• Journal of Preventive Medicine and Public Health
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• v.7 no.1
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• pp.29-94
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• 1974

Today most developed countries provide modern medical care for most of the population. The rural area is the more neglected area in the medical and health field. In public health, the philosophy is that medical care for in maintenance of health is a basic right of man; it should not be discriminated against racial, environmental or financial situations. The deficiency of the medical care system, cultural bias, economic development, and ignorance of the residents about health care brought about the shortage of medical personnel and facilities on the rural areas. Moreover, medical students and physicians have been taught less about rural health care than about urban health care. Medical care, therefore, is insufficient in terms of health care personnel/and facilities in rural areas. Under such a situation, there is growing concern about the health problems among the rural population. The findings presented in this report are useful measures of the major health problems and even more important, as a guide to planning for improved medical care systems. It is hoped that findings from this study will be useful to those responsible for improving the delivery of health service for the rural population. Objectives: -to determine the health status of the residents in the rural areas. -to assess the rural population's needs in terms of health and medical care. -to make recommendations concerning improvement in the delivery of health and medical care for the rural population. Procedures: For the sampling design, the ideal would be to sample according to the proportion of the composition age-groups. As the health problems would be different by group, the sample was divided into 10 different age-groups. If the sample were allocated by proportion of composition of each age group, some age groups would be too small to estimate the health problem. The sample size of each age-group population was 100 people/age-groups. Personal interviews were conducted by specially trained medical students. The interviews dealt at length with current health status, medical care problems, utilization of medical services, medical cost paid for medical care and attitudes toward health. In addition, more information was gained from the public health field, including environmental sanitation, maternal and child health, family planning, tuberculosis control, and dental health. The sample Sample size was one fourth of total population: 1,438 The aged 10-14 years showed the largest number of 254 and the aged under one year was the smallest number of 81. Participation in examination Examination sessions usually were held in the morning every Tuesday, Wenesday, and Thursday for 3 hours at each session at the Namchun Health station. In general, the rate of participation in medical examination was low especially in ages between 10-19 years old. The highest rate of participation among are groups was the under one year age-group by 100 percent. The lowest use rate as low as 3% of those in the age-groups 10-19 years who are attending junior and senior high school in Taegu city so the time was not convenient for them to recieve examinations. Among the over 20 years old group, the rate of participation of female was higher than that of males. The results are as follows: A. Publie health problems Population: The number of pre-school age group who required child health was 724, among them infants numbered 96. Number of eligible women aged 15-44 years was 1,279, and women with husband who need maternal health numbered 700. The age-group of 65 years or older was 201 needed more health care and 65 of them had disabilities. (Table 2). Environmental sanitation: Seventy-nine percent of the residents relied upon well water as a primary source of dringking water. Ninety-three percent of the drinking water supply was rated as unfited quality for drinking. More than 90% of latrines were unhygienic, in structure design and sanitation (Table 15). Maternal and child health: Maternal health Average number of pregnancies of eligible women was 4 times. There was almost no pre- and post-natal care. Pregnancy wastage Still births was 33 per 1,000 live births. Spontaneous abortion was 156 per 1,000 live births. Induced abortion was 137 per 1,000 live births. Delivery condition More than 90 percent of deliveries were conducted at home. Attendants at last delivery were laymen by 76% and delivery without attendants was 14%. The rate of non-sterilized scissors as an instrument used to cut the umbilical cord was as high as 54% and of sickles was 14%. The rate of difficult delivery counted for 3%. Maternal death rate estimates about 35 per 10,000 live births. Child health Consultation rate for child health was almost non existant. In general, vaccination rate of children was low; vaccination rates for children aged 0-5 years with BCG and small pox were 34 and 28 percent respectively. The rate of vaccination with DPT and Polio were 23 and 25% respectively but the rate of the complete three injections were as low as 5 and 3% respectively. The number of dead children was 280 per 1,000 living children. Infants death rate was 45 per 1,000 live births (Table 16), Family planning: Approval rate of married women for family planning was as high as 86%. The rate of experiences of contraception in the past was 51%. The current rate of contraception was 37%. Willingness to use contraception in the future was