• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.2
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• pp.63-68
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• 2017

Gaucher disease (GD) is caused by the deficiency of glucocerebrosidase. In pediatric patients with GD, especially Type I GD, enzyme replacement therapy (ERT) can reduce the hepatosplenomegaly and improve the hematologic finding and growth velocity. Herein, we report a 2-year-old girl with Type I GD presented with hepatosplenomegaly, bone pain and growth retardation. A 2 year-old-girl was referred to our hospital due to severe hepatosplenomegaly and growth retardation. She suffered from both leg pain and chronic fatigue. Simple x-ray showed widened distal long bones like that of an 'Erlenmeyer flask' which is associated with GD. The laboratory test showed anemia and thrombocytopenia. The enzyme activity was markedly reduced and the direct sequencing of the GBA gene showed the compound heterozygous mutations, p.G46E and p.L444P. As the G46E have been considered as the protective gene against neuronopathic genotype, we could assess the Type I GD in this patient. After one year of ERT, the growth velocity became 11 cm per year. Bone pain and fatigue disappeared. The volume of liver and spleen was reduced from $683cm^3$ and $703cm^3$ to $590cm^3$ and $235cm^3$, respectively. Although GD is an extremely rare disease in Korea, growth retardation and bone pain in children are the important signs which lead to early detection of GD and a simple radiologic finding is helpful to assess the GD at outpatient clinic. We highlight that the early diagnosis and early ERT is important for good growth and outcome for pediatric patients with GD.

• Tuberculosis and Respiratory Diseases
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• v.72 no.3
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• pp.284-292
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• 2012

Background: The aim of this study was to investigate therapeutic outcomes and assess factors associated with therapeutic outcomes in hematologic patients with invasive pulmonary aspergillosis (IPA). Methods: We analyzed all consecutive cases of IPA in adults with hematologic diseases from January 2008 to January 2009 at a Catholic Hematopoietic Stem Cell Transplantation (HSCT) Center in Seoul, Korea. Results: A total of 54 patients were identified. Underlying diseases were acute myelogenous leukemia (n=25), acute lymphoblastic leukemia (n=10), myelodysplastic syndrome (n=7), chronic myelogenous leukemia (n=3), multiple myeloma (n=3), severe aplastic anemia (n=2) and other hematologic diseases (n=4). Twenty six patients (48.2%) were assessed as having a favorable response, of which 16 patients (29.6%) showed complete response. Overall 12-week mortality and IPA attributable mortality were 38.9% (n=21) and 33.3% (n=18), respectively. In multivariate analysis, uncontrolled underlying disease (odds ratio [OR], 7.31; 95% confidence interval [CI], 1.49~35.94; p=0.014) was associated with an unfavorable response, and for 12-week mortality, uncontrolled underlying disease (OR, 11.79; 95% CI, 1.49~93.46; p=0.020) and hypoalbuminemia (OR, 9.89; 95% CI, 1.42~68.99; p=0.021) were significantly poor prognostic factors. Conclusion: IPA still remains as a poor therapeutic outcome, especially in patients with refractory hematologic diseases.

• Parasites, Hosts and Diseases
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• v.30 no.3
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• pp.177-182
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• 1992

Levels of platelets and other hematological values were monitored in 21 Saimiri and 12 Aotus monkeys over a period of three weeks post·infection with monkey·adapted Indochina CDC-1 strain of Plasmedium falciparum. In both Snlinoiri sciureus boliviensis and Aetus nancymai karyotype-1 monkeys the severest thrombocytopenia was observed at 14 days post-infection coinciding with peak parasitemia, neutropenia, Iynlphocytosis, and anemia associated with severe hemoglobinemia and elevated fibrinogen degeneration products(FDP's), MCH and MCV profiles in Aotus monkeys decreased with ascending parasitemia. In contrast, these parameters in Saimiri were characterized by a significant compensatory increase correlating with parasitemia. In general, thrombocytopenia was one of the earliest clinical manifestations of the infection with the platelets returning to normal levels shortly after peak parasitenlia at 14 days. Platelet kinetics had a strong correlation with hematologic and parasitologic values in the Aotus nlodel. No consistent associations were observed between platelet kinetics and other parameters in the Saimiri model. These data indicate that the Aotus model for malaria is more predictable than the Saimiri. Further, platelet turnover rates and recovery provide a useful prognostic parameter during malaria infection. The results are discussed in relation to the value of the two species of monkeys as models for the pathogenesis of human malaria.

