• Journal of the Korean Society of Radiology
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• v.81 no.3
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• pp.530-548
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• 2020

Thyroid radiology practice is a medical practice in which thyroid diseases are diagnosed using imaging modality and treated by imaging-based interventional techniques, and the primary care target is thyroid nodular disease. Diagnosis of thyroid nodules is primarily done by ultrasound imaging and biopsy; thyroid nodules can be treated by non-surgical interventional treatment and thyroidectomy. Ethanol ablation is the first-line treatment for cystic benign nodules, and radiofrequency ablation is used for the treatment of benign solid nodules and recurrent thyroid cancers. Thyroid radiology practice has an essential clinical role in diagnosis and nonsurgical treatment of thyroid nodular diseases, and treatment should be performed based on standard care guidelines for proper patient care. In order to provide the best care to patients with thyroid nodular disease, it is desirable to treat patients in the radiology outpatient clinic. Thyroid radiology practice centered on outpatient clinic practice needs to be expanded.

• Journal of Chest Surgery
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• v.43 no.6
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• pp.681-686
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• 2010

Background: A chest computed-tomography has become more prevalent so that it is more common to detect small sized pulmonary nodules that have not been found in previous simple chest x-ray. If those detected nodules are undersized or located in pulmonary parenchyma, it is difficult to accomplish a biopsy since it is vulnerable to explore them either grossly or digitally. Thus, in our hospital, a thoracoscopic pulmonary wedge resection was performed after locating a lesion by means of hook wire with CT-guided. Material and Method: 31 patients (17 males and 14 female patients) from December in 2006 to June in 2010 became our subjects; their 34 pulmonary nodules were subjected to the thoracoscopic pulmonary wedge resection after locating a lesion by means of hook wire with CT-guided. Also we analyzed a possibility of hook wire dislocation, a frequency of conversion to open thoracotomy, time consumed to operation after location of a lesion, operation time, post operation complication, and histological diagnosis of the lesion. Result: 12 of 34 cases were ground glass lesion, whereas 22 cases of them were solitary pulmonary lesion. The median value of the lesion was 8mm in size (range: 3 to 23 mm), while the median value was 12.5 mm in depth (range: 1 to 34 mm). The median value of time consumed from location of the lesion to anesthetic induction was 86.5 minutes (41~473 minutes); furthermore the mean value of operation time was 103 minutes (25~345 minutes). Intrathoracic wire dislocation was found in one case, but a target lesion was successfully excised. Open thoracotomy was performed in four cases due to pleural adhesion. However, there was no case of conversion to open thoracotomy due to failure to detect a target lesion. In histological diagnosis, metastatic cancer were found in 15 cases, which were the most common, primary lung cancer were in 9 cases, non-specific inflammation were in 3 cases, tuberculosis inflammation were in 2 cases, lymph nodes were in 2 cases, active tuberculosis were in 1 case, atypical adenomatous hyperplasia was in 1 case and normal lung parenchymal finding was in 1 case, respectively. Conclusion: In our hospital, in order to accomplish a precise histological diagnosis of ground-glass lesion and pulmonary nodules in lung parenchyma, location of pulmonary nodules were exactly located with hook wire under chest computed-tomography, which was followed by lung biopsy. We concluded that this was an accurate, minimally invasive and valuable method to minimize the complications and increase of cost of medical service provided.

• Journal of Animal Reproduction and Biotechnology
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• v.37 no.4
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• pp.292-297
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• 2022

