Genetic variant analysis of a neonate with Cornelia de Lange syndrome / 中华医学遗传学杂志

OBJECTIVE@#To detect pathogenic variant in a neonate suspected for Cornelia de Lange syndrome (CdLS).@*METHODS@#Potential mutations of CdLS-related genes (NIPBL, SMC1A, SMC3, RAD21 and HDAC8) were detected by high-throughput target region capture and next-generation sequencing. Suspected variants was verified by Sanger sequencing.@*RESULTS@#The child was found to harbor a heterozygous splice site variant, c.6109-1G>A, of the NIPBL gene. Sanger sequencing suggested that neither parent has carried the same variant, suggesting that it was de novo. The variant was unreported by HGMD and ExAC database, and was predicted to alter an acceptor splicing site. No pathogenic variants of SMC1A, SMC3, RAD21 and HDAC8 genes were detected.@*CONCLUSION@#The heterozygous c.6109-1G>A splicing variant of the NIPBL gene may underlie the disease in this child. Above finding has expanded the variant spectrum of the NIPBL gene.

Value of combined detection of serum TSGF,NSE,CYFRA21-1,SCCAg in diagnosis of lung cancer / 国际检验医学杂志

Objective To investigate the clinical value of tumor specific grow th factor(TSGF),neuron specific enolase(NSE),cytokeratin 19 fragment(CYFRA21-1),squamous cell carcinoma antigen(SCCAg)in the diagnosis of lung cancer.Methods 20 patients with lung cancer,42 patients with lung benign diseases and 54 healthy people undergoing the physical examination in this hospital from September 2014 to November 2016 were served as the lung cancer group,benign diseases group and healthy control group respectively.The Abbott microparticle chemiluminescence instrument was used to detect CYFRA21-1 and SCCA levels,the Roche electrochemical luminescence instrument was used to detect the NSE level and the TSGF level was de-tected by using the Olympus 5400 biochemical analyzer.Then the detection results were statistically analyzed. Results The levels of serum TSGF and NSE in the lung cancer group were higher than those in the lung be-nign diseases group and healthy control group,and the differences were statistically significant(P< 0.05). The serum CYFRA21-1 level of the lung benign disease group was higher than that in the healthy control group(P<0.05).The sensitivity and specificity of TSGF,NSE,CYFRA21-1 and SCCAg combined detection were 90.00% and 93.00% respectively.The area under the ROC curve was 0.959.Conclusion TSGF posses-ses wide spectrum marker characteristics,has a certain value for screening lung cancer,moreover its combined detection with NSE,CYFRA21-1 and SCCAg can increase the accuracy in diagnosis of lung cancer.

DNA Vaccines Encoding Toxoplasma gondii Cathepsin C 1 Induce Protection against Toxoplasmosis in Mice

Toxoplasma gondii cathepsin C proteases (TgCPC1, 2, and 3) are important for the growth and survival of T. gondii. In the present study, B-cell and T-cell epitopes of TgCPC1 were predicted using DNAstar and the Immune Epitope Database. A TgCPC1 DNA vaccine was constructed, and its ability to induce protective immune responses against toxoplasmosis in BALB/c mice was evaluated in the presence or absence of the adjuvant α-GalCer. As results, TgCPC1 DNA vaccine with or without adjuvant α-GalCer showed higher levels of IgG and IgG2a in the serum, as well as IL-2 and IFN-γ in the spleen compared to controls (PBS, pEGFP-C1, and α-Galcer). Upon challenge infection with tachyzoites of T. gondii (RH), pCPC1/α-Galcer immunized mice showed the longest survival among all the groups. Mice vaccinated with DNA vaccine without adjuvant (pCPC1) showed better protective immunity compared to other controls (PBS, pEGFP-C1, and α-Galcer). These results indicate that a DNA vaccine encoding TgCPC1 is a potential vaccine candidate against toxoplasmosis.

Expression of MMP-2 and NF-κB in myocardium of mice with viral myo-carditis / 中国病理生理杂志

[ ABSTRACT] AIM: To observe the effects of TNF-α/nuclear factor-κB( NF-κB) /matrix metalloproteinase-2 (MMP-2) pathway on the expression of MMP-2 in the mice with viral myocarditis.METHODS: Six-week-old inbred male mice were randomly assigned to control and myocarditis group.The mice in myocarditis group and control group were intra-peritoneally inoculated with 0.1 mL 10-5.69 TCID50 /mL coxsackievirus B3 and vehicle (PBS), respectively.Ten mice were sacrificed at the 4th and 10th days after injection.The blood and heart specimens were harvested.The serum content of TNF-αwas measured by ELISA.The myocardial levels of MMP-2, NF-κB p65 and IκBαwere determined by Western blot.RESULTS: Compared with control group, the protein expression of MMP-2 and NF-κB p65 in the myocardium and the serum content of TNF-αwere significantly increased in myocarditis group (P <0.05).The protein expression of IκBαwas lower in myocarditis group than that in control group (P <0.05).CONCLUSION: TNF-α, NF-κB p65 and MMP-2 were higher in the mice with acute viral myocarditis.The increased expression of them might be involved in the pathogene-sis of viral myocarditis.

