

    更新日期:2018-01-01 00:00:00

  • A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2).

    abstract::Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found in two deaf half-brothers from one Yakut family (Eastern Siberia, Russia) with identical inner ear abnormalities ("corkscrew" cochlea with an absence of modiolus) specific to X-linked deafness-2 (DFNX2). Comprehensive clinic...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.11.001

    authors: Barashkov NA,Klarov LA,Teryutin FM,Solovyev AV,Pshennikova VG,Konnikova EE,Romanov GP,Tobokhov AV,Morozov IV,Bondar AA,Posukh OL,Dzhemileva LU,Tomsky MI,Khusnutdinova EK,Fedorova SA

    更新日期:2018-01-01 00:00:00

  • Blood transfusion in children with sickle cell disease undergoing tonsillectomy.

    abstract:INTRODUCTION:Tonsillectomy is the second most common surgery in children with sickle cell disease. These children are at an increased risk of perioperative complications due to vaso-occlusive events. Although controversial, preoperative blood transfusions are sometimes given in an effort to prevent such complications. ...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.10.013

    authors: Atwood CM,Gnagi SH,Teufel RJ 2nd,Nguyen SA,White DR

    更新日期:2017-12-01 00:00:00

  • Post-tonsillectomy dietary advice and haemorrhage risk: Systematic review.

    abstract:OBJECTIVES:Tonsillectomy remains one of the commonest operations performed in children. Post-operative diet may affect post-tonsillectomy haemorrhage rate, although post-operative dietary advice varies. We undertook a systematic review of the published literature to assess if and how different post-operative diets were...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章,评审

    doi:10.1016/j.ijporl.2017.09.031

    authors: Bannister M,Thompson C

    更新日期:2017-12-01 00:00:00

  • Pain control following tonsillectomy in children: A survey of patients.

    abstract:OBJECTIVE:This prospective study aimed to survey pediatric patients and their parents after tonsillectomy to assess their pain management utilization and satisfaction. INTRODUCTION:Tonsillectomy is the second most common surgical procedure performed in pediatric patients. Postoperative recovery is often associated wit...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.10.016

    authors: Persino PR,Saleh L,Walner DL

    更新日期:2017-12-01 00:00:00

  • Evaluating the sinus and Nasal Quality of Life Survey in the pediatric cystic fibrosis patient population.

    abstract:INTRODUCTION:The Sinus and Nasal Quality of Life Survey (SN-5) is a validated quality of life (QOL) questionnaire for chronic rhinosinusitis in patients age 2-12. Its utility in the cystic fibrosis (CF) has been studied, but not yet validated. The purpose of this study is to determine the effectiveness of the SN-5 for ...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.09.014

    authors: Xie DX,Wu J,Kelly K,Brown RF,Shannon C,Virgin FW

    更新日期:2017-11-01 00:00:00

  • Pediatric tympanic membrane cholesteatoma: Systematic review and meta-analysis.

    abstract:INTRODUCTION:Tympanic membrane cholesteatoma (TMC) is a rare anomaly found in pediatric patients with no significant otologic history. Its pathogenesis appears distinct from congenital mesotympanic cholesteatoma. This systematic review and meta-analysis evaluates the management of TMC. METHODS:Two authors independentl...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章,meta分析,评审

    doi:10.1016/j.ijporl.2017.08.027

    authors: Ching HH,Spinner AG,Ng M

    更新日期:2017-11-01 00:00:00

  • Utility of screening questionnaire and polysomnography to predict postoperative outcomes in children.

    abstract:INTRODUCTION:The prevalence of pediatric obstructive sleep apnea (OSA) has increased concurrently with the increasing prevalence of obesity. We have previously validated a short questionnaire predicting the occurrence of OSA on polysomnography (PSG). This follow-up study assessed the utility of the questionnaire in pre...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 临床试验,杂志文章

    doi:10.1016/j.ijporl.2017.09.006

    authors: Kako H,Tripi J,Walia H,Tumin D,Splaingard M,Jatana KR,Tobias JD,Raman VT

    更新日期:2017-11-01 00:00:00

  • Pediatric neck abscesses: No increase in methicillin-resistant Staphylococcus aureus.

