Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome.

Hearing loss (HL) is one of the most frequent clinical manifestations of patients who suffer with multi-systemic genetic disorders. HL in association with other physical stigmata is referred to as a syndromic form of HL. LEOPARD syndrome (LS) is one of the disorders with syndromic HL and it is caused by a mutation in the PTPN11 or RAF1 gene.

A Novel Frameshift Mutation of the USH2A Gene in a Korean Patient with Usher Syndrome Type II.

Usher syndrome type II (USH2) is the most common form of Usher syndrome, characterized by moderate to severe hearing impairment and progressive visual loss due to retinitis pigmentosa. It has been shown that mutations in the USH2A gene are responsible for USH2. The authors herein describe a 34-year-old Korean woman with the typical clinical manifestation of USH2; she had bilateral hearing disturbance and progressive visual deterioration, without vestibular dysfunction.

Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II.

Mucopolysaccharidosis (MPS) II is an X-linked metabolic disorder caused by dysfunction of iduronate-2-sulfatase (I2S). This abnormality causes the progressive accumulation of incompletely degraded glycosaminoglycans (GAGs) in the lysosomes. The auditory characteristics of MPS II in mouse models have not been reported.

Video pneumatic otoscopy for the diagnosis of conductive hearing loss with normal tympanic membranes.

Objective: To evaluate the usefulness of video pneumatic otoscopy (VPO) for the diagnosis of conductive hearing loss (CHL) with normal tympanic membranes (TM).

Study Design: Prospective study.

Setting: Tertiary care hospital.

Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea.

Objectives: Hearing impairment (HI) is the most common sensory deficit in human. The Gap Junction Protein, Beta-2 (GJB2) gene encodes the protein connexin 26, and this gene accounts for up to half of the cases of autosomal recessive nonsyndromic HI. This study was conducted to obtain a set of sequence variations (SVs) of the GJB2 gene among Koreans from the general population for making molecular genetic diagnoses and performing genetic counseling.

Incidence of horizontal canal benign paroxysmal positional vertigo as a function of the duration of symptoms.

Objectives: The incidence of horizontal canal involvement in benign paroxysmal positional vertigo (HC-BPPV) varies between reports. One of the reasons for these differences is that the duration of symptoms was not considered. Because of the high spontaneous resolution rate in HC-BPPV and the medical referral system, the frequency of HC-BPPV might change according to the duration of symptoms.

[The life of elderly women living alone].

Purpose: This study aimed to uncover the fundamental nature of living alone in female elderly.

Methods: The phenomenological research approach developed by van Manen was adopted.

Results: The theme was 'taking a firm stand alone on the edges of life'.

Video pneumatic otoscopy for the diagnosis of otitis media with effusion: a quantitative approach.

Pneumatic otoscopy is most helpful for optimally assessing the presence of a middle ear effusion (MEE). To evaluate the diagnostic usefulness and to obtain objective parameters of video pneumatic otoscope (VPO) in ears with MEE, we measured the minimal and maximal pressures in the external auditory canal and recorded the movement of the tympanic membrane (TM) during VPO in 28 ears with MEE and 13 healthy ears. The movements of the TM at static stage, positive and negative pressure stages of VPO were analyzed in terms of the position of the umbo and the angle and length of the malleus.

A prospective, randomized comparison of the effects of inhaled sevoflurane anesthesia and propofol/remifentanil intravenous anesthesia on salivary excretion during laryngeal microsurgery.

Background: One of the goals of anesthesia for laryngeal microsurgery is to provide a clear surgical view, and therefore anesthetics that produce less saliva are desirable. Sevoflurane inhalation anesthesia and total IV anesthesia with propofol/remifentanil are widely used for anesthesia during laryngeal microsurgery; however, few rigorous comparisons of the effects of sevoflurane and propofol/remifentanil on salivation have been performed.

Methods: Forty subjects undergoing laryngeal microsurgery were randomly assigned for sevoflurane or propofol/remifentanil anesthesia.

Pediatric sialolithiasis: what is different from adult sialolithiasis?

Objective: To investigate the clinical characteristics of pediatric sialolithiasis, which are distinct from those of adult sialolithiasis.

Methods: A total of 210 patients with sialolithiasis confirmed by surgical treatment were enrolled in the study from Samsung Medical Registry (1995-2005). Twenty-nine were pediatric patients (age < or =18 years) and 181 adult patients (age >19 years).

[Role-identity of home care nurse practitioners].

Introduction: It is important to understand the nature of the identity through the live experiences of Home Care Nurse Practitioner(HCNP) because the role identity of a professional is constructed by continuous social interactions, This study aims to understand the construction of the role identity of HCNP.

Method: Data was collected from 12 hospital based HCNPs. This study involved two focus group discussion sand four in-depth individual interviews.