Blau syndrome is a rare genetic disorder characterized by the a mix of granulomatous arthritis, uveitis, and dermatitis. Patients typically manifest multisystem involvement, including ocular, skin, and skeletal abnormalities. Blau syndrome is extremely rare, with a global incidence of less than one in a million among children. In this multidisciplinary consultation, we present a case of a 21-year-old young female patient having multisystemic involvement since early childhood. She was presented with multiple joint swelling, skin lesions, increased eye discharge, and accompanied by hypertension and arterial abnormalities, and received a diagnosis of uveitis. The patient had been receiving steroid treatment since the age of 6 and has tried various medications, with some improvement in joint swelling and ocular symptoms. Through this rare disease multidisciplinary consultation, we aim to provide guidance in the molecular diagnosis of the patient, multisystem assessment, and the selection and formulation of treatment plans. Additionally, we hope that by reporting this case, clinical physicians can gain a better understanding of the diagnosis and comprehensive treatment strategies for Blau syndrome, thereby improving the management and treatment of rare diseases.

Objective:To investigate the short-term transplantation effect of different vitrification sollutions in order to optimize the cryopreservation protocol on human ovarian tissue.Methods:Ovarian tissues came from 4 patients who were treated surgically due to gynecological diseases in Peking University Shenzhen Hospital from March 2018 to December 2019. The size of 5-10 mm×10 mm×1 mm ovarian tissues were distributed to fresh control group and four experimental groups (G1, G2, G3 and G4). After equilibrium and thawing, the frozen ovarian tissues were grafted into chorioallantoic membrane (CAM). The transplanted ovarian tissues were collected 5 d after transplantation. The morphology of follicles was assessed by HE, the expression of CD105 protein was detected by immunohistochemistry and the microvascular density was recorded. The expression of Bcl-2 and Bax proteins was detected by Western blotting.Results:There was a significantly difference in the percentage of morphologically normal primordial follicles (MNPF) among G1 [63.2% (24/38)], G2 [68.3% (28/41)], G3 [61.9% (26/42)], G4 [69.6% (32/46)] and fresh control groups [82.8% (82/99), P=0.044]. Compared with fresh control group, the percentages of MNPF were statistically lower in the treatment groups (all P<0.05). The CD105-microvascular density (MVD) in fresh control group, G1, G2, G3 and G4 groups were 6.51±1.30/mm 2, 11.10±1.62/mm 2, 13.04±1.84/mm 2, 9.11±1.09/mm 2, 11.28±1.62/mm 2, respectively. The CD105-MVD in four treatment groups after transplantation was significantly higher than that of fresh control group ( P<0.001, P<0.001, P=0.022, P<0.001), and the CD105-MVD of G1, G2 and G4 groups was higher than that of G3 group ( P=0.024, P<0.001, P=0.034). The ratio of Bcl-2/Bax in G1, G2, G3, G4 groups and fresh control group were 0.71±0.37, 0.84±0.29, 0.45±0.18, 0.84±0.29 and 0.44±0.21, respectively. The ratio of Bcl-2/Bax of G2 group was statistically higher than that of fresh control group and G3 group ( P=0.025, P=0.038). Conclusion:After 5 d of transplantation into CAM, the percentage of normal primordial follicles is lower. Acorrding to the higher vascularization and anti-apoptotic ability, G2 and G4 are the optimal vitrification protocol for human ovarian tissue cryopreservation.

