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Clinical and Biochemical Diagnosis in Children with Leigh Syndrome (Leigh 증후군 환자의 임상적 생화학적 진단)

  • Lee, Sun Ho;Jeon, Mina;Lee, Hyun Joo;Park, Dae Young;Kim, Se Hoon;Lee, Young-Mock
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.15 no.2
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    • pp.72-77
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    • 2015
  • Purpose: Deficits of the respiratory chain are reported to be the major cause of Leigh syndrome is said to be the underlying causes. The need for biochemical diagnosis to draw more accurate diagnosis or prognosis to support treatments is rapidly increasing. This study tried to analyze the aspects of clinical characteristics and biochemical diagnosis of mitochondrial respiratory chain complex (MRC) defect in Leigh syndrome, using methods of biochemical enzyme assay. Methods: We included total number of 47 patients who satisfied the clinical criteria of Leigh syndrome and confirmed by biochemical diagnosis. All those patients went through muscle biopsy to perform biochemical enzyme assay to analyze MRC enzyme in order to find the underlying cause of Leigh syndrome. Results: MRC I defect was seen in 23 (48.9%) cases taking the first place and MRC IV defect in 15 (31.9%) following it. There were 9 (19.2%) cases of combined MRC defect. Combined cases of type I and IV were detected in 7 (14.9%) patients while type I and V in 2 (4.3%). The onset age of symptom was less than 1 year old in 28 (59.6%). The most common early symptom, observed in 23 (48.9%), was delayed development, but there were other various neurological symptoms observed as well. In regard with the disease progression, 35 (74.5%) patients showed slowly progressive course, the one that progressed continuously but slowly over 2 years of period. As for Maximum motor development, 22 (46.8%) were bed-ridden state, most of them suffering serious delayed development. Patients showed various symptoms with different organs involved, though neuromuscular involvement was most prominent. Delayed development was seen in all cases. Multifocal lesion in brain MRI study was seen in 36 (76.6 %) cases, taking a greater percentage than 11 (23.4%) cases with single lesion. In MR spectroscopy study, the characteristic lactate peak of mitochondrial disease was identified in 20 (42.6%) patients. Conclusions: Further analysis of clinical and biochemical diagnosis on more extended group of patients with Leigh syndrome will enable us to improve diagnostic precision and to understand the natural course of mitochondrial disease.

Early Detection and Successful Treatment of Vertically Transmitted Fulminant Enteroviral Infection Associated with Various Forms of Arrhythmia and Severe Hepatitis with Coagulopathy

  • Lee, So Ra;Ko, Sun Young;Yoon, So Young;Lee, Yeon Kyung;Shin, Son Moon
    • Pediatric Infection and Vaccine
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    • v.26 no.3
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    • pp.199-205
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    • 2019
  • Enteroviral infections are common in neonates. One important infection pathway is vertical transmission from an infected mother to her neonate. Here, we report the early detection and successful treatment of a vertically transmitted fulminant enteroviral infection associated with myocarditis and hepatitis. The patient had a sudden onset of high fever on the fourth day of life and developed severe, rapidly progressing symptoms of disseminated intravascular coagulopathy (DIC), hepatitis, and myocarditis accompanied by tachyarrhythmia. As it was the peak season for enteroviral infections and both the mother and the patient's 36-month-old sibling had a high fever around the time of delivery, we suspected an enteroviral infection. Thus, we initiated prompt evaluation of enteroviral infection, as well as close observation and intensive care of the neonate. We strongly recommend evaluation for the possibility of vertical enterovirus infection in neonates when the mother is suspected of having a viral infection (e.g., high fever and negative results from bacterial infectious studies) around the time of delivery and when the neonate shows some early symptoms of infectious diseases such as thrombocytopenia, DIC, hepatitis, and myocarditis. Early detection of enteroviral infections and prompt implementation of proper treatment are key to reduce the risk of complications and mortality associated with enteroviral infections in neonates.

