Leading Risk Factors for Congenital Deafness in the Context of Universal Neonatal Screening: Our Observations in a Four-Year Retrospective Study.

It has been demonstrated that universal hearing neonatal screening (UHNS) is efficient at providing early diagnosis and rehabilitation for deafness. The risk factors of deafness in children have been identified, but less specifically in those diagnosed after UHNS. In this study, we aim to study these factors in infants who were referred after screening and to compare our experience to recent data.

Congenital abnormalities associated with microtia: A 10-YEARS retrospective study.

Objective: Microtia is a congenital auricular malformation, often part of a syndromic form (35%-55% of cases). The accurate prevalence of associated malformations remains to be determined with regard to the heterogeneous results of the previous studies. This study aims to describe in a large population cohort the abnormalities associated with microtia and to determine the most suitable assessment for these children.

Desmoid-type fibromatosis of the head and neck in children: A changing situation.

Introduction: Desmoid-type fibromatosis (DF) is a rare benign lesion known for its local aggressiveness. The tumor management still remains under debate. Primary head and neck (HN), represents the second most prevalently affected sitein children with DF.

Rigid endoscope-assisted orotracheal intubation for vallecular cyst surgery in neonates and young infants.

Objectives: To investigate the outcomes of rigid endoscope-assisted orotracheal intubation (REI) in neonates and young infants with difficult airway conditions as an alternative intubation technique when more specific airway instruments are not available in most developing countries, and to evaluate the safety and advantages of this method.

Methods: Neonatal and young infantile patients undergoing vallecular cyst surgery with a Cormack-Lehane Grade 3 or 4 glottic view between June 2013 and June 2015 were studied. Fifteen patients were intubated using rigid endoscopic assistance.

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Leber congenital amaurosis (LCA) is a neurodegenerative disease of photoreceptor cells that causes blindness within the first year of life. It occasionally occurs in syndromic metabolic diseases and plurisystemic ciliopathies. Using exome sequencing in a multiplex family and three simplex case subjects with an atypical association of LCA with early-onset hearing loss, we identified two heterozygous mutations affecting Arg391 in β-tubulin 4B isotype-encoding (TUBB4B).

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Hearing loss and visual impairment in childhood have mostly genetic origins, some of them being related to sensorial neuronal defects. Here, we report on eight subjects from four independent families affected by auditory neuropathy and optic atrophy. Whole-exome sequencing revealed biallelic mutations in FDXR in affected subjects of each family.

Unilateral Sensorineural Hearing Loss: Medical Context and Etiology.

Objective: Unilateral sensorineural hearing loss (USNHL) is known to impact on school performance and social skills during childhood, but the etiologies remain unclear. The aim of this study was to assess various etiologies and to study the clinical contexts in this population.

Methods: The study is a retrospective review.

Efficiency of Melatonin as Compared to Pentobarbital for Audiometry Brainstem Response in Children With Associated Disorders.

Purpose: Outpatient pediatric audiometry brainstem response (ABR) uses various techniques (no drug, hydroxyzine, pentobarbital, melatonin). The aim of this study was to evaluate the efficiency of melatonin as compared to pentobarbital in children with associated disorders.

Method: This was a retrospective study that took place in a tertiary care center.