• Clinical and Experimental Pediatrics
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• v.52 no.9
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• pp.1053-1058
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• 2009

Cytomegalovirus (CMV) is one of the most commonly encountered viral pathogens in newborn infants and is found in 0.3-2.4% of all live births. It has been demonstrated that 40-96% of seropositive mothers shed the virus via their breast milk. Breast milk containing CMV can cause almost one-third of CMV infections occurring in infants. A case of postnatal CMV infection in an extremely premature infant (gestational age $24^{+5}$ weeks, birth weight 750 g) transmitted via breast milk is presented. For neonatal intensive care unit (NICU) management of severe thrombocytopenia, anemia, and sepsis syndrome, the infant received repeated transfusions of platelets; intravenous (IV) immunoglobulins; and gamma- irradiated, filtrated packed red cells and was fed her mother's breast milk since the second week of life. CMV infection was diagnosed with positive CMV immunoglobulin M (IgM) and positive urine CMV culture at the second month of life. Considering the negative CMV IgM and urine CMV culture at birth, postnatally-acquired CMV infection was suspected and confirmed with completely identical nucleotide sequence alignments of the infantile blood isolate and the maternal breast milk isolate. To our knowledge, this is the first case of proven postnatal CMV infection transmitted via breast milk in an extremely premature infant in Korea.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.17
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• pp.8009-8013
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• 2015

Background: Orthotopic organ transplantation, a treatment option for irreversible organ dysfunction according to organ failure, severe damaged organ or malignancy in situ, was usually accompanied with massive blood loss thus transfusion was required. We aimed to evaluate the adverse impact of blood transfusion on solid organ transplantation. Materials and Methods: From January, 2009 to December, 2014, patients who received orthotopic organ transplantation at Far Eastern Memorial Hospital medical center were enrolled. Clinical data regarding anemia status and red blood cell (RBC) transfusion before, during and after operation, as well as patient outcomes were collected for further univariate analysis. Results: A total of 105 patients who underwent orthotopic transplantation, including liver, kidney and small intestine were registered. The mean hemoglobin (Hb) level upon admission and before operation were $11.6{\pm}1.8g/dL$ and $11.7{\pm}1.7g/dL$, respectively; and the nadir Hb level post operation and the final Hb level before discharge were $8.3{\pm}1.6g/dL$ and $10.2{\pm}1.6g/dL$, respectively. The median units (interquartile range) of RBC transfusion in pre-operative, peri-operative and post-operative periods were 0 (0-0), 2 (0-12), and 2 (0-6) units, respectively. Furthermore, the median (interquartile range) length of hospital stay (LHS) from admission to discharge and from operation to discharge were 28 (17-44) and 24 (16-37) days, respectively. Both peri-operative and post-operative RBC transfusion were associated with longer LHS from admission to discharge and from operation to discharge. Furthermore, it increased the risk of post-operative septicemia. While peri-operative RBC transfusion elevated the risk of acute graft rejection in patients who received orthotopic transplantation. Conclusions: Worse outcome could be anticipated in those who had received massive RBC transfusion in transplantation operation. Hence, peri-operative RBC transfusion should be avoided as much as possible.

• The Korean Journal of Nuclear Medicine Technology
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• v.12 no.1
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• pp.62-65
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• 2008

Purpose: Vitamin $B_{12}$ and folic acid are type of water-soluble vitamin and those work as a secondary vital enzyme, but especially those are involved in the nuclear DNA synthesis. Those are mainly measured in order to diagnose megaloblastic anemia and to assess the storage of folic acid during pregnancy. It is generally known that the hemolyzed serum is useless for folic acid and vitamin $B_{12}$, but it is not easy to abide by this information because our lab (Samkwang Medical Laboratories) is reference laboratory. We tested how much the extent of hemolyzed serum had influence on the results. Materials and Method: We performed the tests of vitamin $B_{12}$, folic acid. For the hemolysis effect study, we used 40 cases. According to the level of A, B and C groups, each group had 10 samples which were mechanically hemolyzed serum. Results: Hemolysis did not affect the vitamin $B_{12}$ results. However in case of folic acid, the value increased according to the degree of hemolysis. And severe hemolyzed cases had the highest value (greater than 20 ng/ml). Conclusions: Preventing the hemolysis, it has to be informed that blood-collecting, separation and storage are performed more carefully. As you see from the above results, hemolyzed serum is not proper for folic acid test, and hemolysis does not affect the results of vitamin $B_{12}$. However, for the more accurate results, it is necessary to avoid hemolysis.

• Korean Journal of Head & Neck Oncology
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• v.27 no.1
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• pp.47-53
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• 2011

Purpose : Concurrent chemoradiotherapy(CCRT) with 3 weekly cisplatin is the standard treatment of locally advanced head and neck cancer(HNC). The aim is to evaluate the efficacy and toxicities of low-dose weekly cisplatin-based CCRT, which was devised to reduce the toxicity of CCRT. Method : We retrospectively analyzed HNC patients who received low-dose weekly cisplatin-based CCRT between 2008 and 2010. Cisplatin 35mg/$m^2$ was weekly given to all patients during radiotherapy. The efficacy was evaluated by the degree of clinical response, treatment failure and survival. The toxicity was evaluated by hematologic toxicities and oral mucositis. Results : A total of 27 patients were analyzed and median age was 59(range 31-81). The ratio of administered dose of radiotherapy and cisplatin to planned dose were 0.98 and 0.93, respectively. Complete remission and partial remission were 73% and 23%, respectively. Treatment failure was observed in 8(30%) patients. 1-year survival rate and 1-year disease free survival rate were 82% and 59%, respectively. Overall survival and progression-free survival did not reach median time. Grade 3/4 anemia, neutropenia, thrombocytopenia and oral mucositis were observed in 11%, 19%, 7% and 32% of patients, respectively. In terms of administered cycles, however, only 1-3% of grade 3/4 hematologic toxicities occurred among total 190 cycles. Severe oral mucositis were statistically associated with old age(p=0.003). Treatment failure had no statistical relation with age, pathology, primary site and stage. Conclusion : Low-dose weekly cisplatin-based CCRT seemed to deliver enough dose of cisplatin and to show low drop-out rate and good efficacy with low hematologic toxicities.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.9-17
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• 2015

