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Chronic Hereditary Tyrosinemia Type I with Novel Mutation in FAH Gene (FAH gene novel mutation을 가진 만성형 Hereditary tyrosinemia 1형)

  • Yang, Sungmin;Choi, Hyo Won;Kang, Yun Koo;Lee, Jin-Sung;Namgoong, Mee Kyung
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.20 no.2
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    • pp.55-62
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    • 2020
  • A 22-month-old girl who had taken iron supplements due to iron deficiency anemia, presented bloody mucoid stool for one month. She had a bruise at the right periorbital area due to minor trauma and hepatosplenomegaly. Laboratory studies showed anemia, thrombocytopenia, elevated alkaline phosphatase (ALP), hypophosphatemia, decreased haptoglobin, hypocomplementemia, negative direct/indirect Coomb's test, normal vitamin D3 level and high PTHi. Wrist x-ray showed no signs of rickets. The abdominal ultrasound showed only accessory spleen. Tandem mass spectrometry was normal. During follow up, bloody stool regressed after seven days of withdrawal of iron supplement and cow milk, and the total CO2 level had been within 15-20 mEq/L with normal anion gap. NGS (next generation sequencing) panel test for evaluation of renal tubular acidosis showed negative results. After low dose steroid and vitamin D supplements under the impression of hypocomplementemic vasculitis, thrombocytopenia, C3/C4, decreased haptoglobin, and elevated ALP level became normal. At 57 months of age, laboratory findings showed elevated liver enzyme, ALP and gamma-glutamyl transferase again. And liver cirrhosis with splenomegaly and diffuse renal disease were reported with abdomen CT scan. Liver biopsy reported macro- and micronodular cirrhosis. Urine organic acid profile showed elevated succinylacetone level. Whole exome sequencing revealed novel compound heterozygous mutations (NM_00137.2:c.107T>C, NM_00137, 2:c.614T>C) in FAH gene and confirmed by Sanger sequencing. Consequently, the patient was diagnosed as chronic hereditary tyrosinemia type I. She started low phenylalanine/tyrosine diet and nitisinone treatment. Our case had presented symptoms very slowly, which is the first case of chronic tyrosinemia type I in South Korea.

A Research in the Characteristic of Arthritis Patienth (관절염환자(關節炎患者)의 특성(特性)에 대한 조사(調査) 연구(硏究))

