1.A Case Report of Multidisciplinary Diagnosis and Treatment of a Patient with Tuberous Sclerosis Complex and Multi-Organ Involvement
Hua ZHENG ; Yunfei ZHI ; Lujing YING ; Lan ZHU ; Mingliang JI ; Ze LIANG ; Jiangshan WANG ; Haifeng SHI ; Weihong ZHANG ; Mengsu XIAO ; Yushi ZHANG ; Kaifeng XU ; Zhaohui LU ; Yaping LIU ; Ruiyi XU ; Huijuan ZHU ; Li WEN ; Yan ZHANG ; Gang CHEN ; Limeng CHEN
JOURNAL OF RARE DISEASES 2024;3(1):79-86
Tuberous sclerosis complex(TSC)is a rare genetic disease that can lead to benign dysplasia in multiple organs such as the skin, brain, eyes, oral cavity, heart, lungs, kidneys, liver, and bones. Its main symptoms include epilepsy, intellectual disabilities, skin depigmentation, and facial angiofibromas, whilst incidence is approximately 1 in 10 000 to 1 in 6000 newborns. This case presents a middle-aged woman who initially manifested with epilepsy and nodular depigmentation. Later, she developed a lower abdominal mass, elevated creatinine, and severe anemia. Based on clinical features and whole exome sequencing, the primary diagnosis was confirmed as TSC. Laboratory and imaging examinations revealed that the lower abdominal mass originated from the uterus. CT-guided biopsy pathology and surgical pathology suggested a combination of leiomyoma and abscess. With the involvement of multiple organs and various complications beyond the main diagnosis, the diagnostic and therapeutic process for this patient highlights the importance of rigorous clinical thinking and multidisciplinary collaboration in the diagnosis and treatment of rare and challenging diseases.
2.Nanomaterial-based Therapeutics for Biofilm-generated Bacterial Infections
Zhuo-Jun HE ; Yu-Ying CHEN ; Yang ZHOU ; Gui-Qin DAI ; De-Liang LIU ; Meng-De LIU ; Jian-Hui GAO ; Ze CHEN ; Jia-Yu DENG ; Guang-Yan LIANG ; Li WEI ; Peng-Fei ZHAO ; Hong-Zhou LU ; Ming-Bin ZHENG
Progress in Biochemistry and Biophysics 2024;51(7):1604-1617
Bacterial biofilms gave rise to persistent infections and multi-organ failure, thereby posing a serious threat to human health. Biofilms were formed by cross-linking of hydrophobic extracellular polymeric substances (EPS), such as proteins, polysaccharides, and eDNA, which were synthesized by bacteria themselves after adhesion and colonization on biological surfaces. They had the characteristics of dense structure, high adhesiveness and low drug permeability, and had been found in many human organs or tissues, such as the brain, heart, liver, spleen, lungs, kidneys, gastrointestinal tract, and skeleton. By releasing pro-inflammatory bacterial metabolites including endotoxins, exotoxins and interleukin, biofilms stimulated the body’s immune system to secrete inflammatory factors. These factors triggered local inflammation and chronic infections. Those were the key reason for the failure of traditional clinical drug therapy for infectious diseases.In order to cope with the increasingly severe drug-resistant infections, it was urgent to develop new therapeutic strategies for bacterial-biofilm eradication and anti-bacterial infections. Based on the nanoscale structure and biocompatible activity, nanobiomaterials had the advantages of specific targeting, intelligent delivery, high drug loading and low toxicity, which could realize efficient intervention and precise treatment of drug-resistant bacterial biofilms. This paper highlighted multiple strategies of biofilms eradication based on nanobiomaterials. For example, nanobiomaterials combined with EPS degrading enzymes could be used for targeted hydrolysis of bacterial biofilms, and effectively increased the drug enrichment within biofilms. By loading quorum sensing inhibitors, nanotechnology was also an effective strategy for eradicating bacterial biofilms and recovering the infectious symptoms. Nanobiomaterials could intervene the bacterial metabolism and break the bacterial survival homeostasis by blocking the uptake of nutrients. Moreover, energy-driven micro-nano robotics had shown excellent performance in active delivery and biofilm eradication. Micro-nano robots could penetrate physiological barriers by exogenous or endogenous driving modes such as by biological or chemical methods, ultrasound, and magnetic field, and deliver drugs to the infection sites accurately. Achieving this using conventional drugs was difficult. Overall, the paper described the biological properties and drug-resistant molecular mechanisms of bacterial biofilms, and highlighted therapeutic strategies from different perspectives by nanobiomaterials, such as dispersing bacterial mature biofilms, blocking quorum sensing, inhibiting bacterial metabolism, and energy driving penetration. In addition, we presented the key challenges still faced by nanobiomaterials in combating bacterial biofilm infections. Firstly, the dense structure of EPS caused biofilms spatial heterogeneity and metabolic heterogeneity, which created exacting requirements for the design, construction and preparation process of nanobiomaterials. Secondly, biofilm disruption carried the risk of spread and infection the pathogenic bacteria, which might lead to other infections. Finally, we emphasized the role of nanobiomaterials in the development trends and translational prospects in biofilm treatment.
