The diagnosis and treatment resources for rare diseases in China are highly imbalanced. The basic diagnosis and treatment capabilities are weak, the diagnosis period for patients is long, and the rates of missed diagnosis and misdiagnosis are relatively high. The establishment of a hierarchical diagnosis and treatment system is the inevitable approach to enhancing the diagnosis and treatment standards of rare diseases. Currently, the implementation of the domestic hierarchical diagnosis and treatment system for rare diseases still confronts numerous challenges, such as ambiguous referral standards and processes of primary medical institutions, and ineffective information interaction among institutions at all levels. Thus, it is essential to facilitate high-level information construction for the hierarchical diagnosis and treatment of rare diseases. This paper explores the process of constructing a multidisciplinary joint remote diagnosis and treatment platform and a health management platform through informatization, with the hope of establishing two closed loops of digital diagnosis and treatment services and health follow-up management for patients with rare diseases, as well as achieving timely diagnosis and lifelong health management for patients. It integrates and optimizes auxiliary diagnostic tools, promotes the rapid dissemination of rare disease diagnosis and treatment experiences to the grassroots, enhances the information construction level of the hierarchical diagnosis and treatment system, and endeavors to address the practical predicament of weak diagnosis and treatment capabilities of rare diseases in grassroots medical institutions. Additionally, this paper proposes an essential approach for multi-dimensional independent innovation to guide the popularization of efficient and high-quality rare disease diagnosis and treatment services. By encompassing innovating the rare disease diagnosis and treatment collaboration network and multidisciplinary diagnosis and treatment model, facilitating the application of the latest biomedical and informatics technologies to the grassroots, and constructing a national intelligent data platform for rare disease innovation, a new model for rare disease services with Chinese characteristics will be established. This will significantly enhance the medical treatment level of rare diseases in China and strive for more benefits for patients.

Astrocytes(AS)are the most abundant glial cells in the central nervous system and are involved in many physiological and pathological processes in the nervous system.Alterations in their phenotype are particularly important for the health of the CNS.Epigenetic mechanisms,including DNA methylation,histone modification,non-coding RNA regulation,and chromatin remodeling,are closely linked to alterations in AS proliferation,differentiation,inflammation,and other phenotypic features,but how these mechanisms function needs to be explored and summarized.By reviewing the recent advances in the role of epigenetic mechanisms in AS under various physiological and pathological states,we aim to provide new ideas for the understanding and treatment of related diseases.

Objective:We aimed to investigate the clinical efficacy of neoadjuvant chemotherapy combined with cytoreductive surgery and intraperitoneal hyperthermic chemoperfusion (IHCP) after the operation of patients with advanced ovarian cancer. Meth-ods:Analysis of 60 patients with advanced ovarian cancer was performed at the Zhengzhou People's Hospital from April 2009 to July 2012. The patients were divided into two groups, namely, the research and control groups. The research group was treated with neoadju-vant chemotherapy combined with cytoreductive surgery and IHCP twice (cisplatin at 80 mg), and subsequently, with chemotherapy (TC/TP). The control group underwent primary cytoreductive surgery and chemotherapy (TC/TP). We compared the differences be-tween the two groups in terms of the following parameters:operation time, bleeding volume, volume of ascites, and postoperative che-motherapy. Results:The treatments in the research group were more efficient than those performed on the control group in terms of all the intraoperative indicators, and the difference between the two groups was statistically significant (P<0.05). Conclusion:Compared with conventional methods, the neoadjuvant chemotherapy combined with cytoreductive surgery and IHCP after operation was more ef-fective for patients with advanced ovarian cancer. Thus, neoadjuvant chemotherapy combined with cytoreductive surgery and IHCP af-ter operation can be applied in clinical settings.

