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  • Open Access

    ARTICLE

    Factors Affecting the Genetic Diagnostic Rate in Congenital Heart Disease

    Jun Sung Park1, Go Hun Seo2, Yunha Choi1, Soojin Hwang1, Minji Kang3, Hyo-Sang Do3, Young-Hwue Kim4, Jeong Jin Yu4, Ellen Ai-Rhan Kim5, Euiseok Jung5, Byong Sop Lee5, Jae Suk Baek4, Beom Hee Lee1,6,*

    Congenital Heart Disease, Vol.17, No.6, pp. 653-673, 2022, DOI:10.32604/chd.2022.021580

    Abstract Background: Over 400 genes contribute to the development of congenital heart disease (CHD). Additionally, multisystemic manifestations accompanying syndromic CHD pose a higher risk of genetic diseases. This study investigated the diagnostic yield of whole-exome sequencing (WES) in patients with sporadic syndromic CHD and the phenotypic factors affecting the genetic diagnostic rate. Methods: Sixty-four patients with sporadic syndromic CHD aged <18 years underwent WES between May 2018 and December 2020 in a single tertiary center, and the association between genetic testing data and extracardiac phenotypes was analyzed. Results: Extracardiac phenotypes were measured as 3.66 ± 3.05 (standard deviation, interquartile range: 2–5)… More > Graphic Abstract

    Factors Affecting the Genetic Diagnostic Rate in Congenital Heart Disease

  • Open Access

    ARTICLE

    Mental Health Disorders of the Indonesian People in the Early Stages of the COVID-19 Pandemic: Who is Vulnerable to Experiencing it?

    Rofingatul Mubasyiroh1,*, Indri Yunita Suryaputri1, Sri Idaiani2, Lely Indrawati1, Tri Wurisastuti1, Siti Isfandari1, Nikson Sitorus1, Enung Nurhotimah3, Felly Philipus Senewe1

    International Journal of Mental Health Promotion, Vol.24, No.5, pp. 725-737, 2022, DOI:10.32604/ijmhp.2022.021452

    Abstract The extraordinary situation related to COVID-19 makes people worry about their health, family health, work, finances, and other daily activities. This condition can lead to social unrest, which has consequences for mental health problems. This study aims to determine the mental health consequences at the beginning of the COVID-19 pandemic in Indonesia. This is a cross-sectional study involving a target population aged 18 years and over who had access to electronic communication devices. An online questionnaire was randomly distributed and snowballed throughout 34 provinces in Indonesia. The study was conducted from 2 to 4 May 2020. Non-parametric and multivariate linear… More >

  • Open Access

    ARTICLE

    Pathway Mutations in Breast Cancer Using Whole-Exome Sequencing

    Ya-Sian Chang*†‡§, Chieh-Min Chang†‡, Chien-Yu Lin¶#, Dy-San Chao, Hsi-Yuan Huang, Jan-Gowth Chang*†‡**††

    Oncology Research, Vol.28, No.2, pp. 107-116, 2020, DOI:10.3727/096504019X15698362825407

    Abstract The genomic landscape of breast cancer (BC) is complex. The purpose of this study was to decipher the mutational profiles of Taiwanese patients with BC using next-generation sequencing. We performed whole-exome sequencing on DNA from 24 tumor tissue specimens from BC patients. Sanger sequencing was used to validate the identified variants. Sanger sequencing was also performed on paired adjacent nontumor tissues. After genotype calling and algorithmic annotations, we identified 49 deleterious variants in canonical cancer-related genes in our BC cohort. The most frequently mutated genes were PIK3CA (16.67%), FKBP9 (12.5%), TP53 (12.5%), ATM (8.33%), CHEK2 (8.33%), FOXO3 (8.33%), NTRK1More >

  • Open Access

    BRIEF COMMUNICATION

    Outcomes of Patients With Acute Myeloid Leukemia Who Relapse After 5 Years of Complete Remission

    Arisha Patel, Mounzer Agha, Anastasios Raptis, Jing-Zhou Hou, Rafic Farah, Robert L. Redner, Annie Im, Kathleen A. Dorritie, Alison Sehgal, James Rossetti, Melissa Saul, Daniel Normolle, Konstantinos Lontos, Michael Boyiadzis

    Oncology Research, Vol.28, No.7-8, pp. 811-814, 2020, DOI:10.3727/096504020X15965357399750

    Abstract Leukemia relapse 5 years after achieving first complete remission (CR1) is uncommon in patients with acute myeloid leukemia (AML). In this study, we evaluated the outcomes of AML patients with late relapse at our institution and reviewed the literature for these patients. The study cohort consisted of nine AML patients with late relapse. The median interval between CR1 and AML relapse was 6.1 years (range: 5.1–16.2 years). At relapse, the karyotype was different from the initial AML diagnosis in 50% of patients. At the time of AML relapse, seven patients received induction chemotherapy and two patients received hypomethylating agents with… More >

  • Open Access

    ARTICLE

    Predictors of Health-Related Quality of Life in Children with Cyanotic Heart Disease Who Underwent Palliative and Total Repair

    Jutarat Tanasansuttiporn1, Maliwan Oofuvong1,*, Wirat Wasinwong1, Voravit Chittithavorn2, Pongsanae Duangpakdee2, Jirayut Jarutach3, Qistina Yunuswangsa1

    Congenital Heart Disease, Vol.17, No.3, pp. 245-267, 2022, DOI:10.32604/chd.2022.021778

