• 대한유전성대사질환학회지
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• 제18권2호
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• pp.50-54
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• 2018

Jehovah's Witnesses do not accept blood transfusions, because of their particular interpretation of the Old and New Testaments. When people with such religious convictions are in need of medical care, their faith and belief may become an obstacle for proper treatment, and pose legal, ethical, and medical challenges for the health care providers. We report two inherited metabolic disorder cases in South Korea where the infants died whilst under medical care because of parental refusal of blood transfusions for religious reasons. Case 1 had methylmalonic acidemia, Down syndrome and associated congenital cardiac anomalies requiring surgery. Case 2 had anemia and methylmalonic acidemia requiring dialysis to treat hyperammonemia and metabolic acidosis. For effective medical management, they needed life-saving blood transfusions. As a part of alternative treatment, Erythropoietin was administered in both cases. As a result, two babies died from their extremely low hemoglobin and hematocrit. The hemoglobin concentrations below 2.7 g/dL without cardiac problem and 5.4 g/dL with cardiac anomaly complicated by pulmonary hypertension are considered life-threatening hemoglobin threshold. The medical professional must respect and accommodate religious beliefs of the patients who can make informed decisions. However, when parents or legal guardians oppose medical treatment of their babies and incompetent care receivers on cultural and religious grounds, the duty to assist and save persons exposed to serious danger, particularly life-threatening events must come first.

• 대한유전성대사질환학회지
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• 제23권2호
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• pp.31-38
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• 2023

Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder caused by a deficiency in branched chain α-keto acid dehydrogenase (BCKAD). Between 1997, when Korea's MSUD case was first reported, and 2023, 14 cases were reported in the literature. 29% of the cases experienced developmental delay, and 29% expired. The prevalence of MSUD in Korea was estimated to be 1 in 230,000. Of 21 MSUD patients currently being treated at the Korea Genetics Research Center, 19 were detected through newborn screening program, and 2 were diagnosed by the symptoms. 14 MSUD patients had confirmed genetic mutations; 6 (43%) were BCKDHA and 8 (57%) were BCKDHB. In one case, a large deletion was observed. 4 patients had leucine levels above 2,000 (umo/L), and post-dialysis diet therapy was initiated in the newborn period. No patient required further dialysis as diet therapy and regular monitoring proved highly effective. Most MSUD patients were growing normally; weight and height growth were above the 50th percentile in 76% of the cases while BMI values were higher than normal in 71% of cases. Developmental delays were observed only in 2 cases (10%) and anticonvulsant use in 3 cases (14%). With newborn screening available to all Korean infants, early diagnosis and intervention should allow most patients to remain asymptomatic. However, ongoing surveillance, dietary management and continued patient compliance as well as rapid correction of acute metabolic decompensations remain critical to a favorable long-term prognosis.

• 대한예방한의학회지
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• 제11권2호
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• pp.41-70
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• 2007

The purpose of this study was to identify a tendency in patients who seek oriental medical service and factors influencing patient satisfaction. The study was conducted with 1,520 residents of a community during the period from February 5, 2005 through June 30, 2005 using a questionnaire. This study results are summarized as follows : 1. Of subjects who sought oriental medical service, 66.2% had musculoskeletal disorder and connective tissue disease, 18.9% had digestive tract disease, 16.4% had respiratory disease, 8.2% had endocrinemetabolic disease, 7.5% had circulatory disease and the remaining subjects had other diseases(p<0.001). 2. Of subjects who sought oriental medical service for the treatment of musculoskeletal disorder, 84.9% preferred acupuncture. Of those who had digestive tract diseases, 47.0% preferred packaged herbal medicine. Of those who had respiratory disease, 63.0% preferred packaged herbal medicine. 3. Acupuncture was the most often sought by subjects with musculoskeletal disorder. Packaged herbal medicine was sought by subjects with respiratory disease, digestive tract disease, endocrine-metabolic disease or circulatory disease. Tablet-type herbal medicine was sought by subjects with musculoskeletal disorder or digestive tract disease. Combined therapy was sought by subjects with musculoskeletal disorder, digestive tract disease, hematopoietic disease or immune disorder. 4. The level of satisfaction with oriental medical service was higher in subjects with circulatory disease, subjects with digestive tract disease, subjects with neurological disorder and subjects with musculoskeletal disorder in descending order. Of total subjects, 39.4% experienced side effects of oriental medical care, 38.1% experienced side effects of herbal medicine. About 51.9% considered the price of herbal medicine costly while 23.2% considered it reasonable. 5. Subjects' knowledge of herbal medicine was measured as $29.2{\pm}3.83$ out of 42 scores or 69 out of 100 points, indicating a low knowledge level. Subjects' knowledge was influenced by occupation, religion, side effects, sex, age, residence area, the type of insurance. These variables explained 15.2% of the variance. 7. Of total subjects, 56.8% were satisfied with oriental medical service. Patient satisfaction varied with occupation, religion, the type of insurance, health state and treatment outcomes. These variables explained 37.3% of the variance. Conclusion : The majority of subjects were satisfied with oriental medical service. However, oriental medical care are not widely used to treat all kinds of diseases while its use skews to a small categories of diseases. It is therefore necessary for the government and oriental medical service providers to develop new therapy approaches for the treatment of a broader range of diseases.

