• 제목/요약/키워드: autism-spectrum

검색결과 252건 처리시간 0.021초

The association Between Occupational Exposure to silica and Risk of Developing Rheumatoid Arthritis: A Meta-Analysis

  • Mehri, Fereshteh;Jenabi, Ensiyeh;Bashirian, Saeed;Shahna, Farshid Ghorbani;Khazaei, Salman
    • Safety and Health at Work
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    • 제11권2호
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    • pp.136-142
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    • 2020
  • Background: Rheumatoid arthritis (RA) is an autoimmune disease with systemic inflammatory arthritis. This meta-analysis was conducted to examine the association between occupational exposure to silica and the risk of developing RA among different workers. Methods: In this meta-analysis, we searched relevant published studies using major electronic databases including Scopus, PubMed, ISI Web of Science, and Google Scholar search engine up to October 2019, and the references of retrieved articles were also checked for further possible sources. A random-effects model was used to account for heterogeneity among the results of the studies using the pooled odds ratios (ORs) and their 95% confidence intervals (CIs). The Q-statistic and I2 tests were calculated to assess heterogeneity between the studies. Results: The pooled calculation of OR indicated a significant association between occupational exposure to silica and risk of developing RA among different workers (OR = 2.59, 95% CI = 1.73 to 3.45). In addition, the pooled estimates of OR in smokers were statistically significant (OR = 2.49, 95% CI = 1.13 to 3.86). Conclusions: The findings of the present study reveal that occupational exposure to silica may be associated with increased risk of developing RA.

정신적 장애인의 경제수준, 직업능력 및 취업욕구관련 분석 (Employment Needs of People with Mental Disabilities - Centering on Economic Status and Occupational Ability Variables)

  • 이현경;박효은;최만규
    • 한국콘텐츠학회논문지
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    • 제13권7호
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    • pp.265-277
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    • 2013
  • 본 연구는 정신적 장애인의 경제수준과 직업능력에 따른 취업욕구를 살펴보고 그에 따른 직업재활 활성화 방안을 제안하고자 하였다. 분석자료는 2008년부터 2010년 까지 장애인 고용패널조사에 3년간 참여한 정신적 장애인 298명(가중빈도적용:154,348명)을 대상으로 하였다. 연구결과, 직업교육 참여희망은 남성일 때, 중졸 이상일 때, 자격증을 보유했을 때, 그리고 장애유형중 지적장애일 때 직업교육 참여희망이 높았다. 한편, 취업의사 관련요인은 남성일 때, 가구주일 때, 중등교육 이상 이수하였을 때, 자격증을 보유하고 있을 때, 육체활동 능력이 높아질 때, 그리고 장애유형 중 자폐장애일 때 취업의사가 높았다. 이러한 결과를 토대로 정신적 장애인의 경제활동 참여를 높이기 위하여 정신적 장애인의 의사를 반영한 직업재활 서비스제공 및 사업주 주도적 직업활동 등을 제안하였다.

Epigenetically Upregulated T-Type Calcium Channels Contribute to Abnormal Proliferation of Embryonic Neural Progenitor Cells Exposed to Valproic Acid

  • Kim, Ji-Woon;Oh, Hyun Ah;Kim, Sung Rae;Ko, Mee Jung;Seung, Hana;Lee, Sung Hoon;Shin, Chan Young
    • Biomolecules & Therapeutics
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    • 제28권5호
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    • pp.389-396
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    • 2020
  • Valproic acid is a clinically used mood stabilizer and antiepileptic drug. Valproic acid has been suggested as a teratogen associated with the manifestation of neurodevelopmental disorders, such as fetal valproate syndrome and autism spectrum disorders, when taken during specific time window of pregnancy. Previous studies proposed that prenatal exposure to valproic acid induces abnormal proliferation and differentiation of neural progenitor cells, presumably by inhibiting histone deacetylase and releasing the condensed chromatin structure. Here, we found valproic acid up-regulates the transcription of T-type calcium channels by inhibiting histone deacetylase in neural progenitor cells. The pharmacological blockade of T-type calcium channels prevented the increased proliferation of neural progenitor cells induced by valproic acid. Differentiated neural cells from neural progenitor cells treated with valproic acid displayed increased levels of calcium influx in response to potassium chloride-induced depolarization. These results suggest that prenatal exposure to valproic acid up-regulates T-type calcium channels, which may contribute to increased proliferation of neural progenitor cells by inducing an abnormal calcium response and underlie the pathogenesis of neurodevelopmental disorders.

