Objective: To explore the difference in H4 clustered histone 6(H4C6) methylation level and circulating cell-free DNA (cfDNA) concentration between 94 normal group and 122 tumor groups (65 patients with lung cancer，22 patients with gastric cancer，23 patients with colorectal cancer，and 12 patients with liver cancer) ，and the age of total 216 subjects were between 18 and 85 years old．To construct a cancer risk prediction model based on H4C6 methylation level and cfDNA concentration and evaluate the predictive performance of the model． Methods: cfDNA was extracted from blood samples using magnetic beads．Qubit 4. 0 fluorescence quantitative meter was used to detect the concentration of cfDNA. Real-time quantitative PCR( RT-qPCR) technology was used to detect the methylation level of H4C6 in cfDNA．Logistic regression algorithm was used to construct a cancer risk prediction model of H4C6 methylation level combined with cfDNA concentration．The accuracy of the model was assessed using receiver operating characteristic (ROC) curve and calibration curve．The clinical benefit of the model was as- sessed using decision curve analysis (DCA) . Results: The model was constructed by combining H4C6 methylation level and cfDNA concentration to distinguish lung cancer，liver cancer，colorectal cancer，gastric cancer，pancancer from healthy control group had the area under curve (AUC) of 0. 769，0. 988，0. 934，0. 922，0. 830，respectively．The mean absolute error of the calibration curve was less than 0. 05 ; the net benefit of the DCA curve was greater than 0． Conclusion The cancer risk prediction model based on H4C6 methylation level and cfDNA concentration has good predictive performance，which helps to provide reasonable and effective suggestions for preclinical decision-making，and ultimately may provide patients with targeted and personalized cancer detection and diagnosis program.

Objective:To compare the complications associated with various urinary flow diversion methods and identify the factors that contribute to the decline in renal function after radical total cystectomy for myoinfiltrating urothelial carcinoma.Methods:This study conducted a retrospective analysis on the clinical data of 46 patients with pathologically confirmed muscle-invasive bladder cancer.The patients underwent laparoscopic radical cystectomy with either ileal conduit diversion(n=21)or ureterocutaneous diversion(n=25)between January 2017 and December 2021.Perioperative data, postoperative pathology, postoperative complications, and follow-up results were compared between the two groups.Results:The study found significant differences between the two groups in terms of age[(67±6)years vs.(73±8)years, t=3.132, P=0.003], Charlson comorbidity index adjusted for age[(3.80±1.15) vs.(4.52±1.03), t=2.223, P=0.031], prognostic nutritional index[(48.81±5.74) vs.(43.64±4.74), t=3.347, P=0.002], operation time[(449±108)minutes vs.(326±130)minutes, P=0.001]], hospital stay[(20.1±11.1)days vs.(13.3±5.2)days, t=2.762, P=0.008], proportion of Clavien grade 3 or higher complications within 3 months after surgery(4/21 vs 0/25, χ2=2.105, P<0.05), and proportion of stoma-free patients(18/21 vs.5/25, χ2=6.373, P<0.01). According to Logistic multivariate analysis, perioperative blood transfusion and urinary tract infection were identified as independent risk factors for renal function decline 12 months after surgery.Escherichia coli was found to be the most common bacteria cultured from urinary tract infections in both groups after surgery. Conclusions:Laparoscopic radical cystectomy with ureterocutaneous diversion offers benefits such as shorter hospital stays and fewer perioperative complications for older and frail patients.However, a higher proportion of patients may require ureteral stenting.It is important to note that perioperative blood transfusion and urinary tract infection are major risk factors for renal function decline following radical cystectomy.

Objective : To construct a cell-free DNA ( cfDNA) methylation model for early screening in male pa- tients with gastric cancer by using novel cfDNA methylation detection technology． Methods : Methylation informa- tion of the whole genome of gastric cancer patients were detected by cell-free methylated DNA immunoprecipitation and highthroughput sequencing ( cfMeDIP-seq ) technology and locate gastrogenic cfDNA． Then bioinformation methods were used to extract specific methylation labels which could distinguish GC patients and establish diagnosis model by random forest algorithm. Related validation clinical researches were also conducted. Results : 63 most sig- nificant DMR were selected to construct the cfDNA methylation model based on GC samples and normal control samples，the goal sensitivity was above 85 percent while the goal specificity was above 95% ．The sensitivity and specificity of the validation set were 98. 7% and 99. 0% while the area under curve(AUC) was 0. 999． Conclusion The cfDNA methylation model constructed in this study has good performance in predicting GC.

OBJECTIVETo explore clinical features and mutation types in patients from Fujian area with glutaric academia type I(GA I).

