• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제18권2호
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• pp.144-148
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• 2015

Hepatocellular adenomas are a benign, focal, hepatic neoplasm that have been divided into four subtypes according to the genetic and pathological features. The ${\beta}$-catenin activated subtype accounts for 10-15% of all hepatocellular adenomas and specific magnetic resonance imaging features have been defined for different hepatocellular adenomas subtypes. The current study aimed to report the magnetic resonance imaging features of a well differentiated hepatocellular carcinoma that developed on the basis of ${\beta}$-catenin activated hepatocellular adenomas in a child. In this case, atypical diffuse steatosis was determined in the lesion. In the literature, diffuse steatosis, which is defined as a feature of the hepatocyte nuclear factor-$1{\alpha}$-inactivated hepatocellular adenomas subtype, has not been previously reported in any ${\beta}$-catenin activated hepatocellular adenomas case. Interlacing magnetic resonance imaging findings between subtypes show that there are still many mysteries about this topic and larger studies are warranted.

• Journal of Computing Science and Engineering
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• 제10권4호
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• pp.111-117
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• 2016

An accurate approach for diagnosis of attention deficit hyperactivity disorder (ADHD) is presented in this paper. The presented technique efficiently classifies three subtypes of ADHD (ADHD-C, ADHD-H, ADHD-I) and typically developing control (TDC) by using only structural magnetic resonance imaging (MRI). The research examines structural MRI of the hippocampus from the ADHD-200 database. Each available MRI has been processed by a region-of-interest (ROI) to build a set of features for further analysis. The presented ADHD diagnostic approach unifies feature selection and classification techniques. The feature selection technique based on the proposed binary-coded genetic algorithm searches for an optimal subset of features extracted from the hippocampus. The classification technique uses a chosen optimal subset of features for accurate classification of three subtypes of ADHD and TDC. In this study, the famous Extreme Learning Machine is used as a classification technique. Experimental results clearly indicate that the presented BCGA-ELM (binary-coded genetic algorithm coupled with Extreme Learning Machine) efficiently classifies TDC and three subtypes of ADHD and outperforms existing techniques.

• Journal of Digestive Cancer Reports
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• 제7권1호
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• pp.18-21
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• 2019

Serine protease inhibitor Kazal-type 1 (SPINK1) is a gene expressed from pancreatic acinar cell which its mutation is known to be associated with chronic pancreatitis (CP) and pancreatic cancer. We report a case of a 47-years-old female with nausea and weight loss with yellow discoloration of skin. Initial imaging and endoscopic study led us to an impression of chronic pancreatitis with pancreatic cancer with common bile-duct dilation. Biopsy result was confirmed with pancreatic adenocarcinoma and additional imaging revealed lymph node and bone metastasis. Our genetic analysis revealed 194+2T>C mutation of SPINK1. Biliary obstruction was successfully decompressed by stent insertion and underwent chemotherapy and radiotherapy. Although there is accumulating evidence of association between SPINK1 mutation and CP, the relationship between SPINK1 mutation and pancreatic cancer in CP patient is an emerging concept. Genetic analysis should be considered in patients with young age especially when diagnosed with both CP and pancreatic cancer.

• Toxicological Research
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• 제21권2호
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• pp.135-140
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• 2005

Although the pathogenesis of cerebral cavernous malformation (CCM) is unknown, a familial predisposition has been recognized, with up to $55\%$ of patients having an affected relatives. Genetic linkage studies have recently mapped a gene causing CCM to a segment of the long arm of chromosome 7 (7q). We report herein a genetic linkage analysis conducted on a Korean three generation family with CCM. It's first report in Korean family. A Korean family in which one member had undergone surgery for ubtracerebrak hematoma (ICH) and confirmed the CCM, was evaluated. They were examined clinically (n=18) and by magnetic resonance (MR) imaging (n=10). Polymorphic markers (D7S1813, D7S1789) spanning the CCM1 locus on 7q were genotyped by the polymerase chain reaction and analysis of linkage was performed in this family (n=17). Six had multiple lesions on brain MR image, one of them being symptomatic, and five were asymptomatic. Seven remaining members were asymptomatic and refused MR image study. One had died of ICH from presumed CCM. Analysis of the pedigree was consistent with an autosomal dominant pattern of inheritance. All affected patients were linked to CCM1. Linkage to CCM1 can account for inheritance of CCM in this family. They had some striking features with a low clinical penetrance and the presence of multiple lesions. These findings have implications for genetic testing of this disorder and represent an important step toward identification of the gene responsible for the pathogenesis of this disease.

