• Journal of Yeungnam Medical Science
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• v.36 no.3
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• pp.273-280
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• 2019

Cerebral venous sinus thrombosis (CVT) is a rare cerebrovascular condition accounting for 0.5-1% of all types of strokes in the general population. Hyperthyroidism is associated with procoagulant and antifibrinolytic activity, thereby precipitating a hypercoagulable state that predisposes to CVT. We report the case of a 31-year-old Korean man with massive CVT and diagnosis of concomitant Graves' disease at admission. Early diagnosis and prompt treatment of CVT are important to improve prognosis; therefore, CVT should be considered in the differential diagnosis in all patients with hyperthyroidism presenting with neurological symptoms.

• Journal of Yeungnam Medical Science
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• v.40 no.4
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• pp.442-447
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• 2023

Acute phlegmonous esophagitis (APE) is a rare and fatal disease. Phlegmonous infection involves the submucosal layer and muscularis propria but not the mucosal layer. Because surgery is not the first treatment option for this disease, an accurate diagnosis is crucial. Herein, we report three cases of APE with various clinical features. All patients were successfully treated with antibiotics and appropriate medical procedures.

• The Korean Journal of Applied Statistics
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• v.25 no.3
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• pp.435-446
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• 2012

Epidemiologic studies frequently try to estimate the impact of a specific risk factor. The risk difference and the risk ratio are generally useful measurements for this purpose. When using such measurements for rare events, the standard approaches based on the normal approximation may fail, in particular when no events are observed. In this paper, we discuss and evaluate several existing methods to construct confidence intervals around risk differences and risk ratios using Monte-Carlo simulations when the disease of interest is rare. The results in this paper provide guidance how to construct interval estimates of the risk differences and the risk ratios when no events are detected.

• Journal of Genetic Medicine
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• v.21 no.1
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• pp.1-5
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• 2024

Despite advances in the diagnosis and management of rare diseases (RDs), there remains a tendency to overlook adult RD patients. In addition to the considerable number of adult-onset RDs, advances in the diagnosis and management of pediatric RDs have led to an increase in the survival of these patients into adulthood. Adult RDs exhibit distinct features from pediatric counterparts, necessitating careful consideration during medical assessments. Given the extended life expectancy of adult RD patients, precise diagnosis and management strategies can significantly enhance patient outcomes. This review aims to provide an in-depth exploration of the characteristics unique to adult RDs. Special emphasis will be placed on the importance of cascade screening and prenatal genetic testing in the context of adult RDs, highlighting the need for a comprehensive understanding of these aspects in clinical practice.

• Journal of Oriental Neuropsychiatry
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• v.33 no.3
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• pp.227-239
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• 2022

Objectives: The purpose of this study was to develop a standardization manual for Emotion To Emotion therapy. In this study, the processes and categories derived through literature search related to the Emotion To Emotion treatments, were revised and supplemented by the expert FGI (Focus Group Interview). Afterwards, the expert Delphi was conducted, to develop a standard manual for the disease types, purpose, and method of Emotion To Emotion therapy. Methods: In this study, literature analysis and expert Delphi, as a quantitative research method, were conducted, and the expert Focus Group Interview (FGI) was conducted as a qualitative study. The manual was completed by leading the consensus, on the standardization manual for Emotion To Emotion therapy. After that, a clinical expert Delphi was conducted to test the reliability as well as validity of the manual, through quantitative consensus on the manual of the Emotion To Emotion therapy. Results: First, as a result of literature studies, to date, studies related to Emotion To Emotion therapy have been qualitatively and quantitatively limited, as comparative literature related to clinical cases. Second, through expert FGI, the manual was structured with eight sub-factors for the indication diagnosis, six sub-factors for the implementation method, and 13 detailed factors. Third, through an expert Delphi, the consensus did the factor of indication, implementation methods, and implementation process, and developed a standardization manual for Emotion To Emotion therapy ver 1.0. Conclusions: Through literature analysis, expert FGI, and expert Delphi, the Emotion To Emotion therapy standardization manual ver 1.0 was completed, and will proceed with the revision and improvement report.

