• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.2
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• pp.89-97
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• 2013

Purpose: We retrospectively investigated individuals who hadbeen identified by neonatal screening as potential galactosemia patients to determine the etiology of galactosemia. Methods: One hundred fifty-three patients referred to Korea Genetics Research Center due to high galactose level detected by neonatal screening test between February 2005 and May 2013 were examined. Galactose and galactose-1-phosphate levels were measured by using a fluoro metric microplate reader. Lactose free diet was initiated immediately after confirmed by urine Clinitest. If reducing sugar was negative, we employed abdominal sonogram and echocardiogram to check for possible porto-systemic shunt. Results: Fifteen patients were diagnosed with galactosemia. One patient had galactokinase (GALK) deficiency; four had UDP galactose-4-epimerase (GALE) deficiency; two had citrin deficiency; and four had porto-systemic shunt. Two had unknown causes of galactosemia. Conclusion: In addition to genetic defects of GALT, GALK and GALE, citrin deficiency or porto-systemic shunt could also cause galactosemia. It is crucial to carry out differential diagnosis to determine the cause of galactosemia.

• Korean Journal of Bronchoesophagology
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• v.4 no.1
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• pp.59-63
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• 1998

Background： Unilateral vocal cord paralysis(UVCP) by recurrent laryngeal nerve injury is one of the common laryngological diseases. Objectives : We attempted to study the clinical feature and the causes of UVCP and also tried to investigate what is to be the initial approach for determining the causes of unknown-origin UVCP Materials and methods The charts of 82 patients with the diagnosis of UVCP were reviewed. The records were analyzed for patient's gender and age, the status of paralysed vocal cord, the crucial tests for the diagnosis, and the etiologies. Results : forty-nine(59.8%) male and 33(40.2%) female patients were included in this study. The age group of sixth decade was most commonly involved. Most of the cases showed paramedian position of palsy, and the left side(59.8%) was more frequently attacked. The most common cause of UVCP in this series was the unknown origin, followed by the surgical trauma and neoplasms. The etiologies of the six(12.5%) unknown-cause cases were found with the further evaluation, with the most useful test being a CT scan. Conclusion： Chest X-ray, esophagography, and CT scan should be included in the mandatory initial investigation of patients with unknown-origin UVCP

• The Korean Journal of Legal Medicine
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• v.42 no.4
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• pp.126-140
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• 2018

The diagnosis of cause of death (COD) or estimation of postmortem interval (PMI) is hard to perform using postmortem blood or other bodily fluids due to various biochemical changes that occur during the agonal phase or after death. To solve these problems, new paradigms and new analytical methods are needed. In this study, postmortem blood was fractionated with specific gravity 1.021, 1.029, 1.038, and 1.045, and the absorbance patterns of each sample of the 131 total cases (12 kinds of COD) were analyzed using a spectrometer. The absorbance was grouped into 9 patterns (ABS pattern 1 to 9) according to the wave length and the signal intensity. These patterns of postmortem blood were found to be distinctly different from the absorbance pattern of fresh blood. The analysis of ABS patterns is useful for the diagnosis of deaths due to acute or rapid bleeding, fire death, drowning and, in some cases, poisoning, but is not useful for the estimation of PMI.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.32 no.1
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• pp.9-14
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• 2021

Spasmodic dysphonia, essential tremor, and vocal tremor related with Parkinson's disease are different disorders showing fairly similar symptoms such as difficulty in the speech onset, and tremble in the voice. However, the cause and the resulting treatment of these diseases are different. Spasmodic dysphonia is a vocal disorder characterized by spasms of the laryngeal muscles during a speech, invoking broken, tense, forced, and strangled voice patterns. Such difficult-to-treat dysphonia disease is classified as central-origin-focal dystonia, of a yet unknown etiology. Its symptoms arise because of intermittent and involuntary muscle contractions during speech. Essential tremor, on the other hand, is characterized by a rhythmic laryngeal movement, resulting in alterations of rhythmic pitch and loudness during speech or even at rest. Severe cases of tremor may cause speech breaks like those of adductor spasmodic dysphonia. In the case of hyper-functional tension of vocal folds and accompanying tremors, it is necessary to distinguish these disorders from muscular dysfunction. A diversified assessment through the performance of specific speech tasks and a thorough understanding for the identification of the disorder is necessary for accurate diagnosis and effective treatment of patients with vocal tremors.