ObjectiveTo study the effects of different priming dose of muscle relaxant at the onset and endotracheal intubation conditions.Methods120 ASA Ⅰ～Ⅱ grade patients were randomly divided into 6 groups (n=6),vecuronium group (V 1,V2,V3) and cis-atrscurium group (C1,C2,C3).All patients were induced with propofol plasma (TCI)3 μg/ml,fentanil3 μg/kg.The V1 and C1 group were not given priming dose,and the V2,V3,C2,C3 groups were given priming dose of 10 μg/kg,20 μg/kg vecuronium and 15 μg/kg,30 μg/kg cis-atracurium.Intubating conditions were evaluated,and the onset time was monitored with train-of-four (TOF) technique.ResultsIntubating conditions were excellent in all patients.The onset time of priming groups of the four different doses was significantly shorter than that of the nonpriming group [(80.5±7.2) vs (146±10.7);(79.8±6.5) vs (146±10.7);(138.5±7.2) vs (218±10.7) ; (127.1±6.5) vs (218±10.7),P ＜ 0.05 ].ConclusionsThe taking-effect time of priming dose of muscle relaxant was significantly shorter than that of the nonpriming dose group.Increasing the priming dose not decrease onset time more than the smaller dose.

Epidermal growth factor receptor (EGFR) is found to express at high levels in a variety of　solid tumors including gliomas.This study was to examine the effect of an EGFR-tyrosine kinase inhibitor (AG1478) alone or in combination with cisplatin (CDDP) on the growth of glioma cells (U87).U87 glioma cells were treated with AG1478 (10 μmol/L) or CDDP (25 μmol/L) as a single agent or in　combination for 24 or 48 h.The expression of EGFR and the components in its downstream signaling　pathway [extracellular signal-regulated kinase (ERK),protein kinase B (AKT)] in U87 glioma cells was　detected by Western blotting.Cell growth,cell cycle distribution and cell apoptosis were determined by　MTT method and flow cytometry,respectively.The results showed that CDDP could induce the activation of EGFR and the components in its downstream signaling pathways in a concentration-dependent　manner.The combined treatment of AG 1478 with CDDP could inhibit the proliferation of U87 glioma　cells,arrest the cell cycle and promote cell apoptosis.In the EGFR signaling pathway,AG1478 decreased the phosphorylation of ERK,AKT and EGFR in U87 glioma cells.It was concluded that the　combined treatment of AG1478 and CDDP may exert synergistic inhibitory effects on the growth of　glioma cells by suppressing the activities of EGFR,AKT and ERK.

ObjectiveTo investigate the changes of serum concentration of parathyroid hormone (PTH) and calcium after thyroid surgery and compare the changes among different modes of operation. MethodsFrom Aug. 2006 to Dec. 2009, 470 patients accepted thyroid surgery. The serum concentration of PTH and calcium in different groups was measured and compared before and 1 day after surgery. According to the extent and similarity of the surgery, patients were classified into 7 groups and they were compared in terms of postoperative changes of PTH and serum calcium. Statistical analysis was performed. ResultsThe serum concentration of PTH and calciurn decreased significantly after surgery in all patients except for those receiving unilateral and bilateral partial thyroidectomy. Compared with unilateral lobectomy, surgeries such as bilateral subtotal thyroidectomy, unilateral thyroidectomy with contralateral subtotal thyroidectomy, bilateral near-total thyroidectomy and total thyroidectomy resulted in more dramatic decreases of serum concentration of PTH and calcium and higher incidence of hypocalcemia ( P ＜ 0.05 ). The comparison between patients receiving CLND or not had the same result. Conclusions Almost all kinds of thyroid surgery affect the parathyroid function. The wider the surgery, the higher the possibility of postoperative hypoparathyroidism. The indications and criteria of different types of thyroid surgery are essential for hypoparathyroidism prevention. In some cases, vitamin D and calcium are recommended for preventive purpose.

Epidermal growth factor receptor (EGFR) is found to express at high levels in a variety of solid tumors including gliomas. This study was to examine the effect of an EGFR-tyrosine kinase inhibitor (AG1478) alone or in combination with cisplatin (CDDP) on the growth of glioma cells (U87). U87 glioma cells were treated with AG1478 (10 μmol/L) or CDDP (25 μmol/L) as a single agent or in combination for 24 or 48 h. The expression of EGFR and the components in its downstream signaling pathway [extracellular signal-regulated kinase (ERK), protein kinase B (AKT)] in U87 glioma cells was detected by Western blotting. Cell growth, cell cycle distribution and cell apoptosis were determined by MTT method and flow cytometry, respectively. The results showed that CDDP could induce the activation of EGFR and the components in its downstream signaling pathways in a concentration-dependent manner. The combined treatment of AG1478 with CDDP could inhibit the proliferation of U87 glioma cells, arrest the cell cycle and promote cell apoptosis. In the EGFR signaling pathway, AG1478 decreased the phosphorylation of ERK, AKT and EGFR in U87 glioma cells. It was concluded that the combined treatment of AG1478 and CDDP may exert synergistic inhibitory effects on the growth of glioma cells by suppressing the activities of EGFR, AKT and ERK.