Interventional treatment of post-biopsy renal artery pseudoaneurysm in a child: case report and literature review / 中华儿科杂志

<p><b>OBJECTIVE</b>To investigate the characteristics,diagnosis and therapy of post-biopsy renal artery pseudoaneurysm in children and to study the clinical value of arterial embolization for traumatic renal hemorrhage when conservative treatment failed.</p><p><b>METHOD</b>Data were compiled from medical records of a child in whom renal artery pseudoaneurysm occurred after biopsy in the Provincial Hospital Affiliated to Shandong University , and the related literature was reviewed to analyze the diagnosis and treatment of such pseudoaneurysm.</p><p><b>RESULT</b>A 13-year-old boy had gross hematuria, aggravated dysuria and decreased hemoglobin 10 days after percutaneous renal biopsy. Hb decreased from 110 g/L on the first day after admission to 92 g/L on the 4th day, 83 g/L on the 7th day and the minimum to 74 g/L at the 8th day after admission. Ultrasound showed solid echogenic mass in the right renal pelvis as well as the bladder. Color Doppler ultrasound shows the red and blue rotation of blood flow in the polar capsule under the right kidney. Contrast-enhanced CT in the arterial phase showed a 0.5 cm sized renal mass with a strongly enhanced dot in the lower pole of the right kidney, suggesting a renal artery pseudoaneurysm. Haemostatic, supplement of red blood cells and blood volume and other integrative treatment of hematuria were applied for seven days, but his gross hematuria continued to be worsened. He was diagnosed as pseudoaneurysm by digital subtraction angiography (DSA) on the 19th day after renal biopsy. Superselective renal artery embolization using micro-coils and gelatin sponge particles was performed, and the blood clots were cleaned under cystoscope. Macro-haematuria and dysuria disappeared after the interventional treatment. Retrieval of reports on post-biopsy renal artery pseudoaneurysm in children by using "pseudoaneurysm, child" as the search term showed report of one case from the Chinese CNKI database and 3 cases from the PubMed database. The underlying disease was Henoch-Schonlein purpura nephritis in 3 cases and Sneedon syndrome in 1 case; clinical manifestation of gross haematuria was present in 4 cases, lumbago or pain at the site of the puncture in 2 cases, dysuria in 1 case, and fever in 2 cases.</p><p><b>CONCLUSION</b>The post-biopsy renal artery pseudoaneurysm in children is often manifested as gross hematuria, lumbago, pain at the site of the puncture, fever and dysuria, DSA can be used for definite diagnosis and the interventional treatment is effective.</p>

The protective role of hydrogen sulfide in a mouse model of viral myocarditis induced by Coxsachie-virus B3 / 中华微生物学和免疫学杂志

Objective To investigate the protective role of hydrogen sulfide and the expression of cystathionine gamma-lyase/hydrogen sulfide pathway in a mouse model of myocarditis induced by Coxsachie -virus B3(CVB3).Methods A total of 110 five-week-old BALB/c male mice were randomly divided into four groups:the control group, viral myocarditis group, sodium bisulfide (NaHS) group (50 μmol/kg) and DL-propargylglycine (PAG) group (40 mg/kg).The experimental model of viral myocarditis was induced by intraperitoneal injection of CVB 3.Then the four groups were respectively administered with PBS , PBS, NaHS and PAG from day 1 to day 10 after infection.Blood and heart specimens were harvested from 10 mice of each group on day 4 and day 10 for evaluation of myocardial edema .The pathological changes in heart tis-sues were observed through hematoxylin-eosin staining.Levels of H2 S, IL-6 and TNF-αwere measured by ELISA.The expressions of CSE and CVB 3 at mRNA level were determined by quantitative real time PCR ( qRT -PCR ) analysis and the expression of CSE at protein level was detected by Western blot .Results Compared with the control group , the levels of H2 S and the expressions of CSE at mRNA and protein levels were down-regulated in mice with CVB 3-induced myocarditis .With the treatment of NaHS , the levels of H 2 S in serum and tissue were both up-regulated , and the histopathological damage was alleviated .However , PAG as an irreversible CSE inhibitor inhibited the expressions of H 2 S and CSE and aggravated myocardial injury , inflammatory cells infiltration and interstitial edema .Moreover , the RT-PCR analysis also showed that the expression of CVB3 at mRNA level was inhibited by NaHS but enhanced by PAG .Conclusion The expres-sion of CSE/H2 S pathway is down-regulated in mice with CVB 3-induced viral myocarditis .PAG could pro-mote virus propagation and exacerbate the disease through inhibiting the production of endogenous H 2 S, while NaHS as a H2 S donor has a protective effect on infected myocardium by suppressing virus replication at an early stage .

