17α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare cause of congenital adrenal hyperplasia.The patient predominantly presents with low-renin hypertension,hypokalemia,lack of secondary sexual development,and in women with primary amenorrhea,in male with pseudohermaphroditism.We herewith analyse the clinical features of a case of 17OHD diagnosed by gene sequencing.And the etiology,clinical manifestations,genetic features,diagnosis and treatment for 17OHD were reviewed.

Objective To compare genomic copy number variations (CNVs) among different subtypes of breast cancer and analyze specific CNVs in each subtype. Methods AIMS software was used for genotype breast cancer (BasL, Her2, LumA and LumB), and GISTIC2.0 software was used to analyze genome-wide CNVs in tumor tissues from TCGA. We collected and analyzed the information and samples of 324 cases of invasive breast cancer admitted to Jiangmen Central Hospital(JMCH). Fluorescence quantitative PCR was used to detect the CNV of ERBB2, TFDP1, MIR148B, CCND1, MDM2 and MIR139 genes in the tumor tissues, to verify TCGA analysis. Results 13q34 was specifically amplified and 12q13.13 was specifically deleted in BasL-type breast cancer. The 17q12 was specifically amplified in Her2 type. The 12q15 was specifically amplified and 11q13.4 was specifically deleted in LumB type, but LumA type had no specific amplification or deletion of chromosome region. The proportion of TFDP1 amplification or MIR148B deletion in BasL type were 57.8% (TCGA) and 71.4% (JMCH), which were significantly higher than other subtypes (P < 0.001). The proportion of ERBB2 amplification of Her2 type were 55.2% (TCGA) and 86.7% (JMCH), which were significantly higher than other subtypes (P < 0.001). The proportion of LumB type with CCND1 or MDM2 amplification or MIR139 deletion were 47.6% (TCGA) and 61.8% (JMCH), which were significantly higher than other subtypes (P < 0.05). Conclusion At the CNV level of breast cancer, Her2 type is characterized by the amplification of ERBB2, BasL type is characterized by the amplification of TFDP1 or the deletion of MIR148B, LumB type is characterized by the amplification of CCND1 or MDM2 or the deletion of MIR139, but LumA type lacks specific CNV characteristics.

Objective To standardize an expert consensus on pulmonary rehabilitation nursing of chronic respiratory diseases. Methods On the basis of literature review, 5 experts were interviewed and 19 experts were consulted to establish the primary and secondary themes. 10 nursing experts in this field were invited to conduct peer review on the draft consensus to modify and improve the consensus content. Results After expert consultations，14 first-level themes and 40 second-level themes were established. The value of Ca (judgment coefficient),Cs (familiarity coefficient) and Cr (authority coefficient) were 0.895,0.839 and 0.867 ,which indicated the expert consultation have high authority and credibility. The Kendall coefficients of first-round expert consultation were 0.121 and 0.151, and they were 0.205 and 0.149 in the second round (P<0.05).In the first-round expert consultation, the coefficients of variation of the first and second themes were 0.197 and 0.200,and in the second round ,they were 0.202 and 0.237. They were all less than 0.25 , indicating that the expert's judgment results were relatively consistent. Conclusion As this consensus was developed based on 19 clinical nursing professionals from across the country, it is scientific and authoritative. This consensus can not only benefit to clinical nursing practice, but also lay the foundation for the development of guideline, and it still needs further theoretical and empirical research verification.

Objective To explore the effects of isogenous micro-grafting(MG)technology and the combined use of botulinum toxin type A(BTX-A)on hair regeneration in mice.Methods Forty-five C57BL/6 mice were randomly divided into five groups:normal saline group(NS group),MG group(MB-0 group),MG+low-dose BTX-A group(MB-2 group),MG+medium dose BTX-A group(MB-10 group),MG+high-dose BTX-A group(MB-50 group).The growth of hair on the backs of the mice was observed after the administration of the drugs,and the hair follicles were evaluated by hematoxylin-eosin(HE)staining on the 7th,14th,and 21st days of the experiment,and the expression of vascular endothelial growth factor(VEGF)and β-catenin was evaluated by immunohisto-chemical staining on day 21.Results After treatment with micrograft and botulinum toxin type A,the skin darke-ning time was shortened(P＜0.05),and the coverage rate of new hair increased on the 14 th day(P＜0.05).Compared with the NS group,the number of hair follicles increased(P＜0.05)and the expression of VEGF andβ-catenin increased in each other group.Conclusion Isogenous micro-grafting technology combined with botuli-num toxin type A has a promotional effect on hair regeneration in mice,and the mechanism may be related to the promotion of vascular growth and activation of β-catenin signaling.

