• 제목/요약/키워드: Multiple abnormalities

검색결과 193건 처리시간 0.026초

An update of preimplantation genetic diagnosis in gene diseases, chromosomal translocation, and aneuploidy screening

  • Chang, Li-Jung;Chen, Shee-Uan;Tsai, Yi-Yi;Hung, Chia-Cheng;Fang, Mei-Ya;Su, Yi-Ning;Yang, Yu-Shih
    • Clinical and Experimental Reproductive Medicine
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    • 제38권3호
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    • pp.126-134
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    • 2011
  • Preimplantation genetic diagnosis (PGD) is gradually widely used in prevention of gene diseases and chromosomal abnormalities. Much improvement has been achieved in biopsy technique and molecular diagnosis. Blastocyst biopsy can increase diagnostic accuracy and reduce allele dropout. It is cost-effective and currently plays an important role. Whole genome amplification permits subsequent individual detection of multiple gene loci and screening all 23 pairs of chromosomes. For PGD of chromosomal translocation, fluorescence $in-situ$ hybridization (FISH) is traditionally used, but with technical difficulty. Array comparative genomic hybridization (CGH) can detect translocation and 23 pairs of chromosomes that may replace FISH. Single nucleotide polymorphisms array with haplotyping can further distinguish between normal chromosomes and balanced translocation. PGD may shorten time to conceive and reduce miscarriage for patients with chromosomal translocation. PGD has a potential value for mitochondrial diseases. Preimplantation genetic haplotyping has been applied for unknown mutation sites of single gene disease. Preimplantation genetic screening (PGS) using limited FISH probes in the cleavage-stage embryo did not increase live birth rates for patients with advanced maternal age, unexplained recurrent abortions, and repeated implantation failure. Polar body and blastocyst biopsy may circumvent the problem of mosaicism. PGS using blastocyst biopsy and array CGH is encouraging and merit further studies. Cryopreservation of biopsied blastocysts instead of fresh transfer permits sufficient time for transportation and genetic analysis. Cryopreservation of embryos may avoid ovarian hyperstimulation syndrome and possible suboptimal endometrium.

Comparison of male reproductive parameters in mice with type 1 and type 2 diabetes

  • Sampannang, Apichakan;Arun, Supatcharee;Burawat, Jaturon;Sukhorum, Wannisa;Iamsaard, Sitthichai
    • Clinical and Experimental Reproductive Medicine
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    • 제47권1호
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    • pp.20-33
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    • 2020
  • Objective: The differences between type 1 and type 2 diabetes mellitus (T1DM and T2DM) in terms of their adverse effects on male reproductive parameters have never been elucidated. This study aimed to distinguish between the effects of the DM types in mice treated with multiple low doses of streptozotocin (STZ) to mimic human T1DM and coadministered a high-fat diet (HFD) to mimic human T2DM. Methods: The T1DM mice were intraperitoneally injected with STZ (40 mg/kg body weight) for 5 days. The T2DM mice received an HFD for 14 days prior to STZ injection (85 mg/kg body weight), followed by continuous feeding of an HFD. Male reproductive parameters were evaluated. Results: The reproductive organs of the DM mice weighed significantly less than those of controls, and the seminal vesicles plus prostates of the T1DM mice weighed less than those of the T2DM mice. Increased sperm abnormalities and incomplete DNA packaging were observed in the DM groups. Sperm concentration and the proportion of normal sperm were significantly lower in the T1DM group. The seminiferous histopathology of DM mice was classified into seven types. The penises of the DM mice were smaller than those of the controls; however, tunica albuginea thickness and the amount of penile collagen fibers were increased in these mice. Round germ cells were abundant in the epididymal lumens of the mice with DM. Conclusion: T1DM adversely affected reproductive parameters to a greater extent than T2DM.