• Korean journal of aerospace and environmental medicine
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• v.30 no.2
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• pp.66-69
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• 2020

Since allergic rhinitis is a disease with a very high prevalence, it is common to find patients with allergic rhinitis among aviation workers. However, they are so afraid that the report of rhinitis will have a negative effect on the evaluation of one's work suitability. Therefore, aviation medical examiners (AMEs) must be able to accurately understand the nature of allergic rhinitis, and confidently explain that appropriate treatment of rhinitis has a positive effect on their performance. In the treatment of allergic rhinitis, there are some medications that may cause drowsiness, which may impair the accuracy and safety of the aviation service. Therefore, AMEs should accurately know safe drugs that do not cause drowsiness and prescribe them to patients. In addition, it is necessary to know exactly whether air workers may receive the latest treatments for allergic rhinitis, such as surgical treatment and immunotherapy, and be able to recommend these treatments appropriately. Therefore, in this paper, we first briefly describe the pathophysiology, genetics, causative antigen, symptoms, diagnosis, and treatment of allergic rhinitis. We also aimed to discuss safe medication and other treatment modalities for allergic rhinitis.

• Archives of Plastic Surgery
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• v.50 no.2
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• pp.216-219
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• 2023

Neisseria gonorrhoeae is the most common sexually transmitted disease in the world and is known to cause disseminated disease, most commonly tenosynovitis. Classically, gonorrhea-associated tenosynovitis presents with concomitant dermatitis and arthralgias, though this is not always the case. N. gonorrhoeae-related tenosynovitis has become more commonly seen by hand surgeons. To aid in management, we present three cases of gonorrhea-induced tenosynovitis spanning a range of presentations with variable treatments to demonstrate the variety of patients with this disease. Only one of our patients had a positive gonococcal screening test and no patient had purulent urethritis, the most common gonorrhea-related symptom. A separate patient had the classic triad of tenosynovitis, dermatitis, and arthralgias. Two patients underwent operative irrigation and debridement, and one was managed with anti-gonococcal antibiotics alone. Though gonorrhea is a rare cause of flexor tenosynovitis, it must always be on the differential for hand surgeons when they encounter this diagnosis. Taking an appropriate sexual history and performing routine screening tests can assist in the diagnosis, the prescription of appropriate antibiotics, and potentially avoiding an unnecessary operation.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.2
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• pp.72-77
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• 2015

Purpose: Deficits of the respiratory chain are reported to be the major cause of Leigh syndrome is said to be the underlying causes. The need for biochemical diagnosis to draw more accurate diagnosis or prognosis to support treatments is rapidly increasing. This study tried to analyze the aspects of clinical characteristics and biochemical diagnosis of mitochondrial respiratory chain complex (MRC) defect in Leigh syndrome, using methods of biochemical enzyme assay. Methods: We included total number of 47 patients who satisfied the clinical criteria of Leigh syndrome and confirmed by biochemical diagnosis. All those patients went through muscle biopsy to perform biochemical enzyme assay to analyze MRC enzyme in order to find the underlying cause of Leigh syndrome. Results: MRC I defect was seen in 23 (48.9%) cases taking the first place and MRC IV defect in 15 (31.9%) following it. There were 9 (19.2%) cases of combined MRC defect. Combined cases of type I and IV were detected in 7 (14.9%) patients while type I and V in 2 (4.3%). The onset age of symptom was less than 1 year old in 28 (59.6%). The most common early symptom, observed in 23 (48.9%), was delayed development, but there were other various neurological symptoms observed as well. In regard with the disease progression, 35 (74.5%) patients showed slowly progressive course, the one that progressed continuously but slowly over 2 years of period. As for Maximum motor development, 22 (46.8%) were bed-ridden state, most of them suffering serious delayed development. Patients showed various symptoms with different organs involved, though neuromuscular involvement was most prominent. Delayed development was seen in all cases. Multifocal lesion in brain MRI study was seen in 36 (76.6 %) cases, taking a greater percentage than 11 (23.4%) cases with single lesion. In MR spectroscopy study, the characteristic lactate peak of mitochondrial disease was identified in 20 (42.6%) patients. Conclusions: Further analysis of clinical and biochemical diagnosis on more extended group of patients with Leigh syndrome will enable us to improve diagnostic precision and to understand the natural course of mitochondrial disease.

