• Journal of Genetic Medicine
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• 제18권2호
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• pp.83-93
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• 2021

Charcot-Marie-Tooth disease (CMT) is the most common hereditary motor and sensory peripheral neuropathy. CMT is usually classified into two categories based on pathology: demyelinating CMT type 1 (CMT1) and axonal CMT type 2 (CMT2) neuropathy. CMT1 can be distinguished by assessing the median motor nerve conduction velocity as greater than 38 m/s. The main clinical features of axonal CMT2 neuropathy are distal muscle weakness and loss of sensory and areflexia. In addition, they showed unusual clinical features, including delayed development, hearing loss, pyramidal signs, vocal cord paralysis, optic atrophy, and abnormal pupillary reactions. Recently, customized treatments for genetic diseases have been developed, and pregnancy diagnosis can enable the birth of a normal child when the causative gene mutation is found in CMT2. Therefore, accurate diagnosis based on genotype/phenotypic correlations is becoming more important. In this review, we describe the latest findings on the phenotypic characteristics of axonal CMT2 neuropathy. We hope that this review will be useful for clinicians in regard to the diagnosis and treatment of CMT.

• Journal of Chest Surgery
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• 제57권2호
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• pp.109-119
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• 2024

Varicose veins usually present in the superficial veins of the lower extremities and are one of the main clinical presentations of chronic venous disease (CVD). Patients' symptoms may vary according to the pathophysiology, location, and severity of CVD. The prevalence of CVD in Korea has been increasing gradually. However, due to its broad clinical spectrum and the subjective nature of its diagnosis using ultrasound, discrepancies in diagnostic and treatment quality may exist among treating physicians. There have been recent efforts to improve the quality of the diagnosis and treatment of varicose veins in Korea by standardizing the diagnostic criteria and the indications for treatment. This study is a comprehensive review of the clinical manifestations and diagnostic criteria of CVD based on the most recent international and domestic guidelines and reports.

• Asian Pacific Journal of Cancer Prevention
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• 제17권10호
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• pp.4689-4692
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• 2016

Purpose: To study the clinical application value of ultrasound guided thyroid fine needle aspiration biopsy and thinprep cytology testing in diagnosis of thyroid disease. Methods: A total of 78 patients with thyroid nodules were enrolled, 34 males and 44 females, aged 33-64 years old with mean age of 47.6 years. All underwent thyroid module fine needle puncture after surgery to assess cell pathology and histopathological features. Results: Sufficient specimens were obtained from all of 78 patients, the cytological results of 73 cases (93.6 %) being consistent with pathological results. While 20 cases (25.6 %) were malignant tumors, 44 (56.4 %) were benign and 9 (11.5 %) were non-tumor lesions. The sensitivity of benign and malignant thyroid nodule by thyroid fine needle puncture was 90.9 %, specificity was 98.1 % and the positive predictive value was 96.3 %. Conclusions: It is demonstrated that ultrasound-guided thyroid fine needle aspiration biopsy and thinprep cytology testing have diagnostic value in clinical application for thyroid disease,showing good diagnostic coincidence rates with histopathological examination. They can thus be regarded as safe and effective for preoperative diagnosis and providing an appropriate basis for selection of surgery.

• Clinical and Experimental Pediatrics
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• 제53권11호
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• pp.931-935
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• 2010

Juvenile idiopathic arthritis (JIA) is comprised of a heterogeneous group of several disease subtypes that are characterized by the onset of arthritis before the age of 16 years and has symptoms lasting at least 6 weeks. The previous classification of JIA included seven different categories, whereas its current classification was compiled by the International League of the Association for Rheumatology, and replaced the previous terms of "juvenile chronic arthritis" and "juvenile rheumatoid arthritis," which were used in Europe or North America, respectively, with the single nomenclature of JIA. As mentioned above, JIA is defined as arthritis of unknown etiology that manifests itself before the age of 16 years and persists for at least 6 weeks, while excluding other known conditions. The clinical symptoms of JIA can be quite variable. Several symptoms that are characteristic of arthritis are not necessarily diagnostic of JIA and may have multiple etiologies that can be differentiated with careful examination of patient history. The disease may develop over days or sometimes weeks, thereby making the diagnosis difficult at the time of presentation. To make a clinical diagnosis of JIA, the first step is to exclude arthritis with known etiologies. Of note, late treatment due to excessive delay of diagnosis can cause severe damage to joints and other organs and impair skeletal maturation. Therefore, early detection of JIA is critical to ensure prompt treatment and to prevent long-term complications including the likelihood of disability in childhood.

