Sensorineural Hearing Loss in Patients With the m.1555A>G Mutation in the MTRNR1 Gene.

Objective: Mutations in the MTRNR1 gene of mitochondrial DNA are associated with non-syndromic hearing loss and increased susceptibility to aminoglycoside ototoxicity. The aim of our study was to determine the clinical characteristics of sensorineural hearing loss caused by the m.1555A>G mutation in MTRNR1.

Hearing loss secondary to variants in the OTOF gene.

Objective: Genetic variants in the OTOF gene are responsible for non-syndromic hearing loss with an autosomal recessive inheritance pattern. The objective of our work was to evaluate the clinical characteristics of patients with biallelic pathogenic variants in OTOF and their evolution after treatment.

Methods: A cohort of 124 patients with prelingual hearing loss, studied from 1996 to 2023, was included in this study.

[Increasing incidence of community-acquired pneumonia caused by atypical microorganisms].

Introduction: Knowing the most common microorganisms in our environment can help us to make proper empirical treatment decisions. The aim is to identify those microorganisms causing community-acquired pneumonia.

Patients And Methods: An observational, descriptive and prospective study was conducted, including patients over 14 years with a clinical and radiographic diagnosis of community-acquired pneumonia during a 383 consecutive day period.

[Prevalence of the A1555G MTDNA mutation in sporadic hearing-impaired patients without known history of aminoglycoside treatment].

Introduction: The A1555G mitochondrial DNA (mtDNA) mutation is responsible for maternally inherited non-syndromic hearing loss that is increased by aminoglycoside exposure. The objective of this study was to ascertain the frequency of the A1555G mutation among patients without family history of hearing loss or known exposition to aminoglycosides.

Methods: We screened for the mtDNA A1555G mutation in Spanish patients with sporadic sensorineural hearing impairment without a known family history of hearing loss or aminoglycoside exposition seen at the ENT Department in Sierrallana Hospital (Torrelavega, Cantabria, Spain) over a four-year period.

Unilateral submandibular gland aplasia with ipsilateral sublingual gland hypertrophy presenting as a neck mass.

The congenital absence of the major salivary glands is a very infrequent disorder, in which several glands are usually involved at the same time. Sometimes this disorder can be associated with other developmental anomalies. The unilateral aplasia of the submandibular gland is an extremely rare finding with only 14 cases reported in the literature.

[Open rhinolalia, a typical symptom of velo-cardio-facial syndrome].

The Velocardiofacial (VCF) syndrome is a relatively frequent cromosomopathy that usually associates various otorhinolaryngological features, as hipenasal speech, typical facies and auricular anomalies. We report a patient with VCF syndrome that before being diagnosed had undergone adenoidectomy with a postoperative worsening in speech. Otorhinolaryngological clinical features of the VCF syndrome are discussed and a diagnostic protocol is proposed to achieve an early diagnosis and to prevent iatrogenic interventions in these patients.

[Auditory neuropathy due to the Q829X mutation in the gene encoding otoferlin (OTOF) in an infant screened for newborn hearing impairment].

We report an infant with auditory neuropathy secondary to the Q829X mutation in the gene encoding otoferlin (OTOF). Included in a universal newborn hearing screening program, the subject passed the otoacoustic emission (OAEs) test. Given that the infant had a familial history of deafness auditory brainstem response (ABR) testing was performed, revealing a profound hearing impairment.

[Sensorineural hearing loss in cerebral palsy patients].

Introduction: Cerebral palsy (CP) is the most common chronic motor disorder in children and frequently associates sensorial pathology. The objective of our study was to establish the prevalence and characteristics of sensorineural hearing loss in children with CP.

Methods: We performed a retrospective study of patients born between the years 1975 and 2004, diagnosed of CP in the "Marqués de Valdecilla" University Hospital.

[Otorhinolaryngo logical manifestations in patients with Down syndrome].

Objective: The objective [corrected] of our study was to assess the most frequent otorhinolaryngological manifestations in patients with Down syndrome, and to propose diagnostic and management guidelines to improve their quality of life.

Methods: Patients with Down's syndrome referred to the ENT Department of two Spanish Hospitals during a 4-year period were retrospectively reviewed. Data of the following variables were collected: main symptoms, diagnosis, comorbidities, surgical procedures, and complications.

[Vestibular drop attacks or Tumarkin's otolithic crisis in patients with Meniere's disease].

Introduction: Drop attacks (DA) are a sudden fall that comes without warning and without loss of consciousness, with no associated neurological symptoms and normal neurological examination. A certain number of patients with Meniere's disease, develop Tumarkin's otolithic crisis or DA. The purpose of this study is to document the frequency and clinical features of DA in patients with Meniere's disease.

