• Journal of the Korean Child Neurology Society
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• v.24 no.3
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• pp.71-83
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• 2016

X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ATP binding cassette subfamily D member 1 (ABCD1), a gene that encodes peroxisomal membrane located on ABC half-transporter named adrenoleukodystrophy protein (ALDP). X-ALD is characterized by a highly variable clinical spectrum, including progressive cerebral type, adrenomyeloneuropathy, and addison-only phenotype. No genotype/phenotype correlation has been established. Thus, unidentified modifier genes and other co-factors are speculated to modulate the phenotypic variation and disease severity. Recent advanced sequencing methods and reprogramming technologies not only offer an affordable and applicable approach to investigate the pathophysiological mechanisms of adrenoleukodystrophy, but also provide means to develop therapy. A causal therapy of X-ALD is lacking. Lorenzo's oil therapy is recommended for asymptomatic boys, but the longest study found that the oil was not beneficial at all to symptomatic X-ALD patients. Hematopoietic stem cell therapy has a relevant chance of success when performed during this early stage of cerebral type X-ALD. Recently, it has been insisted that lentiviral-mediated gene therapy of hematopoietic stem cells can provide clinical benefits in X-ALD. This review describes current knowledge on the clinical presentation, pathogenesis, diagnosis and management of X- ALD.

• Journal of the Korean Medical Association
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• v.61 no.11
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• pp.655-661
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• 2018

Incidence of basal and squamous cell carcinoma is increasing among Korean. With increasing this incidence we need to attend the management and prevention of these cutaneous malignancies. Basal cell carcinoma (BCC) is the most common skin malignancy. Sun exposure is the most important environmental cause of BCC. Daily sun protection especially avoiding sun exposure between 10 a.m. and 4 p.m. provides most effective prevention against chronic ultraviolet-induced skin damage. Hedgehog pathway inhibitors are used locally advanced and metastatic BCC lesions in Korea. Until recently, there are no reports whether it developed resistance of Hedgehog pathway inhibitors with advanced BCC in Korean patients. Among malignant skin tumors, 19.1% were squamous cell carcinoma (SCC). The incidence of SCC was rapidly increased over the past years. However, the incidence rate of SCC in Japan has not been changed from the period 1976-1980 to 1986-1990. Sentinel lymph node biopsy for SCC did not provide diagnostic value. Bowen's disease and Erythroplasia of Queyrat are considered as carcinoma in situ of the skin. Erythroplasia of Queyrat have worse prognosis with a higher rate of malignant degeneration. Dermoscopy may helpful tool in assisting the noninvasive diagnosis of carcinoma in situ of the skin.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.32 no.1
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• pp.1-8
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• 2021

Human vocal cords vibrate as quickly as 100-250 times per second, so it is impossible to observe them with normal endoscopic diagnostic equipment. High-speed videolaryngoscopy (HSV) allows the visualization of non-periodic vibratory motion of vocal fold beyond the limitation of videostroboscopy. New developed post-processing methods that converts HSV to two-dimensional videokymography (2D VKG) using U-medical image-processing software can provide quantitative information on vocal fold mucosa vibration. Multifunctional laryngeal examination system is composed of 3 kinds of examinations such as HSV, 2D scanning digital kymography (2D DKG) and line scanning digital kymography (DKG). Evaluation of entire vocal cord vibratory pattern in each cord is possible using 2D DKG and a faster and more reliable quantitative information can be obtained. As this system is used in clinical and research, it is expected to bring much advances to the diagnosis of voice disorders. In this review, I will introduce the principles and advantages on examination of the vocal fold vibration, which is in the spotlight recently, and proceed with the literature review.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.32 no.2
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• pp.51-55
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• 2021

There are several lasers available for office-based or suspension microlaryngoscopy laser procedures in the treatment of laryngeal diseases. Each has advantages and disadvantages given the depth of penetration per unit of power, absorption in water, spectral absorption characteristics, mode of delivery, safety, and cost. It is important to note that while the proper selection of indication of treatment based on a laser wavelength is critical, of equal importance is selecting the appropriate power setting, focal length (or spot size), and time of exposure. The photoangiolytic lasers precisely target hemoglobin within the microcirculation of the highly vascularized tissue and may have better hemostatic effects and preservation of surrounding normal tissue than the CO₂ laser. Although the choice of laser is purely theoretical and cannot be accurately concluded which parameters of laser (wattage and pulse width) were best to use, photoangiolytic laser surgery is safe and effective for specific laryngeal lesions. In this review, indications for photoangiolytic laser procedures for various laryngeal diseases, laser settings and surgical techniques for specific laryngeal lesions including sulcus vocalis, laryngeal dysplasia, and recurrent respiratory papillomatosis will be introduced. Pros and cons of in-office laser surgery using photoangiolytic laser and flexible CO₂ laser will also be addressed.

• Korean Journal of Head & Neck Oncology
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• v.37 no.2
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• pp.1-9
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• 2021

Thyroid cancer refers to various cancers arising from thyroid gland. Differentiated thyroid cancers (DTCs) include papillary, follicular, and Hurthle cell carcinomas and represent cancers retain normal thyroid functions such as iodine uptake. Radioactive iodine (RAI) is generally used for upfront treatment of metastatic DTCs, but RAI refractory DTCs remain to be clinical challenges. Sorafenib and lenvatinib were approved for the treatment of RAI refractory DTCs and more recently, genomics-based targeted therapies have been developed for NTRK and RET gene fusion-positive DTCs. Poorly differentiated and anaplastic thyroid cancers (ATCs) are extremely challenging diseases with aggressive courses. BRAF/MEK inhibition has been proven to be highly effective in BRAF V600E mutation-positive ATCs and immune checkpoint inhibitors have shown promising activities. Medullary thyroid cancers, which arise from parafollicular cells of thyroid, represent a unique subset of thyroid cancer and mainly driven by RET mutation. In addition to vandetanib and cabozantinib, highly specific RET inhibitors such as selpercatinib and pralsetinib have demonstrated impressive activity and are in clinical use.

