• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.62-67
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• 2018

Hunter syndrome, also known as mucopolysaccharidosis Type II (MPS II), is one of the lysosomal storage diseases caused by a lack of the enzyme iduronate 2-sulfatase (I2S). Lack of the I2S enzyme activity leads to accumulation of the glycosaminoglycans (GAG), causing dysfunction of multiple organs and systems. MPS II is an X-linked recessive disease due to mutation of IDS gene located on long arm of the X chromosome (Xq28). To date, more than 350 mutations of IDS gene have been identified in Hunter syndrome. Phenotypes of MPS II are classified as either severe or attenuated depending on the degree of cognitive impairment. Because the phenotype of MPS II is related to the type of mutation, identifying mutations is useful in predicting prognosis. We recently had a case of MPS II diagnosed by exome sequencing in a 7 month old boy with infantile spasm uncontrolled by AED. He was diagnosed with hearing loss at 2 months of age, and he took vigabatrin and prednisolone to control infantile spasms diagnosed at 3 months of age. At 6 months of age, whole exome sequencing was performed to evaluate the infantile spasm and hearing loss in this patient, and the mutation c.851C>T (p.Pro284Leu) inherited from hemizygous mother was revealed. The results of urine Cetylpyridinium Chloride (CPC) precipitation test, which were negative until 8 months of age, were positive from 9 months of age. We report a case of MPS II diagnosed by exome sequencing and treated through enzyme replacement therapy from 9 months after birth.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.17 no.10
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• pp.591-599
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• 2016

Among the employer-supported subscribers to the National Health Insurance Service, 6,797 people with mild disabilities with western ages of 20 and up and who received health checkups were investigated. Of these 6,797 people, 3,186 and 3,611 received health checkups in 2009 and 2013, respectively. Those people who were diagnosed with physical handicaps, brain lesions, visual impairment, hearing impairment, intellectual disabilities, mental disorders, kidney disorders or other disorders according to the classification standard for people with disabilities were classified into disability groups of the 3rd through 6th degrees. The purpose of this study was to examine the dangerous influence of obesity of people with mild disabilities on their hyperglycemia, hypertension and high cholesterol. The items measured in this study were abdominal obesity, body mass index, fasting glucose, total cholesterol, systolic blood pressure and diastolic blood pressure. To look for connections between the obesity level and at-risk groups for each disease, cross tabulation and multinomial logistic regression analyses were utilized. Higher levels of abdominal obesity and BMI were found among those who were male, were younger and had higher incomes. The risks of abdominal obesity and BMI were higher in the abnormal groups for each disease. In 2009, the obesity group whose BMI was higher had a 1.51-fold higher risk of hypertension than the normal group. The abdominal obesity group had a 1.59-fold higher risk of high cholesterol, a 1.26-fold higher risk of hypertension and a 1.54-fold higher risk of hyperglycemia than the normal group. In 2013, the obesity group whose BMI was higher had a 1.72-fold higher risk of high cholesterol and a 1.43-fold higher risk of hypertension than the normal group. Those with abdominal obesity had a 1.59-fold higher risk of hyperglycemia than the normal subjects. As the risk of obesity was higher in those with disabilities than in those without disabilities, the former should be encouraged to undergo health checkups on a regular basis, and the coverage of the health checkups should be extended to keep track of their illness. In addition, appropriate education and concern are both required to prevent obesity.

• The Korean Nurse
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• v.36 no.5
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• pp.45-62
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• 1998

The study was conducted from November 1995 to May 1996 at the one general hospital in Seoul. The total subjects of this study were 412 patients who have the experience of fall accident, among them 31 was who have fallen during hospitalization and 381 was who visited emergency room and out patient clinic. The purposes of this study were to determine the characteristics, risk factors and results of fall accident and to suggest the nursing strategies for prevention of fall. Data were collected by reviewing the medical records and interviewing with the fallers and their family members. For data analysis, spss/pc+ program was utilized for descriptive statistics, adjusted standardized $X^2$-test. The results of this study were as follows: 1) Total subjects were 412 fallers, of which 245(59.5%) were men and 167(40.5%) were women. Age were 0-14 years 79(19.2%), 15-44 years 125(30.4%), 45-64 years 104(25.2%), over 65 years 104(25.2%). 2) There was significant association between age and the sexes ($X^2$=39.17, P=0.00). 3) There was significant association between age and history of falls ($X^2$=44.41. P= .00). And history of falls in the elderly was significantly associated with falls. 4) There was significant association with age and medical diagnosis ($X^2$=140.66, P= .00), chief medical diagnosis were hypertension(34), diabetis mellitus(22), arthritis(11), stroke(8), fracture(7), pulmonary tuberculosis(6), dementia(5) and cataract(5), 5) There was significant association between age and intrinsic factors: cognitive impairment, mobility impairment, insomnia, emotional problems, urinary difficulty, visual impairments, hearing impairments, use of drugs (sedatives , antihypertensive drugs, diuretics, antidepressants) (P < 0.05). But there was no significant association between age and dizziness ($X^2$=2.87, P=.41). 6) 15.3% of total fallers were drunken state when they were fallen. 7) Environmental factors of fall accident were unusual posture (50.9%), slips(35.2%), trips (9.5%) and collision(4.4%). 8) Most of falls occurred during the day time, peak frequencies of falls occurred from 1pm to 6pm and 7am to 12am. 9) The places of fall accident were roads(22.6%), house-stairs 06.7%), rooms, floors, kitchen (11.2%), the roof-top, veranda, windows(10.9%), hospital(7.5%), ice or snowy ways(5.8%), bathroom(4.9%), playground, park(4.9%), subway-stairs(4.4%) and public-bathrooms (2.2%). 10) Activities at the time of fall accident were walking(37.6%), turning around or reaching for something(20.9%), going up or down stairs09.2%), exereise, working07.4%), up or down from a bed(2.7%), using wheelchair or walking aids, standing up or down from a chair(2.2%) and standing still(2.2%). 11) Anatomical locations of injuries by falls were head, face, neck(31.3%), lower extremities (29.9%). upper extremities(20.6%), spine, thorax, abdomen or pelvic contents(l1.4%) and unspecified(2.9%). 12) Types of injures were fracture(47.6%), bruises03.8%), laceration (13.3%), sprains(9.0%), headache(6.6%), abrasions(2.9%), intracranial hemorrage(2.4%) and burns(0.5%). 13) 41.5% of the fallers were hospitalized and average of hospitalization was 22.3 days. 14) The six fallers(1.46%) died from fall injuries. The two fallers died from intracranial hemorrage and the four fallers died of secondary infection; pneumonia(2), sepsis(1) and cell lulitis(1). It is suggested that 1) Further study is needed with larger sample size to identify the fall risk factors. 2) After the fall accident, comprehensive nursing care and regular physical exercise should be emphasized for the elderly person. 3) Safety education and safety facilities of the public place and home is necessary for fall prevention.

