Objective To evaluate the treatment effect of balloon angioplasty and cryoplasty on iliac artery stenosis in canine model.Methods Canine models of iliac artery stenosis were established with surgical ligation and transfixion.Models were randomly divided into two groups:iliac artery stenosis treated by cryoplasty (n =8) and by balloon angioplasty (n =8).The degree of iliac artery stenosis of two model groups was assessed by digital subtraction angiography (DSA) immediately and two weeks after the angioplasties.Then all the dogs were executed for pathological observation of the target vessels.Results Sixteen canine models of iliac artery stenosis were established by surgical ligation and transfixion method with 100％ success rate.DSA showed there was (45 ± 12)％ of residual artery stenosis in the cryoplasty group immediately after surgery,while it was (39-12)％ in the balloon angioplasty group,and there was no significant difference between them(t =3.183,P ＞ 0.05).The artery stenosis of cryoplasty group was (48 ± 17) ％ after two weeks and not significantly different from that after surgery immediately (t =-1.271,P ＞ 0.05).The artery stenosis of balloon angioplasty group was (67 ± 13)％ after two weeks,and it was significantly higher compared with at after surgery immediately (t =-6.666,P ＜ 0.01).The degree of vascular stenosis in balloon angioplasty group was severer than that in cryoplasty group two weeks after angiography(P =0.041).The pathological examination showed artery intimal hyperplasia in cryoplasty group was milder than that in balloon angioplasty group and neointimal content of collagen in cryoplasty group was less than that in balloon angioplasty group.Conclusions The animal models of iliac artery stenosis were established successfully with surgical ligation and transfixion by damaging the intima and media of arterial wall.Compared with balloon angioplasty,the cryoplasty was able to inhibit proliferation of intimal and reduce collagen synthesis to prevent the iliac artery restenosis.

Objective:To analyze the clinical characteristics and diagnosis and treatment of children with Kasabach-Merritt phenomenon (KMP).Methods:A retrospective analysis was conducted on the clinical data and follow-up data of 8 patients diagnosed KMP in Beijing Children′s Hospital, Capital Medical University from January 2016 to January 2019.The clinical data included laboratory examination, diagnosis, treatment and prognosis.Results:Among the 8 children with KMP, 6 cases were male and 2 cases were female.The median onset age was 4 (0-17) months, 2 cases of neonatal onset.The median onset to the diagnosis time was 59 (34-140) days; 6 cases with bone destruction; 6 cases had misdiagnosis and mistreatment history, they were misdiagnosed as idiopathic thrombocytopenic purpura, Evans syndrome, abnormal bone and joint development; 4 cases were Kaposiform hemangioendothelioma; 8 cases were used alone or combined with the application of hormones, Sirolimus, and Vincristine, 7 patients underwent interventional therapy.All patients survived with a median follow-up period of 487 (112-1 033) days.Median time of platelet count returned to normal was 24.5 (7-60) days, and median time of fibrinogen returned to normal was 20 (7-30) days.Median time of D-dimer dropped to a normal was 105 (40-240) days.Conclusions:Children with concurrent platelet count and coagulation abnormalities should be considered with KMP.Doctors need to identify the potential visceral vascular lesions.Early diagnosis and treatment are important, which can improve the clinical prognosis of patients.

The clinical and laboratory data of a patient with chronic refractory immune thrombocytopenia (ITP) who had a significant increase in the proportion of inhibitory T cells in the hematological oncology center of Beijing Children′s Hospital Affiliated to Capital Medical University in February 2018 and regularly followed up in the outpatient department received a retrospective analysis.This 8-year-old patient′s clinical features were 6 years of skin and mucous membrane bleeding spots and petechiae recurring, with occasionally nasal epistaxis.Physical examination: cardiopulmonary abdomen and nervous system examinations are normal, and no superficial lymphadenopathy is touched.Blood routine indicated that the platelets were 2.00×10 9/L, and white blood cell count and hemoglobin level were normal.Bone marrow suggested that hyperplasia was significantly active, with more than 300 megakaryocytes.The patient was diagnosed with ITP, and he was treated with first-line treatment with gamma globulin and oral Corticosteroids.The first-line treatment with high-dose Dexamethasone therapy was repeated, and the second-line treatment was low-dose Rituximab combined with high-dose Dexamethasone.Evaluations had been conducted with every relapsed course, and Cyclosporine was administered orally on the basis of the highly suppressive T cells.After half a month, the child achieved partial remission and continued for 3 months, and then reached a complete remission of 6 months (till this paper). It is suggested that, with ITP as an immunological disease with high heterogeneity, the immune abnormality index is expected to become a breakthrough in the development of precise treatment.