[Prevalence of the 35delG mutation in the GJB2 gene, del (GJB6-D13S1830) in the GJB6 gene, Q829X in the OTOF gene and A1555G in the mitochondrial 12S rRNA gene in subjects with non-syndromic sensorineural hearing impairment of congenital/childhood onset].

Introduction: The most frequent mutations responsible for non-syndromic hearing impairment in the Spanish population are the 35delG mutation in the connexin 26 gene (GJB2), the del(GJB6-D13S1830) deletion in the connexin 30 gene (GJB6), the Q829X mutation in the otoferlin gene (OTOF), and the A1555G mutation in the 12S rRNA gene of the mitochondrial genome.

Patients And Methods: Screening for these mutations was performed on 38 patients from Cantabria with non-syndromic sensorineural hearing impairment of congenital/childhood onset.

Results: The A1555G mutation was detected in homoplasmy in 9 patients (23.

[Etiology of severe/profound, pre/perilingual bilateral hearing loss in Cantabria (Spain)].

Objective: To know the etiology of preiperlingual bilateral hearing loss in children.

Materials And Methods: All the patients diagnosed with bilateral severe/profound, pre or perilingual hearing loss at Sierrallana and Marqués de Valdecilla Hospitals (Cantabria, Spain) during the last 20 years were included in this study.

Results: A hundred patients were diagnosed with bilateral severe/profound pre/perilingual hearing loss.

[Prevalence of the A1555G mutation in the mitochondrial DNA in patients with cochlear or vestibular damage due to aminoglycoside-induced ototoxicity].

Objective: To determine the frequency of the A1555G mutation in the mitochondrial genome among Spanish patients with aminoglycoside-induced ototoxicity.

Patients And Methods: We screened 25 unrelated cases, totalling 39 individuals with cochlear or vestibular damage due to aminoglycoside-induced ototoxicity. This group was made up of 18 subjects from 4 unrelated families with a history of aminoglycoside ototoxicity in more than one relative, 8 subjects from 8 families that also had other relatives with hearing loss in absence of aminoglycoside exposure, and 13 sporadic cases.

[Evaluation of a family with sensorineural hearing loss due to the Q829X mutation in the OTOF gene].

Objective: To determine the features of hearing loss due to the Q829X mutation in the OTOF gene, the third most frequent mutation causing prelingual deafness reported so far in the Spanish population.

Materials And Methods: We carried out genetic characterisation of 16 individuals from a consanguineous family from Cantabria, in which 4 members were affected by deafness.

Results: All 4 hearing impaired individuals were homozygous for the Q829X mutation in the OTOF gene.

[Induction chemotherapy using vinorelbine, cisplatin, and UFT in advanced pharyngeo-laryngeal carcinomas: results of a phase II study].

Objective: To evaluate the results of an induction chemotherapy protocol with Vinorelbine, UFT and Cisplatin (UFTVP).

Methods: 93 patients with laryngo-pharyngeal squamous cell carcinoma in stage III or IV were prospectively entered into a protocol to receive four cycles of UFTVP. Responders followed definitive radiation therapy.

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

Inherited hearing impairment affects one in 2,000 newborns. Nonsyndromic prelingual forms are inherited mainly as autosomal recessive traits, for which 16 genes are currently known. Mutations in the genes encoding connexins 26 and 30 account for up to 50% of these cases.

[Familial susceptibility to aminoglycoside ototoxicity due to the A1555G mutation in the mitochondrial DNA].

Background And Objective: The A1555G mutation in the mitochondrial genome causes sensorineural hearing loss and familial aminoglycoside ototoxicity.

Patients And Method: Screening for the A1555G mutation was performed on 72 patients with nonsyndromic sensorineural hearing loss.

Results: The A1555G mutation was identified in 15 patients (20.

[Audiometric features of familial hearing impairment transmitted by mitochondrial inheritance (A1555G)].

Objective: To examine the audiometric patterns of familial hearing impairment due to the A1555G mutation in the mitochondrial DNA.

Patients And Methods: We include 55 subjects with the A1555G mutation from 6 unrelated families, affected by nonsyndromic sensorineural hearing loss and residing in Cantabria. The A1555G mutation was found in homoplasmy in all the families, except in one family, in which it was in heteroplasmy.

[Incidence of A1555G mutations in the mitochondrial DNA and 35delG in the GJB2 gene (connexin-26) in families with late onset non-syndromic sensorineural hearing loss from Cantabria].

Introduction: Sensorineural deafness is a very common disorder in humans, which affects approximately 10% of the population. Genetic causes are suggested to be responsible for more than half of the cases. The A1555G mutation in the mitochondrial 12S rRNA gene and the 35delG mutation in the GJB2 gene are the most common mutations for sensorineural deafness in the Spanish population.