RESUMO
BACKGROUND: While gender differences of several diseases have been already described in the literature, studies in the area of hyperacusis are still scant. Despite the fact that hyperacusis is a condition that severely affects the patient's quality of life, it is not well investigated; a comprehensive understanding of its features, eventually including gender differences, could be a valuable asset in developing clinical intervention strategies. AIM: To evaluate gender differences among subjects affected by hyperacusis. METHODS: A literature search was conducted focused on adult patients presenting hyperacusis, using the MedLine bibliographic database. Relevant peer-reviewed studies, published in the last 20 years, were sought. A total of 259 papers have been identified, but only 4 met the inclusion criteria. The review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. RESULTS: The four selected papers included data from 604 patients; of these, 282 subjects resulted as affected by hyperacusis (125 females and 157 males). Questionnaires for analyzing factors affecting the attentional, social and emotional variance of hyperacusis (such as VAS, THI, TSCH, MASH) were administered to all included subjects. The data suggest that there are no hyperacusis gender-specific differences in the assessed population samples. CONCLUSIONS: The literature data suggest that males and females exhibit a similar level of hyperacusis. However, in light of the subjective nature of this condition, the eventual set up of further tests to assess hyperacusis features could be very helpful in the near future.
RESUMO
White Sutton Syndrome is a rare autosomal dominant disorder resulting from a de novo mutation of Pogo Transposable Element Derived with Zinc Finger domain gene. The phenotype is characterized by a wide spectrum of cognitive dysfunction and developmental delays. Hearing loss is frequently mentioned as one of the symptoms of this rare disease, but details are usually scant. We report a case of a male child affected by White Sutton Syndrome and sensorineural hearing loss, with audiological findings of an auditory neuropathy spectrum disorder, a dysfunction of the auditory pathway with preserved cochlear outer hair cell function. Up to date, the present case is the first description of hearing loss due to an auditory neuropathy spectrum disorder in White Sutton Syndrome. A comprehensive audiological assessment is therefore mandatory in all White Sutton Syndrome patients in order to recognize a possible auditory neuropathy disorder and then avoid misdiagnosis, or erroneous clinical management.
Assuntos
Surdez , Perda Auditiva Central , Perda Auditiva Neurossensorial , Perda Auditiva , Masculino , Humanos , Perda Auditiva Central/diagnóstico , Perda Auditiva Central/genética , Perda Auditiva Neurossensorial/etiologia , Perda Auditiva Neurossensorial/genética , Vias Auditivas , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologiaRESUMO
RT-PCR detection of SARS-CoV-2 mRNA on nasopharyngeal swab is the standard for diagnosing active Covid-19 disease in asymptomatic subjects and in symptomatic patients without the typical radiological findings. Nasopharyngeal swabbing appears a trivial procedure, still an inappropriate nasopharyngeal sampling, performed by untrained operators, can be a relevant cause of false negative findings with a clear negative impact on the effort to control the epidemic and, when PPE is not properly used, this can expose healthcare workers and patients to risks of contagion.