Chorea is an uncommon movement disorder of systemic lupus erythematosus (SLE) and/or antiphospholipid syndrome (APLS). It frequently develops early in the course of SLE and is not recurrent in most patients. In this report, we presented the clinical features of two cases of recurrent chorea secondary to APLS associated with SLE. A 24 year-old woman with SLE for 10 years was admitted because of choreic movement involved both extremities, facial and neck muscles. She had the same episode 1.5 years ago. Laboratory investigation showed increment in SLE activity, prolongation of aPTT without correction by mixing with normal plasma, and positive lupus anticoagulant. Brain MRI and SPECT revealed no evidence of ischemic change. The second case, a 36-year-old lady with SLE for 8 years, was admitted due to recurrent dysarthria. On physical examination, she had choreic movement involved neck and tongue. The activity of her disease increased and lupus anticoagulant was positive. Brain MRI showed infarct in insular cortex and multiple high signals in the frontal and occipital lobes. In both cases, haloperidol rapidly brought their symptom under control. We describe the first cases of secondary APLS-related recurrent movement disorder in Korea and review the literatures.
Adult ; Antibodies, Antiphospholipid ; Antiphospholipid Syndrome* ; Brain ; Chorea* ; Dysarthria ; Extremities ; Female ; Glycogen Storage Disease Type VI ; Haloperidol ; Humans ; Korea ; Lupus Coagulation Inhibitor ; Lupus Erythematosus, Systemic* ; Magnetic Resonance Imaging ; Movement Disorders ; Neck ; Neck Muscles ; Occipital Lobe ; Physical Examination ; Plasma ; Tomography, Emission-Computed, Single-Photon ; Tongue ; Young Adult

OBJECTIVE: To set up the methodology for PCR analysis of XbaI/intron 22 polymorphism of the factor VIII gene, and to identify the usefulness of XbaI/intron 22 polymorphism analysis for carrier detection and prenatal diagnosis of hemophilia A in the Korean population. DESIGN: A laboratory analysis. MATERIALS AND METHODS: A XbaI/intron 22 polymorphism of the factor VIII gene was analyzed in 56 unrelated Korean mothers of patients with severe hemophilia A, using polymerase chain reaction. RESULTS: Analysis of XbaI/intron 22 polymorphisms of the factor VIII gene were feasible by PCR method. The expected heterozygosity rates of XbaI/intron 22 polymorphism of the factor VIII gene were 44.8%. Analysis of XbaI/intron 22 polymorphism revealed heterozygous patterns in 22 (39.3%) of 56 mothers studied. Using linkage analysis with XbaI/intron 22 polymorphism, we have attempted one case of carrier detection and two cases of prenatal diagnosis in two families of patients with severe hemophilia A. CONCLUSION: These results suggest that PCR analysis of the XbaI/intron 22 polymorphism within the factor VIII gene is very useful in the carrier detection and prenatal diagnosis of hemophilia A in the Korean population.
Diagnosis* ; DNA* ; Factor VIII ; Hemophilia A* ; Humans ; Molecular Biology* ; Mothers ; Polymerase Chain Reaction* ; Prenatal Diagnosis

Klebsiella pneumoniae causes pyogenic infections in various sites, with the risk of which increases in patients with diabetes mellitus. Recently, K. pneumoniae has emerged as a leading cause of pyogenic liver abscess. Primary liver abscess caused by K. pneumoniae in the absence of underlying hepatobiliary disease is commonly associated with metastatic infections such as endophthalmitis, meningitis, brain abscess and infection in other sites. We experienced a case of K. pneumoniae liver abscess associated with septic metastatic lesions including pyomyositis and infected aneurysm of aorta. Despite the aggressive management with antibiotics, surgical pus drainage and aortic bypass graft, patient died of ventilator associated pneumonia and multiorgan failure. Our experience suggests that clinicians should be alert to septic metastatic infections when they treat a patient with K. pneumoniae liver abscess.
Aneurysm, Infected ; Anti-Bacterial Agents ; Aorta ; Aortic Aneurysm ; Brain Abscess ; Diabetes Mellitus ; Drainage ; Endophthalmitis ; Humans ; Klebsiella ; Klebsiella pneumoniae ; Liver ; Liver Abscess ; Liver Abscess, Pyogenic ; Meningitis ; Pneumonia ; Pneumonia, Ventilator-Associated ; Pyomyositis ; Suppuration ; Transplants