후비공 폐쇄 2례 (2 Cases of Bilateral Choanal Atresia)

  • 심강석;이석용;문태용;윤강묵
    • 대한기관식도과학회:학술대회논문집
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    • 대한기관식도과학회 1983년도 제17차 학술대회연제순서 및 초록
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    • pp.18.3-19
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    • 1983
  • 후비공 폐쇄는 협비막의 과열부전, 협인두막의 지속적 잔존, Olfactory pit의 발생시 불완전 등의 선천성 원인과, 매독디프테리아, 수술 후 또는 외상 등으로 오는 후천성으로 나눌 수 있으며 선천성인 경우에는 두부, 심장, 소화기 계통에 여러 가지 기형이 동반되기도 한다. Johann Roedere (1755년)은 이 질환의 예를 최초로 보고하였으며 Emmert (1853년)가 골성 폐쇄를 트로카를 이용하여 처음 수술을 시도한 이래 , 비강내, 구개, 상악동, 그리고 비중격을 통한 수술 방법이 제시되어 왔으나 이중 경주개 경유법이 술후 재협착 빈도가 가장 적고 또 수술시 폐쇄부의 확인이 용이하여 가장 널리 이용되고 있다. 저자들은 선천성 양측 부분적 골부 후비공 폐쇄를 보인 11세 남아와 선친성 우측 완전 골막부 후비공 폐쇄와 좌측 부분적 골막부 후비공 폐쇄와 좌측 부분적 골막부 후비공 폐쇄를 보인 9세 여아에서 경구개 경유법으로 치험하였기에 문헌적 고찰과 함께 보고하는 바이다.

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Detection of Lung Nodule on Temporal Subtraction Images Based on Artificial Neural Network

  • Tokisa, Takumi;Miyake, Noriaki;Maeda, Shinya;Kim, Hyoung-Seop;Tan, Joo Kooi;Ishikawa, Seiji;Murakami, Seiichi;Aoki, Takatoshi
    • International Journal of Fuzzy Logic and Intelligent Systems
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    • 제12권2호
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    • pp.137-142
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    • 2012
  • The temporal subtraction technique as one of computer aided diagnosis has been introduced in medical fields to enhance the interval changes such as formation of new lesions and changes in existing abnormalities on deference image. With the temporal subtraction technique radiologists can easily detect lung nodules on visual screening. Until now, two-dimensional temporal subtraction imaging technique has been introduced for the clinical test. We have developed new temporal subtraction method to remove the subtraction artifacts which is caused by mis-registration on temporal subtraction images of lungs on MDCT images. In this paper, we propose a new computer aided diagnosis scheme for automatic enhancing the lung nodules from the temporal subtraction of thoracic MDCT images. At first, the candidates regions included nodules are detected by the multiple threshold technique in terms of the pixel value on the temporal subtraction images. Then, a rule-base method and artificial neural networks is utilized to remove the false positives of nodule candidates which is obtained temporal subtraction images. We have applied our detection of lung nodules to 30 thoracic MDCT image sets including lung nodules. With the detection method, satisfactory experimental results are obtained. Some experimental results are shown with discussion.

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 a mobile healthcare service provided by public health centers on practicing of health behaviors and health risk factors

  • Kim, Tae-Yon;Lee, Yun-Su;Yu, Eun-Jung;Kim, Min-Su;Yang, Sun-Young;Hur, Yang-Im;Kang, Jae-Heon
    • Nutrition Research and Practice
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    • 제13권6호
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    • pp.509-520
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    • 2019
  • BACKGROUND/OBJECTIVES: This study evaluated whether a mobile health (mHealth) application can instigate healthy behavioral changes and improvements in metabolic disorders in individuals with metabolic abnormalities. SUBJECTS/METHODS: Participants were divided into an mHealth intervention group (IG), which used a mobile app for 24 weeks, and a conventional IG. All mobile apps featured activity monitors, with blood pressure and glucose monitors, and body-composition measuring devices. The two groups were compared after 24 weeks in terms of health-behavior practice rate and changes in the proportion of people with health risks, and health behaviors performed by the IG that contributed to reductions in more than one health risk factor were analyzed using multiple logistic regression. RESULTS: Preference for low-sodium diet, reading nutritional facts, having breakfast, and performing moderate physical activity significantly increased in the mHealth IG. Furthermore, the mHealth IG showed a significant increase of eight items in the mini-dietary assessment; particularly, the items "I eat at least two types of vegetables of various colors at every meal" and "I consume dairies, such as milk, yogurt, and cheese, every day." The proportion of people with health risks, with the exception of fasting glucose, significantly decreased in the mHealth IG, while only the proportion of people with at-risk triglycerides and waist circumference of females significantly decreased in the control group. Finally, compared to those who did not show improvements of health risks, those who showed improvements of health risks in the mHealth IG had an odds ratio of 1.61 for moderate to vigorous physical activity, 1.65 for "I do not add more salt or soy sauce in my food," and 1.77 for "I remove fat in my meat before eating." CONCLUSIONS: The findings suggest that the additional use of a community-based mHealth service through a mobile application is effective for improving health behaviors and lowering metabolic risks in Koreans.

