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 hematoxylineosin ( 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 and β-catenin increased in each other group． Conclusion Isogenous micro-grafting technology combined with botulinum 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.