SUMMARY Syncope is a common emergency of children and adolescents, which has serious influence on the quality of life. Neurally-mediated syncope, including postural tachycardia syndrome, vasovagal syncope, orthostatic hypotension and orthostatic hypertension, is the main cause of syncope in children and adolescents. The main manifestations of neurally-mediated syncope are diverse, such as dizziness, headache, chest tightness, chest pain, pale complexion, fatigue, pre-syncope and syncope. Although the clinical manifestations are similar, each subtype of syncope has its hemodynamic feature and optimal treatment option. The diagnosis rate of syncope in children has been greatly improved on account of the development of the diagnostic procedures and methods. In recent years, with the promotion of head-up tilt test and drug-provocated head-up tilt test, the hemodynamic classification of neurally-mediated syncope gets continually refined. In recent years, with the effort of clinicians, an appropriate diagnostic protocol for children with syncope has been established. The initial evaluation consists of history taking, physical examination, standing test and standard electrocardiography. After the initial evaluation, some patients could be diagnosed definitely, such as postural tachycardia syndrome, orthostatic hypotension, and situ-ational syncope. Those with a specific entity causing syncope need selective clinical and laboratory investi-gations. Patients for whom the cause of syncope remained undetermined should undergo head-up tilt test. The precise pathogenesis of neurally-mediated syncope is not entirely clear. In recent years, studies have shown that neurally-mediated syncope may be related to several factors, including hypovolemia, high catecholamine status, abnormal local vascular tension, decreased skeletal muscle pump activity and abnormal neurohumoral factors. Currently based on the possible pathogenesis, the individualized treatment of neurally-mediated syncope has also been studied in-depth. Generally, the management of neurally-mediated syncope includes non-pharmacological and pharmacological interventions. Patient education is the fundamental part above all. In addition to exercise training, the first-line treatments mainly include oral rehydration salts, beta adrenoreceptor blockers, and alpha adrenoreceptor agonists. By analyzing the patient’s physiological indexes and biomarkers before treatment, the efficacy of medication could be well predicted. The individualized treatment will become the main direction in the future researches.

Objective: To evaluate the ability of multiplex competitive fluorescence polymerase chain reaction in detection of large deletion and duplication genotypes of X-linked Alport syndrome. Methods: Clinical diagnosis of X-linked Alport syndrome was based on either abnormal staining of type Ⅳ collagen α5 chain in the epidermal basement membrane alone or with abnormal staining of type Ⅳ collagen α5 chain in the glomerular basement membrane and Bowman’s capsule/ultrastructural changes in the glomerular basement membrane typical of Alport syndrome. A total of 20 unrelated Chinese patients (13 males and 7 females) clinically diagnosed as X-linked Alport syndrome were included in the study. Their genotypes were unknown. Control subjects included a male patient with other renal disease and two patients who had large deletions in COL4A5 gene detected by multiplex ligation-dependent probe amplification. Genomic DNA was isolated from peripheral blood leukocytes in all the participants. Multiplex competitive fluorescence polymerase chain reaction was used to coamplify 53 exons of COL4A5 gene and four reference genes in a single reaction. When a deletion removed exon 1 of COL4A5 gene was identified, the same method was used to coamplify the first 4 exons of COL4A5 and COL4A6 genes, a promoter shared by COL4A5 and COL4A6 genes, and three reference genes in a single reaction. Any copy number loss suggested by this method was verified by electrophoresis of corresponding polymerase chain reaction amplified products or DNA sequencing to exclude possible DNA variations in the primer regions. Results: Genotypes of two positive controls identified by multiplex competitive fluorescence polymerase chain reaction were consistent with those detected by multiplex ligation-dependent probe amplification. Deletions were identified in 6 of the 20 patients, including two large deletions removing the 5' part of both COL4A5 and COL4A6 genes with the breakpoint located in the second intron of COL4A6, two large deletions removing more than 30 exons of COL4A5 gene, one large deletion removing at least 1 exon of COL4A5 gene, and one small deletion involving 13 bps. No duplication was found. Conclusion: Our results show that multiplex competitive fluorescence polymerase chain reaction is a good alternative to classical techniques for large deletion genotyping in X-linked Alport syndrome.

Objective: To deepen our understanding of Methylmalonic aciduria (MMA) associated pulmonary hypertension (PH) by analyzing the characteristics of clinical presentation, pulmonary high resolusion CT(HRCT), treatment response and gene mutation. Methods: This study includes 15 cases of pediatric patients with MMA associated PH diagnosed and treated in Peking University First Hospital pediatric department between May 2012 and May 2016 with symptoms of PH as their leading presentation. Clinical symptoms and signs were recorded, Routine blood laboratory examinations was done including arterial blood gas analysis. Plasma total homocysteine (Hcy) and brain natriuretic peptide(BNP) level were measured. MMA gene mutation was analyzed. Chest HRCT was done in most of the patients. Standard treatment strategy to MMA and PH was given and follow up study was done, and the related literature was reviewed. Statistical analysis was done. The diagnosis of MMA was made by methylmalonic acid level >100 times the normal value in the urine. The diagnosis of PH was made by pulmonary arterial systolic pressure (PASP)>40 mmHg, which was estimated by the measurement of tricuspid regurgitation velocity through Doppler Echocardiography. Results: (1) Patient characteristics: There were 10 male and 5 female patients diagnosed as MMA associated PH, aged 0.5 to 13.8 years, with an average of (5.0±4.3) years. The age of onset of PH was (3.7±3.5) years, with an early onset type MMA in 5 cases and late-onset type in 10 cases. (2) Clinical presentation: Among the 15 cases of MMA, the first symptoms were associated with PH in 10 cases , so PH and MMA were diagnosed at the same time, and PH was diagnosed 3 to 72 months post MMA presentation in the other 5 cases. The main presentations of PH were techypnea /dyspnea and cyanosis in 11 cases each, weakness and fatigue on exertion in 6 cases, and edema in 4 cases. PH WHO functional classification (WHO FC) was ClassⅡin 4 , Class Ⅲ in 5 and Class Ⅵ in 6 cases, with an average of Class 3.1±0.8. Multi-system involvements were common with the highest frequency in the kidney (14 cases). Macrocytic anemia was present in 8 cases and sub-clinical hypothyroidism in 5 cases, and mild to moderate mental retardation in 4 cases. (3) Laboratory examination: PASP of the 15 patients was from 49 to 135 mmHg, with an average of (90.3±23.9) mmHg. Total blood Hcy level was severely elevated to (121.2±48.2) μmol/L (range: 35.0-221.0 μmol/L), and Hcy >100 μmol/L within 11 cases. Plasma BNP level was also elevated, median 794 ng/L (range: 21.0-4 995.0 ng/L) with 12 cases >300 ng/L. Blood gas analysis showed low arterial blood oxygen saturation between 70% and 94%, with an average of 81.4%±8.4%. (4) Chest HRCT: chest HRCT showed a diffuse ground-glass centrilobular nodular opacities with septal line thickening in the lungs in 9 cases, and with associated mediastinal lymph node enlargement in 1 case, which indicated pulmonary veno-occlusive disease (PVOD), a rare type of pulmonary arterial hypertension (PAH). There was lung infection or edema in 3 cases , and interstitial infiltration and mesh-like feature in other 3 cases, which was inferred to interstitial lung disease. (5) Gene mutation: Genetic testing was done in 10 cases, totally 5 reported disease-causing mutations were found. There were 100% presence of MMACHC c.80A>G mutation in all the 10 patients tested, with the allelic genes of c.609G>A mutation in 6 patients, including a sister and a brother from the same parents. (6). Treatment and follow up: Intramuscular hydroxocobalamin or vitamin B12 was given to all of the patients, together with betaine, levocarnidtine, folinic acid and vitamin B6. According to the severity of PH, single or combined PAH targeted drugs was given to 11 cases. By an average of (20.0±13.5) days of in-hospital treatment in 13 patients (excepting 1 case treated as outpatient), symptoms remarkably resolved, WHO FC reduced to an average of Class 2.4±0.9, PASP dropped to (69.4±21.3) mmHg, and plasma Hcy and BNP level were decreased to (74.9±25.9) μmol/L and (341.6±180.2) ng/L, respectively. The above values all reached statistical significance (P<0.05) compared with each related value before treatment. There were 2 patients who expired during hospitalization despite of treatment. At the end of 3 months’ follow up, all of the 13 patients disposed oxygen, and PASP significantly dropped to 38.7±7.9 mmHg, and plasma BNP returned to normal, but plasma Hcy level showed no further decline. At the last follow up of 27.5±19.0 (range: 11-64) months, all the patients’ PASP remained normal except for the 13.8-year-old boy with 6 years-long history of MMA and almost 3.6 years’ history of PH still having PASP 58 mmHg. Conclusion: PH is a severe complication of MMA combined type, especially cblC type, it is more often happens in late-onset type of male patients and can be the first and leading manifestations of MMA. Its clinical symptoms are urgent and severe, characterized by tachypnea/dyspnea and cyanosis, and sometimes right heart failure, hypoxemia is usually present, chest HRCT is often indicative of PVOD, lung edema and interstitial lung disease may occur. Rapid diagnosis and targeted treatment of MMA with appropriate anti-PAH medication can reverse PH and save life. MMACHC gene c.80A>G mutation may be the hot point of MMA cblC type associated PH.

