• Title/Summary/Keyword: 진단 지연

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Clinical Manifestation of Children with Failure to Thrive (Failure to Thrive를 주소로 내원한 환아들의 임상상)

  • Moon, Jeong-Hee;Kim, Ji-Young;Beck, Nam-Sun
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.3 no.1
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    • pp.68-74
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    • 2000
  • Purpose: This study was to investigate the clinical manifestations of FTT in children. Methods: From March 1997 to July 1999, clinical observations were made on patients with FTT who had visited to Samsung Medical Center. Detailed histories and through physical examinations were taken, and when suspected organic FTT, basic laboratory studies were done. Results: Upon the review of medical records, we investigated the clinical manifestations of 74 children, aged 1 month and 13 year 1 month. The causes of FTT were composed of either physiologic (47.8%) or pathologic (52.2%) ones. Among the physiologic FTT, were there familial short stature (FSS, 14.5%), intrauterine growth retardation (IUGR, 14.5%), constitutional growth delay (CGD, 11.6%), idiosyncrasy and prematurity. Among pathologic causes, neurologic disorders (20%) are the most common causes of FTT, and then follow by GI (13.4%), allergic and infectious disorders in decreasing order. The data showed that average caloric intake in patients with FTT was 76,2% of recommended amount. FTT patients with CGD, IUGR, and idiosyncrasy had tendency to take small foods. The FTT children with prematurity, IUGR and pathologic FTT, were short and thin for their ages. However FTT children with CGD and FSS had tendency to be thin with relatively normal heights for their ages, in comparison with those of the children with prematurity, IUGR and pathologic FTT. Conclusion: The diagnosis of FTT was easily obtained with simple and through medical history, physical examination, and minimal laboratory tests. In this study, organic FTT was more prevalent than physiologic one. This results indicate that early intervention is mandatory, because children may develop significant long-term sequelae from nutritional deficiency.

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Task-Oriented Intervention for Improvement of Visuomotor Coordination and Fine Motor Coordination Functions in Developmental Delayed Child : A Single-Subject Design (발달지연 아동의 시-운동 협응 및 소운동 협응 기능 향상을 위한 과제지향의 중재(task-oriented intervention) 적용: 단일대상연구)

  • Song, Jiwon;Hong, Eunkyoung
    • The Journal of Korean Academy of Sensory Integration
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    • v.19 no.2
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    • pp.36-45
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    • 2021
  • Purpose : This study aims to identify changes in the visuomotor coordination and fine motor coordination functions caused by the use of a task-oriented intervention in a child with developmental delay. Methods : The participant, who was a 6-year-old girl, was not diagnosed but showed a developmental delay in overall function. The study period was February 5, 2021, to June 4, 2021, and a single-subject A-B study design was used. The baseline (A) was initially evaluated in the first three sessions to identify the child's functions. In the intervention period, 12 session (B), task-oriented intervention was applied; the child engaged in many of the activities in kindergarten, such as painting, writing, making, and cutting with scissors. Visuomotor coordination and fine motor coordination were equally measured during the baseline and intervention periods. Visuomotor coordination was measured via drawing of an oval according to the Korean Developmental Test of Visual Perception 3 (K-DTVP-3), and fine motor coordination was assessed using the finger-nose touching item of the Clinical Observation of Motor and Postural Skills (COMPS). Results : The mean of the baseline of the K-DTVP-3 oval drawing was 23, and the mean of the intervention period was 39.66. The mean of the baseline of the COMPS finger-nose touching was 0, and the mean of the intervention period was 5.08. Conclusion : Task-oriented intervention seems to have a positive effect on the visuomotor coordination and fine motor coordination abilities of children with developmental delay.