The Analysis on Clinical Characteristics of Out-Patients of Oriental Thyroid Clinic (한방병원 갑상선 클리닉 내원 환자들의 임상적 특성 분석)

  • Byun, Sang-Hyuk;Kim, Soon-Il;Kang, Ki-Hoon;Lee, Byung-Cheol;Ahn, Young-Min;Doo, Ho-Kyung;Ahn, Se-Young
    • The Journal of Internal Korean Medicine
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    • v.26 no.1
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    • pp.213-220
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    • 2005
  • Objective : Thyroid diseases are one of the most common endocrine disorders. However, the first chosen-treatments including anti-thyroidal and hormone-supplement therapy in western medicines, sometimes have failed to improve abnormal thyroid hormone secretions and clinical symptoms. Therefore, there has been a growing expectation for Oriental Medicine to take the role of alternative therapy. However, there has been little analysis of clinical characteristics. In this study, clinical characteristics of thyroidal disease patients who visited Kyung-Hee oriental hospital from January to July 2004 were analyzed. Methods : A total 86 patients diagnosed as hyperthyroidism, hypothyroidism or thyroid nodule were selected. Clinical history, including sex, age, symptoms, disease duration and methods of previous therapy and thyroidal test, such as thyroid function test (TFT), thyroid scan and other thyroid examinations. Results : In distribution of onset age and sex, the patients who have visited oriental hospital with thyroidal diseases showed similar characteristics with typical patients. In clinical symptom, the most frequent clinical sign was fatigue in both hyperthyroidism and hypothyroidism, which differs from the classical characteristics of those diseases. Most patients complained the unresolved symptoms, some of which are attributable to abnormal thyroid hormone secretions, in spite of western therapy with anti-thyroidal and hormone supplement agents. Conclusions : In oriental therapy, it will be necessary to consider the unique clinical features of thyroidal diseases different from classical patterns, and this study suggests that oriental therapy is a good alternative method for patients whose first treatment with western agents failed. Furthermore, more public information to these patients about oriental medicine would be helpful to increase cure rates, and give various choices to patients with thyroid diseases.

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High Alloying Degree of Carbon Supported Pt-Ru Alloy Nanoparticles Applying Anhydrous Ethanol as a Solvent

  • Choi, Kwang-Hyun;Lee, Kug-Seung;Jeon, Tae-Yeol;Park, Hee-Young;Jung, Nam-Gee;Chung, Young-Hoon;Sung, Yung-Eun
    • Journal of Electrochemical Science and Technology
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    • v.1 no.1
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    • pp.19-24
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    • 2010
  • Alloying degree is an important structural factor of PtRu catalysts for direct methanol fuel cells (DMFC). In this work, carbon supported PtRu catalysts were synthesized by reduction method using anhydrous ethanol as a solvent and $NaBH_4$ as a reducing agent. Using anhydrous ethanol as a solvent resulted in high alloying degree and good dispersion. The morphological structure and crystallanity of synthesized catalysts were characterized by X-ray diffraction (XRD), high resolution transmission electron microscope (HR-TEM). CO stripping and methanol oxidation reaction were measured. Due to high alloying degree catalyst prepared in anhydrous ethanol, exhibited low onset potential for methanol oxidation and negative peak shift of CO oxidation than commercial sample. Consequently, samples, applying ethanol as a solvent, exhibited not only enhanced CO oxidation, but also increased methanol oxidation reaction (MOR) activity compared with commercial PtRu/C (40 wt%, E-tek) and 40 wt% PtRu/C prepared in water solution.

Management of Pediatric Small Bowel Intussusception: Spontaneous Reduction vs Operation (소아의 소장 중첩증의 치료 : 자연 정복 vs 수술적 치료)

  • Kim, Eun-Young;Jung, Kyu-Whan;Park, Tae-Jin;Park, Kwi-Won;Jung, Sung-Eun;Kim, Hyun-Young
    • Advances in pediatric surgery
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    • v.16 no.2
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    • pp.117-125
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    • 2010
  • Unreduced small bowel intussusception requires operative treatment although the rate of spontaneous reduction is 60 to 70 %. The aim of this study is to compare clinical characteristics and outcome between spontaneous reduction and operation group and to analyze factors related to decisions to treat small bowel intussusceptions. The records of 25 patients with small bowel intussusceptions treated in Seoul National University Children's Hospital from January 1999 to August 2009 were reviewed respectively. Spontaneous reduction group (n=12, 48 %) had signs and symptoms of vomiting, abdominal pain, currant jelly stool, abdominal distension, fever, increased CRP but no rebound tenderness. One of them had been diagnosed with Henoch-Schonlein purpura and no one displayed pathologic leading point by image study. Operation group (n=13, 52 %) consisted of patients who had primary surgery. Their signs and symptoms were similar to spontaneous reduction group. Seven of them had underlying diseases such as Crohn' disease, ALL, Lymphoma, Peutz-Jeghers syndrome (n=3), post-transplanted state of liver and 2 of them displayed Peutz-Jeghers polyp and Meckel's diverticulum as pathologic leading point by preoperative ultrasonography. Mean relieve interval (interval between onset of symptoms and reduction/operation) was 1.78 days in spontaneous reduction group and 2.25 days in operation group (p=0.341). Seven of operation group had manual reduction and 6 out of 7 received segmental resection of the small bowel. No one of them underwent manual reduction and all of them underwent segmental resection were found to have pathologic leading points [Peutz-Jeghers polyp (n=3), Meckel's diverticulum (n=2), lymphoma (n=1)] during operation. In conclusion, 48% of small bowel intussusceptions resolved spontaneously. Patients' symptoms and relieve intervals were not related to the operative decisions. We therefore recommend significant factors for determining treatment plan such as change of clinical symptoms, underlying disease or pathologic leading point by imaging.

