Table of Content

28 February 2023, Volume 38 Issue 2

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Progress and challenges in diagnosis and treatment of rare diseases

YU Tingting, WANG Jian

2023, 38(2):  103-105.  DOI: 10.3969/j.issn.1673-8640.2023.02.001

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The diagnosis and treatment of rare diseases is one of the important challenges in the global medical field. In the recent years，with the rapid development of science and technology and the promulgation of relevant policies，great progress has been made in the field of diagnosis and treatment of rare diseases. This review focuses on the application of molecular diagnostic technology and the interpretation of genetic variation in the process of accurate diagnosis of rare diseases. It is carried out in combination with several reports in this special issue. It is hoped that this issue can provide a reference for the diagnosis and treatment of rare diseases.

Genetic analysis on 15 cases of suspected Duchenne muscular dystrophy/Becker muscular dystrophy

CAI Xiaoyi, LOU Dan, YANG Xingge, WANG Jian

2023, 38(2):  106-111.  DOI: 10.3969/j.issn.1673-8640.2023.02.002

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Objective To analyze the clinical characteristics and gene variation of Duchenne muscular dystrophy （DMD），and to provide a reference for clinical diagnosis，treatment and genetic counseling. Methods The clinical characteristics of 15 children with suspected pseudohypertrophic muscular dystrophy in the First Affiliated Hospital of Henan University of Science and Technology from July 2019 to July 2021 were analyzed retrospectively，and the gene variation characteristics were analyzed by multiplex ligation-dependent probe amplification（MLPA） and whole-exome sequencing （WES）. The variation sites were analyzed by bioinformatics. Results Among the 15 patients，14 patients had variations in DMD gene，including 12 large exon deletions and 2 point mutations [c.2168+1G>T and c.9917_9923del（p.Thr3306Serfs*22）]. The identified large deletions were involved in 11 different regions of DMD gene，of which 8 caused frameshifts，2 caused in-frame deletions and 1 caused loss of whole protein expression. The 14 patients with DMD gene variations had the characteristics of abnormally increased enzymes and myogenic damage，and they were diagnosed as DMD. In addition，1 patient with negative result from DMD gene detection had compound heterozygous variation of LAMA2 gene [c.819+1G>A and c.1884G>A（p.Glu628Glu）]，and the subject was diagnosed with limb-girdle muscular dystrophy （LGMD）. Conclusions Clinical attention should be paid to the differential diagnosis of DMD，Becker muscular dystrophy and LGMD. For children with progressive muscular dystrophy combined with creatine kinase and other enzymatic change and myogenic damage，MLPA is recommended to detect the copy number of DMD gene. Next-generation sequencing should be used to further analyze the genetic etiology.

Genetic analysis of Poirier-Bienvenu neurodevelopmental syndrome

TONG Wenjia, SONG Conglei, XU Yuanyuan, LI Min, JIN Danqun

2023, 38(2):  112-116.  DOI: 10.3969/j.issn.1673-8640.2023.02.003

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Objective To analyze the gene mutation of a child with early-onset seizures by trio-whole-exome sequencing（Trio-WES），and to investigate the pathogenic factors of Poirier-Bienvenu neurodevelopmental syndrome（POBINDS）. Methods The clinical data of a child with early-onset seizures were collected，Trio-WES was performed on the child and his parents，and the mutation sites were verified by Sanger sequencing. The hazards of mutation sites were assessed by bioinformatics analysis. Results The child exhibited recurrent myoclonic seizures at the age of 3 months. Although the frequency of seizures was decreased after treatment with sodium valproate，it was still uncontrollable. Trio-WES results indicated that the child had a missense mutation [c.560T>G（p.Leu187Arg）] in CSNK2B gene. The mutation sites of his parents were wild-type，which was a de novo mutation site. According to the results of genetic analysis and clinical symptoms，the child was definitely diagnosed as POBINDS. A search of public SNP databases（ESP database，1000 Genomes database and ExAC database） did not find that the mutation site was included. Sanger sequencing confirmed the existence of mutation site. The results of protein structure simulation analysis showed that the c.560T>G（p.Leu187Arg） may lead to a decreasing in the stability of casein kinase 2（CK2） tetramer structure，thereby affecting its biological function. Conclusions POBINDS caused by CSNK2B gene mutation may be the pathogenic factor of recurrent myoclonic seizures in children，suggesting that the possibility of POBINDS should be considered in the clinical treatment of early-onset seizures.

