• Journal of Yeungnam Medical Science
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• v.39 no.2
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• pp.161-167
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• 2022

Congenital web formations are extremely rare anomalies of the extrahepatic biliary tree. We herein report a case of common bile duct septum combined with multiple intrahepatic bile duct strictures in a 74-year-old female patient who was successfully treated with radiological intervention. The patient initially visited the hospital because of upper abdominal pain. Imaging studies revealed multifocal strictures with dilatation in both intra- and extrahepatic ducts; the final clinical diagnosis was congenital common bile duct web combined with multiple intrahepatic duct strictures. Surgical treatment was not indicated because multiple biliary strictures were untreatable, and the disease was clinically diagnosed as benign. The multiple strictures were extensively dilated twice through bilateral percutaneous transhepatic biliary drainage (PTBD) for 2 months. After 1 month of observation, PTBD catheters were successfully removed. The patient is doing well at 6 months after completion of the radiological intervention, with the maintenance of normal liver function. Congenital web of the bile duct is very rare, and its treatment may vary depending on the patterns of biliary stenosis. In cases where surgical intervention is not indicated for congenital web and its associated disease, radiological intervention with balloon dilatation can be a viable therapeutic option.

• Archives of Craniofacial Surgery
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• v.24 no.4
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• pp.145-158
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• 2023

Vascular anomalies encompass a variety of malformations and tumors that can result in severe morbidity and mortality in both adults and children. Advances have been made in the classification and diagnosis of these anomalies, with the International Society for the Study of Vascular Anomalies establishing a widely recognized classification system. In recent years, notable progress has been made in genetic testing and imaging techniques, enhancing our ability to diagnose these conditions. The increasing sophistication of genetic testing has facilitated the identification of specific genetic mutations that help treatment decisions. Furthermore, imaging techniques such as magnetic resonance imaging and computed tomography have greatly improved our capacity to visualize and detect vascular abnormalities, enabling more accurate diagnoses. When considering reconstructive surgery for facial vascular anomalies, it is important to consider both functional and cosmetic results of the procedure. Therefore, a comprehensive multidisciplinary approach involving specialists from dermatology, radiology, and genetics is often required to ensure effective management of these conditions. Overall, the treatment approach for facial vascular anomalies depends on the type, size, location, and severity of the anomaly. A thorough evaluation by a team of specialists can determine the most appropriate and effective treatment plan.

• Childhood Kidney Diseases
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• v.26 no.2
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• pp.80-85
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• 2022

Purpose: To determine the prevalence, clinical manifestations, and outcomes of renal involvements in pediatric Alagille syndrome (ALGS). Methods: A total of 21 patients diagnosed with ALGS at age under 18 years who visited Samsung Medical Center from March 1999 to March 2022 were enrolled. ALGS was diagnosed either by clinical manifestations, targeted JAG1 sequencing, and/or liver biopsy. Medical records including sex, age, renal manifestations, urinalysis, serum creatinine, JAG1 sequencing, and ultrasonography were retrospectively reviewed. Results: The male to female ratio was 9:12. The mean age of patients at confirmative diagnosis of ALGS was 18.4 months. Sanger sequencing was performed for 17 patients. Sixteen of 21 patients (76.1%) showed JAG1 mutations. Renal involvement was found in 10 patients (47.6%). The most common type of anomaly was renal dysplasia (40%). One patient having renal dysplasia was pathologically confirmed with glomerular lipid deposition. Two patients (20%) manifested nephrocalcinosis/nephrolithiasis. Among eight renal-involved patients who survived, four (50%) progressed to chronic kidney disease stage 3. Two of these chronic kidney disease patients were diagnosed with hepatorenal syndrome. The other four patients had renal functions preserved, including two without any interventions and two who underwent urological interventions. Conclusions: The current study revealed a high prevalence of renal involvement in Korean pediatric ALGS with diverse phenotypes.

