Cancer is a common cause of death worldwide. Despite significant advances in cancer treatments, the morbidity and mortality are still enormous. Tumor heterogeneity, especially intratumoral heterogeneity, is a significant reason under-lying difculties in tumor treatment and failure of a number of current therapeutic modalities, even of molecularly targeted therapies. The development of a virtually noninvasive“liquid biopsy”from the blood has been attempted to characterize tumor heterogeneity. This review focuses on cell-free circulating tumor DNA (ctDNA) in the bloodstream as a versatile biomarker. ctDNA analysis is an evolving field with many new methods being developed and optimized to be able to successfully extract and analyze ctDNA, which has vast clinical applications. ctDNA has the potential to accurately genotype the tumor and identify personalized genetic and epigenetic alterations of the entire tumor. In addition, ctDNA has the potential to accurately monitor tumor burden and treatment response, while also being able to monitor minimal residual disease, reducing the need for harmful adjuvant chemotherapy and allowing more rapid detection of relapse. There are still many challenges that need to be overcome prior to this biomarker getting wide adoption in the clinical world, including optimization, standardization, and large multicenter trials.

Objective:To analyze the clinical characteristics and experiences in diagnosis and treatment of the patients with novel coronavirus pneumonia (NCP).Methods:Clinical data of 28 patients with NCP in the Fourth People′s Hospital of Nanning from January 22 to February 5 in 2020 were collected. The clinical manifestations, epidemiological history, laboratory tests, imaging examinations and treatments of patients were analyzed retrospectively.Results:The 28 patients with NCP included one mild case, 25 ordinary cases and two severe cases. They were all positive for 2019 novel coronavirus (2019-nCoV) nucleic acid in throat swabs. There were four groups of family clusters. The clinical symptoms were mainly fever and cough, which progressed rapidly in a short period of time. Since the onset of illness, the peak values of axillary temperature of the 28 patients were 36.6 ℃ to 39.5 ℃, while five patients had no fever throughout the course of the disease with the peak temperature ≤37.0 ℃. The illness onset ranged from 1 to 12 days after exposure, and the time from the symptom onset to the positive results of the nucleic acid tests was 0 to 13 days. There were two patients presented with decreased white blood cell counts, five patients with elevated C reactive protein, six patients with abnormal alanine aminotransferase, three patients with abnormal aspartate aminotransferase, 10 patients with elevated creatine kinase, three patients with elevated creatine kinase isoenzyme, four patients with elevated lactate dehydrogenase, and all with normal procalcitonin levels. The chest computed tomography examinations showed that the common features of patients with NCP were ground glass shadows (21 cases), blurred edges (18 cases), speckles and patchy shadows (17 cases), thickening and disorder of some lung textures (seven cases), and visible band shadows (seven cases). Pulmonary lesions often progressed rapidly. A included 11-year-old child was treated with alpha-interferon alone. A total of 27 patients were treated with alpha-interferon inhalation and lopinavir/ritonavir, while four occured withdrawal due to adverse reactions. Up to February 12, nine patients had been cured and discharged who were all ordinary cases, without death cases.Conclusions:The NCP patients mostly present with fever and cough. Pulmonary lesions often progress rapidly. Respiratory pathogen testing should be conducted as early as possible and repeatedly. Disisolation should be cautious for suspected people who are negative for 2019-nCoV nucleic acid in pharynx swabs.

Objective:To investigate the relationship between single nucleotide polymorphic (SNP) loci of PLCE1 gene and primary nephrotic syndrome (PNS) and its response to glucocorticoid therapy in Guangxi Zhuang children. Methods:It was a retrospective cohort study. One hundred and fifty-five Guangxi Zhuang children with PNS in the Affiliated Hospital of Youjiang Ethnic Medical College from October 2020 to May 2022, and 100 healthy Zhuang children during the same period as controls were included. Four SNP loci including rs17109674, rs10786156, rs3740360 and rs2274224 of PLCE1 gene were selected and high-throughput sequencing was used to analyze the genotypes. Logistic regression analysis model was used to analyze the correlation between each SNP locus and onset of PNS and steroid-resistant nephrotic syndrome. The SHEsis online software was used to analyze the link disequilibrium of each SNP locus, and construct the haploid type. Results:(1) Logistic regression analysis results showed that AC+CC genotype (AA as reference, OR=0.449, 95% CI 0.256-0.786, P=0.005), AC genotype (AA as reference, OR=0.354, 95% CI 0.188-0.667, P=0.001) and C allele gene (A as reference, OR=0.615, 95% CI 0.390-0.971, P=0.037) of rs3740360 were correlated with the risk of PNS in children. The genotypes and allele genes of rs17109674, rs10786156, rs3740360 and rs2274224 were not associated with the risk of steroid-resistant nephrotic syndrome in children (all P>0.05). (2) Strong linkage disequilibrium existed between rs10786156 and rs2274224 ( D'=0.702, r2=0.484). rs17109674 and rs10786156 ( D'=0.128, r2=0.007), rs17109674 and rs3740360 ( D'=0.142, r2=0.007), rs17109674 and rs2274224 ( D'=0.045, r2=0.001), rs10786156 and rs3740360 ( D'=0.255, r2=0.023), and rs3740360 and rs2274224 ( D'=0.281, r2=0.028) all had weak linkage disequilibrium. (3) The haploid AGCG ( OR=0.282, 95% CI 0.079-1.008, P=0.038), GGCC ( OR=0.327, 95% CI 0.111-0.967, P=0.034) and GGAG ( OR=4.616, 95% CI 1.179-18.069, P=0.016) were all correlated with the risk of PNS in children. Conclusions:AC genotype, AC+CC genotype, and C allele gene of rs3740360 SNP locus may reduce the risk of PNS in Guangxi Zhuang children. Haploid AGCG and GGCC may be associated with decreased incidence of PNS, while GGAG may be associated with increased incidence of PNS in Guangxi Zhuang children. The genotypes and alleles of 4 SNP loci are not associated with the risk of steroid-resistant nephrotic syndrome.

