Epidemiology of Congenital Bleeding Disorders: a Nationwide Population-based Korean Study

윤회수,한유진,김영진,김민진,변자민,Youk Taemi,이재희,박태성,유종하 대한의학회 2020 Journal of Korean medical science Vol.35 No.39

Background: Except for data in the Korea Hemophilia Foundation Registry, little is known of the epidemiology of congenital bleeding disorders in Korea. Methods: Data were obtained from the Korean Health Insurance Review and Assessment Service (HIRA) database. Results: From 2010 to 2015, there were 2,029 patients with congenital bleeding disorders in the Korean HIRA database: 38% (n = 775) of these patients had hemophilia A (HA), 25% (n = 517) had von Willebrand disease (vWD), 7% (n = 132) had hemophilia B (HB), and 25% (n = 513) had less common factor deficiencies. The estimated age-standardized incidence rate (ASR) of HA and HB was 1.78–3.15/100,000 and 0.31–0.51/100,000, respectively. That of vWD was 1.38–1.95/100,000. The estimated ASR of HA showed increase over time though the number of new patients did not increase. Most patients with congenital bleeding disorders were younger than 19 years old (47.8%), and most were registered in Gyeonggi (22.1%) and Seoul (19.2%). Conclusion: This is the first nationwide population-based study of congenital bleeding disorders in Korea. This study provides data that will enable more accurate estimations of patients with vWD. This information will help advance the comprehensive care of congenital bleeding disorders. We need to continue to obtain more detailed information on patients to improve the management of these diseases.

우측 대장 게실염의 초음파소견 및 병리소견과의 관계

윤회수,김영훈,김정숙,조우호,차순주,임성직,이진호,김영덕 대한초음파의학회 2002 ULTRASONOGRAPHY Vol.21 No.2

A Recent Update on Histiocytic Disorder in Children: Focus on Diagnosis and Treatment

윤회수 대한소아혈액종양학회 2020 Clinical Pediatric Hematology-Oncology Vol.27 No.1

The histiocytosis is rare disorder characterized by the accumulation of macrophages, dendritic cells, or monocyte-derived cells in various tissues and organs of children and adults. Classifying histiocytic disorders is difficult and has changed over time as an understanding of the biology of these cells has evolved. The most recently revised 2016 WHO classification of histiocytosis and neoplasms of the macrophagedendritic cell lineages has proposed grouping this diverse group of over 100 clinical entities into five main groups based on clinical, histologic, and molecular relevance. Comprehensive genomic studies for histiocytosis have been described and our understanding of the pathogenesis and biology has increased over the past decade. These advances will be able to make precision medicine and targeted therapy possible in patients with histiocytosis. Among the histiocytosis, this review mainly focuses on the updated diagnosis and treatment of Langerhans cell histiocytosis (LCH) and hemophagocytic lymphohistiocytosis (HLH) in children.

Percutaneous Excision of a Benign Breast Mass Using Ultrasound-guided, Vacuum-assisted Core Biopsy: A Review of 197 Cases with Long Term Follow-up