as high as 86% (Table 17). Tuberculosis control: Number of registration patients at the health center currently was 25. The number indicates one eighth of estimate number of tuberculosis in the area. Number of discharged cases in the past accounted for 79 which showed 50% of active cases when discharged time. Rate of complete treatment among reasons of discharge in the past as low as 28%. There needs to be a follow up observation of the discharged cases (Table 18). Dental problems: More than 50% of the total population have at least one or more dental problems. (Table 19) B. Medical care problems Incidence rate: 1. In one month Incidence rate of medical care problems during one month was 19.6 percent. Among these health problems which required rest at home were 11.8 percent. The estimated number of patients in the total population is 1,206. The health problems reported most frequently in interviews during one month are: GI trouble, respiratory disease, neuralgia, skin disease, and communicable disease-in that order, The rate of health problems by age groups was highest in the 1-4 age group and in the 60 years or over age group, the lowest rate was the 10-14 year age group. In general, 0-29 year age group except the 1-4 year age group was low incidence rate. After 30 years old the rate of health problems increases gradually with aging. Eighty-three percent of health problems that occured during one month were solved by primary medical care procedures. Seventeen percent of health problems needed secondary care. Days rested at home because of illness during one month were 0.7 days per interviewee and 8days per patient and it accounts for 2,161 days for the total productive population in the area. (Table 20) 2. In a year The incidence rate of medical care problems during a year was 74.8%, among them health problems which required rest at home was 37 percent. Estimated number of patients in the total population during a year was 4,600. The health problems that occured most frequently among the interviewees during a year were: Cold (30%), GI trouble (18), respiratory disease (11), anemia (10), diarrhea (10), neuralgia (10), parasite disease (9), ENT (7), skin (7), headache (7), trauma (4), communicable disease (3), and circulatory disease (3) -in that order. The rate of health problems by age groups was highest in the infants group, thereafter the rate decreased gradually until the age 15-19 year age group which showed the lowest, and then the rate increased gradually with aging. Eighty-seven percent of health problems during a year were solved by primary medical care. Thirteen percent of them needed secondary medical care procedures. Days rested at home because of illness during a year were 16 days per interviewee and 44 days per patient and it accounted for 57,335 days lost among productive age group in the area (Table 21). Among those given medical examination, the conditions observed most frequently were respiratory disease, GI trouble, parasite disease, neuralgia, skin disease, trauma, tuberculosis, anemia, chronic obstructive lung disease, eye disorders-in that order (Table 22). The main health problems required secondary medical care are as fellows: (previous page). Utilization of medical care (treatment) The rate of treatment by various medical facilities for all health problems during one month was 73 percent. The rate of receiving of medical care of those who have health problems which required rest at home was 52% while the rate of those who have health problems which did not required rest was 61 percent (Table 23). The rate of receiving of medical care for all health problems during a year was 67 percent. The rate of receiving of medical care of those who have health problems which required rest at home was 82 percent while the rate of those who have health problems which did not required rest was as low as 53 percent (Table 24). Types of medical facilitied used were as follows: Hospital and clinics: 32-35% Herb clinics: 9-10% Drugstore: 53-58% Hospitalization Rate of hospitalization was 1.7% and the estimate number of hospitalizations among the total population during a year will be 107 persons (Table 25). Medical cost: Average medical cost per person during one month and a year were 171 and 2,800 won respectively. Average medical cost per patient during one month and a year were 1,109 and 3,740 won respectively. Average cost per household during a year was 15,800 won (Table 26, 27). Solution measures for health and medical care problems in rural area: A. Health problems which could be solved by paramedical workers such as nurses, midwives and aid nurses etc. are as follows: 1. Improvement of environmental sanitation 2. MCH except medical care problems 3. Family planning except surgical intervention 4. Tuberculosis control except diagnosis and prescription 5. Dental care except operational intervention 6. Health education for residents for improvement of utilization of medical facilities and early diagnosis etc. B. Medical care problems 1. Eighty-five percent of health problems could be solved by primary care procedures by general practitioners. 2. Fifteen percent of health problems need secondary medical procedures by a specialist. C. Medical cost Concidering the economic situation in rural area the amount of 2,062 won per residents during a year will be burdensome, so financial assistance is needed gorvernment to solve health and medical care problems for rural people.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.1
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• pp.11-17
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• 2017

