• Neonatal Medicine
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• v.28 no.2
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• pp.89-93
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• 2021

Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy has the worst prognosis, primarily due to respiratory failure. Several genes associated with nemaline myopathy have been identified, including NEB, ACTA1, TPM3, TPM2, TNNT1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, and KBTBD13. Here, we report a neonatal Korean female patient with nemaline myopathy carrying compound heterozygous mutations in the gene KLHL40 as revealed using next generation sequencing (NGS). The patient presented with postnatal cyanosis, respiratory failure, dysphagia, and hypotonia just after birth. To identify the genetic cause underlying the neonatal myopathy, NGS-based gene panel sequencing was performed. Compound heterozygous pathogenic variants were detected in KLHL40: c.[1405G>T];[1582G>A] (p. [Gly469cys];[Glu528Lys]). NGS allows quick and accurate diagnosis at a lower cost compared to traditional serial single gene sequencing, which is greatly advantageous in genetically heterogeneous disorders such as myopathies. Rapid diagnosis will facilitate efficient and timely genetic counseling, prediction of disease prognosis, and establishment of treatments.

• Journal of Chest Surgery
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• v.44 no.6
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• pp.418-422
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• 2011

Background: It has recently become most general to use the small bore catheter to perform closed thoracostomy in treating iatrogenic pneumothorax. This study was performed for analysis of the efficacy of treatment methods by using small bore catheter such as 7 F (French) central venous catheter, 10 F trocar catheter, 12 F pigtail catheter and for analysis of the appropriateness of each procedure. Materials and Methods: From March 2007 to February 2010, Retrospective review of 105 patients with iatrogenic pneumothorax, who underwent closed thoracostomy by using small bore catheter, was performed. We analyzed the total success rate for all procedures as well as the individual success rate for each procedure, and analyzed the cause of failure, additional treatment method for failure, influential factors of treatment outcome, and complications. Results: The most common causes of iatrogenic pneumothorax were presented as percutaneous needle aspiration(PCNA) in 48 cases (45.7%), and central venous catheterization in 26 cases (24.8%). The mean interval to thoracostomy after the procedure was measured as 5.2 hours (1~34 hours). Total success rate of thoracostomy was 78.1%. The success rate was not significantly difference by tube type, with 7 F central venous catheter as 80%, 10 F trocar catheter as 81.6%, and 12 F pigtail catheter as 71%. Twenty one out of 23 patients that had failed with small bore catheter treatment added large bore conventional thoracostomy, and another 2 patients received surgery. The causes for treatment failure were presented as continuous air leakage in 12 cases (52.2%) and tube malfunction in 7 cases (30%). The causes for failure did not present significant differences by tube type. Statistically significant factors affecting treatment performance were not discovered. Conclusion: Closed thoracostomy with small bore catheter proved to be effective for iatrogenic pneumothorax. The success rate was not difference for each type. However, it is important to select the appropriate catheter by considering the patient status, pneumothorax aspect, and medical personnel in the cardiothoracic surgery department of the relevant hospital.

• Tuberculosis and Respiratory Diseases
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• v.63 no.5
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• pp.435-439
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• 2007

Standard antituberculous therapy, including isoniazid (INH), rifampin, ethambutol, and pyrazinamide (PZA), is widely used to treat active tuberculosis. The most important side effect is hepatotoxicity. In a standard four-drug regimen, PZA was the most common cause of drug-induced hepatitis and was dose-related. The incidence of drug-induced hepatitis is high at doses of 40~70 mg/kg per day but has fallen significantly since the recommended dose was reduced. Liver toxicity induced by PZA is rare at doses of 25 mg/kg per day or less. PZA-induced fulminant hepatic failure is also rare but fatal. We report a case of fulminant hepatic failure caused by a re-challenge of PZA.

• Journal of Practical Agriculture & Fisheries Research
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• v.22 no.1
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• pp.79-85
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• 2020

The current study is the first paper on FPT(failure of passive transfer) of horse population in Korea. The object of this study was to comparison of immune status normal and patient horses. Failure of passive transfer is the most common immunodeficiency disorder of horses. Twenty-two foals and 18 horses from Jeju of the equine hospital were diagnosed with the SNAP Foal IgG Test Kit. All adult horses had normal immune functions (≥800 mg/dl). Thirteen of the 22 newborn babies (59%; ∠800 mg/dl) had a weak immune function but recovered and survived after treatment. Nine of these 22 are horses with strong immunity (≥800 mg/dl), indicating that high IgG concentrations in the blood can cause infectious diseases. There were a total of six dead, four of which were infectious diseases. In addition, early identification of infectious diseases in newborn foals is expected to help prepare systematic health management measures for the development of the disease.

