Objective To observe the effect of Triclosan( TCS) exposure on Caenorhabditis elegans( c. ele-gans) F1 generation of locomotory behavior, brood size, and generation time. Methods The trial included a control group and 4 TCS treatment groups with different doses (100 nmol/L,1 μmol/L,10μmol/L,20μmol/L),the exposure time being 24 hours,the effect of c. elegans′head thrashes,body bending frequency,the brood size and generation time was observed. Results (1) The control group exposed to 100 nmol/L,1 μmol/L,10 μmol/L,20 μmol/L TCS,their head thrash frequency of c. elegans F1 was(109. 40±8. 61) times/min,(84. 70±7. 82) times/min,(76. 35±7. 44) times/min,(74. 74±5. 93)times/min,(71. 95±4. 19)times/min,respectively,the head thrash ability of c. elegans was significantly inhibited(F=62. 245,P<0. 01). (2) When the control group was exposed to 100 nmol/L,1 μmol/L,10μmol/L,20 μmol/LTCS,the frequency of c.elegans F1 body bent was (19.94±2.46)times/20 s,(15.13±1.99) times/20 s,(14.63±2.31)times/20 s,(14.69±1.96)times/20 s,(12.00±1.86)times/20 s,respectively,and the comparative differences between groups were statistically significant(F=25. 636,P<0. 01). (3) When the control group was exposed to 0,100 nmol/L,1 μmol/L,10 μmol/L,20 μmol/L TCS,the body sizes of the c. elegans F1 generation was (286.83±6.01)articles,(273.33±6.41)articles,(214.17±7.25)articles,(173.67±9.20)articles, (118. 50 ± 6. 98 ) articles, respectively, the brood size of the C. elegans F1 generation exposed to 100 nmol/L, 1μmol/L,10 μmol/L,20 μmol/L TCS levels,were reduced by 4. 71%,25. 60%,39. 45%,58. 67%,the ge-neration time of the c. elegans′F1 generation was shortened by 2. 14%-5. 38% in the TCS treatment groups compared with the control group(F=27. 520,P<0. 01). Conclusions After c. elegans exposure to TCS,locomotory behavior can be severe-ly affected,reproductive damage causes a decline in the number of brood size,and the speeding-up of the breeding rate is related to the concentration of TCS concentration-response.

Objective: To explore the managemental essential ,we have Analyzed retrospectively 4635 articles collected by nation for 15 years in our hospital . Methods: According to the article database which collected our hospital's published articles from 1990-2004 provided by the center of article statistics and analyze of china science and technology institute of national department of science and technology, Windows Access 2000 was used to export articles, and Excel was used to sort﹑collect the results. Results: The embodied number was increased year by year , the authors were mainly from key department, clinical department with master or doctor degree and with high title of professional post, the condition of embodied articles is positive related with research level. Conclusion: It has validated the objective and meaning of the article management; and explained that the article is the talents strength expression,the science research platform,the science research management effects,the subject building collection and the symbol of connecting with the world .

OBJECTIVE: To apply combined non-invasive prenatal testing (NIPT), chromosomal karyotyping and chromosomal microarray for the screening and prenatal diagnosis of a fetus with supernumerary small marker chromosome (sSMC). METHODS: Standard NIFTY and full gene NIFTY kits were applied to detect free DNA (cfDNA) isolated from peripheral blood sample of a pregnancy woman. Amniocentesis was carried out for the woman for an abnormal NIPT result. G-banded karyotyping and single nucleotide polymorphism array (SNP array) were used to determine the karyotype and copy number variants in the fetus. The result was validated with a fluorescence in situ hybridization (FISH) assay. RESULTS: Both the standard NIFTY and full gene NIFTY indicated abnormal dup(chr12:707 334-33 308 759), for which the T score value of copy number anomaly in full gene NIFTY is 6.823, which is higher than the standard NIFTY's T-score value of 3.9535. The two NIFTY results were both above the normal threshold ± 3. Conventional G-banding analysis of amniocytes showed that the fetus has a karyotype of 47,XY,+mar. SNP-array delineated duplication of 12p (arr [hg19]12p13.33p11.1 (173 786_34 385 641)× 4, which was verified by FISH. Based on the above results, the fetus was diagnosed as a novel case of Pallister-Killian syndrome. CONCLUSION NIPT has a certain value for the prenatal detection of PKS. Combined use of multiple techniques can facilitate delineation of the source of sSMC.
Chromosome Disorders/genetics* ; Chromosomes, Human, Pair 12/genetics* ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Pregnancy

