• 대한영상의학회지
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• 제81권3호
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• pp.530-548
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• 2020

갑상선 영상의학 진료란 갑상선 질환 환자를 영상의학적 방법을 활용하여 질병 진단과 중재적 치료를 하는 의료 행위로 정의될 수 있으며 주요 진료 대상은 갑상선 결절 질환 환자들이다. 갑상선 결절의 진단은 일차적으로 초음파 영상진단과 생검에 의해서 이루어지고 결절의 치료는 비수술적 중재적 치료와 갑상선절제술이다. 갑상선 낭종 혹은 낭성우세 양성 결절에서는 에탄올절제술이 일차적 치료법이고 고주파절제술은 고형 혹은 고형우세 양성 결절과 갑상선 재발암 치료에 적용되고 있다. 갑상선 영상의학 진료는 갑상선 결절 질환 환자의 진단 및 비수술적 치료의 대부분을 담당하는 중요한 임상적 역할을 가지고 있으며, 적절한 환자 진료를 위해서는 표준적 진료 지침에 근거하여 진료가 수행되어야 한다. 환자에게 최적의 갑상선 영상의학 진료를 제공하기 위해서는 영상의학과 외래에서 환자를 진료하는 것이 바람직하며 외래 중심의 갑상선 영상의학 진료를 확대하도록 함께 노력해야 할 시점이다.

• Journal of Chest Surgery
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• 제43권6호
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• pp.681-686
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• 2010

배경: 흉부전산화단층촬영이 보편화되면서 기존의 단순흉부촬영에서는 발견되지 않았던 작은 폐결절이 발견되는 경우가 많아졌다. 이렇게 발견된 폐결절중 크기가 작거나 폐실질 내부에 위치한 결절은 육안 및 촉진으로 확인이 어려운 경우가 많아 생검을 시행하는데 어려움이 따른다. 본원에서는 흉부 전산화단층촬영 유도하에 Hook wire를 사용하여 위치선정을 시행한 후 흉강경하 폐쐐기절제술을 시행하였다. 대상 및 방법: 2006년 12월부터 2010년 6월까지 31명의 환자(남자 17명, 여자 14명)에서 34개의 폐결절을 대상으로 흉부전산화단층촬영 유도 하에 Hook wire를 사용하여 위치선정을 한 후, 흉강경하 폐쐐기절제술을 시행하였다. Hook wire의 이탈 여부, 개흉술 전환 빈도, 위치선정 후 수술 시작까지의 시간, 수술시간, 수술 후 합병증, 대상 병변의 조직학적 진단 등을 분석하였다. 결과: 34예 중 12예는 간유리 병변이었으며 22예는 고형의 폐결절이었다. 병변 크기의 중앙값은 8 mm (범위: 3~23 mm)였으며 병변 깊이의 중앙값은 12.5 mm (범위 1~34 mm)였다. 위치선정 후 마취 시작까지 걸린 시간의 중앙값은 86.5분(41~473분)이었으며, 수술시간의 중앙값은 103분(25~345분)이었다. 1예에서 wire의 흉강 내 이탈이 있었으나 성공적으로 목표 병변을 절제하였다. 4예에서 흉막유착으로 인해 개흉술을 시행하였다. 그러나 목표 병변을 찾지 못해 개흉술로 전환한 예는 없었다. 조직학적 진단에서 전이성 암이 15예로 가장 많았으며, 원발생 폐암 9예, 비특이적 염증소견 3예, 결핵성 염증소견 2예. 림프절 2예, 활동성 결핵 l예, 비정형 샘 증식증 1예 및 정상폐조직 1예로 보고되었다. 결론: 폐실질 내에 위치한 간유리 음영 및 폐결절의 정확한 조직학적 진단을 위해 본원에서는 흉부전산화단층촬영 유도하 Hook wire를 삽입하여 폐결절의 위치를 선정한 후 폐 생검을 시행하였다. 저자들은 이 방법이 정확하면서 최소침습적이고 합병증 발생 및 진료비 상승을 최소화할 수 있는 유용한 술기라고 생각한다.

• 한국동물생명공학회지
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• 제37권4호
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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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• 제23권10호
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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.

• 대한골관절종양학회지
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• 제20권2호
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• pp.60-65
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• 2014

목적: 연부조직 종양 중 지방종과 신경초종(Schwannoma)은 자기공명영상촬영(MRI)만으로 충분한 진단적 가치를 가지는 종양이다. 하지만 신경초종의 경우 종양의 특성상 MRI에서 다양한 형태의 영상으로 나타날 수 있고, 신경주변에 생긴 다른 종양이 MRI상 신경초종으로 오인되는 경우도 드물지 않게 있다. 따라서 MRI상 신경초종으로 의심되는 환자를 대상으로 하여 MRI에서 신경초종을 감별할 수 있는 인자들을 찾아보고자 하였다. 대상 및 방법: 2002년 1월부터 2013년 5월까지 술 전 자기공명영상촬영(MRI)상 신경초종(schwannoma)이 의심된 환자 104예를 대상으로 하였으며 모든 환자에서 수술적 치료를 통한 조직검사를 시행하여 최종 진단 하였다. 조직 검사 결과 신경초종이 나온 경우를 1군으로 하고, 다른 병변이 나온 경우를 2군으로 나누어서 MRI 상 신경초종을 의심할 수 있는 영상의학적 소견을 비교 분석하였다. 결과: 104예의 조직검사 결과 신경초종으로 진단된 경우는 92예이며, 신경초종 외에 다른 병변으로 진단된 경우는 12예였다. MRI 특이 소견중 target sign은 1군에서는 41예(45%), 2군에서는 없었으며, fascicular sign은 1군에서는 47예(51%), 2군에서는 2예(17%), fat split sign은 1군에서는 44예(48%), 2군에서는 5예(42%), nerve entering and exiting sign은 1군에서는 28예(30%), 2군에서는 1예(9%)가 나타났다. 위 네가지 소견 모두 나타나지 않은 경우는 1군에서 8예(9%), 2군에서 6예(50%) 였다. 종양이 신경 주행 경로에 있는 경우는 1군에서 52예(57%), 2군에서 5예(42%)였다. Chi-squared test를 이용한 통계학적 분석에서, 위의 네가지 소견 중 target sign이 신경초종의 진단과 유의한 관계를 보였다(p<0.05). 결론: 신경초종 진단에 MRI가 중추적인 역할을 하고 있지만, 신경초종이 지닌 여러가지 특성으로 인해 MRI상 신경초종으로 의심된 경우라고 하더라도 최종적으로는 다른 종양으로 확진 된 경우가 드물지 않게 있다. 그러므로 MRI상 과녁징후가 보이지 않는 신경초종의 경우에는 다른 종양의 가능성도 염두에 두고 접근을 해야 할 것으로 보인다.

• Childhood Kidney Diseases
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• 제19권2호
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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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• 제13권6호
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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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• 제57권3호
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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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• 제26권1호
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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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• 제16권2호
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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.