Epidemiologic study of children admitted to hospital with Kawasaki disease in Wenzhou from 2001 to 2010 / 中华风湿病学杂志

Objective To evalute the incidence and epidemiologic characteristics of Kawasaki disease (KD) in Wenzhou,China.Methods We used a questionnaire survey and reviewed the medical records and reports of all patients with KD diagnosed during the 10 year periods from January,2001 to December,2010.Results We studied 827 inpatients diagnosed with KD during the 10-years period from 2001 to 2010.There were 613 cases (74.12％) with complete KD.The ratio of male to female ratio was 2.28∶1.Age at onset ranged from 37 days to 13 years old,and the peak age group was 1 year old.The disease occurred in all of the seasons,but the peak was from April to June.The incidence of cardiovascular damage in acute KD was 34.6％,and the most common sequela was coronary artery dilatation.There were16 patients with coronary aneurysm.Fifty-three patients did not respond to immunoglobulin (6.4％),and 12 patients (1.5％) developed recurrent KD.After treatment,114 cases (13.8％) developed neutropenia.There were no deaths during hospitalization.Conclusion Patients with KD has become more and more in Wenzhou.Cardiovascular damages were similar to those in Beijing and Guangzhou,but higher than that reported in Japan.

Perioperative nursing for patients with combined endoscopic nephroureterectomy / 中国实用护理杂志

Objective In order to know the operative key points of combined endoscopic nephroureterectomy. Methods Retrospective analyzed 16 patients with combined endoscopic nephroureterec-tomy, and then summarized perioperative nursing points. Results All the patients had successful operation without any complications. Conclusions Careful perioperative nursing are the guarantee for successful oper-ation, which can effective promote the rehabilitation for patients.

Clinical features of six sporadic cases of infant pulmonary hemorrhage of enterovirns 71 infection without skin rash / 中华传染病杂志

Objective To understand the clinical features of infant pulmonary hemorrhage of enterovirus 71 infection without skin rash, and to improve the diagnosis and treatment of this disease.Methods Six infants infected with enterovirus 71 and presented pulmonary hemorrhage but no skin rash between November 2007 and October 2008 were retrospectively reviewed. The clinical manifestations, clinical outcomes, treatments, laboratory data and chest imaging changes of the cases were analyzed. Results The 6 cases were all younger than 2 years old. The cases distributed throughout the whole year without peak season. Enterovirus 71 gene was detected by reverse transcription-polymerase chain reaction (RT-PCR) and real time polymerase chain reaction from throat swabs and secretions of the respiratory tract. All the cases began with fever, and 4 of which were accompanied with vomit, and 2 accompanied with cough. After 1 to 3 days, they all got sudden deterioration, manifested with pale and cyanosis, and 1 had hyperspasmia. After intubation, they all had pink frothy fluid from the endotracheal tube. They all had obvious hyperglycaemia, 4 had tachycardia, and 2 had hypertension. All the 6 cases died, and 4 died within 6 h after deterioration. Conclusions Pulmonary hemorrhage of enterovirus 71 infection without skin rash is seen in infants. It is sporadic throughout the whole year. The disease is fulminant and the case often dies in short period of time.

The relationship between types of TCM syndrome of GERD、24-hour pH value in esophagus and its endoscopic performance / 重庆医科大学学报

Objective:To analyze the relationship between types of Traditional Chinese Medicine(TCM)Syndrome of gastroesophageal reflux disease(GERD)、24-hour pH value in esophagus and its endoscopic performance in order to look for objective indexes for differentiation for syndrome classification in TCM of GERD.Methods:Among 172 patients finished 24hour pH dynamic monitor,Each patient performed upper gastrointestinal endoscopy to detect reflux esophagitis(RE)and grade the endoscopic findings,regulated common types of TCM syndrome of GERD,and relativity between then were compared.Results:All parameters of acid exposition in the type of heat stagnation in the liver and stomach were obviously higher than that in other tapes(P