Different from the common doctor-led narrative, a kind of medical narrative is emerging, which takes the patient’s self-reported disease story as the subject, invites doctors to interact and comment, and then is completed by doctors and patients together. It spreads on the new media platform, and has important health communication value and medical humanistic significance. This paper takes the practice of Huashan Hospital Affiliated to Fudan University wachat as an example to discuss the value of doctor-patient common narrative. Such practices and their dissemination not only calls for equal dialogue between doctors and patients, but also helps to establish effective intersubjectivity and ultimately help to achieve real health practice in the public sphere in the social field.

OBJECTIVETo explore the genetic etiology for 11 sporadic patients with neurofibromatosis type 1.

METHODSChip targeting capture and high-throughput sequencing were employed to detect potential mutations of NF1 and NF2 genes among the 11 patients. The data was filtered through multiple mutational databases and in-house whole exome sequence database. Sanger sequencing was used for analysis of family members of the patients.

RESULTSEleven pathogenic variants were found among the 11 patients, which included two splicing mutations, one missense mutation, two nonsense mutations, and six frame-shifting mutations. None of the mutations was recorded by the public database or the in-house database generated from 1775 samples through whole exome sequencing. None of the unaffected parents carried the same mutation. Seven mutations were associated with neurofibromatosis type 1 previously, while the remaining four were discovered for the first time. Prenatal diagnosis of two high-risk pregnancies suggested that neither fetus has inherited the NF1 mutation from their affected parents.

CONCLUSIONIdentification of causative mutations in patients with sporadic-type neurofibromatosis type 1 has provided a basis for genetic counseling. The four novel mutations have enriched the spectrum of NF1 gene mutations.

ObjectiveTo investigate the effect of IκB kinase (IKK-β) on migration and proliferation of bone marrow mesenchymal stem cells(BMSCs) from patients with systemic lupus erythematosus (SLE).MethodsHuman bone marrow aspirates were collected from iliac of six donors and six SLE patients and cultured in vitro.Migration of BMSCs were observed by wound healing and transwell migration assays.Proliferation of BMSCs was quantified by cell counting kit-8 assay.Total RNA was extracted and reverse transcribed into complementary DNA.Real-time PCR technique was used to determine the gene expression of IKK-β at transcription level.The expression of IKK-β and phospho-IKK-β(p-IKK-β) protein were determined by Western blotting analysis.Statistical analysis was conducted with or Mann-Whitney rank test.Results① The migration rate of BMSCs from SLE patients(5.2±3.8)‰ were significantly reduced as compared with normal controls (7.0±2.9)‰(P＜0.05 ).The proliferation of BMSCs of SLE patients (0.21±0.49)was lower than that from healthy controls ( 1.00±0.35 )(P＜0.05 ).②) No difference in IKK-β3 mRNA expression between SLE ( 1.9± 1.4) subjects and normal controls (1.9±2.4) (P＞0.05).IKK-β protein expression of BMSCs from SLE patients (1.41 ±0.19) increased significantly compared with healthy controls (0.93±1.24) (P＜0.05).③ Inhibitor of IKK-β caused a significant increase in cell migration (3.3±1.6)‰ and proliferation (1.13±0.26) of BMSCs from SLE patients compared with untreated cells (2.3±1.1)‰ and (0.81±0.17),respectively (P＜0.05).ConclusionMigration and proliferation of BMSCs are significantly decreased in SLE patients.IKK-β may be involved in migration and proliferation of BMSCs.

Objective To explore the role of intracellular reactive oxygen species (ROS) in the senescence of bone marrow mesenchymal stem cells(BMSCs)in patients with systemic lupus erythematosus(SLE) and the underlying mechanisms that controls the intracellular ROS levels in vitro. Methods Human bone marrow aspirates were collected from iliac of eight donors and eight SLE patients and cultured in vitro.Morphological appearance of BMSCs at different passages was examined by inverted microscope. Nuclear size was measured by fluorescence microscope. BMSCs were monitored using the senescence associated β-galacto-sidase (SAβ-gal) assay to characterize senescence in vitro. The quantification of intracellular ROS production was detected by flow cytometry. Real-time PCR technique was used to determine the gene expressions of PI3K, KRas, NRas and FoxO3 at transcription level. The expression of FoxO3, phospho-FoxO3 (p-FoxO3),AKT and phospho-AKT (p-AKT) protein were determined by Western blot analysis. Statistical analysis was conducted with t-test and Mann-Whitney rank test.Results There were no differences in morphology and nuclear size[(31.4±4.5) vs (28.2±4.8) μm, P=0.628] of BMSCs between SLE patients and normal controls.The percentage of SA β-gal positive BMSCs from SLE patients was higher than that from healthy controls [(31.8±9.0)% vs (12.4±0.7)%, P＜0.05]. Intracellular ROS levels of BMSCs from SLE patients increased more significantly than healthy donors in vitro (34600±9600 vs 17 958±5400, P＜0.05). No significant differences in the expression of PI3K, NRas, KRas and FoxO3 from SLE subjects were observed at mRNA levels compared with normal controls, though all showed a similar upward trend. The expression of p-FoxO3 and p-AKT of BMSCs from SLE patients increased significantly compared with healthy controls at protein levels.Conclusion These data suggest that BMSCs from SLE patients aged more quickly, with high SA β-gal activity and up-regulation of intracellular ROS, which is associated with up-regulation of p-FoxO3 and pAKT at protein levels. These results indicate that bone marrow mesenchymal cell senescence may be associated with the pathogcnesis of SLE by maintaining the lifespan of BMSCs.