Objective: To assess the correlation and consistency between continuous noninvasive hemoglobin detection and venous blood hemoglobin detection in children with kidney disease, and try to analyze the affecting factors. Try to provide a reference for the monitoring of hemoglobin in children with kidney disease by continuous noninvasive hemoglobin detection technique. Methods: Eighty-five inpatient children with kidney disease, 50 boys (58.8%) and 35 girls (41.2%), aged from 3 years old to 18 years old (9.35±4.29) were included finally. Noninvasive hemoglobin monitoring by spectrophotometry (SpHb) was stably read by PRONTO-7, selecting the ring finger of the non handedness as the detection site. And then the venous blood hemoglobin of the same patient was collected in 5 minutes as the true hemoglobin (tHb) by Beckman coulter DXH-800. The data of SpHb and tHb were compared and analyzed using SPSS 17.0 and MedCalc. Results: Correlation analysis showed data of SpHb and tHb were with significant correlation, the correlation coefficient between SpHb and tHb was 0.85 (P<0.05). Bland-Altman plot points suggested that the mean of differences between SpHb and tHb was -1.3 g/dL. The 95% CI of agreement of SpHb-tHb was -4.2-1.5 g/dL, suggesting that the average measurement result of SpHb was lower than that of tHb. The mean of differences as percent between SpHb and tHb was -9.8%, 95% CI of agreement was (-35.9%, 16.2%) exceeding the acceptable range of true value ±6%. The consistent rate of non-invasive hemoglobin detection and venous blood hemoglobin detection was 31.8%, the 95% CI of consistent rate was (21.7%, 41.9%). The chi square test of the fourfold table showed that the diagnosis of anemia with SpHb was of high sensitivity, but the specificity was low, the false positive rate was high, and the difference was statistically significant (P=0.000). Conclusion: There was a significant correlation between SpHb and tHb in the children with kidney disease. Noninvasive hemoglobin measurement can be used for monitoring of changes of hemoglobin in children with kidney diseases. But the consistency between SpHb and tHb needs to be improved. Noninvasive hemoglobin measurement could not replace the venous hemoglobin measurement. It could not be used for the diagnosis of anemia, and the accuracy of hemoglobin concentration measurement in children with kidney disease should be further explored.

Objective: To explore the clinical characteristics of the co-morbidity of vasovagal syncope (VVS) and postural tachycardia syndrome (POTS) with allergic diseases in children. Methods: A re-trospective analysis was launched to summarize the clinical data of children with VVS and POTS. They were divided into allergic group and non-allergic group according to the history of allergic diseases. The participants’ clinical characteristics were compared between allergic group and non-allergic group using independent sample t test or rank sum test; composition comparisons were completed by Chi-square test. Bi-variate correlation analysis was used to explore the association between eosinophil percentage/count and symptom scores/frequency of syncope episodes. A P value <0.05 was defined as statistically significant. Results: Sixty-seven children complaining of orthostatic intolerance (43 patients diagnosed as VVS and 24 cases diagnosed as POTS) were enrolled. Totally 21 cases (31%) had allergic diseases, including allergic rhinitis, atopic eczema, asthma, as well as food allergy. And allergic rhinitis is the most common co-morbidity. There were no significant differences between the two groups in age, gender ratio, height, body weight and basement blood pressure. Compared with the non-allergic group, the allergic group showed later onset age (year) (11±2 vs. 9±3, P<0.05) of orthostatic intolerance and shorter course of the diseases (month) [8.0 (0.1, 0.1) vs. 24.0 (0.1, 144.0), P<0.05]. The frequency of syncope episodes in the allergic group among VVS children (times per month) [2.50 (0.08, 30.00) vs. 0.25 (0.03, 5.00), P<0.05] was much higher than that in the non-allergic group. Additionally, the eosinophil percentage (%) [3.50 (0.70, 0.59) vs. 1.65 (0.30, 6.20), P<0.001] and eosinophil count (×10⁹) [0.18 (0.05, 0.71) vs. 0.10 (0.02, 0.38), P<0.001] were increased in the allergic group. However, there were no remarkable differences in the results of head-up tilt test in children with VVS or in the maximum change of heart rate during standing test in children with POTS were involved. Conclusion: Allergic diseases are common co-morbidities in children with both VVS and POTS. Allergic rhinitis is the most common co-morbidity. Children with co-morbidity of VVS/POTS and allergic diseases had a later onset of symptoms of orthostatic intolerance, and were more likely to be hospitalized for intensive attacks of symptoms during a short period when compared with those without allergic diseases. Children diagnosed as VVS combined with allergic diseases had more frequent episodes of syncope.

Objective: To study the characteristics of neonatal fungal sepsis and the difference between bacterial sepsis and fungal sepsis. To improve the understanding of neonatal fungal sepsis. Methods: Clinical data of neonatal fungal sepsis in neonatal intensive care unit (NICU) were collected from 2011 to 2016 in Peking University first Hospital. The clinical characteristics were analyzed retrospectively. The difference between neonatal fungal sepsis and bacterial sepsis was also analyzed. Results: Fifteen cases of neonatal fungal sepsis were recruited. Over the study period, the incidence of neonatal fungal sepsis was 0.52%, while it was 2.5% in very low birth weight infants. Clinical characteristics were nonspeci-fic. All the infants were treated with parenteral nutrition and broad spectrum antibiotics. Peripheral inserted central catheter (PICC) was placed in thirteen patients. Pathogenic analyses indicated Candida glabrata was the main pathogen in our study. All the pathogens were sensitive to amphotericin B. Only one Candida glabrata was resistant to fluconazole. Thirty-four cases of bacterial sepsis were included. The clinical characteristics and laboratory examination results were compared. The platelet count was 61×10⁹/L in fungal group, while the platelet count was 178×10⁹/L in bacterial group. There was statistical difference between the fungal group and bacterial group (P=0.004). The rate of thrombocytopenia was 80.0% in fungal group, while it was 29.4% in bacterial group. It was much higher in fungal group than in bacterial group (P=0.001). The rate of PICC placement was 86.7% in fungal group, while it was 55.7% in bacterial group. It was much higher in fungal group than in bacterial group (P=0.037). Receiver operating characteristic (ROC) curve analysis showed that the cut-off value of the platelet count for the diagnosis of neonatal fungal sepsis was 145×10⁹/L (sensitivity 61.8%, specificity 92.9%). All the patients were cured after standardized antifungal therapy. The indicators of liver and renal function were also measured before and after antifungal therapy. No significant difference was observed before and after treatment. Conclusion: The clinical characteristics of neonatal fungal sepsis was nonspecific. Candida glabrata was the main pathogen in our NICU. It can be cured as the result of standardized treatment. Decreased platelet count and PICC placement may indicate the possibility of fungal sepsis in neonates.

