• Title/Summary/Keyword: Clinical spectrum

Search Result 584, Processing Time 0.031 seconds

A Case of Mosaic Ring Chromosome 4 Diagnosed by FISH Technique (FISH에 의해 확진된 Mosaic Ring Chromosome 4의 환아 1 예)

  • Yun, Sook-Kyung;Lim, Min-Hye;Kim, Sil-Kyung;Cho, Hyoun-Chan
    • Korean Journal of Clinical Laboratory Science
    • /
    • v.41 no.1
    • /
    • pp.6-10
    • /
    • 2009
  • Ring chromosome occurs when both telomeres of a chromosome are lost and the remaining portion of the chromosome circularizes to re-establish chromosome stability. This abnormal structure shows mitotic instability unlike the normal chromosomes, causing problems during mitosis. Here, we report one case of "chromosome 4 ring syndrome" on a 6-month-old male patient with growth retardation. Ring chromosome, monosomy, dicentric chromosome were shown by conventional chromosome analysis using peripheral blood. Peripheral blood was used and incubated for 72 hours for chromosome analysis. 3 probes (LSI WHS SpectrumOrange/CEP 4 SpectrumGreen, 4p subtelomere probe, 4q subtelomere probe) were used to detect the origin and breakpoint of ring chromosome 4 by FISH (fluorescense in situ hybridization) technique.

  • PDF

Comparison of ERG Denoising Performance according to Mother Function of Wavelet Transforms (웨이브렛 변환의 모함수에 따른 ERG의 잡음제거 성능 비교)

  • Seo, Jung-Ick;Park, Eun-Kyoo;Jang, Jun-Young
    • Journal of Korean Clinical Health Science
    • /
    • v.4 no.4
    • /
    • pp.756-761
    • /
    • 2016
  • Purpose. Noise occurs at measuring Electoretinogram(ERG) signals as the other bio-signal measurement. It is compared the denoising performance according to the mother function of wavelet transforms. Methods. The ERG signal that generated power supply noise and white noise was used as a sampling signal. The noise of ERG signal was filtered by using haar, db7, bior mother function. The filtering performance of each mother functions was compared using Fourier transform spectrum and SNR(signal to noise ratio). Results. In the haar functioin, the result of the Fourier transform spectrum was that the power supply noise is removed and the white noise performance is not good. The SNR was 27.0404. In the db7 function, the results of Fourier transform spectrum was that the power supply noise is removed and the white noise performance is good. The SNR was 35.1729. In the db7 function, the results of Fourier transform spectrum was that the power supply noise is removed and the white noise performance is the bset. The SNR was 35.4445. Conclusions. The db7, bior function was good results in power supply noise and white noise filtered. The bior function is suitable for filtering noise of the ERG signal.

A Validation Study of the Korean Child Behavior Checklist 1.5-5 in the Diagnosis of Autism Spectrum Disorder and Non-Autism Spectrum Disorder

  • Cho, Han Nah;Ha, Eun Hye
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
    • /
    • v.30 no.1
    • /
    • pp.9-16
    • /
    • 2019
  • Objectives: The purpose of this study was to analyze the discriminant validity and the clinical cut off scores of the Child Behavior Checklist 1.5-5 (CBCL 1.5-5) in the diagnosis of autism spectrum disorder (ASD) and non-ASD. Methods: In total, 104 ASD and 441 non-ASD infants were included in the study. T-test, discriminant analysis, receiver operating characteristic (ROC) curve analysis, and odds ratio analysis were performed on the data. Results: The discriminant validity was confirmed by mean differences and discriminant analysis on the subscales of Emotionally reactive, Somatic complaints, Withdrawn, Sleep problems, Attention problems, Aggressive behavior, Internalizing problems, Externalizing problems, and Total problems, along with the Diagnostic and Statistical Manual of Mental Disorders (DSM)-oriented scales between the two groups. ROC analysis showed that the following subscales significantly separated ASD from normal infants: Emotionally reactive, Somatic complaints, Withdrawn, Sleep problems, Attention problems, Aggressive behavior, Internalizing problems, Externalizing problems, Total problems, and DSM pervasive developmental problems. Moreover, the clinical cut off score criteria adopted in the Korean-CBCL 1.5-5 were shown to be valid for the subscales Withdrawn, Internalizing problems, Externalizing problems, Total problems, and DSM pervasive developmental problems. Conclusion: The subscales of Withdrawn, Internalizing problems, Externalizing problems, Total problems, and DSM pervasive developmental problems significantly discriminated infants with ASD.