Objective To investigate the regulatory effects of umbilical cord-derived mesenchymal stem cells (UC -MSCs) on Th17 cells and related cytokines in patients with systemic lupus erythematosus (SLE). Methods Human UC-MSCs were isolated and expanded and infused into fourteen SLE patients. Clinical changes were evaluated before and after transplantation by SLE disease activity index (SLEDAI), 24-hour urine protein, serum albumin and complement C3. The percentages of CD3 +CD8-IL17A + T cells in peripheral blood were detected by flow cytometry. Concentrations of plasma IL-6, TGF-β, IL-17A, IL-22were determined by enzyme-linked immunosorbent assay (ELISA). UC-MSCs and peripheral blood mononindependent samples t-test. Results SLEDAI scores decreased significantly at 3 month (7.8±1.2, t=2.19) and 6 month (6.9±0.9, t=4.2) after UC-MSCs transplantation than pre-transplantation level (10.4±0.9, P< 0.05). Twenty-four-hour proteinuria decreased significantly 6 months after MSCs infusion [(1489±260) mg vs (2454±322) mg, t=2.6, P<0.05]. Meanwhile, serum albumin and complement C3 levels had increased significantly since 1 month after transplantation (P<0.05). The percentages of peripheral blood CD3+CD8-IL17A+T cells decreased obviously in 1 week, 1 month and 6 months after UC-MSCs transplantation (all P<0.05). The coculture of UC-MSCs with PBMC from SLE patients resulted in a statistically significant reduction of CD3+CD8-IL17A+T cells percentage in PBMC (P<0.05), but was not in a dose dependent manner. No change of plasma IL+6, TGF-β, IL-17A and IL-22 levels was observed after UC-MSCs transplantation (P>0.05).Conclusion UC-MSCs transplantation down-regulates the percentages of CD3+CD8-IL17A+T cells in SLE patients, which may be one of the mechanisms for its therapeutic effect in refractory SLE.

Objective To investigate the apoptosis of bone marrow mesenchymal stem cells(BMSCs)from systemic lupus erythematosus(SLE)patients and the expression of apoptotic molecules.Methods BMSCs were isolated from bone marrow of SLE patients and normal controls by density eentrifugation and adhesive culture in vitro.The apoptosis of BMSCs were evaluated by TUNEL assay.The expressions of Fas.Bcl-2 and the activity of Caspase 8 were detected by flow cytometry.Real-time PCR technique was used to determine the gene expressions of Fas,Bcl-2,Bax,Bcl-w,Caspase 8 and Apaf-1.Meanwhile,cytochrome C was detected by immunocytochemistry.Statistical analysis was conducted with t-test and Mann-Whitney rank test.Results The percentage of apoptotic BMSCs increased in SLE patients compared with healthy donors[(64±10)%vs [14±9)%,U=0,P<0.05 ].The expression of Bcl-2 in BMSCs of SLE patients was lower than the normal controls at protein leve[(11±9)%vs(56±18)%,U=0,P<0.05 ],and mRNA level(0.2±0.2vs 2.4±0.7,U=24,P<0.05).More cytochrome C positive pellets in the cytosolic fraction could be detected in BMSCs from SLE patients compared with healthy controls [(56±21)%vs (16±16)%,U=1,P<0.05].The activity of Caspase 8 was enhanced[(49±14)%vs(16±12)%,U=0.P<0.05 ],although with no significant difierence at mRNA Ievel.Both groups expressed Fas but with no significant difference (U=19,P>0.05).Conclusion BMSCs from SLE patients undergo more apoptosis,the mechanisms may be associated with the down regulation of Bcl-2,up-regulation of Cytoehrome C in cytoplasm and the activation of Caspase 8,which directs the intrinsic and extrinsic apoptosis pathways.

