Objective To investigate the efficacy of autologous peripheral hematopoietic stem cell transplantation in the treatment of adult dermatomyositis. Methods A 21-year-old patient with dermatomyositis received autologous peripheral hematopoietic stem cell transplantation and was followed up for 6 years. Autologous peripheral hematopoietic stem cells were mobilized by recombinant human granulocyte colony stimulating factor (rhG-CSF) before the transplantation, and the conditioning regimens consisted of cyclophosphamide,methylprednisolone and cyclosporin. Rabbit anti-human T lymphocyte immunoglobulin began to be applied on day 3 after retransfer of stem cells. The improvement in symptoms, physical signs and biochemical indicators was observed, and hematopoietic restructuration and immunity resurrection were evaluated after the transplantation. Results After the transplantation, skin eruption greatly improved and gradually subsided. The muscle force of extremities restored from level Ⅳ before transplantation to level Ⅴ. The level of creatine kinase declined sharply after transplantation, but gradually returned to previous level. Leucocyte count began to decrease on the day of retransfer, and returned to the normal level on day 8. Immune function remained normal before and after the transplantation. Conclusion Autologous peripheral hematopoietic stem cell transplantation is an alternative treatment for severe and refractory dermatomyositis.

Objective To perform a DNA-based prenatal diagnosis in a family with recessive dys-trophic epidermolysis bullosa, and to develop a strategy to eliminate matemal cell contamination in arnniotic fluid samples. Methods Amniocentesis was carried out at gestation week 16, amniotic fluid culture was used to separate fetal cells from maternal blood cells. Peripheral blood was obtained from the proband, and her parents. Genomic DNA was extracted from peripheral blood and aminotic cells. Subsequently, PCR and direct sequencing were performed to detect pathogenic mutations in the COL7A1 gone. Karyotype analysis was used to confirm paternal information in amniotic fluid. Linkage analysis between micro-satellite markers was performed to confirm the fetal genotype. Resulta Centrifugation showed visible contamination of aminotic cells by blood cells. Direct sequencing revealed that the proband was a carrier of both maternal mutation, R525X in exon 12, and paternal mutation, R2610X in exon 105, while the fetus only carried the maternal mutation, R525X. The second direct sequencing and hapiotype analysis after elimination of mater-nal blood cells by amniotic fluid culture confirmed that the fetus was a carrier of maternal mutation with nor-real phenotype. The pregnancy continued and a clinically unaffected girl was born at gestation week 40.Conclusion The accuracy of DNA-based prenatal diagnosis could be improved by the combination of direct sequencing, amniotic fluid culture, karyotype analysis and linkage analysis, etc.

To report a case of 16-month-old boy with anhidrotic ectodermal dysplasia with immunodeficiency who experienced disseminated herpes simplex infection. From 2 months of age, the patient experienced multiple pyrexial episodes of undetermined origin, which responded well to anti-inflammatory agents after undressed. Abnormal sweat with dry skin was noted; therefore, the skin biopsy of right axilla was performed at 7 months of age, and suggested a diagnosis of anhidrotic ectodermal dysplasia. Since 6 months of age, he developed recurrent upper respiratory infections and 2 episodes of pneumonia. Twenty days before, several glossal erosions occurred in the patient, supervened by painful and erosive eruptions and numerous blisters around the mouth and both hands with hyperpyrexia. Four days before, the patient was transferred to the department owing to skin lesion exacerbation. Cutaneous examination showed multiple crested or ulcerated plaques distributed eriorificially (mouth and nasal cavity) on the face. Several irregular, demarcated ulcers were scattered on the buttocks, scrotum and lower limbs, surrounded by grouped and umbilicated vesicles arising on erythema. Both hands were swelling, crusting and painful. Dentition was abnormal, and the patient had only 2 upper conical incisors. Routine investigation revealed that white cell count and C-reactive protein extremely elevated. Immunologic profile showed an abnormal distribution of lymphocyte subsets with decreased CD3+ T cells, CD8+ T cells and NK cells. Serum IgM level was slightly low. IgM antibodies to herpes simplex virus type 1 (HSV-1) were detected by serological testing. Based on the above-mentioned features, a diagnosis of anhidrotic ectodermal dysplasia with immunodeficiency and disseminated herpes simplex infection was confirmed. The patient was resolved favourahly after intravenous ganciclovir and antibiotics for 3 weeks without relapse of skin lesions.

