1.Next generation sequencing-based precision STR genotyping of mixed samples
Min RAO ; Peng ZHAO ; Chi ZHANG ; Bo WU ; Qifan SUN ; Jingbo PANG ; Anquan JI ; Le WANG ; Shengjie NIE
Chinese Journal of Forensic Medicine 2018;33(1):22-25,30
Objective To genotype mixed samples with next generation sequencing and evaluate its prospects in forensic DNA application. Methods Three mixed biological samples from rapes cases and their reference samples were collected. DNA was extracted using the MagAttract M48 DNA Manual Kit(200). The ForenSeqTMDNA Signature Prep Kit was used for library preparation, and next generation sequencing was performed on the MiSeq FGx system. The ForenSeqTMUniversal Analysis v1.2.1 software was used for data analysis. NGS-based STR results were compared with CE-based genotypes. Results A single length polymorphic STR allele in the mixed profile could be recognized as two sequence polymorphic STR alleles from different donors, which would assist mixed profile analysis. Such phenomenon was observed in D3S1358, D9S1122 and D13S317 in this work. Conclusion Our results suggested that precision STR genotyping of mixed samples based on NGS can provide more information and hints for mixed STR profile separation.
2.Preparation and characterization of nintedanib nano-liposomes
Le RAO ; Mengyu GUO ; Guogang XU
Journal of Army Medical University 2024;46(14):1695-1700,封3
Objective To investigate the key physical and chemical properties of nintedanib liposomes prepared by 4 different methods in order to screen out the best preparation method of nintedanib liposomes.Methods Firstly,nintedanib liposomes were prepared by thin film dispersion,reverse evaporation,ethanol injection and modified ethanol injection,respectively.The entrapment efficiency of nintedanib liposomes was then determined by dialysis and characterized for particle size,dispersibility,surface potential,and morphology.Their stability was evaluated after being placed at room temperature for 7 d.Results Circular nintedanib liposomes were respectively prepared by thin film dispersion,reverse evaporation,ethanol injection and modified ethanol injection,with a particle size of(285.1±12.3),(271.4±5.9),(226.3±14.8)and(197.2±11.2)nm,an encapsulation rate of(15.82±1.26)%,(16.71±1.35)%,(25.12±3.21)%and(32.5±3.61)%,respectively.The nintedanib liposomes prepared by modified ethanol injection had significantly smallest particle size and highest encapsulation efficiency than the liposomes by the other 3 methods(P<0.05).In 7 d after being placed at room temperature,the particle sizes of the liposomes prepared by film dispersion and reverse evaporation were increased notably(P<0.01),but no such change was observed in the liposomes prepared by ethanol injection and modified ethanol injection(P>0.05).Conclusion Nintedanib liposomes prepared by modified ethanol injection have excellent key physical and chemical properties,and this method is an optical one for preparing nintedanib liposomes.
3.Preliminary clinical application of magnetic resonance-guided fractionated stereotactic radiation in the treatment of brain tumors
Le RAO ; Boning CAI ; Chuanbin XIE ; Yanli LIU ; Haiyang WANG ; Wei YU ; Baolin QU
Chinese Journal of Radiation Oncology 2024;33(12):1091-1097
Objective:To evaluate the dosimetric characteristics, safety and effectiveness of magnetic resonance-guided fractionated stereotactic radiotherapy (FSRT) for brain tumors.Methods:Clinical data of 8 brain tumor patients treated with magnetic resonance-guided FSRT in the Radiotherapy Department of the First Medical Center of the PLA General Hospital from July 2023 to February 2024 were retrospectively analyzed. Online adaptive radiotherapy was adopted for all patients. Adapt-to-position (ATP) or adapt-to-shape (ATS) radiotherapy was chosen by radiologists. Each adaptation was initiated after the radiotherapy plan was re-examined. The radiotherapy fractionation plan was 21-30 Gy/3-5 F. Clinical characteristics, radiotherapy plans and plan parameters were analyzed by statistical description. Median ( Q1, Q3) was used to describe continuous data and percentage was used to describe categorical data. Results:In this study, 9 lesions were treated a total of 41 times, including 20 times (49%) of ATP plan and 21 times (51%) of ATS plan. The median target area coverage rate was 95.1% (95%, 99.8%), the median target area maximum dose rate was 1.15 (1.07, 1.31), the median conformity index (CI) was 0.75 (0.69, 0.86), the median homogeneity index (HI) was 1.09 (1.06, 1.21), and the median gradient index (GI) was 4.73 (3.36, 8.45), respectively. After ATS plan, the median reduction in gross target volume (GTV) was 8.22 cm3 (1.2, 10.1 cm3), and the median reduction in brain tissue V12 Gy was 30.46 cm3 (8.34, 31.13 cm3).The median follow-up was 3.2 months (1.4, 6.1 months). No radiation necrosis was found in any patient. There were 2 cases of acute brain edema during radiotherapy (both were mild). Except for 1 case who died due to systemic disease progression, the remaining patients had no local recurrence, and achieved good quality of life. Conclusions:The parameters of the treatment plan of magnetic resonance-guided FSRT are generally acceptable. The adaptive plan can effectively reduce the dose of normal brain tissues. It is safe and feasible to use the magnetic resonance-guided FSRT for brain tumors.