윤회수,한헌,김선미,문진희,이현,고성혜,김삼수,전용환,이지원,김형래 대한초음파의학회 2010 ULTRASONOGRAPHY Vol.29 No.1

Purpose: To assess long term results of excising benign masses using ultrasound (US)-guided, vacuum-assisted core biopsy (Mammotome). Materials and Methods: We enrolled 163 patients (197 masses) receiving USguided excision using vacuum-assisted core biopsy and follow-up sonography in this retrospective study. The masses were category 3 as determined by ultrasound imaging according to the Breast Imaging Reporting and Data System (BI-RADS) (n=145)or pathologically confirmed as benign masses by a previous core-needle biopsy although category 4a and 4b (n = 52). Pathology, the presence of hematoma and residual tissue, as well as scar formation were assessed. Results: We diagnosed 190 (96.5%) benign masses, 4 (2.0%) malignant masses,and 3 (1.5%) high-risk lesions. Most (176 masses, 91.2%) were excised completely as demonstrated by the follow-up ultrasound examination. Scar changes were minimal (68.7%) or moderate (31.3%), with regression in 53%. Conclusion: US-guided excision using vacuum-assisted core biopsy is effective for the removal of benign breast masses. The majority of scars are minimal, with good cosmetic effect. However, subsequent excision should be done for malignant masses or phyllodes tumor because radiologic absence does not guarantee complete removal. 목적: 양성 유방 병변에 대한 초음파 유도 하 진공흡입종괴제거술 후 장기 추적 검사 결과와 그 효율성에 대해 알아보고자 한다. 대상 및 방법: 후향적 연구로 초음파 유도 하 진공흡입종괴제거술을 시행하고 추적 초음파를 시행 받은 163명의환자의 197개의 병변을 대상으로 하였다. ACR BIRADS에근거하여 145개의 병변은 카테고리 3으로, 52개의 병변은 초음파상 카테고리 4a, 4b로 판단되었지만 초음파 유도 하 진공흡입 종괴제거술 전에 시행한 코아생검법 (core needle biopsy)에서 양성으로 판명되어 대상 군에 포함시켰다. 병리 결과를 살펴보았고, 초음파 유도 하진공흡입 종괴제거술의 효율성을 알아보기 위하여 혈종의유무, 잔류 병변 여부를 분석하였다. 초음파 유도 하 진공흡입 종괴제거술 절제 부위의 반흔성 변화를 시사하는 저에코성 병변도 분석하였다. 결과: 190개의 양성 병변 (96.5%), 4개의 악성 병변(2.0%)과 3개의 고위험병변 (1.5%)이 병리학적으로 진단되었다. 197개의 병변 중에 178개의 병변 (90.4%)이완전히 제거되었음을 추적 초음파를 통하여 확인하였다. 초음파 유도 하 진공흡입 종괴제거술 후의 반흔성 변화는최소 변화 (68.7%)와 중등도 변화 (31.3%)로 구별되었으며 53%에서 반흔성 변화를 시사하는 저에코성 병변의크기가 줄어들었다. 결론: 초음파 유도 하 진공흡입 종괴제거술은 양성 유방병변 제거에 효과적이다. 대부분의 반흔성 변화는 최소변화로 좋은 미용적 효과를 보였다. 하지만 영상 검사로 보이는 완전 절제 소견이 병리적인 완전 절제를 보장하지 않으므로, 악성 병변이나 엽상종의 경우에는 외과적 절제를 다시 시행하는 것이 바람직하다.

소아청소년기의 철결핍성 빈혈

윤회수 대한의사협회 2011 대한의사협회지 Vol.54 No.7

Iron deficiency anemia (IDA) frequently occurs in infants and adolescents. IDA is the result of an interplay between increased host requirements, limited external supply, and increased blood loss. In outpatient clinics, we often see children with iron deficiency anemia. Most cases in children are caused by incomplete nutrient supplements and growth spurts. However, we can occasionally see patients with poor response despite iron supplementation. Failure of iron therapy occurs when a child does not receive the prescribed medication, when iron is given in a form that is poorly absorbed, or when there is a continuing unrecognized blood loss such as intestinal or pulmonary loss, or loss with menstrual periods. In addition, the therapeutic failure of iron medication may indicate that the original diagnosis of nutritional iron deficiency was incorrect. In this situation,we have to evaluate other etiologies of anemia. Recently, many cases relating H.pylori infection to iron deficiency anemia have been described in the literature and H.pylori infection has emerged as a cause of refractory iron deficiency anemia that is unresponsive to oral iron therapy. Also, iron deficiency anemia induced by athletics in adolescent females has been reported several times. In this article, the author reviews various etiologies of childhood iron deficiency anemia. The most important consideration in treatment of iron deficiency anemia is disclosure of the underlying cause and its recovery. Dietary habits should also be corrected. To supplement iron, 6 mg/kg of oral iron supplements (elemental iron) is recommended in ferrous salt form. If oral administration is not feasible, intravenous supplementation is recommended using forms such as iron dextran,iron gluconate, or iron sucrose.

소아 출혈성질환의 감별진단

윤회수 대한의사협회 2016 대한의사협회지 Vol.59 No.9

Bruising and bleeding are common events in children. The pediatrician must be able to determine whether a child’s symptoms are normal or perhaps indicative of hemorrhagic disorders. A thorough medical history and physical examination should enable the pediatricians to identify those patients warranting further evaluation. This review describes the characteristics of the medical history, physical examination, and clinical laboratory testing that are important in recognizing clinically significant bleeding disorders. This review will help the pediatrician to perform the initial laboratory evaluation, differentiate for patients with bleeding tendency and make the correct diagnosis for a variety of cases.

