The aim of this study was to qualitatively and quantitatively detect coronavirus(CoV)in the feces of bats from Qinghua Cave,Yunnan Province,China.CoV was qualitatively tested with reverse transcription polymerase chain reaction(RT-PCR),and homology and genetic evolution were analyzed with bioinformatics software.The established reverse transcription real-time fluores-cence quantitative PCR(qRT-PCR)method was applied to CoV quantification in bat feces.The positivity rate of CoV in 306 fecal samples collected from the fulvous fruit bat(Rousettus leschenaultia)was 7.8%(24/306)according to RT-PCR.All 24 strains of CoV belonged to β-CoV,and showed a similarity of 86.8%-100.0%at the nucleotide level and 95.2%-100.0%at the amino acid level,with respect to other β-CoV sequences in the NCBI database.The positivity rate of CoV was 18.6%(57/306)according to qRT-PCR,a value higher than that according to RT-PCR(χ2=25.3,P<0.05).The mean β-CoV load was 1.3×103 copies/μL.In conclusion,the bats in Qinghua Cave,Yunnan Province,carried CoV belonging to β-CoV.The established qRT-PCR method achieved good sensitiv-ity,accuracy,reproducibility,and a higher detection rate than that of RT-PCR,and can be used for rapid detection of β-CoV in bats.

Objective:To explore the genetic etiology of a child with Renpenning syndrome (RS), and review the literature on the clinical characteristics and gene mutations of RS.Methods:A child with RS (patient 1) who was diagnosed and treated in the Pediatric Intensive Care Unit of the Third Affiliated Hospital of Zhengzhou University in November 2023 was selected as the research object. The medical history, family history, physical examination, cerebrospinal fluid examination, echocardiography, brain magnetic resonance imaging (MRI), brain magnetic resonance angiography, cardiac coronary CT angiography and intelligence quotient (IQ) score of child 1 were retrospectively collected. Peripheral venous blood samples were collected from patient 1, his parents, sister and brother, respectively. Genomic DNA was extracted from the child and his family members, and three-whole exome sequencing (Trios-WES) was performed. Sanger sequencing was used to verify the pedigree. Bioinformatics softwares (Mutation Taster, REVEL, SIFT, PolyPhen-2, GERP+ +, SWISS-MODEL) were applied. The pathogenicity of the detected variants was rated according to the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Classification of Genetic Variants (hereinafter referred to as the ACMG Guidelines). " PQBP1 gene" " Renpenning syndrome" " PQBP1 gene" " Renpenning syndrome" were used as keywords in Chinese and English, respectively. Case reports of patients with RS caused by PQBP1 gene variants were retrieved from Wanfang Data Knowledge Service Platform, China National Knowledge Infrastructure and PubMed database. The clinical features and gene variants of RS caused by PQBP1 gene variants were summarized and analyzed. This study was reviewed by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Approval No. 2024-334-01). Results:The patient 1, a 12-year-old boy, was admitted to the hospital due to fever and disturbance of consciousness. Cerebrospinal fluid test showed viral encephalitis caused by human herpesvirus 7 infection. The main clinical manifestations were unusual facies (microcephaly, long narrow face, microphthalmos, superior oblique palpebral fissure, hypertelorism of inner canthus, bulbous nasal columella) and mental retardation. Auxiliary examination showed than patient 1 had atrial septal defect, nodular heterotopia in the posterior horn of the left ventricle, angiodysplasia, and low IQ. The disease began in infancy, and there was no family history of related diseases. A hemizygous deletion, c. 459_462del (p.Arg153SerfsTer41), was identified in exon 5 of the PQBP1 gene in patient 1, which was inherited from his mother by Sanger sequencing. The results of bioinformatics analysis showed that the mutation was harmful. This variant was rated as pathogenic (PVS1+ PS4+ PM2_Supporting+ PP3) according to ACMG Guidelines. According to the literature search strategy set in this study, a total of 13 cases of RS were retrieved, involving 16 cases of RS patient caused by PQBP1 gene mutation (patients 2-17), including patient 1, a total of 17 cases of RS. Among the 17 patients, 16 male patients had hemizygous mutations in the X chromosome PQBP1 gene, and 1 female patient had heterozygous mutations, including 12 deletion frameshift nonsense mutations, 3 point missense mutations, and 2 duplication mutations. Except for two fetuses, all patients had special facial features and low IQ to varying degrees. Ten patients had abnormal development of one or more organs such as eyes, heart, brain, etc. Conclusion:The main clinical manifestations of RS are developmental delay, long narrow face, bulbous nose, microcephaly, and may be accompanied by heterotopia of gray matter of ventricle and congenital heart disease. The c. 459_462del (p.Arg153SerfsTer41) variant of the PQBP1 gene is the genetic basis of patient 1 in this study.

