• Title/Summary/Keyword: Clinical spectrum

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Autonomic dysfunction in multiple sclerosis and neuromyelitis optica spectrum disorder

  • Soonwook Kwon;Ju-Hong Min
    • Annals of Clinical Neurophysiology
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    • v.25 no.1
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    • pp.19-26
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    • 2023
  • Autonomic dysfunction occurs frequently in multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD). Patients with either condition may present with autonomic symptoms such as bladder, sexual, cardiovascular, thermoregulatory, and gastrointestinal dysfunction, and fatigue, but autonomic symptoms that affect quality of life are underrecognized in clinical practice. The immunopathogenesis of MS has been considered to be associated with autonomic dysfunction. Applying appropriate treatment strategies for autonomic dysfunction is important to improve the quality of life of patients. Here we review autonomic dysfunction and how this is managed in patients with MS and NMOSD.

A Case of Two SRY Genes in a Tuner's Syndrome Feature (터너증후군 의심환자에서 2개의 SRY 유전자 발현 1예)

  • Park, Sang-Muk;Kim, Yoon-Sik
    • Korean Journal of Clinical Laboratory Science
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    • v.42 no.3
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    • pp.111-115
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    • 2010
  • A 15-year-old female with primary amenorrhea and Tuner's syndrome feature was referred for a chromosome analysis. The karyotype of the patient was 45,X/46,X,der(Y) mosaicism under initial GTG-banding analysis. Fluorescence in situ hybridization (FISH) analysis with probe for CEP X probes and SRY probe (Vysis, Inc. Downers Grove, IL 60515, USA) was carried out. This probe is direct labeled with SpectrumOrange (SRY, Yp11.3) and is available as a single probe or mixed with the CEP X SpectrumGreen probe. SRY SpectrumOrange/CEP X SpectrumGreen hybridized to a specimen obtained from an two isodicentric Y chromosomes. The karyotype of the patient was ish Xcen(DXZ1x1)/Xcen(DXZ1x1), Yp11.3(SRYx2) by using FISH. This karyotype was considered a variant of Tuner syndrome with mixed gonadal dysgenesis (MGD), male pseudohermaphroitism (MPH) and apparently normal male.

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Loss of Acquired Skills: Regression in Young Children With Autism Spectrum Disorders

  • Ye Rim Kim;Da-Yea Song;Guiyoung Bong;Jae Hyun Han;Hee Jeong Yoo
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.34 no.1
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    • pp.51-56
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    • 2023
  • Objectives: Regression, while not a core symptom of autism spectrum disorder (ASD), has been suggested to be a distinct subtype by previous studies. Therefore, this study aimed to explore the prevalence and clinical differences between those with and without regression in children with ASD. Methods: This study includes data from toddlers and young children aged 2-7 years acquired from other projects at Seoul National University Bundang Hospital. The presence and characteristics of regression were explored using question items #11-28 from the Autism Diagnostic Interview-Revised. Chi-square and independent t-tests were used to compare various clinical measurements such as autistic symptoms, adaptative behavior, intelligence, and perinatal factors. Results: Data from 1438 young children (1020 with ASD) were analyzed. The overall prevalence rate of regression, which was mainly related to language-related skills, was 10.2% in the ASD group, with an onset age of 24 months. Regarding clinical characteristics, patients with ASD and regression experienced ASD symptoms, especially restricted and repetitive interests and behaviors, with greater severity than those without regression. Furthermore, there were significant associations between regression and hypertension/placenta previa. Conclusion: In-depth surveillance and proactive interventions targeted at young children with ASD and regression should focus on autistic symptoms and other areas of functioning.

Hepatic Hemangiomas: Spectrum of US Appearances on Gray-scale, Power Doppler, and Contrast-Enhanced US

  • Kyoung Won Kim;Tae Kyoung Kim;Joon Koo Han;Ah Young Kim;Hyun Ju Lee;Seong Ho Park;Young Hoon Kim;Byung Ihn Choi
    • Korean Journal of Radiology
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    • v.1 no.4
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    • pp.191-197
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    • 2000
  • Because US plays a key role in the initial evaluation of hepatic hemangiomas, knowledge of the entire spectrum of US appearances of these tumors is important. Most hemangiomas have a distinctive US appearance, and even with those with atypical appearances on conventional gray-scale US, specific diagnoses can be made using pulse-inversion harmonic US with contrast agents. In this essay, we review the spectrum of US appearances of hepatic hemangiomas on conventional gray-scale, power Doppler, and pulse-inversion harmonic US with contrast agents.

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Caudal Agenesis : Understanding the Base of the Wide Clinical Spectrum

  • Lee, Ji Yeoun;Shim, Youngbo;Wang, Kyu-Chang
    • Journal of Korean Neurosurgical Society
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    • v.64 no.3
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    • pp.380-385
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    • 2021
  • Caudal agenesis refers to the congenital malformation with the essential feature of the agenesis of the sacrococcygeal bone. It is associated with various types of spinal cord anomaly as well as with complex anomalies of genitourinary or gastrointestinal system. The wide spectrum of the disease can be attributed to its pathoembryological origin, the secondary neurulation. This review presents the definition, etiology, classification, and clinical features of the disease.

