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Clinical utility of whole genome sequencing for the detection of mitochondrial genome mutations
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作者 Ammar Husami Jesse Slone +3 位作者 Jenice Brown Meghan Bromwell C.Alexander Valencia Taosheng Huang 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2020年第3期167-169,共3页
Genetic mitochondrial disorders are a heterogenous group of multi-system disorders caused by an imbalance in mitochondrial function(Moggio et al.,2014;Wallace,2018).In contrast to the nuclear genome,each cell contains... Genetic mitochondrial disorders are a heterogenous group of multi-system disorders caused by an imbalance in mitochondrial function(Moggio et al.,2014;Wallace,2018).In contrast to the nuclear genome,each cell contains hundreds,or even thousands,of mtDNA molecules(Veltri et al.,1990;Calvo et al.,2006).Thus,a mixture of different mtDNA sequences can co-exist within the same individual,a situation referred to as he terop las my.The level of heteroplasmy in an individual often affects the penetrance and phenotypic severity of the diseases.Consequently,detection of sequence heteroplasmy is essential for the proper clinical interpretation of mitochondrial diseases(Stewart and Chinnery,2015). 展开更多
关键词 MTDNA clinical utility sequencing for the detection
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Clinical Utilization of Nursing Process in Improving Patient’s Outcome and Its Associated Factors: A Cross-Sectional Study among Nurses and Midwives Working at Njombe Regional Referral Hospital, Tanzania
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作者 Evaristus P. Makota Winfred P. Kyambile +2 位作者 Vinogelaki Seif Ashery Mwalukolo Emmanuel Ulomi 《Open Journal of Nursing》 2023年第8期537-550,共14页
Background: Improvement of patient care in any hospital depends primarily on the quality of nursing care. Nursing care is enhanced by the nursing process, which outlines the nursing activities to be provided for a pat... Background: Improvement of patient care in any hospital depends primarily on the quality of nursing care. Nursing care is enhanced by the nursing process, which outlines the nursing activities to be provided for a patient. Methods and Materials: A cross sectional design employing quantitative methods was conducted in Njombe RRH in December 2021. Quantitative data were collected from nurses and midwives from all wards by simple random sampling techniques using a sample-size calculator. SPSS version 26.0 was used to analyse data whereby a p-value of 0.05 was considered a decision mark for the significance of the result;Chi-square and Logistic regression respectively were used to find out the association and its strength between variables. Result: Majority of the respondents, 41 (85.4%), had inadequate knowledge and 33 (68.8%) found them people with a negative attitude to the nursing process. Significantly, there is an association between knowledge and clinical utilization (AOR 2.24;95% CI: 1.6 - 2.5;P 0.04), attitude and clinical utilization (AOR 4.32;95% CI: 1.8 - 3.7;P Conclusion: A knowledge gap in relation to the utilization of the nursing process and a negative attitude were noted to be associated significantly with the utilization of the nursing process among nurses and midwives. It is recommended on-job training, supportive supervision, and Value Clarification and Attitude Transformation (VCAT) are the best interventions to address the knowledge gap and negative attitudes respectively. 展开更多
关键词 clinical Utilization Knowledge Attitude Patient’s Outcome Nursing Process
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From prediction to prevention:Machine learning revolutionizes hepatocellular carcinoma recurrence monitoring
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作者 Mariana Michelle Ramírez-Mejía Nahum Méndez-Sánchez 《World Journal of Gastroenterology》 SCIE CAS 2024年第7期631-635,共5页
In this editorial,we comment on the article by Zhang et al entitled Development of a machine learning-based model for predicting the risk of early postoperative recurrence of hepatocellular carcinoma.Hepatocellular ca... In this editorial,we comment on the article by Zhang et al entitled Development of a machine learning-based model for predicting the risk of early postoperative recurrence of hepatocellular carcinoma.Hepatocellular carcinoma(HCC),which is characterized by high incidence and mortality rates,remains a major global health challenge primarily due to the critical issue of postoperative recurrence.Early recurrence,defined as recurrence that occurs within 2 years posttreatment,is linked to the hidden spread of the primary tumor and significantly impacts patient survival.Traditional predictive factors,including both patient-and treatment-related factors,have limited predictive ability with respect to HCC recurrence.The integration of machine learning algorithms is fueled by the exponential growth of computational power and has revolutionized HCC research.The study by Zhang et al demonstrated the use of a groundbreaking preoperative prediction model for early postoperative HCC recurrence.Challenges persist,including sample size constraints,issues with handling data,and the need for further validation and interpretability.This study emphasizes the need for collaborative efforts,multicenter studies and comparative analyses to validate and refine the model.Overcoming these challenges and exploring innovative approaches,such as multi-omics integration,will enhance personalized oncology care.This study marks a significant stride toward precise,efficient,and personalized oncology practices,thus offering hope for improved patient outcomes in the field of HCC treatment. 展开更多