OBJECTIVE: To explore the genetic etiology of a child with Renpenning syndrome (RS), and review the literature on the clinical characteristics and gene mutations of RS. METHODS: A child with RS (patient 1) who was diagnosed and treated in the Pediatric Intensive Care Unit of the Third Affiliated Hospital of Zhengzhou University in November 2023 was selected as the research object. The medical history, family history, physical examination, cerebrospinal fluid examination, echocardiography, brain magnetic resonance imaging (MRI), brain magnetic resonance angiography, cardiac coronary CT angiography and intelligence quotient (IQ) score of child 1 were retrospectively collected. Peripheral venous blood samples were collected from patient 1, his parents, sister and brother, respectively. Genomic DNA was extracted from the child and his family members, and Trios-whole exome sequencing (Trios-WES) was performed. Sanger sequencing was used to verify the pedigree. Bioinformatics softwares (Mutation Taster, REVEL, SIFT, PolyPhen-2, GERP++, SWISS-MODEL) were applied. The pathogenicity of the detected variants was rated according to the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Classification of Genetic Variants (hereinafter referred to as the ACMG Guidelines). "PQBP1 gene" "Renpenning syndrome" "PQBP1 gene" "Renpenning syndrome" were used as keywords in Chinese and English, respectively. Case reports of patients with RS caused by PQBP1 gene variants were retrieved from Wanfang Data Knowledge Service Platform, China National Knowledge Infrastructure and PubMed database. The clinical features and gene variants of RS caused by PQBP1 gene variants were summarized and analyzed. This study was reviewed by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Approval No. 2024-334-01). RESULTS The patient 1, a 12-year-old boy, was admitted to the hospital due to fever and disturbance of consciousness. Cerebrospinal fluid test showed viral encephalitis caused by human herpesvirus 7 infection. The main clinical manifestations were unusual facies (microcephaly, long narrow face, microphthalmos, superior oblique palpebral fissure, hypertelorism of inner canthus, bulbous nasal columella) and mental retardation. Auxiliary examination showed than patient 1 had atrial septal defect, nodular heterotopia in the posterior horn of the left ventricle, angiodysplasia, and low IQ. The disease began in infancy, and there was no family history of related diseases. A hemizygous deletion, c.459_462del (p.Arg153SerfsTer41), was identified in exon 5 of the PQBP1 gene in patient 1, which was inherited from his mother by Sanger sequencing. The results of bioinformatics analysis showed that the mutation was harmful. This variant was rated as pathogenic (PVS1+PS4+PM2_Supporting+PP3) according to ACMG Guidelines. According to the literature search strategy set in this study, a total of 13 cases of RS were retrieved, involving 16 cases of RS patient caused by PQBP1 gene mutation (patients 2-17), including patient 1, a total of 17 cases of RS. Among the 17 patients, 16 male patients had hemizygous mutations in the X chromosome PQBP1 gene, and 1 female patient had heterozygous mutations, including 12 deletion frameshift nonsense mutations, 3 point missense mutations, and 2 duplication mutations. Except for two fetuses, all patients had special facial features and low IQ to varying degrees. Ten patients had abnormal development of one or more organs such as eyes, heart, brain, etc. CONCLUSION: The main clinical manifestations of RS are developmental delay, long narrow face, bulbous nose, microcephaly, and may be accompanied by heterotopia of gray matter of ventricle and congenital heart disease. The c.459_462del (p.Arg153SerfsTer41) variant of the PQBP1 gene is the genetic basis of patient 1 in this study.
Humans ; Male ; Mutation ; Pedigree ; Child ; DNA-Binding Proteins/genetics* ; Nuclear Proteins/genetics* ; Female ; Exome Sequencing