• Journal of applied mathematics & informatics
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• v.41 no.6
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• pp.1257-1274
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• 2023

Rotating machines heavily rely on an intricate network of interconnected sub-components, with bearing failures accounting for a substantial proportion (40% to 90%) of all such failures. To address this issue, intelligent algorithms have been developed to evaluate vibrational signals and accurately detect faults, thereby reducing the reliance on expert knowledge and lowering maintenance costs. Within the field of machine learning, Artificial Immune Systems (AIS) have exhibited notable potential, with applications ranging from malware detection in computer systems to fault detection in bearings, which is the primary focus of this study. In pursuit of this objective, we propose a novel procedure for detecting novel instances of anomalies in varying operating conditions, utilizing only the signals derived from the healthy state of the analyzed machine. Our approach incorporates AIS augmented by Dynamic Time Warping (DTW). The experimental outcomes demonstrate that the AIS-DTW method yields a considerable improvement in anomaly detection rates (up to 53.83%) compared to the conventional AIS. In summary, our findings indicate that our method represents a significant advancement in enhancing the resilience of AIS-based novelty detection, thereby bolstering the reliability of rotating machines and reducing the need for expertise in bearing fault detection.

• Childhood Kidney Diseases
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• v.7 no.1
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• pp.52-59
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• 2003

Purpose : The renin-angiotensin system(RAS) plays an important role in renal growth and development. We have studied the prevalence of renal anomalies and documented the association between karyotype and renal anomalies using IVP and ultrasonography. Furthermore, to investigate the impact of RAS gene polymorphism on renal anomaly in Turner syndrome, we examined the ACE I/D genotype, angiotensinogen(AGT) gene M235T, angiotensin receptor type 1(ATR) gene A1166C. Methods : Cytogenetic analysis was performed in 33 Turner syndrome patients on peripheral blood lymphocytes. Ultrasonography(US) of the kidneys and collecting system and intravenous pyelography(IVP) were perfomed in all patients. Nuclear scintigraphy{Tc 99m dimercaptosuccinic acid(DMSA) scan} was also performed for the definite renal diagnosis if indicated. And, ACE I/D genotype, angiotensinogen(AGT) gene M235T, angiotensin receptor type 1(ATR) gene A1166C were examined by PCR amplification of genomic DNA samples. Results : The prevalence of renal anolmalies in Turner syndrome was 36.4%(12/33). The Karyotype 45, X was observed in 18 of the 33 girls(54.5%), of whom 8(44.4%) had renal anomalies. Mosaic karyotypes were observed in 11(33.3%) and four(12.2%) had a non-mosaic structural aberration of the X chromosome. In this group 4(25.7%) had renal anomalies. More renal anomalies were associated with the 45, X karyotype than those with mosaic/structural abnormalities of X chromosome, but the difference was not statistically significant(P>0.05). And, there was no significant differences in the RAS gene polymorphism and allele frequencies between renal anomaly group and normal group in Turner syndrome. Conclusion : The prevalence of renal anolmalies in Turner syndrome was 36.4%. There is no significant differences in the RAS gene polymorphism and allele frequencies between the renal anomaly group and the normal group in Turner syndrome.

• Journal of Navigation and Port Research
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• v.46 no.4
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• pp.367-374
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• 2022

The purpose of this study was to propose a deep learning algorithm that applies to the fault diagnosis of fuel pumps and purifiers of autonomous ships. A deep learning algorithm reflecting the time dependence of the measured signal was configured, and the failure pattern was trained using the vibration signal, measured in the equipment's regular operation and failure state. Considering the sequential time-dependence of deterioration implied in the vibration signal, this study adopts Conv1D with sliding window computation for fault detection. The time dependence was also reflected, by transferring the measured signal from two-dimensional to three-dimensional. Additionally, the optimal values of the hyper-parameters of the Conv1D model were determined, using the grid search technique. Finally, the results show that the proposed data preprocessing method as well as the Conv1D model, can reflect the sequential dependency between the fault and its effect on the measured signal, and appropriately perform anomaly as well as failure detection, of the equipment chosen for application.