Glycogen storage disease (GSD) type Ia is rare inborn metabolic disorder, caused by glucose-6-phosphatase deficiency. It characterized by hepatomegaly, hypoglycemia, lactic acidosis, hypertriglyceridemia, and hyperuricemia and it is usually manifested in the infantile period. In addition, it is also associated with growth failure, pubertal delay, anemia, platelet dysfunction, osteopenia, and pulmonary hypertension. Hepatocellular adenoma and renal dysfunction are frequent late complications. Delayed diagnosis and inappropriate therapy lead to many complications such as growth failure, osteoporosis, refractory gout, renal failure, hepatocellular carcinoma (HCC), and pulmonary hypertension. Here, two Korean sisters diagnosed with GSD Ia, aged 33 and 36 respectively, were described and compared to recent articles about four adults with late diagnosis of GSD Ia. One sister had typical manifestations of GSD Ia including short stature (height, 145 cm), multiple hepatic adenoma, chronic kidney disease stage IV, and severe osteoporosis, whereas the older sister had normal stature (162 cm), one tiny hepatic nodule, and normal renal function. Direct sequencing of G6PC in two sisters identified a homozygous splicing mutation, c.645G>T, which is a prevalent mutation in Korea. Interestingly, our cases and four adults from recent reports had asymptomatic mild hypoglycemia and various manifestations including renal failure, HCC, fatty liver, or uncontrolled hyperlipidemia. These adult cases represent not only heterogenous phenotype to genotype within family members with GSD Ia but also long-term complications such as gouty arthritis, renal failure, and osteoporosis in untreated adult GSD Ia patients. In addition, lactic academia and hypertriglyceridemia are good markers of GSD Ia to distinguish from metabolic disease.

• Analytical Science and Technology
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• v.23 no.6
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• pp.524-530
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• 2010

Chloramphenicol is one of the most effective antibiotics for treatment of food-producing animals for typhoid fever. However, it has been reported that it caused severe side effects such as aplastic anemia in human, therefore the use of chloramphenicol for food-producing animal is prohibited by European Union and other countries. In this study, the analytical method using isotope dilution liquid chromatography-mass spectrometry (ID-LC/MS) was established for accurate determination of chloramphenicol in meat. Chloramphenicol was extracted with ethylacetate from porcine and solid phase extraction cartridge was used for enhancing the recovery. The residue of chloramphenicol in porcine was analyzed using the liquid chromatography mass spectrometer (LC/MS) interfaced with electrospray ionization source. Analysis was performed in negative mode with selected reaction mornitoring mode at m/z 321${\rightarrow}$257 of $[M-H]^-$ ${\rightarrow}$ $[M-H-(HCOCl)]^-$ and m/z 326 ${\rightarrow}$ 262 channels for its isotope. The established method was tested using fortified samples at the level of 0.2 1, 10, $25\;{\mu}g$/kg and analytical results agreed with the gravimetrically fortified values within their uncertainties. This method was validated by analyzing a certified reference material, BCR 445, from IRMM (Institute for Reference Materials and Measurement). Our measurement values agreed with the certified value within their uncertainties. The uncertainty of our measured value was much lower than that the certified value from IRMM.

• Journal of Veterinary Clinics
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• v.24 no.2
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• pp.269-275
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• 2007

Two dogs referred to Veterinary Medical Center, Chungbuk National University diagnosed as multiple extrahepatic portosystemic shunt were reported. The first dog was a 20-month-old, 8 kg, male Cocker spaniel with history of peritoneal effusion, diarrhea, anorexia and stunted growth. The second dog was a 3-year-old, 13.4 kg, male Jindo with a history of severe depression. Hematologic examination of first dog revealed mild microcytosis and nonregenerative anemia. All of 2 cases, serum chemical values showed increase of serum ammonia, ALP, r-GTP and glucose. In survey radiography, microhepatia was apparent. In the color Doppler ultrasonographic examination, the first dog revealed a dilated tortuous vein communicating with caudal vena cava was observed near the left kidney and the second dog revealed numerous shunting vessels ventral to L5 and L6. Transcolonic portal scintigraphy of the first dog confirmed the presence of portosystemic shunt. In intraoperative jejunoportography, the first dog showed single congenital extrahepatic portosystemic shunt and multiple acquired extrahepatic portosystemic shunts. The second dog showed multiple acquired extrahepatic portosystemic shunts. In these dogs, the presence of congenital and acquried portosystemic shunts and histopathologic findings were considered to represent a combination of multiple extrahepatic portosystemic shunts and noncirrhotic portal hypertension or portal vein hypoplasia.