    abstract:INTRODUCTION:Recent studies from Western countries showed an increased incidence rate of methicillin-resistant Staphylococcus aureus (MRSA) isolated from pediatric neck abscesses cultures. We sought to examine the microbiology and antibiotic susceptibility of such samples over a 10-year period, and particularly of Stap...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.07.021

    authors: Fellner A,Marom T,Muallem-Kalmovich L,Shlamkovitch N,Eviatar E,Lazarovitch T,Pitaro J

    更新日期:2017-10-01 00:00:00

  • Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.

    abstract:OBJECTIVES:The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been reported to be the second most common contributor after those of GJB2 in many populations. METHODS:Whole exome sequencing and/or Sanger seque...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.08.006

    authors: Cengiz FB,Yilmazer R,Olgun L,Sennaroglu L,Kirazli T,Alper H,Olgun Y,Incesulu A,Atik T,Huesca-Hernandez F,Domínguez-Aburto J,González-Rosado G,Hernandez-Zamora E,Arenas-Sordo ML,Menendez I,Orhan KS,Avci H,Mahdieh N,Bon

    更新日期:2017-10-01 00:00:00

  • Anatomical measurement of the ossicles in patients with congenital aural atresia and stenosis.

    abstract:OBJECTIVES:Our aims were to measure and compare anatomical parameters of the ossicles in normal, congenital aural stenosis (CAS), and congenital aural atresia (CAA) ears. METHODS:This retrospective study was performed using three-dimensional reconstructed images derived from computed tomography scans of 20 normal subj...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.08.013

    authors: Li J,Chen K,Li C,Yin D,Zhang T,Dai P

    更新日期:2017-10-01 00:00:00

  • International Pediatric Otolaryngology Group: Consensus guidelines on the diagnosis and management of type I laryngeal clefts.

    abstract:INTRODUCTION:The diagnosis and management of type I laryngeal clefts can be controversial and varies across centers and surgeons. Using existing peer-reviewed literature to develop an expert-based consensus will help guide physicians in the treatment of these patients as well as develop research hypotheses to further s...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.07.016

    authors: Yeung JC,Balakrishnan K,Cheng ATL,Daniel SJ,Garabedian EN,Hart CK,Inglis AF Jr,Leboulanger N,Liming BJ,Moreddu E,Nicollas R,Russell JD,Rutter MJ,Sidell DR,Spratley J,Soma M,Thierry B,Thompson DM,Triglia JM,Watters K

    更新日期:2017-10-01 00:00:00

  • Resolution of bilateral sensorineural hearing loss following ventriculoperitoneal shunt and literature review.

    abstract:OBJECTIVE:The purpose of this study is to highlight the relationship between obstructive hydrocephalus, changes in intracranial pressure, and sensorineural hearing loss. METHODS:A case of a 10-month old infant with sensorineural hearing loss secondary to obstructive hydrocephalus is reported. A literature review, with...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章,评审

    doi:10.1016/j.ijporl.2017.06.034

    authors: Jamshidi A,Glidewell C,Murnick J,Magge S,Reilly BK

    更新日期:2017-09-01 00:00:00

  • A systematic review including an additional pediatric case report: Pediatric cases of mammary analogue secretory carcinoma.

    abstract:IMPORTANCE:Mammary Analogue Secretory Carcinoma (MASC) is a newly characterized salivary gland carcinoma resembling secretory carcinoma of the breast. Prior to being described, MASC was most commonly misdiagnosed as Acinic Cell Carcinoma. Though MASC is predominantly an adult neoplasm, cases have been reported in the p...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章,评审

    doi:10.1016/j.ijporl.2017.07.004

    authors: Ngouajio AL,Drejet SM,Phillips DR,Summerlin DJ,Dahl JP

    更新日期:2017-09-01 00:00:00

  • Can telemetry data obviate the need for sleep studies in Pierre Robin Sequence?

    abstract:OBJECTIVE:This study looks to correlate telemetry data gathered on patients with Pierre Robin Sequence (PRS) with sleep study data. Strong correlation might allow obstructive sleep apnea (OSA) to be reasonably predicted without the need for sleep study. METHODS:Charts from forty-six infants with PRS who presented to o...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.07.015

    authors: Aaronson NL,Jabbour N

    更新日期:2017-09-01 00:00:00

  • Pediatric head and neck bone sarcomas: An analysis of 204 cases.