Objective:To investigate the short-term transplantation effect of different vitrification sollutions in order to optimize the cryopreservation protocol on human ovarian tissue.Methods:Ovarian tissues came from 4 patients who were treated surgically due to gynecological diseases in Peking University Shenzhen Hospital from March 2018 to December 2019. The size of 5-10 mm×10 mm×1 mm ovarian tissues were distributed to fresh control group and four experimental groups (G1, G2, G3 and G4). After equilibrium and thawing, the frozen ovarian tissues were grafted into chorioallantoic membrane (CAM). The transplanted ovarian tissues were collected 5 d after transplantation. The morphology of follicles was assessed by HE, the expression of CD105 protein was detected by immunohistochemistry and the microvascular density was recorded. The expression of Bcl-2 and Bax proteins was detected by Western blotting.Results:There was a significantly difference in the percentage of morphologically normal primordial follicles (MNPF) among G1 [63.2% (24/38)], G2 [68.3% (28/41)], G3 [61.9% (26/42)], G4 [69.6% (32/46)] and fresh control groups [82.8% (82/99), P=0.044]. Compared with fresh control group, the percentages of MNPF were statistically lower in the treatment groups (all P<0.05). The CD105-microvascular density (MVD) in fresh control group, G1, G2, G3 and G4 groups were 6.51±1.30/mm 2, 11.10±1.62/mm 2, 13.04±1.84/mm 2, 9.11±1.09/mm 2, 11.28±1.62/mm 2, respectively. The CD105-MVD in four treatment groups after transplantation was significantly higher than that of fresh control group ( P<0.001, P<0.001, P=0.022, P<0.001), and the CD105-MVD of G1, G2 and G4 groups was higher than that of G3 group ( P=0.024, P<0.001, P=0.034). The ratio of Bcl-2/Bax in G1, G2, G3, G4 groups and fresh control group were 0.71±0.37, 0.84±0.29, 0.45±0.18, 0.84±0.29 and 0.44±0.21, respectively. The ratio of Bcl-2/Bax of G2 group was statistically higher than that of fresh control group and G3 group ( P=0.025, P=0.038). Conclusion:After 5 d of transplantation into CAM, the percentage of normal primordial follicles is lower. Acorrding to the higher vascularization and anti-apoptotic ability, G2 and G4 are the optimal vitrification protocol for human ovarian tissue cryopreservation.

Objective:To investigate the influencing factors of significant liver fibrosis in patients with chronic hepatitis B (CHB) concurrent with non-alcoholic fatty liver disease (NAFLD).Methods:Those who underwent liver pathological examination and confirmed diagnosis of CHB and NAFLD in Tianjin Second People′s Hospital from August 2014 to September 2017 were enrolled. Data regarding their demographic information, laboratory tests results, and liver pathology results were analyzed. The latter results were used to categorize the patients either in non-significant liver fibrosis group (Metavir stage

PURPOSE: This study aims to investigate the feasibility of contouring target volume according to residual tumor and decreasing the dose to the tumor regression field after induction chemotherapy (IC) in locoregionally advanced nasopharyngeal carcinoma (NPC). MATERIALS AND METHODS: From August 2009 to August 2013, patients with stage III–IVB NPC were treated with IC and concurrent chemoradiotherapy. Gross tumor volume of nasopharynx (GTVnx)–residual and gross tumor volume of cervical lymph node (GTVnd)–residual were contoured according to post-IC residual primary tumor and any N+ disease, respectively. The tumor regression field was included in CTVnx1/CTVnd1 and prescribed a dose of 60 Gy. Outcomes and toxicities of all patients were evaluated. RESULTS: A total of 57 patients were enrolled. At a median follow-up of 68 months, three cases displayed locoregional recurrence and one case showed both distant metastasis and locoregional recurrence. All locoregional recurrences were in the GTVnx-residual/GTVnd-residual and in-field. The 5-year overall, locoregional relapse-free, distant metastasis-free, and progression-free survival rates were 82.2%, 87.7%, 85.8% and 80.3%, respectively. CONCLUSION: After IC, contouring of GTVnx-residual/GTVnd-residual as residual tumor volume and distribution 60 Gy ofradiation dose to the tumorregression field may be feasible and need further investigation.
Chemoradiotherapy ; Disease-Free Survival ; Follow-Up Studies ; Humans ; Induction Chemotherapy ; Lymph Nodes ; Nasopharynx ; Neoplasm Metastasis ; Neoplasm, Residual ; Radiotherapy, Intensity-Modulated ; Recurrence ; Tumor Burden