염색체 Microarray 검사의 임상적 적용 (Clinical Applications of Chromosomal Microarray Analysis)

  • 서을주
    • Journal of Genetic Medicine
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    • 제7권2호
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    • pp.111-118
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    • 2010
  • 염색체 microarray 검사는 유전체 전체를 한번에 검색하여 초현미경적인 염색체 이상을 매우 정밀하고 정확하게 검출할 수 있다. 외국에서는 현재 자주 활용되는 임상 진단 검사로 자리잡았고, 염색체 검사 또는 표적 부위를 검출하는 FISH 검사나 PCR 기반의 분자유전학적 방법을 대체하고 있다. 최근 발표된 consensus 들은 염색체 microarray 검사를 비특이적인 다발성 기형, 발달지연 또는 정신지체, 자폐증상질환의 환자에서는 염색체 검사보다 먼저 시행할 수 있는 검사로 제안하였다. 염색체 microarray 검사는 핵형 분석에서 검출된 염색체 불균형을 검증하기 위해 염색체 검사에 보조적으로 활용할 수 있고, 염색체 이상에 대한 보다 정확하고 종합적인 분석이 가능하다. 그러나 염색체 microarray 검사는 균형재배열의 염색체 이상과 low-level 모자이시즘을 검출하기 어렵고, 임상적 중요성이 불명확한 CNV에 대한 해석과 검사비용이 고가라는 한계점이 있다. 이러한 이유로 인해 현재로서는 염색체 microarray 검사가 산전 진단 목적으로는 고식적인 염색체 검사를 대신할 수는 없다는 의견이다. 임상검사실에서 염색체 microarray 검사 시행 시, 유전학적 및 세포유전학적 지식과 경험이 결과 분석과 해석 과정에서 요구되며, 적절한 검증 과정 단계와 유전상담이 동반되어야 한다.

Effects of Intraperitoneal N-methyl-D-aspartate (NMDA) Administration on Nociceptive/Repetitive Behaviors in Juvenile Mice

  • Kim, Seonmin;Kim, Do Gyeong;Gonzales, Edson luck;Mabunga, Darine Froy N.;Shin, Dongpil;Jeon, Se Jin;Shin, Chan Young;Ahn, TaeJin;Kwon, Kyoung Ja
    • Biomolecules & Therapeutics
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    • 제27권2호
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    • pp.168-177
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    • 2019
  • Dysregulation of excitatory neurotransmission has been implicated in the pathogenesis of neuropsychiatric disorders. Pharmacological inhibition of N-methyl-D-aspartate (NMDA) receptors is widely used to model neurobehavioral pathologies and underlying mechanisms. There is ample evidence that overstimulation of NMDA-dependent neurotransmission may induce neurobehavioral abnormalities, such as repetitive behaviors and hypersensitization to nociception and cognitive disruption, pharmacological modeling using NMDA has been limited due to the induction of neurotoxicity and blood brain barrier breakdown, especially in young animals. In this study, we examined the effects of intraperitoneal NMDA-administration on nociceptive and repetitive behaviors in ICR mice. Intraperitoneal injection of NMDA induced repetitive grooming and tail biting/licking behaviors in a dose- and age-dependent manner. Nociceptive and repetitive behaviors were more prominent in juvenile mice than adult mice. We did not observe extensive blood brain barrier breakdown or neuronal cell death after peritoneal injection of NMDA, indicating limited neurotoxic effects despite a significant increase in NMDA concentration in the cerebrospinal fluid. These findings suggest that the observed behavioral changes were not mediated by general NMDA toxicity. In the hot plate test, we found that the latency of paw licking and jumping decreased in the NMDA-exposed mice especially in the 75 mg/kg group, suggesting increased nociceptive sensitivity in NMDA-treated animals. Repetitive behaviors and increased pain sensitivity are often comorbid in psychiatric disorders (e.g., autism spectrum disorder). Therefore, the behavioral characteristics of intraperitoneal NMDA-administered mice described herein may be valuable for studying the mechanisms underlying relevant disorders and screening candidate therapeutic molecules.