• International Journal of Control, Automation, and Systems
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• 제1권3호
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• pp.321-331
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• 2003

Experimental software datasets describing software projects in terms of their complexity and development time have been the subject of intensive modeling. A number of various modeling methodologies and modeling designs have been proposed including such approaches as neural networks, fuzzy, and fuzzy neural network models. In this study, we introduce the concept of the Rule-based fuzzy polynomial neural networks (RFPNN) as a hybrid modeling architecture and discuss its comprehensive design methodology. The development of the RFPNN dwells on the technologies of Computational Intelligence (CI), namely fuzzy sets, neural networks, and genetic algorithms. The architecture of the RFPNN results from a synergistic usage of RFNN and PNN. RFNN contribute to the formation of the premise part of the rule-based structure of the RFPNN. The consequence part of the RFPNN is designed using PNN. We discuss two kinds of RFPNN architectures and propose a comprehensive learning algorithm. In particular, it is shown that this network exhibits a dynamic structure. The experimental results include well-known software data such as the NASA dataset concerning software cost estimation and the one describing software modules of the Medical Imaging System (MIS).

• Parasites, Hosts and Diseases
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• 제60권5호
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• pp.367-370
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• 2022

Fascioliasis is a parasitic infection caused by liver flukes. Although several cases have been reported in Korea, phylogenetic analysis of isolates is lacking. In this study, a 66-year-old woman with right upper quadrant (RUQ) abdominal pain was diagnosed as fascioliasis involving abdominal muscle by imaging study. She received praziquantel treatment, but symptoms were not improved. Lateral movement of the abscess lesion was followed. Trematode parasite was surgically removed from the patient's rectus abdominis muscle. The fluke was identified as Fasciola hepatica based on sequence analysis of 18S rDNA. To determine the phylogenetic position of this Fasciola strain (named Korean Fasciola 1; KF1), the cox1 gene (273 bp) was analyzed and compared with the genes of 17 F. hepatica strains isolated from cows, sheep, goats, and humans from various countries. Phylogenetic analysis showed that KF1 was closely related with the isolates from China goat.

• Journal of Genetic Medicine
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• 제19권1호
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• pp.22-26
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• 2022

Cerebrotendinous xanthomatosis (CTX) is a rare genetic disease caused by a deficiency of enzymes for the synthesis of bile acid, resulting in the accumulation of cholestanol with reduced chenodeoxycholic acid (CDCA) production and causing various symptoms such as chronic diarrhea in infancy, juvenile cataracts in childhood, tendon xanthomas in adolescence and young adulthood, and progressive neurologic dysfunction in adulthood. Because oral CDCA replacement therapy can effectively prevent disease progression, early diagnosis and treatment are critical in CTX. This study reports the case of CTX in a 10-year-old male who presented with Achilles tendon xanthoma and mild intellectual disability. Biochemical testing showed normal cholesterol and sitosterol levels but elevated cholestanol levels. Genetic testing showed compound heterozygous variants of CYP27A1, c.379C>T (p.Arg127Trp), and c.1214G>A (p.Arg405Gln), which confirmed the diagnosis of CTX. The patient had neither cataracts nor other focal neurologic deficits and showed no abnormalities on brain imaging. The patient received oral CDCA replacement therapy without any adverse effects; thereafter, the cholestanol level decreased and no disease progression was noted. The diagnostic possibility of CTX should be considered in patients with tendon xanthoma and normolipidemic conditions to prevent neurological deterioration.

