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. In general, 5 year old children who undergo cochlear implantation usually show a marked change in behavior regarding sound detection within the first 6 months of implant use, but word identification may not be exhibited for at least another 6-12 months of implant use. We herein report on a 5-year-old girl with LS. Her clinical manifestations including bilateral sensorineural HL, which indicated the diagnosis of LS. We confirmed the diagnosis by identifying a disease-causing mutation in the PTPN11 gene, which was a heterozygous missense mutation Ala461Thr (c.1381G>A). She underwent cochlear implantation (CI) without complications and she is currently on regular follow-up at postoperative 1 year. This is the first reported case of CI in a patient with LS in the medical literature.

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. Molecular genetic study of the USH2A gene revealed a novel frameshift mutation (c.2310delA; Glu771LysfsX17). She was heterozygous for this mutation, and no other mutation was found in USH2A, suggesting the possibility of an intronic or large genomic rearrangement mutation. To the best of our knowledge, this is the first report of a genetically confirmed case of USH2 in Korea. More investigations are needed to delineate genotype-phenotype correlations and ethnicity-specific genetic background of Usher syndrome.

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. In this study, we evaluated the auditory characteristics of the MPS II in IDS knock-out (IDS-KO) mice. In addition, the effect of enzyme replacement therapy (ERT) on hearing was studied. The IDS-KO mice had normal histology of the cochlea and retained good hearing at 7 weeks of age. However, at 17 weeks of age, the hearing thresholds of the IDS-KO mice were elevated and exudates were found in the middle ear. The hearing thresholds of the enzyme-treated IDS-KO (IDS-ERT) mice were similar to the wild-type (WT) mice at 17 weeks. Moreover, the microstructure of the inner ear was similar to the IDS-KO by transmission electron microscopy. The histology findings indicated that the microstructure of the inner ear was similar in comparisons between IDS-KO and IDS-ERT mice, even after 10 weeks of treatment. However, the hearing deficits in the MPS II mouse model can be prevented if ERT is started before the onset of hearing impairment.

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. SUBJECTS AND METHODS: Thirty-seven ears with CHL and 9 control ears with normal TMs were included. The VPO was performed preoperatively in all patients. The authors captured TM images in 3 stages of the VPO (static, positive, and negative pressure stage) in all subjects and measured the amount of relative position differences of the umbo. Pure-tone audiometry and temporal bone computed tomography (TBCT) were performed preoperatively. The possible causes of hearing loss were evaluated during exploratory tympanotomy in the patients with CHL. RESULTS: Fifteen patients had stapedial fixation, 10 had fixation of the malleus or incus (MIF), and 12 had ossicular discontinuity. The positional differences between the negative and positive pressure stage of the MIF group were significantly smaller between the CHL and control groups (P = .001). The air-bone gap showed no significant difference among the CHL groups. The sensitivity, specificity, and diagnostic accuracy of the VPO for the diagnosis of MIF, with a cutoff value of 1.5% or less in terms of the movement of umbo, were 80.0%, 92.6%, and 89.2%, respectively. These findings were comparable to those of the TBCT, which were 90.0%, 85.2%, and 86.5%, respectively. CONCLUSION: The VPO is a simple, noninvasive, and accurate tool for the differential diagnosis of CHL with a normal TM.

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. METHODS: We resequenced the GJB2 gene in 192 chromosomes from 96 adult individuals of Korean descent and who were without a history of hearing difficulty. The data of the SVs was obtained and the haplotypes were reconstructed from the data. RESULTS: Five SVs were observed, including a novel one (c.558G>A; p.T186T), with the allele frequencies ranging from 0.5% (1/192) to 41% (79/192). The linkage disequilibrium study and haplotype construction showed that some of the SVs are in tight linkage, resulting in a limited number of haplotypes. CONCLUSION: We observed SVs of the GJB2 gene with different allele frequencies, and a limited number of haplotypes were constructed. The data from this study can be used as reference data for GJB2-related hearing genetic studies, including studies on the founder effect and population genetics, and this data is particularly relevant to people of East Asian decent.

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. We evaluated the frequency of involved canals in BPPV according to the duration of symptoms. STUDY DESIGN: A retrospective review. METHODS: A retrospective review was conducted involving 589 patients diagnosed with BPPV from January 2001 to December 2006. The patients were divided into 3 groups according to the duration of symptoms: Group A included patients who sought evaluation in the clinics within 24 hours from the onset of symptoms (n = 328); Group B was composed of patients who experienced symptoms from 24 hours to 7 days (n = 87) before evaluation; and Group C patients had symptoms for more than 7 days (n = 174) before evaluation. The frequencies of involved canals were assessed and compared between the groups. The correlation between the frequency of involved canals and symptom duration was also analyzed. RESULTS: The posterior, horizontal, and anterior canals were involved in 61.8, 35.3, and 2.9% of the patients, respectively. However, the frequency of HC-BPPV was 40.5% in Group A, 33.3% in Group B, and 26.4% in Group C (p < 0.01). There was a significant negative correlation between the frequency of HC-BPPV and the duration of symptoms (r =-0.670; p < 0.01). CONCLUSION: The incidence of HC-BPPV was higher than reported; however, it significantly decreased according to the duration of symptoms.

