Transient myeloproliferative disorder (TMD), which may mimic acute leukemia, occurs in neonates with Down syndrome along with hepatic fibrosis. TMD is recognized shortly after birth or in the neonatal period and is characterized by leukocytosis and thrombocytopenia, which resolve spontaneously in four to six weeks. And hepatic fibrosis is characterized by diffuse intralobular sinusoidal fibrosis, extramedullary hematopoiesis and hemochromatosis. A newborn male infant with Down syndrome, atrial septal defect and ventricular septal defect is reported. He showed abnormal myelopoiesis accompanying characteristic hepatic sinusoidal fibrosis. Knowing the cellular mechanism of hepatic fibrosis and its modulation by growth factors, a pathogenetic link between transient myeloproliferative disorder and the development of liver fibrosis in Down syndrome neonates, association of this triad no longer appears to be accidental.
Down Syndrome* ; Fibrosis* ; Heart Septal Defects, Atrial ; Heart Septal Defects, Ventricular ; Hematopoiesis, Extramedullary ; Hemochromatosis* ; Humans ; Infant ; Infant, Newborn ; Intercellular Signaling Peptides and Proteins ; Leukemia ; Leukocytosis ; Liver Cirrhosis ; Male ; Myelopoiesis ; Myeloproliferative Disorders* ; Parturition ; Thrombocytopenia

PURPOSE: To investigate the characteristics of the gray optic disc crescent and associated factors. METHODS: We retrospectively reviewed stereo fundus photographs of 590 glaucoma patients and 273 non-glaucoma patients. An experienced investigator evaluated the presence or absence of the gray crescent (a crescent-shaped, slate-gray pigmentation on the periphery of the neuroretinal rim) which is entirely inside the scleral crescent. Correlations with age, gender, refractive error, disc diameters, and the presence of glaucoma or peripapillary atrophy were also analyzed. RESULTS: Out of 863 patients, the gray crescent was observed in 166 patients and was found in 19.0% of glaucoma patients and 19.8% of non-glaucoma patients. The gray crescent was most often located temporally (30.1%) and most frequently occurred within only 1 quadrant (63.9%). The prevalence of the gray crescent was not correlated with refractive error (p = 0.61) or the occurrence of glaucomatous optic neuropathy (p = 0.25), but was significantly related to peripapillary atrophy (p < 0.001) and the horizontal diameter of the optic disc (p = 0.001). CONCLUSIONS: The gray optic disc crescent is a common finding within a glaucomatous or non-glaucomatous eye and factors significantly related to occurrence of the gray crescent include peripapillary atrophy and the horizontal diameter of the optic disc. Patients with gray crescent require special attention when the optic disc is examined.
Atrophy ; Glaucoma ; Humans ; Optic Nerve Diseases ; Pigmentation ; Prevalence ; Refractive Errors ; Research Personnel ; Retrospective Studies

Thiamine-responsive megaloblastic anemia (TRMA) syndrome is an early-onset autosomal recessive disorder characterized by megaloblastic anemia with ringed sideroblasts, diabetes mellitus and progressive sensorineural deafness, all of which respond in varying degrees to the administration of thiamine, in pharmacologic doses. TRMA syndrome has been reported in less than 30 families, but has never been reported in Korea. It has been demonstrated recently that TRMA is consistently associated with a defect in thiamine transport across cellular membranes and with impaired intracellular pyrophosphorylation. The TRMA syndrome gene, SCL19A2, locates on chromosome 1q23.2-23.3, and encodes a high-affinity thiamine transporter protein. We recently experienced 6 cases of thiamine-responsive megaloblastic anemia syndrome in a family, including a mother and five daughters. All the six cases revealed megaloblastic anemia refractory to vitamin B12 and folic acid therapy but responded to thiamine. We report the cases with a brief review of the literature.
Anemia, Megaloblastic* ; Deafness ; Diabetes Mellitus ; Folic Acid ; Humans ; Korea ; Megaloblasts* ; Membranes ; Mothers* ; Nuclear Family* ; Thiamine ; Vitamin B 12

