• Journal of the Korean Geophysical Society
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• v.8 no.1
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• pp.1-6
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• 2005

Defects of dam body which can be induced in seepage or leakage procedure can directly affect dam safety. Therefore, a proper inspection method should be carried out in the first place to find out their positions and sizes. After that, some reinforcement works such as grouting and the corresponding assessment could be taken in a proper way. The dam(center core type earth dam) issued in this study has been in need for intensive diagnosis and reinforcement work, because a lot of slumps similar to cracks, seepage and some boggy area have been observed on the downstream slope. High resolution seismic reflection method was performed on the crest profile twice before and after grouting work(Aug. 2001 and Nov. 2004) aimed at the dam inspection and the assessment of grouting efficiency as well. To enhance the data resolution, P-beam energy radiation technique which can reduce the surface waves and hence to reinforce the reflection events was used. Strong reflection events were recognized in the stack section before grouting work, It seems that the events would be caused by e.g. horizontal cracks with a considerable aperture. Meanwhile such strong reflection events were not observed in the section after grouting. That is, the grouting work was dear able to reinforce the defects of dam body. Hence, the section showed an well arranged picture of dam inner structure. In this sense, seismic reflection method will be a desirable technique for dam inspection and for monitoring dam inner structure as well.

• Clinical and Experimental Pediatrics
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• v.64 no.10
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• pp.504-510
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• 2021

Population screening of newborns is an extremely important and informative diagnostic approach that allows early identification of babies who are predisposed to the development of a number of serious diseases. Some of these diseases are known and have effective treatment methods. Neonatal screening enables the early diagnosis and subsequent timely initiation of therapy. This helps to prevent serious complications and reduce the percentage of disability and deaths among newborns and young children. Primary immunodeficiency diseases and primary immunodeficiency syndrome (PIDS) are a heterogeneous group of diseases and conditions based on impaired immune system function associated with developmental defects and characterized by various combinations of recurrent infections, development of autoimmune and lymphoproliferative syndromes (genetic defects in apoptosis, gene mutation Fas receptor or ligand), granulomatous process, and malignant neoplasms. Most of these diseases manifest in infancy and lead to serious illness, disability, and high mortality rates. Until recently, it was impossible to identify children with PIDS before the onset of the first clinical symptoms, which are usually accompanied by complications in the form of severe coinfections of a viral-bacterial-fungal etiology. Modern advances in medical laboratory technology have allowed the identification of children with severe PIDS, manifested by T- and/or B-cell lymphopenia and other disorders of the immune system. This review discusses the main existing strategies and directions used in PIDS screening programs for newborns, including approaches to screening based on excision of T-cell receptors and kappa-recombination excision circles, as well as the potential role and place of next-generation sequencing technology to increase the diagnostic accuracy of these diseases.

• Journal of Korean Tunnelling and Underground Space Association
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• v.24 no.1
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• pp.109-128
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• 2022

The precise inspection for safety and diagnosis (PISD) of tunnel has been conducted by the special act on safety control of public structures. However, the present assessment for the segmental lining of TBM tunnel has limitation such as: NDTs for integrity, segmental configuration for field inspection, and consideration for jacking system. Even if the number of TBM tunnel is less than 1% of enrolled facility in FMS, more attention to maintenance should be necessary due to its usage such as multi-use facility and national important facility. Compared to NATM tunnel, excavated by drilling and blasting and then installed lining by cast-in-place within 6~12 m, TBM tunnel is cut out ground by disk and cutter-bit and then assembled 7 pieces of precast segment, 1.2~1.4 m wide. Different features of design, construction, and maintenance should be considered to be more exact evaluation of TBM tunnel. The characteristics of defect is categorized and analyzed with 11 operational TBM tunnels in domestic subway. To be more comprehend various particular defects, foreign studies have been also adapted. Crack and leakage are categorized in 7 patterns. Breakage/spalling and corrosion are also grouped into 3 patterns. Patterned defects or damages are fed back in design, construction, and are useful guidelines for maintenance stage in future.