Objective To evaluate the effect of donor-derived infection on the clinical prognosis of the recipients undergoing liver transplantation. Methods Clinical data of 75 donors and recipients undergoing liver transplantation were retrospectively analyzed. According to the culture results of donor organ lavage fluid, all recipients were divided into the positive group (n=26) and negative group (n=49). Clinical parameters of the recipients during perioperative period were observed in the positive and negative groups. The sputum and peritoneal drainage fluid of the recipients undergoing liver transplantation were cultured. The incidence of postoperative infection of the recipients was observed. The 1.5-year survival curve of the recipients was analyzed by Kaplan-Meier method. Results In the positive group, the incidence of portal vein stenosis and thrombosis was significantly higher than that in the negative group (P < 0.05). Among 75 recipients undergoing liver transplantation, 33 cases (44%) developed postoperative infection mainly in the lung and abdominal cavity. The infection rate significantly differed between the positive group (77%) and negative group (27%, P < 0.05). In the positive group, sputum culture was positive in 10 recipients and peritoneal drainage culture was positive in 11 recipients. The sputum culture outcomes of 4 recipients were consistent with those of the organ lavage fluid culture of their donors. The peritoneal drainage culture results of 6 recipients were consistent with those of the organ lavage fluid culture of their donors. After anti-infection treatment, 2 recipients in the positive group died at postoperative 5 and 12 d, and the culture results of the remaining recipients were negative. In the negative group, 7 recipients were positive for sputum culture and 6 recipients were positive for peritoneal drainage culture. The culture results of all recipients were negative following anti-infection therapy. Two recipients died from graft failure at postoperative 1 month and 1 year. The 1.5-year survival rate did not significantly differ between the positive and negative groups (P > 0.05). Conclusions The effect of donor-derived infection on the early prognosis of liver transplant recipients cannot be neglected, whereas it exerts mild impact on the intermediate- and long-term clinical prognosis of the recipients.

Objective To retrospectively explore the clinical symptoms ,diagnosis ,treatment and prognosis of posttransplant lymphoproliferative disorder (PTLD) after pediatric liver transplantation .Methods The diagnosis and treatment of PTLD were reviewed for 3 children recipient with living donor liver transplantation .Their primary diseases were biliary atresia ,glycogen storage disease type III and ornithine-transcarbamylase deficiency . All of them received FK506 for immunosuppression therapy . They were diagnosed as PTLD at 7 ,8 ,6 months post-operation respectively .Their major clinical manifestations were non-specific ,including fever ,diarrhea and anemia .Positron emission tomography/computed tomography (PET/CT) and ultrasound revealed enlarged mesenteric lymph nodes with neck lymphoadenopathy (n=2) . Pathological examinations of resected enlarged lymph nodes indicated post-transplantation lymphoproliferative disorder .One case was diffuse large B cell lymphoma and two of them belonged to preliminary EBER + . Results After a definite diagnosis ,there was one cycle of R-CHOP regimen (rituximab ,cyclophosphamide , pirarubicin ,vincristine ,dexamethasone) or 2 cycles of rituximab along with a .reduction of anti-rejection drug and they stayed in remission .Three were followed up for 37 ,39 and 20 months respectively from May 31 , 2019 . Currently transplanted liver function was stable and EBV viral load remained negative persistently .Conclusions This case highlights the complexity of clinical presentations and co-morbidities of PTLD . Reducing immunosuppressive agents and using rituximab plus chemotherapy can achieve a satisfactory efficacy for Epstein-Barr virus-related PTLD patients after pediatric liver transplantation .

