Objective To investigate the clinical efficacy of moxibustion plus acupoint application of Chinese herbal medicine in preventing and treating gastrointestinal reactions during chemotherapy for breast cancer. Method One hundred patients with breast cancer of stomach deficiency cold type were randomly allocated to two groups. The treatment group received moxibustion plus acupoint application of Chinese herbal medicine based on conventional treatment of western medicine and the control group, conventional treatment of Western medicine. Result Comparison of nausea and vomiting incidences and severities from the beginning day of chemotherapy to three days after it and constipation incidences and severities during three days after chemotherapy between the two groups of patients showed that the results were better in the treatment group than in the control group;there were statistically significant differences between the two groups (P<0.05). Conclusion Moxibustion plus acupoint application of Chinese herbal medicine can effectively prevent and treat gastrointestinal reactions during chemotherapy for breast cancer. The method is convenient.

OBJECTIVE:To observe clinical efficacy and safety of tanshinone combined with limbal stem cells transplantation in the treatment of pterygium. METHODS:Totally 97 cases (118 eyes) of primary pterygium admitted into our hospital during Feb. 2010-Sept. 2014 were analyzed retrospectively,and divided into observation group (48 cases,57 eyes) and control group (49 cases,61 eyes). Both groups received autologous limbal stem cell transplantation. The control began to give Tobramycin and dexamethasone eye drops 1-2 drop 1 week before surgery,every 4-6 h one times. Observation group was given Tanshinone cap-sules 0.5 g,po,tid,one week before surgery,for 3 months. Repair time of corneal epithelium and local symptom regression time were compared between 2 groups. Corneal astigmatism and corrected visual acuity were observed in 2 groups before and 1,3 months after surgery. The occurrence of recurrence and ADR was analyzed statistically in 2 groups. RESULTS:The repairing time of corneal pithelial and local symptom regression time in observation group were significantly shorter than control group,with statis-tical significance (P<0.05). There was no statistical significance in corneal astigmatism and corrected visual acuity between 2 groups before and one month after surgery (P>0.05). 1,3 months after surgery,corneal astigmatism of 2 groups was decreased significantly and corrected visual acuity was increased significantly than before surgery,and 3 months after surgery the observation group was significantly better than the control group,with statistical significance (P<0.05). The recurrence rate of observation group was 3.51%,which was significantly lower than 14.75% of control group,with statistical significance(P<0.05). There was no statistical significance in the incidence of ADR between 2 groups(P>0.05). CONCLUSIONS:Tanshinone combined with autol-ogous limbal stem cell transplantation in the treatment of pterygium can shorten the time of corneal epithelial repair and local symp-toms,restore the visual function of patients and reduce recurrence rate with good safety.

Objective To determine the methylation level of P15INK4B gene promoter in different types of myelodysplastic syndromes (MDS) and its correlation with its prognosis.Methods Methylation frequency of the P15INK4B gene promoter in 44 cases of MDS were determined by methylation-specific polymerase chain reaction (PCR) and pyrosequencing,and its correlation with clinical classification and characteristics of MDS were statistically analyzed.Results Frequency of P15INK4B gene promoter methylation in myelodysplastic syndromes-refractory anemia with excess blasts Ⅱ (MDS-RAEB Ⅱ) patients was (46.89 ± 15.41) ％,significandy higher than that in other types of MDS (P ＜ 0.05),but no difference in promoter methylation frequency was detected among the other types of MDS (P ＞ 0.05) ; frequency of P15INK4B gene promoter methylation was found to be correlated with decline in platelet upon diagnosis (t =9.02,P ＜ 0.01),but showed no significant correlation with drop of hemoglobin or leukopenia (P ＞0.05).As for the correlation between P15INK4B gene promoter methylation and MDS risk stratification,no significant difference was detected between the low-risk and very low-risk groups (P ＞ 0.05),but significant differences were detected among the medium-risk,high-risk,and very high-risk groups (P ＜ 0.05).In addition,frequency of P15INK4B gene promoter methylation was (49.21 ± 8.78)％ in MDS patients that developed leukemia in the following two year,significantly higher than that in MDS patients who didn't (19.64 ± 6.24) ％ (P ＜ 0.05).Conclusions P15INK4B gene promoter methylation frequency is a valuable indicator of prognosis of MDS patients.

