• Proceedings of the Korean Society of Applied Pharmacology
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• 2007.04a
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• pp.147-153
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• 2007

Central to developing new treatment strategies for late onset sporadic Parkinson's disease (PD) and early onset familial PD is resolving the enigma of the specific vulnerability exhibited by substantia nigra dopamine (DA) neurons despite multiple risk factors. Neuropathological evidence from both human and experimental models of PD firmly supports a significant role for oxidative stress (OS) and mitochondrial dysfunction in the death of nigral DA neurons. Largely unknown are the genes underlying selective susceptibility of nigral DA neuron to OS and mitochondrial dysfunction and how they effect nigral DA cell death. To overcome the paucity of nigral DA neurons as well as the dilution effect of non-DA cells in brain tissues, we have developed wild type DA cell line model, SN4741 and mutant DJ-1 (-/-) DA cells, appropriate for microarray analysis and differential mitochondrial proteomics. Mutations in the DJ-1 gene (PARK7), localized in cytoplasm and mitochondria, cause autosomal recessive early onset PD. Through microarray analysis using SN4741 cells followed by validation tests, we have identified a novel phylogenically conserved neuroprotective gene, Oxi-a, which is specifically expressed in DA neurons. The knockdown of the gene dramatically increased vulnerability to as. Importantly as down-regulated the expression level of the gene and recovery of its expression via transient transfection exerted significant neuroprotection against as insult. We also have identified altered expression of mitochondrial proteins and other familial PD genes in DJ-1 (-/-) mutant cells by differential mitochondrial proteomics. In DJ-1 (-/-) cells the knockdown of the other familial PD genes (Parkin and PINK1) dramatically increased susceptibility to as. Thus, further functional characterization of the Oxi-$\alpha$ gene family and the mitochondrial alteration in the DJ-1 (-/-) cell model will provide the rationale for the neuroprotective therapy against both sporadic and familial PD.

• Journal of Families and Better Life
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• v.22 no.6 s.72
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• pp.13-26
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• 2004

The purpose of this study was to investigate the effect of personal, familial, educational, internet factor on adolescent's self-esteem according to the age and gender. The participants were 2,229 male and female students attending to middle and high schools. The results of this study were as follows: First, the self-esteem score of middle school students was higher than the score of high school students. Second, there were differences between females and males in several aspects. In order to explore and identify patterns of these differences, hierarchical multiple regressions were conducted with separate groups (male middle school students, female middle school students, male high school students, and female high school students). Third, female middle school students' self esteem was affected by familial and educational factors. Male middle school students' self esteem was affected by familial factor, particularly by parental marital conflict. In the case of female high school students, self esteem was associated with economic variables (spending money and subjective economic level). Male high school students' self esteem was affected b? the level of use of the internet.

• Tuberculosis and Respiratory Diseases
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• v.41 no.6
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• pp.644-650
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• 1994

Sarcoidosis can affect two or more members of the same family, and the reported occurrence of such familial sarcoidosis is variable from 0.5 to 14%. Recent1y we have experienced familial sarcoidosis affected mother and daughter, for the first time in Korea. Mother was diagnosed as Stage 11 sarcoidosis 4 years ago by transbronchial lung biopsy and cervical lymph node biopsy with compatible BAL finding in our hospital. This time, the daughter was admitted with bilateral hilar enlargement and anterior uveitis. Even though she had positive tuberculin skin test and atypical BAL finding(lymphocyte: 61%, CD4/CD8: 1.22). Transbronchial lung biopsy and mediastinal lymph node biopsy revealed noncaseating epithelioid granuloma without AFB. Slit lamp examination of the eyes showed severe anterior uveitis. Systemic steroid therapy was started due to progressive uveitis with antituberculous medication.

• Journal of Korean Neurosurgical Society
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• v.30 no.sup2
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• pp.352-355
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• 2001

The authors report two cases of familial hemifacial spasm according to the clinical and three dimensional shortrange magnetic resonance angiography(3D-SRMRA) findings. In the family of the first case, there were five patient's with acquired hemifacial spasm in successive generations. Three male and two female patients in successive generations of the same family developed acquired hemifacial spasm. Four patients were on the left side and one was on the right side. In the family of the second case, there were three patient's with acquired hemifacial spasm in successive generations. Two brothers developed left-sided hemifacial spasm. 3D-SRMRA finding of the probands demonstrated that both anterior inferior cerebellar artery in first case and anterior inferior cerebellar artery & vertebral artery in second case offend the 7th cranial nerve respectively. The presence of familial clustering of these rare disorders suggest an underlying genetic predisposition. All family pedigrees suggest that a pattern of autosomal-dominant inheritance with partial penetrance.

• Journal of Families and Better Life
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• v.20 no.3
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• pp.1-12
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• 2002

This study was conducted to examine the relationship between socio-familial characteristics and health status in early stage of elderly life. In this study, a total of 252 Korean males and females aged 55 to 74 were interviewed to obtain information on various socio-familial characteristics such as age, gender, residence, marital status, education, religion, distance with children, household size, and living arrangements. They were also examined for self-perceived depression and diagnosed health problems. The analysis of the results show that marital status, gender, and living arrangement were major characteristics differentiating health status; widowed women living apart from their children are at lower level for most items of hea1th status such as emotional, circulatory, respiratory, digestive, and muscle and skeletal function. Based on this analysis, suggestions are made for efficient health management. First, widowed females living without children are encouraged to participate in regular health promotion programs in self-organized groups. Second, usual welfare service programs need to be segregated for each age group, so that relatively young elderly are not frustrated from being treated together with extremely frail older elderly. Third, low education group living in rural area are offered preventive medical services for muscular and skeletal related health problems.

