• Journal of Genetic Medicine
• /
• v.4 no.1
• /
• pp.38-44
• /
• 2007

Purpose : Menkes disease is an X-linked recessively inherited disorder caused by the mutation of the ATP7A gene encoding copper-transporting P-type AT Pase. The phenotypic features are progressive neurological degeneration, mental retardation, loose skin, and vascular complications. Early diagnosis and treatment are very important for the prognosis of Menkes disease. Here, we describe nov el mutations of the ATP7A gene and prenatal diagnosis by mutation analysis. Methods : Five unrelated Korean Menkes patients were included in this study. They presented with depigmented wool-like hair, progressive neurologic deterioration, and hypotonia in infancy. Serum copper and ceruloplasmin levels w ere decreased. Brain magnetic resonance imaging revealed tortuous intracranial vessels. Mutation analysis has been carried out using cDNA from cultured skin fibroblasts or genomic DNA from peripheral leukocytes. Prenatal diagnosis was performed in two cases using chorionic villi samples or amniocytes. Results : Four novel mutations have been identified from four different families; c.3511+1G>A (p.E1099_N1171delinsMfsX 18), c.4005+5 G>A (p.V1268_R1335del), c.1870_2172del (p.S624_Q724del), and c.3352 G>A (p.G1118S). T he remaining one was previously reported (c.1933 C>T (p.V 1268_R1335del)). On prenatal DNA analysis, one w as diagnosed as normal, while the other turned out to be a female heterozygote with p.S624_Q724del mutation of the ATP7A gene. Conclusion : We identified 4 novel mutations of the ATP7A gene. Prenatal diagnosis in families at risk is critical in order to choose preventiv e options including an early treatment with copper-histidine therapy or therapeutic termination. Most mutations of the ATP7A gene were frame-shift mutations and prenatal diagnosis has been successfully carried out.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• v.7 no.1
• /
• pp.44-51
• /
• 1996

Objective : The authors investigated family environemtn of ADHD referred to child psychiatric clinics. Method : Seventy two patients were grouped into pure ADHD and comorbid ADHD. Patient's lither and mother conducted the Korean Form of the Family Environment Scale(K-FES). And then, scores were compared with that of 77 normal controls. Results : Among subscales of K-FES, expressiveness, achievement orientation and organization were scored significantly lower in ADHD mothers' reporting than ADHD fathers' And only organization subscale was scored significantly lower in ADHD fathers' reporting than controls' In post hoc comparison, subscales of expressiveness, moral-religious emphasis and organization were significantly lower in mothers' reporting of pure ADHD and comorbid ADHD than of controls, and only organization subscale was significantly lower in fathers' reporting of comorbid ADHD than of controls. Conclusion : Parents of ADHD patients agreed that their families were not well organized, and each perceived somewhat differently on the family environment. Further study is needed to eludicate whether specific family environment causes ADHD or is caused by behavior of ADITD patients.

• Environmental Analysis Health and Toxicology
• /
• v.31
• /
• pp.19.1-19.7
• /
• 2016

A large portion of the Korean population has been exposed to toxic humidifier disinfectants (HDs), and considering that the majority of the victims are infants, the magnitude of the damage is expected to be considerably larger than what has currently been revealed. The current victims are voicing problems caused by various diseases, including but not limited to lung, upper respiratory tract, cardiovascular, kidney, musculoskeletal, eye, and skin diseases, etc. However, there has been difficulty in gaining validation for these health problems and identifying causal relationships due to lack of evidence proving that toxic HD is the specific causes of extrapulmonary diseases such as allergic rhinitis. Furthermore, the victims and bereaved families of the HD case have not received any support for psychological distress such as post-traumatic stress disorder, depression, feelings of injustice, and anger caused by the trauma. In addition, because the underlying mechanisms of the toxic materials within the HDs such as polyhexamethylene guanidine phosphate, poly(oxyalkylene guanidine) hydrochloride, chloromethylisothiazolinone /methylisothiazolinone have yet to be determined, the demand for information regarding the HD issue is growing. The victims of the HD cases require support that goes beyond financial aid for medical costs and living expenses. There is a desperate need for government-led integrated support centers that provide individualized support through health screenings; in other words, we need an integrated facility that provides the appropriate social support to allow the victims to recover their physical and mental health, so as to well prepare them to return to a normal life. The implementation of such a plan requires not only the close cooperation between those departments already directly involved such as the Ministry of Environment and the Ministry of Health and Welfare, but also active support on a national scale from pan-governmental consultative bodies.

