• Biomedical Science Letters
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• v.2 no.1
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• pp.127-132
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• 1996

The karyotype and the concentration of serum protein were investigated in Korean unclassified mental retardees. The results were as follows. Fragile X chromosomes were identified in three patients, and the frequencies of fragile X chromosome were 4~15%. The concentration of serum protein was 5.73$\pm$0.89(g/dl), and the A/G ratio was 0.86$\pm$0.14 in fragile X syndrome patients. The concentration of serum protein was 6.83 $\pm$0.72(g/dl), and the A/G ratio was 0.87$\pm$0.17 unclassified mental retardees. The results revealed that the level of globulin concentration and A/G ratio in fragile X syndrome patients and unclassified mental retardees were lower than in normal group and Down's patients.

• Proceedings of the Korean Society for Bioinformatics Conference
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• 2006.02a
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• pp.98-107
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• 2006

Chromosomal copy number changes (aneuploidies) are common in human populations. The extra chromosome can affect gene expression by whole-genome level. By gene expression microarray analysis, we want to find aberrant gene expression due to aneuploidies in Klinefelter (+X) and Down syndrome (+21). We have analyzed the inactivation status of X-linked genes in Klinefelter Syndrome (KS) by using X-linked cDNA microarray and cSNP analysis. We analyzed the expression of 190 X-linked genes by cDNA microarray from the lymphocytes of five KS patients and five females (XX) with normal males (XY) controls. cDNA microarray experiments and cSNP analysis showed the differentially expressed genes were similar between KS and XX cases. To analyze the differential gene expressions in Down Syndrome (DS), Amniotic Fluid (AF)cells were collected from 12 pregnancies at $16{\sim}18$ weeks of gestation in DS (n=6) and normal (n=6) subjects. We also analysis AF cells for a DNA microarray system and compared the chip data with two dimensional protein gel analysis of amniotic fluid. Our data may provide the basis for a more systematic identification of biological markers of fetal DS, thus leading to an improved understanding of pathogenesis for fetal DS.

• Clinical and Experimental Pediatrics
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• v.64 no.7
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• pp.355-363
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• 2021

Background: Nephrotic syndrome (NS) is a common renal disorder in children attributed to podocyte injury. However, children with the same diagnosis have markedly variable treatment responses, clinical courses, and outcomes, suggesting molecular heterogeneity. Purpose: This study aimed to explore the molecular responses of podocytes to nephrotic plasma to identify specific genes and signaling pathways differentiating various clinical NS groups as well as biological processes that drive injury in normal podocytes. Methods: Transcriptome profiles from immortalized human podocyte cell line exposed to the plasma of 8 subjects (steroid-sensitive nephrotic syndrome [SSNS], n=4; steroid-resistant nephrotic syndrome [SRNS], n=2; and healthy adult individuals [control], n=2) were generated using microarray analysis. Results: Unsupervised hierarchical clustering of global gene expression data was broadly correlated with the clinical classification of NS. Differential gene expression (DGE) analysis of diseased groups (SSNS or SRNS) versus healthy controls identified 105 genes (58 up-regulated, 47 down-regulated) in SSNS and 139 genes (78 up-regulated, 61 down-regulated) in SRNS with 55 common to SSNS and SRNS, while the rest were unique (50 in SSNS, 84 genes in SRNS). Pathway analysis of the significant (P≤0.05, -1≤ log2 FC ≥1) differentially expressed genes identified the transforming growth factor-β and Janus kinase-signal transducer and activator of transcription pathways to be involved in both SSNS and SRNS. DGE analysis of SSNS versus SRNS identified 2,350 genes with values of P≤0.05, and a heatmap of corresponding expression values of these genes in each subject showed clear differences in SSNS and SRNS. Conclusion: Our study observations indicate that, although podocyte injury follows similar pathways in different clinical subgroups, the pathways are modulated differently as evidenced by the heatmap. Such transcriptome profiling with a larger cohort can stratify patients into intrinsic subtypes and provide insight into the molecular mechanisms of podocyte injury.