METHODSSerum acylcarnitine and urine organic acid of 3 patients were determined with tandem mass spectrometry and gas chromatographic mass spectrometry. The patients also underwent magnetic resonance imaging analysis for the cranial region. Genomic DNA was extracted from peripheral blood samples, and the 12 exons and flanking regions of the GCDH gene were amplified with PCR and subjected to direct DNA sequencing. One hundred healthy newborns were used as controls.

RESULTSMutations of the GCDH gene were identified in all of the 3 patients. Two patients have carried compound heterozygous mutations including c.1244-2A>C and c.1147C>T(p.R383C), c.406G>T(p.G136C) and c.1169G>A(p.G390E), respectively. One has carried homozygous c.1244-2A>C mutation. The same mutations were not detected among the 100 healthy newborns. Only one patient received early intervention and did not develop the disease. The other two had irreversible damagesto their intelligence.

CONCLUSIONc.1169G>A(p.G390E) is likely pathogenic mutations for GA I patients from Fujianarea. Early screening of neonatal metabolic diseases is crucial for such patients.

Objective To assess the association of single nucleotide polymorphisms (SNPs)of biliverdin reductase A (BLVRA) with neonatal hyperbilirubinemia from Fujian area.Methods A total of 286 patients with neonatal hyperbilirubinemia and 250 healthy controls were enrolled.Genotypes of 5 SNPs within BLVRA gene including rs699512,rs1802846,rs7738,rs1637530 and rs2302032 were determined with matrix-assisted laser desorption ionization/time of flight mass spectrometer.The frequencies of genotype,allele,haplotype and their differentiations were analyzed.Results All 5 SNPs had conformed to Hardy-Weinberg equilibrium (all P ＞ 0.05).rs699512 and rs1637530 showed a significant difference between the 2 groups in both allelic and genotypic frequencies (all P ＜ 0.05),but no significant differences were found in the other SNPs(all P ＞ O.05).In recessive model,the frequency of rs699512 GG genotype of patients was significantly lower than that of the healthy control group(OR =0.494,95％ CI:0.276-0.886,P =0.018),while in dominant model,the frequencies of rs699512 GG + AG and rs1637530 TT + CT genotype of patients were significantly lower than that of the healthy control group(OR =0.678,0.627;95％ CI:0.482-0.954,0.444-0.885;P =0.026,0.008).Based on linkage disequilibrium analysis and haplotype construction,rs1637530,rs2302032,rs699512 and rs1802846 locus in the same area.Based on haplotype CGAT,TGGT,CTAT and CGGT had significant differences between the 2 groups (all P ＜ 0.05),and could reduce the risk of high blood bilirubin (OR =0.588,0.687,0.501;95％ CI:0.434-0.797,0.496-0.952,0.250-1.004).Conclusions rs699512 and rs1637530 may be associated with neonatal hyperbilirubinemia,A allele in rs699512 and C allele in rs1637530 may be associated with significantly increased risk of neonatal hyperbilirubinemia.

Mutations in the mitochondrial DNA have been certified to be one of the most important causes of maternally inherited sensorineural hearing loss. Among these, mitochondrial 12S rRNA1555A>G, 1494C>T and other mutations are associated with both nonsyndromic and drug induced hearing loss caused by aminoglycosides. Individuals carrying 1555A>G or 1494C>T mutation have a variety of clinical manifestations, which implies that the 1555A>G or 1494C>T mutation is a chief factor underlying the development of deafness but insufficient to produce the clinical phenotype. Therefore other modifier factors, such as aminoglycosides, mitochondrial haplotypes, secondary mutation or nuclear modifier genes, may play an important role in the phenotypic expression of the deafness-associated mitochondrial 12S rRNA1555A>G or 1494C>T mutation. In this review, the modifier factors for the phenotypic expression of deafness-associated mitochondrial 12S rRNA1555A>G or 1494C>T mutations were summarized and proposed the pathogenesis of maternally inherited deafness.

OBJECTIVETo assess the frequencies of CYP21A2 gene mutations among patients from Fujian area with classical 21-hydroxylase deficiency.

METHODSFor 19 probands from different families affected with classical steroid 21-hydroxylase deficiency and 74 family members, mutations of the CYP21A2 gene were analyzed with combined nested polymerase chain reaction, Sanger sequencing and multiplex ligation-dependent probe amplification. Time resolved fluorescence immunoassay was performed to determine the level of 17-hydroxyprogesterone (17-OHP) in all family members. Clinical data and laboratory results of the probands and their family members were analyzed.

RESULTSEleven mutations were identified among the 38 alleles from the 19 probands. 92.1% (35/38) of the mutant CYP21A2 alleles were due to recombination between CYP21A2 and CYP21A1P. Gene conversion and deletions were identified in 84.2% (32/38) and 7.9% (3/38) of the alleles, respectively. IVS2-13A/C>G and chimeras were the most common mutations, which respectively accounted for 34.2% (13/38) and 18.4% (7/38) of all mutant alleles. Among these, IVS2+1G>A and Q318X+356W were first reported in China. 74.3% (55/74) of the family members were carriers of heterozygous mutations. However, no significant difference was found in the 17-OHP levels between carriers and non-carriers (P>0.05).