Is fetal nuchal cord associated with autism spectrum disorder? A meta-analysis

  • Jenabi, Ensiyeh;Ahmadi, Maryam;Maleki, Azam
    • Clinical and Experimental Pediatrics
    • /
    • v.65 no.3
    • /
    • pp.131-135
    • /
    • 2022
  • Purpose: There is inconsistent evidence about the association between fetal nuchal cord and the risk of autism spectrum disorder (ASD). We performed a meta-analysis to investigate whether fetal nuchal cord is associated with an increased risk of ASD in offspring. Methods: Three main English databases were searched until January 2021. The Newcastle-Ottawa Scale was used to assess study quality. Study heterogeneity was determined using the I 2 statistic, while publication bias was assessed using Begg and Egger tests. Results are presented as odds ratios (ORs) and relative ratios with 95% confidence intervals (CI) and were determined by a random-effects model. Results: Five articles (1 cohort, 4 case-control; 3,088 total children) were included in the present meta-analysis. Fetal nuchal cord was not a risk factor for ASD (OR, 1.11; 95% CI, 0.66-1.57). There was homogeneity among studies that reported a risk of ASD (I2=0.0%). Conclusion: Our results showed that fetal nuchal cord is not a risk factor for ASD. Future large cohort studies should confirm this finding.

Genotypic Detection of Extended-Spectrum β-Lactamase-Producing of Klebsiella pneumoniae (Extended-Spectrum β-Lactamase 생성 Klebsiella pneumoniae 균주의 유전형 검출)

  • Yook, Keun-Dol;Yang, Byoung-Seon;Park, Jin-Sook
    • Journal of the Korea Academia-Industrial cooperation Society
    • /
    • v.14 no.3
    • /
    • pp.1191-1196
    • /
    • 2013
  • Among Gram-negative pathogens in Korea, the incidence of resistance to third generation cephalosporins is becoming an ever-increasing problem. The production of extended-spectrum ${\beta}$-lactamase (ESBL) is the main mechanism of bacterial resistance to a third-generation cephalosporins and monobactams. Accurate identification of the ESBL genes are necessary for surveillance and epidemiological studies of the mode of transmission in the hospital. This study was conducted to detect the genes encoding ESBL of 46 K. penumoniae isolated from Daejeon, Chungnam and Chungbuk regional university hospitals from February to August in 2012. The phenotypes of the isolated specimens were examined according to the combination disc test (CDT) by the Clinical and Laboratory Standards Institute (CLSI). Forty two ESBL producing K. penumoniae isolates could be detected using ceftazidime (CAZ) discs with and without clavulanate (CLA). By CDT, 42 K. pneumoniae strains were confirmed to be ESBL strains. Genotyping was performed by multiplex PCR with type-specific primers. By PCR analysis, TEM gene in 46 strains, SHV gene in 37 strains and CTX-M genes in 14 strains were identified. Ten isolates did carry genes encoding ESBLs of all types TEM, SHV and CTX-M. The multiplex polymerase chain reaction (PCR) analysis was better to detect and differentiate ESBL producing K. penumoniae strains in clinical isolates.