• Journal of Physiology & Pathology in Korean Medicine
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• v.17 no.2
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• pp.580-584
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• 2003

Diabetic Nephropathy is one of the major causes of chronic renal failure. It is a common microvascular complication and clinically defined as the presence of persistent Proteinuria. We studied the effects and change of the renal function of Complex Herbal medication of the 20Diabetic Nephropathy patients. We measured the initial levels of Total Protein, Creatinine Clearance Rate(Ccr), Serum Creatinine(Serum-Cr), Urine Creatinine(Urine-Cr) and HbA1C on admission and followed up the level changes of Total Protein, Ccr, Serum-Cr and Urine-Cr on discharge. The results are following : Complex Herbal Medication does not cause the renal toxicity. The longer hypertension period is, the higher Serum-Cr level and Urine-Cr level. In an older age group, Urine-Cr is lower. 4.From the 'Deficiency in Origin and Excess in Superficiality(本虛表實)'points of view, Complex Herbal Medication improves the Serum-Cr in Diabetic Nephropathy patients. According to this results, it could be suggested that Complex Herbal Medication does not cause the renal toxicity in Diabetic Nephropathy patients and intensive controls of blood sugar, blood pressure and Complex Herbal Medication prevent the renal failure in Diabetic Nephropathy patients with early stage of Microalbumiuria.

• Journal of Chest Surgery
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• v.16 no.2
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• pp.175-183
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• 1983

Ventricular aneurysm which was first described by John Hunter on 18th century, has been experienced by many surgeons after successful using of cardiopulmonary bypass by Cooley on 1958. According to Gorlin, the definition of ventricular aneyrysm is portion of the ventricle which is not motile at systole (akinesis) or which has paradoxical dilatation at systole(dyskinesis). The ventricular aneurysm is classified to anatomical and functional. The anatomical ventricular aneurysm is devided into true or false again. Average age incidence is ranged from 49 to 60 and male predominance is reported. The cause is ischemic coronary artery disease in almost cases but hypertropoc cardiomyopathy, congenital abscence of myocardium, complication after mitral valvular replacement and trauma may also cause the ventricular aneurysm. Angina pectoris and congestive heart failure are most common clinical manifestations Ventricular tachycardia and systemic embolization are also complained. Using cardiopulmonary bypass, aneurysmectomy alone or combination with coronary artery revasculization are currently done for surgical treatment with steady improvenment of mortality. The first patient was 33 years old man who had true type of ventricular aneurysm on inferior wall the left ventricle near apex with protruded huge organized thrombus. The thromboembolic phenomenon was noted on both lower extremities. Under cardiopulmonary bypass, aneurysmectomy and thrombectomy were done. The aneurysmal orifice was repaired with Teflon buttless suture. The second patient was 30 years old female who had large true type of ventricular aneurysm on inferior wall of the left ventricle. Under cardiopulmonary bypass, aneurysmectomy with repair of aneurysmmal orifice defect by means of double layered Dacron patch was done with reinforce by outer silastic sheet covering. She was discharged from hospoital at post op. 15th day uneventfully.

• Journal of Chest Surgery
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• v.31 no.8
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• pp.770-775
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• 1998

Background: Atrial septal defect (ASD) is the most common congenital cardiac anomaly, accounting for 30 percent of congenital heart disease detected in the adult. Many patients with ASD are well tolerated and reach adult without significant symptoms. The patients with ASD die 4th and 5th decades, but prolonged survival is not uncommon. In general, the survival depends on whether pulmonary hypertension develops during adulthood or not. The most common cause of death in the patients with ASD is right ventricular failure or arrhythmias. Materials and methods: From January 1988 to June 1997, 33 cases of ASD underwent open heart surgeries in our hospital. Among them, 31 cases were adult ASD, and 2 tricuspid regurgitation, 1 pulmonic stenosis, 1 mitral regurgitation, 1 tricuspid regurgitation, and 1 coronary artery disease were combinded. All of the patients underwent surgical repair using autologus pericardial patch or direct closure. Results: The postoperative course was smooth and uneventful. Most of the patients showed significant improvement in ECG finding, hemodynamic profile, radiologic finding, and echocardiography, after surgery. Conclusions: Conclusively, most of the ASD should be closed even in patients over the age of 60 years, and early surgical repair must be done to prevent pulmonary hypertension, right ventricular failure, and arrythmias.