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Critically Ill Patients with Pandemic Influenza A/H1N1 2009 at a Medical Center in Korea

  • Choi, Eun-Young;Huh, Jin-Won;Lim, Chae-Man;Koh, Youn-Suck;Kim, Sung-Han;Choi, Sang-Ho;Kim, Won-Young;Kim, Won;Kim, Mi-Na;Hong, Sang-Bum
    • Tuberculosis and Respiratory Diseases
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    • v.70 no.1
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    • pp.28-35
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    • 2011
  • Background: The aim of the study was to describe the characteristics, treatments, and outcomes of critically ill patients with pandemic Influenza A/H1N1 2009 at a major medical center in Korea. Methods: This retrospective observational study examined critically ill adult patients with pandemic Influenza A/H1N1 2009, who were admitted to the AMC between August and December 2009. Results: 27 patients with confirmed pandemic Influenza A/H1N1 2009 were admitted to the intensive care unit (ICU) at the Asan Medical Center (AMC). The median age (IQR) was 59 years (41~67), and 66.7% of the patients were older than 51 years. A total of 81.5% of the patients had 2 or more co-morbidities. The median time (IQR) from symptom onset to presentation was 2 days (1~4), and the median time from presentation to ICU admission was 0 days (0~1.5). All patients received oseltamivir (300 mg/day) and 13 patients received triple combination therapy (oseltamivir, amantadine, ribavirin). Twelve patients required mechanical ventilation on the first day of ICU admission. A total of 6 patients (22.2%) died within 28 days of admission. The patients who died had significantly higher acute physiology and chronic health evaluation (APACHE) II and sequential organ failure assessment (SOFA) scores at presentation. There were no significant differences in age, co-morbidities, or antiviral regimens between survivors and non-survivors. Conclusion: Critical illness related to pandemic Influenza A/H1N1 2009 was common in elderly patients with chronic co-morbidities. All patients were given high-dose oseltamivir or triple combination antiviral therapy. Nonetheless, patients with critical illnesses associated with pandemic Influenza A/H1N1 2009 had a death rate of 22.2%.

The Relationship between Recurrent Abdominal Pain and Depressive Trends in School-Aged Children (학동기 소아에서 반복성 복통과 우울 성향과의 관계)

  • Ahn, Young-Joon;Moon, Kyung-Rye
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.5 no.2
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    • pp.166-173
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    • 2002
  • Purpose: Recurrent abdominal pain (RAP) is common, affecting between 7% and 25% of school-aged children and young adult. This study was designed to assess the relationship between RAP and depressive trends in school-aged children. Methods: In 1999, We surveyed 1,181 elementary school children (566 boys and 615 girls) whose ages ranged from 9 to 12 years. The degree of depression was compared between the group with RAP and normal control group without RAP according to Korean Children's Depression Inventory (CDI) of Kovacs and Beck. Results: The number of the group with RAP was significantly higher in female (25.7%) than in male (18.9%). The most common site of abdominal pain was periumbilical. The mean depression score in the group with RAP was higher than that of the control group. The depression score was significantly higher in the group with RAP who has frequently pain and additional symptoms. The depression score was significantly higher in the group with RAP who prefered to play alone, did not enjoy going to school and had few friends than in the group with RAP who had a lot of friends, had active and meticulous characters. The depression scores were not significantly different according to the duration of abdominal pain, the onset time of pain, and the day of pain in the group with RAP. Conclusion: The depression score of the group with RAP was higher than that of normal group. So, there is relatively a specific association between childhood RAP and depression in school aged children. It is good for physicians to consider psychological support in the treatment of childhood RAP.

