• Childhood Kidney Diseases
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• 제17권2호
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• pp.149-153
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• 2013

응고성 미세혈관병증은 빠른 진단이 예후에 중요한 인자이나, 현재의 진단 기준에 따라서는 thrombotic thrombocytopenic purpura, haemolytic uremic syndrome 외의 비전형적인 응고성 미세혈관병증의 진단이 늦어짐에 따라 나쁜 예후를 초래하게 되는 경우가 많다고 보고되어 있다. 본 저자들은 시행한 혈액 검사상 용혈의 증거가 없는 빈혈, 혈소판 감소증 그리고 급성 신부전을 보인 소아 환아에서 신조직 검사를 통해 비특이적 응고성 미세혈관병증을 진단받은 1증례를 보고하고자 한다. 14세 여자 환아는 3주간 지속된 발열, 구역과 전신 부종을 주소로 본원으로 전원되었다. 내원하여 시행한 혈액 검사상 빈혈과 혈소판 감소증을 보였으나, 용혈의 증거는 없었으며, 혈정 크레아티닌이 증가되어 있었다. 내원 이후 급성 신부전과 발열은 지속적으로 진행되었으며, 소변 검사상 단백뇨가 발생하였다. 환아는 내원 40일경 신고혈압과 동반된 전신 경련이 5분간 있어 뇌 자기 공명 영상을 촬영하였으며, 가역성 후백질 뇌병증 증후군의 양상을 보여 항 경련제 투여를 시작하였다. 이후 지속되는 혈소판 감소증 및 발열은 고용량 스테로이드 치료를 진행한 후 호전되었으나, 급성 신부전 및 단백뇨가 지속되어 신장 조직 검사를 진행하였으며, 검사 결과상 혈전성 미세혈관병증의 소견을 보였다. 이와 같이 조직검사상에서는 응고성 미세혈관병증을 보이나 전형적인 응고성 미세혈관병증의 혈액학적인 진단 기준이 충족되지 않는 비특이적 형태의 응고성 혈관병증의 효과적인 진단을 위하여 보체 기전이나 ADAMTS 13와 같은 유전자 범위의 보다 활발한 연구를 통한 효과적인 진단 기준의 마련이 되어야 할 것으로 보인다.

• Parasites, Hosts and Diseases
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• 제60권1호
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• pp.65-71
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• 2022

Severe fever with thrombocytopenia syndrome virus (SFTSV) is a zoonotic, tick-borne RNA virus of the genus Bandavirus (Family Phenuiviridae), mainly reported in China, Japan, and the Republic of Korea (Korea). For the purpose of this study, a total of 3,898 adult and nymphal ticks of species Haemaphysalis longicornis (94.2%), Haemaphysalis flava (5.0%), Ixodes nipponensis (0.8%), and 1 specimen of Ixodes ovatus, were collected from the Deogyusan National Park, Korea, between April 2016 and June 2018. A single-step reverse transcriptase-nested PCR was performed, targeting the S segment of the SFTSV RNA. Total infection rate (IR) of SFTSV in individual ticks was found to be 6.0%. Based on developmental stages, IR was 5.3% in adults and 6.0% in nymphs. The S segment sequences obtained from PCR were divided into 17 haplotypes. All haplotypes were phylogenetically clustered into clades B-2 and B-3, with 92.7% sequences in B-2 and 7.3% in B-3. These observations indicate that the Korean SFTSV strains were closer to the Japanese than the Chinese strains. Further epidemiological studies are necessary to better understand the characteristics of the Korean SFTSV and its transmission cycle in the ecosystem.

• Journal of Yeungnam Medical Science
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• 제24권2호
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• pp.333-338
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• 2007

A preterm newborn affected by congenital syphilis, born to mother not treated during pregnancy is described. The clinical picture was characterized by respiratory distress, cutaneous manifestations, massive hepatosplenomegaly, severe anemia, thrombocytopenia, disseminated intravascular coagulation syndrome and hypoalbuminemia. The patient was treated with daily injections of 190,500 units of crystalline penicillin G for 14 days. Premature infants with these symptoms and signs should be evaluated for congenital syphilis.

• 한국임상수의학회:학술대회논문집
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• 한국임상수의학회 2007년도 추계국제학술대회 및 컨퍼런스
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• pp.619-619
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• 2007

• 한국임상수의학회지
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• 제17권2호
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• pp.346-348
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• 2000

In previous studies, high fever, inappentence, increased respiratory rate, muscle tremors, anemia, jaundice, loss of weight hemoglobinenuria and hemoglobinuria were found in dogs infected intraerythrocytic protzoan parasites of the gennus Babesia. These changes were mainly caused by the intravascular hemolysis. In this study, a Pit Bull Terrier, which was infected by babesia, was investigated clinical signs and patterms of blood. The findings from this study indicated that dog with severs clinical signs shown erythropenia, lymphocytophilia, neutropenia, thrombocytopenia and eosinpenia. Furthermore, it presenter low level of hemglobin and hematocrit. However MCV, MCH and MCHC did not decreased as compare to normal dogs.

• 한국콘텐츠학회:학술대회논문집
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• 한국콘텐츠학회 2016년도 춘계 종합학술대회 논문집
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• pp.433-434
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• 2016

Cerebellar atrophy was found that a patient was taking oral phenytoin for 3 years. 53 years old female patient with General tonic clonic(GTC) type seizure was prescribed phenytoin. In the process, she developed ataxic gate, dysarthria. Brain magnetic resonance imaging(MRI) finding was revealed differential diagnosis cerebellar atrophy. She was prescribed epileptol instead of phenytoin. But leukopenia, thrombocytopenia occurred. As a result, phenytoin restarted. Development of medical state decreased abuse of anticonvulsants. Considering various convulsive disorders, we must give attention to using anticonvulsants.