• Clinical and Experimental Pediatrics
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• v.53 no.10
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• pp.863-871
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• 2010

The prevalence of pediatric obstructive sleep apnea syndrome (OSAS) is approximately 3% in children. Adenotonsillar hypertrophy is the most common cause of OSAS in children, and obesity, hypotonic neuromuscular diseases, and craniofacial anomalies are other major risk factors. Snoring is the most common presenting complaint in children with OSAS, but the clinical presentation varies according to age. Agitated sleep with frequent postural changes, excessive sweating, or abnormal sleep positions such as hyperextension of neck or abnormal prone position may suggest a sleep-disordered breathing. Night terror, sleepwalking, and enuresis are frequently associated, during slow-wave sleep, with sleep-disordered breathing. Excessive daytime sleepiness becomes apparent in older children, whereas hyperactivity or inattention is usually predominant in younger children. Morning headache and poor appetite may also be present. As the cortical arousal threshold is higher in children, arousals are not easily developed and their sleep architectures are usually more conserved than those of adults. Untreated OSAS in children may result in various problems such as cognitive deficits, attention deficit/hyperactivity disorder, poor academic achievement, and emotional instability. Mild pulmonary hypertension is not uncommon. Rarely, cardiovascular complications such as cor pulmonale, heart failure, and systemic hypertension may develop in untreated cases. Failure to thrive and delayed development are serious problems in younger children with OSAS. Diagnosis of pediatric OSAS should be based on snoring, relevant history of sleep disruption, findings of any narrow or collapsible portions of upper airway, and confirmed by polysomnography. Early diagnosis of pediatric OSAS is critical to prevent complications with appropriate interventions.

• The Korean Journal of Pain
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• v.18 no.2
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• pp.251-254
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• 2005

Spondylolysis, also known as stress injury of pars interarticularis, is a common cause of back pain in athletes, particularly children and young adults. Repeated minor traumas during flexion and extension of the spine are thought to result in bony failure due to excessive bone resorption. These lesions are common in the low back, with the majority found at the L5 vertebra. In the majority of cases of spondylolysis, non-operative treatments are recommended, such as NSAIDs, physiotherapy and bracing. Only if symptoms do not respond to conservative treatments should surgical intervention be considered. Recently, pars interarticularis injections for diagnostic and therapeutic purposes have been found to allow significant pain relief from spondylolysis for long periods. Here, the case of a 57-year-old man with spondylolysis, who suffered from back pain, which was not relieved by an epidural steroid injection, but in whom pars interarticularis injections of local anesthetic and steroid induced complete transient pain relief, following by moderate long-term relief, is presented.

• The Journal of the Korean dental association
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• v.38 no.6 s.373
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• pp.558-566
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• 2000

Osseointegrated dental implants have now become and accepted form of treatment for patients with a fully or partially missing dentition. The purpose of this study was to evaluate the performance of AVANA implant-Korea. A total of 323 AVANA implants were placed at 9 centers in the edentulous and partially edentulous jaws of 88 consecutive patients ranging in age form 18 to 79 years. So we get the clinical results. 1. Both patients (94.4%) & doctors (94%) were satisfied with the results, in patient's aspect 'most satisfaction' case were more common(52%) 2. The length of fixture which was frequently used was 13mm (168/319,44.5%) followed by 15mm and 10mm, and 3.75mm width implant (239/319,74.9%) was the most popularly used. 3. Mandibutar posterior was the most common installation site (140/317.43%) 4. A mean implant survival rate was 96.2%. That showed little difference which reported other paper. Cause of failure consisted of inflammation $ infection-36%, fall of osseointegration-18%, paln during masticatory function-9%. improper prosthetic function $ procedure-9%. 5. The most popularly used types of abutment was the UCLA abutment(168/305,55.5%)