• Journal of Yeungnam Medical Science
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• v.31 no.2
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• pp.127-130
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• 2014

Autoimmune thyroiditis is the most common cause of hypothyroidism in the world. It is characterized clinically by gradual thyroid failure, goiter formation, or both, because of the autoimmune-mediated destruction of the thyroid gland. Renal involvement presenting proteinuria in autoimmune thyroiditis is not uncommon, occurring in 10% to 30% of the cases. Glomerulonephropathy associated with autoimmune thyroiditis, however, is a rare disease. Most reports of autoimmune thyroiditis with glomerulonephropathy have demonstrated a mixed pathological morphology and have been predominantly associated with membranous glomerulopathy. The case of minimal-change disease associated with thyroiditis presenting acute kidney injury is a rare disease that has not been reported in South Korea. Reported herein is the case of a 16-year-old man diagnosed with Hashimoto's thyroiditis, with minimal-change disease presenting acute kidney injury. He revealed hypothyroidism, proteinuria, and impaired renal function. Renal biopsy showed minimal-change disease and minimal tubular atrophy. The patient was treated with thyroid hormone, and his renal function and proteinuria improved. Therefore, for patients with autoimmune thyroiditis presenting unexplained proteinuria, glomer-ulonephropathy should be ruled out. Conversely, for patients with glomerulonephropathy and persistent proteinuria despite proper treatment, thyroid function and antibody tests should be performed.

• Journal of mucopolysaccharidosis and rare diseases
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• v.3 no.1
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• pp.14-19
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• 2017

Lysosomal storage diseases (LSDs) are a group of rare inherited metabolic disorders caused by the deficiency of specific lysosomal enzymes and subsequent accumulation of substrates. Enzyme deficiency leads to progressive intra-lysosomal accumulation of the incompletely degraded substances, which cause dysfunction and destruction of the cell and eventually multiple organ damage. Patients have a broad spectrum of clinical phenotypes which are generally not specific for some LSDs, leading to missed or delayed diagnosis. Due to the availability of treatment including enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation for some LSDs, early diagnosis is important. ERT products have been approved with optimal outcomes for some LSDs in the recent decades, including Gaucher, Fabry, mucopolysaccharidosis (MPS) I, Pompe, MPS VI, MPS II, and MPS IVA diseases. ERT can stabilize the clinical condition, prevent disease progression, and improve the long-term outcome of these diseases, especially if started prior to irreversible organ damage. Based on the availability of therapy and suitable screening methods in the recent years, some LSDs, including Pompe, Fabry, Gaucher, MPS I, MPS II, and MPS VI diseases have been incorporated into nationwide newborn screening panels in Taiwan.

• Archives of Craniofacial Surgery
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• v.18 no.2
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• pp.122-127
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• 2017

Castleman's disease (CD) is an uncommon benign lymphoproliferative disorder of unknown etiology. Histopathologically, it is divided into three types: hyaline-vascular, plasma cellular, and multicentric CD. The mass usually presents asymptomatically; however, it can cause non-specific symptoms such as fever and fatigue. Although CD can be found wherever lymph nodes are present, 75% of cases are reported in the mediastinum, and occurrence in the head and neck is rare. Herein, we report a rare case of CD presenting as a superficial mass in the temporal region. To the best of our knowledge, this is the first report of temporal CD in Korea involving a young patient.

• Journal of mucopolysaccharidosis and rare diseases
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• v.2 no.1
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• pp.23-26
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• 2016

Mucopolysaccharidosis (MPS) I is a rare, progressive and multisystemic disease with insidious initial signs and symptoms, and making an early diagnosis can be a challenge for the first-line general medical practitioner. We report a 6-month-old girl who was brought to our well baby clinic for regular immunization with the manifestations of lumbar gibbus, hirsutism, large Mongolian spots over back and buttock, and mild bilateral legs spasticity noticed by the general pediatrician, and then newly diagnosed with MPS I after referral to the geneticist in time. Her surgical history included inguinal hernia repair at 1 month old, $CO_2$ laser supraglottoplasty for laryngomalacia and tracheostomy due to chronic respiratory failure with ventilator dependence at 2 months old. Understanding and identification of the early signs and symptoms of this disease have the potential to early diagnosis and timely appropriate treatment, which could contribute to a better clinical outcome.

• Korean Journal of Radiology
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• v.22 no.8
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• pp.1379-1396
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• 2021

Rare neurovascular diseases (RNVDs) have not been well-recognized in Korea. They involve the central nervous system and greatly affect the patients' lives. However, these diseases are difficult to diagnose and treat due to their rarity and incurability. We established a list of RNVDs by referring to the previous literature and databases worldwide to better understand the diseases and their current management status. We categorized 68 RNVDs based on their pathophysiology and clinical manifestations and estimated the prevalence of each disease in Korea. Recent advances in genetic, molecular, and developmental research have enabled further understanding of these RNVDs. Herein, we review each disease, while considering its classification based on updated pathologic mechanisms, and discuss the management status of RNVD in Korea.