Objective:To investigate hemodynamic characteristics of the modified Blalock-Taussig shunt (MBTS) with the preservation or ligation of ductus arteriosus (DA) based on computational fluid dynamics (CFD), thus to help preoperative surgery design and postoperative prediction.Methods:A patient with pulmonary atresia and patent ductus arteriosus was included. Patient-specific three-dimensional model was reconstructed and virtual surgeries of shunt insertion and ductus ligation or preservation were performed via computer-aided design (CAD). CFD was utilized to analyze hemodynamic parameters preoperatively and postoperatively based on patient-specific anatomy and physiologic data.Results:The preservation of DA competitively reduced the shunt flow but increased total pulmonary perfusion. The shunt flow and ductal flow collided with each other, causing large and complicated turbulence in pulmonary artery where lower wall shear stress and higher oscillatory shear index were distributed, as well as higher energy loss.Conclusion:The preservation of DA is riskier in hemodynamics which may lead to pulmonary over-perfusion, inadequate systemic perfusion and heavier cardiac burden, thus increasing the risk of heart failure and it seems to bring no benefit in terms of reducing risks of thrombosis.

Objective To investigate the prevalence and progression process of atopic diseases in adolescents, and to assess their relationship with filaggrin(FLG)mutations. Methods Totally, 334 adolescents aged from 11 to 19 years in a middle school in shanghai were enrolled into this study. A clinical interview was carried out to determine the prevalence of atopic diseases (such as ichthyosis, atopic dermatitis (AD), asthma, rhinitis, etc)in these subjects. Peripheral blood samples were collected from 285 out of the 334 adolescents for screening for common FLG mutations, including 3321delA and K4671X. Five years later, these adolescents were followed up for reevaluation of clinical presentations of atopic diseases. Statistical analysis was carried out by the chi-square test with the SPSS 20.0 software. Results As the baseline survey showed, 19 (5.69%)of the 334 adolescents had AD, 14 (4.19%)had ichthyosis vulgaris, 36(10.78%)had allergic rhinitis, and 4(1.20%)had asthma. FLG mutations were observed in 24(8.42%) of the 285 adolescents. Five years later, 265 adoscents completed the follow-up, and 69 (20.66%)were lost to follow-up. Of the 265 adolescents reevaluated, 13(4.89%)had AD, 15(5.64%)had ichthyosis vulgaris, 27(10.15%)had allergic rhinitis, and 1 (0.38%)had asthma. By the time the second survey was performed, 6 out of the 19 patients initially diagnosed with AD had achieved complete regression, 13 had experienced a marked decrease in SCORing atopic dermatitis (SCORAD)score, and symptoms had disappeared in 9 of the 36 patients initially diagnosed with allergic rhinitis. The frequency of FLG mutations was 10.0%in patients with AD, 55.6%in those with ichthyosis, and 40.0%in those with both AD and ichthyosis, and the development of ichthyosis was associated with FLG mutations(P<0.001). Conclusions The frequency of common FLG mutations was 8.42%in these adolescents. FLG gene may be a semidominant gene associated with ichthyosis vulgaris, and multiple factors influence its expression.

Objective To investigate the different expressions of Ki-67 between diffuse large B cell lymphoma (DLBCL)and the reactive hyperplasia of lymphnode (RH),germinal center B cells (GCB)and non-GCB types,and to explore the clinical significance of Ki-67.Methods Samples from 60 DLBCL patients served as observation group,while the other 20 tissue samples from patients with lymphoid reactive hyperplasia as control group.The difference of Ki-67 expres-sions between GCB and non-GCB were compared and the relationships between Ki-67 expression and DLBCL,the international prognostic index (IPI),short-term efficacy and prognosis were analyzed. Results The average expression rate of Ki-67 was (69.17±14.73)%and (40.50±14.95)% in observation and control groups respectively ,and the difference was significant (t= 7 .5 0 9 ,P<0.0001),and it was (59.29±14.92)%and (71.96±13.39)%in GCB and non-GCB groups (t= 3.019,P= 0.0038)and (65.29±15.17)% and (74.23±12.70)% in IPI<2 and IPI≥2 groups (t= 2.422,P= 0.0186),respectively.Conclusion The abnormal expression of Ki-67 is closely associated with clinical stages,index of IPI,types,short-term effect and prognosis in DLB-CL,which plays an important role in the diagnosis,treatment and prognosis of DLBCL.