关键词 Hepatocellular carcinoma Early recurrence Machine learning XGBoost model Predictive precision medicine clinical utility Personalized interventions
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Patients’perspectives on the conventional synthetic cast vs a newly developed open cast for ankle sprains
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作者 Byung Cho Min Ji Soo Yoon +3 位作者 Chin Youb Chung Moon Seok Park Ki Hyuk Sung Kyoung Min Lee 《World Journal of Orthopedics》 2020年第11期492-498,共7页
BACKGROUND Orthopedic physicians typically apply a cast to immobilize a body part that has been injured.There have been no significant structural changes or advances in synthetic casts since the development of the mod... BACKGROUND Orthopedic physicians typically apply a cast to immobilize a body part that has been injured.There have been no significant structural changes or advances in synthetic casts since the development of the modern cast.The Opencast®is a recently developed type of cast that allows ventilation and direct visual inspection of the skin to avoid cast-related complications.Although this novel cast appears to have more benefits than the conventional synthetic cast,its clinical efficacy and advantages have not been established.AIM To investigate the clinical efficacy and advantages of the newly developed Opencast®based on patients’perspectives in those with ankle inversion injury.METHODS A specifically designed questionnaire consisting of 19 items was used to compare patients’opinions and concerns of the Opencast®and the conventional synthetic cast.The items were focused on subjective patient satisfaction,discomfort,and adverse effects while wearing the cast.Patients with an ankle inversion injury diagnosed as a high-grade ankle sprain were enrolled.The subjects were randomized and instructed to fill the questionnaire after wearing a synthetic cast or an Opencast®for 2 wk.They were then required to fill the questionnaire again,after switching to the alternative type of cast for 2 more weeks.RESULTS A total of 22 subjects participated in the study.The synthetic cast appeared to be more rigid and stable than the Opencast®,but there was no significant difference in the amount of pain relief.The likelihood of adverse effects when wearing the synthetic cast was significantly higher.Patient satisfaction tended to be rated higher after wearing the Opencast®.Opencast®showed more subjective vulnerability than the synthetic cast,but there was no significant difference in the redo rate.Patients were more anxious about removal of the synthetic cast than of the Opencast®.CONCLUSION The results indicate that the Opencast®could replace the conventional synthetic cast as it offers increased patient satisfaction,which would in turn increase compliance to treatment. 展开更多
关键词 clinical utility Comparison Open cast Conventional cast Cast material Ankle sprain
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PIWI-interacting RNAs: Mitochondria-based biogenesis and functions in cancer 被引量:2
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作者 Jingfen Su Anthony Concilla +4 位作者 Dianzheng Zhang Fang Zhao Fangfang Shen Hao Zhang Fuyou Zhou 《Genes & Diseases》 SCIE 2021年第5期603-622,共20页
PIWI-interacting RNA(piRNAs),once thought to be mainly functioning in germlines,are now known to play an essential role in somatic and cancerous tissues.Ping-pong cycle initi-ation and mitochondria-based phased produc... PIWI-interacting RNA(piRNAs),once thought to be mainly functioning in germlines,are now known to play an essential role in somatic and cancerous tissues.Ping-pong cycle initi-ation and mitochondria-based phased production constitute the core of the piRNA biogenesis and these two processes are well conserved in mammals,including humans.By being involved in DNA methylation,histone marker deposition,mRNA degradation,and protein modification,piRNAs also contribute to carcinogenesis partly due to oncogenic stress-induced piRNA dysre-gulation.Also,piRNAs play important roles in cancer stemness,drug resistance,and tumor immunology.Results from liquid biopsy analysis of piRNA can be used in both cancer diagnoses and cancer prognoses.A combination of targeting piRNA with other therapeutic strategies could be groundbreaking cancer treatment. 展开更多
关键词 Carcinogenesis clinical utility Mitochondria-based phased production Ping-pong cycle Piwi-interacting RNAs
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