Clinical features and TTC21B genotype of a child with nephronophthisis type 12 / 中国当代儿科杂志

Nephronophthisis (NPHP) is a group of autosomal recessive tubulointerstitial cystic kidney disorders. This article reports a case of NPHP type 12 caused by TTC21B mutations. The girl had an insidious onset, with moderate proteinuria, renal dysfunction, stage 2 hypertension, situs inversus, and short phalanges when she visited the hospital for the first time at the age of 3 years and 6 months. The renal lesions progressed to end-stage renal disease (ESRD) before she was 4 years old. Urine protein electrophoresis showed glomerular proteinuria. There were significant increases in urinary β2-microglobulin and α1-microglobulin. Gene detection revealed two compound heterozygous mutations, c.1552T>C (p.C518R) and c.752T>G (p.M251R), in the TTC21B gene, which came from her father and mother respectively. The c.752T>G mutation was a novel mutation. It is concluded that besides typical tubular changes of NPHP, marked glomerular damage is also observed in patients with TTC21B gene mutations.

Effect of Metapex paste on root cancal therapy of deciduous teeth:a Meta-analysis / 预防医学

Objective To evaluate the effect of Metapex for root canal therapy of deciduous teeth. Methods Based on the key words"Metapex paste" and"Root canal therapy of deciduous teeth" , the Chinese database, such as China national knowledge infrastructure, Wanfang database and Weipu database were retrieved. Based on the key words"Metapex" and"deciduous teeth" , the English databases such as PubMed and Medline were retrieved. Collecting random controlled trials about Metapex paste with root canal therapy of deciduous teeth from the beginning of their establishment to August 2017. Do Meta analysis using Rev Man 5.3 software for homogeneous studies, calculating risk ratio (RR) and 95％ confidence interval (CI) . Results Twelve studies were included. Meta analysis showed that Metapex was more effective in root canal therapy of deciduous teeth compared with zinc oxide eugenol iodoform paste after 1 year (RR=1.11, 95％ CI: 1.01-1.22); The clinical effectiveness of Metapex paste was better than calcium hydroxide after 6 months and 1 year (RR6 mouths=1.06, 95％ CI: 1.03-1.09; RR1 year=0.17, 95％ CI: 1.03-1.10); There was no obvious difference between Metapex and ZOE after 6 months (RR=1.13, 95％ CI:1.00-1.27) . Conclusion Metapex paste can improve the success rate on root canal therapy of deciduous teeth , is a more ideal root canal filling material of deciduous teeth .

Novel Role of ER Stress and Mitochondria Stress in Serum-deprivation Induced Apoptosis of Rat Mesenchymal Stem Cells / 华中科技大学学报（医学）（英德文版）

The poor survival of mesenchymal stem cells (MSCs) compromises the efficacy of stem cell therapy.Growth factor deprivation is one of the important factors that have challenged the survival of donor MSCs in cell therapy.In this study,the aim was to evaluate the effect of serum deprivation on the cell death of MSCs and to investigate the underlying mechanisms.Apoptosis of MSCs was evaluated with Hoechst 33342/PI staining.Signaling pathways involved in serum-deprivation induced apoptosis were analyzed using Western blotting.The results revealed that serum deprivation induced apoptosis in MSCs within 72 h of treatment.Serum deprivation was shown to lead to protein expression alterations in Bax,Bcl-2,casepase-3,casepase-8,GRP78,and CHOP during experiments.The data suggested that the mitochondria death pathway,the extrinsic apoptotic pathway and the endoplastic reticulum(ER) stress pathway were all involved in MSCs apoptosis.The increase in expression of CHOP and the simultaneous decrease in Bcl-2 expression suggest a synergistic effect in apoptosis induction in both the mitochondrion and the ER.