Objective: To investigate the clinical features and side effects, with regard to glucocorticoid-induced ocular hypertension, glaucoma or cataract in children with primary nephrotic syndrome. Methods: Clinical data were collected and analyzed from 71 cases of primary nephrotic syndrome with glucocorticoid-induced ocular hypertension, glaucoma or cataract from Jun. 2014 to Jun. 2016. These children were hospitalized in Peking University First Hospital. Results: Totally 1 580 children with primary nephrotic syndrome were collected, glucocorticoid-induced complications in eyes were found in 71 cases, and the incidence was 4.5%. There were 66 cases with ocular hypertension, 2 cases with glucocorticoid glaucoma, 2 cases with glucocorticoid glaucoma combined with cataract, 1 case with high intraocular pressure combined with cataract. There were 41 boys and 30 girls with eye-related side effects caused by glucocorticoid. The average age of onset of glucocorticoid-induced eye adverse reactions in children with primary nephrotic syndrome in our research were 8 (2, 16) years. The average duration or interval time from glucocorticoid medication use to eye adverse effects was 157 (6, 420) days. No statistical significance was found in intraocular pressure between different genders, types of glucocorticoid, different route of glucocorticoid and whether methylprednisolone pulse treatment (P>0.05). There was no significant correlation between age, body mass index, blood pressure, cumulative dosage, duration time of glucocorticoid, mean daily dosage and glucocorticoid-induced ocular hypertension (P>0.05). The ocular hypertension was controlled after treatment. Conclusion: Children with nephrotic syndrome after treatment of glucocorticoid are susceptible to ocular complications, and the occurrence of ocular hypertension is closely related to glucocorticoid susceptibility of the nephrotic children. Regular eye monitor is indispensable for the children suffering from primary nephrotic syndrome.

Objective: To estimate the prevalence and trend of autism spectrum disorders (ASD) in children aged 0-6 years in China. Methods: Systematic literature searches were conducted in PubMed, Web of Science, Scopus, China National Knowledge Infrastructure (CNKI), Chinese Biomedical Literature Database (CBM), Wanfang and Weipu Database (VIP ), and the literatures published before February 25, 2017 were selected according to the same criteria. Prevalence Data of three periods were abstracted, then pooled using random effect model. Subgroup analysis was done across data resource, age group, screening criteria, diagnostic criteria, and literature quality. Results: In the study, 9 ASD stu-dies and 20 autism (also known as autistic disorder, AD) studies were eligible for review. The pooled prevalence of AD in children aged 0-6 years in 2006-2010 and 2011-2015 was 1.74 ‰ (95%CI: 1.12‰-2.69‰) and 1.80‰ (95%CI: 1.33‰-2.43‰), and there was no significant difference between the two groups (P=0.898), but they were higher than 0.94‰ (95%CI: 0.67‰-1.33‰) in 1996-2005 (P=0.031; P=0.005) significantly. The pooled prevalence of ASD in children aged 0-6 years was 3.52 ‰ (95% CI: 1.48‰- 8.34‰) and 3.48‰ (95%CI: 1.77‰-6.84‰) in 2006-2010 and 2011-2015, respectively, and the difference between the two periods was not significant (P=0.983). There was no significant difference between the pooled prevalence in the three periods among the boys, and girls’ too. The pooled prevalence of ASD in children aged 0-6 years was 3.51‰ (95%CI: 2.15‰-5.74‰) and AD was 1.77‰ (95%CI: 1.40‰-2.24‰) in 2006-2015, with prevalence ratios of boys to girls 2.59 ∶1 and 3.63 ∶1, respectively. The pooled prevalence of AD was lower in 0-6 years children than in other age groups and higher in high-quality studies than in low-quality studies, which was the same as ASD. Data resource, screening and diagnostic criteria were not significantly related with the pooled prevalence of AD and ASD. Conclusion: The prevalence of ASD and AD in children aged 0-6 years in China from 2006 to 2015 was stable, and there was not enough evidence to prove that it was higher than before 2005. National survey and monitoring of early childhood autism should to be conducted.

Objective: Tacrolimus prolonged-release(PR) formulation is a new once-daily formulation of the calcineurin inhibitor tacrolimus, which is currently used in adult liver or kidney transplant patients,and is also gradually widely used in children with nephrotic syndrome.The present study was undertaken to preliminarily investigate the pharmacokinetic characteristics of tacrolimus PR in pediatric nephrotic syndrome recipients. Methods: This single-center open-label prospective study was performed in pediatric nephrotic syndrome recipients. Pharmacokinetic samples were collected from eight pediatric subjects with nephrotic syndrome from Department of Pediatric Nephrology in Peking University First Hospital between June and August 2011. They followed administration of single oral doses of tacrolimus PR formulation at 0.02 mg/kg (n=2), 0.05 mg/kg (n=2) and 0.10 mg/kg (n=4). Blood samples were taken before the dose and 1, 2, 4, 6, 8, 10, 12 and 24 h after drug intake. No other medicines or interacting food or drinks were taken during the study period. Blood concentrations were measured using an enzyme multiplied immunoassay technique. Pharmacokinetic analysis was performed using WinNolin Phoenix software Version 6.0(Pharsight, Cary, NC,USA). Results: The pharmacokinetic data were best described by a non-compartment model. Pharmacokinetic parameters of tacrolimus PR formulation in the 3 ascending doses groups (0.02 mg/kg,0.05 mg/kg and 0.10 mg/kg) were as follows: the maximum drug concentrations (C_max/D) were (1.7±1.0) μg/L, (3.1±1.9) μg/L, (8.0±3.5) μg/L, respectively;Areas under the drug concentration-time curve(AU_0-∞/D) were (47.2±47.1) h·μg/L, (84.0±13.1) h·μg/L, (175.6±107.1) h·μg/L, respectively; Oral clearance rates were (0.8±0.9) L/(h·kg), (0.4±0.1) L/(h·kg), (1.9±1.3) L/(h·kg), respectively; Body weight normalized distribution volumes were (7.0±3.4) L/kg, (12.4±8.4) L/kg and (73.6±68.6) L/kg, respectively. Both mean C_max normalized level for the administered dose(C_max/D) and mean AU_0-∞ normalized level for the administered dose (AU_0-∞/D) were higher in the 0.05 mg/kg dosage group than in the 0.02 and 0.10 mg/kg dosage group. There were two peaks in the drug concentrations in every dose group;a primary peak appeared at the end of about 2 h followed by a small secondary peak at h 12, which was more noticeable in the 0.10 mg/kg dose group than in the two lower dosages. Conclusion: The pharmacokinetic characteristics of tacrolimus PR formulation were initially explored in pediatric patients with nephritic syndrome. The data presented form a basis for subsequent larger scale studies on pharmacokinetics of tacrolimus PR formulation in nephritic syndrome children.

Objective: To investigate the effects of the recent upper respiratory tract infections (URI) on the incidence of perioperative respiratory adverse events in children scheduled to undergo general anesthesia and elective surgery. Methods: In the study, 232 children undergoing general anesthesia with laryngeal mask airway (LMA) for elective ophthalmic surgeries at Peking University First Hospital, Beijing, China, from Nov. 1, 2015 to May 10, 2016 were enrolled. On the day of the surgery, the parents of the children were preoperatively asked to fill out a questionnaire regarding the baseline characteristics and medical history of the children, including gender, age, height, weight, history of URI within the last 2 weeks before anesthesia, history of premature, long-term passive smoking exposure, habitual sleep snoring, and history of asthma. In addition, all adverse respiratory events throughout the perioperative pe-riods (oxygen desaturation, cough, copious secretions, laryngospasm and bronchospasm) as well as peri-operative variables (number of attempts to insert the LMA successfully, anesthesia duration and so on) were recorded. Multivariate Logistic regression analysis was applied to identify independent risk factors of perioperative respiratory adverse events. Results: Among the 232 children included in the study, 28.0% (65/232) presented with a history of a recent URI within the last 2 weeks before anesthesia. The pre-sence of the recent URI increased the incidence of oxygen desaturation (23.1% vs.12.0%, P=0.034), copious secretions (15.4% vs. 6.6%, P=0.036) and any of all the adverse respiratory events (32.3% vs. 18.6%, P=0.024). Multivariate Logistic regression analysis identified two independent risk factors of perioperative adverse respiratory events: a history of URI within the last 2 weeks before general anesthesia (OR=2.021, 95%CI: 1.023-3.994, P=0.043) and habitual sleep snoring (OR=3.660, 95%CI: 1.517-8.832, P=0.004). Conclusion: A history of a recent URI within 2 weeks before general anesthesia was associated with a higher incidence of oxygen desaturation, copious secretions and the overall respiratory adverse events. For the children with recent URI, we recommend the general anesthesia and elective surgery should be postponed for at least 2 weeks after the URI.