Objective : To analyze the morphology and incidence of middle mesial canal (MM) and isthmus in the mandibular first permanent molar by cone-beam computed tomography (CBCT). Methods: Statistical analysis was performed on images from patients who underwent CBCT examination in the Department of Radiology at Stomatological Hospital, Southern Medical University. Samples exhibiting root canal treatment, root resorption and calcification were excluded. Data regarding sex, age, the presence or absence of isthmus and MM, and the number of roots and root canals were recorded. Results : Of the 217 mandibular first molar samples, 8 (3.7%) had an MM, and 2 (0.9%) had an independent apical foramen. The overall incidence rate of isthmus was 57.1%; this rate was 50.7% in the cervical third of the root canal, 17.5% in the middle third, and 13.4% in the apical third. The incidence rate of isthmus was 61.8% on the left side, 52.3% on the right side, 58.7% in males, and 55.8% in females. No significant difference was found between the left and right sides or between females and males (P > 0.05). The incidence rate of isthmus in people under 60 was greater than 50% but was significantly lower in people older than 60. Conclusion Only a very small proportion of MMs have an independent apical foramen in the mandibular first molar. The incidence of isthmus in the mesial root of the mandibular first permanent molar is high, and isthmus usually occurs in the cervical third of the root canal. During root canal treatment or apical surgery, attention should be given to the physical and chemical preparation of the isthmus.

OBJECTIVE:To study the effects of tilianin(TIL)on brain tissue in rats with cerebral ischemia-reperfusion injury. METHODS:Totally 120 male SD rats were randomly divided into sham operation group(0.9% sodium chloride solution),model group(0.9% sodium chloride solution),nimodipine group(32 mg/kg)and TIL low-dose and medium-dose,high-dose groups(4, 8,16 mg/kg),with 20 rats in each group. The rats were given relevant medicine intragastrically,once a day,for consecutive 7 d. 15 min after last medication,cerebral ischemia-reperfusion injury model was established by reforming suture-occluded method. The neurological deficit score in rats were evaluated, and percentage of cerebral infarction volume of rats was determined. Histopathological changes of brain tissue were observed by HE staining. The activities of SOD,CAT and LDH,MDA content in cerebral tissue of rats were determined. The expression of calcitonin gene-related peptide(CGRP)and peripheral vascular endothelial growth factor receptor 2 (VEGFR2) protein were determined by Western blot assay. RESULTS:Compared with sham operation group,neurological deficit score and percentage of cerebral infarction volume of model group were increased significantly(P＜0.01);the nerve cells in brain tissue were significantly reduced and the interstitial edema was obvious. SOD and CAT activities were decreased significantly,LDH activity was increased significantly,MDA content was decreased significantly,protein expression of CGRP and VEGFR2were increased significantly(P＜0.05 or P＜0.01). Compared with model group,neurological deficit score of nimodipine group,TIL medium-dose and high-dose groups were decreased significantly;percentage of cerebral infarction volume was decreased significantly (P＜0.05 or P＜0.01);above pathological conditions of cerebral tissue in rats were relieved significantly;SOD and CAT activities were strengthened significantly,MDA content and LDH activities were decreased significantly,protein expression of CGRP and VEGFR2were increased significantly (P＜0.05 or P＜0.01). CONCLUSIONS: TIL has certain protective effects on cerebral ischemia-reperfusion injury model rats,and its mechanism may be related to the up-regulation of CGRP and VEGFR2expression.

OBJECTIVE To study the antiinflammatory function of human beta defensin 2(hβD-2) on acute rhinosinusitis in rats,in order to provide a new therapy for acute rhinosinusitis.METHODS Acute rhinosinusitis model were established on SD rats before and after the transfection of plasmid,the rats in experimental group were dropped with recombinant hβD-2 plasmid mixture in nose,while with empty plasmid mixture in control group.Immunohistochemistry method was used to prove the transfection results,nasal mucosa were hematoxylineosin stained to compare the pathological difference of nasal mucosa,nasal lavage fliud was collected and cultured to compare the colony number of the bacteria.RESULTS The expression of hβD-2 was confirmed by immunohistochemistry method,which mainly distributed in mucosal epithelium and gland,pathological results showed that the inflammation of nasal mucosa in experimental group was significantly relieved than that in control group.The number of Staphylococcus auresus colony number was significantly decreased in experimental group,while there was no significantly change in the control group.CONCLUSION Recombinant hβD-2 plasmid can be successfully transfected into the nasal mucosa of rats and expressed effectively.The anti-inflammatory ability of nasal mucosa was increased after the transfection,which is expected to provide a new treatment approach for acute rhinosinusitis.