Klebsiella pneumoniae causes pyogenic infections in various sites, with the risk of which increases in patients with diabetes mellitus. Recently, K. pneumoniae has emerged as a leading cause of pyogenic liver abscess. Primary liver abscess caused by K. pneumoniae in the absence of underlying hepatobiliary disease is commonly associated with metastatic infections such as endophthalmitis, meningitis, brain abscess and infection in other sites. We experienced a case of K. pneumoniae liver abscess associated with septic metastatic lesions including pyomyositis and infected aneurysm of aorta. Despite the aggressive management with antibiotics, surgical pus drainage and aortic bypass graft, patient died of ventilator associated pneumonia and multiorgan failure. Our experience suggests that clinicians should be alert to septic metastatic infections when they treat a patient with K. pneumoniae liver abscess.
Aneurysm, Infected ; Anti-Bacterial Agents ; Aorta ; Aortic Aneurysm ; Brain Abscess ; Diabetes Mellitus ; Drainage ; Endophthalmitis ; Humans ; Klebsiella ; Klebsiella pneumoniae ; Liver ; Liver Abscess ; Liver Abscess, Pyogenic ; Meningitis ; Pneumonia ; Pneumonia, Ventilator-Associated ; Pyomyositis ; Suppuration ; Transplants

PURPOSE : Since the year 2000, lung cancer has been the leading cause of cancer death in South Korea and also in many other parts of the world. MATERIALS AND METHODS : We developed a multidisciplinary (MD) care system for lung cancer patients in 1996. Here, we report the results obtained in the process of development of MD team (MDT). RESULTS : The MDT was launched with including medical doctors, chest surgeons, radiation oncologists, radiologists, nuclear medicine specialists and physician assistants. To facilitate co-operation between the MDT members, a specialized out-patient clinic was located within a sector of the hospital. A common ward was allocated for lung cancer patients regardless of the department of the attending physician. Shared electronic medical record forms that were specialized for lung cancer were developed. The MDT operates weekly lung cancer conferences and multidisciplinary out-patient clinics. To make diagnostic or therapeutic decisions early on, the electronic medical records of the patients were previewed or consulted by the specialists before they meet the individual patients. CONCLUSION : Despite every effort, we still need to shorten the waiting time from presentation to the first treatment and we need to improve the patients' satisfaction. We also have a mission to develop our own regulations and guidelines for our lung cancer MD care system. Clinical trials and basic research should also be encouraged along with improving the quality of life of the team members
Congresses as Topic ; Electronic Health Records ; Humans ; Lung ; Lung Neoplasms ; Missions and Missionaries ; Nuclear Medicine ; Outpatients ; Physician Assistants ; Quality of Life ; Republic of Korea ; Social Control, Formal ; Specialization ; Thorax

We report here on a case of non-Hodgkin's lymphoma in which liver involvement was the predominant clinical manifestation. A healthy 44-year-old man presented with upper abdominal pain, hepatosplenomegaly, thrombocytopenia, elevated AST, ALT and bilirubin, and marked elevation of lactate dehydrogenase and alkaline phosphatase. The abdominal CT scan showed only diffuse hepatosplenomegaly and uneven contrast enhancement of the spleen without any definite mass of the liver and spleen. US-guided aspiration biopsy of liver and the histologic examination confirmed a diagnosis of non-Hodgkin's lymphoma, the diffuse large B cell type. Bone marrow biopsy showed the infiltration of malignant lymphoma cells. PET-CT showed an increased FDG uptake of the liver, spleen and long bones. The patient was treated with combination regimen of cyclophosphamide, doxorubicin, vincristine and prednisone chemotherapy. Even in the absence of a mass lesion or lymphadenopathy, primary hepatic or hepatosplenic lymphoma should be considered in differential diagnosis of hepatitis or liver cirrhosis, especially for patients with diffuse hepatosplenomegaly and markedly elevated LDH.
Adult ; Diagnosis, Differential ; English Abstract ; Hepatitis/*diagnosis ; Humans ; Liver Neoplasms/*diagnosis/pathology ; Lymphoma, B-Cell/*diagnosis/pathology ; Male

The coronavirus disease 2019 (COVID-19) pandemic has caused more than 100 million infections and 2 million deaths worldwide. In up to 20% of cases, COVID-19 infection can take a severe, life-threatening course. Therefore, preventive measures such as mask-wearing, hand hygiene, and social distancing are important. COVID-19 vaccines that use novel vaccine technology can prevent up to 95% of infections. However, the uncertainty regarding the efficacy and safety of vaccination in patients with autoimmune inflammatory rheumatic disease (AIIRD), who are immunocompromised due to underlying immune dysfunction and concomitant immunosuppressive treatment, warrants clear guidance. A task force of the Korean College of Rheumatology formulated a set of vaccination guidance based on the currently available data and expert consensus. The currently available COVID-19 vaccines are considered to be safe and effective. Every patient with AIIRD should receive one of the available COVID-19 vaccines unless contraindicated for medical reasons such as prior allergy/anaphylaxis to the COVID-19 vaccine or its components. Patients should continue immunosuppressive treatment for their underlying AIIRD, including biological and targeted synthetic disease-modifying anti-rheumatic drugs (b/tsDMARDs). Corticosteroids should be reduced to the lowest dose possible without aggravating the AIIRD. To improve the vaccine response, methotrexate can be withheld for 1–2 weeks after each vaccination, and the timing of rituximab and abatacept infusion should be adjusted if clinically acceptable.Rheumatologists should play a leading role in educating and vaccinating patients with AIIRD.