Objective: To investigate the effect of myeloid-derived suppressor cells (MDSC) on pro-liferation of B lymphocytes in rheumatoid arthritis (RA) patients. Methods: The peripheral blood specimens were collected from 15 healthy adults and 38 RA patients who were divided into high disease activity group, medium activity group and low activity group according to their 28-joint disease activity score (DAS28). And the frequencies of MDSC were determined by flow cytometry. Then, B cells and MDSC were isolated by flow cytometry, respectively. B cells were labeled with carboxyfluorescein diacetate succinimidyl ester (CFSE) and then were co-cultured with MDSC in the presence of 3 mg/L anti-CD40 antibody and 10 mg/L CpG, for 3 days. Flow cytometry was performed to investigate the proliferation of B cells. Results: MDSC expanded markedly in high disease activity patients (7.13%±2.17%) compared with medium (5.35%±1.36%) and low disease activity patients (4.72%±1.08%) or healthy controls (4.79%±1.02%) (P<0.05), and there were no statistical differences between healthy controls, medium and low disease activity RA (P>0.05). Moreover, the frequencies of MDSC were positively correlated with the DAS28 (P<0.05). After co-culture, MDSC significantly promoted B cell proliferation (P<0.01). Conclusion: Our studies showed that MDSC expanded obviously in high disease activity RA patients, and their frequencies were positively correlated with the disease activities. Furthermore, MDSC could promote autologous B cell proliferation remarkably in vitro. These findings suggest that MDSC might be involved in RA pathogenesis through regulating B cell functions.

Objective: To explore the function of tumor derived IgG (tIgG) and whether the tIgG can inhibit T cells activity. Methods: The tIgG was purified from ovarian cancer tissue. The cord blood monocyte cells (CBMC) and cord blood lymphocyte (CBL) were isolate from human umbilical cord blood. The CBMC and CBL were stimulated with phytohaemagg lutinin (PHA) in order to let the CBMC and CBL in the state of proliferation. Carboxyfluorescein succinimidyl amino ester (CFSE) was cultured with CBMC and CBL. CFSE had no cell toxicity, which could penetrate through the cell membrane and combine the intracellular protein. The fluorescence intensity decreased with the proliferation of cells step by step, so the proliferation of these cells could be detected in flow ctytometry. The tIgG which was purified from ovarian cancer tissue was divided into three groups, 1 mg/L group, 10 mg/L group, and 100 mg/L group, and the intravenous immunoglobulin (IVIG) was also divided into three groups too. The CBMC and CBL were treated by tIgG with 1 mg/L, 10 mg/L, and 100 mg/L in order to observe the proliferation of T cells. The cells were treated with IVIG as a positive control group, and the cells were treated with phosphate buffer saline (PBS) as a negative control. The proliferation of CD4⁺ or CD8⁺ T cells were detected in CBMC and CBL. The proliferation of the T cells in CBMC and CBL after 64 h and 86 h were detected. Results: In the system of CBMC, the tIgG could suppress the proliferation of CD4⁺ or CD8⁺ T cells. The results could also be found in the system of CBL. The CD4⁺ or CD8⁺ T cells in the group which were treated with PBS were more active than those in the group which were treated with tIgG and IVIG. The suppression in the group which were treated with tIgG, was stronger than that in the group treated with IVIG. In addition, the suppression of T cells in the group which were stimulated with tIgG as 100 mg/L was more effective than that in the group which were stimulated with tIgG as 10 mg/L. This could prove that tIgG had the function of immunomodulation. Conclusion: The tIgG can be involved in immune escape of cancer.

Objective: To detect the levels of serum C-C chemokine ligand 19 (CCL19) in patients with systemic lupus erythematosus (SLE) and to evaluate the correlation between CCL19 expression and clinical features and laboratory parameters, trying to reveal the possible role of CCL19 in the pathogenesis of systemic lupus erythematosus. Methods: The levels of serum CCL19 were measured by enzyme linked immunosorbent assay (ELISA) in 90 patients with SLE and 30 healthy controls. These SLE patients included 75 patients who received treatment with glucocorticoids and disease-modifying anti-rheumatic drug (DMARD) and 15 patients without therapy. The frequencies of peripheral blood B cells and the B cell subsets were assessed in the patients with SLE by flow cytometry. The correlation between the clinical data, laboratory parameters, B cell subset frequencies and serum CCL19 levels were analyzed. Indepen-dent samples t test, paired t test, Pearson and Spearman correlation were used for statistical analyses. Results: The levels of CCL19 were markedly higher in the SLE patients without therapy and the patients with therapy than in the health controls[(596.25±409.19) ng/L and (422.90±395.84) ng/L vs. (157.79±125.23) ng/L, all P<0.001]. Serum CCL19 levels in the SLE patients without therapy were higher than the SLE patients who accepted glucocorticoids and DMARD treatment (P<0.05). The levels of serum CCL19 were positively correlated with anti-double stranded deoxyribonucleic acid (dsDNA), anti-nucleosome antibody (AnuA), IgA, IgG and IgM (r=0.38, P=0.007; r=0.332, P=0.029; r=0.519, P=0.007; r=0.461, P=0.018, respectively). Serum CCL19 levels in the SLE patients with photosensitivity, arthritis and secondary Sjögren’s syndrome were higher than the SLE patients without photosensitivity, arthritis and secondary Sjögren’s syndrome, respectively [(562.25±399.12) ng/L, (565.6±435.24) ng/L and (694.9±531.02) ng/L vs. (394.7±281.42) ng/L, (385.90±325.33) ng/L and (424.8±305.46) ng/L, all P<0.05]. The levels of serum CCL19 were positively correlated with the percentage of CD27-B cells and CD27-IgD-double-negative memory B cells (r=0.519, P=0.007; r=0.461, P=0.018, respectively). However, the levels of serum CCL19 were negatively correlated with the percentage of CD27⁺ memory B cells and CD27⁺IgD^- switched memory B cells (r=-0.433, P=0.027; r=-0.616, P=0.001, respectively). Conclusion: The increased serum CCL19 levels in SLE patients were associated with the production of autoantibodies, and CCL19 might be involved in the pathogenesis of SLE by disturbing the homeostasis of B cell subsets.

Objective: To investigate the common cause of spinal surgery in ankylosing spondylitis (AS) and to develop reasonable and effective treatment programs for rhematologists. Methods: In this study, 79 AS patients (72 males, 7 females) hospitalized in the Department of Orthopedic and received spinal surgery in Peking University Third Hospital from January 2007 to July 2013 were investigated retrospectively. The causes of the spinal surgery were analyzed. Results: The majority of the surgery were of cervical vertebra surgery for 59 cases (74.7%), followed by the thoracolumbar vertebra, thoracic vertebra, cervicothoracic vertebra, and lumbar vertebra. The common causes of AS spinal surgery were instability (53.2%) including fracture and dislocation caused by trauma mostly, followed by compression symptoms (34.1%). However, the orthopaedic surgery (12.7%) was not the predominant surgery causes. The most common cause of cervical surgery was cervical spondylosis (25 cases), followed by cervical fracture (22 cases) and cervical dislocation (10 cases). For cervical fracture, the most common site was C7 (8 cases). Atlanto-axial vertebral lesions (13 cases) induced by dislocation, subluxation, instability and fracture were common in cervical vertebra surgery. The age and disease duration of atlantoaxial surgical patient’s were less than other parts of the cervical surgery. Thoracolumbar vertebra surgery included thoracolumbar kyphosis orthopaedic surgery (10 cases), and fractures (6 cases), which mainly occurred in T11-12 vertebrae. According to the time of admission for surgery, the cases of AS that received spinal surgery were 34 from 2007 to 2008. The number of the cases that accepted the surgery decreased gradually year by year. Conclusion: The majority surgery section was cervical vertebra, and atlanto-axial vertebral lesions were not rare as we thought. The main etiology of spinal surgery for AS patients was instability, e.g. fracture and compression symptoms. Of course, trauma accounted for the relative percentage of this phetonomenon. Although, the annual number of patients who receives spinal surgery is decreasing, to go to make early diagnosis and treatment, and to standardize patient education for AS patients are still important.

