• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.3
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• pp.117-122
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• 2016

제1형 고셔병(Gaucher disease type 1)은 리소좀 효소인 산성 ${\beta}$-글루코시다아제(acid ${\beta}-glucosidase$)의 결핍으로 인한 리소솜 축적 질환이다. 효소 활성도가 감소되어 기질이 축적되어, 간비종대, 빈혈, 혈소판감소증 및 골질환을 포함한 전신 증상이 발생한다. 재조합 효소 단백을 정맥 주입하는 효소 대체요법(Enzyme replacement therapy)는 지난 20년 넘게 고셔병의 표준 치료법이었다. 그러나 성공적인 효소 대체요법에도 불구하고, 심각한 폐증상과 골격 증상 등 고셔병 치료에 여전히 해결되지 않는 문제들이 남아 있다. 기질 감소 치료(Substrate reduction therapy)는 기질의 생합성을 억제하여 축적을 감소시킨다. 최근 새로운 경구용 기질감소 치료제인 엘리글루스타트(eliglustat)가 적합한 CYP2D6 대사 표현형을 가진 고셔병 성인 환자를 위한 1차 치료제로 미국과 유럽에서 승인되었다. 엘리글루스타트가 아직 한국에서는 쓰이지 않고 있지만, 본 종설에서는 문헌 검토를 통해 고셔병의 새로운 치료로서의 효소 대체요법을 소개하고자 한다. 아직 확고한 결론을 도출하기에는 연구 결과가 제한적이기는 하지만, 현재까지의 데이터에 따르면 엘리글루스타트는 임상 효능에 있어서 효소 보충 요법에 비열등성을 보인다. 장기 결과에 대한 추가 연구가 필요하지만, 엘리글루스타트의 승인은 해당 1형 고셔병 성인 환자들에게 경구 치료제라는 새로운 선택을 가능하게 하였다. 향후 국내에서 엘리글루스타트가 처방 가능해 지면, 각 환자 마다 철저한 평가를 통해 치료법을 선택할 수 있도록 해야 할 것이다. 나아가, 국내 1형 고셔병 환자들을 위해 엘리글루스타트의 사용에 관한 임상적 지침 또한 조만간 개발될 필요가 있다.

• Journal of Gastric Cancer
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• v.5 no.1
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• pp.29-33
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• 2005

Purpose: To determine the prognostic values of the hematologic parameters checked preoperatively in gastric cancer patients, we evaluated and compared the relationship between hematologic parameters and clinicopathologic factors of gastric cancer patient. Materials and Methods: The medical records of 357 consecutive patients who had undergone surgery for gastric cancer at the Department of Surgery, Hanyang University Hospital, between Dec. 2,000 and Dec. 2003 were reviewed. To exclude any adverse effect of invasive procedures to hematologic parameters, the samples taken immediately at outpatient department was used. The normal range of serum albumin was defined above 3.5 g/dl, serum hemoglobin above 12 g/dl, and serum platelet count under $400\times10^{3}{\mu}l$. Patients were defined as group 1 when any of these parameters was abnormal, and defined as group 2 when all parameters were normal. The relationships between hematologic parameters and survival rate were investigated. Results: The mean values of platelet count increased, but level of serum albumin and serum hemoglobin decreased significantly according to the advancement of the disease stage (P=0.000). The differences of depth of tumor invasion and lymph node metastasis between the group 1 and the group2 was statistically significant (P=0.001). Three-year survival difference between group 1 and group 2 was significant (P=0.037). Conclusion: The hematologic parameters checked preoperatively in patients of gastric cancer are simple and cheap, meanwhile reflect the general condition of the patients. Any presence of anemia, hypoalbuminemia, or thrombocytosis can predict the progression of the disease and poor survival rates.

