• Journal of Genetic Medicine
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• 제5권1호
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• pp.1-6
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• 2008

Knowledge of developmental biology is essential for clinicians who seek to develop a rational approach to the diagnostic evaluation of patients with birth defects. After an accurate diagnosis, a clinician can make predictions about prognosis, recommend management options, and provide an indication of recurrence risk for the parents and relatives. In this paper, we first review the basic mechanisms of embryological development and clinical dysmorphology. We then review cellular and molecular mechanisms in development and related congenital anomalies. Developmental anomalies have a major impact on public health. Genetic counseling and prenatal diagnosis, with the option to continue or to terminate a pregnancy, are important for helping families faced with the risk of a serious congenital anomaly in their offspring. Moreover, primary prevention of birth defects, for example, supplementation of prenatal folic acid and prevention of consumption of alcohol which has teratogenic effects, can be accomplished using developmental biology knowledge.

• Journal of Chest Surgery
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• 제25권12호
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• pp.1455-1460
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• 1992

Anomalous drainage of the right superior vena cava into the left atrium is a very rare congenital cardiac anomaly. Recently a patient with this venous anomaly was surgically corrected and forms the basis of this report. Patient findings were as follows: The patient has no other symptom but cyanosis which prompted cardiac evaluation Chest PA and electrocariogram were usual. Cross-sectional echocardiogram showed normally connected heart without intracardiac defect, Inferior vena cava drained normally into right atrium and coronary sinus was not dilated. Contrast, given into the right atrium, appeared in the left atrium This rare venous anomaly was confirmed by surgery. Surgical correction consisted of division of superior vena cava above the junction of left atrium and reanastomosis into right atrial appendage. Postoperative digital subtracion angiography confirmed the successful repair. She has doing well for 6months since operation. Systemic venous anomalies without intracardiac defect are very rare. However this anomalies should be considered in the differential diagnosis of cyanosis. The successfully corrected case is reported and literature is reviewed.

• 대한구순구개열학회지
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• 제11권2호
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• pp.59-63
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• 2008

Craniofacial Centre at Children's Hospital Boston is a worldwide leader in the care of children and adolescents with craniofacial anomalies especially with cleft lip and/or cleft palate, which provides a team approach to the evaluation, diagnosis and treatment of children and adults with congenital (present at birth) or acquired facial deformities. This is staffed by an experienced team of clinicians, such as in oral and maxillofacial surgery, plastic surgery, neurosurgery, dentistry, audiology, speech and language pathology, genetics, psychiatry, otolaryngology, and social work, all with specialized training in the care of children with craniofacial anomalies. Here, there is a short introduction of history, attending surgeons, works, and sequential treatment for cleft lip/palate patients about this institution.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제24권2호
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• pp.238-243
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• 2021

Caudal regression syndrome (CRS) is a rare neural tube defect that affects the terminal spinal segment, manifesting as neurological deficits and structural anomalies in the lower body. We report a case of a 31-month-old boy presenting with constipation who had long been considered to have functional constipation but was finally confirmed to have CRS. Small, flat buttocks with bilateral buttock dimples and a short intergluteal cleft were identified on close examination. Plain radiographs of the abdomen, retrospectively reviewed, revealed the absence of the distal sacrum and the coccyx. During the 5-year follow-up period, we could find his long-term clinical course showing bowel and bladder dysfunction without progressive neurologic deficits. We present this case to highlight the fact that a precise physical examination, along with a close evaluation of plain radiographs encompassing the sacrum, is necessary with a strong suspicion of spinal dysraphism when confronting a child with chronic constipation despite the absence of neurologic deficits or gross structural anomalies.

• 대한소아치과학회지
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• 제23권2호
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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.

• 한국컴퓨터정보학회논문지
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• 제24권2호
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• pp.139-147
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• 2019

A false alarm, which is an incorrect report of an emergency, could trigger an unnecessary action. The predictive maintenance framework developed in our previous work has a feature whereby a machine alarm is triggered based on sensor data evaluation. The sensor data evaluator performs three essential evaluation steps. First, it evaluates each sensor data value based on its threshold (lower and upper bound) and labels the data value as "alarm" when the threshold is exceeded. Second, it calculates the duration of the occurrence of the alarm. Finally, in the third step, a domain expert is required to assess the results from the previous two steps and to determine, thereby, whether the alarm is true or false. There are drawbacks of the current evaluation method. It suffers from a high false-alarm ratio, and moreover, given the vast amount of sensor data to be assessed by the domain expert, the process of evaluation is prolonged and inefficient. In this paper, we propose a method for automatic false-alarm labeling that mimics how the domain expert determines false alarms. The domain expert determines false alarms by evaluating two critical factors, specifically the duration of alarm occurrence and identification of anomalies before or while the alarm occurs. In our proposed method, Hierarchical Temporal Memory (HTM) is utilized to detect anomalies. It is an unsupervised approach that is suitable to our main data characteristic, which is the lack of an example of the normal form of sensor data. The result shows that the technique is effective for automatic labeling of false alarms in sensor data.

• Journal of Korean Neurosurgical Society
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• 제59권3호
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• pp.214-218
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• 2016

Most craniosynostoses are sporadic, but may have an underlying genetic basis. Secondary and syndromic craniosynostosis accompanies various systemic diseases or associated anomalies. Early detection of an associated disease may facilitate the interdisciplinary management of patients and improve outcomes. For that reason, systematic evaluation of craniosynostosis is mandatory. The authors reviewed systematic evaluation of craniosynostosis with an emphasis on genetic analysis.