Objective: To explore the potential of autologous dendritic cells (DCs) pulsed with caner/testis antigen NY-ESO-1 peptides in inducing specific cytotoxic T lymphocyte (CTLs) response and antineoplastic immune function of specific CTLs. Methods: Fifteen patients with Ⅱ to Ⅲ stage positive HLA-A0201⁺ and NY-ESO-1⁺ were enrolled in the Cancer Hospital Chinese Academy of Medical Sciences on the basis of preclinical experiments from November 2014 to October 2015, and their peripheral blood mononuclear cells (PBMCs) and peripheral blood lymphocytes (PBLs) were isolated. The PBMCs were induced into DCs and pulsed with NY-ESO-1 peptide. The phenotypes of DCs were stained with antibodies against HLA-DR⁺CD11c⁺,CD80⁺,CD83⁺ and CD86⁺, and subsequently analyzed by multichannel flow cytometry (FCM). The killing effects of CTLs pulsed with HLA-A0201-binding peptide NY-ESO-1 and the potential of autologous DCs pulsed with NY-ESO-1 peptides in inducing specific cytotoxic T lymphocytes (CTLs) responses were determined. The patients were administered two infusions of auto-logous CTLs for 1 time every two weeks. The total infusion was with 2 times. The immunological responses and clinical responses were examined in 1 week after the final administration. Results: The immunophenotype of DCs pulsed with NY-ESO-1 peptide was analyzed, HLA-DR⁺CD11c⁺ cells (93.6%±1.2%), CD80⁺ cells (87.3%±3.6%), CD83⁺ cells (82.8%±2.5%) and CD86⁺ cells (93.4%±6.4%). PBLs isolated from patients primed by DCs pulsed with NY-ESO-1 peptide proliferated continuously and the proliferation index (PI) of the PBLs were analyzed. There was significant difference between the DCs loaded with polypeptides and those unloaded, though it could promote the proliferation of PBLs, but the PI was significantly lower than that of the DCs loaded with NY-ESO-1 peptide (P<0.05). The average percentage of special CTLs primed by DCs pulsed with NY-ESO-1 peptides was significantly higher than that in the control group (5.2%±1.2% vs. 0.4%±0.1%). CTLs induced by NY-ESO-1 pulsed DCs exerted a stronger killing effect on T2 cell line pulsed with NY-ESO-1 peptide than that in the control group at the ratio of E (effect) to T (target) as 30︰1, P<0.05. The cytokine levels in the patients’sera such as IFN-γ, IL-2 and IL-12 were increased after treatments [(132.9±10.2) μg/L vs. (46.4±3.1) μg/L; (101.3±6.4) μg/L vs. (26.7±1.2) μg/L; (51.3±2.6) μg/L vs. (26.4±1.1) μg/L; all P<0.05], and the percentages of antigen-specific CD8⁺IFN-γ⁺ increased in these patients (P<0.01). Conclusion:Auto-DCs pulsed with NY-ESO-1 peptides can induce the proliferation of allogenic CTLs, which elicit specific immune responses ex vivo or in vivo, and boost anticancer immunity markedly.

Objective: To investigate the early clinical treatment and prognosis of multi-segment in-tramedullary cervical ependymoma. Methods: Twenty patients with multi-segment (more than 3 segments) intramedullary spinal ependymoma (McCormic grade Ⅰ) were microsurgically treated with assistance of intraoperative neuroelectrophysiological monitoring. None of them received postoperative radiotherapy. Preoperatively all the patients underwent MRI examination and their neurologically function was assessed by McCormic classification method. They were followed up for an average of 2.7 years (The follow-up ranged from 3 months to 4 years). All the patients underwent review of the MRI examination and their postoperative neurological function was assessed by McCormic classification method again. Evaluation was accomplished according to the results of the follow-up. Results: All tumors were intramedullary. The length of the tumor body varied from 3 to 8 vertebral segments with an average of 4.2 vertebral segments. Gross total removal was achieved in all the 20 patients through one-stage operation. The pathology of these patients was ependymoma (WHO grades Ⅰ to Ⅱ). Two cases were lost during the follow-up due to the change of contact, but the hospital records of them showed that they recovered well at discharge. Eighteen cases were followed up constantly after operation. A case which ran through the whole cervical spinal cord had short-term mild motor dysfunction after operation, which manifested as weakness of the left side muscle strength to grade Ⅳ (which recovered to grade V during the follow-up period). Resultsof the follow-up showed that these 18 patients recovered well. Preoperative symptoms, such as limb numbness and painness were significantly alleviated. There was no obvious motor dysfunction. The bowel and bladder function of these 18 patients were almost normal. The McCormic scores of these 18 patients remained in grade Ⅰ. No recurrence was found on review of the MRI examination. The main complications were a certain degree of deep sensory disturbance of lower extremities. The operation did not significantly affect the patient’s life and work. Conclusion: Aggressive surgical therapy is a good treatment strategy for early multi-segment intramedullary cervical ependymoma. There is nearly no recurrence after operation and no postoperative radiotherapy is needed after gross total removal of tumors.

Objective: To compare the difference between non-operative and operative treatment of humeral shaft fractures. Methods: From March 2005 to October 2012, 252 cases of humeral shaft fractures were treated and were adequately followed up. According to the treatment methods, the patients were divided into 2 groups: the non-operative group and the operative group. In the non-operative group, there were 76 cases treated with plaster/small splint fixation,meanwhile there were 176 cases treated with internal fixation either by plating or by nailing in the operative group. The follow-up parameters included: fracture healing rate, fracture union time, complications rate, Constant- Murley shoulder score and Mayo elbow score. Results: The mean follow-up period was (31.24±20.06) months (ranging 6 to 103 months). There were no statistical differences in age, open fracture number, fracture site and Arbeitsgemeinschaft für Osteosynthesefragen (AO) classification between the non-operative group and the operative group. The fracture healing rate: the non-operative group: 96.1%(72/76), the operative group: 97.7%(172/176), P=0.46; the fracture union time: the non-operative group: (10.24±2.93) weeks, the operative group: (10.69±2.51) weeks, P=0.22; the complication rate: the non-operative group: 5.3%(4/76),the operative group: 15.3%(27/176), P=0.03. The complications included: nonunion: the non-operative group: 3.95%(3/76), the operative group: 2.3%(4/176), P=0.434; radial nerve palsies: the non-operative group: 0%(0/76), the operative group: 5.7%(10/176), P=0.035; bone split: the non-operative group: 0%(0/76), the operative group: 1.7%(3/176), P=0.556; elbow stiffness: the non-operative group:1.3%(1/76), the operative group: 0.6%(1/176), P=1.000; shoulder pain: the non-operative group:0%(0/76), the operative group: 5.1%(9/176), P=0.061. The Constant-Murley shoulder score: the non-operative group: 97.37±4.94, the operative group: 96.34±6.88, P=0.244. The Mayo elbow score: the non-operative group: 99.80±1.72, the operative group: 99.49±2.73,P=0.923. Conclusion: The results of non-operative treatment of humeral shaft fractures appeared with excellent results with lower complications rate compared with that of the operative treatment.

Objective: To describe long-term results of locking plate used for the treatment of non-osteoporotic fresh three- and four-part proximal humeral fractures with at least 2 years follow-up. Methods: The functional outcomes and the complications of non-osteoporotic three- and four-part fresh proximal humeral fractures treated with locking plate were assessed retrospectively. The active range of motion, the Constant score, the University of California at Los Angeles (UCLA) shoulder score, the visual analogue score (VAS) were employed to evaluate the postoperative shoulder function, and the radiographic images were taken to evaluate the neck-shaft angle of the proximal humeral and postoperative implant-related complications. Results: From January 2007 to October 2014, 107 consecutive fresh three- and four-part non-osteoporotic fresh proximal humeral fractures were treated with a locking plate in our department. Among them, 67 patients completed at least 2 years follow-up. The average follow-up time was (43.9±23.3) months (range: 24-108 months). The mean Constant score was 87.1±11.7 (range: 51-100), the mean UCLA score was 30.5±3.9 (range: 18-35), the mean VAS score was 1±2 (range: 0-7). The mean active forward flexion was 159.0°±19.3° (range: 80°-180°), the mean external rotation was 36.8°±19.5°(0°-80°) and the mean internal rotation was T11 level (T2-LS level). There were 11 patients who suffered from complications. Screw perforations were observed in 5 (7.5%) patients, avascular necrosis of the humeral head was observed in 9 (13.4%) patients and traumatic osteoarthritis was observed in 5 (7.5%) patients. Six patients showed two or more complications. There was no significant difference in outcomes when comparing the patients with three-part fractures (31 patients) with those with four-part fractures (36 patients). The rates of complications and avascular necrosis were significantly higher in the four-part fracture group than in the three-part fracture group. Conclusion: The locking plate is an effective method in treating three- and four-part non-osteoporotic fresh proximal humeral fractures. Strict surgical indication and precise surgical skill are the key points for successful treating non-osteoporotic fresh proximal humeral fractures. There is a higher rate of complications and avascular necrosis of the humeral head in the four-part fractures than in the three-part fractures.