Novel Role of ER Stress and Mitochondria Stress in Serum-deprivation Induced Apoptosis of Rat Mesenchymal Stem Cells / 华中科技大学学报（医学）（英德文版）

The poor survival of mesenchymal stem cells (MSCs) compromises the efficacy of stem cell therapy.Growth factor deprivation is one of the important factors that have challenged the survival of donor MSCs in cell therapy.In this study,the aim was to evaluate the effect of serum deprivation on the cell death of MSCs and to investigate the underlying mechanisms.Apoptosis of MSCs was evaluated with Hoechst 33342/PI staining.Signaling pathways involved in serum-deprivation induced apoptosis were analyzed using Western blotting.The results revealed that serum deprivation induced apoptosis in MSCs within 72 h of treatment.Serum deprivation was shown to lead to protein expression alterations in Bax,Bcl-2,casepase-3,casepase-8,GRP78,and CHOP during experiments.The data suggested that the mitochondria death pathway,the extrinsic apoptotic pathway and the endoplastic reticulum(ER) stress pathway were all involved in MSCs apoptosis.The increase in expression of CHOP and the simultaneous decrease in Bcl-2 expression suggest a synergistic effect in apoptosis induction in both the mitochondrion and the ER.

Risk analysis of imported schistosomiasis in Shanghai City from 2005 to 2015 / 中国血吸虫病防治杂志

Objective To understand the risk situation of imported schistosomiasis and its main influencing factors in Shang-hai City from 2005 to 2015. Methods A retrospective survey was performed,and the database was established based on the da-ta collection of imported schistosomiasis,Oncomelania hupensis snail situation and mobile population in Shanghai City from 2005 to 2015. Results From 2005 to 2015,the mobile population in Shanghai City increased by 123.92％,which reached about 9816500,and 54.70％of them were located in the inner suburban districts. The accumulated areas with snails of 7.13 hm2 were found in 16 towns of 4 outer suburbs(excluding Chongming District). A total of 23 cases of imported schistosomiasis were found in Shanghai City,and the number of the imported schistosomiasis cases was on the downward trend(rs=-0.782,P=0.004). From 2005 to 2009,11 out of 13 imported schistosomiasis cases(84.62％)were distributed in the inner suburban dis-tricts where no O. hupensis snails were found at the same time. From 2010 to 2015,9 out of 10 imported schistosomiasis cases (90％)were distributed in the outer suburban districts where O. hupensis snails were found at the same time. Conclusion The number of imported schistosomiasis cases in Shanghai is on the downward trend. However,the threat of imported schistosomiasis to the prevention and control of schistosomiasis in Shanghai City should not be ignored.

Colonization of Porphyromonas endodontalis in primary and secondary endodontic infections / 华西口腔医学杂志

<p><b>OBJECTIVE</b>This study aims to assess and compare the prevalence of Porphyromonas endodontalis (P. endodontalis) in root canals associated with primary and secondary endodontic infections by using 16s rDNA PCR and real-time fluorescence quantitative polymerase chain reaction (RTFQ-PCR).</p><p><b>METHODS</b>A total of 120 adult patients with one radiographically documented periapical lesion were included. Sixty teeth presented with primary endodontic infections and 60 with secondary endodontic infections requiring retreatment. P. endodontalis was identified by using 16s rDNA PCR techniques. The positive DNA expression of P. endodontalis in two types of infected root canals were quantitatively compared by using SYBR GREEN I RTFQ-PCR.</p><p><b>RESULTS</b>The prevalence of P. endodontalis in the root canals with primary endodontic infections was significantly higher than that in root canals with secondary endodontic infections (P = 0.001). However, RTFQ-PCR results showed no significant difference in DNA expression quantities between the primary and secondary endodontic infections root canals (P = 0.303).</p><p><b>CONCLUSION</b>P. endodontalis is more highly associated with root canals having primary endodontic infections, although P. endodontalis colonize in both root canals with primary and secondary chronic apical periodontitis.</p>