Characteristics of late-onset epilepsy and EEG findings in children with autism spectrum disorders

  • Lee, Ha-Neul;Kang, Hoon-Chul;Kim, Seung-Woo;Kim, Young-Key;Chung, Hee-Jung
    • Clinical and Experimental Pediatrics
    • /
    • v.54 no.1
    • /
    • pp.22-28
    • /
    • 2011
  • Purpose: To investigate the clinical characteristics of late-onset epilepsy combined with autism spectrum disorder (ASD), and the relationship between certain types of electroencephalography (EEG) abnormalities in ASD and associated neuropsychological problems. Methods: Thirty patients diagnosed with ASD in early childhood and later developed clinical seizures were reviewed retrospectively. First, the clinical characteristics, language and behavioral regression, and EEG findings of these late-onset epilepsy patients with ASD were investigated. The patients were then classified into 2 groups according to the severity of the EEG abnormalities in the background rhythm and paroxysmal discharges. In the severe group, EEG showed persistent asymmetry, slow and disorganized background rhythms, and continuous sharp and slow waves during slow sleep (CSWS). Results: Between the two groups, there was no statistically significant difference in mean age (P=0.259), age of epilepsy diagnosis (P=0.237), associated family history (P=0.074), and positive abnormal magnetic resonance image (MRI) findings (P=0.084). The severe EEG group tended to have more neuropsychological problems (P=0.074). The severe group statistically showed more electrographic seizures in EEG (P=0.000). Rett syndrome was correlated with more severe EEG abnormalities (P=0.002). Although formal cognitive function tests were not performed, the parents reported an improvement in neuropsychological function on the follow up checkup according to a parent's questionnaire. Conclusion: Although some ASD patients with late-onset epilepsy showed severe EEG abnormalities, including CSWS, they generally showed an improvement in EEG and clinical symptoms in the longterm follow up. In addition, severe EEG abnormalities tended to be related to the neuropsychological function.

Research Trends and Considerations in The Clinical Use of Robots for Children with Autism Spectrum Disorders (자폐스펙트럼장애아동을 대상으로 한 국내 로봇활용 융합연구동향)

  • Yun, Ji-Hye;Yoon, Hyeon-Sook
    • Journal of the Korea Convergence Society
    • /
    • v.9 no.3
    • /
    • pp.153-163
    • /
    • 2018
  • The purpose of this research is to investigate the research trends on the clinical use of robots for children with autistic spectrum disorders. In order to understand research trends in the context of the clinical use of robots for children with ASD, recent studies on the use of robot in the educational and therapeutic intervention were examined. Critical literature review is used as research method. Recent studies of 17 articles are chosen with two filters of 1) publication years since 2009, and 2) two key-words; robot and ASD. Further, literature on research trends is scrutinized and categorized according to the kinds of robots that are used, the types of independent and dependent variables, and research methods. The result of this research indicated that recent years, the clinical use of interactive robots with children with disability has received considerable attention in light of the proven utility of educational and therapeutic intervention. Rapid progress in robotics, especially in the area of ASD, offers tremendous possibilities for innovation in treatment for children with ASD. In conclusion, this study addresses the need of further study on the implementation procedures and protocols of clinical robots that will make the adoption feasible and easy.

Clinical spectrum and short-term outcomes of multisystem inflammatory syndrome in children in a south Indian hospital