A Case of Kabuki Syndrome Confirmed by Genetic Analysis: A Novel Frameshift Mutation in the KMT2D Gene (분자유전학적으로 진단된 가부키 증후군 1례)

  • Park, Su Jin;Ahn, Moon Bae;Jang, Woori;Cho, Won Kyung;Chae, Hyo Jin;Kim, Myung Shin;Suh, Byung Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.17 no.3
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    • pp.103-108
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    • 2017
  • Kabuki syndrome is a rare congenital disorder that causes multiple birth defects and mental retardation. Mutation of the lysine methyltransferase 2D (KMT2D) gene is the primary cause of Kabuki syndrome. We report a 4-year-old Korean girl diagnosed with Kabuki syndrome based on distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows, depressed nasal tip, prominent ears), skeletal anomalies, short stature, and molecular analysis, which revealed a novel frameshift mutation in the KMT2D gene. A 4-year-old patient had a past history of congenital cardiac malformations (coarctation of the aorta, ventricular septal defect, atrial septal defect, patent ductus arteriosus), subclinical hypothyroidism and dysmorphic features at birth including webbed neck, short fingers, high arched palate, micrognathia and horseshoe kidney. She showed unique facial features such as a long palpebral fissure, long eyelashes, arched eyebrows with sparseness of the lateral third, broad nasal root, anteverted ears, and small mouth. Her facial features suggested Kabuki syndrome, and genetic analysis discovered a novel heterozygous frameshift mutation (c.4379dup, p.Leu1461Thrfs*30) in exon 15 of the KMT2D gene. The diagnosis of our 4-year-old patient was made through thorough physical examination and history taking, and genetic testing. It is challenging to diagnose patients with Kabuki syndrome at birth, since the characteristic facial features are expressed gradually during growth. Clinical suspicion aroused by regular follow-ups may lead to earlier diagnosis and interventions.

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Comparison Study of Lesion Localization in Patients with Primary and Secondary Hyperparathyroidism using Double-Phase Tc-99m Sestamibi Scintigraphy (일차성 및 이차성 부갑상선기능항진증 환자에서 Double-Phase Tc-99m Sestamibi 스캔에 의한 병변의 국소화에 관한 비교)

  • Jeon, Tae-Joo;Lee, Jong-Doo;Rhyu, Young-Hoon;Park, Jung-Soo;Jang, Hang-Seok
    • The Korean Journal of Nuclear Medicine
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    • v.33 no.4
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    • pp.368-380
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    • 1999
  • Purpose: The purpose of this study was to evaluate and compare the scintigraphic findings and diagnostic accuracy of double-phase Tc-99m sestamibi scan in primary and secondary hyperparathyroidism (HPT). Materials and Methods: We retrospectively reviewed 16 cases of primary (18 lesions) and 11 cases of secondary HPT (44 lesions) who underwent Tc-99m-sestamibi scan before the surgical intervention. Scan was performed using LEM camera (Siemens, Germany) after the injection of 740MBq of Tc-99m sestamibi. Routine image consisted of baseline and 3-hour delayed images and each image was obtained using both parallel and pine hole collimator. The study population was 27 patients (male/female=5/22, age: $49.1{\pm}10.8$). Results: Eighteen lesions of primary HPT consisted of 13 adenomas and S hyperplasias, while all lesions of secondary HPT were hyperplasias. Among the case of primary HPT, we could detect all the lesions of 13 adenomas but only 2 lesions of 5 hyperplasias (40%) could be detected by double phase scintigraphy. Three cases of primary lesion showed decreased uptake in delayed images compared with baseline. The sensitivity, specificity, positive predictive value and accuracy of primary and secondary HPT were 58.8% (10/17), 83.3% (10/12), 83.3% (10/12), 75.9% (22/29), and 37.5% (15/40), 50% (2/4), 88.2% (15/17), 38.6% (17/44), respectively. Overall sensitivity, specificity, positive predictive value and accuracy were 43.9% (25/57), 75% (12/16), 86.2% (25/29), and 53.4% (39/73). There were no statistical difference between the weight of primary and secondary HPT lesion (p>0.05). Conclusion: Tc-99m sestamibi scan is fairly good modality to detect parathyroid lesion in patient with primary HPT before the surgical intervention. However, since some of cases may reveal decreased uptake in delayed image, a careful attention to the findings of baseline images may be helpful. Still the low accuracy of sestamibi scan in diagnosis of secondary HPT prohibits routine use of it for this disease.