Objective To investigate the different expressions of Ki-67 between diffuse large B cell lymphoma (DLBCL)and the reactive hyperplasia of lymphnode (RH),germinal center B cells (GCB)and non-GCB types,and to explore the clinical significance of Ki-67.Methods Samples from 60 DLBCL patients served as observation group,while the other 20 tissue samples from patients with lymphoid reactive hyperplasia as control group.The difference of Ki-67 expres-sions between GCB and non-GCB were compared and the relationships between Ki-67 expression and DLBCL,the international prognostic index (IPI),short-term efficacy and prognosis were analyzed. Results The average expression rate of Ki-67 was (69.17±14.73)%and (40.50±14.95)% in observation and control groups respectively ,and the difference was significant (t= 7 .5 0 9 ,P<0.0001),and it was (59.29±14.92)%and (71.96±13.39)%in GCB and non-GCB groups (t= 3.019,P= 0.0038)and (65.29±15.17)% and (74.23±12.70)% in IPI<2 and IPI≥2 groups (t= 2.422,P= 0.0186),respectively.Conclusion The abnormal expression of Ki-67 is closely associated with clinical stages,index of IPI,types,short-term effect and prognosis in DLB-CL,which plays an important role in the diagnosis,treatment and prognosis of DLBCL.

Objective To explore the clinical characteristics and related background diseases of type 1 gastric neuroendocrine tumor (g-NET) and to provide reference information for clinical diagnosis and treatment.Methods From Januayy 2011 to February 2019,at the First Affiliated Hospital of Sun Yat-sen University and China-Japan Friendship Hospital,the clinical features and related background diseases of type 1 g-NET patients (41 cases and 93 cases respectively)were retrospectively analyzed.The clinical symptoms,serological indicators,gastroscopic and pathological features,tumor location,metastasis and treatment,and concomitant diseases were statistically described.Results Among 134 patients with type 1 g-NET,there were 53 males (39.6％) and 81 females (60.4 ％);and the mean diagnosed age was (51 ± 11) years (21 to 76 years).Main clinical manifestations were non-specific gastrointestinal symptoms.The mean level of serum chromogranin A was (237.7 ± 176.8) μg/L.The endoscopic findings of 97.8％ (131/134) of the patients were polypoid or protuberant lesions at gastric fundus or gastric body.And 75.0％ (96/128) of the patients had multiple tumors.65.7％ (88/134) of the patients had the tumors with the maximum diameter less than 1 cm (77.2％,88/114) and the lesions mainly located in mucosa (59.8％,52/87) and submucosa (40.2％,35/87).The pathological classification of 79.3％ (96/121) of the tumors was G1 grade and 20.7％ (25/121) were G2 grade.The rate of local lymph node metastasis was 1.4％ (1/73) and no distant metastasis was found.About 70.9％ (95/134) of the patients received endoscopic treatment.Among the patients,93.6％ (103/110) of the patients had chronic atrophic gastritis confirmed by endoscopy or pathology,45.6％ (47/103) were confirmed by both endoscopy and pathology.Among the patients with chronic atrophy gastritis,serum gastrin levels of 93.2％ (96/103) patients were twice higher than the upper limit of the normal value.The positive rates of antiparietal cells antibody (PCA) and intrinsic factor (IFA) were 78.5％ (73/93) and 51.9％ (14/27),respectively.The incidence of Helicobacter pylori (H.pylori) infection was 28.1％ (16/57).The incidence of autoimmune atrophy gastritis was 80.6％ (75/93).The percentage of patients with deficiency of serum vitamin B12 and ferritin was 70.8％ (63/89) and 30.7％ (27/88),respectively.Patients with anemia accounted for 27.8％ (25/90).The patients with microcytic anemia,normocyticanemia and macrocytic anemia were 28.0％ (7/25),56.0％ (14/25) and 16.0％ (4/25),respectively.46.9％ (45/96) of the patients had increased thyroid autoantibodies and 17.9％ (17/95) patients had changes of thyroid hormone level.Conclusions Type 1 g-NET is more common in women and mainly caused by autoimmune atrophic gastritis.The level of serum PCA and IFA increase in more than half of the patients.And it is often accompanied by vitamin B12 deficiency and autoimmune thyroid disease.