3.Arterial Blood Pressure Wave Signal Reconstruction Using Photoplethysmography by CNN-LSTM Model
Jia-Ze WU ; Hao LIANG ; Ming CHEN
Progress in Biochemistry and Biophysics 2024;51(2):447-458
ObjectiveDirect continuous monitoring of arterial blood pressure is invasive and continuous monitoring cannot be achieved by traditional cuffed indirect blood pressure measurement methods. Previously, continuous non-invasive arterial blood pressure monitoring was achieved by using photoplethysmography (PPG), but it is discrete values of systolic and diastolic blood pressures rather than continuous values constructing arterial blood pressure waves. This study aimed to reconstruct arterial blood pressure wave signal based on CNN-LSTM using PPG to achieve continuous non-invasive arterial blood pressure monitoring. MethodsA CNN-LSTM hybrid neural network model was constructed, and the PPG and arterial blood pressure wave synchronized recorded signal data from the Medical Information Mart for Intensive Care (MIMIC) were used. The PPG signals were input to this model after noise reduction, normalization, and sliding window segmentation. The corresponding arterial blood pressure waves were reconstructed from PPG by using the CNN-LSTM hybrid model. ResultsWhen using the CNN-LSTM neural network with a window length of 312, the error between the reconstructed arterial blood pressure values and the actual arterial blood pressure values was minimal: the values of mean absolute error (MAE) and root mean square error (RMSE) were 2.79 mmHg and 4.24 mmHg, respectively, and the cosine similarity is the optimal. The reconstructed arterial blood pressure values were highly correlated with the actual arterial blood pressure values, which met the Association for the Advancement of Medical Instrumentation (AAMI) standards. ConclusionCNN-LSTM hybrid neural network can reconstruct arterial blood pressure wave signal using PPG to achieve continuous non-invasive arterial blood pressure monitoring.
4.Percutaneous pedicle screw anchored vertebral augmentation for the treatment of Kümmell disease without neuro-logical symptoms
Song-Hai CHEN ; Lin-Qiang YE ; Ze-Lin ZHOU ; Guo-Liang LU
China Journal of Orthopaedics and Traumatology 2024;37(5):470-476
Objective To explore the clinical effect of percutaneous pedicle screw anchored vertebral augmentation(PP-SAVA)in the treatment of asymptomatic Kümmell disease without neurological symptoms.Methods The clinical data of 20 patients with Kümmell disease without neurological symptoms treated with PPSAVA in our hospital from January 2019 to De-cember 2021 were analyzed retrospectively,including 5 males and 15 females,aged 56 to 88(74.95±9.93)years old.and the course of disease was 7 to 60 days with an average of(21.35±14.46)days.All patients were treated with PPSAVA.The time of operation,the amount of bone cement injected and the leakage of bone cement were recorded.The visual analogue scale(VAS),Oswestry disability index(ODI),vertebral body angle(VBA),anterior edge height and midline height of vertebral body were compared among the before operation,3 days after operation and during the final follow-up.The loosening and displace-ment of bone cement were observed during the final follow-up.Results All the 20 patients completed the operation successfully.The operation time was 30 to 56 min with an average of(41.15±7.65)min,and the amount of bone cement injection was 6.0 to 12.0 ml with an average of(9.30±1.49)ml.Bone cement leakage occurred in 6 cases and there were no obvious clinical symp-toms.The follow-up time was 6 to 12 months with an average of(8.43±2.82)months.The VBA,anterior edge height and mid-line height of of injured vertebral body were significantly improved 3 days after operation and the final follow-up(P<0.05),and the VBA,anterior edge height and midline height of of injured vertebral body were lost in different degrees at the final follow-up(P<0.05).The VAS and ODI at 3 days after operation and at the final follow-up were significantly lower than those at preopera-tively(P<0.05),but the VAS score and ODI at the final follow-up were not significantly different from those at 3 d after opera-tion(P>0.05).At the last follow-up,no patients showed loosening or displacement of bone cement.Conclusion PPSAVA is highly effective in treating Kümmell disease without neurological symptoms,improving patients'pain and functional impair-ment,and reducing the risk of cement loosening and displacement postoperatively.