Objective: To compare the efficacy and safety of short course and high-dose Dexamethasone (HDD) and conventional Prednisone as first-line strategy for children newly diagnosed as primary immune thrombocytopenia (ITP). Methods: This study analyzed pre-experimental data of a single center prospective randomized controlled clinical trial.Newly diagnosed but untreated ITP patients enrolled at the Department of Blood and Cancer Center, Beijing Children's Hospital, Capital Medical University from November 2016 to May 2017 were randomized into HDD group[Dexamethasone 0.6 mg/(kg·d), intravenous injection for 4 days]and Prednisone group[Prednisone 2 mg/(kg·d) for 14-28 days and then tapered within 1-2 months, the course of treatment less than 3 months]. Initial response, sustained response and adverse effects after therapy were observed in 2 groups. Results: Sixty-six children with ITP were included in the study: 32 patients were in the HDD group and 34 patients were in the Prednisone group.Two groups were matched in the baseline characteristics including gender, age, platelet counts and disease course before therapy and bleeding assessment (all P>0.05). The initial response (the response of HDD group within 10 days of treatment and Prednisone group within 28 days of treatment): overall initial response had no statistical difference between the HDD group and the Prednisone group[90.6%(29/32 cases) vs.100.0%(34/34 cases), χ²=1.528, P>0.05]. HDD group had a lower incidence of complete response compared with that in the Prednisone group[54.4%(19/32 cases) vs.94.1%(32/34 cases), χ²=11.330, P=0.001]; median time of response in two groups showed no statistically difference (2 d vs.1 d, Z=-0.149, P>0.05). There was no significant difference in the recovery of skin and mucosal bleeding after treatment between the Dexamethasone group and the Prednisone group (Z=-1.413, -1.031, all P>0.05). The sustained response (the response lasted for up to 6 months and above): overall and complete sustained response had no statistically difference between the HDD group and the Prednisone group [92.9%(26/28 cases) vs.85.3%(29/34 cases), P=0.594; 78.9% (15/19 cases) vs.81.3%(26/32 cases), P=1.000]. Log-rank test showed no significant difference in the duration of response between 2 groups (P=0.341). The side effects in the Prednisone group included weight gain or Cushing sign (94.1%) and mental and emotional changes (23.5%); in the HDD group 15.6% of children had infection, without other glucocorticoid-related side effects.There was no significant difference in the incidence of infection between two groups[15.6%(5/32 cases) vs.26.5%(9/34 cases), P=0.281]. All of the above infections were of respiratory tract infections and mild gastrointestinal infections. Conclusions Efficacy of the HDD group in the initial and sustained responses is similar, but side effects were apparently lower compared with that in the Prednisone group.However, a large multicenter randomized controlled clinical study is necessary to confirm this result.

BACKGROUNDVon Hippel-Lindau (VHL) disease is a hereditary tumor disorder caused by mutations or deletions of the VHL gene. Few studies have documented the clinical phenotype and genetic basis of the occurrence of VHL disease in China. This study armed to present clinical and genetic analyses of VHL within a five-generation VHL family from Northwestern China, and summarize the VHL mutations and clinical characteristics of Chinese families with VHL according to previous studies.

METHODSAn epidemiological investigation of family members was done to collect the general information. A retrospective study of clinical VHL cases was launched to collect the relative clinical data. Genetic linkage and haplotype analysis were used to make sure the linkage of VHL to disease in this family. The VHL gene screening was performed by directly analyzing DNA sequence output. At last, we summarized the VHL gene mutation in China by the literature review.

RESULTSA five-generation North-western Chinese family afflicted with VHL disease was traced in this research. The family consisted of 38 living family members, of whom nine were affected. The individuals afflicted with VHL exhibited multi-organ tumors that included pheochromocytomas (8), central nervous system hemangioblastomas (3), pancreatic endocrine tumors (2), pancreatic cysts (3), renal cysts (4), and paragangliomas (2). A linkage analysis resulted in a high maximal LOD score of 8.26 (theta = 0.0) for the marker D3S1263, which is in the same chromosome region as VHL. Sequence analysis resulted in the identification of a functional C>T transition mutation (c. 499 C>T, p.R167W) located in exon 3 of the 167 th codon of VHL. All affected individuals shared this mutation, whereas the unaffected family members and an additional 100 unrelated healthy individuals did not. To date, 49 mutations have been associated with this disease in Chinese populations. The most frequent VHL mutations in China are p.S65 W, p.N78 S, p.R161Q and p.R167 W.