Clinical and genetic analysis of Dent disease in 4 Chinese children / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the clinical features and gene mutations of 4 Chinese children with Dent disease.</p><p><b>METHODS</b>The clinical and laboratory data of 4 children with Dent disease were analyzed retrospectively. Genetic testing of the 4 cases was carried out.</p><p><b>RESULTS</b>All of 4 cases were boys. The first impression of Cases 1-3 was Fanconi syndrome. Proteinuria was presented as the first impression in Case 4. All 4 boys presented with low-molecular weight proteinuria (LMWP) and hypercalciuria, including 3 cases with hematuria, 1 case with kidney stones, 2 cases with nephrocalcinosis, 3 cases with hypophosphatemia, and 3 cases with rickets. Mutations of the CLCN5 gene were revealed in three patients (Cases 1, 2 and 4), including exon 6-7del, c.785_787de l(p.263del Leu) and c.1039 C>T (p.Arg347Term). The first two gene mutations had never reported before.</p><p><b>CONCLUSIONS</b>Urine protein electrophoresis should be carried out for patients with proteinuria. Dent disease should be taken into consideration when patients with Fanconi syndrome have hypercalciuria, nephrocalcinosis or kindey stones. Genetic analyses are needed for a definite diagnosis.</p>

Effects of Chinese medicine combined with laser therapy for peripheral retinal hole with shallow detachment / 国际眼科杂志(Guoji Yanke Zazhi)

AIM:To evaluate the clinical effect of traditional Chinese medicine plus laser photocoagulation on eyes which have peripheral retinal hole with shallow detachment. METHODS: The 227 cases ( 246 eyes ) of retinal hole with shallow detachment were randomly divided into an integrated Chinese and western medicine group and a western medicine group. The former underwent laser photocoagulation combined with oral Chinese medicine;while the latter was treated with laser photocoagulation alone. Analyses of the effect were performed two months after treatment. RESULTS:The total cure rate of integrated Chinese and western medicine group was 87. 7%, while that of western medicine group was 71. 6%, significant difference was considered between the two groups (P CONCLUSION: Chinese medicine combined with laser photocoagulation plays an exact role in eyes which have peripheral retinal hole with shallow detachment, especially when the detached range is greater than 1PD, and it is significantly better than western laser therapy.

Clinical manifestations, laboratory test, treatment and outcome of neuropsychiatric involvement in pediatric systemic lupus erythematosus patients / 中华儿科杂志

<p><b>OBJECTIVE</b>To investigate the clinical manifestations, laboratory test, treatment and outcome of neuropsychiatric (NP) involvement in pediatric systemic lupus erythematosus (SLE) patients.</p><p><b>METHODS</b>Seventy-seven patients with NP syndromes of SLE (NPSLE) seen from 1987 to 2007 were retrospectively reviewed. The relationship between the relative factors and the relapse of NPSLE was analyzed with logistic regression model.</p><p><b>RESULTS</b>NPSLE was found in 17.3% of the SLE patients and 75% of the NPSLE patients the NP involvements occurred in the first 2 years of the onset of SLE. The most frequent NP manifestations were headache (31.8%) and seizure disorder (29.1%). In the active phases, the levels of Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) scores of the 92.2% patients were higher than 15 and belonged to severe lupus. The patients were accompanied frequently with fever (88.3%) and rash (84.4%). The most frequently involved organs were kidney (76.6%) and blood system (67.5%). In the active phases, the ANA was positive (98.7%), the level of ESR increased (86.3%), the level of complement profile decreased (72.7%). The cerebrospinal fluid (CSF) study, the CT, the MRI and the EEG were abnormal (90.1%, 60.7%, 54.8%, 73.9%, respectively). All the patients received glucocorticoids and immunodepressant treatment in which 79.2% received IV high-dose methylprednisolone (MP), 51.9% received intrathecal (IT) methotrexate (MTX) and dexamethasone (DXM), 26.0% received IVIG, 2 patients received autologous peripheral blood stem cell transplantation. The mortality was 9.0%. The rate of relapse was 22.0% and in 75.0% of relapsed patients the relapse occurred within 24 months from the onset of NPSLE. The SLEDAI scores related to the relapse of the NPSLE (chi(2) = 3.987, P = 0.0459, OR = 1.172, 95% CI 1.003 and 1.370).</p><p><b>CONCLUSION</b>SLEDAI scores were significantly helpful in predicting recurrence of NPSLE.</p>