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BORDERLINE DISORDER OF CHILDHOOD : 8 CASES (아동기 경계선 장애 : 8증례)

  • Hong, Kang-E;Lee, Jeong-Seop;Shin, Min-Sup
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.6 no.1
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    • pp.3-17
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    • 1995
  • The so-called borderline children are characterised by disturbances in the sense of reality and interpersonal relationships, lack of control, fluctuation of functioning, uneven development and excessive anxiety. But the concept of borderline disorder of childhood is very difficult to define and diagnose in current classification system. The present study adapted the consensus symptoms in borderline children by Bemporad and Vera eight cases aged 7-11 were examined in 37 variables. Results are as follows 1) All subjects are boys and girl hardly be diagnosis n current diagnostic system and have many concurrent diagnoses. Common chief complaints in the sense of reality. 2) In KEDI-WISC test, the borderline children showed average intelligence, but performance IQ tends to be higher than verbal IQ. In Rorscharch test, they showed high thought disorder index, emotional instabilities and aggressive impulses. The results of TOVA suggested attentional deficit in half of the subjects. The organicity is not prominent. 3) Many of the borderline children were unwanted baby. Although primary care takers of all the subjects were their mothers there were moderate problems in caring attitude of their children and marital relationship with their husband. Sccioeconomic status was generally below middle class. Most of all subjects have delayed language development, but have overcome subsequently. Many subjects were rejected by peers because of their aggression. 4) The first visit of the subjects was about 6 years of age. Average duration of treatment was 2 years. All of them were treated in the outpatient basis except one. The effect of pharmacotherapy was doubtful and the necessity of long term play therapy was suggested. Although there were many limitations of method in present study, it was suggested that further research is needed for diagnostic criteria, epidemiology and treatment.

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Role of MRI in Diagnostic Evaluation of Papillary Lesions of the Breast (유방의 유두상 병변의 진단에서 자기공명영상의 역할)

  • Lee, So-Mi;Kim, Hye-Jung;Gwak, Yeon-Joo;Lee, Hui-Joong;Jang, Yun-Jin;Shin, Kyung-Min;Park, Ji-Young;Jung, Jin-Hyang
    • Investigative Magnetic Resonance Imaging
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    • v.14 no.1
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    • pp.41-46
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    • 2010
  • Purpose : To evaluate the role of magnetic resonance imaging (MRI) in the diagnosis of papillary lesions of the breast. Materials and methods : Among 45 papillary lesions diagnosed at ultrasonography-guided core biopsy (USCB), 27 benign papillary lesions in 22 patients who underwent breast MRI were reviewed. The excsional biopsy was performed in 1-10 days after MRI was done. In MRI findings, lesions were considered suspicious if they show irregular, rim enhancement, or linear enhancement in morphologic evaluation, or washout enhancement pattern of delayed phase in dynamic enhancement characteristics. Diffusionweighted images were analyzed according to visibility of lesions. MRI findings were correlated with pathologic results at excisional biopsy. Results : At excisional biopsy, two lesions (9%) were diagnosed malignant in 22 benign papillary lesions without atypia by USCB and 4 (80%) were malignant in 5 benign papillary lesions with atypia by USCB. Among 18 lesions detected on MRI, 16 lesions showed suspicious findings on MRI, 11 lesions (69%) were diagnosed as benign and 5 (31%) were malignant. Among 12 lesions detected on diffusion weighted imaging, 10 lesions were diagnosed as benign and 2 were malignant. MRI findings were not significantly correlated with pathologic results at excisional biopsy. Conclusion : MRI findings were not useful to predict malignancy in benign papillary lesions diagnosed at USCB, because MRI findings of these were mostly suspicious (88.9%, 16/18). The benign papillary lesion should be included in the false positive lesion on breast MRI.