• American Studies
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• v.44 no.1
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• pp.39-79
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• 2021

This paper examines professional and popular medical discourse on "mongolism" (Down syndrome) in the early twentieth century to delve into the history of mongolism and the "Oriental imaginary" of modern America. The Oriental imaginary is a concept to explore the ways in which Americans, who had heard of mongolism or seen a "Mongol" themselves, imagined and conceptualized the defect in terms of the contemporary race relations. Moving beyond the interests of medical professionals discussed in the previous scholarship, this paper aims to include views and perceptions of the American public. The second section reviews the existing studies of the history of mongolism in the West. The third section discusses the mongolism of Asians and African Americans, among whom it had long been believed not to occur. Lastly, an analysis of American newspaper health advice columns on mongolism sheds light on the public reception and transmission of medical knowledge.

• Journal of Korean Academy of Nursing
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• v.42 no.5
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• pp.609-621
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• 2012

Purpose: The purpose of this study was to explore the experiences of Korean mothers in parenting children with Hunter's syndrome, an X linked recessive genetically inherited disease usually affecting boys. Methods: Data were collected from 14 mothers having children with Hunter's syndrome, through two focus group interviews and individual in-depth interviews. Qualitative data from the field notes and transcribed notes were analyzed using the grounded theory methodology developed by Strauss & Corbin (1998). Results: The core category about the process of rearing children with Hunter's syndrome was identified as "navigating in the maze". The process of rearing children with Hunter's syndrome passed through three phases; 'entering an unknown region', 'struggling to escape from the unknown region', 'settling down in the unknown region'. Conclusion: In this study "navigating in the maze", as the core category deeply showed joys and sorrows of mothers in the process of rearing their children with Hunter's syndrome. In this rearing process they gradually adjusted themselves to their given condition. Also they gained initiatively coping strategies to care for, and protect their children. Therefore health care providers can establish supportive programs in the clinical field to empower these mothers by reflecting their proactive coping strategies.

• Physical Therapy Rehabilitation Science
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• v.6 no.4
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• pp.182-188
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• 2017

Objective: The purpose of this study was to compare ankle function between adults with and without Down syndrome (DS). Design: Cross-sectional study. Methods: Ten adults with DS and 18 without participated in this study and underwent manual muscle test (MMT), range of motion (ROM) assessment, star excursion balance test (SEBT), and functional movement screen (FMS). The tests were demonstrated to increase their accuracy and the actual measurements were assessed after one or two demonstrations. To minimize the standby time and fatigue, the travelled distance and measuring order were adjusted. To remove the influence of shoes on the measurements, the shoes were taken off and only socks were worn. Results: Dorsal and plantar flexion MMTs of both ankles were significantly weaker and plantar flexion ROM of both ankles were significantly lower in adults with DS compared with those without (p<0.05). However, dorsal flexion ROM of both ankles were not significantly different between them. There were significant differences in distances measured in all the directions (anterior, anterolateral, lateral, posterolateral, posterior, posteromedial, medial, and anteromedial directions) of SEBT (p<0.05). Significant differences were also demonstrated in the scores of hurdle step, inline lunge, shoulder mobility, and rotary stability among the seven items of FMS (p<0.05). Conclusions: To enhance the dynamic stability of adults with DS, it is necessary to improve ankle stability by strengthening the ankle dorsal and plantar flexors.

• Journal of Microbiology and Biotechnology
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• v.20 no.6
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• pp.959-967
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• 2010