Association between polycystic ovary syndrome and risk of attention-deficit/hyperactivity disorder in offspring: a meta-analysis

  • Maleki, Azam;Bashirian, Saeid;Soltanian, Ali Reza;Jenabi, Ensiyeh;Farhadinasab, Abdollah
    • Clinical and Experimental Pediatrics
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    • 제65권2호
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    • pp.85-89
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    • 2022
  • Background: There is evidence of a relationship between prenatal excess androgen exposure and central nervous developmental problems and attention-deficit/hyperactivity disorder (ADHD) in the offspring of mothers with polycystic ovary syndrome (PCOS). Purpose: Here we aimed to use a meta-analysis to investigate whether the offspring of mothers with PCOS are at an increased chance of developing ADHD. Methods: Three main English databases were searched for articles published through December 2020. The Newcastle-Ottawa Scale was used to assess study quality. Study heterogeneity was determined using I2 statistics and publication bias was assessed using Begg and Egger tests. The results are presented as odds ratio (OR) and relative ratio (RR) estimates with 95% confidence intervals (CIs) using a random-effects model. Results: Six articles (3 cohort and 3 case-control studies; 401,413 total ADHD cases) met the study criteria. Maternal PCOS was associated with an increased risk of ADHD in the offspring based on OR and RR (OR, 1.42; 95% CI, 1.27-1.57) and (RR, 1.43; 95% CI, 1.35-1.51), respectively. There was no heterogeneity among the included articles based on OR (I2=0.0%, P=0.588) and RR (I2=0.0%, P=0.878). Conclusion: Our study showed that maternal PCOS is a risk factor for ADHD. Therefore, screening their offspring for ADHD should be considered part of the comprehensive clinical care of women with PCOS.

The first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, developmental delay, and congenital hypothyroidism

  • Jin Young Cho;Tae Kwan Lee;Yoo Mi Kim;Han Hyuk Lim
    • Journal of Genetic Medicine
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    • 제19권2호
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    • pp.105-110
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    • 2022
  • The microdeletion syndrome of chromosome 2p15p16.1 (MIM: 612513) is an extremely rare contiguous gene deletion syndrome. Microdeletions of varying sizes in the 2p15-16.1 region are associated with developmental delay, intellectual disability, autism spectrum disorder, hypotonia, and craniofacial dysmorphism. Previous studies have identified two critical regions: the proximal 2p15 and distal 2p16.1 regions. BCL11A, PAPOLG, and REL genes play crucial roles in patients with 2p16.1 microdeletion. To our knowledge, only 39 patients have been reported as having 2p15p16.1 microdeletion syndrome. Here, we present another patient with 2p15p16.1 microdeletion syndrome. A nine-month-old boy was referred to our clinic for the psychomotor delay, facial dysmorphism, and congenital hypothyroidism. During his follow-up visits, he was diagnosed with global developmental delay, intellectual disability, abnormal behavior, hypotonia, microcephaly, and abnormal electroencephalography. Using a chromosomal microarray for genetic analysis, a novel, de novo, 622 kb microdeletion of 2p16.1 was identified as one of the critical regions of the 2p15p16.1 microdeletion syndrome. This is the first case of its kind in Korea. We have discussed our case and literature reviews to clarify the relationship between the genes involved and clinical phenotypes in 2p15p16.1 microdeletion syndrome.

자살 및 관련 질환과 침치료 및 혈위지압에 대한 대중과 연구자의 관심도 분석: Google Trends와 주요 전자 데이터베이스를 이용하여 (Analysis of Public and Researcher Interests in Suicide and Related Illnesses, and Acupuncture and Acupressure: Utilizing Google Trends and Major Electronic Database)