ObjectiveTo analyze the incidence rate and mortality of acute myocardial infarction (AMI) and their changing trends among the registered residents in Xiaoshan District, Hangzhou City from 2017 to 2023, so as to provide references for formulating policies related to AMI prevention. MethodsThe morbidity and mortality data of AMI among the registered residents in Xiaoshan District from 2017 to 2023 were collected through the Hangzhou Chronic Disease and Death Cause Monitoring System. Software such as Excel 2019, SPSS 25.0 and Joinpoint 4.9.1.0 were used to calculate the incidence rate, mortality, and average annual percentage change (AAPC) of AMI. ResultsFrom 2017 to 2023, the average annual crude incidence rate, age-standardized incidence rate using China standard population (ASIRC), and the age-standardized incidence rate using World standard population (ASIRW) of AMI in Xiaoshan District were 48.25/100 000, 29.14/100 000, and 21.64/100 000, respectively, and, from which the AAPCs were 5.495%, 6.010%, and 6.533%, respectively, all showing an upward trend. The average annual crude mortality rate, the age-standardized mortality rate using China standard population (ASMRC), and the age-standardized mortality rate using World standard population (ASMRW) were 11.76/100 000, 6.52/100 000, and 4.71/100 000, respectively, from which the AAPCs were -9.669%, -10.433% and -9.615%, respectively, all showing a downward trend. The average annual crude incidence rate of AMI was higher in males (65.87/100 000) than that in females (31.31/100 000). Moreover, the average annual crude mortality rate of AMI was higher in males (14.08/100 000) than that in females (9.52/100 000), and the difference was statistically significant (all P<0.001) .After age grouping, the crude incidence rate of AMI among the residents aged 35-, 45-, 55-, and 65- years in Xiaoshan District from 2017 to 2023 showed an upward trend over time, with AAPCs of 16.993%, 17.149%, 8.523%, and 5.002%, respectively. While the crude mortality rate in residents aged 35-, 75-, and 85-102 years showed an decreasing trend over time, with AAPCs of -23.977%, -15.467%, and -17.415%, respectively, but there was no statistically significant difference in the trends in incidence rate and mortality of other age groups (all P>0.05). ConclusionThe situation of AMI prevention and control among the registered residents in Xiaoshan District is not optimistic, and targeted measures should be strengthened for the male residents aged ≥35 years old.

Objective:To sinicize the English version of the rapid eye movement sleep behavior disorder symptom severity scale (RBDSSS) and to evaluate the reliability and validity of the Chinese version of RBDSSS (RBDSSS-C) among Chinese patients with rapid eye movement sleep behavior disorder (RBD).Methods:RBDSSS-C was ultimately formed through translation, back translation and revision according to the Brislin's translation model, including patient version (RBDSSS-PT) and bedpartner version (RBDSSS-BP). A questionnaire survey was conducted among 120 RBD patients to test the reliability and validity of the RBDSSS-C, using Cronbach’s α coefficient, Spearman-Brown coefficient, Spearman correlation analysis, content validity index and factor analysis. The correlation between RBDSSS-C and RBDQ-HK was examined.Results:For the Chinese version of RBDSSS-PT, the Cronbach’s α was 0.795, the split-half reliability was 0.756, and the test-retest reliability was 0.940. Item-level content validity indices (I-CVI) ranged from 0.833 to 1.000, and the scale-level CVI (S-CVI) was 0.937.For the Chinese version of RBDSSS-BP, the Cronbach’s α was 0.712, the split-half reliability was 0.813, and test-retest reliability was 0.950, with both I-CVI and S-CVI at 1.000.The scores of Chinese version of RBDSSS-PT and RBDSSS-BP were both significantly correlated with RBDQ-HK scores ( r=0.638, P<0.001 for RBDSSS-PT; r=0.639, P<0.001 for RBDSSS-BP). Factor analysis confirmed both single-factor structure for RBDSSS-PT and RBDSSS-BP.RBDSSS-PT showed χ2/ df=3.930, CFI=0.954, TLI=0.937, and RMSEA=0.093; RBDSSS-BP showed χ2/ df=8.300, CFI=0.975, TLI=0.966, and RMSEA=0.079. These results indicated adequate model fit. Conclusion:RBDSSS-C has good reliability and validity, and can be used as a reliable and effective tool to evaluate the severity of symptoms in Chinese RBD patients.