High Remission Rate of Chronic Immune Thrombocytopenia in Children: Result of 20-Year Follow-Up

윤회수,김채영,이은혜 연세대학교의과대학 2016 Yonsei medical journal Vol.57 No.1

Purpose: This study examined the outcomes of children with chronic immune thrombocytopenia (ITP). Materials and Methods: We retrospectively analyzed the medical records of all patients diagnosed with ITP from January 1992 to December 2011 at our institution. Results: A total of 128 patients (64%) satisfied the criteria for newly diagnosed ITP, 31 (15%) for persistent ITP, and 41 (21%) for chronic ITP. The median age at diagnosis was 4.5 years (range, 1 month to 18 years). The median platelet count at diagnosis was 32×109/L. A comparison of the initial treatment data from 2001 to 2011 with those from 1992 to 2000 showed that the number of bone marrow examinations decreased, whereas observation increased. Chronic ITP presented at an older age than newly diagnosed and persistent ITP (6.6 years vs. 3.8 years vs. 4.1 years, respectively); however, the difference did not reach statistical significance (p=0.17). The probability of complete remission of chronic ITP was 50% and 76% at 2 and 5 years after diagnosis, respectively. Patientsaged <1 year at diagnosis had a significantly better prognosis than did older patients (hazard ratio, 3.86; p=0.02). Conclusion: Children with chronic ITP showed a high remission rate after long-term follow-up. This study suggests that invasive treatments such as splenectomy in children with chronic ITP can be delayed for 4 to 5 years if thrombocytopenia and therapeutic medication do not affect the quality of life.

산전 초음파로 발견된 일측성 수신증의 생후 1개월 때의 초음파 소견에 따른 1년 추적 결과

윤회수,염미선,이주훈,박영서,김건석,윤종현,문대혁,한혜원 대한소아청소년과학회 2006 Clinical and Experimental Pediatrics (CEP) Vol.49 No.1

Purpose : The natural courses of prenatally diagnosed hydronephrosis(HN) are diverse. Our purpose was to determine if the findings of renal ultrasonography(USG) in patients with prenatal HN at 1 month of age can predict the 1 year follow-up results and determine the guideline of follow-up study. Methods : Among 462 hydronephrotic patients registered between 1996 and 2004, 153 unilateral hydronephrotic renal units were enrolled in this study, bilateral HN, vesicoureteral reflux and other associated anomaly were excluded. These were classified into four groups respectively, according to anterior posterior pelvic diameter(APPD) or Society for Fetal Urology(SFU) grading by USG findings at 1 month after birth. Renal USG and Tc99m-mercaptoacetyl triglycerine(MAG3) scan were done according to a set protocol. Results : Most cases improved or remained stationary. No one underwent an operation SFU grade 1,2 groups and only one case of SFU grade 3 group was operated. Thirty two cases(64 percent) were operated on among the 50 cases of SFU grade 4 group. 0/2(0 percent), 5/11(45.5 percent), 11/ 17(64.7 percent) and 16/20(80 percent) were operated on in each group with APPD <10, 10-19, 20- 29, >30 mm, and the operation risk is higher as the APPD is increased. Conclusion : In group with SFU grade below 3 and APPD below 10 mm, we can delay the follow- up study beyond existing set protocol. Operations are recommended immediately if diuretic renogram show the obstructive pattern or decreased renal function in SFU grade 4 group with APPD over 10 mm. 목 적 : 신생아 수신증은 산전 초음파가 널리 시행됨으로써 그 빈도가 증가하고 있다. 그러나 출생 후 수신증의 자연경과에 대한 이해는 아직 부족한 상태이다. 저자들은 산전 초음파에서 발견되어 산후 수신증으로 진단된 환아들에서 생후 1개월 때의 초음파 소견에 따른 1년 추적 결과를 알아보고, 초기 초음파 소견에 따라 이들의 경과를 예측해보고 치료방침을 세우는데 도움이 되고자 하였다.방 법 : 1996년 11월부터 2004년 4월까지 산전 초음파상에서 수신증이 발견되어 생후 1개월에 시행한 신초음파검사상 수신증이 확인된 기타 요로기형이 없는 일측성 수신증 환아 중 서울아산병원 소아과에서 1년 이상 추적 관찰했던 153명의 환아를 대상으로 하였다. 신초음파검사상에서 신우전후경(anterior posterior pelvic diameter, APPD)과 Society for Fetal Urology(SFU) 지수 분류 정도에 따라 결과를 분석하였다.결 과 : 초기 신초음파 소견 중 APPD가 20 mm 미만인 군의 경우에는 대부분 좋아지거나 변화가 없었고, SFU 지수가 1, 2군의 경우에도 대부분 좋아지거나 변화가 없었으며 수술한 경우는 한 례도 없었다. 3군의 경우에는 13례 중 1례(7.5%)만이 수술을 받았고 대부분 변화가 없었다. 4군의 경우에는 50례 중 32례(64%)가 수술을 받았다. SFU 지수 4군 안에서는 APPD의 크기가 증가할수록 수술 위험도가 높아 10 mm 미만, 10-19 mm, 20-29 mm, 30 mm 이상에서는 각각 0/2례(0%), 5/11례(45.5%), 11/17례(64.7%), 16/20례(80%)가 수술을 받았다.

