• Journal of Genetic Medicine
• /
• v.15 no.1
• /
• pp.13-16
• /
• 2018

X-linked juvenile retinoschisis (XLRS) is characterized by the progressive loss of visual acuity and vitreous hemorrhage. XLRS is caused by a mutation of retinoschisin 1 (RS1) gene at Xp22.13. In the current report, a 2-year-old Korean patient with XLRS was described. The germline deletion of exon 1 was identified in the RS1 gene. Considering X-linked inheritance pattern, validation of a carrier state of a patient's mother is important for the genetic counseling of other family members and for the future reproductive plan. To confirm the carrier state of his mother, the multiplex ligation-dependent probe amplification analysis was done using peripheral leukocytes and found the heterozygous deletion of exon 1 in his mother.

• Tuberculosis and Respiratory Diseases
• /
• v.48 no.6
• /
• pp.964-972
• /
• 2000

We report three patients with pulmonary hypertension in Takayasu's arteritis, who showed long-term favorable response, clinically and hemodynamically, to the nitric oxide donor, molsidomine. In these patients, the inhaled nitric oxide was effective in reducing pulmonary artery pressure (PAP) and pulmonary vascular resistance (PVR) as was shown in the acute vasodilator response test using the invasive hemodynamic monitoring. Molsidomine (single oral dose of 4 mg) was also effective in reducing PAP and PVR in the acute test, but nifedipine was not. With 4 mg of molsidomine three times daily, their dyspnea, exercise capacity and hemodynamic parameters were improved. These favorable responses have lasted during the 1st and 3rd month follow-up in all patients.

• Tuberculosis and Respiratory Diseases
• /
• v.46 no.3
• /
• pp.420-425
• /
• 1999

We report a case of hepatopulmonary syndrome defined as a triad of chronic liver disease, increased alveolar oxygen gradient on room air, and intrapulmonary arteriovenous shunting. Chest rediographs showed bilateral, basilar, medium sized reticulonodular opacities. High resolution CT scand showed multiple centrilobular nodules and branching structures in the subpleural lung that suggested dilatation of lung vessels with abnormally large number of visible terminal branches. $^{99m}Tc$-macroaggregated albumin(MAA) perfusion lung scan showed right to left shunt. Contrast echocardiography demonstrated intrapulmonary vascular shunt without intracardiac shunt.

• Tuberculosis and Respiratory Diseases
• /
• v.57 no.1
• /
• pp.61-65
• /
• 2004

Even though nocardiosis is one of opportunistic infections, and can occur in Cushing's syndrome, it rarely occurs in patients with Cushing's disease. Herein, a case with Cushing's disease in whom nocardiosis had manifested as a pulmonary lesion, which after percutaneous needle aspiration, empyema and a breast abscess were also noted.

• Journal of Korean Clinical Nursing Research
• /
• v.17 no.2
• /
• pp.275-285
• /
• 2011

Purpose: Head-up position during sleep is one of the non-pharmacologic interventions for the treatment of orthostatic hypotension. Because the head-up position causes discomfort in many patients, this approach may not be acceptable to all patients. We compared the systolic blood pressure in erect position, orthostatic hypotension, orthostatic disability score, and the improvement rates of orthostatic hypotension between the 20 cm head-up group and the 10 cm head-up group. Methods: A control pre/post-test design was used. Between August 1, 2009 and November 15, 2010, we consecutively enrolled patients who showed orthostatic hypotension in patients with Parkinsonian disorders. Sixty-seven patients were prospectively enrolled and forty-four patients were completed the study. Results: There were no statistically significant differences found in the systolic blood pressure in erect position, orthostatic hypotension, and orthostatic disability scores between the two groups. However, five patients showed improvement in 20 cm head-up group and one patient was showed improvement in 10 cm head-up Group. Conclusion: Orthostatic hypotension is decreased with 20 cm head-up position in some patients with Parkinsonian disorders (p=.034). Further research investigating the relationships between orthostatic hypotension and head-up position are warranted.

• BMB Reports
• /
• v.52 no.2
• /
• pp.145-150
• /
• 2019

Endothelial dysfunction-induced lipid retention is an early feature of atherosclerotic lesion formation. Apoptosis of vascular smooth muscle cells (VSMCs) is one of the major modulating factors of atherogenesis, which accelerates atherosclerosis progression by causing plaque destabilization and rupture. However, the mechanism underlying VSMC apoptosis mediated by endothelial dysfunction in relation to atherosclerosis remains elusive. In this study, we reveal differential expression of several genes related to lipid retention and apoptosis, in conjunction with atherosclerosis, by utilizing a genetic mouse model of endothelial nitric oxide synthase (eNOS) deficiency manifesting endothelial dysfunction. Moreover, eNOS deficiency led to the enhanced susceptibility against pro-apoptotic insult in VSMCs. In particular, the expression of aggrecan, a major proteoglycan, was elevated in aortic tissue of eNOS deficient mice compared to wild type mice, and administration of aggrecan induced apoptosis in VSMCs. This suggests that eNOS deficiency may elevate aggrecan expression, which promotes apoptosis in VSMC, thereby contributing to atherosclerosis progression. These results may facilitate the development of novel approaches for improving the diagnosis or treatment of atherosclerosis.