Purpose: Phenylketonuria (PKU) results from a deficiency of phenylalanine hydroxylase (PAH). The mutation of the PAH gene results in decreased phenylalanine hydroxylase enzyme activity in hyperphenylalaninemia (HPA) patients. This study reports ten cases of patients with the benign HPA genotype c.158G>A (p.Arg53His, R53H) variant in the PAH gene and aims to evaluate the clinical significance of the R53H variant. Methods: Ten Korean patients with the HPA genotype the R53H variant were included in this study. A retrospective medical record review was conducted. We characterized the phenotypes of the patients with HPA with the R53H variant using the following system: classic PKU, moderate PKU, mild PKU, Mild HPA, and benign HPA. Results: Five patients had the R53H variant with the "Pathogenic" variants (R413P, R241C, $Y356^*$, c.442-1G>A, $Y325^*$), Two patients had the "Likely pathogenic" variants ($W187^*$, A259T), Two patients had the "Uncertain significance" variants (R53H, G344D), and One patient had the "Not provided" variant (c.1066-14C>G). Nine patients genotyped with the R53H variant were the patient with benign HPA and One patient genotyped with the R53H homozygote was within normal range of plasma phenylalanine. None of the ten patients required dietary restriction of phenylalanine or pharmacotherapy to maintain their plasma phenylalanine levels and showed no clinical symptoms of HPA. Conclusion: Ten patients with HPA genotype the R53H variant were the patient with benign HPA and showed no clinical symptoms of HPA. Thus, the R53H variant, which was previously classified as an "Uncertain significance" mutation in HPA patients, should be re-classified as "Benign."

• Korean Journal of Clinical Laboratory Science
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• v.49 no.2
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• pp.108-113
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• 2017

A sudden cardiac death (SCD) is defined as an unnatural sudden death caused by heart disease. To determine the cause of death, observation of the microscopic change in cardiac muscle tissue is suggested, rather than visual postmortem examination. However, this suggestion is time consuming to be applied in the field, is cost-ineffective, and is inconvenient. Therefore, the purpose of this study is to understand whether temporary inspection used to examine the cardiac marker (Myoglobin, CK-MB, cTn I) in postmortem blood via rapid cardiac triple test kit (which is used by clinics to diagnose patients with acute myocardial infarction) can effectively be utilized for the paragnosis of sudden, unnatural cardiac death. The results of postmortem examination and temporary investigation found that 23 groups (76.7%), among the 30 experimental groups, were assumed to be non-traumatic sudden cardiac deaths, which indicated a positive response (according to comparison with forensic autopsy); 4 groups, among the 10 control groups, were assumed to be cerebrovascular disease, which indicated a negative response; 1 group was assumed to be alcoholic and drug poisoning, indicating a positive response; and 1 group was assumed to be oxygen deficiency due to suffocation, indicating a positive response. Hence, it was found that the level of sensitivity and specificity of cardiac marker's temporary inspection showed significant result, 76.7% and 80% respectively. Given this, temporary inspection can be effectively used for the paragnosis of sudden cardiac death when the medical history, situation of the site, and postmortem interval are considered together. With the result of precedent research on time of first revelation and extinction in blood, and difference in concentration over time progress according to the characteristic of cardiac marker's (myoglobin, CK-MB, cTn I) individual material, further research on concentration of cardiac marker per each post time needs to be conducted in order to estimate time science death (which is required to identify the cause of death and investigation).

