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

This research was performed to investigate the effects of NEP (Nutritional Education Practice) program developed by KHyDDI (Korea Hypertension Diabetes Daegu Initiative) for hypertension and diabetes patients. The subjects were 116 patients (hypertension 70, diabetes 46) who had completed basic education program at the education information center and four-session program was implemented for them. Nutrient intake was analyzed and compared before and after the program by 24-hr recall method and evaluate weight, waist circumference, body fat, blood pressure and eating habits in terms of nutrition knowledge, eating behavior, salty taste assessment. The improved results after the program were observed in weight, waist circumference, body fat ratio, blood pressure, slightly salty taste in salty taste assessment, nutrition knowledge, eating behavior, sodium, energy, carbohydrate and protein intake ratio to total energy (p < 0.001). Therefore, this program is effective in the improvement of weight, waist circumference and eating behavior, and the continued management would lead to the prevention of cardio-cerebrovascular diseases in the community.
Adipose Tissue ; Blood Pressure ; Eating ; Feeding Behavior ; Humans ; Hypertension ; Information Centers ; Nutrition Assessment ; Sodium ; Waist Circumference

The human leukocyte antigen (HLA), the major histocompatibility complex (MHC) in humans has been known to reside on chromosome 6 and encodes cell-surface antigen-presenting proteins and many other proteins related to immune system function. The HLA is highly polymorphic and the most genetically variable coding loci in humans. In addition to a critical role in transplantation medicine, HLA and disease associations have been widely studied across the populations world-wide and are found to be important in prediction of disease susceptibility, resistance and of evolutionary maintenance of genetic diversity. Because recently developed molecular based HLA typing has several advantages like improved specimen stability and increased resolution of HLA types, the association between HLA alleles and a given disease could be more accurately quantified. Here, in this review, we have collected HLA association data on some autoimmune diseases, infectious diseases, cancers, drug responsiveness and other diseases with unknown etiology in Koreans and attempt to summarize some remarkable HLA alleles related with specific diseases.
Alleles ; Autoimmune Diseases ; Chromosomes, Human, Pair 6 ; Clinical Coding ; Communicable Diseases ; Disease Susceptibility ; Genetic Variation ; Histocompatibility Testing ; Humans ; Immune System ; Leukocytes ; Major Histocompatibility Complex ; Proteins ; Transplants

Marssonina coronaria associated with apple blotch disease causes severe premature defoliation, and is widely distributed in Korea. Thirteen isolates were collected from orchards located in Gyeongbuk Province from 2005~2007. All isolates displayed over 99.6% and 99.2% sequence similarity to each other in internal transcribed spacer regions and partial sequences of 28S rDNA, respectively. The isolates were phylogenetically closely related to Chinese isolates. Selected isolates did not differ in their pathogenicity. The optimum conditions for fungal growth were 20degrees C and pH 6 on peptone potato dextrose agar (PPDA). Peptone and mannose were the best nitrogen and carbon source, respectively. Fungal growth was better on PPDA than on common potato dextrose agar. This study provides valuable information for integrated disease management program and facilitates the routine culturing of M. coronaria.
Agar ; Asian Continental Ancestry Group ; Carbon ; Diazonium Compounds ; Disease Management ; DNA, Ribosomal ; Glucose ; Humans ; Hydrogen-Ion Concentration ; Korea ; Mannose ; Nitrogen ; Peptones ; Phylogeny ; Pyridines ; Solanum tuberosum

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

PURPOSE: Popular use of fetal ultrasonography has increased to detect congenital hydronephrosis(CH) which is the most common anomaly prenatally detected. We'd like to determine the frequency and clinical characteristics of prenatally diagnosed CH and outcome of ureteropelvic junction stenosis(UPJS). METHODS: The records of births between January 1994 and June 2003 in Chonnam National University Hospital(CNUH), and the records of children who were diagnosed with CH in the Department of Pediatrics of CNUH during the above period, were retrospectively analyzed. In the patients with UPJS, the initial anterior posterior diameters of renal pelvis(APD) were compared between the spontaneous regression (SR) and operation group(OP). In the SR group, sequential regression rates of APD were estimated. RESULTS: Among a total 9,076 births, 231(2.54 percent) patients with 293 renal units were diagnosed as CH and 19(6.78 percent) renal units spontaneously regressed 3 days after birth. In 228 children(56 bilateral; 172 unilateral; total 284 renal units) diagnosed with CH in the department of pediatrics of CNUH, male(71.9 percent) and left kidney(69.2 percent) predilection were found and 78.1 percent of CH were caused by UPJS. The initial APD of the SR group(121 units) in UPJS was 7.8+/-6.28 mm, which was significantly smaller than the APD(26.8+/-12.14 mm) of the OP group(25 unit)(P<0.05). In the SR group, 81 percent spontaneously regressed within one year. CONCLUSIONS: In CH, male and left kidney predilection were found. UPJS was the most common cause of CH and initial APD in UPJS at 3 days of age was a good prognostic indicator. Close monitoring should be done for at least one year because most SR in UPJS regressed spontaneously within one year.
Child ; Constriction, Pathologic* ; Humans ; Hydronephrosis* ; Jeollanam-do ; Kidney ; Male ; Parturition ; Pediatrics ; Retrospective Studies ; Ultrasonography, Prenatal