5.Application progress of multi-omics technology in clinical nursing research
Jianmei YANG ; Guiru LIN ; Wanyi OU ; Dongliang CHEN ; Yuanfei WANG ; Aiping WU ; Zumin CHEN ; Ze ZENG ; Xiaomin LU ; Chenli LIN ; Yinji LIANG
Chinese Journal of Nursing 2024;59(16):2044-2048,后插1
The update of multi-omics technology is a key means to promote the rapid development of accurate health model in the whole life cycle.It can formulate dynamic and accurate nursing measures and provide massive data information from the perspective of nursing biology of health and disease.At present,clinical nursing research faces many challenges such as insufficient application and transformation ability of multi-omics technology.This paper introduces the multi-omics technology,reviews the application status of multi-omics technology in cancer nursing,maternal and child nursing,chronic metabolic disease nursing and symptom management,and puts forward the cross integration and prospect of multi-omics technology and nursing research,so as to strengthen the information mining ability of nurses at different levels of health and disease,and provide an important basis for accelerating the clinical transformation of precision nursing.
6.Single-Level Cervical Artificial Disc Replacement Compared with Cage Screw Implants: 2-Year Clinical and Radiological Outcomes Especially Adjacent Level Ossification
Teo Yu Ze EVAN ; Joshua Wong Rui YEN ; Dexter SEOW ; Corin Chen JIALI ; Laranya KUMAR ; Sangeetha BASKAR ; Shen LIANG ; Naresh KUMAR
Asian Spine Journal 2023;17(4):729-738
Methods:
Patients who received single-level ADR or CS between January 2008 and December 2018 were included. Data collected was preoperatively, intraoperatively, and postoperatively (6, 12, 24 months). Demographic information, surgical information, complications, follow-up surgery, and outcome ratings (Japanese Orthopaedic Association [JOA], Neck Disability Index [NDI], Visual Analog Scale [VAS] neck and arm, 36-item Short Form Health Survey [SF-36], EuroQoL-5 Dimension [EQ-5D]) were gathered. The radiological assessment included motion segment height, adjacent disc height, lordosis, cervical lordosis, T1 slope, the sagittal vertical axis C2–7, and adjacent level ossification development (ALOD).
Results:
Fifty-eight patients were included (ADR: 37 and CS: 21). At 6 months, both groups’ JOA, VAS, NDI, SF-36, and EQ-5D scores significantly improved, and the positive trends persisted at 2 years. Noted no significant difference in the enhancement of clinical scores except for the VAS arm (ADR: 5.95 vs. CS: 3.43, p =0.001). Radiological parameters were comparable except for the progression of ALOD of the subjacent disc (ADR: 29.7% vs. CS: 66.9%, p =0.02). No significant difference in adverse events or severe complications seen.
Conclusions
ADR and CS obtain good clinical results for symptomatic single-level cervical DDD. ADR demonstrated a significant advantage over CS in the improvement of VAS arm and reduced progression of ALOD of the adjacent lower disc. No statistically significant difference of dysphonia or dysphagia between the two groups were seen, attributed to their comparable zero profile.
7.Association between serum lysophosphatidylcholine level and elderly health index in older people from longevity areas of Guangxi Province.