CONCLUSIONSThe results supported the notion that the genomic sequence that corresponds to the 167 th residue of VHL is a mutational hotspot. Further research is needed to clarify the molecular role of VHL in the development of organ-specific tumors.

Adolescent ; Adult ; Asian Continental Ancestry Group ; China ; Female ; Haplotypes ; genetics ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree ; Retrospective Studies ; Von Hippel-Lindau Tumor Suppressor Protein ; genetics ; Young Adult ; von Hippel-Lindau Disease ; diagnosis ; genetics

Objective To analyze the epidemiology and clinical characteristics of Brucella infection in Heilongjiang Province,and to provide experience and basis for clinical treatment and prevention of brucellosis.Methods Using retrospective analysis method,clinically diagnosed patients with brucellosis from December 2016 to December 2017 in Heilongjiang Agricultural Reclamation Bureau General Hospital were selected to analysis the general characteristics,clinical symptoms,laboratory examination results,diagnosis and treatment effect.Healthy subjects undergoing health check-up at the same period were randomly selected as control group for laboratory blood biochemical test.Results A total of 396 patients were included in the brucellosis group,including 298 males and 98 females,with an average age of (43.6 + 15.6) years old,ranged from 1 to 75 years old.The control group included 125 cases,including 83 males and 42 females,with an average age of (41.7 ±+ 18.0) years old,ranged from 7 to 71 years old.There were no significant differences in age and gender between the two groups (t =1.083,x2 =3.789,P ＞ 0.05).The patients of ＞ 14-64 years old of age had the highest incidence (90.15％,357/396).The patients were mainly rural residents (76.01％,301/396) and the majority of them were farms (50.51％,200/396).The onset time was mainly from March to June of the year (47.73％,189/396).Clinical symptoms were fever,joint or muscle pain and hyperhidrosis,which accounted for 91.16％ (361/396),76.26％ (302/396) and 44.19％ (175/396),respectively.The levels of C-reactive protein (CRP),seropropane alanine aminotransferase (ALT),aspartate transaminase (AST),γ-glutamyl transpeptadase (γ-GT),alkaline phosphatase (ALP),α-hydroxybutyrate dehydrogenase (HBDH),and lactate dehydrogenase (LDH) in patients with brucellosis were significantly higher than those in the control group (t =4.956,2.746,4.019,3.272,7.008,3.728,3.409,P ＜ 0.01 or 0.05),while total protein (TP) and albumin (ALB) levels were reduced (t =-7.252,-8.601,P ＜ 0.01).After treatment,the test results of CRP,ALT,AST,γ-GT,TP,ALB,ALP,HBDH and LDH were compared with those before the treatment,and the differences were statistically significant (t =2.291,4.393,3.382,2.608,-7.516,-4.710,3.509,4.585,4.473,P ＜ 0.01 or 0.05).Conclusions The patients with brucellosis in Heilongjiang Province are mainly male farmers,and the onset time is mostly concentrated in March-June.The clinical manifestations of brucellosis are varied,clinicians should strengthen discrimination and prevent misdiagnosis.Medicines for brucellosis might be cautiously used in clinical trial,and changes in liver function and myocardial enzyme activity should be monitored.

Objective To assess the efficacy and safety of transjugular intrahepatic portasystemic shunt (TIPS) with Viatorr covered stent in patients with portal hypertension-related complications.Methods Clinical data of 8 patients with por-tal hypertension-related complications were analyzed retrospectively.All the cases received TIPS with Viatorr covered stent.After the operation,the followed up was used to evaluate the therapeutic effect of TIPS by enhanced CT scan.Results All the operations of TIPS were technically successful.And all the cases were treated with Viatorr covered stents with diameter of 8 mm and covered segment length of 50-80 mm.For 1 case with cavernous transformation of portal vein,a 8 mm×40 mm E-Luminexx bare stent was implanted in the portal vein side.For 1 case with hepatic vein stenosis,a 8 mm× 40 mm Fluency covered stent was implanted in the hepatic vein side.After the operation,the portal pressure reduced from (33.08 [29.32,40.22])mmHg (preoperative) to (23.31 [21.43,26.51])mmHg (postoperative) with statistical difference (Z=-2.52,P=0.012).The patients were followed up for 1.1-7.7 months,and all the patients were alive without complications of portal hypertension.There were 2 cases with mild hepatic encephalopathy after operation.During the reexamination time of 1-7.7 months,all TIPS shunts remained patency.Conclusion TIPS with Viatorr stent is a safe and effective treatment for patients with portal hypertension-related complications.