Objective: To perform unilateral patellar resurfacing and contralateral patellar retention in bilateral total knee arthroplasty (TKA) randomly, and to compare the clinical effects of patellar retention with patellar resurfacing in TKA. Methods: In the study, 14 bilateral knee osteoarthritis (OA) patients were randomized in the bilateral TKA to receive unilateral patellar resurfacing and contralateral patellar retention, including 28 knees, all were females, 53 to 78 years old, with average (66.9±7.8) years, and the BMI was (26.3±1.8) kg/m². All subjects were followed up from 3 to 12 months. The clinical effects were evaluated based on measurements of American Knee Society score (KSS), range of motion (ROM), anterior knee pain, patellar clunk, and patellar tilt angle (PTA). Results: All the wounds healed primarily without significant complications, such as infection, aseptic loosening, patellar fracture and so on. The preoperative KSS scores of patellar resurfacing group were 38.9±22.2, and the scores changed to be 92.4±6.7 after operation, which were added by 53.5±20.3. While in the patellar retention group, the KSS scores were 38.4 ± 20.5 preoperatively, and after operation, which were added to be 92.1±4.2, and improved by 53.7±21.4. The differences in the changed KSS scores between TKA with and without patellar resurfacing were not statistically significant (Independent t-test, P=0.98). The ROM was changed from 95.4°±13.5° preoperatively to 120.4°±8.9° postoperatively in the patellar resurfacing group and from 92.9°±19.1° preoperatively to 120.4±8.4° postoperatively in the patellar retention group. The ROM of the two group were increased by 25.0°±14.5° and 27.5°±19.4° respectively. However, no remarkable differences were observed between the 2 groups in the knee ROM (Independent t-test, P=0.70). At the end of the latest follow-up, 3 knees in the patellar resurfacing group and 2 knees in the patellar retention group had knee anterior pain, the incidences of anterior knee pain were 21.4% and 14.3% respectively. There was no obvious difference for the incidence of post-operative anterior knee pain (Chi-square test, P=0.62). The incidences of post-operative patellar clunk in the 2 groups were all with 3 knees (21.4%), which had no significant difference in the 2 groups (Chi-square test, P=1.00). The post-operative PTA were 2.6°±2.6° in the patellar resurfacing group and 3.6°±2.9° in the patellar retention group, respectively. There was also no statistical difference between the 2 groups (Chi-square test, P=0.36). Conclusion: For knee OA patients with mild or moderate patellar cartilage damage, performing patellar resurfacing or not didn’t significantly affect anterior knee pain, patellar clunk, functional outcomes or patellar tracking after TKA. So we suggest retain patella in TKA for OA patients with mild or moderate patellar cartilage damage.

Objective: To summarize our experience of retroperitoneal laparoscopic living donor nephrectomy, our continuous technical improvements and refinement of this skill and standardization of each procedure of this operation. Methods: Having approved by hospital ethical committee and local government administration, a total of 193 living donors underwent retroperitoneal laparoscopic living donor nephrectomy from Dec.2003 to Feb.2016 in our department. Under general anaesthesia, the operation was performed through 3 lumbar ports. After the kidney was liberated fully and the ureter was severed 7-8 cm under the lower pole of the kidney, the renal artery and vein were blocked with endo-cut or hem-o-lok separately and then severed. Then the kidney was taken out quickly and flushed with 4 ℃ kidney preserving fluid immediately, the donor kidneys were then preserved in iced saline until kidney transplantation. Clinical data about operation time, volume of blood loss, perioperative complications, renal function of both donors and recipients before and after operation were collected. Results: The 193 retroperitoneal laparoscopic living donor nephrectomy operations were successful with only one operation was converted to open living donor nephrectomy because of hemorrhage and unclear operation field during the operation. The average operation time was 85 min (55-135 min), the average blood loss was 60 mL (20-200 mL), and no donor needed blood transfusion during or after operation. Three donors were found to have hematoma of renal fossa after operation and none of them required further treatment. The average hospital stay after operation was 5.7 days (4-9 days). In the study, 162 donors were followed up for an average of 42 months (1-58 months) and they were all healthy. Two kidney recipients had urinary bladder anastomosis leakage after operation and both needed surgical repair, a new anastomosis of ureter and bladder were made. Three kidney recipients had kidney subcapsular hematoma but required no further treatment. One kidney recipient had delayed graft function and recovered finally and the renal function of other recipients were all normal. Renal function of both donors and recipients during the follow up period were normal. Conclusion: Retroperitoneal laparoscopic living donor nephrectomy is a safe and reliable technique, it may become a standardized operation for living kidney transplantation after continuous technical improvement. Precautions must be taken to avoid complications and a skilled hand is necessary for success.

Objective: To analyze the role of acetylsalicylic acid (ASA) in immunomodulation of me-senchymal stem cells derived from gingiva (GMSCs), and to explore the role of ASA in enhancing the immumomodulation of GMSCs and the capacity of GMSCs to treat immune disorders and the underlying mechanism. Methods: Flow cytometry analysis were used to analyze the role of ASA in the expression of stem cells surface markers CD146, CD105, CD90, CD34 and CD45 in GMSCs,and the GMSCs proliferation was analyzed by 5-bromo-2-deoxyuridine (BrdU) staining and 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay. The GMSCs and T cells co-culture system was established to analyze the role of ASA in immunomodulation of GMSCs by measuring T cell apoptosis using flow cytometry analysis and inflammatory cytokines using enzyme linked immunosorbent assay (ELISA). Further more, the dextran sulfate sodium (DSS) induced colitis mouse model was established and the mouse body weight, disease activity score, histological index and pathological change of colons were analyzed after GMSC infusion. Results: The proliferation of GMSCs and the expressions of CD105, CD146 in GMSCs were increased after ASA treatment. In the GMSCs and T cells co-culture system, GMSCs induced T cells apoptosis and inhibited interferon γ (IFN-γ) and tumor necrosis factor α (TNF-α) secretion by T cells, which were enhanced by ASA treatment. In vivo, GMSCs infusion could ameliorate DSS-induced colitis, including inhibited DSS-induced mouse body weight loss, decreased disease activity score and histological index, and decreased inflammation cells infiltration in colons, as shown by hematoxylin-eosin (HE) staining. Moreover, the therapeutic effects of GMSC infusion on DSS-induced colitis could be enhanced by ASA treatment. Mechanically, ASA treatment increased FasL expression of Fas/FasL death pathway in GMSCs to induce T cells apoptosis. Conclusion: ASA enhanced immunomodulation of GMSCs and increased the capacity of GMSCs to ameliorate DSS-induced colitis in mice.

