Phenylketonuria is metabolic disorder that results from a deficiency of the hepatic phenylalanine hydroxylase. But among patients with hyperphenylalaninemia, the defect resides in one of the enzymes necessary for production or recycling of tetrahydrobiopterin (BH4). The reduction of BH4 affects not only phenylalanine metabolism but also formation of the tyrosine related neurotransmitter, dopamin and tryptophan related neurotransmitter, serotonin. Administration of L-dopa and 5-hydroxytriptophan seems to be the most effective treatment and may prevent irreversible neurologic damage if started early in life in hyperphenylalaninemia due to deficiency of cofactor BH4. Therefore, all patients with PKU and hyperphenylalaninemia should be tested for BH4 deficiency as early as passible. So we measured reduced forms of biopterin in urines of 19 phenylketonuria patients by Funkushima and Nixon method and 13 of PKU patients measured dihydropterin reductase (DHPR) in white blood cells by modified Narisawa method. We could not find abnormal pterin patterns of cofactor BH4 and normal value of DHPR. All Korean 19 PKU children were classic PKU. A missense mutation has been identified in the phenylalanine hydroxylase (PAH) gene of 16 Koran PKU patients. 5 mutations (IVS4, Y204 C, R243Q, Y356 X, R413 P) have been identified. The frequency of these mutations was found to be 50% of PKU alleles. The IVS4 mutation had a high frequency in Korea and southern China, due to the result of the founder effect and genetic drift. the R413 P mutation, which may have originated in the regions surrounding the Baikal, expanded to northen China and Japan. We were not able to find Caucasian mutations in Korean ptiets. PKU mutations occured after racial divergence between Caucasian and Mongoloids. We observed that PKU patients with Y 204 C and R413 P mutations showed mild mild clinical phenotype but IVS4 mutation had severe mental retardation. the establishment of genotype will therefore aid in the prediction of clinical phenotypes in patients with this disease. So, pterin and DHPR measurement and DNA analsis will be useful for prognosis and proper treatment of PKU patients.
Alleles ; Biopterin ; Child ; China ; DNA* ; Founder Effect ; Genetic Drift ; Genotype ; Humans ; Intellectual Disability ; Japan ; Korea ; Leukocytes ; Levodopa ; Metabolism ; Mutation, Missense ; Neurotransmitter Agents ; Oxidoreductases ; Phenotype ; Phenylalanine ; Phenylalanine Hydroxylase ; Phenylketonurias ; Prognosis ; Recycling ; Reference Values ; Serotonin ; Tryptophan ; Tyrosine

No abstract available.
Phenylketonurias*

PURPOSE: This study was to examine the relationships between knowledge with same sub-areas of education needs and adherence to self-management guidelines, and to investigate the factors that influence adherence. METHOD: One hundred eleven patients with terminal stage of kidney failure were conveniently selected from a university hospital in Incheon. RESULTS: The level of knowledge was high, with a mean score of 15.25. The level of adherence to self-management guidelines was low, with a mean score of 64.53. The patients' education needs were high. The significant influencing factors on adherence were gender, educational level, and two sub-areas of knowledge, 'exercise and daily life' and 'follow-up care and treatment'. CONCLUSION: Relationships between knowledge, education needs, and adherence should be further examined before developing and implementing intervention programs for adherence to treatment guideline in hemodialysis patients.
Humans ; Renal Dialysis ; Renal Insufficiency ; Self Care

As the coronavirus disease 2019 (COVID-19) has rapidly spread worldwide, there are growing concerns about patients' mental health. We investigated psychological problems in COVID-19 patients assessed with self-reported questionnaires including the Patient Health Questionnaire-9, Generalized Anxiety Disorder-7 scale, and Impact of Event ScaleRevised Korean version. Ten patients who recovered from COVID-19 pneumonia without complications underwent self-reported questionnaires about 1 month after discharge. Of them, 10% reported depression and posttraumatic stress disorder (PTSD) while 50% had depression during the treatment. Perceived stigma and history of psychiatric treatment affected PTSD symptom severity, consistent with previous emerging infectious diseases. Survivors also reported that they were concerned about infecting others and being discriminated and that they chose to avoid others after discharge. Further support and strategy to minimize their psychosocial difficulties after discharge should be considered.