• Journal of agricultural medicine and community health
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• v.27 no.1
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• pp.21-31
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• 2002

The aim of this study was to analyse and conduct the comprehensive geriatric assessment for the elderly in rural area. The subjects were 388 older people aged 65 years or older living in the community. Data for comprehensive assessment such as physical, mental, functional, social and environmental conditions were collected from January to February, 2001 through a person-to-person interview. Of the total 388 olders, 169(43.6%) were men and 219(56.4%) were women. Mean ages of men and women were $73.5{\pm}6.4$ and $74.0{\pm}6.2$ years respectively. Three common diseases of the elderly were arthralgia(51.6%), chronic back pain(33.2%) and hypertension(18.6%), and higher in women than in men. Impairment rate of vision, hearing and bowel or bladder control was 59.0%, 20.1%, and 28.4% respectively. But that of lover extremities 3.4%. In terms of cognitive function, short term memory loss was found in 33.7% of males and 44.7% of females. The percentage of fully independent in the six ADL items was 72.2% in men and 58.9% in women. In the social supportive system, 49.5% of the elderly were living with spouse, and 22.9% living alone, 26.3% having care giver. These results will provide basic data for the development of community-based health program, which gives appropriate health service for the elderly living in the community.

• Journal of Korean Neurosurgical Society
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• v.30 no.9
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• pp.1079-1085
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• 2001

Objective : We analysed various surgical approaches and surgical results of 28 middle cranial base tumors for the purpose of selecting optimal surgical approach to the middle cranial base tumor. Methods : In this retrospective review, 28 patients, including 16 meningioma, 6 trigeminal neurinoma, 2 pituitary adenoma, 2 craniopharyngioma, 1 facial neurinoma, and 1 metastatic tumor, underwent surgical treatment using skull base technique. Of theses, 16 tumors were mainly confined to middle cranial fossae, 5 tumors with extension into both anterior and middle fossa, and 7 tumors with extension into both middle and posterior fossa. Tumors that confined to the middle cranial fossa or extended into the anterior cranial fossa were operated with modified pterional, orbitozygomatic or Dolen'c approach, and tumors that extended into the posterior cranial fossa were operated with anterior, posterior or combined transpetrosal approach. Completeness of tumor resection, surgical outcome, postoperative complication, and follow up result were studied. Results : Total tumor removal was achieved in 9 tumors of 10 tumors that did not extended to the cavernous sinus, and was achieved in 7 tumors of 8 tumors that extended to the lateral wall of the cavernous sinus. Of 10 tumors that extended to the venous channel of the cavernous sinus, only 2 were removed totally. Surgical outcome was excellent in 14 patients, good in 10, fair in 2 and poor in 2. There were no death in this series. Dumbell type tumor which extended into both middle and posterior fossae showed tendency of poor prognosis as compared with tumors that confined middle cranial fossa and extended into both anterior and middle cranial fossa. Postoperative dysfunctions were trieminal hypesthesia in 3, oculomotor nerve palsy in 2, abducens nerve palsy in 2, hemiparesis in 2, cerebellar sign in 1, facial palsy in 1 and hearing impairment in 1. Conclusion : Based on our findings and a review of the literature, we conclude that, when selecting the surgical approach to the middle cranial fossa tumors, the most important factors to be considered were exact location of the tumor mass and existence of the cavernous sinus invasion by tumor mass. We recommend modified pterional or orbitozygomatic approach in cases with tumors located anterior and middle cranial base, without cavernous sinus invasion. In cases with tumors invading into cavernous sinus, we recommend Dolen'c or orbitozygomatic approach. And in lateral wall mass and the cavernous sinus, it is preferred to approach the tumor extradurally. For the tumor involing with middle fossa and posterior fossa(dumbell type) a combined petrosal approach is necessary. In cases with cavernous sinus invasion and internal carotid artery encasement, we recommend subtotal resection of the tumor and radiation therapy to prevent permanent postoperative sequele.