• Journal of Chest Surgery
• /
• v.52 no.2
• /
• pp.61-69
• /
• 2019

Background: Scarce data have been reported on the efficacy of concomitant atrial fibrillation (AF) ablation in patients undergoing bioprosthetic valve replacement. Methods: From 2001 and 2014, 146 consecutive patients ($69.3{\pm}9.4years$, 84 females) who underwent bioprosthetic heart valve replacement concomitant with AF ablation were assessed. We evaluated long-term rhythm and valve-related outcomes. Results: During 49.1 months of follow-up (interquartile range, 22.5-96.8 months), 7 in-hospital and 49 (6.7% per person-year) post-discharge deaths occurred. The thromboembolic event-free survival rate at 5 years was $79.2%{\pm}3.5%$. The freedom from AF recurrence rate at 5 years was $59.8%{\pm}4.9%$. Multivariate analysis showed that old age (hazard ratio [HR], 1.06; 95% confidence interval [CI], 1.02-1.11; p=0.002), previous cardiac operation (HR, 3.01; 95% CI, 1.22-7.43; p=0.02), and a large left atrial (LA) dimension (HR, 1.02; 95% CI, 1.00-1.05; p=0.045) were significantly associated with AF recurrence. Conclusion: The overall long-term clinical outcomes in these predominantly elderly patients undergoing AF ablation concomitantly with bioprosthetic valve replacement were satisfactory; however, AF recurrence was frequent. Older age, a history of prior cardiac surgery, and large LA size were associated with an increased risk of AF recurrence.

• Perinatology
• /
• v.29 no.4
• /
• pp.189-194
• /
• 2018

Congenital neuroblastoma is a rare disease. Placental metastasis is extremely rare and poor prognosis has been reported in neonates. Mirror syndrome could occur in mother with placental metastasis with possibilities of hypertension and edema. We report a case of detection of left suprarenal mass in fetus at $31^{+5}weeks^{\prime}$ gestation. Mother presented with palpitation, edema, headache, and hypertension. Maternal 24 hours urine vanillylmandelic acid (VMA) and normetanephrine (NME) level at 34 weeks' gestation were elevated. Consequently, emergent cesarean section was done. Based on abdominal ultrasonography and whole body magnetic resonance imaging, left adrenal tumor with liver metastasis was suspected. Neuroblastoma was confirmed by liver and placenta biopsy. Chemotherapy was started with Pediatric Oncology Group 9243 at day 7 and changed into Children's Oncology Group 3961 due to cholestasis and poor response during 2nd cycle. Plasma exchange was done for aggravated direct hyperbilirubinemia. The baby expired at 73 days due to multi-organ failure. Maternal symptoms were completely resolved in 2 weeks after delivery along with normalization of the elevated level of VMA and NME. We report a first case of mirror syndrome in Korean mother and fetus resulting from metastatic congenital neuroblastoma to placenta.

• Korean Journal of Radiology
• /
• v.25 no.3
• /
• pp.224-242
• /
• 2024

The emergence of Chat Generative Pre-trained Transformer (ChatGPT), a chatbot developed by OpenAI, has garnered interest in the application of generative artificial intelligence (AI) models in the medical field. This review summarizes different generative AI models and their potential applications in the field of medicine and explores the evolving landscape of Generative Adversarial Networks and diffusion models since the introduction of generative AI models. These models have made valuable contributions to the field of radiology. Furthermore, this review also explores the significance of synthetic data in addressing privacy concerns and augmenting data diversity and quality within the medical domain, in addition to emphasizing the role of inversion in the investigation of generative models and outlining an approach to replicate this process. We provide an overview of Large Language Models, such as GPTs and bidirectional encoder representations (BERTs), that focus on prominent representatives and discuss recent initiatives involving language-vision models in radiology, including innovative large language and vision assistant for biomedicine (LLaVa-Med), to illustrate their practical application. This comprehensive review offers insights into the wide-ranging applications of generative AI models in clinical research and emphasizes their transformative potential.

• Korean Journal of Radiology
• /
• v.1 no.1
• /
• pp.43-50
• /
• 2000

Objective: To evaluate the usefulness of MR imaging for diseases of the small intestine, emphasizing a comparison with CT. Materials and Methods: Thirty-four patients who underwent both CT and MR imaging using FLASH 2D and HASTE sequences were analyzed. All patients had various small bowel diseases with variable association of peritoneal lesions. We compared the detectabilities of CT and MR imaging using different MR pulse sequences. The capability for analyzing the characteristics of small intestinal disease was also compared. Results: MR imaging was nearly equal to CT for detecting intraluminal or peritoneal masses, lesions in the bowel and mesentery, and small bowel obstruction, but was definitely inferior for detecting omental lesions. The most successful MR imaging sequence was HASTE for demonstrating bowel wall thickening, coronal FLASH 2D for mesenteric lesions, and axial FLASH 2D for omental lesions. MR imaging yielded greater information than CT in six of 12 inflammatory bowel diseases, while it was equal to CT in six of seven neoplasms and inferior in five of seven mesenteric ischemia. In determining the primary causes of 15 intestinal obstructions, MR imaging was correct in 11 (73%) and CT in nine (60%) patients. Conclusion: MR imaging can serve as an alternative diagnostic tool for patients with suspected inflammatory bowel disease, small intestinal neoplasm or obstruction.