Seven drimane-type sesquiterpenoids from an earwig-associated Aspergillus sp / 中国天然药物

Drimane-type sesquiterpenoids are widely distributed in fungi. From the ethyl acetate extract of the earwig-derived Aspergillus sp. NF2396, seven new drimane-type sesquiterpenoids, named drimanenoids A-G (1-7), were isolated. Their structures were elucidated by diverse spectroscopic analysis including high-resolution ESI-MS, one- and two-dimensional NMR spectroscopy. Drimanenoids A-F (1-6) are new members of drimane-type sesquiterpenoid esterified with unsaturated fatty acid side chain at C-6. Drimanenoids C (3), D (4) and F (6) showed antibacterial activity against five types of bacteria with different inhibition diameters. Drimanenoid D (4) exhibited moderate cytotoxicity against human myelogenous leukemia cell line K562 with an IC50 value of 12.88 ± 0.11 μmol·L-1.

Pedigree analysis and prenatal diagnosis of intellectual disability caused by synonymous mutations of p.S434S in DLG3 gene / 中华围产医学杂志

Objective:To analyze the pathogenic gene and prenatal diagnosis of a family with intellectual disability.Methods:Out of this family consisting of 17 members in three generations, four males had intellectual disability. The proband's elder sister (Ⅱ-7) visited Henan Provincial People's Hospital in Oct 2019 for genetic counseling at 8 weeks of gestation. After informed consent was obtained, peripheral blood samples of the family members were collected. The whole exome sequencing was performed on the genome DNA of the proband (Ⅱ-9, male) and his parents to screen the candidate variants for phenotype co-segregated analysis by Sanger sequencing. The expression vectors were constructed by homologous recombination and the splicing experiments were performed in vitro. Reverse transcription polymerase chain reaction, Sanger sequencing, and TA clone sequencing were used to analyze the effect of candidate variants on splicing. After the pathogenic variant was determined the proband's elder sister underwent prenatal diagnosis (Ⅲ-7) using goldeneyeTM20A genotyping system and Sanger sequencing. Results:A hemizygous synonymous variant of c.1302G>A (p. S434S) in DLG3 gene was found in the proband by whole exome sequencing, which was carried by his mother (Ⅰ-1) and co-segregated with the phenotype in other family patients. In vitro splicing experiment showed that c.1302G>A variant led to abnormal splicing of 88.24% transcripts, which further resulted in the reading frame shift and protein function impairment. The mutation was not detected in the fetus (Ⅲ-7), who was born alive later and showed no abnormal mental or behavioral development at the age of one and a half year and is still being followed up. Conclusions:The synonymous mutation c.1302G>A in DLG3 gene was the etiopathogenesis of X-linked intellectual disability in this family.

Genetic analysis of a patient with late infantile metachromatic leukodystrophy / 中华医学遗传学杂志

OBJECTIVE@#To detect variants of ARSA gene in a child featuring late infantile metachromatic leukodystrophy (MLD).@*METHODS@#PCR and Sanger sequencing was carried out for the patient and her parents.@*RESULTS@#The patient had typical features of MLD including ARSA deficiency, regression of walking ability, and demyelination. Compound heterozygous variants of the ARSA gene, namely c.960G>A and c.244C>T, were detected in the patient, for which her mother and father were respectively heterozygous carriers. ARSA c.960G>A was known to be pathogenic, while ARSA c.244C>T was a novel variant. The same variants were not detected among 50 healthy controls.@*CONCLUSION@#The compound heterozygous variants c.960G>A and c.244C>T of the ARSA gene probably underlie the MLD in this patient.

AIDS knowledge status and influencing factors of high-risk sexual behavior among male college students in Nanjing / 中国学校卫生

Objective@#To understand the AIDS knowledge of male college students who have sex experience and the influencing factors of high-risk sexual behaviors, so as to provide a basis for AIDS prevention and control on campus.@*Methods@#A total of 5 718 male college students who have sex from 18 colleges and universities in Nanjing were investigated by stratified random cluster sampling method from April to June in 2019. Their AIDS knowledge and high-risk sexual behaviors were investigated and risk factors were analyzed.@*Results@#Male college students had poor AIDS related knowledge and the incidence of high-risk sexual behaviors was 61.5%. Logistic regression analysis showed that the proportion of male college students with sexual orientation of bisexuality(OR=1.61), uncertainty (OR=2.41) and heterosexuality (OR=1.47) who had high-risk sexual behaviors were higher than those of homosexuals. The age of first sexual intercourse ≤14 years old(OR=2.71), 15 to 17 years old(OR=1.87), and 18 to 20 years old (OR=1.35) had a higher proportion of high-risk sexual intercourse than the age of first sexual intercourse of older than 20 years old. In the past year, the proportion of commercial sex(OR=1.80), drug use(OR=4.28), sexually transmitted disease (OR=3.34) diagnosed in the most recent year who had high-risk sexual behaviors were higher. In the pust year, the proportion of stable relationship and cohabitation(OR=0.25), those who had received AIDS prevention propaganda in the most recent year(OR=0.81), and those who knew about AIDS (OR=0.65) were less likely to engage in high-risk sexual behaviors.@*Conclusion@#The knowledge rate of HIV/AIDS was low and the incidence of high-risk sexual behavior was high among male college students. Therefore, colleges are encouraged to, actively carry out AIDS prevention and control work, improve the awareness of both HIV/AIDS knowledge and safe sex basics.

A novel compound heterozygous mutation of GNPTAB gene underlying a case with mucolipidosis type II α/β / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical features and genetic mutations in a patient with mucolipidosis type II α/β by using next generation sequencing.@*METHODS@#Clinical data of the patient was collected. Genomic DNA of the patient and her parents was extracted by a standard method. The patient was subjected to targeted sequencing using an Ion Ampliseq panel, which included genes related to mucolipidosis and mucopolysaccharidosis. Suspected mutations were verified by Sanger sequencing.@*RESULTS@#Compound heterozygous mutations, namely c.1284+1G>T and c.1090C>T (p.Arg364*), were detected in the patient, which were respectively inherited from her mother and father. No other disease-causing mutation was detected in the patient. GNPTAB c.1090C>T was known to be pathogenic, while GNPTAB c.1284+1G>T is a novel mutation. The same mutations were not detected among 50 healthy controls.@*CONCLUSION@#The compound heterozygous mutations c.1284+1G>T and c.1090C>T (p.Arg364*) of GNPTAB gene probably account for the mucolipidosis type II α/β in the patient. NGS has a great value for the molecular diagnosis and typing of mucolipidosis.