Objective: Three-dimensional reconstruction of the enhanced CT is increasingly becoming a valuable tool in head and neck neoplasms. The aim of this study is to reconstruct three-dimensional imaging of tumor and its surrounding important anatomical structure using iPlan CMF software, and to investigate the application of three-dimensional tumor mapping technique for the diagnosis and treatment of the head and neck neoplasms. Methods: In the study, 13 cases with head and neck tumors in Department of Oral and Maxilloficial Surgery, Peking University School and Hospital of Stomatology from June 2014 to June 2015 were studied using spiral CT scanning technology based on the same scanning condition. iPlan CMF software was used to read the original CT data, and surface shaded technology was applied to reconstruct the spatial relationship of the tumor, vessel and skull. The distance between the tumor and its surrounding important anatomical structure could be measured. iPlan CMF software was also used to accomplish the virtual osteotomy to expose the tumor, vessel and skull. The preoperative preparation, operative situation and postoperative complication were reviewed. Results: In this study 6 patients were male and 7 female. The age range was from 23 to 65 years, and the median patient age was 50 years. The three-dimensional reconstruction image clearly demonstrated the extent of the tumor size, location, and the relation to its surrounding important anatomical structure. According to the three-dimensional image, the surgical risk of the patients was evaluated. The preoperative preparation and surgeries were successfully performed for 10 patients. Blood transfusion for 3 patients was considered before the surgery and actually accomplished during the operation. The operations for 2 patients were performed with the help of doctors from other departments. Only one patient had hoarseness because the tumor resulted from the pneumogastric nerves. For 10 patients, the average operation time was (202±135) min, and the average operation bleeding was (235±252) mL. The other 3 patients were not suitable cases for surgery. Conclusion: The three-dimensional reconstruction of enhanced CT image with iPlan CMF software is very helpful to make the treatment plan to avoid damaging important anatomical structures and postoperative complications.

Objective: To investigate the clinical usefulness of echocardiography in the diagnosis of infracardiac total anomalous pulmonary venous connection (ITAPVC) in neonates and infants. Methods: Retrospective analysis on 8 patients with ITAPVC was performed using echocardiography between April 2006 and December 2016. There were 4 boys and 4 girls with a mean age of 79.8 days (ranging from 15 to 195 days). A combined scanning via parasternal, subcostal and apical acoustic windows had been employed to diagnose ITAPVC and to trace the course and site of the anomalous pulmonary venous drainage, and to confirm the direction of the inter-atrial shunt and enlargement of right atrium and right ventricle. Results: Of the 8 patients who received echocardiography, ITAPVC was diagnosed in 7 patients. Mis-diagnosis by echocardiography was encountered in one patient. The diagnosis by echocardiography was compatible with the operative findings in 5 patients receiving surgery and with the results of multislice computed tomography in 6 patients. The diagnostic accuracy rate of ITAPVC was 87.5%. The indirect signs obtained from echocardiogram was coexistence of a small malformed, triangle-shaped left atrium and right to left shunting at atrial level with dilatation and tortuousness of portal vein or hepatic vein and abundant blood flow in liver. The direct signs was total pulmonary veins unconnected with left atrium, whose confluence joining into vertical vein drained right-inferiorly to portal vein or hepatic vein through diaphragm. Three parallel vessels including vertical vein, abdominal aorta and inferior vena cava arranged anteriorly, left-posteriorly and right-posteriorly with the opposite flow directions of inferior vena cava and the other two were found on sub-costal view. Sites of the drainage to the infra-diaphragm veins located portal vein in 8 patients. Stenosis of site of vertical vein connecting to portal vein or hepatic veins occurred in 3 patients. Conclusion: Echocardiography has significant value in the diagnosis of pediatric ITAPVC and is capable of providing important structural and hemodynamic information for preoperative assessment of surgery. With multiple windows and multiple sections, ITAPVC could be diagnosed accurately by echocardiography. However, it is necessary to differentiate ITAPVC with intrahepatic portosystemic venous shunts or hepatic arteriovenous fistula.

Objective: To compare the feasibility and prognosis of different surgical methods used for vesicovaginal fistulas and to explore the value of electrocoagulation treating small ones. Methods: The medical data of 19 patients who had undertaken transvaginal VVF repairs in Peking University People’s Hospital between October 2008 and November 2016 were retrospectively collected. The follow-ups were performed.The patients’ age ranged from 31 to 55 years with the median age of 48 years and the history length ranged from 1 month to 24 months with the median length of 3 months. Their fistula situation, surgical methods and prognosis were analyzed and the differences and similarities were compared. Results: Three patients (15.79%) was performed by electrocoagulation, 4 (21.05%) by transvaginal repair, 5 (21.32%) by laparoscopic repair and 7(36.84%) by open operation. Except one patient who rejected urinary catheter and D-J catheters, the rest of the patients discharged with catheters. Twelve patients (63.2%) got full satisfaction with one operation. One of the 3 patients who undertook electrocoagulation repeated the operation for twice and got completely cured within 1 month while the other two undertook the operation once and got dry within 1 month. Three patients who undertook transvaginal repair got dry within 1 month. Two of the 5 patients who undertook laparoscopic repair had readmission for a second operation and the other 3 got dry after operation. Five of the 7 open repair patients got dry while the other 2 attempted other center for treatment. Conclusion: Transvaginal repair has been the main surgery procedure for VVF, but it is limited by the location of fistula and the condition of vaginal. For patients not suitable for transvaginal repair, laparoscopic repair and open surgery are feasible. However both laparoscopic repair and open surgery are more invasive. Based on that, electrocoagulation becomes a better choice. In our research, patients with small and high location fistula treated by electrocoagulation got a higher cure rate and bear less surgical trauma. Electrocoagulation used in the treatment of VVF showed advantages of less trauma, less bleeding and better satisfaction. Fistulas with low location were more suitable for transvaginal repair. Complex VVF, especially with narrow ureteral open and ureteral fistulas, were more suitable for open and laparoscopic repair. As for single and small fistula, the electrocoagulation can be the first choice.

Objective: To compare the differences of anatomical and histological characteristics of lymph nodes between BALB/c nude mice and BALB/c mice. Methods: Firstly, twenty BALB/c nude mice and twenty BALB/c mice were dissected by using a surgical microscope. Secondly, the differences of T cells and B cells at the lymph node were compared by the expressions of CD₃ and CD₂₀ immunohistochemistry dyes. Results: There were, on average, 23 nodes per mouse contained within the large lymph node assembly in the BALB/c nude mouse. The anatomical features of the lymph node distribution in the nude mice were mainly found in the neck with relatively higher density. There were two lymph nodes both in the submandible lymph nodes group and in the superficial cervical lymph nodes group (the constituent ratios were 95% and 90%, respectively) in the BALB/c nude mice, but there were four lymph nodes (the constituent ratios were 95% and 90%, respectively) in the BALB/c mice. There were significant difference between the BALB/c nude mice and the BALB/c mice. Mostly there were two lymph nodes of deep cervical lymph nodes both in the BALB/c nude mice and the BALB/c mice (the constituent ratios were 95% and 100%, respectively). There were no significant difference between the BALB/c nude mice and the BALB/c mice. We confirmed that the number of CD₃-positive T lymphocytes in lymph nodes of the nude mice decreased greatly as compared with the BALB/c mice. Expressions of CD₃ in T cells were 95% and 100% in the BALB/c nude mice and in the BALB/c mice, respectively. There were significant differences between the BALB/c nude mice and the BALB/c mice. Expressions of CD₂₀ in B cells were 95% and 100% in the BALB/c nude mice and in the BALB/c mice, respectively. There was no significant difference between the BALB/c nude mice and BALB/c mice. Conclusion: The anatomical pictures of lymph node distribution in the nude mouse will be benefit to those who are interested. The anatomical features of the lymph node local higher density in neck of the nude mouse and lack of CD₃-positive T lymphocytes would be useful for obtaining a better understanding of localized lymph node metastasis of oral transplant tumors.

SUMMARY To explore the clinical and genetic characteristics of Williams-Beuren syndrome (WBS) and to raise awareness of the disease. The characteristics of clinical manifestations, personal history, cardiac ultrasound, brain magnetic resonance imaging (MRI), electroencephalogram (EEG) and chromosome detection results of two cases with WBS were analyzed. The two patients were both male and the age was 11 months and 1 day, and 9 months and 9 days, respectively. They both suffered from cardiovascular malformation: case one presented supravalvular aortic stenosis, and case two showed atrial septal defect and patent ductus arteriosus. Both of the cases were exhibited characteristic facial features of WBS, including full orbital, spherical nose, flat nasal bridge, long philtrum and thick lips. For the mental deve-lopment, case one displayed moderate to severe developmental retardation, and case two showed severe developmental retardation. In addition, case one presented bilateral indirect inguinal hernia and hydrocele, and case two manifested feeding difficulties, buried penis and infantile spasms. Personal history: case one’s mother had tocolytic therapy during pregnancy period, and case one was born at full-term by cesarean section due to amniotic fluid pollution. Supplementary examination: brain MRI of the two cases were no significant abnormalities, the EEG of case two showed hypsarrhythmia, and the epileptic spasms were recorded. Chromosome detection results: case one was identified as 7q11.23 deletion including the fragment deletion mutation of elastin (ELN) gene by multiplex ligation dependent probe amplification method, and case two was found with 7q11.21q11.23 deletion by high resolution G-band method. The two cases with WBS both had cardiovascular malformations, special facial features, mental retardation and connective tissue or urinary system abnormality. The supravalvular aortic stenosis of case one may be associated with the deletion of ELN gene, and the occurrence of epilepsy of case two may be related to the q11.21 deletion beyond the 7q11.23 region.