• Journal of Life Science
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• v.33 no.5
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• pp.429-435
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• 2023

Epidemiological studies suggest that maternal infection, maternal stress, and environmental risk factors during pregnancy increase the risk of brain development abnormalities associated with cognitive impairment in the offspring and increase susceptibility to schizophrenia and autism spectrum disorder. Several animal models have demonstrated that maternal immune activation (MIA) is sufficient to induce abnormal brain development and behavioral defects in the fetus. When polyinosine:polycytodylic acid (poly I:C) or lipopolysaccharide (LPS), which is commonly used in maternal immune activation animal models, was introduced into a pregnant dam, an increase in pro-inflammatory cytokines and microglial activity was observed in the offspring's brain. Microglia are brain-resident immune cells that play a mediating role in the central nervous system, and they are responsible for various functions, such as phagocytosis, synapse formation and branching, and angiogenesis. Several studies have reported that microglia are activated in MIA offspring and influence offspring behavior through interactions with various cytokines. In addition, it has been reported that they play an important role in brain circuits through interactions with neurons and astrocytes. However, there is controversy concerning whether microglia are essential to brain development or lead to behavioral defects, and the exact mechanism remains unknown. Therefore, for the potential diagnosis and treatment of brain developmental disorders, a functional study of microglia should be conducted using MIA animal models.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.1
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• pp.1-12
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• 2018

Purpose: Disorders of organic acid metabolism have various clinical manifestations and it may be life-threatening. The prognoses of affected children are dependent on early diagnosis and treatment. We report this study to find out detection rate of referred samples, clinical manifestations and age distribution after introduction of neonatal screening test using tandem mass spectrometry in Hallym University Chuncheon Sacred Heart Hospital during 8 years and 9 months. Methods: The 2,794 patients referred from Jan. 2007 to Sep. 2015 were divided into four groups according to age. We conducted organic acid analysis of urine samples of patients and analyzed clinical manifestations and distributions of age at the diagnosis. For patients with ambiguous results, reanalysis of urine organic acid after diet restriction, protein loading and restriction, has been done. Results: A total of 626 patients with 20 disorders were diagnosed. Mitochondrial disorders (482 patients) were the most common diagnosis, followed by ketolytic defects (67), 3-hydroxyisobutyric aciduria (32), EPEMA syndrome (8), 3-methylcrotonyl glycinuria (7), glutaric aciduria type II (6) and type I (4), methylmalonic aciduria (3), isovaleric aciduria (3) and medium chain acyl-CoA dehydrogenase deficiency (3). Conclusion: As neonatal screening test using tandem mass spectrometry is increasingly common and medical environment is changed, detection rate of disorders of organic acid metabolism in this study has decreased compared to previous report. Because the deterioration can be prevented by early diagnosis and treatment, many pediatricians have to pay special attention to possibility of the disorders and make an effort for early diagnosis in clinical setting.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.34 no.6
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• pp.622-627
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• 2008

In orthognathic surgery, precise analysis and diagnosis are essential for successful results. In facial asymmetric patient, traditional 2D image analysis has been used by lateral and P-A Cephalometric view, Skull PA, Panorama, Submentovertex view etc. But clinicians sometimes misdiagnose because they cannot find exact landmark due to superimposition, moreover image can be magnified and distorted by projection technique or patient's skull position, when using these analysis and method. For overcome these defects, analysis by using of 3D CT has been introduced. In this way we can analysis precisely by getting the exact image free of artifact and finding exact landmark with no interruption of superimposition. So we want to review of relationship between various skeletal landmarks of mandible or cranial base and facial asymmetry by predictable analysis using 3D CT. We select the cases of the patients who visited our department for correction of facial asymmetry during 2003-2007 and who were taken image of 3D CT for diagnosis. 3D CT images were reconstructed to 3D image by using V-Work program (Cybermed Inc., Seoul, Korea). And we analysis the relationship between facial asymmetry and various affecting factor of skeletal pattern. The mandibular ramus hight difference between right and left was most affecting factor that express facial asymmetry. And in this research, there was no relationship between cranial base and facial asymmetry. The angulation between facial midline and mandibular ramus divergency has significant relationship with facial asymmetry

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.49-52
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• 2016