Hospice care is a health care involving end-of-life quality of millions of people. Compared with the growing demand for hospice services, the domestic service supply is seriously insufficient, making it urgent to explore the development path to meet the diversified health service needs of the public. Based on the analysis of the current situation of hospice development in the mainland and Taiwan of China, the " five-in-one" hospice development path consisting of top-level design, legislative protection, personnel training, social support, and publicity and education was proposed, which was expected to provide a basis for promoting the development of hospice practice in Chinese mainland. The aim is to provide a reference for promoting the development of hospice practice in Chinese mainland.

Marinesco-Sj?gren syndrome(MSS)is a rare autosomal recessive inherited disease charac-terized by cerebellar ataxia,early-onset cataracts,chronic myopathy,and intellectual disability and develop-mental delay at varied degrees.Some patients may manifest such symptoms as short stature,hypergonadotropic hypogonadism,various skeletal abnormalities resulted from the muscular weakness,and others.This article re-ports the clinical and molecular diagnosis process of two MSS cases with global developmental delay.We found the compound heterozygous variants c.109delG(p.Glu37Serfs*4)and c.353G＞C(p.Arg118Thr),c.443delA(p.Lys148Argfs*10)and c.707A＞G(p.Asn236Ser)by Trio-whole exome sequencing(Trio-WES)which are evaluated as pathogenic,and uncertain significant,pathogenic and likely pathogenic variants separately.We provided genetic consultation based on the molecular diagnosis and evaluated the risk for the offsprings in the families.By introducing the two cases and literature review,this article aims at improving the understanding of MSS and providing reference to the diagnosis of the disease.

The widespread application of next generation sequencing (NGS) in clinical settings has enabled testing, diagnosis, treatment and prevention of genetic diseases. However, many issues have arisen in the meanwhile. One of the most pressing issues is the lack of standards for reporting genetic test results across different service providers. The First Forum on Standards and Specifications for Clinical Genetic Testing was held to address the issue in Shenzhen, China, on October 28, 2017. Participants, including geneticists, clinicians, and representatives of genetic testing service providers, discussed problems of clinical genetic testing services across in China and shared opinions on principles, challenges, and standards for reporting clinical genetic test results. Here we summarize expert opinions presented at the seminar and report the consensus, which will serve as a basis for the development of standards and guidelines for reporting of clinical genetic testing results, in order to promote the standardization and regulation of genetic testing services in China.

OBJECTIVETo elucidate the impact of Hes1 on the proliferation and apoptosis of acute myeloid leukemia (AML) cells.

METHODSThe expression levels of Hes1 and p21 in AML patient samples and myeloid leukemia cell lines were analyzed by real-time PCR. Hes1 was up-regulated by retrovirus transfection in AML cell lines and the proliferation capacity were assayed by MTT, cell cycle by Hoechst/PY, apoptosis by AnnexinV.

RESULTSThe expression of Hes1 in primary AML cells and HL-60, U937, KG1a cell lines were 0.67 ± 0.24, 0.59 ± 0.43, 0.42 ± 0.03, and 0.32 ± 0.26, respectively, and p21 were 0.54 ± 0.01, 0.44 ± 0.12, 0.36 ± 0.12, and 0.59 ± 0.43, respectively. Hes1 expression levels after transduction in HL-60, U937, KG1a were 4.9 ± 0.2, 5.2 ± 0.4, 5.8 ± 0.5, respectively. Induced activation of Hes1 led to AML cells growth arrest and apoptosis, which was associated with an enhanced p21 expression. Besides, activated Hes1 led to AML cells growth inhibition in vivo.