    abstract:OBJECTIVES:To analyze the demographics, survival, and treatment efficacy of pediatric sarcomas of the facial skeleton and skull. METHODS:Retrospective study of cases from the US National Cancer Institute's Surveillance, Epidemiology, and End Results database. Pediatric patients between the ages of 0 and 18 diagnosed w...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.06.003

    authors: Brady JS,Chung SY,Marchiano E,Eloy JA,Baredes S,Park RCW

    更新日期:2017-09-01 00:00:00

  • A quality study of family-centered care coordination to improve care for children undergoing tracheostomy and the quality of life for their caregivers.

    abstract:IMPORTANCE:Approximately 4000 U.S. children undergo tracheostomy yearly [1], and these surgeries often result in hospital re-admissions that have definite cost and caregiver burdens due to complications that are avoidable with proper training and support. OBJECTIVE:To assess the impact of a Family-Centered Care Coordi...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.05.025

    authors: Hartnick C,Diercks G,De Guzman V,Hartnick E,Van Cleave J,Callans K

    更新日期:2017-08-01 00:00:00

  • Speech-evoked auditory brainstem responses in children with hearing loss.

    abstract:OBJECTIVE:The main objective of the present study was to investigate subcortical auditory processing in children with sensorineural hearing loss. METHODS:Auditory Brainstem Responses (ABRs) were recorded using click and speech/da/stimuli. Twenty-five children, aged 6-14 years old, participated in the study: 13 with no...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.05.010

    authors: Koravand A,Al Osman R,Rivest V,Poulin C

    更新日期:2017-08-01 00:00:00

  • Congenital nasal obstruction in infants: A retrospective study and literature review.

    abstract:OBJECTIVES:To identify etiologies of congenital nasal obstruction and describe clinical practice patterns in the evaluation, diagnosis, and treatment of symptomatic infants. METHODS:An electronic chart review from 1/1/2006-10/1/2016 for all patients with a diagnosis of nasal obstruction within the first six months of ...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章,评审

    doi:10.1016/j.ijporl.2017.05.023

    authors: Patel VA,Carr MM

    更新日期:2017-08-01 00:00:00

  • Polysomnography results versus clinical factors to predict post-operative respiratory complications following pediatric adenotonsillectomy.

    abstract:OBJECTIVE:Systematically review the published literature comparing the presence of clinical features (age, BMI, co-morbidities, etc.) versus polysomnogram (PSG) results in the prediction of major post-operative respiratory complications following pediatric adenotonsillectomy (T/A) for the treatment of Obstructive Sleep...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章,meta分析,评审

    doi:10.1016/j.ijporl.2017.05.004

    authors: Saur JS,Brietzke SE

    更新日期:2017-07-01 00:00:00

  • Mutation analysis of common GJB2, SCL26A4 and 12S rRNA genes among 380 deafness patients in northern China.

    abstract:OBJECTIVES:The molecular etiology of nonsyndromic deafness in Chinese population has not been investigated systematically, our study is aim to investigate the molecular etiology of nonsyndromic deafness patients from Northern China (Heilongjiang province), in order to provide genetic test and counseling to families. M...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.04.018

    authors: Pan J,Xu P,Tang W,Cui Z,Feng M,Wang C

    更新日期:2017-07-01 00:00:00

  • Lamotrigine induced lymphadenopathy: Case report and literature review.

    abstract::Lamotrigine is an anti-epileptic drug often prescribed to children and young females. Side effects include rash, dizziness and diplopia. Over the last twenty years, two cases of lymphadenopathy due to lamotrigine have been reported. We will present the case of a 17-year old female with persistent lymphadenopathy due t...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章,评审

    doi:10.1016/j.ijporl.2017.04.047

    authors: Pomeroy SJ,Ndikumana R,Cavanagh JP

    更新日期:2017-07-01 00:00:00

  • An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.

    abstract::Autosomal-recessive genes are responsible for about 80% of the hereditary non-syndromic hearing loss (NSHL) cases. In Iran, due to consanguineous marriages, NSHL is the second most frequent disability after intellectual disability, occurring one in 16 individuals. Enormous heterogeneity in the genetic pathology of hea...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章,评审

    doi:10.1016/j.ijporl.2017.04.007

    authors: Ghasemnejad T,Shekari Khaniani M,Zarei F,Farbodnia M,Mansoori Derakhshan S