  • Kang Jeam-Dug;Nam Chul-Hyun;Kim Gi-Yeol
    • Journal of Society of Preventive Korean Medicine
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    • v.1 no.1
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    • pp.149-165
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    • 1997
  • In order that, investigating the feature of patients suffering arthritis, analysing its contents, and grasping a Primary factor affecting it, I might offerbasic datas which could help to plan and perform healthy affairs to thake precautions beforehand, I have investigated, analysed, and studied a total of 320 patients suffering arthritis, who have received physiotherapy in hospital located in Teaegu area for five months, from November 1 1995 to March 30 1996, of which summary and conclusion is this. 1. The general feature of patients in investigative objects In the distribution of the distinction of sex, men accounted for 26.9% and women, for 73.1%, and, in the fistribution of age, 60-year-old or more, most for 27.2% and from 20 to 29 years old, least for 14.0%. In the distinction of a vocation, housewives most accounted for 34.7% and students(jobless men), least for 19.3%. In the distinction of a matrimonial state, married persons most accounted for 76.7% and people living alone(divorce, separation by death, separation), least for 11.4%. In the distinction of an economic state, the middle classes most accounted for 73.5% and the upper classes, least for 2.9%. In the distinction of their academic careers, graduates of a primary school most accounted for 26.9% and graduates of university, for 14.1%, of which patients, having the ability to decode the national language, reached to 11.3%. In the distinction of the house form, people living in independent houses most accounted for 76.4% and residents in apartment(having an elevator), least for 9.4%. 2. In the distribution of the recurring state in the distinction of the feature, the recurring group was more than the group of patients falling that ill at first as 62.2% and in the distinction of the feature of the recurring group, the recurring group turned high in case of men being from 50s to 60s years old or more, people living alone (divorce, separation by death, separation), students (joblessmen), people working in farming, stockbeeding, forestry, fisheries, a simple labour, graduates of a primary school I having the ability to decode the national language, the upper classes, people part two years since they begined to suffer arthritis, people who had members having ever experienced arthritis among families. 3. In the distribution of arthritis on the distinction of bodily pars, a knee articulation most accounted for 50.2% and the articulation of fingers, for 8.8%, wile the simultaneous, several parts (multiple) accounted for 35.1%. In the distinction of the feature, arthritis of a knee turned high in case of men being from 20s to 30s years old, unmarried persons, people having academic careers of university, the middle classes, residents in apartment (having stairs). In the dictnction of a feature the case of several parts (multiple) turned high in case of women being from 50s to 60s years old or more, people living alone (divorce, separation by death, separation), people having the ability to decode th. national language, the graduates of a primary school, the upper classes, residents in apartment (having elevator). 4. In the distribution of arthritis on e distinction of a contracting term, two years or more most accounted for 51.6% and the case of contacting from one year to two years, for 15.3%. Analysing the distinction of the feature, the case of two years or more turned high in case of women being from 50s to 60s years old or more, people living alone (divorce separation by death, separation), the upper classes, people having the ability to decode the national language, residents in apartment (having elevator). 5. In the distribution of an treatment institution before patients came to help, their not curing most accounted for 39.1%, general, orthopedic, neurological surgery (physical therapy), for. 20.0%, and th. therapy of Chinese medicine (acupuncture, moxacautery, Chinese medicine), for 17.5%, and a pharmacy (medical therapy), for 13.4%. The case of patients not curing, in the distinction of a feature, turned high in case of men 20s years old, unmarried, the lower classes, people having academic careers of university, residents in apartment (having elevator). 6. In e distribution of the extent of satisfaction with treatment, common most accounted for 54.4% and some satisfaction, for 32.8%. The case of common, in the distinction of a feature, turned high, in case of men living alone from 50s to 60s years old (divorce, separation by death, separation), married persons, the upper classes, people having academic careers of university, residents in independent house, residents in apartment (having elevator), 7. In the distribution of the degree of knowledge of the cause of arthritis, patients knowing that the cause is to use very much a articulation in normal times most accounts for 60.1%, and patients knowing the state of short nutrition as a cause, for 2.5%. The case of patients knowing that the cause is to use very much in normal times, in the distinction of a feature, turned high in·case of ment being 20s and 60s years old or more, unmarried persons, e lower classes, people having the ability to decode. the national language, people having academic careers of university, residents in apartment (having stairs), 8. In the distribution of the state of physical exercise before arthritis contracted, patients exercising very much on the whole most accpimend for 40.3%, and patients not exercising, for 34.7%. The case of patients exercising very much on the whole, in the distinction of the feature, turned high in case of men being from 50s to 60s years old or more, people living alone(divorce, separation by death, separation), the lower classes, people having the ability to decode the national language, graduates of a primary school, residents in apartment (having elevator). 9. In the taste of patients suffering from arthritis, while the group of patients falling that ill at first and the recurring group didn't smoke cigarets, during alcohol and coffee on the whole, and the group of patients falling once again that ill drank a cup of distilled linquor and three cup of coffee or more on the whole per one day, and the group of patients falling that ill at first liked sort of vegetables and the recurring group liked very much sons of vegetables and fresh and meat in their loving food normal times. 10. Analysing the distribution on the dining table used by patients and the structure of a powder room, at first, in the structure of a powder room, the group of patients filling that ill have a toilet stool using as their sits, and a Bush toilet on the whole, and the recurring group, a toilet stool using as their sits and conventional type, and in the structure of a dinning table, the group of patients falling that ill at first and the recurring group turned high, each as 66.9% and 6.3%, who have a dining table carring here and there. 11. In the distribution of patients of arthritis in relation to stress, the case that they feeled severly symptoms of arthritis when thay got stress, turned high, each, as 78.6% in the recurring poop, and the case not knowing, as 61.5% in the first group. In the extent of stress normal times, the case that they got much stress on the whole turned high, each, as 72.4% in e recurring group, and the care that got less stress on the whole, as 60.0%. 12. In the distribution on the distinction of symptoms and impedimental extent, the recurring group turned high in each variable. Analysing the feature of the recurring group, in the distinction of symptoms, the case that they fooled much that the node of an articulation is stiff, turned high, as 71.6, and in the distinction of treatment before. patients came to helpk, the theraphy of Chinese medicine (physical theraphy), as 84.4%, the theraphy of Chinese medicine (acupuncture, moxacautery, Chinese medicine), as 73.2%, and in the distinction of the satisfing extent on treatment, the case of comman, as 72.3%, and in the cause of arthritis, the case not recruiting their health after a birth, as 68.5%, and the case not recovering wholely an articulation having got hurt, as 62.8%, and in the state of physical exercise before they begined suffering from arthritis, the case exercising very much on the whole, (as 74.2%), and in the extent of subjective impediment, the case of not being able to act almost, as 66.7%, the case of acting but feeling some hard, as 66.3%. 13. The correlation in variables in relation to arthritis Analysing realted variables, the recurring frequency showed correlation with such as the extent that patients got stress normal times, and the exercising state before suffering arthritis, and showed contra-correlation with academic careers, the wights, coffee. The cigaret, e loving food of taste, showed corralation with the weight, stature, alcohole as the loving food of taste. On the basis of this result medical members of heal, who are related to the regular education, public education or development of this program, should be concerned to prevent orthris.

