surgical-treatment-of-an-endolymphatic-sac-tumor

Surgical Treatment of an Endolymphatic Sac Tumor

Endolymphatic sac tumors (ELST) are low-grade papillary adenocarcinoma originating from the endolymphatic sac. Usually slow-growing, with local ...

University of Pisa

Newborn hearing screening has to be considered the first step of a program for the identification, diagnosis, treatment and habilitation/rehabilitation of children with hearing impairment.

Newborn hearing screening protocol in tuscany region.

The aim of present study is to evaluate the impact of prognostic factors on the outcome in a group of prelingually hearing-impaired patients submitted to cochlear implantation (CI) at an adult age.

Cochlear implant in prelingually hearing-impaired adults: prognostic factors and results.

The importance of neonatal screening for congenital cytomegalovirus infection (cCMV) is widely shared in the world scientific literature. However, currently, no programs for universal neonatal screening for cCMV have been reported in the literature, and only a few experiences of hearing targeted cCMV screening have been published. In the Tuscany Region, Italy, screening for cCMV has been mandatory since 2008 for each newborn that result "refer" at the Transient Evoked Otoacoustics Emissions (TEOAE) test, and in our university hospital since 2012, it has been extended to some categories at risk of cCMV.

Extended-hearing targeted screening for congenital cytomegalovirus infection.

Perrault syndrome (PRLTS) is a rare autosomal recessive disorder characterised by ovarian failure in females and sensorineural hearing loss (SNHL) in both genders. In the present paper we describe a child affected by PRLTS3, due to CLPP homozygous mutations, presenting auditory neuropathy spectrum disorder (ANSD) with bilateral progressive SNHL. This is the first case reported in the literature of an ANSD in PRLTS3. CLPP is a nuclear encoded mitochondrial protease directed at the mitochondrial matrix. It is encoded on chromosome 19. This protease participates in mitochondrial protein quality control by degrading misfolded or damaged proteins, thus maintaining the normal metabolic function of the cell. In PRLTS3, the peptidase activity of CLPP is suppressed. Neurological impairments involved in PRLTS3 suggest that the pathogenic mutations in CLPP might trigger a mitochondrial dysfunction. A comprehensive description of the clinical and audiological presentation, as well as the issues related to cochlear implant (CI) procedure and the results, are addressed and discussed. A brief review of the literature on this topic is also provided.

A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review.

The Carina system (Cochlear Ltd., Sydney, Australia) is a totally implantable device providing acoustic amplification in adult patients with moderate-to-severe sensorineural or mixed hearing loss. One of the main concerns about such a totally implantable device has been represented by the subcutaneous battery lifespan. The aim of this article is to report the analysis of battery performances in a series of Carina-implanted patients after a long follow up.

Battery Lifespan of an Implantable Middle Ear Device.

: Otoferlin is a multi-C2 domain protein implicated in neurotransmitter-containing vesicle release and replenishment of the cochlear inner hair cell (IHC) synapses. Mutations in the OTOF gene have been associated with two different clinical phenotypes: a prelingual severe-to-profound sensorineural hearing loss (ANSD-DFNB9); and the peculiar temperature-sensitive auditory neuropathy (TS-ANSD), characterized by a baseline mild-to-moderate hearing threshold that worsens to severe-to-profound when the body temperature rises that returns to a baseline a few hours after the temperature has fallen again. The latter clinical phenotype has been described only with a few OTOF variants with an autosomal recessive biallelic pattern of inheritance. Case report: A 7-year-old boy presented a picture compatible with TS-ANSD exacerbated by febrile states or physical exercise with mild-to-moderate hearing loss at low and medium frequencies and a decrease in speech discrimination that worsened with an unfavorable speech-to-noise ratio. Otoacoustic emissions (OAEs) were present whereas auditory brainstem responses (ABRs) evoked by a click or tone-burst were generally absent. No inner ear malformations were described from the CT scan or MRI. Next-generation sequencing (NGS) of the known deafness genes and multi-phasic bioinformatic analyses of the data detected in OTOF a c.2521G>A missense variant and the deletion of 7.4 Kb, which was confirmed by array-comparative genomic hybridization (array-CGH). The proband's parents, who were asymptomatic, were tested by Sanger sequencing and the father presented the c.2521G>A missense variant. : The picture presented by the patient was compatible with OTOF-induced TS-ANSD. OTOF has been generally associated with an autosomal recessive biallelic pattern of inheritance; in this clinical report, two pathogenic variants never previously associated with TS-ANSD were described.

Article	Year
Newborn hearing screening protocol in tuscany region. Italian journal of pediatrics\| PubMed ID: 28931415	2017
Cochlear implant in prelingually hearing-impaired adults: prognostic factors and results. Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale\| PubMed ID: 34028463	2021
Extended-hearing targeted screening for congenital cytomegalovirus infection. Minerva pediatrics\| PubMed ID: 34056891	2021
A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review. Audiology research\| PubMed ID: 34842607	2021
Battery Lifespan of an Implantable Middle Ear Device. Audiology research\| PubMed ID: 36136856	2022
Temperature-Sensitive Auditory Neuropathy: Report of a Novel Variant of OTOF Gene and Review of Current Literature. Medicina (Kaunas, Lithuania)\| PubMed ID: 36837553	2023

Francesco Lazzerini

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