Clinical phenotypes and genetics analysis of X-linked intellectual disability caused by HUWE1 gene variation

CAI Chunyan, SHANGGUAN Huakun, WU Wenyong, ZHANG Ying, YUAN Xin, CHEN Ruimin

2023, 38(2):  117-123.  DOI: 10.3969/j.issn.1673-8640.2023.02.004

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Objective To analyze the clinical manifestations and genetic characteristics of X-linked intellectual disability（XLID） with HUWE1 mutation. Methods The clinical data and laboratory determination results of a boy with XLID were collected. The gene mutation of the patient with XLID and his parents was detected by whole-exome sequencing and verified by Sanger sequencing. Bioinformatic analysis of the mutation was performed to determine the pathogenicity. The clinical and gene mutation characteristics of XLID were summarized by a literature review. Results The patient with XLID showed intellectual disability，motor developmental delay，speech delay，short stature and facial dysmorphism. The whole-exome sequencing identified a de novo hemizygous mutation c.12227C>G（p.Pro4076Arg） in HUWE1 gene of the patient. Sanger sequencing showed that the mutation existed and his parents did not have the mutation. This mutation was not included by searching ESP database，1000 Genomes database，ExAC database and gnomAD database. The mutation c.12227C>G（p.Pro4076Arg）in HUWE1 gene reduced the flexibility of HECT domain. The results of literature review showed that 51 patients with XLID caused by HUWE1 mutation were mainly characterized by moderate to severe intellectual disability（92%），motor developmental delay（92%），speech delay（83%）and short stature（78%）. There were 27 mutations consisting of 25 missense mutations and 2 frame shift mutations. The 11 mutations （involved in 21 patients）located in HECT domain were characterized by moderate to severe intellectual disability（100%）and typical facial dysmorphism consisting of deep set eyes（93%），blepharophimosis（93%） and epicanthus（85%）. Conclusions Patients with HUWE1 mutation located in HECT domain have a severe phenotype and recognizable facial features. XLID should be considered in patients with clinical manifestations of intellectual disability，short stature and facial dysmorphism. A genetic analysis is helpful in arriving at a definite diagnosis.

Clinical characteristic and genetic test analysis of 2 neonates with congenital distal arthrogryposis caused by MYH3 mutation

CHENG Huanhuan, ZHAO Yuwei

2023, 38(2):  124-129.  DOI: 10.3969/j.issn.1673-8640.2023.02.005

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Objective To analyze the clinical characteristics and genetic test analysis results of 2 neonates with distal arthrogryposis （DA），and to improve the understanding of DA. Methods The clinical data of 2 neonates with DA were analyzed retrospectively，and the trio-whole-exome sequencing （Trio-WES） of the 2 neonates and their parents were sequenced. Bioinformatics prediction analysis and Sanger sequencing verification were carried out for the suspicious mutations found，and the spatial structure of mutation protein was constructed to analyze its biological hazard. Results The 2 neonates with DA showed severe hand foot joint contracture. The results of Trio-WES indicated that MYH3 mutation occurred in the 2 neonates. Case 1 was c.1106A>G（ p. Gln369Arg），and Case 2 was c.3059C>A（p. Ser1020Tyr），and the parents of 2 neonates were wild-type. The c.1106A>G（ p.Gln369Arg），which was not included in dbSNP，ExAC，1000 Genomes and gnomeAD databases. The c.3059C>A（ p.Ser1020Tyr） was only distributed in the gnomeAD database with a frequency of 0.0001. It had not been reported in HGMD database and Pubmed database. Both c.1106A>G（ p.Gln369Arg） and c.3059C>A（p.Ser1020Tyr） were rated as possibly pathogenic according to the guidelines of American College of Medical Genetics and Genomics （ACMG）. Both of the 2 mutations may lead to a decrease in the stability of protein local structure and affect the function of protein. Conclusions The 2 neonates with DA caused by MYH3 mutation show the characteristics of joint contracture. Two mutations of MYH3 have been found，which expand the variation spectrum of MYH3 and DA phenotype spectrum of Chinese population.