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Molecular identification and clinical features of enteroviral infection in children of central Korea: An overview of enteroviral epidemiology between spring 2005 and autumn 2006 (2005년 봄부터 2006년 가을까지 국내 중부지역의 enterovirus 감염의 분자유전학 조사와 임상양상)

  • Roh, Eui Jung;Jin, Yong Man;Chung, Eun Hee;Chang, Young Pyo;Park, Woo Sung;Park, Kwisaung;Jee, Young Mee
    • Clinical and Experimental Pediatrics
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    • v.52 no.11
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    • pp.1234-1240
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    • 2009
  • Purpose:Enteroviruses (EVs) are commonly known to cause infection, especially in infants and children. This report presents an overview of enterovirus epidemiology in central Korea. Methods:From the spring of 2005 to the autumn of 2006, we collected the cerebrospinal fluid (CSF) and stool samples from the pediatric patients with a febrile illness or suspected meningitis who were admitted to hospitals in central Korea. In order to test for EVs, cell lines were derived from pretreated susceptible specimen, and the cytopathic effects were observed. Seminested real time-polymerase chain reaction (RT-PCR) and direct sequencing were performed for genotypic and phylogenetic analyses. Results:Of the 305 patients examined, 51 (16.7%) tested positive for EV. Of these 51 patients, 44 showed the following serotypes: Echovirus (ECV) 18 (18 cases, 35.2%), Coxsackievirus B (CVB) 5 (13 cases, 25.4%), ECV25 (5 cases, 9.8%), ECV9 (4 cases, 7.8%), ECV5 (3 cases, 5.8%), and EV74 (1 case, 1.9%). In 2005, between June and August, ECV18 and CVB5 were mostly responsible for the enteroviral infections among the patients in central Korea. In 2006, between July and August, ECV25 was mostly the cause of enteroviral infection. Conclusions:There is a need for continuous surveillance of enteroviral infection and its clinical manifestations, particularly for EV74, which was first identified in Korea.

The Music Therapy Effects to Older Person's Emotions after Reminiscence Therapy Through Songs (노래를 중심으로 한 음악치료 회상 요법이 노인의 정서에 미치는 영향)