Patterns of Antimicrobial Resistance and Genotyping of Extended Spectrum $\beta$-Lactamase (ESBL) Producing Clinical Isolates in Korea

  • Lee, Gyu-Sang;Kim, Jong-Bae
    • Biomedical Science Letters
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    • v.13 no.4
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    • pp.293-304
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    • 2007
  • The emergence of extended spectrum $\beta$-lactamase (ESBL) producing bacteria is worldwide concern. Until recently, the most frequently identified strains in the Republic of Korea were E. coli and Klebsiella spp. The incidence of resistance to extended spectrum $\beta$-lactam antibiotics is increasing in Wonju city, Korea. Total 57 strains of ESBL producing E. coli and Klebsiella species were isolated from Wonju Christian Hospital during a 9 month-period from April to December, 2003. To determine the prevalence and genotypes of the ESBL producing clinical isolates, antibiotic susceptibility and ESBL activity test by VITEK system and double disk synergy (DDS) test, and PCR based genotyping were performed. Fourteen (82%) isolates of 17 ESBL producing E. coli were found to have $bla_{TEM}$ gene and 5 (29%) isolates were found to have $bla_{CTX-M}$ gene by polymerase chain reaction (PCR). Thirty (75%) isolates of 40 ESBL producing Klebsiella species with $bla_{TEM}$ gene, 38 (95%) isolates with $bla_{SHV}$ gene, and 7 (20%) isolates with $bla_{CTX-M}$ type gene were also identified. Enterobacterial repetitive intergenic consensus (ERIC) PCR and similarity index by dendrogram for genetical similarity to band pattern of each clinical isolates were examined. ESBL producing E. coli were grouped into 6 clusters up to 84% of similarity index and Klebsiella species were grouped into 12 clusters up to 76% of similarity index. In conclusion, ESBL producing clinical isolates were characterized with the results from antimicrobial resistance pattern and genetical similarity using ERiC PCR.

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A Basic Study for Development of Clinical Practice Guidelines of Korean Medicine in Autism Spectrum Disorder -Based on Pre-existing Clinical Practice Guidelines of Autism Specturm Disorder- (자폐스펙트럼장애의 치료에 대한 한의 임상 가이드라인 개발을 위한 기초연구 -기존에 개발된 자폐스펙트럼장애 가이드라인을 중심으로-)

  • Kim, Sang Min;Lee, Jin Yong;Lee, Sun Haeng;Chang, Gyu Tae
    • The Journal of Pediatrics of Korean Medicine
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    • v.31 no.1
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    • pp.52-62
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    • 2017
  • Objectives The purpose of this study is to review pre-existing clinical practice guidelines for autism spectrum disorders, and refer those in developing a new practice guideline. Methods A total of 9 existing clinical practice guidelines for autism spectrum disorder developed from 2010 to 2016 were searched by Google scholar and Pubmed, and were reviewed those literatures in three parts: general, diagnosis & evaluation, and intervention. Results There were no consistency in the recommendation methods of 9 clinical care guidelines (such as the method of rating and recommendation intensity for diagnosis, evaluation, and treatment). However, in the diagnosis and evaluation section, frequently used evaluation and diagnostic tools are mentioned in most clinical practice guidelines, and the types of pharmacologic and non-pharmacological treatments that are mainly recommended in treatment are equally mentioned in most clinical practice guidelines could confirm. Conclusions 1. Some guideline recommendations are graded according to each criterion. Recommendations presented in various databases were based on systematic reviews or other literatures. The most utilized database were PsycINFO, CINAHL, Cochrane. 2. DSM-5 and ICD-10 were the most common used diagnostic criteria, and DSM-IV was used as a diagnostic standard in the guideline published before 2013. The tools used for diagnosis and evaluation were also varied. However, most recommended ones were ADI-R, ADOS-G, and DISCO. 3. Treatment was largely divided into pharmacological intervention and non-pharmacological intervention. In some guideline, the interventions were divided into pediatric and adult. Most of the pharmacological interventions were not recommended due to lack of evidence, but in cases in which specific symptoms were aimed, they recommended to seek professional help. 4. In addition to interventions, each guideline referred to supportive interventions that may be helpful in the daily life of patients with ASD, which may need to be addressed in future clinical guidelines.

Evaluation of drug interventions for the treatment of sleep disorders in children with autism spectrum disorders: a systematic review

  • Jenabi, Ensiyeh;Ataei, Sara;Bashirian, Saeid
    • Clinical and Experimental Pediatrics
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    • v.62 no.11
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    • pp.405-409
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    • 2019
  • A structured review study of drug interventions on sleep disorders in patients with autism spectrum disorders (ASD) has not been published to date. This systematic review aimed to investigate drug interventions for the treatment of sleep disorders in children with ASD. The Web of Science, PubMed, and Scopus databases were searched until March 2019. Study quality was assessed using the Delphi checklist. Due to the heterogeneity of the findings, a meta-analysis was not possible. Drug interventions for the treatment of sleep disorders in patients with ASD included melatonin, atomoxetine, and risperidone. Atomoxetine had no effect on sleep disorders in patients with ASD. A total of 10 studies were reviewed. Melatonin appears to be useful for the treatment of sleep problems in patients with ASD, but further studies are needed to determine the effects of other drugs.

Korean Clinical Guideline for Autism Spectrum Disorder - Clinical Features, Course, Epidemiology, and Cause

  • Jun-Won Hwang;Jeong-Seop Lee
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.35 no.1
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    • pp.8-14
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    • 2024
  • Autism spectrum disorder (ASD) is a heterogeneous developmental disorder characterized by impairments in two core areas: 1) social communication and interaction and 2) restricted and repetitive patterns of behaviors and interests. In general, ASD is known to be a lifelong disorder. Follow-up studies from childhood to adulthood have reported that the severity of the key symptoms ASD decreases over time. However, chronic health problems including mental health occur in many patients with ASD. The prevalence of ASD has increased from around 0.04% in the 1970s to 2.8% at present. The average age of diagnosis in developed countries is 38-120 months of age. Recent evidence suggests that biological factors which include genetic, congenital, immunological, neuroanatomical, biochemical, and environmental ones are important in causing autism. Until now, early signs and various risk factors of ASD have been suggested.