X-linked agammaglobulinemia (XLA) is a hereditary humoral immunodeficiency that results from Bruton's tyrosine kinase (BTK ) gene mutations. These mutations cause defects in B-cell development, resulting in the virtual absence of these lymphocytes from the peripheral circulation. Consequently, this absence leads to a profound deficiency of lg all isotypes, and an increased susceptibility to encapsulated bacterial infections. A 15-month-old Korean boy presented with recurrent sinusitis and otitis media after 6 months of age, and had a family history of 2 maternal uncles with XLA. Laboratory tests revealed a profound deficiency of Ig isotypes, and a decreased count of $CD19^+$ B cells in the peripheral circulation. Based on his family history and our laboratory test results, he was diagnosed with XLA. We performed BTK gene analysis of peripheral blood samples obtained from family members to confirm the diagnosis. Mutational analysis revealed a novel hemizygous frameshift mutation (c.82delC, p.Arg28Alafs*5), in the BTK gene. His mother and maternal grandmother were heterozygous carriers of this mutation and his two maternal uncles were hemizygous at the same position. After XLA diagnosis, intravenous immunoglobulin (400 mg/kg, monthly) treatment was initiated; recurrent sinusitis and otitis media were subsequently brought under control. To our knowledge, this is the first reported case of a Korean pedigree with a novel mutation in the BTK gene.

• Journal of Chest Surgery
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• v.39 no.2 s.259
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• pp.154-156
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• 2006

Inferior sinus venosus ASD (atrial septal defect) is a rare congenital cardiac deformity, that occurs on between the inferior vena cava and right atrium. Diagnosis of inferior sinus venosus ASD is difficult because of its infero-posterior location of the fossa ovalis. Therefor, exact anatomical diagnosis by preoperative and intraoperative transesophageal echocardiography is necessary at preoperation and during the operation. We present a case of residual ASD, which was diagnosed secundum ASD and repaired when the patient was 10 years old. Residual ASD was diagnosed by cardiac echocardiography in preparation of otorhinolaryngology operation. Therefore, reoperation of residual ASD was done when the patient was 24 years old. The patient had secundum ASD and inferior sinus venosus ASD, but in the prior operation, inferior sinus venosus ASD wasn't found and only secundum ASD was repaired. In reoperation, inferior sinus venosus ASD was reveled and patch closure was done.

• Journal of the Korea institute for structural maintenance and inspection
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• v.22 no.6
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• pp.197-205
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• 2018

Recently, remodeling is increasing due to aging of buildings. Therefore, the importance of quality control of structures has been raised, and interest in safety diagnosis and evaluation of structures has been increasing. In order to accurately diagnose old buildings, a diagnostic evaluation technique is needed to evaluate the defects of structures in advance. In addition, as the safety diagnostic criteria for reconstruction are improved and the weight of structural safety is increased, researches on safety diagnosis techniques of structures that are faster and more reliable are needed. In this study, we tried to estimate the compressive strength by examining the correlation between ultrasonic pulse velocity and compressive strength of a 1 story structure consisting of vertical and horizontal members of reinforced concrete using ultrasonic pulse velocity method, which is one of the nondestructive testing methods. The purpose of this study is to examine the applicability in the field. As a result, the estimated average error rate of the compressive strength of the structure using the ultrasonic pulse velocity method was 28.7%, which confirmed the applicability in the field. However, in order to increase the accuracy of the estimation, the necessity of the reliable diagnostic method using the composite nondestructive testing method was confirmed.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.24 no.1
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• pp.1-9
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• 2024

Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like episode (MELAS) is a rare maternally inherited disorder primarily caused by mutations in mitochondrial DNA, notably the m.3243A>G mutation in the MT-TL1 gene. This mutation impairs mitochondrial function crucial for cellular energy production, particularly in high-energy-demanding organs such as the brain and muscles. MELAS manifests as recurrent stroke-like episodes, seizures, diabetes mellitus, cardiomyopathy, and other multisystemic symptoms that are often present in childhood. The diagnosis combines genetic testing, clinical evaluation, and neuroimaging, with elevated lactate levels and characteristic magnetic resonance imaging (MRI) findings as key indicators. Treatment focuses on symptomatic management and enhancement of mitochondrial function through L-arginine, coenzyme Q10, high-dose vitamins, and taurine supplementation. Studies have identified additional genetic variants linked to MELAS, including mutations in POLG and other mitochondrial genes, further complicating the genetic landscape. Emerging therapies, particularly gene therapy and mitochondria-targeting drugs, offer promising avenues for addressing the underlying genetic defects and improving mitochondrial functioning. Furthermore, ongoing studies continue to enhance our understanding and management of MELAS, with the aim of reducing its burden and improving patient outcomes and quality of life. This review summarizes the current knowledge on the genetics, clinical features, diagnosis, and treatment of MELAS, highlighting the latest advancements and future directions for therapeutic interventions.