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. The percent volume of air space out of the total tympanomastoid air cell system (the air index) was obtained from the temporal bone CT, and was used as a reference standard. As a result, minimal pressure and the movement of the umbo from negative pressure stage in ears with MEE were significantly different from the normal ears. The minimal pressure, maximal pressure and the movement of umbo from negative pressure to static stage were significantly correlated with the air index. These results may suggest useful parameters for quantitative analysis of VPO for the visual diagnosis of MEE.

[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'. The composition elements of living alone experienced by elderly women were as follows: 1) Corporeality: participants perceived their bodies by their health status. Unhealthy participants were suffering with diseases and dependant on other persons, while healthy participants were free from family responsibility and kept on moving. 2) Spatiality: participants felt both freedom and loneliness while they stayed home. 3) Relationality: participants felt pity and yearning for their bereaved husband and sometimes talked to his picture. According to their children's filial piety, participants were pleased or displeased. However, they incessantly devoted themselves to their children. 4) Temporality: participants considered the rest of their life as extra-time which was proceeding to death, and tried to keep themselves busy before they died. CONCLUSION: A nurse should understand the multifarious aspects of elderly women's life, and then intervene to consolidate their strengths for self-supporting the final years of life.

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. We prospectively compared the salivary flow rates, compositions, the number of suction episodes required to clearly view the laryngeal lesions before the main procedures, and residual secretion volume after the procedure in both groups. RESULTS: The mean salivary excretion rate was significantly higher in the propofol/remifentanil group than in the sevoflurane group (0.53 +/- 0.39 vs 0.28 +/- 0.15 mL/min, P < 0.001). Before starting the main procedure, the number of suction episodes required to clearly view the laryngeal lesions was also higher in the propofol/remifentanil group (5.0 +/- 2.3 vs 2.1 +/- 1.5, P < 0.001). Mean residual secretion in the oral cavity and oropharynx after the procedure was greater in the propofol/remifentanil group (2.13 +/- 0.59 vs 0.45 +/- 0.32 mL, P < 0.001). In addition, a significant difference in chloride levels in collected secretion was noted (sevoflurane; 93 +/- 19 vs propofol/remifentanil; 135 +/- 58 U/L, P = 0.004). CONCLUSIONS: Salivary excretion under propofol/remifentanil anesthesia is greater than under sevoflurane anesthesia during laryngeal surgery.

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). Comparison of pediatric and adult sialolithiasis was performed in terms of subject characteristics, clinical manifestations, salivary calculi characteristics, treatment modalities and outcomes. RESULTS: Postprandial recurrent swelling was the most frequent complaint in pediatric sialolithiasis patients, as similar as in adult patients. However, duration of symptoms was shorter in pediatric patients (mean 14.1 months versus 30.7 months, P=0.003). Most calculi were less than 1cm in pediatric patients (93.1%), compared to 56.3% of the adult patients (P=0.001). The calculi were located more in the distal duct (62.0%) than in proximal duct and gland in the pediatric patients, whereas 44.7% in the adult patients (P=0.038). CONCLUSION: Because of large proportion of relatively small and distal sialolithiasis in pediatric patients, bimanual careful palpation of the oral cavity is mandatory to diagnostic approach for children suspicious of sialolithiasis. These findings also suggest that intra-oral approach is effective treatment procedure for most of sialolithiasis in children.

[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. The main question was "what is the role of HCNP?" The debriefing notes and field notes were analyzed using consistent comparative data analysis method. RESULT: First, Home care (HC) is a small clinic. HCNP brings it to home to provide various services. Second, HC is the real nursing and HCNP is the 'genuine' nurse who actualizes the essence of nursing in practice. Third, HC is empowering activity to promote self-care ability of the patients and their caregivers. Forth, HC is like the dish-spinning required high-level mastery and HCNP is an expert who provides the most appropriate services to the patients. CONCLUSION: HCNPs have the role identity as a highly qualified professional who delivers services from hospital to home, actualizes the essence of nursing in practice, empowers the patients and their caregivers to have self-efficacy to recover, and offers the most appropriate nursing care.