SUMMARY Dysembryoplastic neuroepithelial tumor (DNT) has traditionally been viewed as rare benign tumors that present with seizure widely considered curable with surgery alone. Most DNTs occur in childhood and young adults. However, rare reported cases occur in infants. This paper reported an infant case of DNT and its diagnosis, differential diagnosis, treatment, molecular features and prognosis based on the review of current literatures. The age onset of this patient was only 11 months old. The clinical manifestations were partial seizures and the imaging data untypical;CT and MRI were all supportive of astrocytoma. Typical glioneuronal element histologic features could be seen, which contained oligodendrocyte-like cells attached to bundles of axons and neurons floating in a myxoid interstitial fluid. Meanwhile, some atypical regions could also be seen. These atypical regions showed a mixture of oligodendrocyte-like cells and neurons without a myxoid interstitial fluid, which were easily misdiagnosed. The BRAF^V600E mutation was not detected. This patient had a good response to drug therapy. Totally surgical resection of the tumor was conducted. The patient had been seizures free for 6 months. In conclusion, DNT is a rare and well prognostic tumor (WHO grade Ⅰ), which most often arise in children in the setting of medically refractory epilepsy. The most common tumor location was temporal. Because clinical symptoms, imaging and histological features of DNT and other low-grade gliomas broadly overlap such as ganglioglioma, pilocytic astrocytomas and oligodendroglioma et al., differential diagnosis should be made carefully. The glioneuronal element was the histopathological hallmark of DNT. In addition, some untypical regions should also be called attention. Although BRAF^V600E mutation didn’t exist in this case, it played a role in differential diagnosis because it has been previously recorded that BRAF^V600E mutation was a common feature of DNT. Infant patients have their own characteristics. For example, drug therapy worked well and the imaging data was untypical. Doctors should improve the understanding of this disease to avoid unnecessary radiothe-rapy or chemotherapy.

SUMMARY Interstitial lung diseases (ILDs) are a diverse group of pulmonary disorders characterized by various patterns of inflammation and fibrosis in the interstitium of the lung. The underlying pathogenesis of ILDs is complex and associated with multiple rheumatologic conditions, such as systemic sclerosis, rheumatoid arthritis, pollymyositis and dermatomyositis, Sjögren’s syndrome, and systemic lupus erythematosus. As the disease progresses, excessive pulmonary fibrosis impairs alveolar gas exchange and damages pulmonary function. The common methods to diagnose ILDs, such as clinical manifestations, pulmonary function test, and radiological examinations are not specific for ILDs and not able to diagnose ILDs at the early stage due to their low sensitivity. So, the easy way is important to diagnose ILDs. One important biomarker for ILDs is the high-molecular-weight glycoprotein, Krebs von den Lungen-6(KL-6). KL-6 encoded by the MUC1 gene is a mucin-like glycoprotein with high molecular weight and expressed predominantly on the cell surface of type Ⅱ alveolar epithelial cells, and is detectable in the serum of patients with ILDs. We here report a case of ILDs associated with dermatomyositis and secondary Sjögren’s syndrome. A 60-year-old woman was admitted to our hospital with the chief complaints of debilitation, dry mouth, dyspnea and astasia. ILDs associated with dermatomyositis and secondary Sjögren’s syndrome was diagnosed clinically when the following criteria were satisfied: (1) development of dyspnea within 2 months of presentation, (2) pulmonary dispersion dysfunction, (3) bilateral infiltrative shadows on chest high resolution computed tomography (HRCT). She was treated with prednisone 50 mg/d prior to admission, but the result of therapy was not good. In our hospital she was treated with intravenous methylprednisolone and cyclophosphamide and oral hydroxychloroquine sulfate. Subsequently, her serum KL-6 levels gradually decreased after treatment, pulmonary diffuse function improved, and the improvement in the clinical manifestation and HRCT findings were observed. Nevertheless, the combination treatment of glucocorticoid and cyclophosphamide had contributed to the favourable outcomes. In conclusion, detection of serum KL-6 levels in ILDs associated with connective tissue diseases may be be-neficial to making a definitive diagnosis, predicting the prognosis and monitoring the disease activity, which would be of great help in clinical practice. However, a well-designed clinical study with more patients and a longer follow-up period are required to arrive at a more conclusive judgment on the role of serum KL-6 in patients with ILDs.

SUMMARY Anti-neutrophil cytoplasmic antibodies (ANCA)-associated vasculitis (AAV) is usually a multisystem disorder, and pulmonary renal syndrome is a common presentation. Patients with AAV are less likely to experience relapse when they progress to end-stage renal disease (ESRD). We report a rare case of diffuse alveolar hemorrhage (DAH) in relapsing AAV after eight years of haemodialysis. A 58-year-old woman was admitted to our hospital with the chief complaints of dyspnea and hemoptysis accompanied by anemia, fever, fatigue, and weight loss. She had elevated anti-myeloperoxidase (MPO) titer. The computer tomoghraphy showed diffuse alveolar hemorrhage. After the recurrent episode of AAV was diagnosed, she underwent the following therapy: Plasmapheresis was initiated within 24 h after admission, 3 000 mL of plasma was removed per session, and the anticoagulation of citrate was applied during plasmapheresis. Five plasmapheresis treatments were performed, and after three apheresis sessions, the pulmonary hemorrhage ceased. Other treatments included a methylprednisolone bolus, tapered to oral prednisone and cyclophosphamide. Regular hemodialysis was scheduled. These treatments resulted in resolution of the inflammatory symptoms, DAH improved. Her anti-MPO level decreased. The patient was discharged in good condition. AAV with DAH is usually acute at the onset and is generally a condition with high morbidity and substantial mortality. Therefore, prompt diagnosis and aggressive treatment are needed to improve survival.

SUMMARY Ewing’s sarcoma/primitive neuroectodermal tumor (EWS/PNET) in the kidney is a rare but high-grade malignant tumor that affects predominantly elder children and adolescents. Patients mostly present with nonspecific symptoms such as abdominal pain and gross hematuria. Since EWS/PNET has a rapid clinical progression with early metastasis and death, it is essential to make an accurate and early diagnosis. Once diagnosed, multimodality treatment, including radical surgery combined with adjuvant chemotherapy, and radiotherapy if necessary, is recommended. Unfortunately, there are no characteristic signsthat have been described in ultrasonography or any other imaging modalities so far. The diagnosis of EWS/PNET is now based on a classical histological and immunohistochemical investigation complemented by a demonstration of specific chromosomal changes. Strong immunoreactivity to CD99 is ubiquitous, and t(11;22) translocation is seen in approximately 90% of EWS/PNET. Herein, we report a patient with such condition. The patient was a young woman, and she presented with sudden right flank pain clinically. Ultrasonography revealed a large heterogeneous mass in the lower pole of her right kidney. The tumor compressed the renal pelvis and led to upper pole caliectasis. Color Doppler demonstrated blood flow with a pulsatile arterialized waveform within the mass. The patient received radical nephrectomy with right renal vein and vena cava thrombectomy. A search for other sites of tumor involvement yielded negative results. And six cycles of chemotherapy were sequentially performed. The diagnosis of EWS/PNET was confirmed based on primitive small round cell histology and characteristic immunohistochemical results. She was still alive with no evidence of recurrence five years after initial diagnosis. We would like to point out that ultrasound is still a useful method for initial assessment, and ultrasound-guided fine needle aspiration may play an important role in determining preoperative diagnosis.