• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.17 no.3
• /
• pp.92-95
• /
• 2017

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by an ${\alpha}$-galactosidase A (GLA, MIM 300644) enzyme deficiency due to pathogenic variants in the ${\alpha}$-galactosidase A gene (GLA). The disease leads to accumulation of globotriaosylceramide (Gb3) and related glycophospholipids affecting nearly all major organ systems, with the primary sites damaged by Gb3 including renal glomeruli, myocardium, neurons of the dorsal ganglion and autonomic nervous system, and vascular endothelial and smooth muscle. Progressive deposition in these organ systems present with various clinical manifestations including acroparesthesia, renal failure and heart failure. Here, we report a Chinese male diagnosed with Fabry disease in his late $4^{th}$ decades showing improvement of acroparesthesia during enzyme replacement therapy (ERT). A 48-year-old Chinese man who presented with chronic recurrent severe burning pain in his fingers and toes since the age of 10, with worse involvement of the former visited to our clinic for further evaluation. His medical history included a transient ischemic attack aged 40 and diagnosed with stage 4-5 chronic kidney disease aged 47. In the family history, the patient's brother was found to be have Fabry disease 1 month before his visit. Except for his brother, all other members of the family are healthy. Based on his medical history and family history, he was strongly suspicious for Fabry disease. He was found to have a galactose-alpha-1,3-galactose level 4.96 (Reference range, 42.5-67.9) suggestive of Fabry disease. The followed sequencing of GLA coding region in our patient revealed hemizyosity for the mutation c.988C>T (Q330X) in Exon 7. Since ERT start, he showed significant improvement in his symptoms of burning sensation of fingers and toes. On the contrary, due to deteriorating kidney function even with ERT, he is considered for kidney transplantation. Despite of diagnostic delay until late 4th decades, ERT showed a potential improvement of acroparesthesia in our patient. However, late start of ERT can lead to poor outcome in multiorgan function. Therefore, early diagnosis with high index of suspicion followed by continuous ERT with regular monitoring have an impact on quality of life in Fabry disease.

• The Korean Nurse
• /
• v.33 no.5
• /
• pp.63-75
• /
• 1995

The need of oriental nursing role is recently increasing. The implication of this trend is enormous not only for the need of independent of independent oriental nursing intervention. Hence, this study was designed to describe the characteristics of oriental nursing activity and identify the meaning of nursing activity in oriental hospital. A total of 24 nurses were selected by convenience sampling from eight units at one oriental hospital. A total of 168 data were collected using minute-by-minute recording during nurse s work shift. The data were analyzed using nova and scheffe method as post-hoc test The results of this study are as follows; 1. the category of nursing activity in oriental hospital 74.4% of nursing activity was the patient-oriented nursing care. The nursing activity included others (18.28%), the function-oriented nursing care (7.07%), and staff-oriented care (0.2%). 29.1 % of the patient-oriented nursing care was the direct care, and 24. 5 % of the patient-oriented nursing care was the indirect care. There was a lack of patient education and the communication patient. 2. Nursing activity in oriental hospital by characteristics 1) Nursing activity by unit For patient-oriented nursing care, there was a statistically significant difference among 8 units. In the critical care unit, the patient-oriented nursing care was mostly performed. For function-oriented nursing care, there was statistically significant difference among 8 units. In the physical therapy unit, the function-oriented nursing care was mostly performed. 2) Nursing activity in oriental hospital For all kinds of nursing activity, there was a statistically significant difference between shifts. In night shift patient-oriented nursing care, function-oriented nursing care, and other kinds of nursing care was mostly performed. Patient-oriented nursing care included indirect care, treatment set management, and the breaktime. In day shift, staff-oriented nursing care was performed. 3) Nursing activity in oriental hospital For all kinds of nursing activity, there was not a statistically significant difference by day. The day has not impact on nursing activity. 3. the meaning of activity in oriental hospital The results of this study show that the patient-oriented care was vital check, input! output check, medication, bedsore prevention, nasogastric feeding, oral care, catheterization care, perinatal care, nursing care associated with acupuncture and moxacautery, observation (fever, sweating), heat and cold application communication with patent and family, and patient room management In conclusion, two issues associated with the findings of the research appeated to be involved in the difficulty of nursing activity in hospital. The first issue was the nursing care in oriental hospital provided by nurses who have a limited understading of the principles of oriental medicine. The second issue was the deficiency of systematic guideling for oriental nursing activity. The findings suggest the need to develop the systematic guideline for oriental nursing activity. The need of continuing education for nurses who work in the oriental hospital, and the need of nursing education including oriental nursing are critical.