• Korean Journal of Psychosomatic Medicine
• /
• v.25 no.1
• /
• pp.3-11
• /
• 2017

Objectives : The aim of this study was to draw attention toward so called 'behavioral variant frontotemporal dementia(bvFTD) phenocopy syndrome', which is difficult to discriminate with the primary psychiatric disorders, showing poor response to conventional therapeutic drugs, leading to higher risk to misdiagnoses and legal problems. Furthermore, the author insisted that our interest and study on them must be continued. Methods : English articles published during 2000 thru 2016 had been searched by internet with the combination of words such as 'frontotemporal', 'phenocopy' and 'behavioral', and reviewed. Besides, two clinical vignettes were described. Results : Precise diagnosis is important because patients' behavioral symptoms can influence on their families and community. However, disease-modifying treatment for bvFTD are not developed until now, and recent therapeutic drugs are only good for specific symptoms, while deterioration progresses in spite of proper psychiatric management. The possible bvFTD patients are not progressed into probable bvFTD clinically, showing no decline of cogntive and social function, no decrease of activity function, longer survival time, and normal neuroimaging for several years. Conclusions : Rather than expected, there are much more patients having clinical symptoms, course and diagnostic findings including neuroimaging, which are atypical to classical frontotemporal dementia and primary psychiatric disorders. If our knowledge and discriminating ability is improved, discovery rate of that cases will be increased. However, the identity of these atypical features are not clarified until now, it must be further actively investigated.

• Korean Journal of Weed Science
• /
• v.12 no.4
• /
• pp.374-379
• /
• 1992

Response of medicinal plants(58 species in 28 families) cultivated or naturally grown in Korea on paraquat (1,1'-dimethyl-4,4'-bipyridinium ion) was determined. All the plants, except for Jiwhang(Rehmannia glutinosa Liboch.) were killed by paraquat at 0. 8kg $ha^{-1}$. Jiwhang showed a great resistance to paraquat. The phytotoxic effect did not occur in Jiwhang with paraquat applied at 3.2kg $ha^{-1}$. Only 10% growth inhibition of Jiwhang was obtained at 4.8kg $ha^{-1}$. Normal growth of Jiwhang also occurred when at 0.8kg $ha^{-1}$ of paraquat different application dates from 2 leaf stage(LS) to 8 LS and/or five-repeated applications at 20-day intervals starting from 3 LS were employed. However, Jiwhang was completely killed by glyphosate[N-(phosphonomethyl) glycine], 2,4-D[2,4-dichlorophenoxy) acetic acid], and dicamba[3,6-dichloro-2-methoxy benzoic acid]+2, 4-D at the respective recommended rates.

• BMB Reports
• /
• v.36 no.2
• /
• pp.179-184
• /
• 2003

Duchenne muscular dystrophy (DMD) is the most common hereditary neuromuscular disease. It is inherited manifestations. In some rare cases, the disease can also be manifested in females. The aim of the present study was to determine the molecular alteration in two cases of nonrelated DMD symptomatic carriers with no previous history of DMD. Multiplex PCR is commonly used to search for deletion in the DMD gene of affected males. This method could not be used in females because the normal X chromosome masks the deletion of the mutated one. Therefor, we used a set of seven highly polymorphic dinucleotide $(CA)_n$ repeat markers that lie within the human dystrophin gene. The deletions were evidenced by hemizygosity of the loci under study. We localized a deletion in the locus 7A (intron 7) on the maternal X chromosome in one case, and a deletion in the region of introns 49 and 50 on the paternal X chromosome in the other. The use of microsatellite genotyping within the DMD gene enables the detection of the mutant allele in female carriers. It is also a useful method to provide DMD families with more accurate genetic counseling.

