Single Cavernous Hemangioma of the Small Bowel Diagnosed by Using Capsule Endoscopy in a Child with Chronic Iron-Deficiency Anemia

Cavernous hemangiomas of the gastrointestinal tract are extremely rare. In particular, the diagnosis of small bowel hemangiomas is very difficult in children. A 13-year-old boy presented at the outpatient clinic with dizziness and fatigue. The patient was previously diagnosed with iron-deficiency anemia at 3 years of age and had been treated with iron supplements continuously and pure red cell transfusion intermittently. Laboratory tests indicated that the patient currently had iron-deficiency anemia. There was no evidence of gross bleeding, such as hematemesis or bloody stool. Laboratory findings indicated no bleeding tendency. Gastroduodenoscopy and colonoscopy results were negative. To obtain a definitive diagnosis, the patient underwent capsule endoscopy. A purplish stalked mass was found in the jejunum, and the mass was excised successfully. We report of a 13-year-old boy who presented with severe and recurrent iron-deficiency anemia caused by a cavernous hemangioma in the small bowel without symptoms of gastrointestinal bleeding.

Iron Overload during Follow-up after Tandem High-Dose Chemotherapy and Autologous Stem Cell Transplantation in Patients with High-Risk Neuroblastoma

Multiple RBC transfusions inevitably lead to a state of iron overload before and after high-dose chemotherapy and autologous stem cell transplantation (HDCT/autoSCT). Nonetheless, iron status during post-SCT follow-up remains unknown. Therefore, we investigated post-SCT ferritin levels, factors contributing to its sustained levels, and organ functions affected by iron overload in 49 children with high-risk neuroblastoma who underwent tandem HDCT/autoSCT. Although serum ferritin levels gradually decreased during post-SCT follow-up, 47.7% of the patients maintained ferritin levels above 1,000 ng/mL at 1 yr after the second HDCT/autoSCT. These patients had higher serum creatinine (0.62 vs 0.47 mg/mL, P = 0.007) than their counterparts (< 1,000 ng/mL). Post-SCT transfusion amount corresponded to increased ferritin levels at 1 yr after the second HDCT/autoSCT (P < 0.001). A lower CD34+ cell count was associated with a greater need of RBC transfusion, which in turn led to a higher serum ferritin level at 1 yr after HDCT/autoSCT. The number of CD34+ cells transplanted was an independent factor for ferritin levels at 1 yr after the second HDCT/autoSCT (P = 0.019). Consequently, CD34+ cells should be transplanted as many as possible to prevent the sustained iron overload after tandem HDCT/autoSCT and consequent adverse effects.

Iron Overload during Follow-up after Tandem High-Dose Chemotherapy and Autologous Stem Cell Transplantation in Patients with High-Risk Neuroblastoma

Multiple RBC transfusions inevitably lead to a state of iron overload before and after high-dose chemotherapy and autologous stem cell transplantation (HDCT/autoSCT). Nonetheless, iron status during post-SCT follow-up remains unknown. Therefore, we investigated post-SCT ferritin levels, factors contributing to its sustained levels, and organ functions affected by iron overload in 49 children with high-risk neuroblastoma who underwent tandem HDCT/autoSCT. Although serum ferritin levels gradually decreased during post-SCT follow-up, 47.7% of the patients maintained ferritin levels above 1,000 ng/mL at 1 yr after the second HDCT/autoSCT. These patients had higher serum creatinine (0.62 vs 0.47 mg/mL, P = 0.007) than their counterparts (< 1,000 ng/mL). Post-SCT transfusion amount corresponded to increased ferritin levels at 1 yr after the second HDCT/autoSCT (P < 0.001). A lower CD34+ cell count was associated with a greater need of RBC transfusion, which in turn led to a higher serum ferritin level at 1 yr after HDCT/autoSCT. The number of CD34+ cells transplanted was an independent factor for ferritin levels at 1 yr after the second HDCT/autoSCT (P = 0.019). Consequently, CD34+ cells should be transplanted as many as possible to prevent the sustained iron overload after tandem HDCT/autoSCT and consequent adverse effects.

The Clinical Usefulness of Portable Digital Skin Fluorescence Equipment in Acne Patients / 대한피부과학회지

BACKGROUND: Propionibacterium acnes (P. acnes) is a gram positive anaerobic bacteria which plays a key role in the development of acne. Therefore, culture of P. acnes from the acne lesion can serve as an important clinical tool for selecting antibiotics and judging the therapeutic response. However the conventional cultural method is not easy to perform in clinical settings. OBJECTIVE: The aim of this study was to investigate the clinical application of portable digital skin fluorescence imaging equipment in patients with acne. METHODS: Total of 60 objects (33 males and 27 females) with facial acne were recruited. To estimate fluorescence color and size according to the acne lesion, digital fluorescence images were taken and analyzed with image analysis program. Also, we examined the species and the quantification of bacteria aerobically and anaerobically isolated from each kind of acne lesion. RESULTS: Among the bacteria cultured, coagulase negative staphylococci (CNS) was the most common (57.7%), followed by P. acnes (46.1%). Noninflammatory lesions (comedones) showed statistically significant correlation with red fluorescence and inflammatory lesions (papules and pustules) with green fluorescence (p=0.004). The density of CNS and P. acnes were also significantly associated with fluorescence size (p=0.014, p=0.005). However, there was no statistical association between the strains of bacteria and the color of fluorescence (p=0.192). CONCLUSION: Since the size of fluorescence correlates well with P. acnes levels, we found the noninvasive technique of portable digital skin fluorescence imaging equipment to be useful in choosing adequate antibiotics and monitoring antibiotic therapy in acne vulgaris.