Direct injection of CRISPR/Cas9 into zygotes enables the production of genetically modified nonhuman primates (NHPs) essential for modeling specific human diseases, such as Usher syndrome, and for developing novel therapeutic strategies. Usher syndrome is a rare genetic disease that causes loss of hearing, retinal degeneration, and problems with balance, and is attributed to a mutation in MYO7A, a gene that encodes an uncommon myosin motor protein expressed in the inner ear and retinal photoreceptors. To produce an Usher syndrome type 1B (USH1B) rhesus macaque model, we disrupted the MYO7A gene in developing zygotes. Identification of appropriately edited MYO7A embryos for knockout embryo transfer requires sequence analysis of material recovered from a trophectoderm (TE) cell biopsy. However, the TE biopsy procedure is labor intensive and could adversely impact embryo development. Recent studies have reported using cell-free DNA (cfDNA) from embryo culture media to detect aneuploid embryos in human in vitro fertilization (IVF) clinics. The cfDNA is released from the embryo during cell division or cell death, suggesting that cfDNA may be a viable resource for sequence analysis. Moreover, cfDNA collection is not invasive to the embryo and does not require special tools or expertise. We hypothesized that selection of appropriate edited embryos could be performed by analyzing cfDNA for MYO7A editing in embryo culture medium, and that this method would be advantageous for the subsequent generation of genetically modified NHPs. The purpose of this experiment is to determine whether cfDNA can be used to identify the target gene mutation of CRISPR/Cas9 injected embryos. In this study, we were able to obtain and utilize cfDNA to confirm the mutagenesis of MYO7A, but the method will require further optimization to obtain better accuracy before it can replace the TE biopsy approach.

• Korean Journal of Radiology
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• v.23 no.10
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• pp.1019-1027
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• 2022

Objective: Thyroidectomy bed lesions frequently show suspicious ultrasound (US) features after thyroid surgery. Fine-needle aspiration (FNA) may not provide definitive pathological information about the lesions. Although core-needle biopsy (CNB) has excellent diagnostic performance in characterizing suspicious thyroid nodules, no published studies have evaluated the performance of CNB specifically for thyroidectomy bed lesions. Therefore, we aimed to evaluate the diagnostic performance and safety of CNB for characterizing thyroidectomy bed lesions. Materials and Methods: A total of 124 thyroidectomy bed lesions in 113 patients (79 female and 34 male; age, 23-85 years) who underwent US-guided CNB between December 2008 and December 2020 were included. We reviewed the US imaging features of the target lesions and the histories of previous biopsies. The pathologic results, diagnostic performance for malignancy, and complications of CNB were analyzed. Results: All samples (100%) obtained by CNB were adequate for pathological analysis. Pathological analysis revealed inconclusive results in two lesions (1.6%). According to the reference standard, 50 lesions were ultimately malignant (40.3%), and 72 were benign (58.1%), excluding the two inconclusive lesions. The performance of CNB for diagnosing malignant thyroidectomy bed lesions in the 122 lesions had a sensitivity of 98.0% (49/50), a specificity of 100% (72/72), positive predictive value of 100% (49/49), and negative predictive value of 98.6% (72/73). Eleven lesions were referred for CNB after prior inconclusive FNA results in thyroidectomy bed lesions, for all of which CNB yielded correct conclusive pathologic diagnoses. According to the pathological analysis of CNB, there were various benign lesions (58.9%, 73/124) besides recurrence, including benign postoperative lesions other than suture granuloma (32.3%, 40/124), suture granuloma (15.3%, 19/124), remnant thyroid tissue (5.6%, 7/124), parathyroid lesions (4%, 5/124), and abscesses (1.6%, 2/124). No major or minor complications were associated with the CNB procedure. Conclusion: US-guided CNB is accurate and safe for characterizing thyroidectomy bed lesions.

• The Journal of the Korean bone and joint tumor society
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• v.20 no.2
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• pp.60-65
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• 2014