PURPOSE: In 1970, the Berlin-Frankfurt-Munster(BFM) group introduced an intensification therapy after remission induction to reduce relapse of acute lymphoblastic leukemia(ALL) in childhood. Delayed intensification(DI) phase has been included for treatment of ALL in our hospital since the mid-1990s. The purpose of this study is to evaluate the outcome with vs. without DI phase and the outcome with two vs. one DI phase for intermediate risk patients. METHODS: One hundred and thirty nine children with ALL who were treated at the Department of Pediatrics of Wonju Christian Hospital and Yonsei University Medical Center between March, 1990 and July, 2002 were analysed retrospectively. RESULTS: Thirty-eight patients were treated with a DI phase, and 101 patients were treated without a DI phase. Among the DI patients, seven patients were treated with a double DI phase. Five-year overall survival(OS) in the low, intermediate, and high risk groups were 68%, 66% and 58%, respectively. 5-year OS in DDI, DI, and control were 95%, 86% and 40%, espectively. In the low risk group, 5-year event free survival(EFS) in DI, and control were 94% and 58%, respectively. CONCLUSIONS: Delayed intensification improved EFS on childhood ALL in all risk groups.
Academic Medical Centers ; Child ; Gangwon-do ; Humans ; Pediatrics ; Precursor Cell Lymphoblastic Leukemia-Lymphoma* ; Recurrence ; Remission Induction ; Retrospective Studies

BACKGROUND: Among the various diagnostic criteria for insulinoma, the ratio criteria have been controversial. However, the amended insulin-glucose ratio exhibited excellent diagnostic performance in a recent retrospective cohort study, although it has not yet been validated in other patient cohorts. We examined the diagnostic performance of the current criteria of the Endocrine Society, insulin-glucose ratio, C-peptide-glucose ratio, and amended ratios in terms of differentiating insulinomas. METHODS: We reviewed the medical records of patients who underwent evaluation for hypoglycemia from 2000 to 2013. Fourteen patients with histopathologically confirmed insulinoma and 18 patients without clinical evidence of insulinoma were included. The results of a prolonged fast test were analyzed according to the abovementioned criteria. RESULTS: Fulfilling all three Endocrine Society criteria-plasma levels of glucose (<3.0 mmol/L), insulin (> or =8 pmol/L), and C-peptide (> or =0.2 nmol/L)-exhibited 100% sensitivity and 89% specificity. Fulfilling the glucose and C-peptide criteria showed 100% sensitivity and 83% specificity, while fulfilling the glucose and insulin criteria showed 100% sensitivity and 72% specificity. Among the ratio criteria, the insulin-glucose ratio [>24.0 (pmol/L)/(mmol/L)] gave the highest area under the receiver operating characteristic curve, with 93% sensitivity and 94% specificity. CONCLUSION: Fulfilling the glucose, insulin, and C-peptide criteria of the Endocrine Society guidelines exhibited the best diagnostic performance for insulinoma. Nonetheless, the insulin-glucose ratio may still have a role in the biochemical diagnosis of insulinoma.
C-Peptide ; Cohort Studies ; Diagnosis* ; Glucose ; Humans ; Hypoglycemia ; Insulin ; Insulinoma* ; Medical Records ; Retrospective Studies ; ROC Curve ; Sensitivity and Specificity

In the original article, the legend of Fig. 1 was incorrect. The solid line was noninsulinoma, and the dotted line was insulinoma.

BACKGROUND: We examined the prevalence and clinical characteristics of aspirin resistance in the Korean patients with type 2 diabetes mellitus. METHODS: We studied 181 Korean patients with type 2 diabetes mellitus who were taking aspirin (100 mg/day for > or = 3 months) and no other antiplatelet agents. The VerifyNow System was used to determine aspirin responsiveness. Aspirin resistance was defined as an aspirin reaction unit (ARU) > or = 550. We measured the cardio-ankle vascular index (CAVI) and ankle-brachial index (ABI) to evaluate arteriosclerosis. The anthropometric parameters, electrocardiogram, blood pressure, fasting plasma glucose, lipid profiles, hemoglobin A1c, highly sensitive C-reactive protein (hsCRP), homocysteine, and microalbuminuria were measured in each patient. RESULTS: The prevalence of aspirin resistance in type 2 diabetic patients was 9.4% (17 of 181). Those who had aspirin resistance were older than those without aspirin resistance (64.6 +/- 10.6 vs. 59.8 +/- 8.1, P = 0.024). Aspirin resistance was not associated with fasting plasma glucose, total cholesterol, triglyceride, LDL-cholesterol, HDL-cholesterol, hemoglobin A1c, hsCRP, homocysteine, microalbuminuria, ABI, CAVI, and body mass index. CONCLUSION: Prevalence of aspirin resistance in the Korean patients with type 2 diabetes mellitus was 9.4%. Although aspirin resistance was associated with old age, we could not find any good clinical parameter to predict it. Therefore, aspirin resistance should be evaluated in diabetic patients taking aspirin for prevention of cardiovascular complications.
Ankle Brachial Index ; Arteriosclerosis ; Aspirin ; Blood Pressure ; C-Reactive Protein ; Cholesterol ; Diabetes Mellitus, Type 2 ; Electrocardiography ; Fasting ; Glucose ; Hemoglobins ; Homocysteine ; Humans ; Plasma ; Platelet Aggregation Inhibitors ; Prevalence

