• Journal of mucopolysaccharidosis and rare diseases
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• 제2권1호
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• pp.5-7
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• 2016

Mucolipidoses II and III alpha/beta (ML II and ML III) are lysosomal disorders in which the essential mannose-6-phosphate recognition marker is not synthesized onto lysosomal hydrolases and other glycoproteins. The disorders are caused by mutations in GNPTAB, which encodes two of three subunits of the heterohexameric enzyme, N-acetylglucosamine-1-phosphotransferase ML II, recognizable at birth, often causes intrauterine growth impairment and sometimes the prenatal "Pacman" dysplasia. The main postnatal manifestations of ML II include gradual coarsening of neonatally evident craniofacial features, early cessation of statural growth and neuromotor development, dysostosis multiplex and major morbidity by hardening of soft connective tissue about the joints and in the cardiac valves. Fatal outcome occurs often before or in early childhood. ML III with clinical onset rarely detectable before three years of age, progresses slowly with gradual coarsening of the facial features, growth deficiency, dysostosis multiplex, restriction of movement in all joints before or from adolescence, painful gait impairment by prominent hip disease. Cognitive handicap remains minor or absent even in the adult, often wheelchair-bound patient with variable though significantly reduced life expectancy. As yet, there is no cure for individuals affected by these diseases. So, clinical manifestations and conservative treatment is important. This review aimed to highlight the extra-skeletal clinical problems in ML II and III.

• Clinical Pain
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• 제19권2호
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• pp.133-137
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• 2020

Bertolotti's syndrome (BS) is a disease that should be differentiated from low back pain (LBP) in young patients. BS shows an anatomical abnormality in which elongated transverse processes of the last lumbar vertebra articulate or fuse with varying degrees to the sacrum or ilium according to radiologic findings, which is associated with the clinical feature of LBP or radiating pain. In this case report, we describe various clinical features such as a waddling gait with severe foot and triceps surae muscle pain, in addition to the typical symptom of BS such as LBP. We report the various clinical symptoms and treatment progress in this case and review the literature.

• 생물정신의학
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• 제23권2호
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• pp.41-47
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• 2016

Dementia with Lewy bodies (DLB) is the second most common causes of dementia. It can exhibit a variety of clinical symptoms including cognitive decline, cognitive fluctuation, visual hallucinations, parkinsonism, REM sleep behavior disorder, hypersensitivity to neuroleptics and autonomic dysfunctions. Despite more well-known criteria for DLB, there are often misdiagnosis and inappropriate treatment. It gives a lot of clinical burden to the clinician as well as to patients and families. When reducing the misdiagnosis, the burden of all will be reduced. The special concern and solicitation are needed in order not to miss the diagnosis when the cardinal features of DLB may not be volunteered by patients and the caregivers. To control the symptoms, clinicians must find and reduce drugs that can have the negative effects on DLB symptoms. There is limited evidence about specific interventions but available data suggest cholinesterase inhibitors improve the cognitive and behavioral symptoms and menmantine slightly improves the global impression.

• 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.

• Biomolecules & Therapeutics
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• 제32권1호
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• pp.1-12
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• 2024

Adverse drug reactions (ADRs) are an inherent aspect of drug use. While approximately 80% of ADRs are predictable, immune system-mediated ADRs, often unpredictable, are a noteworthy subset. Skin-related ADRs, in particular, are frequently unpredictable. However, the wide spectrum of skin manifestations poses a formidable diagnostic challenge. Comprehending the pathomechanisms underlying ADRs is essential for accurate diagnosis and effective management. The skin, being an active immune organ, plays a pivotal role in ADRs, although the precise cutaneous immunological mechanisms remain elusive. Fortunately, clinical manifestations of skin-related ADRs, irrespective of their severity, are frequently rooted in immunological processes. A comprehensive grasp of ADR morphology can aid in diagnosis. With the continuous development of new pharmaceuticals, it is noteworthy that certain drugs including immune checkpoint inhibitors have gained notoriety for their association with ADRs. This paper offers an overview of immunological mechanisms involved in cutaneous ADRs with a focus on clinical features and frequently implicated drugs.