• 대한핵의학회지
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• 제37권1호
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• pp.53-62
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• 2003

After the development of two major techniques - SPECT (Single Photon Emission Computed Tomography) and PET (Positron Emission Tomography) to image the human subjects in a three-dimensional direction in the 1980s, many radiotracers have been used for functional neuroimaging. Still it would be very important study to develop selective radiotracers for functional neuroimaging. New radiotracers will help to expand the knowledge of neurotransmitter systems and of the genetic contribution to receptor or transporter availability. Neurotransmitter depletion-restoration studies, the distribution of brain functions and their modulation by neurotransmitter system aid in better understanding and limiting the side effects of drugs used as well as newly developed. In audition, these radiotracers will be thus very useful to gain a better understanding in biochemical and pharmacological interactions in living human. This review mentions the introduction of radioligands for the functional neuroimaging. Although significant progress has been achieved in the development of new PET and SPECT ligands for in vivo imaging of those receptors and transporters, there are continuous needs of new diagnostic radioligands.

• Journal of Genetic Medicine
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• 제9권2호
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• pp.84-88
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• 2012

Purpose: Neurofibromatosis type 1 (NF1), which is caused by mutations of the NF1 gene, is the most frequent single gene disorder to affect the nervous system. Unidentified bright objects (UBOs) are commonly observed on brain magnetic resonance imaging (MRI) in patients with NF1. However, their clinical and pathologic significance is not well understood. The purpose of this study was to investigate the correlation between UBOs and cerebral glucose metabolism measured by $^{18}F$-2-Fluoro-2-deoxy-D-glucose ($^{18}F$-FDG) positron emission tomography (PET) in Korean patients with NF1. Materials and Methods: Medical records of 75 patients (34 males and 41 females) with NF1 who underwent brain MRI and PET between 2005 and 2011 were evaluated retrospectively. Clinical data including demographics, neurological symptoms, and brain MRI and PET findings, were reviewed. Results: UBOs were detected in the brain MRI scans of 31 patients (41%). The region most frequently affected by UBOs was the basal ganglia. The most frequent brain PET finding was thalamic glucose hypometabolism (45/75, 60%). Of the 31 patients with UBOs, 26 had thalamic glucose hypometabolism on brain PET, but the other 5 had normal brain PET findings. Conversely, of the 45 patients with thalamic glucose hypometabolism on brain PET, 26 showed UBOs on their brain MRI scans, but 19 had normal findings on brain MRI scans. Conclusion: UBOs on brain MRI scans and thalamic glucose hypometabolism on PET appear to be 2 distinctive features of NF1 rather than correlated symptoms. Because the clinical significance of these abnormal imaging findings remains unclear, a longitudinal follow-up study of changes in clinical manifestations and imaging findings is necessary.

• 대한원격탐사학회지
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• 제38권6_1호
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• pp.1101-1107
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• 2022

열화상 카메라를 이용해 식물의 엽온을 측정하는 원격탐사 기법은 농업의 작물 감시 또는 선별에 이용될 수 있는 가능성이 80년대부터 제시되어 왔지만, 그 유용성에 비해 다양한 적용 사례가 적어 제대로 활용되지 못하고 있었다. 하지만, 최근 열화상 카메라 하드웨어 기능의 비약적 발전과 보급에 따라 농업에서의 열화상 카메라 활용이 주목받고 있다. 앞으로의 활용성 증대를 위해 다양한 활용 사례 연구 필요성에 부응하여 본고에서는 석회질 비료를 처리한 벼와 차광조건에서 생육 된 콩의 생리적 변화를 탐지하였고, 내염성 계통 콩에 대해서는 염해 감수성 콩 품종과의 엽온 차이가 선별 가능한 수준임을 보였다. 열화상 카메라의 관측 정확도와 기공 개폐 기반의 분석 기술이 더욱 발전한다면, 스마트팜과 표현체 분석 분야에 활용이 많아질 것으로 기대된다.