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.86-92
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• 2016

Purpose: The $BH_4$ loading test is an important test that distinguishes PKU from $BH_4$ deficiency and identifies the $BH_4$ reactivity of PKU patients. Phenylalanine and $BH_4$ loading tests are useful methods that can shorten the length of hospital stay while improving patients' convenience. However, sufficient research on the dose of phenylalanine loading and $BH_4$ administration time after the loading has not been carried out. The present study investigates the effectiveness of the existing phenylalanine loading method by analyzing the medical records of six patients who underwent the $BH_4$ loading test after taking 100 mg/kg of phenylalanine patients. Methods: The medical records of six patients who underwent the $BH_4$ load test after taking 100 mg/kg of phenylalanine were examined out of 207 patients who were followed up in the Genetic Metabolic Clinic in Soonchunhyang University Hospital. All of the six patients had a low phenylalanine diet. First, they were taking 100 mg/kg of phenylalanine. 3 hours later, 20 mg/kg of $BH_4$ were loaded. The phenylalanine levels in the blood were continuously measured at 1, 2, 4, 6, 8, 12, and 24 hours by setting the time the $BH_4$ was loaded as the basal. Results: The average of the highest phenylalanine concentrations of six patients was $20.0{\pm}11.70mg/dL$. One reached the highest concentration seven hours after taking phenylalanine; another reached it five hours after that, and the remaining three reached it four hours after that. Only one patient reached the highest concentration within three hours. The phenylalanine levels of four out of six patients (66%) rose above $400{\mu}mol/L$ after being loaded with phenylalanine. The phenylalanine levels of the remaining two were 6.1 mg/dL ($366{\mu}mol/L$) and 5 mg/dL ($300{\mu}mol/L$), respectively. Conclusion: One of six patients (16%) reached the highest concentration three hours after taking 100 mg/kg of phenylalanine and four patients (66%) reached $400{\mu}mol/L$ or higher phenylalanine levels. There were patients whose phenylalanine levels did not rise above $400{\mu}mol/L$ using a commonly known test method; moreover, this method had the disadvantage of reaching the highest concentration after more than three hours. Therefore, it is considered that taking 200 mg/kg or more of phenylalanine and performing $BH_4$ loading four to six hours after taking phenylalanine are helpful in proper diagnosis.

• Clinical and Experimental Pediatrics
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• v.45 no.3
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• pp.302-310
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• 2002

Purpose : X-linked agammaglobulinemia(XLA) is an immunodeficiency caused by abnormalities in Bruton's tyrosine kinase(Btk), and is characterized by a deficiency of peripheral blood B cells. We studied cytoplasmic expression of Btk protein and analyzed the Btk gene in peripheral blood mononuclear cells(PBMC) from three XLA families in Korea. Methods : Heparinized venous blood samples were collected from four XLA patients and additional family members in three unrelated XLA families. Mononuclear cells were separated from their blood and the intracellular Btk protein was characterized by a flow cytometry. The mutation analysis was performed using direct sequencing. Results : Cytoplasmic expression of Btk protein in monocytes was not detected in the patients with XLA. We observed a novel deletion and two point mutations within introns(intron 1 and intron 18) resulting in alternative splicings. In XLA family 2, a 980 bp deletion(from intron 9+191 T to intron 10-215 C) including exon 10 was found in patient P2. He was the only sporadic case in this study, because his mother and brother showed a normal Btk expression by flow cytometry. Conclusion : These identified genetic alterations support the molecular heterogeneity of Btk gene in XLA disease. Additionally, by means of flow cytometric analysis, we diagnosed three hypogammaglobulinemia patients as XLA. Advancements in diagnostic methods has facilitated a prompt and definite diagnosis of this disease.