Purpose: To diagnose soft tissue tumor, such as lipoma and Schwannoma, magnetic resonance imaging (MRI) is sufficient in most cases. However, various characteristics are found in MRI images of Schwannoma, thus other type of tumors are often misdiagnosed as Schwannoma with MRI images. In this study, we evaluate the diagnostic value of specific MRI findings of Schwannoma. Materials and Methods: From January 2002 to May 2013, 104 patients who are suspected as Schwannoma rith MRI images are included in data, and the final diagnosis is confirmed with biopsy. Patients are divided into group 1 and group 2 who are confirmed as Schwannoma and other disease with biopsy, respectively. Results: 92 patients were diagnosed as Schwannoma (group 1) and 12 patients were diagnosed as other disease (group 2). We investigate the diagnostic value of specific MRI findings of Schwannoma. 41 patients of group 1 (45%) and 0 patients of group 2 (0%) showed target sign, 47 patients of group 1 (51%) and 2 patients of group 2 (17%) showed fascicular sign, 44 patients of group 1 (48%) and 5 patients of group 2 (42%) showed fat split sign, 28 patients of group 1 (30%) and 1 patients of group 2(9%) showed nerve entering and exiting sign, and 8 patients of group 1 (9%) and 6 patients of group 2 (50%) showed none of four specific findings on their MRI images. 52 patients of group 1 (57%) and 5 patients of group 2 (42%) have tumors on the pathway of nerve. Target sign could be considered as the best diagnostic value of the sign we investigate (p<0.05). Conclusion: Although specific MRI findings have powerful diagnostic value, patients are often misdiagnosed as Schwannoma with MRI findings. Therefore, if patients who are suspected as Schwannoma based on MRI findings have no target sign on their MRI images, we should consider the possibility of other disease.

• Childhood Kidney Diseases
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• v.19 no.2
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• pp.167-170
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• 2015

Hypereosinophilic syndrome (HES) is characterized by the presense of hypereosinophilia with evidence of target organ damage. We report a patient diagnosed with eosinophilic cystitis and HES. A 7 year old boy had hematuria, dysuria, and increased urinary frequency for 1 day. Laboratory examinations revealed hypereosinophilia (eosinophils, $2,058/{\mu}L$), hematuria, and proteinuria. Abdominal sonography revealed diffuse and severe wall thickening of the bladder. The patient was treated initially with antibiotics. However, his symptoms did not improve after 7 days. A computed tomography scan demonstrated severe wall thickening of the bladder and the hypereosinophilia persisted (eosinophils, $2,985/{\mu}L$). The patient complained of chest discomfort, dyspnea, epigastric pain, and vomiting on hospital day 10. Parasitic, allergic, malignancy, rheumatologic, and immune workups revealed no abnormal findings. Chest X-rays, electrocardiography, and a pulmonary function test were normal; however, the hypereosinophilia was aggravated (eosinophils, $3,934/{\mu}L$). Oral deflazacort was administered. A cystoscopic biopsy showed chronic inflammation with eosinophilic infiltration. The patient's respiratory, gastrointestinal, and urinary symptoms improved after 6 days of steroids, and he was discharged. The eosinophil count decreased dramatically ($182/{\mu}L$). The hypereosinophilia waxed and waned for 7 months, and the oral steroids were tapered and stopped. This case describes a patient diagnosed with eosinophilic cystitis and HES.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.6
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• pp.2619-2623
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• 2012

The prevalence of human papillomavirus genotypes differs in various target organs. HPV16 is the most prevalent genotype in the cervix while genotypes 6 and 11 are highly prevalent in skin and aero-digestive tract infections. In this study HPV11 positive specimens were selected from cervix, larynx and lung biopsy tissue to analyze the whole genome by PCR and direct sequencing. Five HPV11 whole genomes were characterized, consisting of two cervical specimens, two laryngeal specimens and one lung specimen. The results showed high homology of HPV11 in these organs. Phylogenetic analysis showed that all HPV11 derived from various organs belonged to the same lineage. Molecular characterization and functional studies can further our understanding of virulence, expression or transmission. Additional studies on functional protein expression at different organ sites will also contribute to our knowledge of HPV infection in various organs.