Objective To assess the efficacy and safety of different diameter covered stents used in transjugular intrahepatic portosystemic shunt (TIPS) for esophagogastric varices with bleeding (EGVB). Methods The clinical data of 68 patients with portal hypertension due to cirrhosis, who received TIPS for EGVB during the period from Desember 2010 to February 2015, were retrospectively analyzed. Among the 68 patients, covered stent with diameter of 7mm was used in 30 (small stent group) and covered stent with diameter of 8mm was employed in 38 (big stent group). Using Kaplan-Meier method, the cumulative digestive tract no-rebleeding rate, the patency rate of shunt and the survival rate of both groups were analyzed. Logrank test was used to make comparison between the two groups, and chi-square test was conducted to compare the incidence of hepatic encephalopathy between the two groups. Results The operative success rate was 100％ in 68 patients. The patients were followed up for 0.1-52.3 months, with a mean of (19.4±16.0) months. The 3-, 6-and 12-month cumulative digestive tract no-rebleeding rates were 86.54％, 79.30％ and 74.90％ respectively in the small stent group, which were 91.87％, 85.93％ and 81.63％ respectively in the big stent group, but the differences between the two groups were not statistically significantly (X2=0.05, P=0.83). The 3-, 6-and 12-month cumulative patency rates of shunt in the small stent group were 95.00％, 80.19％ and 70.17％ respectively, which in the big stent group were 96.15％, 91.97％ and 81.07％ respectively, and no statistically significant differences existed between the two groups (X2=0.40, P=0.53). The 3-, 12-, 24-and 48-month cumulative survival rates in the small stent group were 93.33％, 86.67％, 75.11％ and64.38％ respectively, while those in the big stent group were 97.37％, 94.23％, 88.68％ and 76.02％ respectively, and the differences between the two groups were not statistically significantly (X2=2.21, P=0.14). Postoperative hepatic encephalopathy occurred in 15 patients (15/68, 22.06％), the incidences of hepatic encephalopathy in the small stent group and in the big stent group were 20.00％ (6/30) and 23.68％ (9/38) respectively, the difference between the two groups was not statistically significantly (X2=0.13, P=0.72). Conclusion Compared with the use of 7mm covered stent, the use of 8mm covered stent in TIPS neither can improve the curative effect nor can reduce the incidence of hepatic encephalopathy.