• Journal of Nutrition and Health
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• v.43 no.3
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• pp.224-232
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• 2010

The prevalence of heart failure (HF) is increasing globally and growing evidence has shown that dietary factors play an important role in preventing and improving prognosis of HF. However, little data on nutrient intake in Korean HF patients which are available to develop dietary guidelines for HF. The aims of this study were to estimate nutrient intake in 78 HF patients and evaluate whether the estimated nutrient intake is appropriate compared to dietary reference intake for Koreans. Data are presented as the ratio of actual intake and estimated average requirement (EAR) for each nutrient. The result showed that the average nutrient intakes including total energy and protein met EAR in total patients. However, the deficiencies in mineral and vitamin intakes were found. Moreover, the proportion of subjects with lower intake than EAR was substantial. The results showed that the proportion of male HF patients with inferior intakes to EAR in calcium, potassium (compared to adequate intake: AI), folate and vitamin $B_{12}$ were 38%, 79%, 38%, and 65%, respectively. Also, the proportion of female HF patients with inferior intakes to EAR in calcium, potassium (compared to AI), folate and vitamin $B_{12}$ were 35%, 88%, 38% and 40%, respectively. In particular, the elderly with HF ($\geq$ 70 yrs, n = 28) showed more serious deficiencies in calcium, potassium (compared to AI), folate and vitamin $B_{12}$. In summary, the intakes of potassium, calcium, folate, and vitamin B12 were not sufficient to meet EAR in HF patients. Furthermore, the proportions of subjects with lower intake than EAR in these nutrients were substantial, raising the possibility that these micronutrients may be involved in the pathogenesis of HF. Practical dietary guideline for HF patients is needed to improve prognosis of HF.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.1
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• pp.1-12
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• 2018

Purpose: Disorders of organic acid metabolism have various clinical manifestations and it may be life-threatening. The prognoses of affected children are dependent on early diagnosis and treatment. We report this study to find out detection rate of referred samples, clinical manifestations and age distribution after introduction of neonatal screening test using tandem mass spectrometry in Hallym University Chuncheon Sacred Heart Hospital during 8 years and 9 months. Methods: The 2,794 patients referred from Jan. 2007 to Sep. 2015 were divided into four groups according to age. We conducted organic acid analysis of urine samples of patients and analyzed clinical manifestations and distributions of age at the diagnosis. For patients with ambiguous results, reanalysis of urine organic acid after diet restriction, protein loading and restriction, has been done. Results: A total of 626 patients with 20 disorders were diagnosed. Mitochondrial disorders (482 patients) were the most common diagnosis, followed by ketolytic defects (67), 3-hydroxyisobutyric aciduria (32), EPEMA syndrome (8), 3-methylcrotonyl glycinuria (7), glutaric aciduria type II (6) and type I (4), methylmalonic aciduria (3), isovaleric aciduria (3) and medium chain acyl-CoA dehydrogenase deficiency (3). Conclusion: As neonatal screening test using tandem mass spectrometry is increasingly common and medical environment is changed, detection rate of disorders of organic acid metabolism in this study has decreased compared to previous report. Because the deterioration can be prevented by early diagnosis and treatment, many pediatricians have to pay special attention to possibility of the disorders and make an effort for early diagnosis in clinical setting.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.2
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• pp.111-119
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• 2013