• 동의신경정신과학회지
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• 제24권spc1호
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• pp.23-36
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• 2013

Objectives : The purpose of this guideline is to show the evidence-based guidelines of diagnosis and evaluation of Hwabyung by the synthesis and organization of existing research contents. Methods : We investigated the existing research on the concept of Hwabyung. Further, we investigated the diagnostic tools, self-diagnostic method, symptoms assessment tools, oriental medical diagnostic methods, treatment evaluation tools and other testing methods of Hwabyung. Results : There was a Hwabyung diagnostic interview schedule (HIBDS) in the standardized measure for the diagnosis of Hwabyung. In the symptoms assessment tools of Hwabyung, there was a self-report measurement tool of Hwabyung and measurement tool of Hwabyung to be evaluated by the interviewer. In the oriental medical diagnostic method, there was an instrument of pattern identification for Hwabyung. In the treatment assessment tool, there was an instrument of oriental medical evaluation for Hwabyung. In addition, MMPI, SCL-90R, Zung's self-rating anxiety scale (SAS), Zung's self-rating depression scale (SDS), State-Trait Anger Expression Inventory (STAXI) and etc. can be used for the diagnosis and assessment of Hwabyung. Conclusions : We expect 'Clinical Guidelines for the Treatment of Hwabyung' to be useful for the diagnosis and assessment of Hwabyung.

• 대한한방부인과학회지
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• 제36권2호
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• pp.36-54
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• 2023

Objectives: This study was aimed to develop a Korean Medicine (KM) clinical practice guideline (CPG) of Nausea and Vomiting of Pregnancy (NVP). Methods: We conducted a questionnaire survey targeting KM doctors belonging to the Association of Korean Medicine by e-mail. We received 1,023 responds, and analyzed the answers. Results: 1. 83.0% of respondents knew the concepts and contents of CPG, and 98.1% had practical use plan. 2. 82.1% of respondents used pattern identification diagnosis for NVP patients, and the most commonly diagnosed pattern was spleen-stomach weakness (脾胃虛弱) with 41.3%. 3. The most frequently used treatment for NVP patients was KM combined treatment (46.7%). Herbal medicine+acupuncture (46.8%) was most used among KM combined treatments, and herbal medicine (37.1%) was most used among KM single treatments. 4. Among the contents of CPG for NVP, the fields of interest were selected in the order of KM treatment, KM-Western medicine cooperative treatment, KM diagnosis, prevention and regimen management. In the 'diagnosis part', the use of the symptom evaluation scale questionnaire was 41.8%, higher than the KM pattern diagnosis (34.4%). In the 'treatment part', herbal medicine accounted for 33.8%, higher than that of acupuncture (including electro-acupuncture) at 23.7%. 5. As for the expected development effects, opinions on evidence-based, safety, clinical use, and standardization were the most common. Conclusions: We figured out KM doctors' recognition of KM clinical practice guideline, clinical diagnosis, treatment on NVP to make the contents of the CPG reflecting the clinical situation.

• Journal of Veterinary Science
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• 제24권5호
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• pp.64.1-64.6
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• 2023

Two Domestic Korean Shorthair cats presented with dyschezia and vomiting. Computed tomography revealed a colonic mass with calcification and lymph node metastasis in case 1, and a small intestinal mass with disseminated mesenteric metastasis and calcification in case 2. Histopathology revealed intestinal adenocarcinoma with osseous metaplasia. Case 1 died two months after surgery from distant metastasis; and case 2 showed no metastasis for five months but presented with anorexia, euthanized seven months after diagnosis. Metastatic intestinal adenocarcinoma with bone formation should be considered as differential diagnosis for calcification on imaging, and lymph node metastasis at diagnosis may indicate poor prognosis.