  • 강성현;이정경;권찬영
    • 동의신경정신과학회지
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    • 제34권3호
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    • pp.235-245
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    • 2023
  • Objectives: The aim of this study was to analyze public and researcher interests in suicide and related illnesses and acupuncture and acupressure treatment using Google Trends and some electronic databases. Methods: Search results for keywords "suicide," "acupuncture," "acupressure," and several illnesses related to suicide were analyzed in Google Trends from January 2004 to June 2023. Illnesses included anxiety, depression (including major depressive disorder), schizophrenia, bipolar disorder, post- traumatic stress disorder (PTSD), eating disorder (including anorexia nervosa and bulimia nervosa), substance use disorder, autism spectrum disorder, personality disorder (including borderline person- ality disorder), and chronic pain. Search results were extracted using relative search volume (RSV) scores between 0 and 100. Search terms were also searched in online databases, including PubMed, CNKI, and OASIS, to estimate the number of related studies, and descriptive analysis was conducted. Results: Google Trends analysis showed a strong positive correlation between the RSVs of "suicide and depression," "acupuncture and chronic pain," and "acupressure and PTSD." The electronic database search results produced numerous studies published on "suicide and depression," "acupuncture and depression," and "acupressure and anxiety." High interest in "suicide and depression," "acupuncture and chronic pain," and "acupressure and anxiety" was seen among the public and researchers. Interest in "suicide and chronic pain," "acupuncture and eating disorder," and "acupressure and PTSD" was higher in the public than among researchers, while "anxiety and suicide" and "anxiety and acu- puncture" showed opposite trends. Conclusions: The results of this research enable an understanding of public and researcher interest in suicide, acupuncture, acupressure, and suicide-related illnesses. The results also provide a basis for fu- ture research and examining public health implications in Korean medicine.

자폐성장애 학생의 사회적 기술 향상을 위한 상황이야기 애플리케이션 개발 (Development of the Social Story Application Designed to Improve the Social Skills of Students with ASD)

  • 김소리;강옥려
    • 창의정보문화연구
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    • 제5권3호
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    • pp.329-343
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    • 2019
  • 본 연구에서는 자폐성장애 학생들의 사회적 기술 향상을 위한 상황이야기 중재 콘텐츠를 담은 모바일 애플리케이션을 개발하고 평가하였다. 본 연구를 위해 자폐성장애 학생을 지도해 본 경험이 있는 교사 20명을 대상으로 요구조사를 실시하여 애플리케이션의 필요성을 확인하였고, 요구조사의 결과를 바탕으로 자폐성장애 학생의 특성과 요구를 고려한 모바일 애플리케이션을 개발하였다. 개발된 애플리케이션은 안드로이드 앱 스토어에 심사를 거쳐 등록하고, 현장 교사 10명에게 휴리스틱 사용성 평가를 진행하였다. 평가 결과 교육적 가치, 콘텐츠 구현 기술, 콘텐츠 정보 및 편의성 영역에서 모두 '매우 양호'에 가까운 결과를 얻었으며, 평가 결과에서 제시된 보완해야 할 사항들을 반영하여 애플리케이션을 완성하였다. 본 연구는 장애 학생의 사회적 기술 지도와 관련된 소프트웨어가 전무한 실정에서 관련 소프트웨어 개발 연구 활성화에 토대가 될 것으로 기대된다.

Prenatal and Perinatal Antibiotic Exposure and Long-Term Outcome

  • Thomas Gestels;Yvan Vandenplas
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • 제26권3호
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    • pp.135-145
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    • 2023
  • Antibiotics are frequently administered during pregnancy. Although necessary to address acute infections, their use facilitates antibiotic resistance. Other associations have also been found with the use of antibiotics, such as perturbations of gut bacteria, delays in microbial maturation, and increased risks of allergic and inflammatory diseases. Little is known about how the prenatal and perinatal administration of antibiotics to mothers affects the clinical outcomes of their offspring. A literature search was conducted of the Cochrane, Embase, and PubMed engines. The retrieved articles were reviewed by two authors and verified for relevance. The primary outcome was the effect of pre- and perinatal maternal antibiotic use on clinical outcomes. Thirty-one relevant studies were included in the meta-analysis. Various aspects are discussed, including infections, allergies, obesity, and psychosocial factors. In animal studies, antibiotic intake during pregnancy has been suggested to cause long-term alterations in immune regulation. In humans, associations have been found between antibiotic intake during pregnancy and different types of infections and an increased risk of pediatric infection-related hospitalization. A dose-dependent positive association between pre- and perinatal antibiotic use and asthma severity has been reported in animal and human studies, while positive associations with atopic dermatitis and eczema were reported by human studies. Multiple associations were identified between antibiotic intake and psychological problems in animal studies; however, relevant data from human studies are limited. However, one study reported a positive association with autism spectrum disorders. Multiple animal and human studies reported a positive association between pre- and perinatal antibiotic use by mothers and diseases in their offspring. Our findings have potentially significant clinical relevance, particularly considering the implications for health during infancy and later in life as well as the related economic burden.