  • Choi, Ae-Na;Kwon, Hwan-Soon
    • Journal of Families and Better Life
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    • v.27 no.4
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    • pp.31-39
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    • 2009
  • The purpose of this study is to how the music therapy effects to older person's self-esteem feeling and a emotional mood improvement after reminiscence therapy through songs. The object of this research were 10 old men and women, age of 67 to 90 with dementia, and mental and physical dysfunction, but can be self-walking and the stool was made up in social welfare center in the Yuseong-gu, Daejeon-city, The experiment of the research was done from June 18th until July 18th, week 2 each 50 minutes the total 12 times. This study was an experiment, the treatment of a same group before and after treatment. Before the first session I check the self-esteem and emotional mood. And after the final 12th session, post-therapy examination was conducted the same tests. The tools of Self-esteem test is the self-esteem scale developed by Rosenberg(1965) and Jun Byung-se(1974), which was translated. Emotional state check tools developed by MoNair(1992), which was translated by Yun Jae-ryang, and it can also apply to the Korean older person has been modified by Shin yon-hee. The results of changing mood state to 3 factors are as follows: The score of anxiety-depression factor changes from 50.42($\pm$14.15) to 35.10($\pm$10.60), and this is statistically significant.(p<.05). The score of anger factor changes from 11.20($\pm$4.39) to 6.90($\pm$2.51), and this is statistically significant.(p<.01). The score of vitality factor Changes from 30.00($\pm$4.27) to 23.90($\pm$5.09), and this is Statistically significant.(p<.05). For this research, I selected older person's favorite songs which have a positive lyrics and bright melody. And This has significance in terms give positive effects to older person's emotion which influence on their self-esteem and better mood positively. In the clinical treatment for the elderly to improve the positive sentiment and give practical assistance on the basis of this research is done to the future, And I look forward to the future development of a variety of music therapy.

Two cases of Hemolytic Uremic Syndrome Associated with Esecherichia coli O114 (Escherichia coli O114에 의한 용혈성 요독 증후군 2례)

  • Ryu Su-Jeung;Hahn Hyewon;Yoo Soo Jin;Lee Byung-Sun;Lee Jae Kyoo;Kim Mi-Na;Kim Eui Chong;Park Young Seo
    • Childhood Kidney Diseases
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    • v.6 no.1
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    • pp.102-108
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    • 2002
  • We report two cases of hemolytic uremic syndrome (HUS) associated with Escherichia coli O114. Two cases were similar and showed the same clinical courses. After prodrome of diarrhea and vomiting lasting 1-2 days, azotemia persisted for about 10 days, and during that period, the patients were on peritoneal dialysis. They recovered without any sequelae after about 15 days. Direct multiplex PCR of stool culture revealed eae and stx2 gene and the result of ELISA done on the colony positive of one gene confirmed Escherichia coli O114. This is the first report of HUS associated with Escherichia coli O114. We recommend, Shiga toxin producing bacterial Infection must be considered and efforts should be made to scrutinize the organism in all diarrhea-prodrome HUS patients.(J Korean Soc Pediatr Nephrol 2002 ;6 : 102-8)

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An Epidemiological Investigation on an Outbreak of Shigellosis during Travelling Cambodia and Vietnam among Korean Rural People, 2005 (2005년 농촌 주민들에서 캄보디아와 베트남 여행 중 발생한 세균성이질)

  • Lim, Hyun-Sul;Lee, Hwan-Seok
    • Journal of agricultural medicine and community health
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    • v.34 no.3
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    • pp.368-374
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    • 2009
  • Objectives: A group consisted of 32 Korean rural people had been travelled to Cambodia and Vietnam. During their travel for 7 days, first diarrheal case had occurred on 3rd day of travel and overall 8 people had diarrhea during travel. So we investigated the case for determination of the cause and route of infection. Methods: We interviewed all 32 people by visiting or telephone and took 23 stool samples from them, which are examined by Gyeungsangbuk-do Government Public Institute of Health & Environment in Korea. We interviewed travel agency for travel route and schedule. Results: The attack rate was 25.0% (8 cases) among 32 people. Of them, 3 cases were microbiologically confirmed to have the infection of Shigella flexneri (Serotype 3a). The result of this epidemiological investigation showed that the infection of shigellosis was happened in foreign countries. We assumed the water from Angkor-Watt was contaminated by S. flexneri. We could not able to test environmental specimens because of the infection is thought to be occurred in foreign countries. Conclusions: Most common infectious diseases from foreign countries are transmitted by water or food. Travellers to foreign countries must take caution for communicable diseases and must do report and get appropriate treatment when symptoms developed after travel.