Objective:To sinicize the English version of the rapid eye movement sleep behavior disorder symptom severity scale (RBDSSS) and to evaluate the reliability and validity of the Chinese version of RBDSSS (RBDSSS-C) among Chinese patients with rapid eye movement sleep behavior disorder (RBD).Methods:RBDSSS-C was ultimately formed through translation, back translation and revision according to the Brislin's translation model, including patient version (RBDSSS-PT) and bedpartner version (RBDSSS-BP). A questionnaire survey was conducted among 120 RBD patients to test the reliability and validity of the RBDSSS-C, using Cronbach’s α coefficient, Spearman-Brown coefficient, Spearman correlation analysis, content validity index and factor analysis. The correlation between RBDSSS-C and RBDQ-HK was examined.Results:For the Chinese version of RBDSSS-PT, the Cronbach’s α was 0.795, the split-half reliability was 0.756, and the test-retest reliability was 0.940. Item-level content validity indices (I-CVI) ranged from 0.833 to 1.000, and the scale-level CVI (S-CVI) was 0.937.For the Chinese version of RBDSSS-BP, the Cronbach’s α was 0.712, the split-half reliability was 0.813, and test-retest reliability was 0.950, with both I-CVI and S-CVI at 1.000.The scores of Chinese version of RBDSSS-PT and RBDSSS-BP were both significantly correlated with RBDQ-HK scores ( r=0.638, P<0.001 for RBDSSS-PT; r=0.639, P<0.001 for RBDSSS-BP). Factor analysis confirmed both single-factor structure for RBDSSS-PT and RBDSSS-BP.RBDSSS-PT showed χ2/ df=3.930, CFI=0.954, TLI=0.937, and RMSEA=0.093; RBDSSS-BP showed χ2/ df=8.300, CFI=0.975, TLI=0.966, and RMSEA=0.079. These results indicated adequate model fit. Conclusion:RBDSSS-C has good reliability and validity, and can be used as a reliable and effective tool to evaluate the severity of symptoms in Chinese RBD patients.

Objective To investigate the effect of drug-eluting bead DACE(DEB-TACE)combined with systemic treatment for hepatocellular carcinoma(HCC)in different locations.Methods A total of 204 HCC patients who underwent DEB-TACE combined with systemic therapy(targeted and immunotherapy)were retrospectively collected.According to the anatomical location of HCC,86 cases with lesions located at the main trunk of portal vein(PV)or within 1 cm of the first PV branch were classified into central type group,while 118 cases with lesions located at the other areas were classified as peripheral type group.Follow-up was regularly performed after DEB-TACE until August,2024.The objective response rate(ORR)and disease control rate(DCR)at 1,3,6 and 12 months after DEB-TACE,also patients'progression-free survival(PFS)and overall survival(OS)were compared between groups.Results All patients were followed up for a median of 32.6 months,during which 164 cases died.Significant differences of ORR at 1 and 3 months after DEB-TACE(77.91％[67/86]vs.89.83％[106/118],34.88％[30/86]vs.54.24％[64/118])and DCR at 3 and 6 months after DEB-TACE(51.16％[44/86]vs.66.95％[79/118],34.88％[30/86]vs.50.00％[59/118])were found between groups(all P＜0.05).Patients'PFS(30.18[9.12,48.54]months)and OS(37.36[17.79,56.68])in peripheral type group were better than those in central type group(20.11[11.35,28.87]months and 23.24[3.11,43.47]months,x2=3.971,4.162,P=0.048,0.041).Conclusion The effect of DEB-TACE combined with systemic treatment for peripheral type HCC was better than for central type HCC.

Objective:To explore the genetic etiology of a child with Renpenning syndrome (RS), and review the literature on the clinical characteristics and gene mutations of RS.Methods:A child with RS (patient 1) who was diagnosed and treated in the Pediatric Intensive Care Unit of the Third Affiliated Hospital of Zhengzhou University in November 2023 was selected as the research object. The medical history, family history, physical examination, cerebrospinal fluid examination, echocardiography, brain magnetic resonance imaging (MRI), brain magnetic resonance angiography, cardiac coronary CT angiography and intelligence quotient (IQ) score of child 1 were retrospectively collected. Peripheral venous blood samples were collected from patient 1, his parents, sister and brother, respectively. Genomic DNA was extracted from the child and his family members, and three-whole exome sequencing (Trios-WES) was performed. Sanger sequencing was used to verify the pedigree. Bioinformatics softwares (Mutation Taster, REVEL, SIFT, PolyPhen-2, GERP+ +, SWISS-MODEL) were applied. The pathogenicity of the detected variants was rated according to the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Classification of Genetic Variants (hereinafter referred to as the ACMG Guidelines). " PQBP1 gene" " Renpenning syndrome" " PQBP1 gene" " Renpenning syndrome" were used as keywords in Chinese and English, respectively. Case reports of patients with RS caused by PQBP1 gene variants were retrieved from Wanfang Data Knowledge Service Platform, China National Knowledge Infrastructure and PubMed database. The clinical features and gene variants of RS caused by PQBP1 gene variants were summarized and analyzed. This study was reviewed by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Approval No. 2024-334-01). Results:The patient 1, a 12-year-old boy, was admitted to the hospital due to fever and disturbance of consciousness. Cerebrospinal fluid test showed viral encephalitis caused by human herpesvirus 7 infection. The main clinical manifestations were unusual facies (microcephaly, long narrow face, microphthalmos, superior oblique palpebral fissure, hypertelorism of inner canthus, bulbous nasal columella) and mental retardation. Auxiliary examination showed than patient 1 had atrial septal defect, nodular heterotopia in the posterior horn of the left ventricle, angiodysplasia, and low IQ. The disease began in infancy, and there was no family history of related diseases. A hemizygous deletion, c. 459_462del (p.Arg153SerfsTer41), was identified in exon 5 of the PQBP1 gene in patient 1, which was inherited from his mother by Sanger sequencing. The results of bioinformatics analysis showed that the mutation was harmful. This variant was rated as pathogenic (PVS1+ PS4+ PM2_Supporting+ PP3) according to ACMG Guidelines. According to the literature search strategy set in this study, a total of 13 cases of RS were retrieved, involving 16 cases of RS patient caused by PQBP1 gene mutation (patients 2-17), including patient 1, a total of 17 cases of RS. Among the 17 patients, 16 male patients had hemizygous mutations in the X chromosome PQBP1 gene, and 1 female patient had heterozygous mutations, including 12 deletion frameshift nonsense mutations, 3 point missense mutations, and 2 duplication mutations. Except for two fetuses, all patients had special facial features and low IQ to varying degrees. Ten patients had abnormal development of one or more organs such as eyes, heart, brain, etc. Conclusion:The main clinical manifestations of RS are developmental delay, long narrow face, bulbous nose, microcephaly, and may be accompanied by heterotopia of gray matter of ventricle and congenital heart disease. The c. 459_462del (p.Arg153SerfsTer41) variant of the PQBP1 gene is the genetic basis of patient 1 in this study.