• 셀메드
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• 제13권5호
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• pp.20.1-20.3
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• 2023

Objective: A case report on the improvement of patients with hematologic malignancies by Ortho-Cellular Nutrition Therapy (OCNT). Methods: A 69-year-old Korean female diagnosed with Stage 4 ACUTE LYMPHOBLASTIC Leukemia (ALL) had a very low platelet count of 8000/µl. Results: The platelet count improved to its normal level after Ortho-Cellular Nutrition Therapy (OCNT). Conclusion: Ortho-Cellular Nutrition Therapy (OCNT) is effective in relieving the symptoms of acute lymphoblastic leukemia patients with thrombocytopenia.

• Clinical and Experimental Pediatrics
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• 제63권3호
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• pp.79-87
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• 2020

Inherited platelet disorders (IPDs), which manifest as primary hemostasis defects, often underlie abnormal bleeding and a family history of thrombocytopenia, bone marrow failure, hematologic malignancies, undefined mucocutaneous bleeding disorder, or congenital bony defects. Wide heterogeneity in IPD types with regard to the presence or absence of thrombocytopenia, platelet dysfunction, bone marrow failure, and dysmegakaryopoiesis is observed in patients. The individual processes involved in platelet production and hemostasis are genetically controlled; to date, mutations of more than 50 genes involved in various platelet biogenesis steps have been implicated in IPDs. Representative IPDs resulting from defects in specific pathways, such as thrombopoietin/MPL signaling; transcriptional regulation; granule formation, trafficking, and secretion; proplatelet formation; cytoskeleton regulation; and transmembrane glycoprotein signaling are reviewed, and the underlying gene mutations are discussed based on the National Center for Biotechnology Information database and Online Mendelian Inheritance in Man accession number. Further, the status and prevalence of genetically confirmed IPDs in Korea are explored based on searches of the PubMed and KoreaMed databases. IPDs are congenital bleeding disorders that can be dangerous due to unexpected bleeding and require genetic counseling for family members and descendants. Therefore, the pediatrician should be suspicious and aware of IPDs and perform the appropriate tests if the patient has unexpected bleeding. However, all IPDs are extremely rare; thus, the domestic incidences of IPDs are unclear and their diagnosis is difficult. Diagnostic confirmation or differential diagnoses of IPDs are challenging, time-consuming, and expensive, and patients are frequently misdiagnosed. Comprehensive molecular characterization and classification of these disorders should enable accurate and precise diagnosis and facilitate improved patient management.

• Clinical and Experimental Pediatrics
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• 제55권2호
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• pp.48-53
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• 2012

Purpose: Gaucher disease is caused by a ${\beta}$-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population. Methods: Clinical findings at diagnosis, $GBA$ mutations, and clinical courses were reviewed in 20 patients diagnosed with Gaucher disease. Results: Eleven patients were diagnosed with non-neuronopathic type, 2 with acute neuronopathic type, and 7 with chronic neuronopathic type. Most patients presented with hepatosplenomegaly, thrombocytopenia, and short stature. In the neuronopathic group, variable neurological features, such as seizure, tremor, gaze palsy, and hypotonia, were noted at age $8.7{\pm}4.3$ years. B cell lymphoma, protein-losing enteropathy, and hydrops fetalis were the atypical manifestations. Biomarkers, including chitotriosidase, acid phosphatase, and angiotensin-converting enzyme, increased at the initial evaluation and subsequently decreased with enzyme replacement treatment (ERT). The clinical findings, including hepatosplenomegaly, thrombocytopenia, and skeletal findings, improved following ERT, except for the neurological manifestations. L444P was the most common mutation in our cohort. One novel mutation, R277C, was found. Conclusion: Although the clinical outcome for Gaucher disease improved remarkably following ERT, the outcome differed according to subtype. Considering the high proportion of the neuronopathic form in the Korean population, new therapeutic strategies targeting the central nervous system are needed, with the development of a new scoring system and biomarkers representing clinical courses in a more comprehensive manner.

• Advances in pediatric surgery
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• 제3권2호
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• pp.133-142
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• 1997

Hepatoblastoma is a rare pediatric malignancy which frequently presents at an advanced un resectable stage. With the neoadjuvant chemotherapy, improved resectability and survival have been reported. Twenty children with biopsy proven hepatoblastoma were treated during the period between January 1987 and June 1995. Median age at diagnosis was 13 months(2 months to 7 year and 10 months), and 13 were male. Histologic profile was 13 epithelial(5 fetal, 4 mixed, 1 embryonal, 3 undetermined), and 5 mixed mesenchymal and epithelial and 2 of undetermined type. Chemotherapy effectively reduced the tumor volume($p$=0.008), and was able to convert 7 out of 9 initially unresectable cases(78%) to resectable ones. Twelve radical and 2 palliative operations were done with or without adjuvant chemotherapy. The Median follow up period was 33 months and the median survival was 26 months. The group with curative resection had a 61.1% 5 year survival rate, but none of palliative resection group survived more than 13 months($p$=0.0001). In univariate analysis for prognostic factors revealed, large tumor size at diagnosis and abscence of thrombocytopenia were associated with poor survival, but these differences were not statistically significant. Histological pure fetal type did not mean a better prognosis. Even with a recent neoadjuvant chemotherapy, the strategy should be focused on the radical resection as early as possible.