• 대한유전성대사질환학회지
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• 제16권2호
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• pp.57-61
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• 2016

IVA는 상염색체 열성의 유전방식을 보이는 leucine 대사 장애 질환이자 대표적인 유기산 혈증이다. IVD 유전자의 돌연변이에 의한 isovaleryl-CoA dehydrogenase 효소의 결핍이 질환 발생의 원인이다. Isovaleryl-CoA dehydrogenase 효소가 결핍되면 isovaleryl-CoA의 대사물질이 비정상적으로 체내에 축적되어 대사성 산증 및 고암모니아혈증 등의 급성 대사성 위기와 발달지연, 성장지연, 및 경련성질환 등의 만성 합병증을 초래할 수 있기 때문에, 급성 대사성 위기 및 만성합병증의 발생을 예방하기 위해 조기 진단에 따른 적절한 치료의 도입이 중요하다. 현재 IVA은 국내에서 시행되는 탠덤 매스 스크리닝법을 이용한 신생아 대사질환 선별검사 항목에 포함되어 있으며, C5의 상승으로 의심할 수 있다. 그러나 SBCAD 결핍증 혹은 pivalic acid 유래물이 포함된 항생제를 투여한 경우에도 C5의 상승이 동반될 수 있기 때문에, 감별진단 및 확진을 위한 추가적인 생화학적, 유전학적 검사가 필수적이다.

• Journal of Genetic Medicine
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• 제5권1호
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• pp.21-25
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• 2008

목 적 : 최근 여러 국가에서 빠르게 탠덤매스 신생아 선천성 대사이상질환 선별 프로그램을 채택하고 있으며 많은 질환들이 검출되고 있다. 본 기관에서는 2001년 4월부터 탠덤 매스 선천성 대사이상 질환 신생아 선별 검사를 시작하였다. 연구자들은 한국에서의 탠덤매스 선천성 대사이상질환 검출율 및 탠덤매스 유용성에 대해 평가하고자 하였다. 방 법 : 2001년 4월부터 2007년 12월까지 본원에서는 탠덤매스를 이용하여 신생아 및 고위험군에 대해 선별검사를 시행하였다. 검체로부터 아실카르틴과 아미노산을 추출하여 부탄올로 유도체화시킨 후 탠덤매스에 장착하여 분석하였다. 탠덤매스 선별검사 재검, 소변 유기산 및 혈장 아미노산 검사 등을 포함한 확진 검사는 개별적으로 시행되었다. 결 과 : 총 의뢰건수는 284,933건으로 신생아 251,799건 및 고위험군 33,134건이었다. 소환율은 0.4%(1158건)이었으며, 이들 중 true positive는 117건(0.04%)이었다. 아미노산 대사 이상 질환은 총 78건(25/53), 유기산 대사이상 질환은 총 27건(16/11건) 및 지방산 산화대사이상 질환은 총 12건(5/7건)으로 전체 질환에 대한 검출율은 신생아 1:5,000이었으며 전체군 1:2,000이었다. 결 론 : 탠덤매스 신생아 선별검사는 조기 진단 및 치료가 필요한 많은 선천성 대사이상질환의 검출을 용이하게 해주었다. 그러므로, 반드시 모든 신생아들에 대한 국가지원 탠덤매스 선별검사 확대 적용 및 추적관리 시스템이 구축이 필요할 것으로 판단된다.

• 한국임상수의학회지
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• 제28권4호
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• pp.352-356
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• 2011

Abstract: This study was aimed to diagnose acid-base disorders of dogs with canine parvoviral enteritis (CPE) and data to establish a rational fluid therapy regimen for patients with CPE. A total of 43 dogs which had clinical signs of CPE and had detected canine parvovirus by polymerase chain reaction, were bled anaerobically from jugular vein at the time of admission. Blood chemical test, determination of electrolytes and blood gas analysis were conducted, and calculated values were obtained from each measured items. The values of blood chemical and electrolytes of dogs with CPE were various depending on the degree of clinical signs, and these tests were not specific to diagnose for CPE. Hypochloremia (20.9%), hyperchloremia (11.6%), hypokalemia (7.0%), hyperkalemia (11.6%), hyponatremia (9.3%) and hypernatremia (18.6%) were diagnosed as abnormalities of electrolytes from 43 dogs with CPE. The 29 out of 43 dogs (67.4%) were metabolic acidosis and 3 dogs (7.0%) were metabolic alkalosis. The acid-base status of 11 dogs out of 43 dogs (25.6%) was normal.