Occupational Health Policies on Risk Assessment in Japan

  • Horie, Seichi
    • Safety and Health at Work
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    • 제1권1호
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    • pp.19-28
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    • 2010
  • Industrial Safety and Health Law (ISH Law) of Japan requires abnormalities identified in evaluations of worker health and working environments are reported to occupational physicians, and employers are advised of measures to ensure appropriate accommodations in working environments and work procedures. Since the 1980s, notions of a risk assessment and occupational safety and health management system were expected to further prevent industrial accidents. In 2005, ISH Law stipulated workplace risk assessment using the wording "employers shall endeavor." Following the amendment, multiple documents and guidelines for risk assessment for different work procedures were developed. They require ISH Laws to be implemented fully and workplaces to plan and execute measures to reduce risks, ranking them from those addressing potential hazards to those requiring workers to wear protective articles. A governmental survey in 2005 found the performance of risk assessment was 20.4% and common reasons for not implementing risk assessments were lack of adequate personnel or knowledge. ISH Law specifies criminal penalties for both individuals and organizations. Moreover, under the Labor Contract Law promulgated in 2007, employers are obliged to make reasonable efforts to ensure employee health for foreseeable and avoidable risks. Therefore, enterprises neglecting even the non-binding provisions of guidelines are likely to suffer significant business impact if judged to be responsible for industrial accidents or occupational disease. To promote risk assessment, we must strengthen technical, financial, and physical support from public-service organizations, encourage the dissemination of good practices to reduce risks, and consider additional employer incentives, including relaxed mandatory regulations.

Single cell heterogeneity in human pluripotent stem cells

  • Yang, Seungbok;Cho, Yoonjae;Jang, Jiwon
    • BMB Reports
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    • 제54권10호
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    • pp.505-515
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    • 2021
  • Human pluripotent stem cells (hPSCs) include human embryonic stem cells (hESCs) derived from blastocysts and human induced pluripotent stem cells (hiPSCs) generated from somatic cell reprogramming. Due to their self-renewal ability and pluripotent differentiation potential, hPSCs serve as an excellent experimental platform for human development, disease modeling, drug screening, and cell therapy. Traditionally, hPSCs were considered to form a homogenous population. However, recent advances in single cell technologies revealed a high degree of variability between individual cells within a hPSC population. Different types of heterogeneity can arise by genetic and epigenetic abnormalities associated with long-term in vitro culture and somatic cell reprogramming. These variations initially appear in a rare population of cells. However, some cancer-related variations can confer growth advantages to the affected cells and alter cellular phenotypes, which raises significant concerns in hPSC applications. In contrast, other types of heterogeneity are related to intrinsic features of hPSCs such as asynchronous cell cycle and spatial asymmetry in cell adhesion. A growing body of evidence suggests that hPSCs exploit the intrinsic heterogeneity to produce multiple lineages during differentiation. This idea offers a new concept of pluripotency with single cell heterogeneity as an integral element. Collectively, single cell heterogeneity is Janus-faced in hPSC function and application. Harmful heterogeneity has to be minimized by improving culture conditions and screening methods. However, other heterogeneity that is integral for pluripotency can be utilized to control hPSC proliferation and differentiation.