• Pediatric Infection and Vaccine
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• v.16 no.2
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• pp.215-219
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• 2009

Mycoplasma pneumoniae is a common cause of community-acquired pneumonia in children, with a peak incidence at 5-14 years. Extrapulmonary manifestations occur in 20-25% of patients with M. pneumoniae infection. Most auto-antibodies that cause immune hemolytic anemia in humans are cold agglutinins. The formation of cold agglutinins is frequently observed during M. pneumoniae infections, and cold agglutinin disease usually occurs during M. pneumoniae infections. Nevertheless, severe hemolysis is exceptional. If a patient has any underlying disease related to hemolysis, it is possible to accelerate hemolysis. Hereditary spherocytosis is a common cause of hereditary hemolytic anemia resulting from red blood cell membrane defects. Hemolysis of red cells may result from corpuscular abnormalities or extracorpuscular abnormalities, such as immune or non-immune mechanisms. We report a case of hereditary spherocytosis associated with severe hemolytic anemia due to Mycoplasma pneumonia.

• Journal of the Korean Society of Radiology
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• v.13 no.3
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• pp.359-369
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• 2019

To evaluate the effect of simultaneous use of platelet glycoprotein IIb / IIIa receptor blocker and catheter assisted thrombus aspiration in the treatment of coronary stent thrombosis. 267 patients ($64.6{\pm}12.1years$, 187 men) with stent thrombosis on coronary angiography at Chonnam National University Hospital from July 2008 to July 2017 were enrolled. We devided two groups based on treatment modalities: Group I (N=32, platelet glycoprotein IIb / IIIa receptor blocker and thrombo-aspiration), Group II (N =235, either platelet glycoprotein IIb /IIIa receptor blocker or thrombo-aspiration, or none of both), and the major cardiac events including death, revascularization and stent thrombosis were followed up for 1 year. There were no significant differences in clinical characteristics between the two groups including age (Group I: $60.8{\pm}12.9$ vs. Group II: $65.1{\pm}11.9$, p= 0.603), male (Group I: 75.0% vs. Group II: 69.4%, p=0.681), and left ventricular ejection fraction (Group I: $58.1{\pm}9.0%$ vs. Group II: $59.5{\pm}11.9%$, p= 0.127). The major cardiac events did not differ between the two groups (Group I: 12.5% vs. Group II: 23.8%, p=0.180). The secondary endopoints were as followings: The mortality rate (Group I: 0% vs. 13.2%, Group II: p=0.034), target lesion revascularization (Group I: 9.4% vs Group II: 6.4%, p=0.461) and stent thrombosis (Group I: 3.1% vs. Group II: 4.7%, p=1.000). In conclusion, in the treatment of coronary artery stent thrombosis, simultaneous use of platelet glycoprotein IIb / IIIa receptor blocker and thrombus aspiration was associated with better clinical outcomes regarding 1 year mortality.

• The Journal of Dong Guk Oriental Medicine
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• v.8 no.1
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• pp.171-190
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• 1999

This following is effect of Buthus martensi Karsch(BMK) extract on dextran-thrombus model, KCN-induced coma, cytotoxicity of brain etc. BMK extract significantly increased number of platelet and fibrogen and significantly shortened the prothrombin time as compared with control group treated with dextran. BMK extract didn't affect the changes of hematocrit as compared with control group treated with dextran. BMK extract induced a significant inhibition of human platelet aggregation induced by thrombin and ADP but did not affect human platelet aggregation induced by collagen. BMK extract showed a protective effect on pulmonary thrombosis induced by collagen and epinephrine. BMK extract prolonged the duration of KCN-induced coma and showed a protective effect on cytotoxicity of PC12 cells induced by amyloid ${\beta}$ protein(25-35) in a dose dependent manner. These results suggested that BMK extract might be usefully applied for prevention and treatment of thrombosis and brain damage.

• Neonatal Medicine
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• v.15 no.1
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• pp.61-66
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• 2008

Purpose : The purpose of this study was to describe the epidemiologic features of febrile illnesses in newborns and to predict the risk of serious infections in this population. Methods : A retrospective study was conducted on 123 full-term infants <30 days of age with an axillary temperature >38$^{\circ}C$ who were hospitalized between 2000 and 2006. Neonates with prenatal risk factors, congenital anomalies, antibiotic administration prior to admission to the hospital, or suspected hospital-acquired infections were excluded. We evaluated the symptoms, physical examination findings, laboratory data, and clinical course between the high- and low-risk groups for serious infections. Results : The high-risk group included 30 infants with the following diagnoses in order of frequency: aseptic meningitis, urinary tract infection, bacterial meningitis, infectious enteritis, sepsis concomitant with disseminated intravascular coagulopathy, bacteremia, pneumonia, cellulitis, and omphalitis. Leukocytosis and thrombocytopenia were statistically different between the two groups. Factors, such as moaning signs, seizures, body temperature, and pulse rate were statistically significant. Conclusion : Unlike previous studies, we included newborns with clinical bacterial infections and aseptic meningitis as the high-risk group. Leukocytosis, thrombocytopenia, moaning signs, seizures, and changes in vital signs were considered useful predictors for identifying febrile neonates at high-risk for serious infections in spite of a difference in the definition of serious infection.