Objective:To analyze the mutation sites and characteristics of phospholipase CE1( PLCE1) gene in children with primary nephrotic syndrome(PNS) in Zhuang, Guangxi, China, so as to explore the expression status of PLCE1 protein in peripheral blood of PNS patients. Methods:(1)Blood samples of 154 Zhuang children with PNS and 98 healthy children of Zhuang nationality from July 2015 to September 2017 in Affiliated Hospital of Youjiang Medical College for Nationalities were collected to sequence PLCE1 gene with FastTarget target gene capture method in the combination with next generation sequencing.Based on the comparison between mutation results and information from the database, the pathogenicity, phenotype and distribution characteristics of these mutation sites were discovered and appraised.(2)The concentration of PLCE1 protein in serum samples were measured by enzyme-linked immuno sorbent assay, then the data of PNS group and healthy control group were compared and analyzed statistically with SPSS 25.0. Results:(1)A total of 18 low-frequency mutations of PLCE1 were observed, 5 of them(c.670C>T, c.578T>C, c.923G>T, c.4916C>T, and c. 5927_5929del) were found only in the PNS group, and 3 of them occurred in both PNS group and healthy control group: c.176C>T, c.389T>C, and c. 4304C>T.Five newly discovered mutations (c.923G>T, c.958T>A, c.1151C>T, c.2341A>G, and c. 3592G>C)were discovered and only c. 923 G>T is pathogenic mutation of PLCE1.(2)The concentration of PLCE1 protein in healthy control group was 414.65 (231.20, 729.81) ng/L and the level of PLCE1 in PNS group was 237.84 (116.14, 535.85) ng/L, ( Z=-3.212, P<0.001), and the value of PNS group was lower than that in the healthy control group. Conclusions:(1)As a new pathogenic mutation of PLCE1, c.923G>T was found.(2)The phenotype of PLCE1 gene mutation in Zhuang children with PNS was diverse, and they may differ by race and region.(3) PLCE1 protein of serum may act as a protective protein to guarantee various life activities of cells by participating in multiple signal transduction pathways.

Objective: To analysis the clinical characteristics and experiences in diagnosis and treatment of the patients with novel coronavirus pneumonia (NCP). Methods: Clinical data of 28 patients with NCP in Nanning Fourth People's Hospital from January 22 to February 5 in 2020 were collected. The clinical manifestations, epidemiological history, laboratory tests, imaging examinations and treatments of patients were analyzed retrospectively. Results: The 28 patients with confirmed viral pneumonia included 11 males and 17 females, ranging from 11 to 68 years. They all had history of epidemiological exposure and were all positive for 2019-nCoV nucleic acid in throat swabs. There were one mild case, 25 ordinary cases and two severe cases. There were four groups of family clusters. The illness onset ranged from 1 to 12 days after exposure, and the time from the symptom onset to the positive result of the nucleic acid test was 0 to 13 days. The clinical symptoms were mainly fever and cough, which progressed rapidly in a short period of time. Since the onset of illness, the peak values of axillary temperature of the 28 patients were 36.6~39.5 ℃, while five patients had no fever throughout the course of the disease with the peak temperature of ≤37 ℃. There were two patients presented with decreased white blood cell counts, five patients with elevated C reactive protein, six patients with abnormal alanine aminotransferase, three patients with abnormal aspartate aminotransferase,10 patients with elevated creatine kinase, three patients with elevated creatine kinase isoenzyme, four patients with elevated lactate dehydrogenase, and all with normal procalcitonin levels. The chest computed tomography examinations showed that the common features were ground glass shadows (21 cases), blurred edges (18 cases), speckles and patchy shadows (17 cases), thickening and disorder of some lung textures (7 cases), and visible band shadows (7 cases). Pulmonary lesions often progressed rapidly. One 11-year-old child was treated with alpha-interferon alone, and 27 patients were treated with alpha-interferon inhalation plus lopinavir/ritonavir with 4 withdrawal due to adverse reactions. Up to February 12, nine patients had been discharged from the hospital, who were ordinary cases, without death cases. Conclusions The NCP patients mostly present with fever and cough. Pulmonary lesions often progress rapidly. Respiratory pathogen testing should be conducted as early as possible and repeatedly. Disisolation should be cautious for suspected people who are negative for 2019-nCoV nucleic acid in pharynx swabs.