Objective To investigate the effects and mechanisms of oridonin(ORI)on human keloid-derived fi-broblasts(HKF).Methods The effects of ORI on the proliferation activity of HKF were assessed using the CCK-8 assay.The experiment was divided into control and experimental groups.Cell scratch and Transwell assays were conducted to evaluate the migration and invasion capabilities of HKF.Real-time quantitative PCR(RT-qPCR)and Western blot were used to examine the impact of ORI on the expression of extracellular matrix-related mRNA and fi-bronectin 1(FN1),α-smooth muscle actin(α-SMA),type Ⅰ collagen(COL Ⅰ),and COL Ⅲ in HKF.The ex-periment was also divided into control,model,and transforming growth factor(TGF)-β1+ORI groups.RT-qPCR and Western blot were utilized to determine the effects of ORI on the expression of TGF-β1-induced mRNA and nu-cleotide-binding oligomerization domain-like receptor protein 3(NLRP3),apoptosis-associated speck-like protein containing a CARD(ASC),Smad2,Smad3,phosphorylated Smad2(p-Smad2),and p-Smad3 in HKF.Results CCK-8 assay demonstrated that the cell inhibition rate of HKF progressively increased with increasing concentra-tions of ORI.Compared with the control group,the experimental group exhibited a significant reduction in the mi-gration area at 24 hours and a decrease in the number of invasive cells.Furthermore,there was a significant down-regulation in the expression levels of FN1,α-SMA,COL Ⅰ,and COL Ⅲ(P＜0.05).In comparison with the con-trol group,the model group showed a significant upregulation in the expression of NLRP3,ASC,Smad2,Smad3,p-Smad2,and p-Smad3(P＜0.05).Relative to the model group,the TGF-β1+ORI group demonstrated a signifi-cant downregulation in the expression of NLRP3,ASC,Smad2,Smad3,p-Smad2,and p-Smad3(P＜0.05).Conclusion ORI the proliferation,migration,and invasiveness of HKF,as well as the formation and deposition of the extracellular matrix,through the blockade of the TGF-β1/Smad signaling pathway and the NLRP3-mediated in-flammatory response.

AIM:To explore the expression and distribution of synaptic and extrasynaptic glutamate receptors under the action of amyloid β-protein 42 oligomers(Aβ42Os)in Alzheimer disease.METHODS:In vitro,primary neu-rons from neonatal mice were treated with different concentrations of Aβ42Os.In vivo,Aβ42Os were stereotaxically injected into the lateral ventricle of C57BL/6 mice.Western blot was used to detect the protein levels of metabotropic gultamate re-ceptor 5(mGluR5)and N-methyl-D-aspartate receptor(NMDAR)subunits(NR2A,NR2B and NR1)in mouse primary neurons and mice.Immunofluorescence staining was performed to observe the distribution of mGluR5 and NMDAR.Addi-tionally,Western blot was employed to examine the expression of mGluR5 downstream phosphatidylinositol 3-kinase(PI3K)/protein kinase B(PKB/AKT)signaling pathway-related proteins,calcium signaling pathway-related proteins and synapse-related proteins in mouse hippocampal tissues.RESULTS:(1)High concentrations of Aβ42Os increased mGluR5 expression in mouse primary neurons,but reduced the expression of NR2A,NR2B and NR1(P<0.01).Treatment of pri-mary neurons with high concentration of Aβ42Os resulted in aggregation of mGluR5 on the membrane surface,and re-duced the expression of NR2A,NR2B and NR1 on the membrane surface.(2)High concentration of Aβ42Os increased the expression of synaptic mGluR5 in mouse hippocampal tissues(P<0.01),but reduced the expression of synaptic NR2A(P<0.05)and NR2B(P<0.01)and increased the expression of extrasynaptic NR2B(P<0.01).High concentration of Aβ42Os inhibited the expression of PI3K and the phosphorylation of AKT and extracellular signal-regulated kinase(ERK),and overactivated calcium/calmodulin-dependent protein kinase IIα(CaMKIIα).High concentration of Aβ42 decreased the expression of postsynaptic density protein 95,spinophilin,synaptophysin and microtubule-associated protein 2(P<0.01).CONCLUSION:(1)High concentrations of Aβ42Os increase mGluR5 expression and decrease NR2A,NR2B and NR1 expression in synapse,along with an increase in extrasynaptic NR2B.(2)High concentrations of Aβ42Os inhibit the PI3K/AKT and ERK signaling pathways,overactivated the CaMKIIα pathway,and destroyed the synaptic structures.