Objective To explore the clinical and molecular-genetic features and prognosis of mitochondrial encephalopathy in children. Methods A total of 11 patients diagnosed with mitochondrial encephalopathy were collected from 2008 to 2013 in Chinese PLA General Hospital, Department of Pediatrics. The clinical manifestations, laboratory tests, muscle pathology and mitochondrial gene sequencing in patients were analyzed and followed-up. Results The onset age of the patients ranged from 6 months to 12 years with the duration of disease from 2 months to 3 years. Of the 11 patients, 6 cases were diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), 5 cases with mitochondrial disorder induced by mitochondrial respiratory chain enzyme deifciency. Main manifestations included convulsions, vomiting, headache, mental retardation, paralysis, etc. 10 patients had elevated lactate, and 7 patients had elevated pyruvate;6 cases showed increased slow wave in EEG background;Cranial MRI showed the damage involved in bilateral basal ganglia in 2 cases, temporal and occipital lobes in 3 cases, , multiple lesions in 2 cases, frontal and parietal occipital lobes in one patient and hypothalamus in one patient;3 patients were underwent MRA examination, 2 cases were normal, the other showed less shunts in contralateral left artery in the brain;3 cases who underwent MRS showed lactate peak. 2 cases of children underwent skeletal muscle biopsy, and one case showed abnormal mitochondria accumulation. Mitochondrial respiratory chain complex (I~V) defects test showed complex IV defects in 2 cases, complex V defects in 1 case, and combined defects of complex I+III in 2 case. 5 cases were found with mitochondrial DNA mutations in different sites of white blood cells including T8993G, T8993C, A3243G and 11,777 mutations. Conclusions Clinical manifestation of mitochondrial encephalopathy in children is strongly heterogeneous. Laboratory tests, brain imaging, gene mutation and respiratory chain enzyme examination can help to make early diagnosis and treatment. These diseases have poor prognosis.

BACKGROUND:Cytomegalovirus is one of the opportunistic infection viruses for organ transplant patients, and it can lead to functional loss of organ grafts and even endanger lives. Therefore, accurate diagnosis of cytomegalovirus infection at early phase is the key to clinical treatment. OBJECTIVE:To analyze the detection method, accuracy, detection time and clinical significance of cytomegalovirus infection after organ transplantation. METHODS: A computer-based search of VIP, PubMed and CNKI as wel as manual search of books were performed for literatures concerning organ transplantation and cytomegalovirus infection published from January 2007 to December 2014. The keywords were transplantation, cytomegalovirus in English and Chinese, respectively. Total 1 894 papers in English and 31 articles in Chinese were found. Among them, only 35 papers which were highly representative and published in related authoritative journals were chosen for further analysis. RESULTS AND CONCLUSION:The main non-invasive detection of cytomegalovirus infection is stil the test of CMV-pp65 antigen with good sensitivity and specificity which can accurately reflect the status of cytomegalovirus infection. This method is also the most important clinical diagnostic method. Molecular biological detection of cytomegalovirus can detect potentialy infected people, and this method can detect the infection earlier than CMV-pp65 antigen method, which is suitable for the early diagnosis of cytomegalovirus infection and early drug treatment. Quantitative nucleic acid test can be used to analyze cytomegalovirus-DNA copies so as to determine the concentrations of the virus in patients, which may provide a more sensitive monitoring way for inapparently infected patients. Cytomegalovirus-IgG and cytomegalovirus-IgM in serum can be used to determine whether organ transplant recipients have been infected by cytomegalovirus. Virus culture and histological examination have been used for several years, both of which are the gold standard for detecting cytomegalovirus. However, these methods cannot be used in early diagnosis and active infection. Immunological detection method provides a new ideal for the diagnosis of cytomegalovirus infection. This method can monitor cytomegalovirus infection from early phase accurately and assess the risk of cytomegalovirus, providing a new way for the development of the diagnosis of cytomegalovirus infection.

Objective To explore the diagnostic value of multi-slice spiral CT MIP-MPR image in regional lymph node metastasis of colonic carcinoma.Methods CT findings of 33 cases with pathological confirmed colonic carcinoma were analyzed retrospectively . All patients were underwent three-phase 256-slice CT dynamic enhancement scanning.All data were processed in workstation,to obtain routine MPR and MIP-MPR image.The regional lymph nodes of colon cancer were counted,and divided into 3 groups accord-ing to the short diameter of lymph node:group I (3.0-5.0 mm),group Ⅱ(5.1-10 mm),and group Ⅲ(10.1 mm up).The diag-nostic sensitivity of CT MPR and MIP-MPR image in checking out lymph nodes of different groups was compared by paired test.Re-sults The average value(x ±s )of lymph node number of three groups with routine MPR and MIP-MPR image were:group I, 3.66±1.99,6.09±2.44 (t=1 1.6,P <0.05);group Ⅱ,3.72±1.79,4.03±1.89 (t=3.73,P <0.05);group Ⅲ,1.21±1.31, 1.27±1.46(t=1.44,P >0.05).There were statistical differences in group I and group Ⅱ.Sensitivity of MIP-MPR image in chec-king out regional small and middle lymph nodes of colonic carcinoma was higher than routine MPR image.Conclusion Multi-slice spiral CT MIP-MPR image is a good way to checking out regional small and middle lymph nodes of colonic carcinoma.

