Fourteen cases of double chambered right ventricle were diagnosed angiographically and of these nine caseswere confirmed after operation and autopsy at Seoul National University Hospital in recent four years since 1979.The clinical and radiological findings with the emphasis on the cinecardiographic findings were analysed. Thesummaries of the analysis are as follows; 1. Among 14 cases, 6 cases were male and 8 cases were female. Agedistribution was from 4 years to 36 years. 2. In chest X-ray findings, pulmonary vascularity was increased in 8cases, decreased in 4 cases, and nomral in 2 cases. Cardiomegaly was observed in 8 cases and other showed normalheart size. 3. In cinecardiography, 11 cases had interventricular septal defect. Among these 11 cases, VSD locatedin proximal high pressusre chamber was in 2 cases and located in distal low presssure chamber was in 9 cases. 4.The location of aberrant muscle bundle in sinus portion of right ventricule was in 8 cases. In the rest cases, andaberrant muscle bundle was located below the infundibulum of right ventricle. 5. For accurate diagnosis anddifferential diagnosis with other congenital cardiac anomalies such as Tetralogy of Fallot or isolated pulmonicstenosis, biplane cineangiography and catheterization is an essential procedure.
Autopsy ; Cardiomegaly ; Catheterization ; Catheters ; Cineangiography ; Diagnosis ; Female ; Heart Ventricles ; Humans ; Male ; Pituitary Gland ; Seoul ; Tetralogy of Fallot ; Thorax

Background: Structural variants (SVs) are currently analyzed using a combination of conventional methods; however, this approach has limitations. Optical genome mapping (OGM), an emerging technology for detecting SVs using a single-molecule strategy, has the potential to replace conventional methods. We compared OGM with conventional diagnostic methods for detecting SVs in various hematologic malignancies. Methods: Residual bone marrow aspirates from 27 patients with hematologic malignancies in whom SVs were observed using conventional methods (chromosomal banding analysis, FISH, an RNA fusion panel, and reverse transcription PCR) were analyzed using OGM. The concordance between the OGM and conventional method results was evaluated. Results: OGM showed concordance in 63% (17/27) and partial concordance in 37% (10/27) of samples. OGM detected 76% (52/68) of the total SVs correctly (concordance rate for each type of SVs: aneuploidies, 83% [15/18]; balanced translocation, 80% [12/15] unbalanced translocation, 54% [7/13] deletions, 81% [13/16]; duplications, 100% [2/2] inversion 100% [1/1]; insertion, 100% [1/1]; marker chromosome, 0% [0/1];isochromosome, 100% [1/1]). Sixteen discordant results were attributed to the involvement of centromeric/telomeric regions, detection sensitivity, and a low mapping rate and coverage. OGM identified additional SVs, including submicroscopic SVs and novel fusions, in five cases. Conclusions OGM shows a high level of concordance with conventional diagnostic methods for the detection of SVs and can identify novel variants, suggesting its potential utility in enabling more comprehensive SV analysis in routine diagnostics of hematologic malignancies, although further studies and improvements are required.

No abstract available.
Allografts* ; Humans ; Ultrasonography*

AIMTo examine the changes in the erectile function in diet-induced obese rats and investigate the oral efficacy of DA-8159, a new phosphodiesterase type 5 (PDE5) inhibitor, on penile erection in obese rats.

METHODSThe rats were fed a high-energy diet for 12 weeks and divided into three groups: an obesity-resistant (OR) control group, an obesity-prone (OP) control group, and an OP-DA-8159 treatment (DA-8159) group. The electrostimulation-induced erectile responses were measured in all groups. The body weight, plasma cholesterol, triglyceride and glucose levels were also measured.

RESULTSIn the OP control group, the maximum intracavernous pressure (ICP) and ICP/blood pressure (ICP/BP) ratio after electric stimulation were significantly lower than those in OR control group. The corresponding area under the curve (AUC) of the ICP/BP ratio, the detumescence time and the baseline cavernous pressure were also lower than those in the OR control group, but this difference was not significant. The body weight gain, plasma cholesterol and triglyceride level in the OP group were significantly higher than those in the OR group. After administering the DA-8159, a significant increase in the maximum ICP and the ICP/BP ratio were observed. The corresponding AUCs in the DA-8159 group were also higher than those in the two control groups. Furthermore, the detumescence time was significantly prolonged after treatment with DA-8159.

CONCLUSIONThese results demonstrate that diet-induced obesity affects the erectile function in rats and these erectile dysfunction (ED) can be improved by the treatment with DA-8159, indicating DA-8159 might be a treatment option for ED associated with obesity.