Objective To investigate the effect of drug-eluting bead DACE(DEB-TACE)combined with systemic treatment for hepatocellular carcinoma(HCC)in different locations.Methods A total of 204 HCC patients who underwent DEB-TACE combined with systemic therapy(targeted and immunotherapy)were retrospectively collected.According to the anatomical location of HCC,86 cases with lesions located at the main trunk of portal vein(PV)or within 1 cm of the first PV branch were classified into central type group,while 118 cases with lesions located at the other areas were classified as peripheral type group.Follow-up was regularly performed after DEB-TACE until August,2024.The objective response rate(ORR)and disease control rate(DCR)at 1,3,6 and 12 months after DEB-TACE,also patients'progression-free survival(PFS)and overall survival(OS)were compared between groups.Results All patients were followed up for a median of 32.6 months,during which 164 cases died.Significant differences of ORR at 1 and 3 months after DEB-TACE(77.91％[67/86]vs.89.83％[106/118],34.88％[30/86]vs.54.24％[64/118])and DCR at 3 and 6 months after DEB-TACE(51.16％[44/86]vs.66.95％[79/118],34.88％[30/86]vs.50.00％[59/118])were found between groups(all P＜0.05).Patients'PFS(30.18[9.12,48.54]months)and OS(37.36[17.79,56.68])in peripheral type group were better than those in central type group(20.11[11.35,28.87]months and 23.24[3.11,43.47]months,x2=3.971,4.162,P=0.048,0.041).Conclusion The effect of DEB-TACE combined with systemic treatment for peripheral type HCC was better than for central type HCC.

The aim of this study was to qualitatively and quantitatively detect coronavirus(CoV)in the feces of bats from Qinghua Cave,Yunnan Province,China.CoV was qualitatively tested with reverse transcription polymerase chain reaction(RT-PCR),and homology and genetic evolution were analyzed with bioinformatics software.The established reverse transcription real-time fluores-cence quantitative PCR(qRT-PCR)method was applied to CoV quantification in bat feces.The positivity rate of CoV in 306 fecal samples collected from the fulvous fruit bat(Rousettus leschenaultia)was 7.8%(24/306)according to RT-PCR.All 24 strains of CoV belonged to β-CoV,and showed a similarity of 86.8%-100.0%at the nucleotide level and 95.2%-100.0%at the amino acid level,with respect to other β-CoV sequences in the NCBI database.The positivity rate of CoV was 18.6%(57/306)according to qRT-PCR,a value higher than that according to RT-PCR(χ2=25.3,P<0.05).The mean β-CoV load was 1.3×103 copies/μL.In conclusion,the bats in Qinghua Cave,Yunnan Province,carried CoV belonging to β-CoV.The established qRT-PCR method achieved good sensitiv-ity,accuracy,reproducibility,and a higher detection rate than that of RT-PCR,and can be used for rapid detection of β-CoV in bats.