Objective To evaluate the clinical value of cervical conization in diagnosis and management of cervical carcinoma in situ.Methods The clinic-pathological data of the 65 patients with cervical carcinoma in situ from Jan 2004 to Feb 2007 were analyzed retrospectively.Results(1)Of the 65 patients,59 cases had received the colposcopical multiple biopsies before the cervical conization and there was a correlation in pathology between cervical conization and colposcopical multiple biopsies in 46 cases(78.0%),but there was not much correspondence between cervical conization and colposcopical multiple biopsy in 13 cases(22.0%).(2)30 patients were received hysterectomy or cervical conization again.Patients with positive margins were significantiy more likely to have residual disease than those with negative margins(P

Objective To explore the inhibition effect of glutamine on the inflammation of rats with pneumonia induced by Klebsiella pneumoniae.Methods Thirty-six SD rats were randomly divided into the normal group,model group and glutamine treatment group.The rat pneumonia model was established by intratracheal instillation of Klebsiella Bacillus pneumonia.Results Compared with the model group,the glutamine treatmernt group could reduce the ratio of W/D(5.98±0.29)vs.(4.32±0.33)(P＜ 0.05),alleviated the lung tissue edema,inflammatory cell infiltration and then improved the morphology of the lung tissue,inhibited the IL-6,IL-1 and TNF-α secretion in serum and lung homogenate(P＜0.05),and inhibited the level of NF-κB p65 and IκBα phosphorylation.Conclusion Glutamine inhibits the inflammation of rats with pneumonia induced by Klebsiella pneumoniae,which might be related to NF-κB signal pathway.

The mammalian target of rapamycin (mTOR) disorders have a close relationship with autoimmune disease,tuberous sclerosis (TfSC),cancer,obesity and senescence.mTOR inhibitors are wildly used in pediatric renal transplantation and TSC.Growth is an important indicator of children health and safety evaluation of pediatric drugs must include impact on growth.No evidence showed mTOR inhibitors had side effect on growth in children.

Objective To evaluate the microRNA role in the pathogenesis of alcohol dependence.Methods By computer retrieval Medline,mirbase,PubMed,Chinese journal full-text database (CNKI),ten thousand database and VIP database,manual retrieval relevant references.Literature retrieval time limit are built from the library until July 2014.English database to Alcoholism,Alcohol Dependence,Alcohol Abstinence,Alcohol Amnestic Disorder Fetal Alcohol Spectrum Disorders,mirna as keywords retrieval;Chinese database to Alcoholism,Alcohol Dependence,Alcohol Abstinence,Alcohol Amnestic Disorder Fetal Alcohol Spectrum Disorders,microRNA,etc.Retrieved from the database to the related literature in July 2014.Results A total of 26 studies were recruited including 8 Chinese literatures and 18 English literatures.Conclusion Abnormal expression of miRNAs will become the next research direction.MicroRNAs may become new biomarker of alcohol dependence on diagnosis,may also makes the molecular drug targets,or the molecular simulation for new drug research and development,this could be for the treatment of alcohol dependence provides a new means.