Signal-Averaged P Wave Analysis in Patients with Paroxysmal Atrial Fibrillation (발작성 심방세동 환자의 신호평균 P파 분석)

  • 김인영;이종연;이병채;이용희;이종민;김선일;김준수
    • Journal of Biomedical Engineering Research
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    • v.23 no.1
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    • pp.1-8
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    • 2002
  • Atrial fibrillation(AF). chronic or paroxysmal is the most frequent arrhythmia in human subjects Duration of P wave in signal-averaged electrocardiography(SAECG) reflects intra-atrial conduction time and therefore. could be used as an electrophysiological marker for atrial conduction chance at the earthy stave. So we apply the analysis method using SAECG to diagnose Paroxysmal atrial fibrillation(PAF) . Subjects Participated for the study consisted of two groups: a control group(n=34) of normal healthy volunteers and a group of AF Patients(n=38) with a documented history of PAF but no other history of cardiac disease. We evaluated the effect of several filtering and determination methods to find the starting and ending feints of the P wavy on its duration. To increase the measurement reliability of P wave duration. the automatic detection method was proposed. Also. to increase the detection rate for PAF risk, the decision threshold value was optimized using receiver operation characteristics(ROC) curve. Results showed that the highest statistical difference (p〈0.001) of the P wane duration between controls and subjects was obtained at the Processing condition, using absolute threshold vague(8.75 $\mu N$) , a least mean square(LMS) high pass filter and 30 Hz cutoff frequency. The most outstanding difference(sensitivity 88 % specificity 64.4 %) between controls and subjects was obtained at the decision threshold value of 112 ms.

Usefulness of Blood Pool Half Body in Three Phase Bone Scan in Patients with R/O Reflex Symphathetic Dystrophy Syndrome (반사성교감신경 이영양증후군 환자의 삼상 골 스캔 시 Half Body 혈액 풀 영상의 적용)

  • Lee, Moo-Seok;Lee, Hyo-Yeong;Yun, Jong-Jun;Lee, Hwa-Jin;Song, Hyeon-Seok;Park, Se-Yun;Jeong, Ji-Uk
    • The Korean Journal of Nuclear Medicine Technology
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    • v.14 no.1
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    • pp.105-110
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    • 2010
  • Purpose: Three phase bone scan was considered sensitive in Patients with Reflex Symphathetic Dystrophy Syndrome (RSDS). Generally, three phase bone scan in the RSDS patients shows increased uptake of one side extremity joint. But three phase bone scan has been performed with flow, blood pool and delayed scan. We performed blood pool half body scan in order to investigate its usefulness. Materials and Methods: From October 2007 to September 2009, three phase bone scan (flow, blood pool, half body blood pool, delayed) was performed after injection of 750 MBq of $^{99m}Tc$-DPD in diagnosed patients with RSDS (M:F=8:7, R:L=9:6). For quantitative analysis, we obtained the count ratios of bilateral hands by drawing a region of interest (ROI) in the three phase images and compared with the count ratios of shoulders in half body blood pool and delayed images. Results: In flow images, right/left ratios were $1.09{\pm}0.53$. In blood pool images, right/left ratios were $1.13{\pm}0.47$ (hand), $1.08{\pm}0.26$ (shoulder). In delayed images, right/left ratios were $1.24{\pm}0.75$ (hand), $1.11{\pm}0.31$ (shoulder). As a result, Log of right/left counts of the others and that of shoulder blood pool image were correlated well with statistical significance (Spearman's R, p<0.005 SPSS for windows ver.12.0). Conclusion: Half body blood pool scan may be helpful in the diagnosis of patients with RSDS. Moreover, Half body blood pool scan reduced false negative and false positive rates. In order to improve agreement on interpretation of RSDS, Blood pool half body scan should be established as common criteria.