  • Balagurunathan, Muruganantham;Natarajan, Thrilok;Karthikeyan, Jothilakshmi;Palanisamy, Venkateshwaran
    • Clinical and Experimental Pediatrics
    • /
    • v.64 no.10
    • /
    • pp.531-537
    • /
    • 2021
  • Background: Multisystem inflammatory syndrome in children (MIS-C) is a new hyperinflammatory variant that evolved during the coronavirus disease 2019 pandemic. Although the precise pathophysiology of MIS-C is uncertain, it is thought to be due to immune dysregulation occurring after recovery from acute infection. Purpose: Our study aimed to analyze the clinical spectrum, laboratory parameters, imaging characteristics, treatment strategies, and short-term outcomes of children with a diagnosis of MIS-C. Methods: This retrospective and prospective observational study included children less than 16 years of age who were admitted to the pediatric unit of a tertiary care teaching hospital in south India between August 2020 to January 2021 with a diagnosis of MIS-C according to World Health Organization criteria. Results: Twenty-one children were included in the analysis; all had fever with variable combinations of other symptoms. The mean age was 6.9 years; 71.4% were male. Gastrointestinal (80.9%) and cardiovascular (80.9%) systems were the most commonly affected. The majority of children had elevated inflammatory markers, and 16 (76.2%) had echocardiographic abnormalities mimicking Kawasaki disease. Eleven children (52.4%) required intensive care admission, 3 (14.3%) required supplemental oxygen, and 4 (19%) required inotropes. Nine (42.9%) were treated with intravenous immunoglobulin alone, 6 (28.6%) with steroids alone, and 3 (14.3%) with steroids and immunoglobulin. The median hospital stay was 6 days; there were no fatalities. Overweight/obesity, elevated ferritin, and mucocutaneous involvement were significantly associated with a prolonged hospital stay (≥7 days). Sixteen children (76.2%) were followed up till now and all of them had no clinical concerns. Conclusion: MIS-C is an emerging disease with variable presentation. A high index of suspicion is necessary for its early identification and appropriate management. Further research is essential for developing optimal treatment strategies.

Association between assisted reproductive technology and autism spectrum disorders in Iran: a case-control study

  • Jenabi, Ensiyeh;Seyedi, Mahdieh;Hamzehei, Ronak;Bashirian, Saeid;Rezaei, Mohammad;Razjouyan, Katayoon;Khazaei, Salman
    • Clinical and Experimental Pediatrics
    • /
    • v.63 no.9
    • /
    • pp.368-372
    • /
    • 2020
  • Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder defined by impairments in social interaction and verbal and nonverbal communication. Purpose: Determine the association between use of assisted reproduction technology (ART) and the risk of ASD among children. Methods: This case-control study included 300 participants (100 cases, 200 controls). The control group included women with a child aged 2-10 years without ASD, while the cases were women with a child aged 2-10 years with ASD. We used a researcher-made questionnaire. Data were analyzed using Stata ver. 14 at the 0.05 significance level. Results: In the univariate analysis, there was significant association between child sex, delivery mode, history of preterm delivery, history of using ART, and maternal age at child's birth and the risk of ASD. After the adjustment for other variables, this association was significant for male sex (2.66; 95% confidence interval [CI], 1.11-4.31; P=0.001) and history of using ART (4.03; 95% CI, 1.76-9.21; P=0.001). Therefore, after the adjustment for confounder variables, there was no significant association between ART and the risk of ASD among children (4.98; 95% CI, 0.91-27.30; P=0.065). Conclusion: After the adjustment for other variables, risk factors for ASD were male sex and history preterm delivery. Thus, there was no significant association between ART and the risk of ASD among children.

NMR Spectrum Analysis of Plasma Lipoprotein Lipid (혈장 lipoprotein lipid의 NMR spectrum 분석 - 메틸기 및 메털렌기의 line width에 의한 악성 종양 진단 -)

  • Song, I.C.;Min, B.G.
    • Proceedings of the KIEE Conference
    • /
    • 1987.07b
    • /
    • pp.1296-1300
    • /
    • 1987
  • NMR spectrum analysis is performed to obtain the preliminary data for cancer detection. As NMR spectrum of plasma is dominated by the resonances of water, the resonances of plasma lipoprotein lipid is obscured by the water resonance. Thus, we can obtain the signal of plasma lipoprotein lipid using Ultracentrifugation. we analyzed the spectrum measuring the mean line widths of the methyl and methylene resonances for normal control group. As a result, the line width was Hz To obtain a potentially valuable approach to the detection of cancer, the performance of additional clinical trials in larger populations will be made.

  • PDF