PURPOSE: Radiation-induced pulmonary fibrosis (RIF) is a significant complication of radiotherapy for lung cancer. Despite the large number of studies, the molecular mechanisms of RIF are poorly understood. Therefore, the complex protein expression pattern in RIF was characterized by identifying the proteins with an altered expression level after thorax irradiation using two-dimensional electrophoresis (2-DE) and mass spectrometry. MATERIALS AND METHODS: A mouse model of RIF was used to examine the alteration of the lung proteome because of availability of murine data related to human cases and the abundance of murine fibrotic lung samples. A mouse model of RIF was induced in radiosensitive C57BL/6 mice. Twenty-one weeks after 25 Gy irradiation, hematoxylin-eosin staining and hydroxyproline assay confirmed the early-phase pulmonary fibrosis. RESULTS: Lung samples from the irradiated and age-matched control mice were used to generate 16 high quality 2-DE gels containing approximately 1,000 spots. Of the 31 significantly up- or down-regulated protein spots, 17 were identified by MALDI-TOF/MS. CONCLUSIONS: Two important upregulated proteins were found, the alpha-protease inhibitor and galectin-1, which might be used as potential markers for the early phase of RIF.
Animals ; Electrophoresis ; Galectin 1* ; Gels ; Humans ; Hydroxyproline ; Lung ; Lung Neoplasms ; Mass Spectrometry ; Mice ; Proteome ; Proteomics ; Pulmonary Fibrosis* ; Radiotherapy ; Thorax

In a 54-year-old man with interstitial lung disease associated with dermatomyositis, acute exacerbation of the disease had occurred and massive pneumothorax, pneumomediastinum and extensive subcutaneous emphysema were developed while waiting for lung transplantation. He was supported by awake extracorporeal membrane oxygenation (ECMO) for 66 days and bridged to lung transplantation, but mechanical ventilation was not done during ECMO period and induction period to avoid tension pneumothorax and cardiac tamponade. Notable points of this report are that the days of ECMO support were long, the type was awake ECMO, and positive pressure ventilation was not done during whole pretransplant period including anesthesia induction. The transplantation was done successfully and the patient was discharged 25 days after lung transplantation.
Anesthesia ; Cardiac Tamponade ; Dermatomyositis ; Extracorporeal Membrane Oxygenation* ; Humans ; Lung Diseases, Interstitial ; Lung Transplantation* ; Mediastinal Emphysema* ; Middle Aged ; Pneumothorax ; Positive-Pressure Respiration ; Respiration, Artificial ; Subcutaneous Emphysema

BACKGROUND: The causes of exertional desaturation in patients with COPD can be multifactorial. We aimed to investigate factors predict exertional desaturation in patients with moderate to severe COPD. METHODS: We tested 51 consecutive patients with stable COPD (FEV1/FVC, 40+/-13% predicted). Patients performed a six minute walk test (6MWT). Pulse oxymetric saturation (SpO2) and pulse rate were recorded. RESULTS: Oxygen desaturation was found in 15 subjects after 6MWT, while 36 subjects were not desaturated. Lung diffusing capacity was significantly lower in desaturation (DS) group (62+/-18% predicted) compared with not desaturated (ND) group (84+/-20, p<0.01). However there was no statistical difference of FEV1/FVC ratio or residual volume between two groups. The pulse rate change was significantly higher in the desaturated compared with the not desaturated group. Six minute walking distance, subjective dyspnea scale, airflow obstruction, and residual volume did not predict exertional oxygen desaturation. Independent factors assessed by multiple logistic regression revealed that a pulse rate increment (odd ratio [OR], 1.19; 95% confidence interval [CI], 1.01~1.40; p=0.02), a decrease in baseline PaO2 (OR, 1.105; 95% CI, 1.003~1.218; p=0.04) and a decrease in lung diffusing capacity (OR, 1.10; 95% CI, 1.01~1.19; p=0.01) were significantly associated with oxygen desaturation. Receiver operator characteristic (ROC) analysis showed that an absolute increment in pulse rate of 16/min gave optimal discrimination between desaturated and not desaturated patients after 6MWT. CONCLUSION: Pulse rate increment and diffusion capacity can predict exertional oxygen desaturation in stable COPD patients with moderate to severe airflow obstruction.
Anoxia ; Diffusion ; Discrimination (Psychology) ; Dyspnea ; Heart Rate ; Humans ; Logistic Models ; Lung ; Oxygen ; Pulmonary Disease, Chronic Obstructive ; Residual Volume ; Walking