• Toxicological Research
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• 제18권4호
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• pp.349-354
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• 2002

Inflammatory bowel disease (IBD) is a multifactorial disorder with unknown etiology and pathogenesis. Eupatilin, a kind of flavonoids, has been known to be effective for chronic diarrhea in Korea. In this study, we have investigated the genotoxicity of DA-6034, a new synthetic derivative of Eupatilin, wing in vitro and in viuo system such as Ames reverse mutation test, chromosomal aberration test and micronucleus test. in Ames reverse mutation test, DA-6034 treatment at the dose range up to 5,000 $\mu\textrm{g}$/ plate did not induced mutagenicity in Salmonella typhimurium TA98, TA100, TA102, TA1535, TA1537 with and without metabolic activation. Any significant aberration wasn't observed in chinese hamster lung(CHL) fibroblast cells treated with DA-6034 at the concentration of 5, 2.5, 1.25 mg/ml both in the absence and presence of metabolic activation system. In mouse micronucleus test, no significant increase in the occurrence of micronucleated polychromatic erythrocytes was observed in ICR male mice orally administered with DA-6034 of the doses of 2.0, 1.0, 0.5 g/kg. These results indicate that DA-6034 has no mutagenic potential under the condition in this study.

• 셀메드
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• 제10권1호
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• pp.5.1-5.6
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• 2020

In the present highly changing era, every dimension from Technology to Education, Environment to Sanitation and from Agriculture to our Food basket is getting changed. Our experiences say that the most affected ethnic group from this rapidly changing pattern of our food intake, lifestyle are our adolescent. This is also a fact that our adolescent passes their 2/3 of time of a day in their schools. In this regard our school system needs to formulate their comprehensive approach to Health for our adolescents. On other hand Ayurveda, the ancient Indian system of Medicine had expressed views on a concept of Holistic Health thousand years ago. This research article is an attempt of borrowing this valuable concept from Ayurveda and suggesting to introduce them into our comprehensive school health programme such as concept of wellness, quality of life, Holistic Health and measures related to diet and lifestyle for preservation, promotion of health and prevention of disorders etc. This manuscript also evaluates the existing approaches of school health programmes towards current scenario. Now a day's our food habits, dietary intake and the life style are not at the level of satisfactory condition this lead to early onset of metabolic chronic disorder especially in our adolescents because on the basis of age-immunity relationship they are easily targeted. The chronic metabolic disorders results into overweight, obesity, anxiety, mental trauma, distress, over- fatigued, incapable for physical work, getting tired soon. This article provides a space to rethink and reformulate our school health programmes in light of our ancient tradition of medicine.

• 대한유전성대사질환학회지
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• 제6권1호
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• pp.58-62
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• 2006

Gaucher disease is an inherited disorder due to a deficiency in the activity of glucocerebrosidase (EC. 3.2.1.45) by genetic mutation which resulted from missense, nonsense, frameshift, deletion in long arm 21 of chromosome 1 (1q21). Gaucher disease is classified into the main three types as type 1 (nonneuronopathic), type 2 (acute neuronopathic) and type 3 (subacute neuronopathic) according to the progressive phase of manifestations and nervous system involvement. Gaucher disease patients had been treated by using the method as splenectomy and bone marrow transplantation. But enzyme replacement therapy as a more effective treatment has been available since the early 1990's. In order to treat Gaucher disease efficiently by using ERT, it is necessary to chase the progress of the therapy. In this study, therefore, we tried to chase the progress of the ERT by using the measurement of chitotriosidase activity in Gaucher disease patients.

• 대한유전성대사질환학회지
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• 제6권1호
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• pp.32-39
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• 2006

저자들은 출생 후 정상적인 발달을 보이다가 생후 6개월부터 의식과 운동 발달의 퇴행을 보이던 13개월 환아에서 효소 검사를 시행하여 ${\beta}$-galactosidase의 결핍을 확인하고 $GM_1$-gangliosidosis type 1으로 진단하였지만, 후에 추가적으로 시행한 효소 검사에서 ${\alpha}$-neuraminidase의 결핍도 발견되어 galactosialidosis로 진단한 증례를 경험하였기에 문헌 고찰과 함께 보고하고자 한다.