• Journal of Korean Academy of Nursing
• /
• v.3 no.1
• /
• pp.41-51
• /
• 1972

In this article, the writer attempted to study the followings: (1) mother's knowledge of milk feeding (including method of sterilization, formula and feeding) (2) reasons of artificial feeding (3) how much mothers are concerned about their artificial feeding infants (4) condition of growth and development of artificial feeding infants. As the object of study, 96 mothers with artificial feeding infants, who had consulted dep't of pediatrics of two Hospitals in Seoul (Korea Hospital and Med. College Woo Suk Hospital, Korea Uni.) and well baby clinic of the two Health Centers (Sung Dong and Dongdaemoon), were randomly sampled. The data were treated by the statistic method of chi-square and percentage, and come to the following conclusion. 1. Knowledge of milk feeding Sterilization: 70 percentages of mothers know about the milk sterilization (including bottle, nipple and instrument), but 55 percentages of them do not know the nipple sterilization correctly. Formula: 69 percentages of mothers follow the indicator or in accordance with doctor's directions, but 31 percentages do at their option by reasons that the baby often coughs up the milk, the baby is too small, the baby often has digestive troubles, or the baby grow fleshy heavily etc, except family economic problems. Feeding: only half of mothers know the correct feeding method, especially they do not know how to determine the heat degree of milk and how to bubble up the baby correctly. They just do feeding according to the accepted usages. 2. Reasons of artificial feeding Of the reasons of artificial feeding, 18 percentages were caused by infants and 82 percentages by mothers. Most of the reasons are mainly due to the lack of breast milk and sufficient supply of nourishments rather than mother's deficiency or mother's abnormality. 3. Mother's concern for artificial feeding infants Mothers who are sharply concerned for their artificial feeding baby's growth and development: 63%, mothers who made the baby (artificial feeding infant) routine vaccinated: 81%, mothers who ear anxious about the baby's future personality forming : 68%, mothers who care about the baby's condition of nourishment; 60%, mothers who are anxious about tile selection of baby's food; 54%. 4. The growth and development of artificial feeding infants compared with Korean average infants. The artificial feeding infants are above the Korean average infants in stature by 1.21 centimeters and in weight by 0.3 kilograms. Conclusion: It has been said that there is no better food for infant than the breast milk. However, the artificial feeding has been used for the supplement of nourishments and as substitute food for the breast milk. And this artificial feeding could give the married women the chance to act in society and more opportunity to develop themselves and to work for others at home and other fields. Considering these advantages, artificial feeding should not be exclusive, but preferably should be more improved and inquired positively. And even in artificial feeding, what is most important is that mothers should recognize the requirement and need of artificial feeding clearly and correctly, and they should be accustomed to the correct knowledge and skills of artificial feeding in order to practice it appropriately. In some degree, they should be properly trained in school education process.

• Journal of Korean Public Health Nursing
• /
• v.13 no.2
• /
• pp.26-44
• /
• 1999