Objective To explore the pattern of cervical nodal metastasis and the clinical significance of total thyroidectomy plus functional neck lymphadenectomy in papillary thyroid carcinoma patients. Methods Clinical and pathological data of 172 patients with papillary thyroid cancer who underwent total thyroidectomy plus functional neck lymph node dissection at Jinan Military General Hospital were retrospectively reviewed, including patient demographics, extent of surgery, parathyroid hormone level,recurrence, tumor pathology, such as tumor size, multifocality, capsular invasion, vascular invasion,extrathyroidal extension, and lymph node status. Results Of the 172 functional neck dissection patients (47 ambilateral), the incidence of lymphonodus metastasis in regions Ⅵ, Ⅳ and Ⅲ was 96. 3% ,78. 5%and 62.1% respectively. Rate of nodal metastasis was higher in patients with extracapsular invasion than in patients with no invasion ( P ＜ 0. 05 ). Serum parathyroid hormone levels significantly decreased immediately postoperatively in total thyroidectomy plus functional neck dissection and remained low for several weeks thereafter ( P ＜ 0. 01 ). The 5-, 10- and 15-year survival rate was ( 98. 83 ± 0. 82) %, (98. 23 ± 1.02 ) % and (96. 42 ± 1.43 )%, respectively. Conclusions Therapeutic neck lymph node dissection for papillary thyroid cancer is recommended for cervical nodal metastasis patients. Total thyroidectomy plus functional neck dissection is important in the treatment of papillary thyroid cancer.

Objective To compare HER-2 state in breast cancer tissue deteced by fluorescent in situ hybridization (FISH) and immunohistochemistry (IHC) and analyze their correlation. Methods HER-2/neu protein expression and gene amplification were detected by FISH and IHC in 56 newly-diagnosed cases of female breast cancer from July 2008 to July 2009. Results Of the 56 patients, HER-2 protein expression (-), (+), (++), (+++) was 9 cases (16.1%), 29 cases (51.8%), 11 cases (19.6%) and 7cases (12.5%) respectively; 26 cases (46.4%) had HER-2 gene amplification while 30 cases (53.6%) didnt have. Type of HER-2 gene amplification was mainly HER-2(++) and HER-2(+++), and according gene amplification rate was 72 7% and 100%. HER-2 (+) gene amplification rate was 37.9 %(11cases) and no gene amplification was found in HER-2(-) tissue. The HER-2 positive rate using two methods had significant difference(χ2=19.778,P<0.01). HER-2(-) and HER-2(+++) had good consistency with the FISH results(Kappa=0.969),but HER-2(+) and HER-2(+ +) were poorly consistent with the FISH results(Kappa=0.271). Conclusions IHC is the preliminary screening method for detection of HER-2 expression. HER-2(-) and HER-2(+++) have good consistency with the gene amplification, and can guide clinical treatment. Some patients with HER-2(+) and HER-2(++) have HER-2 gene amplification. FISH is needed for targeted therapy.

Objective: To investigate the expressions of Fas, FasL in papillary adenocarcinoma of thyroid gland tissues and their tumor infiltrating lymphocytes(TIL), and its relationship with apoptosis and Fas, FasL in thyroid tumors.Methods: We detected the apoptotic rate and the expression of apoptotic related gene Fas in 43 cases of papliiary adenocarcinoma of thyroid gland with flow cytometry. The expression Fas and FasL were measured in 43 cases of papillary adenocarcinoma of thyroid gland, 28 cases of thyroid adenoma,43 paplillary adenocarcinoma of thyroid gland TIL,17 thyroid adenoma TIL using flow cytometry.Results: 19 cases in papillary adenocarcinoma showed low expression of Fas protein with an average apoptotic rate of 3.71% and 24 cases had high expression of Fas with an apoptotic rate of 7 26%(P