• Title/Summary/Keyword: Review Features

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Infantile nystagmus syndrome: Promise and pitfalls of genetic testing

  • Eun Hye Oh;Jae-Hwan Choi
    • Journal of Genetic Medicine
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    • v.21 no.1
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    • pp.14-21
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    • 2024
  • Infantile nystagmus syndrome (INS) refers to congenital forms of nystagmus that are present at birth or during infancy. This syndrome may be caused by afferent visual system disorders or abnormal development of the ocular motor system. INS is a genetically heterogeneous disorder for which there are more than 100 causative genes. Since applying clinical tests for the differential diagnosis of INS can be challenging in early infancy and children, genetic testings such as next-generation sequencing are becoming more important for achieving accurate diagnoses. An improved understanding of the molecular mechanisms of INS may also lead to the development of gene-based therapies for INS. These advantages of genetic testing have the potential to change the diagnostic paradigm of patients with INS. However, the diagnostic pathway based on genetic testing still has several limitations in terms of the therapeutic effect and methodology. This review summarizes genetic and clinical features of INS, and discusses the promise and pitfalls of genetic testing in INS.

Recent Issues in Musculoskeletal Anatomy Research and Correlation with MRI (근골격 해부학의 최신 지견 및 자기공명영상 소견)

  • Hyerim Park; Joon-Yong Jung
    • 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.

Comparative Analysis of Healthcare Architecture Design Research between Korea and the United States - Centered on the Analysis of Research Trends in KIHA and HERD (한국과 미국의 의료건축 설계 연구의 특성 비교 - KIHA와 HERD의 연구경향 분석을 중심으로)

  • Kim, Duksu;Kwun, Joon Bum
    • Journal of The Korea Institute of Healthcare Architecture
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    • v.30 no.2
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    • pp.7-14
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    • 2024
  • Purpose: This study aims to examine the trends in healthcare architecture research by analyzing papers published in KIHA (Journal of the Korea Institute of Healthcare Architecture) and HERD (Health Environments Research and Design Journal) in the USA. The analysis categorizes these papers into Evidence-Based Design (EBD) and non-EBD research from a comparative perspective. Methods: A systematic literature review was conducted on 370 papers published in KIHA and 399 papers published in HERD from 2007 to 2022. The research trends were analyzed based on the researchers' fields of study, research focus, and research attributes. Results: The findings indicate that HERD involves researchers from 43 different fields, whereas KIHA involves researchers from 16 fields, indicating less diversity. HERD predominantly includes interdisciplinary and empirical studies, while KIHA primarily features theoretical and single-discipline studies. Papers in HERD generally demonstrate a higher level of evidence compared to those in KIHA. Implications: Direct comparisons should be approached with caution due to the differing contexts of healthcare architecture research in the two countries. The methodological efforts in HERD and the functional analysis results in KIHA provide valuable references for the future direction of healthcare architecture research. Expanding collaborative and interdisciplinary research involving various professionals is essential to advance the field.

Nodular Fasciitis of the Breast Mimicking Phyllodes Tumors: A Case Report and Literature Review (엽상 종양처럼 보이는 유방의 결절성 근막염: 증례 보고 및 문헌 고찰)

  • Yun Hwa Chang;Suk Jin Park;Joo Heon Kim
    • Journal of the Korean Society of Radiology
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    • v.83 no.6
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    • pp.1394-1399
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    • 2022
  • Nodular fasciitis is a benign proliferative lesion of the fibroblasts and/or myofibroblasts, generally detected in the soft tissue of the upper extremities. It has also been reported in the lower extremities, head, and neck, and rarely in the breast. Its rarity and nonspecific clinical and radiological features resemble those of malignant tumors of the breast and make the differential diagnosis and management difficult. Herein, we present a rare case of nodular fasciitis of the breast, which was initially suspected to be a phyllodes tumor.

Various Intratesticular Hypoechoic Lesions on Scrotal Sonography (초음파에서 보이는 다양한 고환 내 저음영 병변)

  • Jung In Jo;Dal Mo Yang;Hyun Cheol Kim;Sang Won Kim
    • Journal of the Korean Society of Radiology
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    • v.83 no.4
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    • pp.861-875
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    • 2022
  • Sonography with a high-frequency transducer is the modality of choice for imaging the scrotum. Most intratesticular lesions are hypoechoic. Differentiation of intratesticular hypoechoic lesions as either malignant or benign is important because the treatment of these lesions vary. In this paper, we review the sonographic features of different types of intratesticular hypoechoic lesions, such as testicular cysts, testicular tumors, testicular inflammatory lesions, segmental testicular infarction, and testicular trauma.

Borden Type I Sigmoid Sinus Dural Arteriovenous Fistula Presenting as Subarachnoid Hemorrhage from a Feeding Artery Aneurysm of the Anterior Inferior Cerebellar Artery: A Case Report (Borden I 유형의 S상 정맥동 경막 동정맥루의 공급 동맥인 전방 하뇌 소뇌 동맥의 동맥류 파열로 인한 지주막하 출혈: 증례 보고)

  • Myojeong Kim;Sung-Tae Park
    • Journal of the Korean Society of Radiology
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    • v.81 no.6
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    • pp.1472-1477
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    • 2020
  • Dural arteriovenous fistula is an acquired vascular anomaly that can cause various symptoms. Here, we report a rare case of Borden type I sigmoid sinus dural arteriovenous fistula presenting as subarachnoid hemorrhage. Bleeding occurred from a side-wall aneurysm in the lateral pontomedullary segment of the anterior inferior cerebellar artery, which was a minor pial feeder. Features on imaging modalities, including brain CT, CT angiography, MR imaging/angiography and digital subtraction angiography, are described with a literature review.