Animal Feed ; Animals ; Diet ; Erectile Dysfunction ; etiology ; prevention & control ; Male ; Obesity ; etiology ; physiopathology ; Penile Erection ; drug effects ; physiology ; Phosphodiesterase Inhibitors ; pharmacology ; Pyrimidines ; pharmacology ; Rats ; Sulfonamides

BACKGROUND: Chronic urticaria is defined as repeated episodes of wheals lasting for 6 weeks or longer. Nowadays, the role of vitamin D in various chronic diseases is a matter of great interest, but limited data is available on the vitamin D status in patients with chronic urticaria. OBJECTIVE: The goal of this study was to investigate the relationship between vitamin D status and clinical characteristics of chronic urticaria. METHODS: The clinical records of 72 patients with chronic urticaria, 26 with acute urticaria and 26 with atopic dermatitis, along with 72 healthy controls, were retrospectively reviewed. RESULTS: The serum 25-(OH)D3 level was found to be significantly reduced in patients with chronic urticaria compared to those in the other groups. In particular, the proportion of patients with critically low vitamin D levels (<10 ng/ml) was significantly higher in the chronic urticaria group than in the other groups. The serum vitamin D levels showed significant negative associations with urticaria activity score and disease duration. In addition, serum vitamin D levels were significantly lower in subjects with a positive autologous serum skin test than in subjects with a negative result. CONCLUSION: In conclusion, the serum vitamin D level was more likely to be critically low in patients with chronic urticaria, and an inverse relationship with disease severity and disease duration was observed. These findings may open up the possibility of the clinical use of vitamin D as a contributing factor in the pathogenesis of chronic urticaria and a predictive marker for disease activity in chronic urticaria.
Chronic Disease ; Dermatitis, Atopic ; Humans ; Retrospective Studies ; Skin Tests ; Urticaria* ; Vitamin D* ; Vitamins*

No abstract available.
Erythema Nodosum* ; Erythema* ; Valproic Acid*

Background: The Jr a antigen is a high-prevalence red blood cell (RBC) antigen. Reports on cases of fatal hemolytic disease of the fetus and newborn and acute hemolytic transfusion reactions suggest that antibodies against Jr a (anti-Jra ) have potential clinical significance.Identifying anti-Jra is challenging owing to a lack of commercially available antisera. We developed an alternative approach to rapidly predict the presence of anti-Jra using the TaqMan single-nucleotide polymorphism (SNP)-genotyping method. Methods: Residual peripheral blood samples from 10 patients suspected of having the anti-Jr a were collected. Two samples with confirmed Jr(a–) RBCs and anti-Jra were used to validate the TaqMan genotyping assay by comparing the genotyping results with direct sequencing. The accuracy of the assay in predicting the presence of anti-Jra was verified through crossmatching with in-house Jr(a–) O+ RBCs. Results: The TaqMan-genotyping method was validated with two Jr(a–) RBC- and anti-Jra -confirmed samples that showed concordant Jr a genotyping and direct sequencing results.Jra genotyping for the remaining samples and crossmatching the serum samples with inhouse Jr(a–) O+ RBCs showed consistent results. Conclusions We validated a rapid, simple, accurate, and cost-effective method for predicting the presence of anti-Jra using a TaqMan-based SNP-genotyping assay. Implementing this method in routine practice in clinical laboratories will assist in solving difficult problems regarding alloantibodies to high-prevalence RBC antigens and ultimately aid in providing safe and timely transfusions and proper patient care.

Background: The Jr a antigen is a high-prevalence red blood cell (RBC) antigen. Reports on cases of fatal hemolytic disease of the fetus and newborn and acute hemolytic transfusion reactions suggest that antibodies against Jr a (anti-Jra ) have potential clinical significance.Identifying anti-Jra is challenging owing to a lack of commercially available antisera. We developed an alternative approach to rapidly predict the presence of anti-Jra using the TaqMan single-nucleotide polymorphism (SNP)-genotyping method. Methods: Residual peripheral blood samples from 10 patients suspected of having the anti-Jr a were collected. Two samples with confirmed Jr(a–) RBCs and anti-Jra were used to validate the TaqMan genotyping assay by comparing the genotyping results with direct sequencing. The accuracy of the assay in predicting the presence of anti-Jra was verified through crossmatching with in-house Jr(a–) O+ RBCs. Results: The TaqMan-genotyping method was validated with two Jr(a–) RBC- and anti-Jra -confirmed samples that showed concordant Jr a genotyping and direct sequencing results.Jra genotyping for the remaining samples and crossmatching the serum samples with inhouse Jr(a–) O+ RBCs showed consistent results. Conclusions We validated a rapid, simple, accurate, and cost-effective method for predicting the presence of anti-Jra using a TaqMan-based SNP-genotyping assay. Implementing this method in routine practice in clinical laboratories will assist in solving difficult problems regarding alloantibodies to high-prevalence RBC antigens and ultimately aid in providing safe and timely transfusions and proper patient care.