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

Isolated relapse of myeloid leukemia as a granulocytic sarcoma(GS) following allogeneic bone marrow transplantation(BMT) is very rare manifestation, and usually associated with a poor prognosis. We report a case of isolated intracranial GS in an infant with myelodysplastic syndrome(MDS) following unrelated BMT. A 7 month-old girl was diagnosed with refractory anemia with excess blasts (RAEB). During observation for a couple months several GS developed in the scalp and blast counts in BM increased. Induction chemotherapy resulted in partial remission of BM but GS disappeared. Four months after diagnosis, an unrelated BMT was undertaken. Engraftment was uneventful. On D+160, an intracranial GS of 6.5 cm in size developed. A craniotomy and tumor removal was done. There was no evidence of relapse in BM with complete chimerism. Reinduction chemotherapy using IDA-FLAG resulted in profound neutropenia with pneumonia. She succumbed to respiratory failure despite leukocyte recovery. The optimal management for isolated relapse as GS following BMT should be established.
Infant ; Male ; Female ; Humans ; Bone Marrow Transplantation

PURPOSE: This study was performed to compare complications and perinatal factors according to the birth weight groups in the infants of diabetic mothers(IDM). METHODS: Three hundred and one singleton diabetic mothers and their babies of more than 30 weeks' gestational age admitted in the department of Pediatrics, Chonnam University Hospital from January 1996 to March 2002 were enrolled. Complications and perinatal factors were compared between large for gestational age(LGA) and appropriated for gestational age(AGA) infants. RESULTS: Hypomagnesemia was observed in 37.5%, jaundice in 21.3%, hypoglycemia in 11.1%, hypocalcemia in 7.0%, and birth injury in 19.6%. Congenital anomaly was noted in 24.9% with cardiovascular anomaly most commonly. In the LGA group, the frequencies of jaundice, hypoglycemia, tachypnea, and birth injuries were higher, and the interventricular septum was thicker than the AGA group. In the LGA group, Cesarean section rate, maternal height, weight before pregnancy, weight gain during pregnancy, and the incidence of unawareness of gestational DM were significant compared with the AGA group. CONCLUSION: In the LGA group, the frequencies of jaundice, hypoglycemia, tachypnea, and birth injuries were higher, and the interventricular septum was thicker than the AGA group. In the LGA group, maternal height, weight before pregnancy and weight gain during pregnancy were larger, and the incidence of unawareness of gestational DM was higher compared with the AGA group. These results suggest that careful examination and management are needed to detect the high risk, pregnant DM mothers with possible LGA babies.
Birth Injuries ; Birth Weight* ; Cesarean Section ; Female ; Gestational Age ; Humans ; Hypocalcemia ; Hypoglycemia ; Incidence ; Infant* ; Jaundice ; Jeollanam-do ; Mothers* ; Parturition* ; Pediatrics ; Pregnancy ; Tachypnea ; Weight Gain

PURPOSE: Twins have a higher mortality and morbidity than singletons. Co-twin with one fetal death is particularly at risk. We investigated the neonatal outcome of live co-twins when one fetus had died after the 20th gestational week, and associated risk factors. METHODS: A retrospective study was performed in fifteen cases of twin pregnancy with single intrauterine fetal deaths after the 20th gestational week during the period from January 1996 to December 2000 at Chonnam University Hospital. RESULTS: Gestational age was 33.7+/-3.2 weeks, birth weight was 1,992+/-592 g. Interval between one fetal death being detected and the delivery of a live co-twin was 32.4+/-29.5 days. There were 11 cases(73.3%) of premature babies less than 37 gestational weeks. Main causes of preterm delivery were preterm labor and premature rupture of membranes. Hematologic findings suggesting disseminated intravascular coagulopathy(DIC) were not found in all mothers before delivery, and was not associated with DIC and encephalomalacia of the live co-twin. Perinatal outcome of fifteen live co-twins was as follows : six were normal(40%), three were DIC(20.0%), three were encephalomalacia(20.0%), one suffered intrauterine growth retardation, there was one case of twin to twin transfusion syndrome, and one of congenital heart disease(atrial septal defect with pulmonary stenosis). The occurrence of DIC and encephalomalacia in live co-twins was not related to placental chorionicity, birth weight, gestational week, and the interval between the detection one fetal death and the delivery of a live co-twin. CONCLUSIONS: We could not find any maternal hematologic problems in twin pregnancies complicated by one fetal death. Twenty percent of live co-twins showed DIC and encephalomalacia. However, its associated risk factors were not found. We need to investigate more closely the cases of live co-twins with one intrauterine fetal death.
Birth Weight ; Chorion ; Dacarbazine ; Encephalomalacia ; Female ; Fetal Death* ; Fetal Growth Retardation ; Fetofetal Transfusion ; Fetus ; Gestational Age ; Heart ; Humans ; Jeollanam-do ; Membranes ; Mortality ; Mothers* ; Obstetric Labor, Premature ; Pregnancy ; Pregnancy, Twin* ; Retrospective Studies ; Risk Factors ; Rupture