• Nuclear Engineering and Technology
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• v.52 no.9
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• pp.2009-2016
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• 2020

A nuclear power plant is a large complex system with tens of thousands of components. To ensure plant safety, the early and accurate diagnosis of abnormal situations is an important factor. To prevent misdiagnosis, operating procedures provide the anticipated symptoms of abnormal situations. While the more severe emergency situations total less than ten cases and can be diagnosed by dozens of key plant parameters, abnormal situations on the other hand include hundreds of cases and a multitude of parameters that should be considered for diagnosis. The tasks required of operators to select the appropriate operating procedure by monitoring large amounts of information within a limited amount of time can burden operators. This paper aims to develop a system that can, in a short time and with high accuracy, select the appropriate operating procedure and sub-procedure in an abnormal situation. Correspondingly, the proposed model has two levels of prediction to determine the procedure level and the detailed cause of an event. Simulations were conducted to evaluate the developed model, with results demonstrating high levels of performance. The model is expected to reduce the workload of operators in abnormal situations by providing the appropriate procedure to ultimately improve plant safety.

• Advances in pediatric surgery
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• v.5 no.1
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• pp.45-52
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• 1999

Pediatric solid tumors have many histologic similarity. These tumors contained small round cell types, and cause frequent diagnostic problems in pediatric pathology. An important advance in the differentiation of these small round cell tumors has been the identification of consistent chromosomal translocations associated with several types of tumors. Eighteen patients with soft tissue sarcoma were available for review. Seventeen cell lines were also included in this study. The RNA from the specimens were analyzed by reverse transcriptase-polymerase chain reaction (RT-PCR). PAX3-FKHR fusion was present in four of five alveolar rhabdomyosarcoma and PAX7-FKHR fusion was detected in one of five alveolar rhabdomyosarcoma. None of the specimens expressed more than one chimeric transcript. EWS-FLI1 or EWS-ERG fusions were detected in all seven Ewings' sarcoma. No specimens showed EWS-WT1 fusion. These results corresponded well to the histopathologic diagnosis. There were no differences in the histologic appearances of tumors with the more frequent PAX3-FKHR or EWS-FLI1 fusions compared with those containing the variant PAX7-FKHR or EWS-ERG fusions. RT-PCR assay for chimeric transcript is a useful tool for rapid and objective diagnosis of pediatric solid tumors. Through these tools, we can approach genetically to the differential diagnosis of undifferentiated small round tumors.

• Childhood Kidney Diseases
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• v.20 no.2
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• pp.74-78
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• 2016

Purpose: Early diagnosis and treatment of urinary tract infection have been emphasized to prevent renal scarring. If untreated, acute pyelonephritis could cause renal injury, which leads to renal scarring, hypertension, proteinuria, and chronic renal failure. The purpose of this study was to assess risk factors of renal scarring after treatment of acute pyelonephritis (APN). Methods: The medical records of 59 patients admitted at Daegu Fatima Hospital because of APN between March 2008 and April 2015 whose renal cortical defects were confirmed by using initial technetium-99m dimercaptosuccinic acid (DMSA) scans were reviewed retrospectively. We divided 59 patients into 2 groups according to the presence of renal scar and assessed risk factors of renal scar, including sex, age at diagnosis, feeding method, hydronephrosis, bacterial species, vesicoureteral reflux, and vesicoureteral reflux grade. Results: Of 59 patients (41%), 24 showed renal scar on follow-up DMSA scan. No significant differences in sex, hydronephrosis, bacterial species, and fever duration were found between the renal-scarred and non-scarred groups. As for age at diagnosis, age of >12 months had 5.8 times higher incidence rate of renal scarring. Vesicoureteral reflux (VUR) affected renal scar formation. VUR grade III or IV had 14.7 times greater influence on renal scar formation than VUR grade I or II. Conclusion: Our data suggest that the presence of VUR and its grade and age at diagnosis are risk factors of renal scar on follow-up DMSA scan after APN.