• Journal of Platform Technology
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• 제11권6호
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• pp.3-12
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• 2023

In today's system operation, it is difficult to detect failures and take immediate action in the case of a shortage of manpower compared to the number of equipment or failures in vulnerable time zones, which can lead to delays in failure recovery. In addition, various algorithms exist to detect abnormal symptom data, and it is important to select an appropriate algorithm for each problem. In this paper, an ensemble-based isolation forest model was used to efficiently detect multivariate point anomalies that deviated from the mean distribution in the data set generated to predict system failure and minimize service interruption. And since significant changes in memory space usage are observed together with changes in CPU usage, the problem is solved by using LSTM-Auto Encoder for a collective anomaly in which another feature exhibits an abnormal pattern according to a change in one by comparing two or more features. did In addition, evaluation indicators are set for the performance evaluation of the model presented in this study, and then AI model evaluation is performed.

• Childhood Kidney Diseases
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• 제3권2호
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• pp.180-186
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• 1999

목적 : 요로감염이 있을 경우 방광요관역류를 포함한 선천성 요로계 이상을 25-55%에서 발견할 수 있다. 이 중 방광요관역류는 8-52%이나 이러한 역류성 병변이 일차성 역류인지,선천성 기형과 동반되는 이차성 역류인지 구별하기 어렵고 역류 자체에 의해 기존의 선천성 병변은 무시되기 쉽다. 이에 저자들은 방광요관역류 여부와 관계없이 선천성 요로계 이상이 요로감염과 동반된 경우에 대하여 성별 연령별 빈도, 선천성 요로계 이상의 종류 및 방광요관역류와의 관련성 여부 등에 대해서 알아보고자 본 연구를 실시하였다. 대상 및 방법 : 1996년 3월부터 1998년 2월까지 삼성서울병원에 요로감염증으로 입원치료받은 환아로 신초음파검사 단독 또는 초음파검사 및 배뇨중 요도조영술검사(voiding cystourethrography)를 모두 시행하여 적어도 한 가지 이상의 방사선학적 검사를 시행하였던 65례를 그 대상으로 하였다. 59례에서 초음파검사를 시행하였고 배뇨중 방광요도조영술은 51례에서, $^{99m}Tc-DMSA$ scan은 45례에서 시행하였다. 결과 : 1) 방광요관역류 여부와 관계없이 선천성 요로계 이상이 요로감염과 동반된 경우는 요로감염환아 65례 중 9례(13.8%)로 남아 7명 여아 2명이었다. 2) 연령별 분포를 보면 1세 미만이 1명, 1-2세 5명, 3-5세 1명, 5세 이상 2명이었다. 3) 선천성 요로계 이상의 종류는 각각 양측이소성신, 방광요관이행부폐쇄, 다낭신, 방광신우이행 부협착, 방광신우이행부폐쇄 및 수신증, 후부요도판막, 방광격막, 요막관잔유물, hutch diverticula 등이었다. 4) 역류 이외의 선천성 요로계 이상 9례 중 배뇨중 방광요도조영술은 8례에서 시행되었고 이 중 4례에서 방광요관역류가 발견되었다. 5) 요배양 검사에서는 E. coli가 3례(33.4%)에서 동정되어 가장 많았다. 결론 : 본 연구는 선천성 요로계 이상을 방광요관역류 여부와 관계없이 고찰한 것으로 13.8%에서 관찰되었다. 연구 대상의 예가 적어서 그 결과를 단정짓기는 어려우나, 다른 요로계 기형도 적지않게 동반되는 것으로 관찰되는바 요로감염증과 연관된 역류 이외의 다른 기형의 중요성도 간과되어서는 안될 것으로 사료된다.

• Archives of Plastic Surgery
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• 제43권3호
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• pp.242-247
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• 2016

Background Median cleft lip is a rare anomaly consisting of a midline vertical cleft through the upper lip. It can also involve the premaxillary bone, the nasal septum, and the central nervous system. In our current report, we present the clinical features of 6 patients with a median cleft lip and their surgical management according to the accompanying anomalies. Methods From December 2010 to January 2014, 6 patients with a median cleft lip were reviewed. Five of these cases underwent surgical correction; alveolar bone grafting was performed in a patient with a median alveolar cleft. The surgical technique included inverted-U excision of the upper lip and repair of the orbicularis oris muscle. The mean follow-up period was 20.4 months (range, 7.4-44.0 months). Results The study patients presented various anomalous features. Five patients received surgical correction, 4 with repair of the median cleft lip, and one with iliac bone grafting for median alveolar cleft. A patient with basal sphenoethmoidal meningocele was managed with transoral endoscopic surgery for repair of the meningocele. Successful surgical repair was achieved in all cases with no postoperative complications. Conclusions Relatively mild forms of median cleft lip can be corrected with inverted-U excision with good aesthetic outcomes. In addition, there is a broad spectrum of clinical features and various anomalies, such as nasal deformity, alveolar cleft, and short upper frenulum, which require close evaluation. The timing of the operation should be decided considering the presence of other anomalies that can threaten patient survival.