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Soft Tissue Sarcomas Presented with Hematoma (혈종을 동반한 연부 조직 육종)

  • Chung, Yang-Guk;Kang, Yong-Koo;Bahk, Won-Jong;Rhee, Seung-Koo;Lee, An-Hi;Park, Jeong-Mi;Cho, Hyun-Min
    • The Journal of the Korean bone and joint tumor society
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    • v.14 no.2
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    • pp.163-171
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    • 2008
  • Purpose: We analyze the characteristics of soft tissue sarcomas presented with hematoma, which were misdiagnosed as simple hematoma initially and the proper management were delayed. Materials and Methods: The 7 patients with histologically proven soft tissue sarcoma with hematoma presented since February 1997 were evaluated retrospectively. Neither patient had a medical history of bleeding tendency nor anticoagulant therapy. Two of them had minor traumas. There were 2 men and 5 women. Average follow up period was 58 months. MRI findings, provided treatments and oncologic outcome were reviewed with the reference of related articles. Results: Retrospective review of initial MR images revealed deep seated intramuscular masses with focal solid enhanced nodules at the peripheral margin. The diagnoses were delayed at least 1 month in 3 of them which included 2 cases of simple hematoma evacuation without biopsy initially. After histologic diagnosis of soft tissue sarcoma, wide resections were performed in 4 cases. one patient underwent above knee amputation and the remained 2 patients were managed with wide resection followed by amputation due to local recurrence. At last follow up there were CDF and NED in 2 cases, respectively and AWD in 3 cases. Conclusion: To avoid the delay of diagnosis and treatment of soft tissue sarcomas presented with hematoma, high degree of clinical suspicion, careful analysis of MR images and early biopsy were important.

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Type 2 Diabetes Mellitus in Children (소아연령에서의 2형 당뇨병의 임상적 고찰)

  • Park, Jee Min;Yoo, Eun Gyong;Kim, Duk Hee
    • Clinical and Experimental Pediatrics
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    • v.45 no.5
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    • pp.646-653
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    • 2002
  • Purpose : The incidence of type 2 diabetes mellitus in children has been increasing worldwide recently, which is thought to be related to the increasing prevalence of obesity. We investigated to evaluate the incidence and the characteristics of type 2 diabetes mellitus in children and also analysed the relationship between intrauterine growth retardation and type 2 diabetes mellitus. Methods : We investigated 25 children diagnosed as type 2 diabetes mellitus between March 1990 and December 2000. The analysis was performed retrospectively with medical records based on the clinical characteristics and laborotory findings. Results : Incidence of type 1 and type 2 diabetes mellitus in children has been increasing since 1990. We demonstrated an increase in the percentage of type 2 diabetes mellitus children from 5.3% in 1990 to 21.0% in 2000. Sixty eight percent of patients(17/25) were classified as obese group. Initial symptoms at first visit were polyuria, polydipsia and polyphagia 48%(12/25), asymptomatic glycosuria 40% (10/25), weight loss 8%(2/25) and obesity 4%(1/25). The mean age at diagnosis was $12.9{\pm}1.8$ years. 64%(16/25) of patients had positive family history of type 2 diabetes mellitus. Autoanti-bodies were positive in 18.1%(4/22) of patients. Twenty eight percent (7/25) of patients had an associated disease and two patients had fatty liver in association with obesity. Treatment consisted of diet, exercise, education and oral hypoglycemic agents. Three patients were treated with insulin as well as oral hypoglycemic agents because of poor blood glucose control. Long-term diabetic complications occurred in 4 patients. Intrauterine growth retardtion was found in 34.6%(9/25); 88.9% (8/9) of these patients were non-obese group. Conclusion : The increase in the incidence of type 2 diabetes mellitus in children is thought to be related to the increasing prevalence of obesity. The non-obese group of patients might be associated with intrauterine growth retardation.