The Study on the Ferrokinetics and Acquired Immunity in Repeated Hookworm Infections (구충성빈혈(鉤蟲性貧血)에 관(關)한 연구(硏究))

  • Lee, Mun-Ho;Lee, Pyl-Ung
    • The Korean Journal of Nuclear Medicine
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    • v.1 no.2
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    • pp.61-74
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    • 1967
  • In order to confirm whether acquired immunity or resistance can be developed by the repeated hookworm infections, the 150 mature actively moving filariform ancylostoma duodenale larvae obtained from the severe hookworm anemia patients were orally given to 8 healthy volunteers in three divided doses, 50 in each, at 5 day interval. Also the hematological changes as well as several ferrokinetics using $^{59}Fe$ were done and were compared with 10 controls. The clinical symptoms and signs were checked every day for the first 3 weeks and then twice weekly until the end of the experiment. The appearance of the ova in the stool was examined by the formalin ether method and the ova was counted by the Stoll's method. The following laboratory tests were done: 1) Red blood cell count, venous blood hematocrit(micromethod), hemoglobin count (cyanomethemoglobin method) were checked every 5 to 7 day interval. 2) Plasma iron concentration (Barkan's modified method) was determined every 2 to 3 week interval. 3) Radioisotope studies: a) Ferrokinetics: Huff et al and Bothwell's method were applied. Erythropoietic Index (% of normal)=$\frac{Subject's\;turnover/100ml\;whole\;blood{\times}100}{Average\;normal\;turnover/100ml\;whole\;blood}$ of the gastrointestinal absorption of iron: Radioiron($^{59}Fe$) balance b) Quantitative measurement method was applied. c) Determination of the plasma erythropoietin activity: Fried's method was applied. Following were the results: 1) The serum iron level was lower. The red cell volume was decreased, but with relative increase of plasma volume. 2) The plasma iron disappearance time was accelerated and the plasma iron turnover rate was decreased. The red cell iron turnover rate was markedly increased, while all of the red cell iron concentration, circulating red cell iron. plasma iron pool were decreased. The daily iron pool turnover and red cell renewal rate were increased. 3) The erythropoietic index, erythropoietin activity and intestinal absorption of iron($^{59}Fe$) were markedly increased. 4) The infectivity was $9.8{\pm}1.31%$ which was lower than that observed in the single infection. 5) From these observations, it is concluded that the hookworm anemia is essentially iron deficieny in its origin and some immunity acquisition is possible with repeated infections.

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Epidemiological studios on Metagonimus infection along the Hongcheon river, Kangwon Province (강원도 홍천강 유역의 Metagonimus속 흡충 감염상)

  • 안영훈;양용석
    • Parasites, Hosts and Diseases
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    • v.26 no.3
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    • pp.207-214
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    • 1988
  • The Hongcheon river system knows down through the Hongcheon area of Kangwon-do, and reaches to the Cheongpyeong "Dam in Kyonggi.do. Stool specimens from the inhabitants residing along the Hongcheon river basin were examined to detect infection rates of Metagonimus sp. , and the intermediate hosts were collected to detect larval stages. The results obtained were as follows: 1. Thirty-nine (33 males and 6 females) out of 529 (314 males and 215 females) inhabitants were infected with Metagonimus sp., showing a total positive rate of 7.4%. 2. In eight areas surveyed, the specimens from Kulji.ri of Bukbang-myon at the middle part of the river showed the highest positive rate of 26.9% (14 positives out of 52) (males; 38.2%), The specimens from Mogog-ri of Seo-myon at the downstream of the river showed a positive rate of 10.4%(13 positives out of 125) (males; 12.6%). The positive rates in other regions were less than 10%. 3. The density of the first intermediate host, Semisulcospira sp., was the highest in Kulji.ri of Bukbang-myon (10~20 snails per $m^2$), and the infection rate of Metagonimus cercariae in the snails was 10.7%(13 positives out of 121 snails). 4. The infection rate of Metagonimus metacercariae in Zacco platypus, the freshwater Bish favorably eaten raw by the inhabitants, was 68.25 (30 positives out of 44 fishes), and most metacercariae were detected under the scales (89.95). 5. Adult flukes were obtained from the small intestine of a rat, 15 days after infection with the metacercariae obtained from Z. platypus. These adult cukes were identified to be the same species as thcse obtained from human hosts. By this survey, new endemic areas of Metagonimus infection were discovered along the Hongcheon river basin and the main source of infection was the fresh water ash, Z. platypus.