Clinical characteristics and genetic analysis of Desbuquois dysplasia Kim type caused by CANT1 mutation

WANG Xin, DENG Qian, WANG Juanjuan, CAI Wenjuan, GAO Jian, HAN Yanping, HU Kefei, CHEN Yuqing

2023, 38(2):  130-136.  DOI: 10.3969/j.issn.1673-8640.2023.02.006

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Objective By analyzing the clinical and genetic characteristics of a Han patient with Desbuquois dysplasia（DBQD） without abnormal hand appearance，the phenotypic and genetic variation spectrum of DBQD in Chinese population has been further expanded. Methods The clinical data of the patient with DBQD were collected，and the genetic mutations of the patient and his parents were determined by trio-whole exome sequencing（Trio-WES）. Bioinformatics analysis and crystal structure analysis were used to analyze the biohazard of mutation，and Sanger sequencing was used to verify. The clinical characteristics and genetic variation spectrum of DBQD were summarized through literature review. Results The patient had special features（flat round face，exophthalmos and low bridge of nose），growth retardation，scoliosis and foot pain，but the appearance of hands was normal. The results of Trio-WES showed that the homozygous mutation of the CANT1 gene was c.494T>C（ p.Met165Thr），and the parents were heterozygous carriers of the mutation. SIFT，Polyphen-2 and Mutation Taste online softwares predicted that c.494T>C can cause harmful effects on protein or protein products. Sanger sequencing confirmed the existence of mutation. The prediction of crystal structure suggested that c.494T>C（ p.Met165Thr） may lead to the decrease of local structural stability of protein and affect the function of protein. The patient was diagnosed as DBQD-Kim type according to the hand characteristics，clinical phenotypic characteristics and gene determination results. Through literature review and the analysis of 41 patients with DBQD caused by CANT1 gene mutation，32 CANT1 gene mutations were found，including 15 missense mutations，11 frameshift mutations，3 nonsense mutations，3 non-coding mutations and 1 copy number deletion mutation. Among patients with DBQD 1 type，the frequency of arginine mutation（p.Arg300His or p.Arg300Cys） of CANT1 protein 300 was the highest. The Kim type patients were mainly serine 156（p.Ser156Phe） and valine 226（p.Val226Met）. Conclusions The extensive skeletal abnormalities in children with DBQD-Kim type may be caused by homozygous mutation of CANT1 gene. Combined with clinical phenotype and gene determination results，DBQD can be clearly diagnosed and classified.

Genetic test and literature review in a child with congenital glycosylation disorder type Ⅰq

ZHANG Zhixiang, TIAN Hengfeng, HENG Erhu

2023, 38(2):  137-142.  DOI: 10.3969/j.issn.1673-8640.2023.02.007

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Objective The clinical and genetic characteristics of a child with congenital glycosylation disorder（CDG） -Ⅰq have been analyzed，and the literature has been reviewed. Methods The clinical data of a child with CDG-Ⅰq were collected and analyzed，and the trio-whole-exome sequencing（Trio-WES） was performed on the child and her parents. Bioinformatics analysis was carried out on the screened mutations，and Sanger sequencing was used to verify. The reports of similar cases were searched，and the clinical and genetic characteristics of the children with CDG-Ⅰq were reviewed. Results The main manifestation of the child was developmental retardation with special facial features，and brain magnetic resonance imaging showed that the extracerebral space was widened. The results of trio-WES showed that the SRD5A3 of the child had a compound heterozygous mutation [NM_024592.5：c.411G>A（ p.Trp137Ter） and c.208_c.209insA（ p.Asp70Glufs*150）]，and the mutation was not included in the dbSNP database，1000 Genomes database and ExAC database. The ClinVar and HGMD databases also did not see the report of the mutation. Literature review collected detailed clinical information of 34 children with CDG-Ⅰq reported. The main clinical features were developmental retardation，eye disease，dermatosis and other phenotypes. The main types of SRD5A3 mutations were nonsense mutations and frameshift mutations. Conclusions A case of CDG-Ⅰq caused by novel mutation of SRD5A3 has been reported，which enriches the variation spectrum of SRD5A3. Trio-WES is helpful for the accurate diagnosis of CDG-Ⅰq.