Imaging of Scrotal Tumors (음낭 종양의 영상 소견)

  • Seungsoo Lee;Young Taik Oh;Dae Chul Jung
    • Journal of the Korean Society of Radiology
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    • v.82 no.5
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    • pp.1053-1065
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    • 2021
  • Ultrasonography is effective for imaging superficial organs, such as the scrotum. Using a highfrequency transducer, ultrasonography can identify the location and characteristics of scrotal lesions with high accuracy. The primary role of ultrasound (US) in the evaluation of a scrotal mass is to determine if it is intratesticular or extratesticular. Additional clinical information and other imaging options may be needed to diagnose benign tumors and pseudo-tumors. MRI is an effective problem-solving tool in cases with nondiagnostic US findings. CT is helpful for staging testicular cancer and localizing undescended testis. This review covers the imaging features of testicular and extratesticular tumors.

Understanding the Pathophysiology and Magnetic Resonance Imaging of Multiple Sclerosis and Neuromyelitis Optica Spectrum Disorders

  • Laura Cacciaguerra;Maria A. Rocca;Massimo Filippi
    • Korean Journal of Radiology
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    • v.24 no.12
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    • pp.1260-1283
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    • 2023
  • Magnetic resonance imaging (MRI) has been extensively applied in the study of multiple sclerosis (MS), substantially contributing to diagnosis, differential diagnosis, and disease monitoring. MRI studies have significantly contributed to the understanding of MS through the characterization of typical radiological features and their clinical or prognostic implications using conventional MRI pulse sequences and further with the application of advanced imaging techniques sensitive to microstructural damage. Interpretation of results has often been validated by MRI-pathology studies. However, the application of MRI techniques in the study of neuromyelitis optica spectrum disorders (NMOSD) remains an emerging field, and MRI studies have focused on radiological correlates of NMOSD and its pathophysiology to aid in diagnosis, improve monitoring, and identify relevant prognostic factors. In this review, we discuss the main contributions of MRI to the understanding of MS and NMOSD, focusing on the most novel discoveries to clarify differences in the pathophysiology of focal inflammation initiation and perpetuation, involvement of normal-appearing tissue, potential entry routes of pathogenic elements into the CNS, and existence of primary or secondary mechanisms of neurodegeneration.

IL-17-Producing Cells in Tumor Immunity: Friends or Foes?

  • Da-Sol Kuen;Byung-Seok Kim;Yeonseok Chung
    • IMMUNE NETWORK
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    • v.20 no.1
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    • pp.6.1-6.20
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    • 2020
  • IL-17 is produced by RAR-related orphan receptor gamma t (RORγt)-expressing cells including Th17 cells, subsets of γδT cells and innate lymphoid cells (ILCs). The biological significance of IL-17-producing cells is well-studied in contexts of inflammation, autoimmunity and host defense against infection. While most of available studies in tumor immunity mainly focused on the role of T-bet-expressing cells, including cytotoxic CD8+ T cells and NK cells, and their exhaustion status, the role of IL-17-producing cells remains poorly understood. While IL-17-producing T-cells were shown to be anti-tumorigenic in adoptive T-cell therapy settings, mice deficient in type 17 genes suggest a protumorigenic potential of IL-17-producing cells. This review discusses the features of IL-17-producing cells, of both lymphocytic and myeloid origins, as well as their suggested pro- and/or anti-tumorigenic functions in an organ-dependent context. Potential therapeutic approaches targeting these cells in the tumor microenvironment will also be discussed.

Beyond Cognitive Empathy: Suggestions for Strengthening Medical Students' Empathy (인지적 공감을 넘어: 의과대학생의 공감능력 증진을 위한 제안)

  • Youngjoon Lee
    • Korean Medical Education Review
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    • v.26 no.2
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    • pp.140-154
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    • 2024
  • A physician's empathy plays a crucial role in patient-centered care, and in modern medicine, patients, their caregivers, and society demand a high level of empathy from healthcare providers. The conceptualization of clinical empathy, which has emphasized cognitive empathy since the mid-20th century, has been widely accepted in medical schools and the healthcare industry without much critical ref lection. This study provides an overview of the ongoing debates on empathy versus sympathy and cognitive empathy versus affective empathy to clarify the concept of empathy. Based on recent research findings, clinical empathy is proposed to encompass three components: cognitive empathy, affective empathy, and empathic motivation. It is suggested that fully demonstrating these components requires empathic communication skills. Additionally, the cognitive characteristics of medical students and the features of the academic environment demonstrate the need for education to strengthen their empathy skills. Considering this, proposed intervention methods that medical schools can consider include utilizing tutoring programs and debriefing processes for team activities, which can facilitate problem-solving as a coping strategy for stress. Learning communities can create an environment where students can receive social support and recover from stress. Medical schools can contribute to the development of students' professional identities as practicing clinicians who embody empathy and respect by cultivating professors as positive role models. Additionally, utilizing scales to assess the empathic nature of doctor-patient communication or incorporating patients and caregivers as evaluators can actively improve empathic communication skills.