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The past, present and future of silkworm as a natural health food (천연 건강식품인 누에의 과거, 현재 그리고 미래)

  • Kim, Kee-Young;Koh, Young Ho
    • Food Science and Industry
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    • v.55 no.2
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    • pp.154-165
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    • 2022
  • Humans have been breeding the mulberry silkworm for the long period of time to obtain silk fabric and nutrient-rich pupae. Currently, silkworm larvae, pupae, and silk-Fibroin hydrolysates are registered as food raw materials, while silkworm feces and Bombyx batryticatus are registered as Korean traditional medicines. Among sericulture products, individually recognized health functional food ingredients include silk-protein acid-hydrolysates for immunity enhancement, Fibroin-hydrolysates for memory improvement, and freeze-dried 5th instar and 3rd-day-silkworm powder for lowering-blood sugar. Recently, HongJam produced by steaming and freeze-drying mature silkworms were reported to have various health-promoting effects such as preventing the onset of Alzheimer's disease and Parkinson's disease, enhancing gastro-intestinal functions, improving skin-whitening and hair growth, and extending healthspan. By consuming silkworm products with various health-promoting effects, it is possible to increase the healthspan of human beings, thereby reducing personal and national medical expenses, resulting in increasing the individual's happiness.

Clinical study on recurrent Bell's palsy: A retrospective observational study (벨 마비 재발 환자에 대한 임상적 고찰: 후향적 관찰연구)

  • Kim, Min Ju;Choi, Hyeon Kyu;Cha, Hyun Ji;Lee, Young Rok;Jang, Hyun jin;Kim, So jeong;Jeon, Ju Hyun;Kim, Young Il
    • The Journal of Korean Medicine
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    • v.43 no.2
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    • pp.8-26
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    • 2022
  • Objectives: This study is designed to statistically analyze characteristics, treatment effect and prognosis of patients who were treated for the recurrent Bell's palsy Methods: This study retrospectively analyzed the medical records and telephone questionnaire of 82 patients treated with the recurrent Bell's palsy at the OO Korean Medicine hospital from August 01, 2018 to July 31, 2021. Results: The lower the EQ-VAS® and HB scale before and after treatment, the higher the satisfaction with the treatment. The average of the number of days and duration of outpatient treatment for male was longer than that for female. The average number of days and duration of outpatient treatment in the group that received combined treatment was longer than that of patients who received Korean Medicine only. The higher the satisfaction of treatment, the higher the willingness to receive treatment in the event of recurrent facial palsy. HB scale after treatment was the lowest in their 40s, and the average value of HB scale after treatment tended to increase as age increased except for those in their 40s. Conclusion: This study showed that the lower the HB scale after treatment, the lower the EQ-VAS®, the higher the treatment satisfaction, and the higher the probability receiving treatment if the facial paralysis recurs. Those in their 10s to 40s showed excellent results after treatment. Comparatively, those in their 50s and above showed a little effect after treatment. Gender, affected side, history of facial palsy, season of onset, age, hypertension and diabetes had no statistically significance with recurrent Bell's palsy prognosis.

A Study of Correlation Between Change in Pattern Identification and Scandinavian Stroke Scale in Ischemic Stroke Patient Who had Receive Traditional Korean Medical Treatment and Conservative Treatment (한·양방 병행치료를 시행한 뇌경색 환자의 변증지표 변화와 Scandinavian Stroke Scale의 상관관계에 대한 연구)

  • Lu, Hsu-yuan;Kim, Soo-kyung;Lee, Ji-hyun;Shim, So-ra;Park, Joo-young;Cho, Seung-yeon;Park, Seong-uk;Jung, Woo-sang;Moon, Sang-kwan;Park, Jung-mi;Cho, Ki-ho;Kim, Young-suk;Bae, Hyung-sup;Ko, Chang-nam
    • The Journal of the Society of Stroke on Korean Medicine
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    • v.13 no.1
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    • pp.24-32
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    • 2012
  • Object : The purpose of this study is to observe the correlation between change in pattern identification symptoms and scandinavian stroke scale in ischemic stroke patient who had receive traditional Korean medical treatment and conservative treatment. Methods : 43 subjects were recruited from patients with ischemic stroke within 30 days of onset. We chose the subjects who had at least one follow up session and had checked the score between last follow up session and first session in pattern identification and scandinavian stroke scale. We also assessed the correlation between pattern identification and scandinavian stroke scale. Results : There were significant negative correlation between pattern identification and scandinavian stroke scale in Fire-heat pattern and positive correlation in Dampness-phlegm pattern. Conclusions : This study provides evidence that collaborative treatment maybe effective in improving neurologic symptoms in ischemic stroke patients diagnosed as Fire-heat pattern. Further studies with larger scale and longer observation period, more neurologicscales scales, control group would be required.

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