• Journal of Chest Surgery
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• v.39 no.1 s.258
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• pp.18-27
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• 2006

Background: Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital anomaly, but is one of the most common causes of myocardial ischemia which would result in high mortality within the first year of life. This is our early result of the surgical management for these patients. Material and Method: From June 1989 to July 2003, 6 patients with ALCAPA and one patient with ARCAPA (Anomalous origin of the Right coronary artery from the pulmonary artery) underwent surgical repair. We have reviewed the all medical records, electrocardiogram, chest X-ray and echocardiography retrospectively. Result: Three of the patients were boys and four were girls. The median age at the operation was 5.4 months (Range: 3$\∼$33 months). The average body weight of at the operation was 6.7 kg (Range: 3.7$\∼$11.3 kg). A mean follow up period was 18 months. Only 3 patients were initially diagnosed as ALCAPA. And 3 patients had moderate mitral regurgitation. Immediate coronary artery reimplantation on diagnosis with the aim of restoring a two-coronary system circulation was done. The average bypass time was 114$\pm$37 minutes, and the average aortic cross clamping time was 55$\pm$22 minutes. The average stay of intensive care unit was 5$\pm$3 days, the mean mechanical ventilator time was 38$\pm$45 hours and the hospital stay after operation was 12$\pm$5 days. There were significant improvements in electrocardiogram and chest X-ray of the all patients except one late death patient. The ventricular function showed almost normal recovery after operation; the EF (Ejection Fraction) increased from 41.2$\pm$ 10.3$\%$ to 60.5$\pm$ 15.8$\%$ within 1 month and to 59.8$\pm$13.9$\%$ within 1 year after operation, the SF (Shortening Fraction) increased from 23.6$\pm$4.7$\%$ to 38.6$\pm$8.4$\%$ within 1 month and to 37.4$\pm$7.9$\%$ within 1 year after operation, LVEDDI (Left Ventricular End-diastolic Dimension Index) decreased from 100.8$\pm$25.6 mm/$m^{2}$ to 90.3$\pm$ 19.2 mm/$m^{2}$ within f month and to 79.3$\pm$ 15.8 mm/$m^{2}$ within 1 year after operation. Concomitant mitral repair was done in two patients with anterior mitral leaflet prolapse. In every patient, mitral valve showed less than mild regurgitation during follow up. One late death occurred in which patient Dor procedure was applied 10 months after initial operation due to the dilated cardiomyopathy Conclusion: In the management of this rare and could be fatal Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA), early suspicion and correct diagnosis is of most important. But, after diagnosis, immediate restoration of 2 coronary systems could result in good outcome.

• Tuberculosis and Respiratory Diseases
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• v.43 no.5
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• pp.805-811
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• 1996

Congenital cystic adenomatoid malformation of the Lung(CCAM) is characterized by anomalous fetal development of terminal respiratory structures, resulting in an adenomatoid proliferation of bronchiolar elements and cystic formation. CCAM was first described and differentiated from other cystic lung disease in the English literature by Ch'in and Tang in 1949. CCAN is a rare, potentially lethal form of congenital pulmonary cystic disease and the salient features of lesion are an irregular network of terminal respiratory bronchiole-like structures and macrocysts variably lined by pseudostratified ciliated columnar epithelium and simple cuboidal epithelium. Adult presentation of CCAM of the lung is so rare that only 9 cases have been reported in the literature of date. The pathogenesis of CCAM remains disputed and reseachers have variously proposed that the lesion represents a developmental anomaly, hamartoma, or a fonn of pulmonary dysplasia. Van Dijk and Wagenvoort divided CCAM into three subtypes : cystic, intermediated, and solid. These correspond to types I, II, and III of Stocker. In adults, the evaluation of cystic or multi cystic lung disease requires consideration of a differential diagnosis including the acquired lesions of lung abscess, cavitary neoplasm or inflammatory mass, bullous disease, bronchiectasis, and postionflammatory pneumatocele. Congenital lesions such as sequestration, bronchopulmonary-foregut anomalies, and bronchogenic cyst are also encounted. The definitive treatment for CCAM is complele removal of the involved lobe. Panial lobectomy leads to multiple complications, including severe post-operative infection. We report a case of CCAM in a 14-year-old female presentated with a pneumothorax and large bullae, who was treated by surgical remove of the involved lobe.