Expressions and correlation of miR-335 and Fra-1 in breast cancer

LIU Chong, ZHANG Jing, LI Sheng, ZHAO Qi

2023, 38(2):  143-147.  DOI: 10.3969/j.issn.1673-8640.2023.02.008

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Objective To determine the expressions of microRNA-335（miR-335）and Fos related antigen-1（Fra-1）in breast cancer tissues and cells，and to investigate the relationship between them. Methods The breast cancer tissues and corresponding paracancerous tissues from 41 patients were collected（>2 cm and <3 cm away from the lesions）. The expressions of miR-335，Fra-1 mRNA and Fra-1 protein were determined in different tissues，breast cancer cell lines（MDA-231 and MCF-7） and normal breast cell line（MCF-10A）. Breast cancer cell lines（MDA-231 and MCF-7） were transfected with miR-335 containing plasmid（miR-335 mimic） and control plasmid（mimic control），and the effect of miR-335 overexpression on Fra-1 mRNA and Fra-1 protein expressions was analyzed. Pearson correlation analysis was used to evaluate the correlation between miR-335 and Fra-1. Results Compared with the normal breast cell line（MCF-10A），the expression of miR-335 in breast cancer cell lines（MCF-7 and MDA-231） was decreased（P<0.05），and the expressions of Fra-1 mRNA and Fra-1 protein were increased（P<0.05）. Compared with tumor-adjacent tissues，the expression of miR-335 in breast cancer tissues was decreased（P<0.05），and the expressions of Fra-1 mRNA and Fra-1 protein were increased（P<0.05）. The positive expression of Fra-1 in breast cancer tissues was higher than that in adjacent tissues（P<0.05）. Compared with their respective control groups，the expressions of miR-335 in MCF-7 cells and MDA-231 cells transfected with miR-335 mimic were up-regulated（P<0.05），and the expressions of Fra-1 mRNA and Fra-1 protein were down-regulated（P<0.05）. Pearson correlation analysis showed that miR-335 was negatively correlated with Fra-1 mRNA（r=-0.830 4，P<0.05）. Conclusions The expression of miR-335 decreases，and Fra-1 increases in breast cancer tissues and cell lines. Overexpression of miR-335 reduces the expression of Fra-1 in breast cancer cells.

Consistency of serum LDL-P and LDL-C determination results

SU Zhenzhen, ZOU Jihua, WANG Huimin, XU Weifeng, DING Fang, ZHANG Jingmei, WANG Zhanke

2023, 38(2):  148-152.  DOI: 10.3969/j.issn.1673-8640.2023.02.009

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Objective To investigate the consistency between the determination of low-density lipoprotein particles（LDL-P） by vertical auto profile（VAP） and the determination of low-density lipoprotein cholesterol（LDL-C） by biochemical homogeneity. Methods A total of 417 patients with coronary atherosclerotic heart disease and 154 healthy subjects were enrolled to determine LDL-P by VAP and LDL-C level by biochemical homogeneity. The 3.37 mmol/L and 1 000 nmol/L were used as the upper limits of the reference intervals for LDL-C and LDL-P，respectively. The samples with consistent LDL-C and LDL-P results were included in group A and classified into group A1（both LDL-C and LDL-P results were normal） and group A2（both LDL-C and LDL-P results were elevated） according to the determination results. The samples with inconsistent LDL-C and LDL-P results were classified into group B，and they were classified into B1（LDL-C normal，LDL-P elevated） and B2（LDL-C elevated，LDL-P normal）. Pearson correlation analysis was used to assess the correlation between the indicators. Results The results of Pearson correlation analysis showed that LDL-C and LDL-P were positively correlated（r=0.666，P=0.000）. There were 181 cases（31.70%） in group A，including 95 cases（16.64%） in group A1 and 86 cases（15.06%） in group A2. There were 390 cases（68.30%） in group B，including 373 cases（65.32%） in group B1 and 17 cases（2.98%） in group B2. Conclusions The inconsistency between LDL-C and LDL-P is mainly present in patients with high LDL-P，suggesting that LDL-P should be clinically concerned to prevent missed determination in subjects with normal LDL-C levels.

Characteristic analysis of Clostridium difficile colonization and infection in inpatients

MA Kaihui, LÜ Zhi, ZHOU Yanyan, SU Jianrong

2023, 38(2):  153-156.  DOI: 10.3969/j.issn.1673-8640.2023.02.010

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Objective To analyze the toxicity characteristics of Clostridium difficile in different intestine states of inpatients，and to provide a reference for the prevention and treatment of Clostridium difficile infection （CDI）. Methods The 432 fecal samples of inpatients were collected from Beijing Friend Hospital of Capital Medical University from February to June 2019. All the patients were classified into diarrhea group （198 cases） and diarrhea-free group （234 cases） based on whether they had diarrhea symptoms. The isolates of Clostridium difficile were isolated from the fecal samples. The isolates were determined for toxin gene，toxin protein expression and cytotoxicity test. The results of 2 groups were analyzed statistically. Results There was no statistical significance in the positive rate of toxin gene between the 2 groups（P>0.05）. The toxin protein expression of diarrhea group was higher than that of diarrhea-free group（P<0.05）. The results of cytotoxicity test showed that the 2 groups had lesions，but the number of cell death in diarrhea group was higher than that in diarrhea-free group （P<0.05）. Conclusions Both toxic and non-toxic Clostridium difficile can colonize without diarrhea in inpatients. The increase in toxin production and toxicity of Clostridium difficile are factors in the clinical presence of diarrhea symptoms.