An Insertion/Deletion Polymorphism in the alpha(2B)-Adrenoceptor Gene is not a Genetic Risk Factor for Coronary Artery Disease in the Korean Population

BACKGROUND AND OBJECTIVES: Cardiovascular disease (CVD) is a complex multigenic disorder, with significant inheritable elements having important roles relating to environmental factors. Recently, the alpha 2 adrenoceptor (alpha(2)-AR) gene has been reported to be involved in the development of coronary artery disease (CAD). The aim of this study was to investigate the relationships between an insertion/deletion (I/D) in alpha(2B)-AR and CAD in Korean subjects. SUBJECTS AND METHODS: The alpha(2B)-AR I/D polymorphism, which was located in the third intracellular loop of the receptor polypeptide, was examined in 292 patients (M:F=219:73) with CAD and 151 healthy control subjects (M:F=70:81) who visited the Cardiovascular Genome Center in Yonsei Cardiovascular Hospital. RESULTS: In the patient group, 77 men (35.1%) and 26 women (35.6%) had the I/I genotype; 105 men (47.9%) and 39 women (53.4%) a heterozygous genotype and 37 (17.0%) and 8 (11.0%) the D/D genotype. In the controls, 23 men (32.8%) and 29 women (35.8%) had the I/I genotype; 38 (54.3%) and 39 (48.1%) the I/D genotype and 9 (12.9%) and 13 (16.1%) the D/D genotype. There were no differences in the genotype frequencies between the patient and control groups, either in men or women. From a logistical regression analysis, the alpha(2B)-AR genotype was not significantly associated with CAD in our study group. CONCLUSION: The alpha(2B)-AR I/D polymorphism is not a risk factor for CAD in the Korean population.

Prothrombin T165M and the Factor V R485K Polymorphism are Associated with an Increase Risk of Coronary Artery Disease in Koreans

BACKGROUND AND OBJECTIVES: An increased coagulation activity and an impaired antithrombotic function are associated with coronary artery disease (CAD). The purpose of this study was to evaluate whether the genetic variations in the prothrombin and factor V genes are associated with CAD. SUBJECTS AND METHODS: One hundred twenty eight patients having CAD and 168 healthy controls participated in this study. 98 of the CAD patients, who were not taking anticoagulant drugs, and 132 controls were analyzed for their prothrombin (PT) and factor V (FV) coagulant activity. The genotype was determined by the SNP-IT method. RESULTS: The genetic variation for the PT G2210A and FV R506Q (Leiden) was not detected in our standard samples. The genotype frequency of the T165M polymorphism in the PT gene of the CAD were not different from those of the control group. However, logistic regression analysis showed that 165MM genotype of the PT 165M polymorphism is associated with CAD independently (Odds ratio 1.82, 95% confidence interval; 1.04-3.16). Subjects with 165MM homozygote had higher PT activity than those with the 165T carrier in the both groups (p<0.05). The prevalence of the RR+RK genotype in the factor V R485K polymorphism was significantly higher in CAD group than in the control group (92% in CAD vs. 82% in control, p=0.012). From the multivariate analysis, the odds ratio of the 485K carrier was 2.48 for CAD (95% confidence interval: 1.87-5.66), in relation to the control subjects. No significant influence was seen of the factor V R485K polymorphism on corresponding mean factor V activity in control group. CONCLUSION: The PT 165MM genotype was linked with elevated levels of PT activity. The PT T165M and FV R485K polymorphisms were associated with CAD in Koreans.

Association of Cholesteryl Ester Transfer Protein Gene Polymorphism with Serum Lipid Concentration and Coronary Artery Disease in Korean Men

BACKGROUND AND OBJECTIVES: Cholesteryl ester transfer protein (CETP) plays a key role in the reverse cholesterol transport pathway. The purpose of this study was to investigate the association of CETP gene polymorphism with the plasma lipid levels and coronary artery disease (CAD) in Korean men. SUBJECTS AND METHODS: Two hundred and sixteen healthy control subjects (46.8+/-10.6 y) and 95 patients with CAD (58.2+/-8.8 y) were examined. The genotypes of C-629A, Taq1B and I405V were determined by the SNP-IT assay. RESULTS: The allele frequencies of the C:A in the C-629A, B1:B2 in the Taq1B and I:V in the I405V in the control group were 0.51:0.49, 0.63:0.37 and 0.55:0.45, respectively. The genotype distributions of the C-629 A and Taq1B polymorphisms in the CAD patients did not differ from those in the control group. No variation in the CETP genotype was associated with disease progression in the CAD group. The HDL cholesterol in -629A homozygous and Taq1B B2 homozygous were higher than those of the other genotypes. The Taq1B B2 carrier was an independent determinant for HDL cholesterol in the control group. However, I405V polymorphism was not associated with HDL cholesterol. The V allele in the I405V polymorphism was associated with reduced CAD events after controlling the age, BMI and other risk factors (OR:0.4, p<0.01). CONCLUSION: The frequencies of Taq1B and C-629A variants between the healthy and CAD groups did not differ. The B2 carrier in the Taq1B polymorphism was associated with a higher HDL cholesterol concentration. The V variation in the I405V polymorphism had a protective effect against the development of CAD in Korean men.