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.

A Phenomenological Study on Lived Experience of Suffering in Suicide Attempters / 정신간호학회지

PURPOSE: The purpose of the study was to understand essential meanings of suffering experienced by suicide attempters. METHODS: Data were collected in 2009 through individual narrative interviews from 7 suicide attempters. Texts from literary works and movies containing suicide were also included as data. Data were analyzed using the hermeneutic phenomenology of van Manen. RESULTS: Thirteen themes were identified in four dimensions. In the dimension of 'lived body', 'unbearably sweet temptation to death', 'body surrendered by emotional damage', 'chaos in life and death', 'squashed body by the heavy weight of life', and 'loss of meaning in life' were identified. 'The black hole, one is not able to get out' represents the experience in the dimension of 'lived space', 'The moment on the edge of a profound abyss' and 'the worst present and hopeless future' represent 'lived time'. In the dimension of 'lived human relation', 'I who am alone in the world', 'fear of being abandoned', 'unbreakable relationship trap', 'I who am not recognized' and 'guilty feeling' were included. CONCLUSION: Results of the study should be helpful in developing personalized suicide prevention programs by showing the various types of suffering deeply ingrained into the personal history of suicide attempters.

Analysis of Psychiatric Nursing Activity and Time for Development of Nursing Cost / 정신간호학회지

PURPOSE: Purpose of this research was to identify nursing activities and the time required in the psychiatric ward to provide basic knowledge for development of cost of psychiatric nursing. METHODS: In this research 'a list of psychiatric nursing activities' was used to identify the issues. A list of psychiatric nursing activities was developed by a professional psychiatric nursing panel, and 138 nursing activities in 15 domains were identified. RESULTS: The result of this research showed that the average number of work hours per duty was 515.1 minutes and the average number of minutes per patient per nurse while on duty was 35.7 minutes. Also the results showed that the nurses used the majority of their time in 'Nursing care and information management' (528.0 minutes/day, 33.6%), followed by 'communication and coordination' (209.2 minutes, 13.3%), 'safety care' (185.3 minutes, 11.8%), and 'medication' (120.9 minutes, 13.3%). CONCLUSION: The result of this research indicate that the number of nursing staff is insufficient for the performance of necessary therapeutic activities. Nursing practices such as counseling, activity therapy, and psychiatric treatment and specific therapy need to be developed and nursing care fees need to be included in psychiatric nursing fields.

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.

A Case of Neurovascular Cross-compression of the Eighth Cranial Nerve Representing Longstanding Uncompensated Vestibular Hypofunction / 대한평형의학회지

The neurovascular cross-compression (NVCC) of the eighth cranial nerve (CN) is a clinical entity with symptoms of recurrent vertigo or tinnitus. Although the diagnostic criteria have been defined, the precise clinical presentation and pathomechanism have not been clarified. The treatment response to the carbamazepine; drug of choice for first line medical treatment, has been considered as one of the diagnostic criteria. Herein, we present a case of chronic uncompensated unilateral vestibular hypofunction who responded dramatically to carbamazepine medication. A 55 year-old male admitted to the hospital with symptoms of recurrent oscillopsia and headache for more than 7 years. His symptoms were aggravated by positional changes. Vestibular function tests showed spontaneous nystagmus, canal paresis on caloric test and vestibular dysfunction on dynamic posturography, which represented unilateral uncompensated vestibular hypofunction. Although his symptom was not relived by vestibular rehabilitation, he was treated with carbamazepine. A long standing uncompensated unilateral vestibular hypofunction without any auditory symptoms could be one of the clinical presentations in NVCC of the eighth CN.

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.

Role-Identity of Home Care Nurse Practitioners / 간호학회지

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.

Role-Identity of Home Care Nurse Practitioners / 간호학회지

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.

Turnover Experience of Hospital Nurses in Korea / 성인간호학회지

PURPOSE: The purpose of the study was to explore how hospital nurses decide to quit working as professional nurses using the grounded theory method. METHOD: The data was collected by individual in-depth interviews with 12 hospital nurses who recently resigned from work and it was analyzed using 'constant comparative analysis.' RESULT: The core category that emerged was "in search of new balance with self, work, and family". Three stages were identified: 1) "unconditionally accepting the working situation of itself," 2) "weighing advantages and disadvantages of working as a hospital nurse", and 3) "redesigning a future". Each stage contains three major strategies. The major strategies of the first stage are "maintaining a learning attitude", "enduring physical burnout," and "enduring unfair interpersonal relationships". The second stage contains "identifying advantages of working", "identifying disadvantages of working", and "comparing the advantages with the disadvantages". Lastly, the third stage includes "reassessing the aim of life", "beginning to construct an alternative life", and "deciding to quit working at a certain point". CONCLUSION: The results of the study will help nursing administrators in designing and implementing an effective turnover prevention program for nurses by understanding more deeply the process of turnover phenomenon among hospital nurses.