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The Study on Clinical Characteristics of Taeeumin Dry-Heat Symptomatic Patten (태음인(太陰人) 조열병증(燥熱病證)의 임상적 특징에 대한 연구(硏究))

  • Kim, Yun-Hee;Kim, Sang-Hyuk;Jang, Hyun-Su;Hwang, Min-U;Lee, Jun-Hee;Lee, Eui-Ju;Koh, Byung-Hee
    • Journal of Sasang Constitutional Medicine
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    • v.21 no.1
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    • pp.85-98
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    • 2009
  • 1. Objective The object of this study was to understand the clinical characteristics of the Taeeumin Symptomatic Pattem. 2. Methods The patients visiting the department of Sasang Constitution of Traditional Korean Medicine clinic from June to November of 2008 were used in this study. Those who showed a favorable turn after over ten days of medication and who showed up for at least two follow-up sessions were chosen among first-time visitors. Of these, 75 patients identified and verified to be of the TE type were chosen for the study sample. The Taeeumin were verified into two groups according to clinical symptoms into Exterior Cold Disease and Interior Heat Disease groups, of which the Interior Heat Disease group was further subdivided into the Galgeun-medicament group and the Cheongshimyeonja-tang group, based on questionnaire results. The Exterior Cold Disease group was set as the control group in order to contrast and compare it with the study group, the Interior Heat Disease group. 3. Results and Conclusions The questionnaire items shown to differentiate the Exterior Cold Symptomatic Patterm and the Interior Heat Symptomaic Pattern (indicating Heat-affceted Liver Symptomatic Pattern) were related to "dryness of stool," "dark urine colorm," "dryness of nose," and "dryness of lips." The items shown to differentiate the Galgeun-medicament group and the Cheongshimyeonja-tang group (of the Dry - Heat Symptomatic Pattern) were related to "nausea," "stifling sensations and palptation," "disturbed sleep," and "dizziness." Therefore, the sleep pattern, palpitation, dizziness, and nausea can be said to be indicators of the Interior Heat Symptomatic Pattern, and Dry-Heat symptoms are better distinctions between the Chongshimyeonja-tang group and the Galgeun-medicament group than Heat-affected Liver symptoms.

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Study of Antioxidation Action of Lenonuri herba Extract (익모초 추출물의 항산화 작용에 관한 연구)

  • Kim Jee Young;Lee Youn Hee;Kim Ju Yon;Roh Bo Kyung
    • Journal of the Society of Cosmetic Scientists of Korea
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    • v.31 no.2 s.51
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    • pp.189-196
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    • 2005
  • Motherwort (Leonurus sibiricus L), a hemp nettle (Labiatae) plant, grows about 1.5${\~}$2 m high spontaneously to wildness in Korea, China, Japan, and other Asian place. Its medical applications includes women's uterine disease, urination, bloody stool, bloody urine, and hemorrhoids. It's also effective for high blood pressure, heart stimulation, and anti-cancer activity. We first prepared chlroform and methanol extracts of motherwort and then they were fractionated using water, $30\%$ methanol, $60\%$ methanol, and $100\%$ methanol, respectively. Each fractionates is assayed for free radical scavenging activities against DPPH and anti-oxidant activity by TBARS assay measuring lipid peroxidation using LDL. The $30\%$ and $60\%$ methanol fractionates of methanol extracts showed strong anti-oxidant activity compared to vitamin C. They also had more Potent SOD activity using pyrogallol at 250 ppm than that of vitamin C. These results suggest that anti-oxidant activities of motherwort may be applicable to development of natural anti-oxidant cosmetics. Possibility of nature anti-oxidation ability cosmetics is seen possibility low official.