• Asian Pacific Journal of Cancer Prevention
• /
• v.17 no.9
• /
• pp.4259-4265
• /
• 2016

Background: Colorectal malignancies with high microsatellite instability (MSI-H), either hereditary (Lynch syndrome) or sporadic, demonstrate better prognosis and altered response to 5FU chemotherapy. It is now recommended to perform MSI testing for all new cases of colorectal cancer regardless of being categorized as hereditary or sporadic. For MSI detection, immunohistochemistry or PCR-based protocols using a cohort of various sets of STR markers are recommended. Here we aimed to evaluate a simplified protocol using just a single STR marker, MT1XT20 mononucleotide repeat, for detection of MSI in Lynch syndrome patients. A Promega five-marker MSI testing panel and immunohistochemistry (IHC) were used as the gold standard in conjunction with MT1XT20. Materials and Methods: Colorectal patients with a positive history of familial cancers were selected by evaluating medical records. Based on Amsterdam II criteria for Lynch syndrome 20 families were short listed. DNA was extracted from formalin fixed paraffin embedded tumour and adjacent normal tissues resected from the index case in each family. Extracted DNA was subjected to MT1XT20 mononucleotide marker analysis and assessment with a commercially available five marker MSI testing kit (Promega, USA). IHC also was performed on tissue sections and the results were compared with PCR based data. Results: Eight (40%), seven (35%) and five (25%) cases were MSI positive using with the Promega kit, IHC and MT1XT20, respectively. Among the markers included in Promega kit, BAT26 marker showed instability in all 8 samples. NR24 and NR21 markers showed instability in 7 (87.5%), and BAT25 and MONO 27 in 6 (75%) and 5 (62.5%). Conclusions: Although MT1XT20 was earlier reported as a valid standalone marker for MSI testing in CRC patients, we could not verify this in our Iranian patients. Instead BAT26 among the markers included in Promega MSI testing kit showed instability in all 8 MSI-H CRC samples. Therefore, it seems BAT26 could act well as a single marker for MSI testing in Iranian CRC patients.

• Asian Pacific Journal of Cancer Prevention
• /
• v.15 no.2
• /
• pp.905-910
• /
• 2014

Aims: To determine the status of women's perception and attitudes about cervical cancer and their thoughts on Kato's self-sampling device. Materials and Methods: This descriptive research was conducted between July-December 2012 with a study populationof married women older than 18 years. Results: A total of 246 women volunteered, with a mean age of $34.9{\pm}9.22$ (19-52). In the last year, 52.0% had been examined by a gynecologist to address a complaint or for a periodic health check. Of the 118 who had not had a gynecological examination, 42.4% indicated negligence, 26.3% stated the reason was no complaint, 14.4% feared they might receive bad results from the examination, and 8.5% stated that were shy or embarrassed. Of all of the women, 35.0% answered that they had information about cervical cancer, and 0.7% had heard about the HPV vaccine. No one in their families had received the vaccine. Of the women, 28.5% had had a Pap smear, and 71.4% of those had normal results. Of those who had never had a Pap smear, 47.2% had never heard about the test; 18.8% explained the reason for not having a test as shyness or embarrassment with a male doctor. None of the women had heard about Kato's device. Once the women were informed, 73.6% expresseed interest in use; 51.9% answered they could use it and not be embarrassed, 30.9% would use it because they did not have to see a doctor, and 17.1% would use it as it allows them to take a smear in all conditions and whenever they want. Of the women, 60.0% thought that they could not successfully use Kato's device; 40.0% thought that a smear should be taken by a doctor. Conclusions: Most of the women in our population had never had a Pap smear and wanted to use the Kato's device.