The study was done to improve the job training course for Community Health Practioners (CHPs) by evaluating the level of help that the training provided to the CHPs in carrying out their work and to analyze the management activities of the CHPs in order to develop a more effective CHP training program. The methodologies used in the study were a questionnaire survey. The survey results were analyzed using SPSS Windows. The study results are as follows. 1. The total average level of help from the job training(Theory. Practice and Field Practice) for carrying out the CHP work was found to be $3.04\pm.53$ (of a possible 4), which indicates a high level of help. The average for clinical practices was $3.16\pm.60$. for theory. $3.11\pm.40$ and for field practice. $2.84\pm.60$. 2. For the theory content of the job training courses. the help level was low in the area of mother and child health management/family planning with an average of $2.65\pm.62$ and in the area of health information system development with an average of $2.62\pm.83$. The reason for these deficiencies were. in order of frequency. few opportunities to apply learning. training content that was inadequate. training methodologies which were incongruent with content. improper training items and insufficient class hours. For the practice. the clinical work in rehabilitation/orthopedics departments and in ENT/Opthalmology departments had averages of $2.96\pm.86$ and $2.97\pm.80$ respectively. This low level resulted from the lack of direct experience. lack of sincerity during the practice time. lack of practice guidance. insufficient time and lack of practice equipment. in that order. For the field practice. the delivery management averaged $2.06\pm.90$ as the lowest help level. In this case 68% of respondents replied that there were no relevant reasons for this deficiency. 21% responsed that there was a lack of direct experience, 7%, a lack of practice guidance and 4.8%, insufficient time. 3. There were significant differences for several demographic variables when comparing the help level of the clinical courses (practice and Field Practice). A higher help level was reported by older nurses as compared to younger ones, experienced nurses as compared to scholarship nurses, and married over single. Also for nurses who had finished more other programs and were qualified or licensed in several areas the level was high. Although it was not statistically significant the level was higher if the work area was in a rural county, not a city, and if one had more recently completed the job training(P<,05). 4. Of the respondents 58.6% replies stated the period of job training for the CHP was adequate, but 51.7% reported that the period for theory courses was too short while an other 48.3% responded that it was sufficient. For practice locations, 50% responsed that it was good to practice in medical institutions(primary, secondary and tertiary) at the same time. While 48.3% agreed that doing theory and practice simultaneously was good, and 56.9% agreed that field practice should be done after completing theory and practice training. Hence, the development of new field practice guidelines suitable for changing environments of health management are required in place of the existing ones which were considered low in help level to the practical work of the CHPs.

• The Korean Society of Law and Medicine
• /
• v.9 no.1
• /
• pp.319-382
• /
• 2008

As a withdrawing care's study, the purpose of this study is searching about withdrawing care's acceptance and circumstances through Bora-mae hospital case(chapter 1). Withdrawing life-sustaining treatment has various forms. Though the meaning of euthanasia, death with dignity, natural death, physician assisted suicide are duplicated, the meaning of those are different slightly. Firstly, this study looks about the difference of the those meaning and acceptance range(condition) by withdrawing care's forms(chapter 2). Bora-mae hospital case sentenced guilty about physician who discharged incompetent patient who was after surgery by patient's wife determination. This Bora-mae case that sentenced guilty about discharge against medical advise(DAMA) that is regarded to custom has brought intensive confliction of legal, social, medical aspect, Bora-mae hospital case has many legal problems. First, as to criminal law rule 250(murder), the problem is whether discharge and withdrawing life-sustaining treatment is commission or omission. this study concluded omission(district court: omission, appeal, supreme court: commission). Because legal denounce point of discharge and medical treatment withdrawing is omission that physician who is obligatory on patient to cure. If physician's act is regarded omission, it is necessary to determine whether he has guardian status and obligation. Without guardian status and obligation, omission crime can't exist. This study decided that physician had guardian status and obligation and foundation of guardian status was pre-action or acceptance of emergency patient. Physician's medical treatment duty finished when patient(or patient's guardian) demands discharge. But when patient death is foreseen and other possible treatment does not exist, his duty of life prolonging treatment does not finish. This originate from physician's social responsibility and public status that limits patient's private liberty. This study regarded physician's action as accomplice about whether physician's discharging action is accomplice or the principal offender(district court: the principal offender, appeal, supreme court: accomplice). Though the principal offender needs criminal determination and action, there is no this common determination and functional action control of physician in Bora-mae case(chapter 3). Bora-mae hospital case partly originated from deficiency of legal, institutive system including medical security system shortage, the instruction is 1. medical security system strengthening, 2. hospital ethical committee's activity strengthening, 3. institutionalization of withdrawing life-sustaining treatment, 4. acceptance of pre-decision making system, 5. sufficient persuasion of physician for patient and faithful writing of medical paper, 6. respect for patients' self-determination and rights, 7. consciousness's changing for withdrawing life-sustaining treatment and persistent education about medical ethics(chapter 4). Considering Bora-mae case, medical sector is not the dead ground of a criminal punishment. Intervention of criminal law in medical sector give rise to ill effect, that is, excess medical examination and treatment, safeguard treatment, delay of discharge from a hospital. Because sufficient guarantee of life becomes mere empty slogan under situation that impose a burden of heavy cost to family or hospital, public and systematic solution should be given(chapter 5).