• 대한예방한의학회지
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• 제20권1호
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• pp.75-87
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• 2016

Objectives : This study aims to classify and analyze literature related to moire topography, as a diagnostic device of Korean medicine, discuss research trends and major results, and demonstrate the value of moire topography. Methods : To investigate moire topography research trends, Korean keywords that signify 'moire' were searched in a Korean journal search engine. Initially, 2,988 papers were found in the research, and, after classifying them and removing those that are duplicate in other databases, only 37 papers were applicable for the literature review in this study. To analyze research trends, the 37 papers were analyzed based on the publication year, research field, journal, and research type, and, clinical articles were classified based on the diagnosis purpose, subject characteristics, diagnosis method, test method, and test result, for analysis. Results : Moire topography research in South Korea was first conducted in 1995 and most active in 2003, mostly in the field of Korean medicine. In the journal analysis, The Journal of Korea CHUNA Manual Medicine for Spine & Nerves published the highest number of papers, most of which were clinical articles and the rest were literature review. And, in the analysis of clinical papers, based on the diagnosis purpose, muscle somatotype measurement was most common, followed by diagnosis of scoliosis. In terms of subjects, most studies focused on elementary, middle, and high school students, and, in terms of the diagnosis method, other tests were used in most studies. The analysis of moire topography methods showed that most studies measured the shoulder, back, and hip, and the most common measurement method in the studies measured the difference in contour lines on the left and right by designating a central line of the body. In terms of the result, most moire topography brought about significant diagnosis results, and many studies demonstrated its use for musculoskeletal diseases in particular. Conclusions : Moire topography is believed to be highly significant for diagnosis and treatment of musculoskeletal diseases and further research will be needed to support it.

• Clinical and Experimental Pediatrics
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• 제54권6호
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• pp.234-240
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• 2011

Acute disseminated encephalomyelitis (ADEM) is a demyelinating disease of the central nervous system (CNS) that typically presents as a monophasic disorder associated with multifocal neurologic symptoms and encephalopathy. ADEM is considered an autoimmune disorder that is triggered by an environmental stimulus in genetically susceptible individuals. The diagnosis of ADEM is based on clinical and radiological features. Most children with ADEM initially present with fever, meningeal signs, and acute encephalopathy. The level of consciousness ranges from lethargy to frank coma. Deep and subcortical white-matter lesions and gray-matter lesions such as thalami and basal ganglia on magnetic resonance imaging (MRI) are associated with ADEM. In a child who presents with signs of encephalitis, bacterial and viral meningitis or encephalitis must be ruled out. Sequential MRI is required to confirm the diagnosis of ADEM, as relapses with the appearance of new lesions on MRI may suggest either multiphasic ADEM or multiple sclerosis (MS). Pediatric MS, defined as onset of MS before the age of 16, is being increasingly recognized. MS is characterized by recurrent episodes of demyelination in the CNS separated in space and time. The McDonald criteria for diagnosis of MS include evidence from MRI and allow the clinician to make a diagnosis of clinically definite MS on the basis of the interval preceding the development of new white matter lesions, even in the absence of new clinical findings. The most important alternative diagnosis to MS is ADEM. At the initial presentation, the 2 disorders cannot be distinguished with certainty. Therefore, prolonged follow-up is needed to establish a diagnosis.

• Journal of Korean Neurosurgical Society
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• 제57권6호
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• pp.396-400
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• 2015

Pediatric stroke is relatively rare but may lead to significant morbidity and mortality. Along with the advance of brain imaging technology and clinical awareness, diagnosis of pediatric stroke is increasing wordwide. Pediatric stroke differs from adults in variable risk factor/etiologies, diverse and nonspecific clinical presentation depending on ages. This review will be discussed pediatric stroke focusing on their clinical presentations, diagnosis and etiologies/risk factors.