• Korean Journal of Community Nutrition
• /
• v.14 no.5
• /
• pp.483-494
• /
• 2009

In order to give basic data to teenager's healthcare, we investigated the food habits according to BMI (Body Mass Index), life style, dietary related self-efficacy and food intake through conducting a research surveying 732 middle school students of the Kwang-ju and Chonnam areas. The results of this study were compared groups in under weight (UW), normal weight (NW), and overweight (OW) groups according to BMI levels. In the male students, height was significantly differently in the UW group as $158.2\pm0.7$ cm compared to other NW and OW groups respectively as $163.7\pm0.6$ cm and $162.6\pm0.7$ cm but in the female students there was no significantly difference within groups. Weight was significantly different between the groups in the male students, whereas there were minor differences in the female students. The average of BMI was $20.7\pm0.1$ on the male students and $20.6\pm0.1$ on the female students which were all within the average, and their obesity was increased as the school grade was higher. Under less than 30,000 won of pocket money was dominating, and most of the students were in a nuclear family. In all male and female students, the inactive hours like watching TV and using computers had no differences between groups. The difference between groups was minor on breakfast time and most of the students thought their problems on unbalanced diet. There was significant difference in the OW group in female students as they thought their problems on unbalanced diets. The frequency of snack was significantly low in the OW group of male students but there were no differences in snack and eating-out food. All students chose fruits as snack food and Korean-style food as eating out food. The OW group in male students were significantly low in the dietary related self-efficacy when they were with their families and feeling depressed but there were no differences in female students between groups. When all students were getting higher BMI, they evaluated themselves badly in their self-dietary habits. Also the more male students had non-physical activity time, the less they had the dietary related self-efficacy and the more female students had physical activity time, the higher they had the dietary related self-efficacy. In conclusion, the OW group had good habits in physical activities for weekends, meal times, frequency of snack consumption but it showed undesirable when they were low in dietary related self-efficacy. Therefore we will provide the systematic nutrition education to them through this study.

• Korean Journal of Hospice Care
• /
• v.5 no.1
• /
• pp.42-49
• /
• 2005

To determine which are the culturally specific factors of Korean bereavement, this chapter focuses on the view of death and the traditional mourning process which reflect Korean values and norms. The formation of the Korean view and understanding of death has been strongly influenced by three of its major traditional religions: Shamanism, Buddhism, and Confucianism (Park:1994: Hao:1999) and Christianity more recently. Each religion has a different view of death and the appropriate expression of mourning. Korea accommodates funeral customs and rules strictly as a cultural system and has retained these traditions over a long period; hence, some of the traditional funeral rituals still remain in modern Korean life, although some of the rites have been simplified. We have looked at the various ways in which grief and mourning is displayed and shared in a collective manner over a long period of time. This fits in well within the other Eastern cultures that are collectively organized, and contrary to the Eurocentric models do not hastily seek to detach the living from the dead and recognize that grief is a long process, and different individuals may take different amounts of time to recover from the grief. The view of death and bereavement in Korea has sprung from the roots of three Korean religions, together with the recent addition of Christianity, although they mainly result from the three earlier religions. The beliefs of these religions are still closely linked together in the rituals of Korean bereavement on both conscious and unconscious levels. The influence of these religions is evident in practice through the bereaved family's mourning reactions, funeral rites and customs and its views about death. Korea used to have a period of mourning for three years, following traditional mourning rites; then the chief mourner and the bereaved families could return to their normal life. In spite of this long mourning process for the bereaved family, once the funeral ceremony is finished, people expect the bereaved family not to express their grief in public; even the bereaved family does not like to talk about death. The process for bereaved people is related to mourning processes in terms of detachment from the deceased in order to start a new life. Relatives and the community recommend the performance of the kut ceremony for relieving the grief of the bereaved. When one family member dies in an unlucky way, the bereaved family may have some fear or other psychological reactions of grief such as pain, depression, insomnia and nightmares, hallucinations or other physical reactions. Unlucky deaths give the bereaved a very painful time and these types of reactions are often more serious than reactions to natural death. But through the kut ceremony, the bereaved family can start to make a new relationship with the deceased. The taboo of this type of death and death generally remains a crucial aspect of the isolation that bereaved people might face and the collective nature of mourning(even where it is still present) is unable to address this aspect of the privatization of grief.