• Korean Journal of Community Nutrition
• /
• v.15 no.3
• /
• pp.329-341
• /
• 2010

The purpose of this study was to examine vegetable & fruit (V/F) intakes, beliefs and self-efficacy regarding V/F consumption, nutrition knowledge and eating behavior of elementary students. A survey was conducted to the 4th graders (n = 234) at two elementary schools in Guri, Kyunggi-do. About one-fourth of subjects were overweight or obese. Subjects had 4.2 servings of V/F a day, consuming 340.2 g of V/F. Girls consumed significantly more amounts of vegetables than boys (p < 0.05). Girls were more favorable regarding V/F consumption (p < 0.01), and believed more strongly on advantages of having V/F such as “good for skin” constipation prevention (p < 0.001) and cancer prevention (p < 0.05). Boys felt more strongly in disadvantages or barriers of eating V/F, including mother's cooking time constraints (p < 0.01), lack of past experience of eating V/F, and family members' disliking of V/F (p < 0.05). Girls felt more confident in eating V/F (p < 0.05) than boys; they also felt more confident in specific items of "eating fruits/salads instead of cookies/chips for snack" and "eating fruit juice/vegetable juice instead of soda"(p < 0.01). Subjects showed low level of nutrition knowledge, especially in items such as balanced meals, recommended servings of V/F and vitamin deficiency. Compared to boys, girls had more desirable eating behavior such as eating adequate amount of meals (p < 0.001), having a variety of foods, eating fruits daily, and having fatty foods less frequently (p < 0.05). Intakes of Ca and K were quite below the recommended level, while the intakes of protein, Na and vitamin A intake were much above the Dietary Reference Intakes (DRI) for 9-11 old children. Nutrient intakes expressed as %DRI was higher in girls for vitamin A (p < 0.01), energy and riboflavin (p < 0.05). High V/F consumption group (${\geq}5$ servings of V/F a day) compared to the counterparts showed higher self-efficacy and had better eating behaviors. Nutrition education for children should focus on increasing consumption of V/F, by helping them to increase self-efficacy for eating V/F and to recognize the benefits and reduce the barriers of eating V/F, especially in boys. It is also needed to provide nutrition information for balanced meals or increasing V/F consumption, and help the children to adopt desirable eating behavior.

• Journal of Life Science
• /
• v.30 no.8
• /
• pp.672-679
• /
• 2020

Distal myopathy is a clinically and genetically heterogeneous group of degenerative diseases of the distal muscle. Glycogen storage disease type IXD (GSD9D) is a metabolic distal myopathy characterized by muscle deficiency of phosphorylase kinase, a key regulatory enzyme in glycogen metabolism. Affected individuals may develop muscle weakness, degeneration, and cramps, as well as abnormal muscle pain and stiffness after exercise. It has been reported that mutations in the PHKA1 gene which encodes the alpha subunit of muscle phosphorylase kinase cause GSD9D. In this study, we examined a Korean GSD9D family with a c.3314T>C (p.I1105T) mutation in the PHKA1 gene. This mutation has not been previously reported in any mutation database nor was it found in 500 healthy controls. The mutation region is well conserved in various other species, and in silico analysis predicts that it is likely to be pathogenic. To date, only seven mutations in the PHKA1 gene have been documented, and this is the first report of Korean GSD9D patients. This study also describes and compares the clinical symptoms and pathological conditions of previously reported cases and these Korean patients. We believe that our findings will be useful for the molecular diagnosis of GSD9D.