• Journal of the korean academy of Pediatric Dentistry
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• v.23 no.2
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• pp.429-449
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• 1996

An objective definition of the anomaly is not avaliable and most investigators define the term differently or fail to describe their criterion. Because dental anomaly may lead to many complications, early detection and diagnosis of dental anomalies are essential steps in the evaluation of the child patient and in treatment planning. These procedures require detailed medical and dental histories, through clinical examination and the use of radiographs. So, this study was designed to find out the prevalence of dental anomalies. The clinical and roentgenographic examination was undertaken for 8,054 children at age from 0 to 15 years and statistical analysis was done. The results were as follows : 1. Among the examined subjects, 2,134 subjects(26.5%) showed dental anomalies. The prevalence of individual dental anomalies were as follows : supernumerary teeth 15.6%, congenitally missing teeth 6.6%, fusion 2.2%, odontoma 0.35%, microdontia 1.2%, macrodontia 0.05%, gemination 0.22%, talon cusp 0.36%, dens evaginatus 0.24%, dens invaginatus 0.15%, dilaceration 0.27%, taurodontism 0.09%, abnormal tooth position 1.7%, natal & neonatal teeth 0.92%, amelogenesis imperfecta 0.01%. 2. Significant correlations between the groups with individual dental anomalies were as follows : between group I and other groups, there was negative correlation, especially group I and group II. And the correlation coefficient between male and female showed differences. 3. For the supernumerary teeth group, the prevalence of male was higher than female(p<0.001). While for the congenitally missing teeth, macrodontia, microdontia, abnormal tooth position group, the prevalence of female was greater than male(p<0.001). 4. For the congenitally missing teeth group, the mandibular primary lateral incisor showed the highest incidence in primary dentiton, while mandibular lateral incisor in permanent dentition. In the mandible(72.5%), this site showed higher prevalence than in maxilla. In the case with deciduous congenitally missing teeth, the prevalence of successive permanent congenitally missing teeth was about 33.9%, the incidence was highest in mandibular lateral incisors. 5. Most supernumerary teeth existed on middle area and showed inverted position and unerupted state. In addition, supernumerary teeth showed higher incidence on maxilla (99.3%). 6. In the case with deciduous fused teeth, the prevalence of successive permanent congenitally missing teeth was 39.9%, while that of successive permanent fused teeth was 2.7%. And the highest rate of the prevalence (40.3%) appeared in fusion of mandibular deciduous lateral incisor and canine. 7. In the case of odontoma, the prevalence was higher in maxilla(78.6%) and anterior region(82.7%) than mandible and posterior region.

• Journal of Chest Surgery
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• v.49 no.1
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• pp.29-34
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• 2016

Background: Pectus excavatum (PE) and pectus carinatum (PC) are the most common chest wall deformities. In this study, we aimed to characterize how patients obtained information about these deformities, as well as patients' family history, associated medical problems, and postoperative satisfaction after the Nuss and Abramson procedures. Methods: This cross-sectional retrospective study included patients who were operated by a single surgeon between 2006 and 2013. Follow-up calls were made after approval of our institution's ethics committee. We reached 207 of the 336 PE patients (61.6%) and 73 of the 96 PC patients (76%). Results: The majority of the patients were male (85% of the PE patients and 91.8% of the PC patients). The age of diagnosis of PE was $14.52{\pm}0.51years$ and the age at the time of operation was $17.89{\pm}0.42years$; for PC patients, the corresponding ages were $15.23{\pm}0.55years$ and $16.77{\pm}0.55years$, respectively. A total of 70% of the PE patients and 63.8% of the PC patients obtained information about pectus deformities through the Internet. In 27.1% of the PE patients with an associated anomaly, 57.1% (n=13) had scoliosis, while 41.1% of the PC patients with an associated anomaly had kyphosis (n=5). Postoperative satisfaction, as evaluated on a scale from 0 to 10, was $8.17{\pm}0.15$ for PE patients and $8.37{\pm}0.26$ for PC patients. The postoperative pain duration was $51.93{\pm}5.18days$ for PE patients and $38.5{\pm}6.88days$ for PC patients. Conclusion: In this study, we found that most patients with pectus deformities were male. The Internet was an important resource for patients to learn about their deformities. Family history and associated anomalies were identified as important aspects for consideration in the clinical setting. The patients reported high levels of postoperative satisfaction, and pain management was found to be one of the most important elements of postoperative care.