OBJECTIVE: To explore the genetic etiology of a neonate with suggestive features of Cornelia de Lange Syndrome (CdLS). METHODS: Chromosome karyotyping, copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) were carried out for the child. Meanwhile, peripheral venous blood samples were taken from his parents for verifying the suspected pathogenic variants detected in the child. RESULTS: The child has exhibited developmental delay, microcephaly, ptosis, micrognathia, and low ear setting, and was suspected as CdLS. No abnormality was found by karyotyping and CNV-seq analysis. WES has detected 5 heterogeneous variants and 1 hemizygous variant on the X chromosome. Combining the genetic pattern and result of family verification, a hemizygous C.3500T>C (p.ile1167thr) of the SMC1A gene was predicted to underlay the clinical manifestations of the patient. This variant was not recorded in the dbSNP and gnomAD database. PolyPhen2, Provean, SIFT all predicted the variant to be harmful, and PhastCons conservative prediction is was a conservative mutation. ACMG variant classification standard evidence supports are PM2, PP2, and PP3. CONCLUSION The novel c.3500T>C (p.Ile1167Thr) missense mutation of the SMC1A gene probably underlay the genetic etiology of CdLS in this child. Above results has enriched the mutation spectrum of CdLS type II, and facilitated clinical counseling for this family.
Cell Cycle Proteins/genetics* ; Child ; DNA Copy Number Variations ; De Lange Syndrome/genetics* ; Humans ; Infant, Newborn ; Mutation ; Phenotype ; Whole Exome Sequencing

Subretinal fibrosis(SRF),the end pathological stage of neovascular age-related macular degeneration(nAMD),can cause severe and irreversible vision loss in patients.In recent years,the high clinical incidence of SRF and the severe visual impairment it causes have led to a rapid development of SRF-related research.In order to systematically understand the clinical progress of SRF,recent studies on SRF secondary to nAMD were reviewed in this article.

Objective:To investigate the clinical features of 17q12 microdeletion cases before and after delivery, and provide a reference for prenatal diagnosis and genetic counseling.Methods:A retrospective analysis was conducted on five fetuses diagnosed with 17q12 microdeletion by single nucleotide polymorphism array in Quanzhou Women's and Children's Hospital between April 2020 and June 2023. Clinical data including prenatal ultrasonography findings, genetic causes, parental clinical features, and postnatal outcomes were summarized and analyzed using descriptive statistical analysis.Results:The five fetuses had normal results of karyotype analysis of amniotic fluid, but carried a microdeletion of 1.4 to 1.8 Mb in the 17q12 region of the chromosome, involving 20 genes listed in the Online Mendelian Inheritance in Man database. Pedigree verification was performed on all five cases and the results indicated one maternally inherited case with the mother having polycystic kidneys complicated by left hydronephrosis, one de novo case, and three paternally inherited cases with one father having multiple cysts in both kidneys and two fathers showing no abnormalities. Multiple abnormalities were found in the five fetuses by prenatal ultrasonography, including enhanced renal parenchymal echogenicity in four cases and pyelectasis in one case. Two cases chose to terminate the pregnancies, while the other three continued the pregnancies to full term. Postnatal follow-ups showed that one case was normal in growth and development with no abnormalities by renal ultrasound; one case developed polycystic kidney; one case with normal renal ultrasound findings had a speech disorder and symptoms of suspected autism at the age of three. Conclusions:The main manifestation of 17q12 microdeletion is enhanced renal parenchymal echogenicity in the fetal stage and postnatal polycystic kidney. In prenatally diagnosed cases, pedigree verification is necessary as an objective and scientific genetic counseling is helpful in pregnancy decision-making.

Chronic hepatitis B (CHB) infections caused by the hepatitis B virus (HBV) continue to pose a significant global public health challenge. Currently, the approved treatments for CHB are limited to interferon and nucleos(t)ide analogs, both of which have their limitations, and achieving a complete cure remains an elusive goal. Therefore, the identification of new therapeutic targets and the development of novel antiviral strategies are of utmost importance. Natural products (NPs) constitute a class of substances known for their diverse chemical structures, wide-ranging biological activities, and low toxicity profiles. They have shown promise as potential candidates for combating various diseases, with a substantial number demonstrating anti-HBV properties. This comprehensive review focuses on the current applications of NPs in the fight against HBV and provides a summary of their antiviral mechanisms, considering their impact on the viral life cycle and host hepatocytes. By offering insights into the world of anti-HBV NPs, this review aims to furnish valuable information to support the future development of antiviral drugs.
Humans ; Hepatitis B virus ; Hepatitis B, Chronic/drug therapy* ; Antiviral Agents/therapeutic use* ; Biological Products/therapeutic use* ; Hepatocytes