4.Individualized comprehensive treatment for lung adenocarcinoma with multiple skin and bilateral breast metastasis: A case report.
Biyuan LUO ; Le RAO ; Fang MA ; Xianling LIU
Journal of Central South University(Medical Sciences) 2020;45(1):102-108
Lung adenocarcinoma is a malignant tumor that is prone to distant metastasis. Common metastatic sites are brain, adrenal gland, liver, bone, and so on. Skin soft tissue metastasis is unusual, and breast metastasis is even rarer. This case is a middle-aged female patient who had experienced multi-line treatments for upper limbs, abdominal skin, and bilateral breast tissue metastases.The patient's multiple metastases were susceptible to radiation therapy.Reviewing the entire treatment process of this patient can find that the rational use of individualized comprehensive treatment methods and appropriate timing of genetic testing are very important for patients with lung adenocarcinoma to prolong their survival time and improve their quality of life.
Adenocarcinoma of Lung
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Breast Neoplasms
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Female
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Humans
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Lung Neoplasms
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Middle Aged
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Quality of Life
5.Mapping of QTL associated with rice cooking quality and candidate gene analysis.
Qiaona LE ; Ziwen HUANG ; Ruohui DAI ; Sanfeng LI ; Mengjia LI ; Yuan FANG ; Yuexing WANG ; Yuchun RAO
Chinese Journal of Biotechnology 2024;40(1):122-136
Excavating the quantitative trait locus (QTL) associated with rice cooking quality, analyzing candidate genes, and improving cooking quality-associated traits of rice varieties by genetic breeding can effectively improve the taste of rice. In this study, we used the indica rice HZ, the japonica rice Nekken2 and 120 recombinant inbred lines (RILs) populations constructed from them as experimental materials to measure the gelatinization temperature (GT), gel consistency (GC) and amylose content (AC) of rice at the maturity stage. We combined the high-density genetic map for QTL mapping. A total of 26 QTLs associated with rice cooking quality (1 QTL associated with GT, 13 QTLs associated with GC, and 12 QTLs associated with AC) were detected, among which the highest likelihood of odd (LOD) value reached 30.24. The expression levels of candidate genes in the localization interval were analyzed by quantitative real-time polymerase chain reaction (qRT-PCR), and it was found that the expression levels of six genes were significantly different from that in parents. It was speculated that the high expression of LOC_Os04g20270 and LOC_Os11g40100 may greatly increase the GC of rice, while the high expression of LOC_Os01g04920 and LOC_Os02g17500 and the low expression of LOC_Os03g02650 and LOC_Os05g25840 may reduce the AC. The results lay a molecular foundation for the cultivation of new high-quality rice varieties, and provide important genetic resources for revealing the molecular regulation mechanism of rice cooking quality.
Quantitative Trait Loci
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Oryza/genetics*
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Plant Breeding
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Cooking
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Genetic Association Studies
6.Discovery of novel phosphodiesterase-1 inhibitors for curing vascular dementia: Suppression of neuroinflammation by blocking NF-κB transcription regulation and activating cAMP/CREB axis.
Qian ZHOU ; Meiling LE ; Yiyi YANG ; Wenjuan WANG ; Yuqi HUANG ; Quan WANG ; Yijing TIAN ; Meiyan JIANG ; Yong RAO ; Hai-Bin LUO ; Yinuo WU
Acta Pharmaceutica Sinica B 2023;13(3):1180-1191
Vascular dementia (VaD) is the second commonest type of dementia which lacks of efficient treatments currently. Neuroinflammation as a prominent pathological feature of VaD, is highly involved in the development of VaD. In order to verify the therapeutic potential of PDE1 inhibitors against VaD, the anti-neuroinflammation, memory and cognitive improvement were evaluated in vitro and in vivo by a potent and selective PDE1 inhibitor 4a. Also, the mechanism of 4a in ameliorating neuroinflammation and VaD was systematically explored. Furthermore, to optimize the drug-like properties of 4a, especially for metabolic stability, 15 derivatives were designed and synthesized. As a result, candidate 5f, with a potent IC50 value of 4.5 nmol/L against PDE1C, high selectivity over PDEs, and remarkable metabolic stability, efficiently ameliorated neuron degeneration, cognition and memory impairment in VaD mice model by suppressing NF-κB transcription regulation and activating cAMP/CREB axis. These results further identified PDE1 inhibition could serve as a new therapeutic strategy for treatment of VaD.