    更新日期:2017-06-01 00:00:00

  • Changes in airway dimensions following functional appliances in growing patients with skeletal class II malocclusion: A systematic review and meta-analysis.

    abstract:OBJECTIVES:The purpose of the study was to evaluate the treatment effects of functional appliances (FAs) on upper airway dimensions in growing Class II patients with mandibular retrognathism. METHODS:Five databases and the references of identified articles were electronically searched for relevant studies that met our...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章,meta分析,评审

    doi:10.1016/j.ijporl.2017.04.009

    authors: Xiang M,Hu B,Liu Y,Sun J,Song J

    更新日期:2017-06-01 00:00:00

  • Management of non-organic hearing loss in children - A case study.

    abstract::A 10 year-old girl was admitted due to the claim of progressively developing hearing loss. The impedance audiometry showed no abnormalities but it was impossible to obtain reliable outcomes during pure tone audiometry assessment. The girl was additionally sent for speech audiometry, indicating a bilateral hearing loss...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.04.026

    authors: Skarzynski PH,Raj-Koziak D,Rajchel JJ,Skarzynski H

    更新日期:2017-06-01 00:00:00

  • Monophosphoryl lipid A enhances nontypeable Haemophilus influenzae-specific mucosal and systemic immune responses by intranasal immunization.

    abstract:OBJECTIVE:Acute otitis media (AOM) is one of the most common infectious diseases in children. Nontypeable Haemophilus influenzae (NTHi) is Gram-negative bacteria that are considered major pathogens of AOM and respiratory tract infections. In this study, we used monophosphoryl lipid A (MPL), a toll-like receptor (TLR) 4...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.03.018

    authors: Iwasaki T,Hirano T,Kodama S,Kadowaki Y,Moriyama M,Kawano T,Suzuki M

    更新日期:2017-06-01 00:00:00

  • SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis.

    abstract:BACKGROUND:Waardenburg syndrome (WS) is a neurocristopathy characterized by hearing impairment and pigmentary disturbances in hair, eyes, and skin. WS is clinically heterogeneous and can be subdivided into four major types (WS1-WS4) where WS4 or Shah-Waardenburg is diagnosed when WS2 is accompanied by Hirschsprung dise...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.03.016

    authors: Jalilian N,Tabatabaiefar MA,Alimadadi H,Noori-Daloii MR

    更新日期:2017-05-01 00:00:00

  • MYO15A splicing mutations in hearing loss: A review literature and report of a novel mutation.

    abstract::Sensorineural hearing loss (SNHL) is the most prevalent genetic sensory defect in humans, affecting about 1 in 1000 newborns around the world. Non-syndromic SNHL accounts for nearly 70% of hereditary hearing loss and 80% of SNHL cases show an autosomal recessive mode of inheritance (ARNSHL). In the present study, we a...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章,评审

    doi:10.1016/j.ijporl.2017.03.008

    authors: Motavaf M,Soveizi M,Maleki M,Mahdieh N

    更新日期:2017-05-01 00:00:00

  • Story retelling skills in Persian speaking hearing-impaired children.

    abstract:OBJECTIVES:Since the pragmatic skills of hearing-impaired Persian-speaking children have not yet been investigated particularly through story retelling, this study aimed to evaluate some pragmatic abilities of normal-hearing and hearing-impaired children using a story retelling test. METHODS:15 normal-hearing and 15 p...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2017.02.025

    authors: Jarollahi F,Mohamadi R,Modarresi Y,Agharasouli Z,Rahimzadeh S,Ahmadi T,Keyhani MR

    更新日期:2017-05-01 00:00:00

  • Clinical characterization of novel chromosome 22q13 microdeletions.

    abstract:INTRODUCTION:The advent of chromosome microarray analysis (CMA) for evaluation of patients with multiple congenital anomalies has made it possible to define chromosomal imbalances with greater precision and resolutions significantly smaller than possible by standard G-banded chromosome analysis. We describe two patient...

    journal_title:International journal of pediatric otorhinolaryngology

    pub_type: 杂志文章

    doi:10.1016/j.ijporl.2016.12.008

    authors: Ha JF,Ahmad A,Lesperance MM

    更新日期:2017-04-01 00:00:00

856 条记录 5/22 页 « 12345678...2122 »