PURPOSE: To report a case of trichofolliculoma in the upper eyelid. METHODS: An excisional biopsy of the nodule was done on a 62-year-old male, who had a small, nodular, non-tender mass on the right upper eyelid. RESULTS: We confirmed typical trichofolliculoma which was composed of large central cystic hair follicle with many small hair follicles branching from the wall.
Biopsy ; Eyelids* ; Hair Follicle ; Humans ; Male ; Middle Aged

Objective: This study aimed to evaluate the correlation between obesity and pelvic organ prolapse (POP), both anatomically and symptomatically, in Korean women. Methods: We retrospectively reviewed 476 women who visited the urogynecology clinic between January 2013 and December 2016. All the enrolled women were Korean. We sought to evaluate the relationship between obesity and POP, both anatomically and symptomatically, by using a validated tool. Anatomic assessment was performed by a standardized Pelvic Organ Prolapse Quantification (POP-Q) system and symptomatic assessment was performed by a Pelvic Floor Distress Inventory (PFDI)-20 questionnaire. Obesity measurement was performed by measuring body mass index (BMI). Results: We enrolled 476 women in our study. There was no statistically significant correlation between BMI and POP-Q or PFDI-20 scores: Ba (P=0.633), Bp (P=0.363), C (P=0.277), Pelvic Organ Prolapse Distress Inventory-6 (P=0.286), Colorectal Anal Distress Inventory-8 (P=0.960), Urinary Distress Inventory-6 (P=0.355), and PFDI-20 (P=0.355). In addition, there was no statistically significant correlation between BMI and POP-Q or PFDI-20 in patients with severe (greater than stage III) POP. We also separately analyzed the differences in the POP-Q points and PFDI-20 scores between the obese and non-obese groups. There was no statistically significant difference between the groups. Conclusion We evaluated the correlation between obesity and POP using a validated tool. The present study revealed no significant correlation between obesity and POP severity anatomically or symptomatically in Korean women. This contrasts the results of most studies of Western women. Further studies in Asian women are required in order to confirm our results.

Objective: This study aimed to evaluate the correlation between obesity and pelvic organ prolapse (POP), both anatomically and symptomatically, in Korean women. Methods: We retrospectively reviewed 476 women who visited the urogynecology clinic between January 2013 and December 2016. All the enrolled women were Korean. We sought to evaluate the relationship between obesity and POP, both anatomically and symptomatically, by using a validated tool. Anatomic assessment was performed by a standardized Pelvic Organ Prolapse Quantification (POP-Q) system and symptomatic assessment was performed by a Pelvic Floor Distress Inventory (PFDI)-20 questionnaire. Obesity measurement was performed by measuring body mass index (BMI). Results: We enrolled 476 women in our study. There was no statistically significant correlation between BMI and POP-Q or PFDI-20 scores: Ba (P=0.633), Bp (P=0.363), C (P=0.277), Pelvic Organ Prolapse Distress Inventory-6 (P=0.286), Colorectal Anal Distress Inventory-8 (P=0.960), Urinary Distress Inventory-6 (P=0.355), and PFDI-20 (P=0.355). In addition, there was no statistically significant correlation between BMI and POP-Q or PFDI-20 in patients with severe (greater than stage III) POP. We also separately analyzed the differences in the POP-Q points and PFDI-20 scores between the obese and non-obese groups. There was no statistically significant difference between the groups. Conclusion We evaluated the correlation between obesity and POP using a validated tool. The present study revealed no significant correlation between obesity and POP severity anatomically or symptomatically in Korean women. This contrasts the results of most studies of Western women. Further studies in Asian women are required in order to confirm our results.