    Abstract Background: Studies on predictors of health-related quality of life (HRQOL) in pediatric patients with cyanotic heart disease who are waiting for the next stage and those who have undergone total repair are scarce. Therefore, we aimed to identify such predictors in children who received the modified Blalock–Taussig shunt (MBTS) and those who underwent total repair. Methods: In this historical cohort and concurrent follow-up study, data of children who underwent MBTS at the age of 0–3 years between January 2005 and December 2016 at a super-tertiary care hospital in Southern Thailand were obtained. Children who were alive in December 2017 were… More > Graphic Abstract

    Predictors of Health-Related Quality of Life in Children with Cyanotic Heart Disease Who Underwent Palliative and Total Repair

  • Open Access

    ARTICLE

    Distribution Network Equipment Location and Capacity Planning Method Considering Energy Internet Attribute from the Perspective of Life Cycle Cost

    Qiang Li1,*, Lei Xue1, Xia Lin2

    Energy Engineering, Vol.119, No.3, pp. 1059-1074, 2022, DOI:10.32604/ee.2022.017687

    Abstract For facing the challenges brought by large-scale renewable energy having access to the system and considering the key technologies of energy Internet, it is very necessary to put forward the location method of distribution network equipment and capacity from the perspective of life cycle cost. Compared with the traditional energy network, the equipment capacity problem of energy interconnected distribution network which involves in electricity network, thermal energy network and natural gas network is comprehensively considered in this paper. On this basis, firstly, the operation architecture of energy interconnected distribution network is designed. Secondly, taking the grid connection location and configuration… More >

  • Open Access

    ARTICLE

    Establishment of a Coupling Model for the Prediction of Heat Dissipation of the Internal Combustion Engine Based on Finite Element

    Hongyu Mu1,2,*, Yinyan Wang1, Hong Teng2, Xingtian Zhao2, Xiaolong Zhang2, Yan Jin2, Shiyang Hao2, Jingfeng Zhao2

    Energy Engineering, Vol.119, No.3, pp. 1103-1116, 2022, DOI:10.32604/ee.2022.017273

    Abstract The aerodynamics and heat transfer performance in the rear-mounted automobile cabin have an important influence on the engine's safety and the operational stability of the automobile. The article uses STAR-CCM and GT-COOL software to establish the 3D wind tunnel model and engine cooling system model of the internal combustion engine. At the same time, we established a 3D artificial coupling model through parameter transfer. The research results show that the heat transfer coefficient decreases with the increase of the comprehensive drag coefficient of the nacelle. This shows that the cabin flow field has an important influence on the heat transfer… More >

  • Open Access

    REVIEW

    The Integrated Histopathologic and Molecular Approach to Adult-type Diffuse Astrocytomas: Status of the Art, Based on the 2021 WHO Classification of Central Nervous System Tumors

    Hiba Alzoubi1, Alameen Alsabbah2, Rosario Caltabiano3, Giuseppe Broggi3,*

    Oncologie, Vol.24, No.1, pp. 51-63, 2022, DOI:10.32604/oncologie.2022.020890

    Abstract The 2021 World Health Organization (WHO) Classification of Tumors of the Central Nervous System (CNS) improved our understanding of the brain neoplasm biology. In more details, differences between diffuse gliomas that primarily occur in adults and those that primarily occur in children have been identified by the terms “adult-type” and “pediatric-type” diffuse gliomas. More importantly, both diagnostic and grading criteria for adult-type diffuse astrocytomas have been modified, by adopting novel molecular markers: diffuse astrocytomas, IDH-mutant have been grouped into a single entity and graded as CNS WHO grades 2, 3, or 4, with the assignment of Grade 4 in the… More >

  • Open Access

    ARTICLE

    Combined Effects of Exposure to Noise and Vibration on Human Postural Equilibrium under Simulated Driving Conditions

    Seyyed Mohammad Javad Golhosseini1, Mohsen Aliabadi2,*, Rostam Golmohammadi3, Maryam Farhadian4, Mehdi Akbari5, Morteza Hamidi Nahrani6, Mehdi Samavati7

    Sound & Vibration, Vol.56, No.1, pp. 37-49, 2022, DOI:10.32604/sv.2022.014616

    Abstract There is little information about drivers’ body balance responses to combined exposure of noise and vibration. To fill the gap, this study aims to investigate the combined effects of exposure to noise and whole-body vibration (WBV) on the body balance under simulated driving conditions. For this purpose, 30 male participants were exposed to noise level at 85 dB(A) and two vibration levels (0.87 and 1.3 m/s2) in five sessions. The design of the study was repeated-measures, and it attempted to assess the effects of 40 minutes of exposure to noise and/or WBV. Moreover, the participants’ fatigue was measured with the… More >

  • Open Access

    ARTICLE

    Study on the Whole Process Simulation and Regulation Mechanism of Urban Green Ecological Rainwater Drainage System

    Lu Cao, Li Huang, Penghe Zhao, Yuling Liu*

    CMES-Computer Modeling in Engineering & Sciences, Vol.129, No.2, pp. 787-803, 2021, DOI:10.32604/cmes.2021.016226

    Abstract In view of the frequent waterlogging caused by rapid urbanization and the public’s dissatisfaction with the drainage system, the article based on the concept of the green ecological drainage system, constructed the urban green ecological drainage comprehensive simulation research system, and quickly evaluated pipe network operation and surface water of an industrial park under typical rainfall conditions. The results showed that the drainage capacity of the designed green ecological rainwater drainage system reached 100%, and there was no ponding phenomenon, which indicated that the green ecological rainwater drainage system could effectively solve the practical problems of urban drainage. The green… More >

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