Heng Shuo LIU ; Zhu WU ; Rui Yue YANG ; Guan Zhou CHEN ; Ying LI ; Qi ZHOU ; Hui Ping YUAN ; Ze YANG ; Liang SUN
Chinese Journal of Preventive Medicine 2023;57(5):649-653
Objective: To investigate the relationship between serum lysophosphatidylcholine (LPC) level and the health index of the elderly. Methods: A total of 251 subjects were selected from the 2016 baseline survey of the Yongfu Longevity Cohort in Guangxi Province among whom 66, 63 and 122 were in the young and middle-aged group (≤59 years old), the young group (60-89 years old) and the longevity group (≥90 years old), respectively. Demographic data were collected and related indicators of height, weight, blood pressure and lipid metabolism were measured. The cognitive and physical functions of the elderly were assessed by the results of the simple mental state scale and the daily living activity scale to construct the health index of the elderly. The serum levels of LPC16∶0, LPC18∶0, LPC18∶1 and LPC18∶2 were determined by liquid chromatography-tandem mass spectrometry, and the differences among different ages and health status groups were compared. The logistic regression model was used to analyze the relationship between the serum LPC level and the health index of the elderly. Results: With the increase in age, the proportion of female subjects increased, and the rate of smoking and drinking decreased. BMI, TC, TG, LDL-C, diastolic blood pressure, and the four LPCs levels decreased with the increase of age, and systolic blood pressure levels increased with the increase of age (all P values<0.05). There was no significant difference in HDL-C levels among age groups (P>0.05). With the decline of health status in the elderly, serum levels of LPC16∶0, LPC18∶0, LPC18∶1 and LPC18∶2 showed a downward trend (all P values<0.001). After adjusting for age and gender, only LPC18∶0 was associated with the health status in old age [OR (95%CI): 0.48 (0.25-0.92)]. For every 1 standard deviation (16.87 nmol/L) increase in serum LPC18∶0 concentration, the risk of poor health status in old age decreased by 52%. Conclusion: Serum LPC18∶0 was associated with the health status in old age independent of age and sex.
Aged
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Middle Aged
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Humans
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Female
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Aged, 80 and over
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Lysophosphatidylcholines
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Risk Factors
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China
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Longevity
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Surveys and Questionnaires
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Triglycerides
8.Research progress on main disease-related factors of healthy life expectancy.
Heng Shuo LIU ; Zhu WU ; Rui Yue YANG ; Guan Zhou CHEN ; Ying LI ; Si Cheng DU ; Qi ZHOU ; Hui Ping YUAN ; Ze YANG ; Liang SUN
Chinese Journal of Preventive Medicine 2023;57(5):654-658
International research on healthy life expectancy (HALE) focuses on inequality of socioeconomic status and individual natural attributes. With the acceleration of population ageing and the increase in average life expectancy, the extension of unhealthy life expectancy and the increase of social and economic burden caused by diseases have gradually attracted the attention of countries around the world. Therefore, the evaluation of disease factors affecting HALE is a meaningful direction in the future. This study introduces the development process and commonly used measurement methods of HALE. According to the definition of health from the Global Burden of Disease Study and World Health Organization, physical and mental diseases such as cardiovascular and cerebrovascular diseases, chronic respiratory diseases, diabetes, malignant tumors and depression were selected to summarize the impact of these diseases and pre-disease states on HALE. It is expected to provide a theoretical basis for the formulation of relevant public health policies and the improvement of quality of life in China.
Humans
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Healthy Life Expectancy
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Quality of Life
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Life Expectancy
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Causality
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Social Class
9.Genome-wide analysis of AP2/ERF superfamily in Isatis indigotica.
Liang XIAO ; Jun-Ze REN ; Qing LI ; Bin YANG ; Zhen-Jiang LIU ; Rui-Bing CHEN ; Lei ZHANG
Journal of Integrative Medicine 2023;21(1):77-88
OBJECTIVE:
AP2/ERF (APETALA2/ethylene-responsive factor) superfamily is one of the largest gene families in plants and has been reported to participate in various biological processes, such as the regulation of biosynthesis of active lignan. However, few studies have investigated the genome-wide role of the AP2/ERF superfamily in Isatis indigotica. This study establishes a complete picture of the AP2/ERF superfamily in I. indigotica and contributes valuable information for further functional characterization of IiAP2/ERF genes and supports further metabolic engineering.