Purpose: Childhood obesity has become a social problem due to the social distancing necessitated by the coronavirus disease 2019 pandemic. This study aimed to identify the dietary problems of obese children through various dietary assessment methods and to confirm the usefulness of each method. Methods: The subjects were 88 students in the 4th to 6th grade of elementary school who participated in the nutrition camp organised by the Busan Metropolitan Office of Education, 2020. To evaluate dietary problems and assess diet quality, 24-hour meal records, monthly food intake frequency, and Dietary Screening Test (DST) data were analyzed. Results: Of the subjects, 15.7%, 30.3%, and 53.9% were normal weight, overweight, and obese, respectively. The average age was 11.77 ± 0.77 years and the average body mass index was 23.96 ± 3.01 kg/m 2 . It was observed from the 24-hour meal record method that the overweight and obese subject groups consumed fewer green vegetables (p < 0.001) and white vegetables (p < 0.01) than the normal weight group. In the monthly food intake frequency method, the consumption of ramen (p < 0.01), snacks (p < 0.05), and sausages (p < 0.05) were high in the obese group, and that of anchovies, broccoli, and sweet pumpkin was high in the normal group (p < 0.05). The comparative data from the DST revealed that the overweight and obese groups had less vegetable intake than the normal weight group (p < 0.01) and had higher intakes of dairy products, fast food, and sweet snacks (p < 0.05). Conclusion The usefulness of each method in the dietary evaluation of obese children was confirmed. To address the problem of obesity, it is necessary to evaluate the dietary problem and approach it with a customized solution tailor-made for the individual subject.

Dental caries and periodontal disease are considered to be chronic, but can be prevented through an incremental oral health program covering all ages. The National Oral Health Program for adults provides oral health exam and scaling, and is covered by national health insurance for those over 20 years of age in Korea. The aim of this study was to collect basic data for developing an oral health program for adults by identifying factors related to awareness and need. The data were obtained by convenience sampling of 303 subjects. The use of dental plaque disclosing agents affected tooth brushing frequency, toothbrushing time and use of oral auxiliary devices. Education on toothbrushing methods affected toothbrushing time and use of oral auxiliary devices. Of those surveyed, 93.1% replied that an incremental oral health program for adults was needed, and 68.0% intended to participate. In a regression model, the factors that had an effect on the perceived need for an oral health program were education level, use of oral hygiene auxiliary devices, and toothbrushing time, and the factors affecting intent to participate were education for prevention of periodontal disease and the use of oral hygiene auxiliary devices. The subjects stated that the following oral health programs were needed: an oral bacteria exam (74.3%), toothbrushing education (71.6%), a bad breath exam (69.3%), education on use of oral hygiene auxiliary devices (46.9%), a dental plaque exam (42.9%) and a saliva exam (37.6%). Oral health education appears to be an important factor for participation in an incremental oral health program.
Adult* ; Bacteria ; Dental Caries ; Dental Plaque ; Education ; Humans ; Korea ; National Health Programs ; Oral Health* ; Oral Hygiene ; Periodontal Diseases ; Program Development ; Saliva ; Tooth ; Toothbrushing

The lung nodule is one of the pleuropulmonary menifestations in rheumatoid arthritis. We report here a case exhibiting hydropneumothorax due to a bronchoplerual fistula resulting from a ruptured rheumatoid lung nodule complicated with a aspergilloma in it. A 39 year-old man with rheumatoid arthritis was admitted because of cough for one month. Multiple subcutaneous nodules were noted and multiple lung nodules were seen on chest X-ray, Peripheral white cells were 9,600/mm3 with 1896 of eosinophils. The percutaneous needle aspiration biopsy of the largest lung nodule of right upper lobe showed massive necrosis without acid fast bacillus, fungus, or malignant cell. Three months after discharge, air-meniscus sign was seen on the biopsied lung nodule on X-ray. Five months later, the patient was readmitted due to dyspnea and chest pain and simple chest X-ray showed hydropneumothorax on the right side. The pneumothorax was not healed after closed thoracotomy and tube drainage, and high fever developed. The pleural fluid culture revealed Pseudomonas aeroginosa and Aspergillus fumigatus. Seventy days after admission, exploratory thoracotomy was done. Aspergilloma was found in the cavitated lung nodule which was ruptured into the pleural cavity through bronchopleural fistula.
Adult ; Arthritis, Rheumatoid* ; Aspergillus fumigatus ; Bacillus ; Biopsy, Needle ; Chest Pain ; Cough ; Drainage ; Dyspnea ; Eosinophilia* ; Eosinophils ; Fever ; Fistula* ; Fungi ; Humans ; Hydropneumothorax ; Lung* ; Necrosis ; Needles ; Pleural Cavity ; Pneumothorax ; Pseudomonas ; Thoracotomy ; Thorax