CONCLUSIONHes1 could mediate growth arrest and apoptosis in AML cells, which may be a novel target for AML.

Apoptosis ; Basic Helix-Loop-Helix Transcription Factors ; Cell Cycle ; Cell Line, Tumor ; Homeodomain Proteins ; Humans ; Leukemia, Myeloid, Acute ; Transcription Factor HES-1 ; Up-Regulation

BACKGROUND: Ischemic acute kidney injury (AKI) is a common syndrome associated with considerable mortality and healthcare costs. Up to now, the underlying pathogenesis of ischemic AKI remains incompletely understood, and specific strategies for early diagnosis and treatment of ischemic AKI are still lacking. Here, this study aimed to define the transcriptomic landscape of AKI patients through single-cell RNA sequencing (scRNA-seq) analysis in kidneys. METHODS: In this study, scRNA-seq technology was applied to kidneys from two ischemic AKI patients, and three human public scRNA-seq datasets were collected as controls. Differentially expressed genes (DEGs) and cell clusters of kidneys were determined. Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis, as well as the ligand-receptor interaction between cells, were performed. We also validated several DEGs expression in kidneys from human ischemic AKI and ischemia/reperfusion (I/R) injury induced AKI mice through immunohistochemistry staining. RESULTS: 15 distinct cell clusters were determined in kidney from subjects of ischemic AKI and control. The injured proximal tubules (PT) displayed a proapoptotic and proinflammatory phenotype. PT cells of ischemic AKI had up-regulation of novel pro-apoptotic genes including USP47 , RASSF4 , EBAG9 , IER3 , SASH1 , SEPTIN7 , and NUB1 , which have not been reported in ischemic AKI previously. Several hub genes were validated in kidneys from human AKI and renal I/R injury mice, respectively. Furthermore, PT highly expressed DEGs enriched in endoplasmic reticulum stress, autophagy, and retinoic acid-inducible gene I (RIG-I) signaling. DEGs overexpressed in other tubular cells were primarily enriched in nucleotide-binding and oligomerization domain (NOD)-like receptor signaling, estrogen signaling, interleukin (IL)-12 signaling, and IL-17 signaling. Overexpressed genes in kidney-resident immune cells including macrophages, natural killer T (NKT) cells, monocytes, and dendritic cells were associated with leukocyte activation, chemotaxis, cell adhesion, and complement activation. In addition, the ligand-receptor interactions analysis revealed prominent communications between macrophages and monocytes with other cells in the process of ischemic AKI. CONCLUSION Together, this study reveals distinct cell-specific transcriptomic atlas of kidney in ischemic AKI patients, altered signaling pathways, and potential cell-cell crosstalk in the development of AKI. These data reveal new insights into the pathogenesis and potential therapeutic strategies in ischemic AKI.
Humans ; Mice ; Animals ; Transcriptome/genetics* ; Ligands ; Kidney/metabolism* ; Acute Kidney Injury/metabolism* ; Ischemia/metabolism* ; Reperfusion Injury/metabolism* ; Sequence Analysis, RNA ; Adaptor Proteins, Signal Transducing/metabolism* ; Tumor Suppressor Proteins/metabolism*

Objective: To explore the molecular basisfor a child featuring short stature, abnormal facial features and developmental delay. Methods: Genomic DNA was extracted from peripheral blood samples from the child and his family members. Next-generation sequencing was carried out to screen the whole exomes of the core family. Detected variants were filtered and analyzed according to the standards and guidelines for the interpretation of sequence variants recommended by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Results: Trio-based sequencing has identified a de novo variant c. 3593T>G (p.Val1198Gly) in the SMARCA2gene in the patient. The variant was located in the Helicase C-terminal domain and was classified as pathogenic based on the guidelines. Conclusion The patient was diagnosed with Nicolaides-Baraitser syndrome caused by SMARCA2 gene mutation.