Purpose: Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by deficiency of the enzyme ${\alpha}$-L-iduronidase, which leads to a broad spectrum of multisystemic manifestations. Short stature and decreased growth velocity are prominent features of MPS I. The aim of the present study was to evaluate the effect of enzyme replacement therapy (ERT) on growth of Korean MPS I patients from a single center. Methods: Height data were obtained by retrospective chart review of 10 Korean patients with MPS I who had received ERT for a minimum of 3 years. Height was expressed as standard deviation scores (SDS) based on normative data. Annual growth rates were calculated before and during ERT. A piecewise regression model was used to analyze height z-scores before and after treatment. Individual analysis was performed for impact of phenotype [(severe (Hurler) versus attenuated (Hurler-Scheie, Scheie)] on growth. Results: Annual growth was 3.3 cm (z-score= -0.21) in the year before ERT and 6.2 cm (z-score= 0.17), 5.8 cm (z-score= 0.07), and 3.8 cm (z-score= -0.4) in the first, second, and third years of ERT, respectively. Regression analysis showed improvement in the slope after ERT (difference= 0.04; P=0.022). Estimated slope differences between severe and attenuated phenotypes were statistically significant before (P=0.001) and after treatment (P<0.0001), although no significant difference was noted when stratified by phenotype. Conclusion: ERT with aldurazyme appears to have a positive impact on linear growth in patients with MPS I.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.19 no.1
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• pp.12-19
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• 2019

Purpose: Isolated methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder of propionate metabolism. There are two subtypes of MMUT gene defects. $Mut^0$ represents complete loss of methylmalonyl-CoA mutase (MCM) activity while mut- is associated with residual MCM activity, which can be stimulated by hydroxocobalamin (OHCbl) supplementation. The objective of this study is to investigate cobalamin responsiveness and mutations present in Korean MMA population. Methods: We evaluated 10 MMA patients using somatic cell complementation analysis on their fibroblasts to measure MCM activity and vitamin B12 responsiveness for the optimal treatment. MMUT gene was sequenced to identify the MMA mutations. Results: For all patients, the incorporation of $[^{14}C]-propionate$ was low, and there was no response to OHCbl. The incorporation of $[^{14}C]-methyltetrahydrofolate$ and $[^{57}Co]-CNCbl$ fell within the normal range. There was adequate synthesis of methylcobalamin while the synthesis of adenosylcobalamin was low. The complementation analysis showed all patients were $mut^0$. The sequence analysis identified 12 different MMUT mutations, including 2 novel mutations, p.Gln267Ter and p.Ile697Phe, were identified. All the patients in this study had neonatal onset of symptoms, belonged to $mut^0$ complementation class, and as a result, showed no cobalamin responsiveness. Conclusion: No Korean MMA patient showed cobalamin responsiveness.

• Clinical and Experimental Pediatrics
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• v.50 no.12
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• pp.1188-1193
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• 2007

Purpose : The prevalence of rickets in the world is on the rise not only in developing but also in developed countries. In Korea, breastfeeding has increased. There have been few studies on the possible association of rickets with breastfeeding. The purpose of this study was to identify the development and the clinical presentation of subclinical rickets in breastfed infants. Methods : We investigated patients who were breastfed and had hypovitaminosis D in the blood from May 2006 to April 2007, and who were diagnosed with vitamin D deficient rickets from May 2003 to April 2006. We evaluated the results of blood tests, x-rays and other relevant information in the medical record. A questionnaire that included questions on the diet of patients, the mothers activity during pregnancy and place of residence was administered. Results : Twelve patients (66%: male, 34%: female) were enrolled in this study. There were eight in the asymptomatic and four in the symptomatic group. The median age for each group was 8 months (range 4-11 month) and 5.5 months (5-8 month). All patients in the symptomatic group were breastfed until diagnosed. In the asymptomatic group, they were breastfed for four to six months, and then weaned with only thin rice soup and vegetables. Nine patients had a vitamin D concentration below 20 ng/mL and three patients had levels between 20 and 29 ng/mL. Alkaline phosphatase (ALP) and parathyroid hormone (PTH) were elevated in both groups. There were statistically significant $25-OHD_3$ levels in the blood in both groups (P=0.008). Ten of the patients (83%) also had iron deficient anemia. Conclusion : Vitamin D deficiency and subclinical rickets has been identified in Korea. However, the prevalence of this disease has not been determined. The main limitation of this study was the small number of patients and the absence of a control group.