Objective To investigate the relationship between neck circumference and metabolic syndrome(MS) and its components in type 2 diabetes Methods A total of 272 subjects with type 2 diabetes were recruited.According to the diagnostic criteria of MS,all subjects were divided into MS group and non-MS group.According to neck circumference tertile,all subjects were respectively divided into male and female of three groups to analyze the relationship between neck circumference and MS and its components.Male:Q1＜38.8 cm,Q2=(38.8-41.3) cm,Q3≥41.4 cm;female:Q1＜34.0 cm,Q2=34.0-36.3 cm,Q3≥36.4 cm.The optimal cut-off points of neck circumference were used to determine the MS by ROC curve.Results (1) Compared with non-MS group,subjects in MS group had significantly higher neck circumference((38.3±3.2)cm vs.(36.1±3.7) cm),waist circumference((94.1±8.4) cm vs.(82.7±10.8) cm),waist-hip ratio(0.93±0.06 vs.0.88± 0.08),body mass index ((26.2 ± 2.9) kg/m2 vs.(23.9 ± 3.5) kg/m2),fasting plasma glucose(9.0(6.7-11.5) mmol/L vs.7.7(5.9-10.2) mmol/L),systolic pressure(140(130-150) mmHg vs.130 (120-130) mmHg),diastolic pressure (80 (80-90) mmHg vs.80 (75-85) mmHg),triglycerides (1.9(1.4-2.8) mmol/L vs.1.2 (0.9-1.5) mmol/L),low-density lipoprotein cholesterol (LDL-C) ((3.3 ± 1.0)mmol/L vs.(3.0±0.9) mmol/L) and blood uric acid((322.7±90.1) mmol/L vs.(270.3±82.3) mmol/L),and the differences were significant(t or Z=-4.843,-8.622,-5.157,-5.592,-2.729,-5.723,-3.847,-6.856,-2.123,-4.545;P＜0.05).While the level of total cholesterol((2.7±2.8) mmol/L vs.(4.9±1.3)mmol/L) and high-density lipoprotein cholesterol (HDL-C) (1.0 (0.8-1.2) mmol/L vs.1.2 (1.1-1.5)mmol/L) were decreased,and the differences were significant (t or Z =-2.269,-7.068;P ＜ 0.05).(2)Compared with those with lowest tertiles(Q1 ＜38.8 cm) of neck circumference,male subjects with highest tertile (Q3≥41.4 cm) had higher level of waist circumference((97.8±8.6) cm vs.(89.9±8.5) cm),waist-hip rati (0.96±0.07 vs.0.93±0.06),body mass index((27.4±2.1) kg/m2 vs.(23.8±2.3) kg/m2),blood uric acid ((374.0±85.6) mmol/L vs.(305.8±73.6) mmol/L),and the differences were significant(P＜0.05).While age((52.1±10.7) years vs.(60.4±11.8) years) andHDL-C((1.0±0.3) mmol/Lvs.(1.2±0.5) mmol/L) were decreased,and the differences were significant (P＜0.05).Female subjects with higher tertile (Q3 ≥ 36.4 cm) had significantly higher level of waist circumference ((96.8 ± 10.1) cm vs.(79.5 ± 8.5) cm),waist-hip ratio(0.94±0.07 vs.0.86±0.06),body mass index((28.5±3.1) kg/m2 vs.(21.9±2.2) kg/m2),blood uric acid((295.2±94.3) mmol/L vs.(244.6±62.3) mmol/L),the frequency of MS(83.3％(40/48)vs.21.7％(10/46)) than with lower tertile(Q1＜34.0 cm).(3) Logistic regression analysis showed that neck circumference (β =0.187,P ＜ 0.001) was an independent risk factor of MS (y =0.187x-6.613).(4) The optimal cut-off points of neck circumference to MS were 40.1 cm (AUC =0.682,P=＞0.008) in male,and 35.3cm (AUC =0.766,P＜ 0.001) in female.Conclusion Neck circumference increases when type 2 diabetes patients with MS.Neck circumference is an independent risk factor for MS,which can be used as an indicator to evaluate MS.

Objective To observe the relationship between blood stasis syndrome and clinical pathology in patients with IgA nephropathy (IgAN). Methods Clinical and pathological materials of 42 patients with blood stasis syndrome,and 73 patients with non blood stasis syndrome were analyzed. Result Patients with blood stasis syndrome are often female and accompanied with renal dysfunction. Compared with patients of non blood stasis syndrome,Lee’s grades were obviously higher,degrees of fibrinogen-related antigen (FRA) deposited in renal were stronger,and scores or ratio of tubular atrophy significantly were higher. Conclusion Blood stasis syndrome of IgAN is correlated with certain renal pathological changes. Blood stasis is the main etiological factor.

Objective To investigate whether transforming growth factor-β1 (TGF-β1) could induce the expression of twist protein in the human kidney tubular epithelial cells (HKCs).Methods Human proximal HKCs were cultured in vitro and divided into three groups as follows:control group,TGF-β1group (10 ng/ml),and TGF-β1 + wortmannin group (10 ng/ml,10nmol/l,respectively).After cultured for 48 hours,cell immunofluorescene was used to observe the expression of E-cadherin and alpha-smooth muscle actin (α-SMA).Meanwhile,Western blotting was used to detect the protein expression of E-cadherin,α-SMA,and twist.Results Compared to control group,the protein expressions of E-cadherin were significantly decreased in T group (3.54 ± 0.17 vs 16.06 ± 0.50,P =0.001),whereas the protein expressions of α-SMA and twist were significantly increased in T group (α-SMA:14.78 ± 0.48 vs 3.75 ± 0.50,P=0.001 ;twist:14.24 ±0.14 vs 3.06 ±0.15,P =0.001).Compared to T group,a significant increase of the E-cadherin protein expression was detected in TGF-β1 + wortmannin group (15.88 ± 0.36,3.46 ±0.19,P =0.001),whereas,the protein expressions of α-SMA and twist were significantly decreased in TGF-β1 + wortmannin group (α-SMA:3.50 ±0.39 vs 15.0 ±0.24,P =0.001 ;twist:3.09 ±0.1 vs 14.04± 0.16,P =0.001).Cell imunofluorescence showed that the expressions of E-cadherin and α-SMA were consistent with the results of Western blotting.Conclusions TGF-β1 can induce the expression of twist protein in HKCs through Akt pathways.