• Korean Journal of Radiology
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• 제21권8호
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• pp.1007-1017
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• 2020

Objective: The purpose of our study was to investigate the predictive abilities of clinical and computed tomography (CT) features for outcome prediction in patients with coronavirus disease (COVID-19). Materials and Methods: The clinical and CT data of 238 patients with laboratory-confirmed COVID-19 in our two hospitals were retrospectively analyzed. One hundred sixty-six patients (103 males; age 43.8 ± 12.3 years) were allocated in the training cohort and 72 patients (38 males; age 45.1 ± 15.8 years) from another independent hospital were assigned in the validation cohort. The primary composite endpoint was admission to an intensive care unit, use of mechanical ventilation, or death. Univariate and multivariate Cox proportional hazard analyses were performed to identify independent predictors. A nomogram was constructed based on the combination of clinical and CT features, and its prognostic performance was externally tested in the validation group. The predictive value of the combined model was compared with models built on the clinical and radiological attributes alone. Results: Overall, 35 infected patients (21.1%) in the training cohort and 10 patients (13.9%) in the validation cohort experienced adverse outcomes. Underlying comorbidity (hazard ratio [HR], 3.35; 95% confidence interval [CI], 1.67-6.71; p < 0.001), lymphocyte count (HR, 0.12; 95% CI, 0.04-0.38; p < 0.001) and crazy-paving sign (HR, 2.15; 95% CI, 1.03-4.48; p = 0.042) were the independent factors. The nomogram displayed a concordance index (C-index) of 0.82 (95% CI, 0.76-0.88), and its prognostic value was confirmed in the validation cohort with a C-index of 0.89 (95% CI, 0.82-0.96). The combined model provided the best performance over the clinical or radiological model (p < 0.050). Conclusion: Underlying comorbidity, lymphocyte count and crazy-paving sign were independent predictors of adverse outcomes. The prognostic nomogram based on the combination of clinical and CT features could be a useful tool for predicting adverse outcomes of patients with COVID-19.

• 정보처리학회논문지B
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• 제9B권5호
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• pp.625-634
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• 2002

본 논문에서는 베이지안 망을 기초로 불임환자의 임상 데이터에 대한 다양한 분석 실험을 전개하였다. 이 실험을 통해 임신여부에 영향을 주는 요인들간의 상호의존성을 분석해보고, 또 NBN, BAN, GBN 등 제약조건이 다른 다양한 유형의 베이지안 망 분류기들의 분류성능을 서로 비교해보았다. 그리고 우리는 이와 같은 실험을 통해 임신가능여부(Clin)에 직접적인 영향을 미치는 중요한 요인들로 증상(IND), 약물치료법(stimulation), 여성의 나이(FA), 미세조작 난자의 수(ICT), Wallace 사용여부(ETM) 등 5개의 특성들을 가려낼 수 있었고, 이 요인들간의 상호 의존성도 찾아낼 수 있었다. 또 서로 다른 유형의 베이지안 망 분류기들 중에서 요인들간의 상호의존관계를 허용하는 좀 더 일반적인 BAN과 GBN 등이 그렇지 못한 NBN에 비해 상대적으로 더 높은 분류 성능을 보여준다는 것을 확인하였다. 또 결정트리와 k-최근접 이웃과 같은 다른 분류기들과의 성능 비교를 통해, 임상 데이터의 특성상 확률적 표현과 추론에 기초한 베이지안 망 분류기들이 보다 높은 성능을 보여준다는 사실도 확인할 수 있었다. 또 본 논문에서는 클래스 노드의 Markov blanket에 속한 특성들로 특성집합을 축소하는 것을 제안하고, 실험을 통해 이 특성 축소방법이 베이지안 망 분류기들의 성능을 높여 줄 수 있는지 알아보았다.

• 대한한의학원전학회지
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• 제35권1호
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• pp.1-32
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• 2022

Objectives : This paper examines major symptoms representation in COVID-19 patients as groundwork for development of an effective clinical data collection format in Korean Medicine. Methods : Major symptoms representation in COVID-19 related papers published worldwide were collected. Corresponding symptoms in Korean Medicine were then examined, followed by discussion of symptomatic features that require further consideration in regards to a more systematic clinical data collection. Results : Of 256 papers, most papers listed fever and cough while symptoms such as difficulty breathing, diarrhea, muscle pain, headache, nausea, fatigue, chest pain, phlegm, nasal discharge were also mostly listed. Clinical representations could be categorized into general symptoms, throat symptoms, chest symptoms, head and facial symptoms, gastrointestinal symptoms, musculo-skeletal and cutaneous symptoms, psychiatric symptoms and sensory problems. Conclusions : Although each clinical representation could be likened to certain clinical representations of Korean Medicine, the variety of symptoms were too limiting and lacking in detail to be applied in the pattern identification[辨證] of Korean Medicine. For effective clinical data collection and analysis in the future, symptom change according to time, comparison between location, climate and ethnicity, existence of interior symptoms when diagnosing exterior symptoms, deficiency-excessiveness of blood patterns, consciousness levels, etc., need to be considered in establishing criteria for symptom evaluation.