• Journal of Digestive Cancer Research
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• v.10 no.1
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• pp.22-30
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• 2022

Immune checkpoint inhibition has been established as a new treatment option for various types of carcinoma, and many clinical trials are being actively conducted as a treatment for advanced or metastatic gastric cancer, either as a monotherapy with an immune checkpoint inhibitor or as a combination therapy with standard chemotherapy. In the CheckMate-649 clinical trial to confirm the efficacy of the combination of nivolumab and chemotherapy (FP) in advanced gastric cancer and gastroesophageal junction cancer, nivolumab group showed improvement in overall survival in programmed death ligand 1-positive cancer patients compared with placebo group. Also, the combination therapy of pembrolizumab, trastuzumab and chemotherapy (FP) in first-line treatment was tested through the KEYNOTE-811 trial. The pembrolizumab group showed 22.7% of improvement in objective response rate compared with placebo group. Accordingly, the combination of nivolumab/pembrolizumab with standard chemotherapy was approved for the first-line treatment. In KEYNOTE-059 trials for patients with progressive disease after at least two lines of chemotherapy, pembrolizumab monotherapy showed improvement in objective response rate and overall survival, and the use of pembrolizumab was approved for the third-line or more treatment. In this article, we review the result of clinical trials related to immune checkpoint inhibitors that have been recently introduced in the treatment of gastric cancer.

• Journal of Digestive Cancer Research
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• v.10 no.2
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• pp.65-73
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• 2022

A breakthrough in immunotherapy has changed the outlook for metastatic colorectal cancer (mCRC) treatment as the immune surveillance evasion mechanism of tumor cells has been continuously elucidated. Immune checkpoint inhibitors (ICI), such as pembrolizumab, nivolumab, and ipilimumab, which block immune checkpoint receptors or ligands have been approved for the treatment of mismatch repair deficient (dMMR)/microsatellite instability-high (MSI-H) mCRC based on numerous clinical studies. However, 50% of dMMR/MSI-H mCRC and most mismatch repair proficient/microsatellite stable mCRC remained unresponsive to current immunotherapy. Clinical trials on combination therapy that adds various treatments, such as target agents, chemotherapy, or radiation therapy to ICI, have been actively conducted to overcome this immunotherapy limitation. Further studies on safety and efficacy are needed although several trials presented promising data. Additionally, dMMR/MSI-H, tumor mutation burden, and programmed cell death ligand-1 expression have been studied as biomarkers for predicting the treatment response to immunotherapy, but the discovery and validation of more sensitively predictable biomarkers remained necessary. Thus, this study aimed to review recent studies on immunotherapy in mCRC, summarize the efficacy and limitation of immunotherapy, and describe the biomarkers that predict treatment response.

• Journal of the Korean Society of Radiology
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• v.81 no.1
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• pp.2-20
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• 2020

MRI is a valuable imaging technique for the evaluation of intraarticular diseases. Accurate interpretation of joint MRI necessitates sound knowledge of anatomy. In the field of joint anatomy, in addition to the discovery of new structures, previously reported joint components of unexplained function are also detected. In this review, joint anatomy researched actively over the last decade is discussed. Joint components including the rotator cable and the superior capsule of the shoulder, posterolateral corner and the anterolateral ligament complex of the knee, and the distal tibiofibular syndesmosis of the ankle joint are introduced and correlated with their MRI features.

• Journal of the Korean Society of Radiology
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• v.83 no.5
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• pp.979-990
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• 2022

Biliary atresia is a progressive, idiopathic, obliterative disease of the extrahepatic biliary tree that presents with biliary obstruction in the neonatal period. It is the most common indication for liver transplantation in children. If untreated, progressive liver cirrhosis leads to death by two years of age. Nowadays, more than 90% of biliary atresia patients survive into adulthood with the development of Kasai portoenterostomy and liver transplantation technology. Early diagnosis is critical since the success rate of the Kasai portoenterostomy decreases with time. This study comprehensively reviews the recent advances in the etiology, classification, prevalence, clinical manifestations, treatment, and prognosis of biliary atresia.

• Journal of the Korean Society of Radiology
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• v.82 no.2
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• pp.280-297
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• 2021

International guidelines recommended screening with ultrasonography (US) every 6 months for patients at risk for hepatocellular carcinoma (HCC). However, US demonstrates low sensitivity for the early detection of HCC. Magnetic resonance imaging (MRI) plays an important role in the noninvasive diagnosis of HCC, but it is not suitable for surveillance due to its lengthy examination and high cost. Therefore, several studies have been using various abbreviated MRI strategies, including noncontrast abbreviated MRI, dynamic contrast-enhanced abbreviated MRI, and abbreviated MRI using hepatobiliary phase image for HCC surveillance. In this article, we aim to review these various strategies and explore the future direction of HCC surveillance considering the cost-effectiveness aspect.