The coronavirus disease 2019 (COVID-19) pandemic has caused more than 100 million infections and 2 million deaths worldwide. In up to 20% of cases, COVID-19 infection can take a severe, life-threatening course. Therefore, preventive measures such as mask-wearing, hand hygiene, and social distancing are important. COVID-19 vaccines that use novel vaccine technology can prevent up to 95% of infections. However, the uncertainty regarding the efficacy and safety of vaccination in patients with autoimmune inflammatory rheumatic disease (AIIRD), who are immunocompromised due to underlying immune dysfunction and concomitant immunosuppressive treatment, warrants clear guidance. A task force of the Korean College of Rheumatology formulated a set of vaccination guidance based on the currently available data and expert consensus. The currently available COVID-19 vaccines are considered to be safe and effective. Every patient with AIIRD should receive one of the available COVID-19 vaccines unless contraindicated for medical reasons such as prior allergy/anaphylaxis to the COVID-19 vaccine or its components. Patients should continue immunosuppressive treatment for their underlying AIIRD, including biological and targeted synthetic disease-modifying anti-rheumatic drugs (b/tsDMARDs). Corticosteroids should be reduced to the lowest dose possible without aggravating the AIIRD. To improve the vaccine response, methotrexate can be withheld for 1–2 weeks after each vaccination, and the timing of rituximab and abatacept infusion should be adjusted if clinically acceptable.Rheumatologists should play a leading role in educating and vaccinating patients with AIIRD.

BACKGROUND: Diamond Blackfan anemia (DBA), characterized by impaired red cell production, is a rare condition that is usually symptomatic in early infancy. The purpose of this study was to assess nationwide experiences of DBA encountered over a period of 20 years. METHODS: The medical records of 56 patients diagnosed with DBA were retrospectively reviewed from November 1984 to July 2010. Fifteen institutions, including 13 university hospitals, participated in this study. RESULTS: The male-to-female ratio of patients with DBA was 1.67:1. The median age of diagnosis was 4 months, and 74.1% were diagnosed before 1 year of age. From 2000 to 2009, annual incidence was 6.6 cases per million. Excluding growth retardation, 38.2% showed congenital defects: thumb deformities, ptosis, coarctation of aorta, ventricular septal defect, strabismus, etc. The mean hemoglobin concentration was 5.1+/-1.9 g/dL, mean corpuscular volume was 93.4+/-11.6 fL, and mean number of reticulocytes was 19,700/mm3. The mean cellularity of bone marrow was 75%, with myeloid:erythroid ratio of 20.4:1. After remission, 48.9% of patients did not need further steroids. Five patients with DBA who received hematopoietic transplantation have survived. Cancer developed in 2 cases (3.6%). CONCLUSION: The incidence of DBA is similar to data already published, but our study had a male predilection. Although all patients responded to initial treatment with steroids, about half needed further steroids after remission. It is necessary to collect further data, including information regarding management pathways, from nationwide DBA registries, along with data on molecular analyses.
Anemia ; Anemia, Diamond-Blackfan ; Aortic Coarctation ; Bone Marrow ; Congenital Abnormalities ; Diamond ; Erythrocyte Indices ; Heart Septal Defects, Ventricular ; Hemoglobins ; Hospitals, University ; Humans ; Incidence ; Korea ; Male ; Medical Records ; Registries ; Reticulocytes ; Retrospective Studies ; Steroids ; Strabismus ; Thumb ; Transplants

These guidelines aim to establish the standard practice for diagnosing and treating patients with differentiated thyroid cancer (DTC). Based on the Korean Thyroid Association (KTA) Guidelines on DTC management, the “Treatment of Advanced DTC” section was revised in 2024 and has been provided through this chapter. Especially, this chapter covers surgical and nonsurgical treatments for the local (previous surgery site) or regional (cervical lymph node metastasis) recurrences. After drafting the guidelines, it was finalized by collecting opinions from KTA members and related societies. Surgical resection is the preferred treatment for local or regional recurrence of advanced DTC. If surgical resection is not possible, nonsurgical resection treatment under ultrasonography guidance may be considered as an alternative treatment for local or regional recurrence of DTC. Furthermore, if residual lesions are suspected even after surgical resection or respiratory-digestive organ invasion, additional radioactive iodine and external radiation treatments are considered.