• BMB Reports
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• v.57 no.3
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• pp.155-160
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• 2024

Lung cancer carries one of the highest mortality rates among all cancers. It is often diagnosed at more advanced stages with limited treatment options compared to other malignancies. This study focuses on calnexin as a potential biomarker for diagnosis and treatment of lung cancer. Calnexin, a molecular chaperone integral to N-linked glycoprotein synthesis, has shown some associations with cancer. However, targeted therapeutic or diagnostic methods using calnexin have been proposed. Through 1D-LCMSMS, we identified calnexin as a biomarker for lung cancer and substantiated its expression in human lung cancer cell membranes using Western blotting, flow cytometry, and immunocytochemistry. Anti-calnexin antibodies exhibited complement-dependent cytotoxicity to lung cancer cell lines, resulting in a notable reduction in tumor growth in a subcutaneous xenograft model. Additionally, we verified the feasibility of labeling tumors through in vivo imaging using antibodies against calnexin. Furthermore, exosomal detection of calnexin suggested the potential utility of liquid biopsy for diagnostic purposes. In conclusion, this study establishes calnexin as a promising target for antibody-based lung cancer diagnosis and therapy, unlocking novel avenues for early detection and treatment.

• Clinical and Experimental Reproductive Medicine
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• v.26 no.1
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• pp.103-109
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• 1999

Objective: Heat shock protein 70-2 (Hsp70-2) gene knockout mice are found to have premeiotic arrest at the primary spermatocyte stage with a complete absence of spermatids and spermatozoa. This observation led to the hypothesis that hspA2 may be disrupted in human testes with abnormal spermatogenesis. To test this hypothesis, we studied the mRNA expression of hspA2 in infertile men with azoospermia. Design: The mRNA expression were analyzed by competitive RT-PCR among testes with normal spermatogenesis, pachytene spermatocyte arrest, and sertoli-cell only syndrome. Materials and methods: Testicular biopsy was performed in men with azoospermia (n=15). Specimens were subdivided into three groups: (group 1) normal spermatogenesis (n=5), (group 2) spermatocyte arrest (n=5), (group 3) Sertoli-cell only syndrome (n=5). Total RNA was extracted by Trizol reagent. Total extracted RNA was reverse transcribed into cDNA and amplified by PCR using specific primers for hspA2 target cDNAs. A competitive cDNA fragment was constructed by deleting a defined fragment from the target cDNA sequence, and then coamplified with the target cDNA for competitive PCR. Glyceraldehyde-3-phosphate dehydrogenase (GAPDH) gene was used as an internal control. Results: On Competitive RT-PCR analyses for hspA2 mRNA, significant amount of hspA2 expression was observed in group 1, whereas a constitutively low level of hspA2 was expressed in groups 2 and 3. Conclusion(s): The study demonstrates that the hspA2 gene expression is down-regulated in human testes with abnormal spermatogenesis, which in turn suggests that hspA2 gene may play a specific role during meiosis in human testes.

• Journal of Genetic Medicine
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• v.16 no.2
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• pp.67-70
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• 2019

Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies that has extremely heterogeneous clinical features and genetic background. The caveolin-3 gene (CAV3) is one of the causative genes. LGMD appears as a clinical continuum, from isolated skeletal muscle involvement to long QT syndrome. Here we report two patients without apparent muscle weakness in a family with CAV3 mutation. A 7-month-old Korean boy visited our muscle clinic because of an incidental finding of elevated serum creatine kinase (CK) concentration (680 IU/L, reference range, 20-270 IU/L) without clinical symptoms. The patient was born after an uneventful pregnancy and showed normal developmental milestones. He developed pseudohypertrophy of his calf muscle during the follow-up. We obtained a muscle biopsy at age 14 months, which showed size variations and degenerating/regenerating myofibers with endomysial fibrosis and immunohistochemical evidence of normal dystrophin. Under the impression of LGMD, we performed target panel sequencing and identified a heterozygous in-frame mutation of CAV3, c.307_312delGTGGTG (p.Val103_Val104del). Immunohistochemical staining of muscle indicated complete loss of caveolin-3 compared with normal control muscle, which supported the variant's pathogenicity. We performed segregation analysis and found that the patient's mother had the same variant with elevated serum CK level (972 IU/L). We report on autosomal dominant familial caveolinopathy caused by a pathogenic variant in CAV3, which was asymptomatic until the fourth decade. This case highlights the utility of next generation sequencing in the diagnosis of muscular dystrophies and the additive role of muscle biopsy to confirm the variants.