Clinical analysis of pulmonary arterial hypertension secondary to connective tissue disease in children / 中华儿科杂志

<p><b>OBJECTIVE</b>To study the epidemiology, clinical characteristics and prognosis of children with pulmonary arterial hypertension (PAH) secondary to connective tissue disease (CTD).</p><p><b>METHODS</b>The clinical record files of the pediatric inpatient with PAH in the population of CTD in the hospital treated between January 2000 and January 2007 were analyzed retrospectively.</p><p><b>RESULTS</b>(1) In 299 patients with CTD and complete Doppler echocardiography files, 31 (31/299, 10.4%) patients (28 females and 3 males), aged from 7 to 18 years (average: 12.5 years), were found to have PAH, in whom, 5(62.5%)in 8 patients with overlapped CTD (OCTD), 2 (50.0%) in 4 patients with antiphospholipid syndrome (APS), 4(28.6%) in 14 patients with systematic vasculitis (SV), 3 (10.7%) in 28 patients with dermatomyositis (DM), 17(7.6%) in 223 systemic lupus erythematosus (SLE) had PAH. The CTD-associated PAH occurred in the 3rd week to 5th year after initial CTD manifestations (median onset: 1.5 years). (2) The onset of CTD-associated PAH was obscure and children with severe CTD-associated PAH presented with dyspnea (18/31, 58.1%) and heart failure (9/31, 29.0%). The children with Raynaud's phenomenon or positive anticardiophospholipid antibody (ACL) or positive lupus anticoagulant (LA) were prone to have more severe PAH. (3) Doppler echocardiography and pulmonary function test, especially the test of pulmonary diffusion function of CO (D(LCO)) were necessary to detect PAH early. (4) After treatment, the pulmonary arterial pressure in mild and moderate PAH cases could be normalized and in severe PAH cases could be decreased to mild or moderate levels. There was a lower PaO(2) level (P < 0.01), a higher pulmonary arterial systolic pressure (PASP) level (P < 0.05) in the cases of CTD-PAH who died as compared with the live patients.</p><p><b>CONCLUSIONS</b>PAH is a common complication of CTDs, which occurs often 1.5 years after initial CTD manifestations. The early associated symptom is obscure and the severe cases manifest with dyspnea and heart failure. Those with Raynaud's phenomenon and positive ACL and LA are prone to develop more severe PAH. Early and regular Doppler echocardiography and pulmonary function test are necessary to detect PAH early. Severe CTD associated PAH in children could lead to poor outcome. PASP classification and PaO(2) level are important factors affecting prognosis.</p>

Assessment of the Function of Disabled Athletes Using Disability Assessment Schedule Ⅱ(WHO-DAS Ⅱ) / 中国康复理论与实践

@#ObjectiveTo evaluate the reliability and validity of the of Disability Assessment Schedule Ⅱ of World Health Organization(WHO-DASⅡ) applied in assessment of the function of disabled athletes.Methods56 disabled people,26 wheelchair basketball athletes and 30 patients,were sampled and completed WHO-DASⅡ questionnaire.The test and re-test had been administrated in 10 days.Barthel Index(BI) and Sports Classification Test had been implemented for the functioning assessment.ResultsThe test-retest reliability for WHO-DASⅡ in six dimensions were: 0.978,0.807,0.938,0.877,0.998,0.935,0.986 and all were in very significant level(P<0.01).There were negative correlation between WHO-DASⅡ scores and BI in total and in every dimension,the correlation coefficients were:-0.77,-0.17,-0.71,-0.82,-0.33,-0.73,-0.61.The correlation coefficients between WHO-DASⅡ total and six dimensional scores and the grade of sports classification were:-0.741,-0.378,-0.806,(-0.541),-0.293,-0.510,-0.677.ConclusionWHO-DASⅡ can be used in assessing the function of disabled athletes.