The present study retrospectively analyzed 13 patients with fibrous dysplasia of the adult proximal femur who received treatment at the Department of Orthopedics,Shenzhen Hospital,Peking University between March 2000 and June 2006.These patients comprised 6 males and 7 females,with an age of 21-35 years.Among 11 patients suffering from mild hip pain,6 presented with mild limping due to worsened pains,and 2 exhibited obvious manifestations of bone fracture.All patients underwent X-ray,CT examinations,and 3 were subjected to MRI examinations,prior to bone grafting and internal fixation.Monostotic lesion was observed in 10 patients and polystotic lesion in 3 patients,but endocrine disturbance was not observed in any patient.Nine patients suffered from lesions in the femoral neck and 4 from lesions in the femoral rotator.Curettage,autogenous and allogeneic bone grafting,and internal fixation with dynamic hip screws and proximal femoral nails were successfully performed in each patient.Internal fixation time averaged 165 minutes (range 120-210 minutes).During the early stage after surgery,weight-bearing activities were not permitted.Bone fracture healed after an average of 3 months.Eighteen to forty-eight months of follow-up demonstrated that clinical symptoms were relieved,with good hip joint function and basically normal gait.X-ray plains showed thickened cortical bone,as well as compacted ossification shadow in bone grafting region.In addition,partial bone absorption,but not recurrent clinically,was observed in 4 patients.These findings imply that thorough curettage,autogenous and allogeneic bone grafting,and internal fixation with dynamic hip screws and proximal femoral nails is a reliable method to treat fibrous dysplasia of the adult proximal femur and it can acquire satisfactory curative effects.

Objective The sirolimus-eluting stent (SES) has dramatically reduced the rate ofrestenosis in comparison to that with the bare-metal stent (BMS).This study aimed to evaluate the short-term efficacy and safety of Firebird stent implantation for patients with coronary heart disease (CHD). Methods From Apri12006 through July 2007, 155 patients (mean age 58.93～10.27 years) with CHD were implanted with Firebird stent or Cypher select stent at Daxing Hospital. Patients were followed up for one year. All-cause mortality, major adverse cardiac events (MACE, including cardiac death, myocardial infarction, recurrence of angina pectoris, heart failure, revascularization, and adverse arrhythmia) and stent thrombosis were compared between the 2 groups. Results Of the 155 consecutive patients, 147 patients were revascularized completely. Of these patients, 48 (with 59 lesions) were treated with Firebird stent, 59 patients (with 75 lesions) with Cypher select stent. The demographic characteristics were similar in the 2 groups. All the angiographic and procedural results were not significantly different between the 2 groups. All-cause mortality, myocardial infarction, recurrence of angina pectoris, MACE and stent thrombosis were almost identical between the 2 groups before discharge, at 6 months and at one year .Conclusion The short-term efficacy and safety of Firebird stent are similar to that of the cypher select stent for the treatment of patients with CHD.

Objective To study the different therapeutic proportion of the patient populations undergone coronary angiography (CAG) in the era of development in multislice spiral computed tomography(MSCT).Methods Two hundred and fifty four consecutive patients(mean age 59.24±10.65),who underwent CAG at Daxing Hospital from February 2007 through October 2007,were enrolled,160 patients were male and 94 were female.By evaluating from the coronary angiogram,the patients were not diagnosed to have coronary heart disease(CHD) with less than 50% diameter stenosis of coronary artery;the patients to have CHD with more than or equal to 50% stenosis of coronary artery;the patients were performed the procedure of percutaneous coronary intervention(PCI) with more than or equal to 70% stenosis;the patients were proposed to have coronary aortic bypass graft(CABG) surgery with left main coronary artery lesions or diffuse triple coronary artery lesions.Results In the 254 consecutive patients,59 patients(23.2%) had not been diagnosed to have CHD;195(76.8%)to have CHD,of these patients with CHD,49 patients(19.3%)were not indicated for PCI (including the patients receiving follow-up coronary angiography after stenting),81(31.9%)had been performed the procedure of stent implantation,57(22.4%)proposed to have CABG,8(3.1%)the procedure of PCI had not been successful,or had not been performed because of patients opposing to this therapy.Conclusion Multislice spiral computed tomography can be applied as a non-invasive screening tool to exclude the presence of CHD,to increase the positive proportion of the populations with CHD in all patients receiving coronary angiograhpy,to avoid the use of CAG in a subset of patients.