Feeding pattern, biochemical, anthropometric and histological effects of prolonged ad libitum access to sucrose, honey and glucose-fructose solutions in Wistar rats

  • Virgen-Carrillo, Carmen Alejandrina;Moreno, Alma Gabriela Martinez;Rodriguez-Gudino, Juan Jose;Pineda-Lozano, Jessica Elizabeth
    • Nutrition Research and Practice
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    • 제15권2호
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    • pp.187-202
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    • 2021
  • BACKGROUND/OBJECTIVES: The exposure to sucrose in rats has mimic abnormalities attributed to metabolic syndrome (MetS). The effects of honey bee and "free" glucose and fructose, have not been explored in this context. The aim was to expose Wistar rodents to sucrose solution (SS), honey solution (HS) and fructose/glucose solution (GFS) at 30% to assess their effects. SUBJECTS/METHODS: HS (n = 10), SS (n = 10) and GFS (n = 10) groups were formed. Solutions were ad libitum along 14-weeks. RESULTS: Between solutions consumptions, honey was significantly 42% higher (P = 0.000), while similar consumption was observed among GFS and SS. The feeding pattern of HS consumption was irregular along experiment; while the food intake pattern showed the similar trend among groups along time. Non statistical differences were obtained in any biochemical and anthropometric measure, however, a higher concentration of leptin (721 ± 507 pg/mL), lower concentration of total cholesterol (TC; 48.87 ± 2.41 mg/100 mL), very low density lipoprotein (VLDL; 16.47 ± 6.55 mg/100 mL) and triglycerides (82.37 ± 32.77 mg/100 mL) was obtained in SS group. For anthropometric values, HS showed less total adipose tissue (AT; average 26 vs. 31-33 g) and adiposity index (average 6.11 vs. 7.6). Due to sugar-sweetened beverages consumption increases the risk for the development of chronic diseases; correlations between fluid intake and anthropometric and biochemical parameters were assessed. A moderate correlation was obtained in groups with the weight of total AT and solution intake; for the weight gain in GFS group and for triglycerides in HS and GFS. The highest hepatic tissue damage was observed in SS group with multiple intracytoplasmic vacuoles, atypia changes, moderate pleomorphism and hepatocellular necrosis. CONCLUSIONS: In spite of the significantly higher consumption of HS, biochemical, anthropometrical and histological effects were not remarkably different in comparision to other sweeteners.

스마트 디바이스를 활용한 노약자 근감소증 진단과 딥러닝 알고리즘 (Diagnosis of Sarcopenia in the Elderly and Development of Deep Learning Algorithm Exploiting Smart Devices)

  • 윤영욱;손정우
    • 한국재난정보학회 논문집
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    • 제18권3호
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    • pp.433-443
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    • 2022
  • 연구목적: 본 논문에서는 스마트 디바이스의 높은 보급률을 활용하여 근감소증을 추정 및 예측하는 딥러닝 알고리즘을 제안과 연구를 수행한다. 연구방법: 딥러닝 학습을 위해 스마트 디바이스에 내장된 관성센서를 활용하여 실험 데이터를 수집하였다. 데이터를 수집하는 테스트용 어플리케이션 구현하여 '정상'과 '비정상'걸음과 '달리기', '낙상', '스쿼트' 자세의 5 가지 상태를 구분하여 데이터를 수집하였다. 연구결과: LSTM, CNN, RNN model 사용 시 예측 정확도를 분석했고 CNN-LSTM 융합형 모델을 활용하여 이진분류 정확도 99.87%, 다중 분류 92.30%의 정확도를 보였다. 결론: 근감소증이 있는 사람의 경우 걸음걸이의 이상이 생긴다는 점에 착안하여 스마트 디바이스를 활용한 연구를 진행하였다. 본 연구를 활용하여 근감소증으로 인해 생기는 재난안전을 강화 할 수 있을 것이다.