Analysis of pathogenic epidemiology of patients with lower respiratory tract infection in respiratory intensive care unit

REN Yanfei, ZHANG Min, YANG Tao, LI Rongkai, LIANG Xin

2023, 38(2):  157-162.  DOI: 10.3969/j.issn.1673-8640.2023.02.011

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Objective To investigate the pathogenic and epidemiological characteristics of patients with lower respiratory tract infection in respiratory intensive care unit，and to provide a reference for clinical diagnosis and epidemiological investigation. Methods A total of 2 382 sputum and alveolar lavage fluid specimens were collected from the patients with lower respiratory tract infection in respiratory intensive care units of 3 Grade A Class 3 hospitals in Xinxiang from 2019 to 2020. The pathogens were determined by loop-mediated isothermal amplification（LAMP） and bacterial culture methods. The consistency of 2 methods was evaluated. The pathogen distribution with different ages and between females and males was evaluated. The positive rate with different seasons was evaluated. The drug susceptibility was analyzed by disk diffusion method. Results Among the 2 382 specimens，the main pathogens were Acinetobacter baumannii（19.40%），methicillin-resistant Staphylococcus aureus（17.25%） and Klebsiella pneumoniae（13.98%）. Methicillin-resistant Staphylococcus aureus and Haemophilus influenza were prevalent in the population <20 years old. Acinetobacter baumannii was mainly infected the population ≥60 years old. The total positive rates of pathogens in patients with lower respiratory tract infection with different ages and sex had statistical significance（P<0.001）. Except for Klebsiella pneumoniae，Acinetobacter baumannii and Haemophilus influenza，the difference of the other pathogens in each season was statistically significant（P<0.05）. Acinetobacter baumannii was the pathogen with the highest infection rate in male and female patients，but the infection rates of Staphylococcus aureus，Pseudomonas aeruginosa and Stenotrophomonas maltophilia showed no statistical significance in male and female patients（P>0.05）. The drug resistance of different Gram-negative bacilli had difference. The consistency between LAMP and bacterial culture methods was poor （the Kappa value was 0.221，P<0.001）The Kappa value for Klebsiella pneumoniae was 0.408（P<0.001）. Conclusions The pathogens with the highest determination rate in lower respiratory tract infection among respiratory intensive care unit patients are Acinetobacter baumannii，followed by methicillin-resistant Staphylococcus aureus，Klebsiella pneumoniae and Pseudomonas aeruginosa，while the infection rates of different pathogens differ with different seasons and between males and females，and LAMP plays a role in screening lower respiratory tract pathogens.

Subgingival flora and the relations between periodontal health indexes and risk of periodontal disease in patients with GDM

KE Qiulei, HUANG Jing, CHEN Aizheng, SONG Yanfeng, SU Xiaofeng

2023, 38(2):  163-166.  DOI: 10.3969/j.issn.1673-8640.2023.02.012

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Objective To study the distribution of subgingival flora in patients with gestational diabetes mellitus（GDM），and to study the correlation between periodontal health indexes and risk of periodontal disease in GDM. Methods By prospective study，from January 2020 to December 2021，120 patients with GDM diagnosed by the Second Affiliated Hospital of Guangdong Medical University were enrolled as GDM group. Totally，120 healthy pregnant women were enrolled as control group. The distribution of subgingival flora and the difference of periodontal health index between the 2 groups were compared. The relations of periodontal disease with gingival index（GI），sulcus bleeding index（SBI），attachment loss（AL） and probing depth（PD） in GDM pregnant women were evaluated by Spearman correlation analysis. Results The rates of Prevotella（Pi） of GDM group（χ²=182.751，P=0.000），Porphyromonas gingivalis（Pg）（χ²=136.861，P=0.000），Forsythiana（Tf）（χ²=116.182，P=0.000），Treponema denticulatum（Td）（χ²=84.731，P=0.000），Actinomycetes（Aa）（χ²=90.641，P=0.000） and Fusobacterium nucleatum（Fn）（χ²=72.681，P=0.000）were higher than those in control group. The GI（t=8.820，P=0.000），SBI（t=21.057，P=0.000） and AL（t=27.017，P=0.000）in GDM group were higher than those in control group. There was no statistical significance in PD between the 2 groups（P>0.05）. The GI（t=2.514，P=0.013），SBI（t=3.556，P=0.001） and AL（t=6.183，P=0.000） of GDM group were higher than those of control group. There was no statistical significance in PD between the 2 groups（P>0.05）. The incidence of GDM periodontitis was correlated with GI，SBI and AL（r=0.526，0.498 and 0.745，P=0.000）. Conclusions The subgingival flora of GDM patients are mainly Pi，Pg，Tf，Td，Aa and Fn. The periodontal health indexes of GDM patients are correlated with the risk of periodontal disease.