Arecoline is a major alkaloid of areca nuts which are widely chewed by southeast Asian and it manifests various toxic effects in different organs of human and animals. In this work, mature mice were treated by vitamins C plus E, arecoline, or both daily for four weeks. The results showed that arecoline significantly increased the levels of serum alkaline phosphatase (ALP), glutamate oxaloacetate transaminase (GOT), glutamate pyruvate transaminase (GPT) and significantly decreased the levels of reduced glutathione (GSH), glutathione-S-transferase (GST), superoxide dismutase (SOD) and catalase (CAT) in the liver tissues. Additionally, the body weight, testis weight, sperm counts, motility and normal sperms also were significantly decreased. The supplement of vitamins C and E can bring the activities of ALP and GPT to normal levels and partially restore the sperm counts compared to the arecoline-treated group but have no other positive effects. In conclusion, the vitamins C and E partially attenuated the arecoline-induced hepatotoxiciy but basically had on protective effects against the arecoline-induced testicular toxicity.
Alkaline Phosphatase ; Animals ; Areca ; Arecoline* ; Asian Continental Ancestry Group ; Body Weight ; Catalase ; Glutamic Acid ; Glutathione ; Humans ; Liver ; Mice* ; Nuts ; Oxaloacetic Acid ; Pyruvic Acid ; Sperm Count ; Spermatozoa ; Superoxide Dismutase ; Testis ; Vitamins*

Objective To compare the clinical efficacy of transperineal prostate laser ablation(TPLA)and transurethral resection of the prostate(TURP)in the treatment of benign prostatic hyperplasia(BPH).Methods A total of 60 BPH patients diagnosed during Oct.2021 and Oct.2022 at Tangdu Hospital were selected as the research subjects and randomly divided into the TPLA group(n=30)and TURP group(n=30).The intraoperative bleeding volume,operation time,catheter indwelling time,length of hospital stay,postoperative sexual dysfunction,and surgical related complications were compared between the two groups.The international prostate symptom score(IPSS),international index of erectile function-5(IIEF-5),maximum urinary flow rate(Qmax),quality of life score(QoL),postvoid residual(PVR)and prostate volume(PV)were compared between the two groups before surgery and 1,3,and 12 months after surgery.Results The TPLA group had significantly less intraoperative bleeding volume,shorter operation time and length of hospital stay compared to the TURP group,but longer catheter indwelling time(P＜0.05).Both groups showed significant improvement in IPSS and Qmax 1,3,and 12 months postoperatively compared to preoperative(P＜0.05),the IPSS of the TPLA group was significantly higher than that of the TURP group 1 and 3 months after surgery(P＜0.05);the Qmax of TPLA group 1,3,and 12 months after surgery was lower than that of the TURP group(P＜0.05).The IIEF-5 score was significantly better in the TPLA group than in the TURP group after surgery(P＜0.05).The postoperative QoL,PV,and PVR levels in both groups improved after surgery(P＜0.05),the QoL of the TPLA group was lower than that of the TURP group 1 and 12 months after surgery(P＜0.05),the PV and PVR of the TPLA group were higher than those of the TURP group 1,3,and 12 months after surgery(P＜0.05).The incidence of surgery-related complications(3.33％vs.26.67％)and postoperative sexual dysfunction(3.33％vs.36.67％)in the TPLA group were lower than those in the TURP group(P＜0.05).Conclusion TPLA shows significant efficacy in treating BPH with minimal impact on the sexual function.It provides a new approach for BPH patients and can serve as an effective complementary method in clinical practice.