7.Clinical treatment outcomes and their changes in extremely preterm twins: a multicenter retrospective study in Guangdong Province, China.
Bi-Jun SHI ; Ying LI ; Fan WU ; Zhou-Shan FENG ; Qi-Liang CUI ; Chuan-Zhong YANG ; Xiao-Tong YE ; Yi-Heng DAI ; Wei-Yi LIANG ; Xiu-Zhen YE ; Jing MO ; Lu DING ; Ben-Qing WU ; Hong-Xiang CHEN ; Chi-Wang LI ; Zhe ZHANG ; Xiao RONG ; Wei SHEN ; Wei-Min HUANG ; Bing-Yan YANG ; Jun-Feng LYU ; Hui-Wen HUANG ; Le-Ying HUO ; Hong-Ping RAO ; Wen-Kang YAN ; Xue-Jun REN ; Yong YANG ; Fang-Fang WANG ; Dong LIU ; Shi-Guang DIAO ; Xiao-Yan LIU ; Qiong MENG ; Yu WANG ; Bin WANG ; Li-Juan ZHANG ; Yu-Ge HUANG ; Dang AO ; Wei-Zhong LI ; Jie-Ling CHEN ; Yan-Ling CHEN ; Wei LI ; Zhi-Feng CHEN ; Yue-Qin DING ; Xiao-Yu LI ; Yue-Fang HUANG ; Ni-Yang LIN ; Yang-Fan CAI ; Sha-Sha HAN ; Ya JIN ; Guo-Sheng LIU ; Zhong-He WAN ; Yi BAN ; Bo BAI ; Guang-Hong LI ; Yue-Xiu YAN
Chinese Journal of Contemporary Pediatrics 2022;24(1):33-40
OBJECTIVES:
To investigate the clinical treatment outcomes and the changes of the outcomes over time in extremely preterm twins in Guangdong Province, China.
METHODS:
A retrospective analysis was performed for 269 pairs of extremely preterm twins with a gestational age of <28 weeks who were admitted to the department of neonatology in 26 grade A tertiary hospitals in Guangdong Province from January 2008 to December 2017. According to the admission time, they were divided into two groups: 2008-2012 and 2013-2017. Besides, each pair of twins was divided into the heavier infant and the lighter infant subgroups according to birth weight. The perinatal data of mothers and hospitalization data of neonates were collected. The survival rate of twins and the incidence rate of complications were compared between the 2008-2012 and 2013-2017 groups.
RESULTS:
Compared with the 2008-2012 group, the 2013-2017 group (both the heavier infant and lighter infant subgroups) had lower incidence rates of severe asphyxia and smaller head circumference at birth (P<0.05). The mortality rates of both of the twins, the heavier infant of the twins, and the lighter infant of the twins were lower in the 2013-2017 group compared with the 2008-2012 group (P<0.05). Compared with the 2008-2012 group, the 2013-2017 group (both the heavier infant and lighter infant subgroups) had lower incidence rates of pulmonary hemorrhage, patent ductus arteriosus (PDA), periventricular-intraventricular hemorrhage (P-IVH), and neonatal respiratory distress syndrome (NRDS) and a higher incidence rate of bronchopulmonary dysplasia (P<0.05).
CONCLUSIONS
There is a significant increase in the survival rate over time in extremely preterm twins with a gestational age of <28 weeks in the 26 grade A tertiary hospitals in Guangdong Province. The incidences of severe asphyxia, pulmonary hemorrhage, PDA, P-IVH, and NRDS decrease in both the heavier and lighter infants of the twins, but the incidence of bronchopulmonary dysplasia increases. With the improvement of diagnosis and treatment, the multidisciplinary collaboration between different fields of fetal medicine including prenatal diagnosis, obstetrics, and neonatology is needed in the future to jointly develop management strategies for twin pregnancy.
Bronchopulmonary Dysplasia/epidemiology*
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Female
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Gestational Age
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Humans
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Infant
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Infant, Extremely Premature
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Infant, Newborn
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Pregnancy
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Respiratory Distress Syndrome, Newborn/epidemiology*
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Retrospective Studies
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Treatment Outcome