Role of Youden plot in external quality assessment of sperm concentration

ZHANG Weimin, LI Ting, ZHANG Chen, XIE Nan, ZHAO Fei, WU Xia, MENG Qinghao, LI Min, GAO Xuan, YANG Sijie

2023, 38(2):  167-171.  DOI: 10.3969/j.issn.1673-8640.2023.02.013

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Objective According to Youden plot in external quality assessment（EQA） of sperm concentration，to bring more efficient information from EQA report data，to discover systematical errors，and to improve determination quality. Methods The sperm concentration EQA data of Shandong province in 2019 and 2020 were collected，a Youden plot had been drawn，and the EQA report results of 2019 and 2020 were analyzed. Results The coefficient of variation（CV） of quality control meterial at low concentration levels in 2020（31%） was decreased compared with that in 2019（19%）（P<0.05），and the CV of quality control meterial at high concentration levels had no statistical significance（P=0.097）. Conclusions Youden plot can reflect the tendency of laboratory systematical errors for sperm concentration，so the participating laboratories can find the systematical errors directly.

Advance in laboratory diagnosis of invasive fungal infection

WANG Dongjiang, GUO Jian

2023, 38(2):  179-185.  DOI: 10.3969/j.issn.1673-8640.2023.02.016

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Invasive fungal infection has high morbidity and mortality with high cost of treatment，so the diagnosis of invasive fungal infection is important. Invasive fungal infection has similar clinical manifestations as other infections，and it is prone to misdiagnosis. There is an urgent need to improve the accurate diagnosis and treatment of invasive fungal infection. This review mainly introduces the development of clinical laboratory diagnosis of invasive fungal infection from the aspects of fungal culture and identification，antigen and antibody determinations and molecular biological determination.

Research progress of cyclic diguanylate on the regulation of Pseudomonas aeruginosa biofilm

FEI Bing, LIU Ying, REN Yanying, GUO Mengyu, LIU Xinwei, LIU Dongmei, LI Yongwei

2023, 38(2):  186-189.  DOI: 10.3969/j.issn.1673-8640.2023.02.017

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The transition of bacteria from planktonic growth to biofilm（BF） life cycle can promote the adhesion of bacteria to non-biological surfaces，evade host immune system，and increase resistance to common antibiotics. The current BF-forming bacteria have an increasing probability of human infection and greatly increase the energy and time required for treatment and recovery. The second messenger cyclic diguanylate（c-di-GMP） plays a role in the regulation of BF. The research on the treatment of antibiotic-resistant and BF-forming bacteria by directly targeting c-di-GMP signaling has shown promise. Therefore，this review summarizes the effect of c-di-GMP on the regulation of Pseudomonas aeruginosa BF.

Research progress of biomarkers of prostate cancer

WU Jiong, HU Jiahua, SHI Meifang, LIU Tao, DAI Jie, LU Xinyi, ZOU Zheng

2023, 38(2):  190-195.  DOI: 10.3969/j.issn.1673-8640.2023.02.018

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Prostate cancer is one of the most common cancers in males，and it has high incidence rate and mortality rate. Prostate-specific antigen（PSA） plays a role in prostate cancer screening. With the research progress of prostate cancer diagnosis and treatment，various biomarkers have emerged，which play a role in the whole process of prostate cancer diagnosis and treatment. Prostate health index（PHI），4K score，PCA3，selected MDx and exocrine intelligence scores，can effectively assist in the screening and diagnosis of prostate cancer. Blood circulating tumor cells（CTC） and circulating tumor DNA（ctDNA） can be used for the risk stratification of prostate cancer and the selection of therapeutic drugs，therapeutic responses and alternative endpoints of clinical trials. Genomic prostate score and Prolaris score of prostate cancer tissue samples can be used for prostate risk stratification. This review focuses on various biomarkers of prostate cancer in blood，urine and other specimen types.