• Journal of Korean Neurosurgical Society
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• 제48권2호
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• pp.119-124
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• 2010

Objective : Disc herniations at the L1-L2 and L2-L3 levels are different from those at lower levels of the lumbar spine with regard to clinical characteristics and surgical outcome. Spinal canals are narrower than those of lower levels, which may compromise multiple spinal nerve roots or conus medullaris. The aim of this study was to evaluate the clinical features and surgical outcomes of upper lumbar disc herniations. Methods : We retrospectively reviewed the clinical features of 41 patients who had undergone surgery for single disc herniations at the L1-L2 and L2-3 levels from 1998 to 2007. The affected levels were L1-L2 in 14 patients and L2-L3 in 27 patients. Presenting symptoms and signs, patient characteristics, radiologic findings, operative methods, and surgical outcomes were investigated. Results : The mean age of patients with upper lumbar disc was 55.5 years (ranged 31 to 78). The mean follow-up period was 16.6 months. Most patients complained of back and buttock pain (38 patients, 92%), and radiating pain in areas such as the anterior or anterolateral aspect of the thigh (32 patients, 78%). Weakness of lower extremities was observed in 16 patients (39%) and sensory disturbance was presented in 19 patients (46%). Only 6 patients (14%) had undergone previous lumbar disc surgery. Discectomy was performed using three methods : unilateral laminectomy in 27 cases, bilateral laminectomy in 3 cases, and the transdural approach in 11 cases, which were performed through total laminectomy in 10 cases and unilateral laminectomy in 1 case. With regard to surgical outcomes, preoperative symptoms improved significantly in 33 patients (80.5%), partially in 7 patients (17%), and were aggravated in 1 patient (2.5%). Conclusion : Clinical features of disc herniations at the L1-L2 and L2-L3 levels were variable, and localized sensory change or pain was rarely demonstrated. In most cases, the discectomy was performed successfully by conventional posterior laminectomy. On the other hand, in large central broad based disc herniation, when the neural elements are severely compromised, the posterior transdural approach could be an alternative.

• Korean Journal of Radiology
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• 제23권12호
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• pp.1281-1289
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• 2022

Objective: Radiomic modeling using multiple regions of interest in MRI of the brain to diagnose juvenile myoclonic epilepsy (JME) has not yet been investigated. This study aimed to develop and validate radiomics prediction models to distinguish patients with JME from healthy controls (HCs), and to evaluate the feasibility of a radiomics approach using MRI for diagnosing JME. Materials and Methods: A total of 97 JME patients (25.6 ± 8.5 years; female, 45.5%) and 32 HCs (28.9 ± 11.4 years; female, 50.0%) were randomly split (7:3 ratio) into a training (n = 90) and a test set (n = 39) group. Radiomic features were extracted from 22 regions of interest in the brain using the T1-weighted MRI based on clinical evidence. Predictive models were trained using seven modeling methods, including a light gradient boosting machine, support vector classifier, random forest, logistic regression, extreme gradient boosting, gradient boosting machine, and decision tree, with radiomics features in the training set. The performance of the models was validated and compared to the test set. The model with the highest area under the receiver operating curve (AUROC) was chosen, and important features in the model were identified. Results: The seven tested radiomics models, including light gradient boosting machine, support vector classifier, random forest, logistic regression, extreme gradient boosting, gradient boosting machine, and decision tree, showed AUROC values of 0.817, 0.807, 0.783, 0.779, 0.767, 0.762, and 0.672, respectively. The light gradient boosting machine with the highest AUROC, albeit without statistically significant differences from the other models in pairwise comparisons, had accuracy, precision, recall, and F1 scores of 0.795, 0.818, 0.931, and 0.871, respectively. Radiomic features, including the putamen and ventral diencephalon, were ranked as the most important for suggesting JME. Conclusion: Radiomic models using MRI were able to differentiate JME from HCs.