Search results for "Torino"
showing 10 items of 192 documents
Identification of D179H, a novel missense GJB2 mutation in a Western Sicily family
2013
The main purpose of this study was to describe a novel missense mutation (p.D179H) found in a Western Sicily family and to examine the genetic and audiologic profiles of all family members by performing a GJB2 and GJB6 mutations analysis and a complete audiologic assessment. The proband was a 3-month-old infant with a congenital profound sensorineural hearing loss; direct sequencing of the GJB2 revealed the presence of a c.35delG mutation in the heterozygous state and a heterozygous G[C transition at nucleotide 535 in trans; this novel mutation, called p.D179H, resulted in an aspartic acid to histidine change at codon 179. It was also evidenced in the heterozygous state in two members of th…
A Patient With Toxoplasmosis as a Cause of Submental Lymphadenopathy.
2019
Submental mass secondary to toxoplasmosis is a rare condition and physicians rarely consider its diagnosis. The presented case reports a 43-year-old woman referred with a constant, painless, edema located in the submental area for 2 weeks. Diagnosis of toxoplasmosis was established by the positive serological finding after an accurate medical history of the infectious disease specialist (the patient had eaten raw meat). The patient underwent antimicrobial therapy with resolution of lymphadenopathy. According to review of literature, the article aims to remind clinicians, maxillofacial surgeons, and otolaryngologists that a neck mass can be related to the infectious cause with involving of l…
Giovanni Curioni. Profilo di un Maestro e di uno storiografo
2008
Cammeo bio-bibliografico di un ingegnere docente storiografo presso la Facoltà di Ingegneria di Torino
“SINDROME DI BECHET, CELIACHIA E DIABETE MELLITO DI I TIPO”: ....RARO CASO A TIPIZZAZIONE ANOMALA
2011
La malattia di Behcet è una malattia rara, a genesi autoimmune, multifattoriale ad esordio tra la seconda e la terza decade di vita, a più elevata incidenza nei cosiddetti territori della via della seta (Medio Oriente) oltre che, nel Bacino del Mediterraneo. In Europa la prevalenza è 1:500.000 con maggiore incidenza nel sesso femminile. Clinicamente è caratterizzata da lesioni ulcerose ricorrenti del cavo orale che si accompagnano a ulcere genitali o lesioni cutanee, oculari o Pathergy Test positivo . Il "Behcet's Disease International Study Group" ha identificato nella presenza di ulcere del cavo orale associate a due delle lesioni sovracitate la diagnosi clinica di malattia di Behcet. Nel…
Raro caso di corpo estraneo tiroideo
2002
Laryngeal manifestations of Crohn's disease
2020
Crohn’s disease is a chronic inflammatory bowel disease. It should be considered a multisystemic disease due to its extra-intestinal manifestations found in 25-40% of patients with inflammatory bowel disease. Laryngeal involvement is very uncommon and the lesions in hypopharynx and larynx are edema, ulcerations and granulation tissue. Symptoms are dysphonia, dysphagia, odynophagia and airway restriction. Laryngeal manifestations of Crohn’s disease are usually successfully treated with oral steroids. We describe a 54-year-old woman who presented with dysphagia and odynophagia for 20 days. She had a history of Crohn’s disease for 6 years. Laryngoscopy revealed a cobblestone appearance of epig…
Role of Formyl-Peptide Receptors in Chronic Rhinosinusitis
2010
Role of cannabinoids in the treatment of tinnitus
2016
Tinnitus is a frequent symptom in audiological clinical practice characterized by an abnormal noise perceived in one or both ears or in the head, in which a patient has a conscious hearing percept in absence of external sound. Tinnitus might be caused by a homeostatic response of central dorsal cochlear nucleus auditory neurons that makes them hyperactive in compensation to auditory input loss. One hypothesis suggests that tinnitus is a sensory form of epilepsy that involves the cochlear nucleus and the inferior colliculus, which display impairment in the electrical activity in the auditory system. This alteration determines a synaptic plasticity in the dorsal cochlear nucleus that becomes …
Diagnostic Role of Combined Electrocochleography and Pure-Tone Audiometry Monitoring During Dehydrating Test in Ménière's Disease: A Case Series
2023
Objectives: To evaluate the diagnostic role of combined electrocochleography and pure-tone audiometry monitoring during dehydrating test in Ménière's disease and consider its suitability as a diagnostic tool to differentiate those patients with unclear differential diagnosis and therefore identify those with clear endolymphatic hydrops responsive to dehydrating test. To study the efficacy of dehydrating therapy on vertiginous symptoms and hearing loss in patients with Ménière's disease. Study design: Prospective case series. Settings: University hospital, secondary referral center. Patients: Thirty patients, 20 women and 10 men, age range of 25 to 75 years, matching the criteria for definit…