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Objective To construct a model of Fat-1/APPPS1 transgenic mice and a cellular model of microglia and explore the improvement effect and underlying mechanism of n-3 polyunsaturated fatty acids (n-3 PUFAs) on the learning and memory abilities of APPPS1 mice by regulating microglial activation and polarization. Methods After the male mice with heterozygous Fat-1 genotype were mated with the female ones with heterozygous APPPS1 genotype, genetic identification was used to screen the male offspring with Fat-1/APPPS1 genotype. Then after the male wild-type (WT) mice and those with Fat-1, Fat-1/APPPS1, and APPPS1 genotypes were bred until 9 months old, their learning and memory abilities were evaluated with Morris water maze (MWM) test. In addition, gas chromatography-mass spectrometry (GC-MS) was performed to detect the concentration of PUFAs in the brain, and immunohistochemistry (IHC) was applied to detect the deposition of β-amyloid protein (Aβ) in the hippocampal regions. Moreover, immunofluorescence assay, qRT-PCR, and enzyme-linked immunosorbent assays (ELISA) were conducted to measure inflammation, and transcription and expression of Iba-1 (indicating the microglial activation) and CD86 and CD206 (indicating microglial polarization) in central nervous system (CNS). After pretreated with DHA+EPA (25 μmol/mL ∶25 μmol/mL), microglial model of inflammatory injury was established in immortalized mouse BV2 cells induced by LPS (1 μg/mL). Afterwards, immunofluorescence assay, qRT-PCR and Western blotting were used to detect inflammation and microglial activation and polarization. Results Compared with the APPPS1 mice, endogenous n-3 PUFAs effectively improved the learning and memory disorders in Fat-1/APPPS1 ones (P < 0.05), remarkably alleviated Aβ deposition in the hippocampal regions (P < 0.05), evidently reduced CNS inflammation and microglial activation (P < 0.05) and transformed the activated microglia from M1 to M2 (P < 0.05). Furthermore, BV2 cells with DHA+EPA pretreatment obviously resisted LPS-induced cellular inflammation and induced activated ones from M1 to M2 (P < 0.05). Conclusion n-3 PUFAs inhibit the microglial activation, regulate the microglial polarization from M1 to M2, reduce CNS inflammation, and thus alleviate learning and memory disorders in APPPS1 mice.

This paper summarized the nursing management of resection for giant abdominal tumor in a patient with lipomatous tumor. Based on the nursing assessment and illness condition monitoring, comprehensive nursing interventions including pain control, nutrition support, health education and psychological care were carried out to relieve the patient’s negative emotion, prevention postoperative complications and improve the recovery. (本文总结1例非典型脂肪瘤样肿瘤患者行腹部巨大肿瘤切除术后的护理经验。患者入院后完善常规检查, 做好术前准备和术中配合, 术后加强病情观察, 针对性止痛, 给予营养支持, 开展健康教育和心理干预, 缓解患者负性情绪, 预防并发症, 促进患者早日康复。)

Objective: To determine the karyotype of a patient with mosaicism complex structural aberration of chromosome 18., Methods: A male patient with a 2-year history of infertility presented at the Center of Reproductive Medicine of the Third Hospital of Peking University in October 2019 was selected as the study subject. Clinical data of the patient was collected. Peripheral blood sample was taken for chromosomal karyotyping, copy number variation (CNV) analysis and fluorescence in situ hybridization (FISH) assay. Semen sample was taken for single sperm CNV analysis., Results: The patient was found to have a karyotype of mos 47,XY,del(18)(q21q23),+r(18)(q21q23)[84]/46,XY,del(18)(q21q23)[9]/48,XY,del(18)(q21q23),+r(18)(q21q23)×2[6]/47,XY,del(18)(q21q23),+r(18)(q21q23×2)[1].ish 47,XY,del(18)(q21q23),+r(18)(q21q23)[84]/46,XY,del(18)(q21q23)[9]/48,XY,del(18)(q21q23),+r(18)(q21q23)×2[6]/47,XY,del(18)(q21q23),+r(18)(q21q23×2)[1]del(18)(q21q23)(D18Z1+,18p+,18q+,WCP18+),r(18)(q21q23)(WCP18+),r(18)(q21q23×2)(WCP18+). No pathogenic CNV was identified. Sequencing of 20 single sperms showed that 1 sperm was normal, 1 had yielded no result, 9 had harbored del(18q), 7 had harbored dup(18q)×2, and 2 had harbored dup(18q)×3. The dup/del fragments had both spanned approximately 33 Mb., Conclusion: It is rare for carriers of complex structural and numerical abnormalities of chromosome 18 to have a normal phenotype. Based on the accurate cytogenetic and molecular analyses and the single sperm CNV analysis, the influence of the aberrant karyotype on the gametogenesis may be evaluated.

Objective: To explore the pathogenic variants and clinical classification of two fetuses with Short-rib thoracic dysplasia with or without polydactyly (SRTD)., Methods: With informed consent obtained, the phenotypic characteristics of the fetuses were comprehensively examined, and genomic DNA was extracted from fetal skin tissue and peripheral blood samples of the parents with conventional phenol-chloroform method. Whole exome sequencing (WES) was carried out on both fetuses, and the candidate variants were validated by Sanger sequencing. The pathogenicity of the candidate variants was analyzed using bioinformatic software VarCards, and the impact of the variants on the protein structure was predicted with Swiss-Pdb-viewer., Results: Both fetuses were found to harbor compound heterozygous variants of the DYNC2H1 gene, including c.515C>A (p.Pro172Gln) and c.5983G>A (p.Ala1995Thr) in fetus 1, and c.5920G>T (pGly1974) and c.9908T>C (p.He3303Thr) in fetus 2. The parents of both fetuses were heterozygous carriers., Conclusion: The compound heterozygous variants of the DYNC2H1 gene probably underlay the SRTD3 in the two fetuses.

Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron degenerative disease, which is the most common fatal neuromuscular disease in pediatrics with a high carrier frequency and can lead to progressive symmetrical muscle weakness and atrophy of the trunk and limbs. Preimplantation genetic testing (PGT) can be used to prevent the birth of children with SMA effectively. To standardize PGT technologies for SMA, experts from the fields of neurology, pediatrics and reproductive genetics have discussed and drafted this consensus for guiding its clinical application.