• Clinical and Experimental Pediatrics
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• v.53 no.3
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• pp.428-431
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• 2010

Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy characterized by endothelial cell damage, resulting in microangiopathic hemolytic anemia, thrombocytopenia, and various degrees of neurological and renal impairment caused by microvascular thrombi. It is rare in children and frequently follows a fatal course. TTP is divided into 2 types: one is inherited and associated with ADAMTS-13 gene mutations and the other is acquired and associated with anti-ADAMTS-13 autoantibodies. The measurement of ADAMTS-13 activity in plasma, identification of ADAMTS-13 circulating inhibitor, anti-ADAMTS-13 IgG, and ADAMTS-13 gene sequencing are crucial to the diagnosis of TTP. Plasma exchanges are the first-line treatment for acquired TTP, combined with steroids and immunosuppressive drugs. Here, we describe the case of an adolescent patient with TTP, confirmed by decreased level of ADAMTS-13 activity and an increased level of ADAMTS-13 inhibitor, who was successfully treated by plasma exchanges.

• Pediatric Infection and Vaccine
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• v.29 no.3
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• pp.155-160
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• 2022

Children and adolescents with coronavirus disease 2019 (COVID-19) generally have mild symptoms. Severe infection due to severe acute respiratory syndrome coronavirus 2 (SARSCoV-2) involving multiorgan dysfunction is rare in this population. Herein, we present an unusual case of severe SARS-CoV-2 infection with multiorgan involvement followed by multisystem inflammatory syndrome in children (MIS-C) in a vaccinated 16-year-old boy. The patient was unconscious on initial presentation, and had severe paralytic ileus. On laboratory examination, there was severe metabolic acidosis, lymphocytopenia, thrombocytopenia, elevated inflammatory markers, elevated liver enzymes, and evidence of acute kidney injury with proteinuria and hematuria. His symptoms improved with the administration of remdesivir and dexamethasone. The patient briefly experienced MIS-C 2 weeks after the diagnosis of COVID-19, but the patient was discharged without any complications.

• Journal of the korean academy of Pediatric Dentistry
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• v.34 no.3
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• pp.468-472
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• 2007

The Wiskott-Aldrich Syndrome (WAS) is an inherited immunodeficiency caused by a variety of mutations in the gene encoding the WAS protein (WASp). First described in 1937 by Wiskott, the incidence of WAS has so far been estimated at 4 in 106 live births. The Wiskott-Aldrich Syndrome is an X-linked condition characterized by 1) an increased tendency to bleed caused by a reduced number of platelets, 2) recurrent bacterial, viral and fungal infections, and 3) eczema of the skin. The purpose of this report is to present cases highlighting the clinical features of the syndrome and the required considerations in the treatment of patients. The report consists of two particular cases: a 2-year-11-month-old boy seen for a routine oral examination prior to his bone marrow transplantation and a 2-year-6-month-old boy with herpes gingivostomatitis and teeth discoloration.

• Journal of Yeungnam Medical Science
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• v.6 no.2
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• pp.247-255
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• 1989

We report a case of polycythemia vera combined with coagulation disorder. The patient was 54 years old man who complained of continuous bleeding after incision of skin abscess 20days ago. Laboratory tests were revealed prolonged aPTT and slightly prolonged PT. Coagulation factor, I, VIII, IX, XI and fibrinogen decreased, however FDP did not increased. It appears that patient with polycythemia vera have chronic activation of coagulation system, probably initiated by activation of factor XII. Platelet aggregation test to ADP, collagen, epinephrine was also revealed poor response.