• Clinical and Experimental Reproductive Medicine
• /
• v.47 no.3
• /
• pp.194-206
• /
• 2020

Objective: The aim of this study was to investigate microRNAs (miRNAs) related to follicle-stimulating hormone (FSH) responsiveness using miRNA microarrays and to identify their target genes to determine the molecular regulatory pathways involved in FSH signaling in KGN cells. Methods: To change the cellular responsiveness to FSH, KGN cells were treated with FSH receptor (FSHR)-specific small interfering RNA (siRNA) followed by FSH. miRNA expression profiles were determined through miRNA microarray analysis. Potential target genes of selected miRNAs were predicted using bioinformatics tools, and their regulatory function was confirmed in KGN cells. Results: We found that six miRNAs (miR-1261, miR-130a-3p, miR-329-3p, miR-185-5p, miR-144-5p and miR-4463) were differentially expressed after FSHR siRNA treatment in KGN cells. Through a bioinformatics analysis, we showed that these miRNAs were predicted to regulate a large number of genes, which we narrowed down to cytochrome P450 family 19 subfamily A member 1 (CYP19A1) and estrogen receptor alpha (ESR1) as the main targets for miR-4463. Functional analysis revealed that miR-4463 is a regulatory factor for aromatase expression and function in KGN cells. Conclusion: In this study, we identified differentially expressed miRNAs related to FSH responsiveness. In particular, upregulation of miR-4463 expression by FSHR deficiency in human granulosa cells impaired 17β-estradiol synthesis by targeting CYP19A1 and ESR1. Therefore, our data might provide novel candidates for molecular biomarkers for use in research into poor responders.

• International journal of advanced smart convergence
• /
• v.9 no.1
• /
• pp.54-62
• /
• 2020

According to the Ministry of Health and Welfare, "Status of Registered Persons with Disabilities", the number of people with disabilities is 2,494,460 as of 2015. The lowest rates of children with disabilities were intellectual disabilities (23%) and mental disorders (33.3%). The highest rates of screening were blindness (97%), heart failure (94.4%), and hearing impairment (92.7%). 65.2% of visually impaired people who have already had a disability at the time of marriage, and the remaining 34.8% can be thought to be the cause of high incidence of disability after marriage. 'SID (Seed in the Dark)' project was designed to recapture the visually impaired parent's desire for attachment and the space difficulties of the blind who want to be a normal parent to their children through a visual impairment of a father with 7-year-old daughter. Using Gear VR(Virtual Reality), the general public was able to feel the surroundings as if they had no vision and focused on the hearing. Especially, We expressed the sound wave visually and added the hilarious game element which grasps the terrain of the maze by sound wave like a 'blind person who perceives the surroundings by sound' and catches up with daughter. People with disabilities who are far from mental illness often have a form of family with children. The fact that the rate of childbirth is high means that there is relatively little problem in daily life. It is wondered that the rate of blindness among the visually impaired, which accounts for 10% of the total disabled, is the highest at 97%. This is because, in the case of the visually impaired, the obstacle is often caused by aging, accidents, or diseases due to inherited causes rather than the visual disorder. In particular, However, the fact that there is an obstacle in vision that accounts for 83% of the body's sensory organs causes other difficulties in the nursing process of children who are non-disabled. Parents do not know the face of child when their visual impairment is severe. Parents are extremely anxious about worry that they will be lost or abducted if their children are not by their side. And that the child recognizes the disability of his or her parents other than the other parents easily and takes it as a deficiency. Since visually impaired parents are mentally mature parents with non-disabled people, they may want their children not to feel deprived of their disability. The number of people with visual impairments has been increasing since 2001, and people with impairments often become disabled. In addition, there is much research on the problem of nondisabled parents who have children with disabilities, while there is relatively little interest and research on the problem of nondisabled child rearing of parents with disabilities.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.16 no.1
• /
• pp.52-56
• /
• 2016

Propionic acidemia (PA) is a rare autosomal recessive metabolic disease caused by the deficiency of propionyl-CoA carboxylase (PCC). PA affects the catabolism of branched chain amino acid and oddchain fatty acid then results in accumulation of propionic acid and other metabolites in plasma and urine. Catabolic stress such as infection, illness or any stress can precipitate cause acute metabolic decompensation, especially in the first years of life. Acute metabolic decompensation commonly calls for emergency treatment or admission and if the patient is in a serious condition, it can lead to coma or death. But frequent admissions or visiting the emergency room are much burden to the patients and their kins. And we experienced the propionic academia with a confirmed novel mutation and the patient suffered from frequent admission and visiting the emergency room. So, we tried the regular home carebased fluid therapy after securing a central venous line. Finally, we succeeded in preventing frequent admissions resulted from acute metabolic decompensation and could contribute to relieving the burden to the patient and their family.