CONCLUSIONThere seems to be a specific spectrum of CYP21A2 gene mutations in Fujian area, where IVS2-13A/C>G and chimeras are the most common mutations.

Adrenal Hyperplasia, Congenital ; genetics ; Alleles ; Female ; Humans ; Male ; Mutation ; genetics ; Steroid 21-Hydroxylase ; genetics

OBJECTIVETo assess the association of thyroperoxidase (TPO) gene polymorphisms with dyshormonogenesis in congenital hypothyroidism (CH).

METHODSThe 17 exons and flanking introns of the TPO gene from 30 randomly selected samples were sequenced for the selection of single nucleotide polymorphisms (SNPs). In 136 patients with dyshormonogenetic CH and 141 healthy controls from the same region, the selected SNPs were genotyped by polymerase chain reaction (PCR) and direct sequencing or PCR-restriction fragment length polymorphism (RFLP).

RESULTSSix SNPs (rs9678281, rs376413622, rs1126797, rs4927611, rs732609 and rs1126799) were selected to determine the genotype for each sample. Among these, rs4927611 and rs732609 showed a significant difference between the two groups in both allelic and genotypic frequencies. With a recessive model of inheritance, rs732609 CC (OR=0.484, 95%CI: 0.253-0.927, P=0.04) and rs4927611 TT (OR=0.32, 95%CI: 0.112-0.915, P=0.047) were greater in the patients.

CONCLUSIONrs4927611 and rs732609 may be associated with dyshormonogenetic CH. rs4927611 TT and rs732609 CC are genotypes associated with potential risk for the disease.

Alleles ; Autoantigens ; genetics ; Base Sequence ; Child, Preschool ; Congenital Hypothyroidism ; blood ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Infant ; Infant, Newborn ; Iodide Peroxidase ; genetics ; Iron-Binding Proteins ; genetics ; Linkage Disequilibrium ; Male ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide ; Risk Factors ; Thyrotropin ; blood ; Thyroxine ; blood

Objective To explore three under nasal endoscope surgery treatment the clinical curative effect of maxillary sinus cyst.Methods 95 cases of maxillary sinus cyst patients were chosen,the maxillary sinus were used respectively to open to expand,the nasal passages of maxillary sinus fenestration and maxillary sinus anterior wall fen-estration three types of surgical treatment,postoperative follow -up of 1 year,the clinical curative effect of three kinds of operation method were analyzed.Results The maxillary sinus mouth open expansion of 39 cases during operation,37 cases were cured,2 cases of recurrence;The nasal passages under the maxillary sinus fenestration 27 cases, 26 cases cured,1 case of recurrence;The maxillary sinus anterior wall fenestration 29 cases,29 cases healed;Three kinds of operation cure rate difference had no statistical significance(P >0.05).Conclusion The treatment of max-illary sinus cyst operation should be selected according to the location and size of cysts and whether the various associ-ated withnasal sinuses diseases and other factors determine the.Maxillary sinus cyst neararound the maxillary sinus, sinus cavity lateral wall or with sinus disease can use theostium of maxillary sinus extending open surgery path;near the sinus cavity innerwall and the bottom wall can use windowing of the inferior nasal meatus approach;near the front wall of sinus cavity and large cysts or recurrence can be choice ofmaxillary sinus by fenestration operation path;the purpose is to remove the cystoccurs completely,reduce tissue injury and complications.

OBJECTIVETo study the characteristics of phenylalanine hydroxylase gene (PAH) mutations in patients with PAH deficiency in Fujian population.

METHODSPeripheral blood samples of 36 patients and their parents with classical type phenylketouria (PKU) were collected. Genomic DNA was extracted. Following PCR amplification, DNA sequencing was carried out to identify the origins of mutations.

RESULTSTwenty types mutations were identified in 63 of the 72 alleles. The most common mutations were R241C, R408Q and Ex6-96A>G, which respectively accounted for 15.9%, 12.7% and 11.1% of all mutant alleles. The c.189_190dupTGAC mutation was first reported. R241C was associated with 28% of mild hyperphenylalaninemia and R408Q is associated with 25% of classical PKU.

CONCLUSIONThere is a specific spectrum of PAH gene mutation in Fujian region. R241C, R408Q and Ex6-96A>G are the most common mutations.

Adolescent ; Alleles ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Child, Preschool ; China ; Female ; Genotype ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Phenylalanine Hydroxylase ; genetics ; Phenylketonurias ; enzymology ; genetics