Objective:The results of the three lipid detection systems were compared to analyze their influence on risk stratification and clinical treatment in lipid management, especially the target goal cut-off point determination, and to find ways to reduce the impact on target goal determination of various lipid measurement system.Methods:A total of 196 serum samples with triglyceride TG <4.5 mmol/L were collected from people undergoing physical examinations and in-patients in the Second Xiangya Hospital of Central South University from August to October 2022. Triglyceride (TG), total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C) and high-density lipoprotein cholesterol (HDL-C) were directly detected with Hitachi-Woke (HW), Roche and Mindray detection systems, respectively. The non high-density lipoprotein cholesterol (non HDL-C) was calculated by formula (TC-HDL-C) and LDL-C (F-LDL-C) was calculated by Friedewald formula, and results from various methodology were compared. The coefficient of variation ( CV) of these six indicators derived from the three detection systems were calculated to evaluate the consistency of the obtained results from different venders. In addition, the Pearson correlation coefficient was analyzed to evaluate the correlation of each indicator among different systems. According to the Chinese Guidelines for Blood Lipid Management, samples were divided into groups with LDL-C levels of <1.4, 1.4-<1.8, 1.8-<2.6, 2.6-<3.4 and ≥3.4 mmol/L according to the recommended LDL-C levels for different risk stratification levels. The sample size and percentage of LDL-C test results from different systems in the same group were counted to evaluate the impact of LDL-C differences between systems on clinical decision-making of blood lipid management. The correction factor was calculated through two methods: (1) The average deviation of LDL-C between systems was estimated by EP9-A3 method; (2) Multiple linear stepwise regression was used to establish the regression model of LDL-C difference and related indexes between systems. The two correction factors were used to correct the deviation of LDL-C value obtained from various systems, and Chi-square test was used to compare the difference of LDL-C grouping consistency rate before and after correction. Result:The average CV values of TG, TC, LDL-C, F-LDL-C, HDL-C, and non HDL-C among the three detection systems were 4.84%, 1.92%, 11.96%, 3.81%, 5.82% and 2.61%, respectively. Correlation analysis showed that when comparing the three systems in pairs, except for LDL-C derived from HW and Roche′s, and Mindray and Roche′s LDL-C ( R 2=0.938 and 0.947), the R 2 of other indicators were all greater than 0.97. The consistency rates of the three systems on LDL-C and F-LDL-C were 51.0% (100/196) and 90.8% (178/196), respectively, according to the risk stratification standard values and the difference was statistically significant ( P<0.05). When comparing in pairs, the consistency rates of Roche and HW, Mindray and HW, Mindray and Roche system LDL-C grouping were 60.7% (119/196), 82.7% (162/196), and 54.1% (106/196), respectively. After adjusting for mean deviation, the group consistency rate of Roche and HW increased to 73.7%-79.4% ( P<0.05), and the group consistency rate of Roche and Mindray increased to 72.3%-79.0% ( P<0.05). After adjusting for difference regression model, the group consistency rate of Roche and HW increased to 82.5%-84.0%, and the group consistency rate of Roche and Mindray increased to 81.0%-89.2%. However, there was no significant change in the group consistency rate of Mindray and HW after adjusting for both correction methods ( P>0.05) .Conclusions:There are significant differences in LDL-C derived from different detection systems, and the consistency rate of grouping according to the lipid-lowering standard value is relatively low, which may affect clinical decision-making in lipid management. Adjusted by the correction factor, the consistency rate of grouping between Roche and HW, Roche and Mindray systems with large differences in LDL-C can be improved. Using the difference multiple linear regression model as a correction factor is superior to the average deviation.

Objective: To know the detection rate of hereditary thrombocytopenia (HT) in children with chronic thrombocytopenia and its clinical and laboratory characteristics for an early clinical identification and diagnosis of HT in future. Methods: Data of the children with thrombocytopenia, who had been treated in Beijing Children′s Hospital from April 2016 to May 2018 and whose present history lasted for more than 1 year and had poor response to immunotherapy were retrospectively collected.HT was screened in these patients by adopting next generation sequencing (NGS). Finally, clinical and laboratory characteristics of these children with HT were summarized and analyzed. Results: A total of 161 children with chronic thrombocytopenia were included.Forty-three cases (26.7%) were found to have gene mutations.The genetic rules of the mutant gene, the family verification and the clinical manifestations of the proband and some related laboratory tests were analyzed and 24 cases (14.9%) can be diagnosed as HT.Among the HT patients, the proportion of males and females was 159, and the median onset of age was 0.58 years, which was significantly lower than that of non-HT cases (the median onset of age was 4.36 years), and the difference was statistically significant (P<0.001); the proportion of mucosal hemorrhage and visceral hemorrhage (31.8% and 13.7%) of HT was significantly higher than non-HT cases (15.3% and 0.6%), and the difference was statistically significant (P<0.001). Fifty percent of (12/24 cases) cases of HT had positive family history; according to the ave-rage platelet volume and platelet morphology in peripheral blood smear, HT could be divided into small platelet HT, po-sitive platelet HT and large platelet HT.Some cases had well response to immunotherapy but seemed easy to relapse du-ring the withdrawal period, while the others responded poorly to therapy.Different clinical manifestations of HT suggest different pathogenesis, which can be divided into the related types of megakaryocyte differentiation defect, megakaryocyte maturation defect, platelet release defect and platelet survival time shortening. Conclusions The pathogenesis and cli-nical phenotype of HT was different.Some of them were effective for immunotherapy, which were easily confused with immune thrombocy-topenla(ITP). It is clinically necessary to perform NGS in children with thrombocytopenia at early onset, abnormal platelet morphology, prolonged disease course or severe mucosal/visceral hemorrhage, in order to recognize HT timely to avoid delay in diagnosis and poor prognosis.