• BMB Reports
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• v.43 no.4
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• pp.233-244
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• 2010

Parkinson's disease (PD) is the second most common neurodegenerative disease, and 5-10% of the PD cases are genetically inherited as familial PD (FPD). LRRK2 (leucine-rich repeat kinase 2) was first reported in 2004 as a gene corresponding to PARK8, an autosomal gene whose dominant mutations cause familial PD. LRRK2 contains both active kinase and GTPase domains as well as protein-protein interaction motifs such as LRR (leucine-rich repeat) and WD40. Most pathogenic LRRK2 mutations are located in either the GTPase or kinase domain, implying important roles for the enzymatic activities in PD pathogenic mechanisms. In comparison to other PD causative genes such as parkin and PINK1, LRRK2 exhibits two important features. One is that LRRK2's mutations (especially the G2019S mutation) were observed in sporadic as well as familial PD patients. Another is that, among the various PD-causing genes, pathological characteristics observed in patients carrying LRRK2 mutations are the most similar to patients with sporadic PD. Because of these two observations, LRRK2 has been intensively investigated for its pathogenic mechanism (s) and as a target gene for PD therapeutics. In this review, the general biochemical and molecular features of LRRK2, the recent results of LRRK2 studies and LRRK2's therapeutic potential as a PD target gene will be discussed.

• The Korean Journal of Nuclear Medicine
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• v.23 no.1
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• pp.1-6
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• 1989

The occurrence of thyroid disorders is connected with iodine deficiency, defective synthesis or releasing of thyroid hormone and endemicity. Genetic factors are known as a single gene defects, interaction of multiple genes with environmental factors, as well as chromosomal aberrations. Diofnosis thyroid disorders is enforced by I-131 uptake test, thyroid scanning with I-131 or Tc-99 m and serum radioimmunoassays of T3, T4, free T4 and TSH. They were largely classified as hypothyroidism, hyperthyroidism, simple goiter and normal. The pedigree of 58 families was drawn by propositus, and then the correlation between thyroid disorders and TSH levels was analyzed. The results are as follows: 1) The offsprings and their mothers of 15 families were hypothyroidism, THS level was 5 folds for offsprings and 4 folds for mothers in comparison with control group. 2) 13 families were hyperthyyroidism in siblings but their mothers were normal in thyroid function, TSH level of the siblings was lower than control group. 3) Though the offsprings and their mothers of 10 families were similar to TSH level of control group, they are all simple goiter, familial thyroid disorders, in other thyroid function test. The familial thyroid disorders suggested that these transmitted from mothers to offsprings with X-linked dominant or autosomal dominant inheritance.

• Clinical and Experimental Pediatrics
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• v.54 no.11
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• pp.470-472
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• 2011

Familial hyperkalemic periodic paralysis (HYPP) is an autosomal-dominant channelopathy characterized by transient and recurrent episodes of paralysis with concomitant hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene $SCN4A$ have been reported to be responsible for this disease. Here, we report the case of a 16-year-old girl with HYPP whose mutational analysis revealed a heterozygous c.2111C>T substitution in the $SCN4A$ gene leading to a Thr704Met mutation in the protein sequence. The parents were clinically unaffected and did not have a mutation in the $SCN4A$ gene. A $de$ $novo$ $SCN4A$ mutation for familial HYPP has not previously been reported. The patient did not respond to acetazolamide, but showed a marked improvement in paralytic symptoms upon treatment with hydrochlorothiazide. The findings in this case indicate that a $de$ $novo$ mutation needs to be considered when an isolated family member is found to have a HYPP phenotype.

• Journal of Dental Anesthesia and Pain Medicine
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• v.20 no.1
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• pp.39-44
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• 2020

Homozygous familial hypercholesterolemia (HoFH) is a rare inherited disorder that presents as abnormally elevated levels of low-density lipoprotein cholesterol and premature heart disease, requiring frequent intervention through lipid apheresis for management. The risk of perioperative cardiac events is higher in patients with HoFH because of its pathophysiological manifestations in the vascular system. Careful cardiac precautions and anesthetic assessments are necessary to ensure patient safety. In the following case report, we discuss the clinical course and anesthetic considerations for a 14-year-old girl with HoFH undergoing sedation for dental extractions and mandibular molar uprighting in an outpatient oral surgery clinic. Considerations included the use of heparin in the patient's weekly plasma lipid apheresis treatment. In order to reduce the risks of peri- and postoperative bleeding and perioperative cardiac events, the operation was scheduled for 4 days after apheresis. This allowed for adequate heparin clearance, while also reducing the likelihood of possible cardiac events. A literature review revealed no results for the outpatient management of patients with HoFH undergoing sedation for noncardiac procedures. Our reported case serves as a clinical example for physicians to be utilized in the future.

• Clinical and Experimental Pediatrics
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• v.45 no.9
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• pp.1150-1154
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• 2002

Wolff-Parkinson-White(WPW) syndrome is characterized by electrographic evidence of ventricular preexcitation, which predisposes to supraventicular arrhythmias. Familial occurrence of WPW syndrome is uncommon. We observed two affected siblings in a family. Five members of the family underwent 12-lead electrocardiography and echocardiography. Although known genetic abnormality of the 7q34-q36(PRKAG2) for the familial WPW syndrome was evaluated, the mutation was not detected in this family. Other unknown mutations responsible for this familial WPW syndrome were suggested.