전이성 골종양에서 $^{18}F$ FDG PET/CT를 이용한 원발성 악성 질환의 진단

윤회수,Yoon, Hoi-Soo 대한근골격종양학회 2008 대한골관절종양학회지 Vol.14 No.1

목적: 전이성 골종양에서 $^{18}F$ FDG (fluorodeoxyglucose) PET (positron emission tomography)/CT를 이용한 원발성 악성 종양의 진단적 유용성에 대해 보고하고자 한다. 대상 및 방법: 2003년 12월부터 2007년 12월까지 $^{18}F$ FDG PET/CT를 시행받았던 5,452명을 대상으로 후향적 연구를 시행하였다. 이들중 악성 종양의 과거력이 없으며 근골격계 동통을 호소하며 단순 방사선 검사에서 경계가 불분명한 골 파괴를 보이는 환자들에 대해 $^{18}F$ FDG PET/CT를 시행하였던 환자를 대상으로 하였으며 이들중 검사 결과에서 명백히 양성(definitively positive)으로 판정된 예만을 대상에 포함시켰다. 해당기간 중 18F FDG PET/CT를 시행한 총 5,452례중 180례(3.3%)가 기준에 해당되었으며 남자 96례, 여자 84례였다. 연령 분포는 22~90세였으며 평균 연령은 59.1세였다. 이들에 대해 원발성 악성 종양의 진단율, 나이 성별에 따른 원발성 악성 종양의 발생 및 전이성 골종양의 발생 위치에 대해 분석하였다. 결과: 원발 병소를 진단한 경우는 152례(84.4%)였으며 진단된 원발성 악성 종양은 폐암이 51례(28.3%), 유방암이 36례(18.9%), 소화기계암이 30례(16.7%)의 빈도를 보였으며 원발성 악성 종양에 의한 가장 흔한 해부학적 골전이 위치는 척추였다. 결론: $^{18}F$ FDG PET/CT는 원발성 악성 종양의 과거력이 없는 전이성 골종양 환자에서 원발 병소를 검출할 수 있는 효과적인 방법으로 생각된다. Purpose: To evaluate usefulness in diagnosing primary malignant lesion of metastatic bone tumor using $^{18}F$ FDG PET/CT. Material & Methods: Retrospective analysis was executed on 5,452 patients who were taken with $^{18}F$ FDG PET/CT between December 2003 and December 2007. 180 patients who had not any history of malignancy and complained musculoskeletal pain and had ill-defined osteolytic lesion in plain X-ray, were included. 96 male and 84 female were enrolled and mean age was 59.1 year old (22~90). We analyzed diagnostic accuracy, age and sex distribution of primary malignant lesion, location of metastatic lesion. Results: We could confirmed primary malignant lesion in 152 cases (84.4%). Most common malignant primary lesion was lung (28.3%), breast (18.9%) and gastrointestinal system (16.7%) and spine was the most common metastatic location of primary malignant lesion. Conclusion: $^{18}F$ FDG PET/CT is a effective molecular imaging detecting primary malignant lesion in patients having metastatic bone lesion without history of malignancy.

생물학적 반응조절물질

윤회수,최용성,이은혜 대한의사협회 2013 대한의사협회지 Vol.56 No.2

Biotherapy, often called biological therapy or immunotherapy, aims at supporting and helping in the treatment of human disease without chemical drugs and invasive therapies, by restoring the natural immune system. It is also used to reduce certain side effects that may be caused by some treatments against cancer, autoimmune diseases, or other diseases. Biotherapy employs substances called biological response modifiers (BRMs). The term BRM is often used synonymously with the terms immunomodulator and immunostimulant. BRMs are agents that modify the host’s response to pathogens with resultant beneficial prophylactic or therapeutic effects. The use of BRMs had rapidly expanded since the introduction of the first diagnostic antibodies. They are now employed in oncology, autoimmune diseases, inflammatory diseases,and transplantation medicine. BRMs used in biological therapy include interferones, interleukins,colony-stimulating factors, monoclonal antibodies, differentiation agents, tyrosine kinase inhibitor,tumor necrosis factor, vaccines, and nonspecific immunomodulating agents. BRMs are widely accepted in the treatment of certain types of cancer and rheumatoid arthritis, while others are being tested in research studies. This article reviewed the clinical use and side effects of BRMs in cancer and other diseases.