Down syndrome (DS) is an abnormality of the 21st chromosome that commonly occurs in children born to older women. Thus, amniotic fluid (AF) is usually collected from such women for prenatal diagnosis. This study analyzed human AF supernatants (AFS) using a mass spectrometric (MS) approach to search for candidate biomarkers of a DS pregnancy. The AFS were collected from older pregnant women at weeks 16-18 of their gestation by amniocentesis for cytogenetic analysis. The AFS from the pregnancies carrying DS (n=4) or chromosomally normal (n=6) fetuses, as revealed by the cytogenetic analysis, were then subjected to global protein profiling based on liquid chromatography-electrospray ionization-tandem mass spectrometry (LC-ESI-MS/MS). Affinity chromatography was also applied prior to the LC-ESI-MS/MS to minimize the masking effect of highly abundant albumin and immunoglobulin and thereby increase the diversity of the identified proteins. As a result, at least 30 new AFS proteins were identified and 44 AFS proteins were found to be differentially expressed between the DS and normal cases, where 6 of the proteins were unique to the DS cases and 11 were unique to the chromosomally normal cases. In addition, in the DS cases, 19 AFS proteins were downregulated and 8 were upregulated to varying degrees. A Western blot analysis confirmed the LC-ESI-MS/MS data, indicating that the combined detection of apolipoprotein A-II (apoA-II) and alpha-fetoprotein (AFP) could be a potential tool for diagnosing DS cases.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.7 no.2
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• pp.103-106
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• 2011

다운 증후군(Down syndrome, Trisomy 21)은 가장 흔하게 나타나는 증후군으로 대략 1/1000의 확률로 태어난다. 세 개의 유전적 유형이 있지만, 95% 정도가 3개의 21번 염색체를 갖는 비분리 염색체 유형이다. 주된 구강 증상으로는 거대설, 균열설, 과잉치, 결손치, 왜소치, 유치와 영구치의 맹출지연 그리고 이에 따른 부정교합 등이 있다. 75%의 환자에서는 어린 나이에 치주질환에 이환되기 쉬우며, 치아우식증에는 낮은 이환율을 보인다는 보고가 있다. 급성 림프구성 백혈병(Acute Lymphoblastic Leukemia)은 주로 어린이에서 나타나며, 특히 다운 증후군 환자에서의 발병율은 정상인에 비해 20배 높다. 치은비대와 출혈의 양상이 주로 나타나며, 간혹 상악골과 구개골에 종괴가 관찰 되기도 한다. 본 증례에서는 서울대학교치과병원 소아치과에 내원한 환자 중 급성림프구성 백혈병을 앓고 있는 다운 증후군 환아가 있어 이를 보고하고자 한다.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.5 no.1
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• pp.18-22
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• 2009

A 26-year-old female patient with Down syndrome visited to recieve dental treatment under gnenral anesthesia 6 years ago. The patient had difficulties in oral examination, radiograph taking and laboratory test. The patient had congenital heart disease and medical consultation based on the echocardiography was provided by a cardiologist indicating that the patient could tolearte general anesthesia during dental treatment. And two times of general anesthesia were administered during a dental treament with the interval of 3 years and no postoperpative complicaton was reported. At the third dental operation, the patient had a relatively good condition and her prescreening test revealed no abnormalities. Without further consultation with a cardiologist, general anesthesia was administered to the patient. Anaesthesia was based on thiopental and ventilation of desflurane and $N_2O$ in oxygen via an endotracheal tube with an appropriate monitoring. During the maintenance of anesthesia, the blood pressure of the patient started to drop and the oxygen saturation also began to decrease. Consequently, the proceding operation was discontinued and also inhalation anesthesia was ceased. As the patient was recovered from anesthesia, her systemic conditions were alleviated. After the complete recovery of the patient, she visited the cardiologist, and the cardiologic test revealed her severe right ventricular dilatation. In the anesthesia of patients with congenital heart disease, information on their systemic conditions needs to be undated from the medical consultation, which assures the safety of treatment.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.14 no.2
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• pp.106-110
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• 2018

A 20-year-old male patient with Down syndrome presented with rampant caries and chronic periodontitis on full-mouth. Patient have many oral diseases despite of no abnormalities of medical history, no involuntary tremor, no excessive masticatory pressure, and no limitation of exercise. Also he had no experiences of oral health education of prostheses and oral health management. Therefore, A number of fixed prostheses and denture treatments were performed to caregiver and patient with education for oral hygiene and management. After delivery final prostheses, they had repeated follow-up for checking management.