METHODS:
To identify the IiAP2/ERF superfamily genes, the AP2/ERF sequences from Arabidopsis thaliana and Brassica rapa were used as query sequences in the basic local alignment search tool. Bioinformatic analyses were conducted to investigate the protein structure, motif composition, chromosome location, phylogenetic relationship, and interaction network of the IiAP2/ERF superfamily genes. The accuracy of omics data was verified by quantitative polymerase chain reaction and heatmap analyses.
RESULTS:
One hundred and twenty-six putative IiAP2/ERF genes in total were identified from the I. indigotica genome database in this study. By sequence alignment and phylogenetic analysis, the IiAP2/ERF genes were classified into 5 groups including AP2, ERF, DREB (dehydration-responsive element-binding factor), Soloist and RAV (related to abscisic acid insensitive 3/viviparous 1) subfamilies. Among which, 122 members were unevenly distributed across seven chromosomes. Sequence alignment showed that I. indigotica and A. thaliana had 30 pairs of orthologous genes, and we constructed their interaction network. The comprehensive analysis of gene expression pattern in different tissues suggested that these genes may play a significant role in organ growth and development of I. indigotica. Members that may regulate lignan biosynthesis in roots were also preliminarily identified. Ribonucleic acid sequencing analysis revealed that the expression of 76 IiAP2/ERF genes were up- or down-regulated under salt or drought treatment, among which, 33 IiAP2/ERF genes were regulated by both stresses.
CONCLUSION
This study undertook a genome-wide characterization of the AP2/ERF superfamily in I. indigotica, providing valuable information for further functional characterization of IiAP2/ERF genes and discovery of genetic targets for metabolic engineering.
Abscisic Acid
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Isatis/genetics*
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Multigene Family
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Phylogeny
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Homeodomain Proteins/genetics*
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Genome, Plant
10.Development of the Scientific, Transparent and Applicable Rankings (STAR) tool for clinical practice guidelines.
Nan YANG ; Hui LIU ; Wei ZHAO ; Yang PAN ; Xiangzheng LYU ; Xiuyuan HAO ; Xiaoqing LIU ; Wen'an QI ; Tong CHEN ; Xiaoqin WANG ; Boheng ZHANG ; Weishe ZHANG ; Qiu LI ; Dong XU ; Xinghua GAO ; Yinghui JIN ; Feng SUN ; Wenbo MENG ; Guobao LI ; Qijun WU ; Ze CHEN ; Xu WANG ; Janne ESTILL ; Susan L NORRIS ; Liang DU ; Yaolong CHEN ; Junmin WEI
Chinese Medical Journal 2023;136(12):1430-1438
BACKGROUND:
This study aimed to develop a comprehensive instrument for evaluating and ranking clinical practice guidelines, named Scientific, Transparent and Applicable Rankings tool (STAR), and test its reliability, validity, and usability.
METHODS:
This study set up a multidisciplinary working group including guideline methodologists, statisticians, journal editors, clinicians, and other experts. Scoping review, Delphi methods, and hierarchical analysis were used to develop the STAR tool. We evaluated the instrument's intrinsic and interrater reliability, content and criterion validity, and usability.
RESULTS:
STAR contained 39 items grouped into 11 domains. The mean intrinsic reliability of the domains, indicated by Cronbach's α coefficient, was 0.588 (95% confidence interval [CI]: 0.414, 0.762). Interrater reliability as assessed with Cohen's kappa coefficient was 0.774 (95% CI: 0.740, 0.807) for methodological evaluators and 0.618 (95% CI: 0.587, 0.648) for clinical evaluators. The overall content validity index was 0.905. Pearson's r correlation for criterion validity was 0.885 (95% CI: 0.804, 0.932). The mean usability score of the items was 4.6 and the median time spent to evaluate each guideline was 20 min.
CONCLUSION
The instrument performed well in terms of reliability, validity, and efficiency, and can be used for comprehensively evaluating and ranking guidelines.
Reproducibility of Results
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Surveys and Questionnaires
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Practice Guidelines as Topic
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Humans

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