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1.
Chinese Journal of Pediatrics ; (12): 114-118, 2022.
Article in Chinese | WPRIM | ID: wpr-935653

ABSTRACT

Objective: To summarize the clinical characteristics of inflammasomopathies, enhance the recognition of those diseases, and help to establish the early diagnosis. Methods: The clinical manifestations including fever, rash, systems involvement as well as laboratory results and genotypic characteristics of 35 children with inflammasomopathies diagnosed by the Department of Pediatrics, Peking Union Medical College Hospital, from January 1, 2008 to December 31, 2020 were analyzed retrospectively. Results: A total of 35 cases of inflammasomopathies were diagnosed, and 20 of them were boys while 15 were girls. Inflammasomopathies patients have early onset, the age of onset as well as diagnostic age were 1 (0,7) and 7 (3,12), respectively. Among those patients, 10 had familial mediterranean fever, 3 had mevalonate kinase deficiency, 15 cases had NLRP3 gene associated autoinflammatory disease, 4 cases had NLRP12-associated autoinflammatory disease, 2 cases had familial cold autoinflammatory syndrome 3, and 1 case had familial cold autoinflammatory syndrome 4. A total of 34 cases (97%) showed recurrent fever, 27 cases (77%) had skin rashes, while 11 cases (31%), 10 cases (29%), and 8 cases (23%) were presented with lymphadenopathy, hepatosplenomegaly and growth retardation, respectively. In terms of systemic involvement, there were 18 cases (51%), 12 cases (34%), 8 cases (23%), and 5 cases (14%) with skeletal, neurological, auditory, and renal involvement, respectively. Central nervous system involvement was seen only in NLRP3 gene associtated autoinflammatory diseases (12 cases), sensorineural deafness was seen in NLRP3 gene associtated autoinflammatory diseases (6 cases) and NLRP12 gene associated autoinflammatory diseases (2 cases), and abdominal pain was observed in familial Mediterranean fever (5 cases), mevalonate kinase deficiency (1 case) and NLRP12 gene related autoinflammatory diseases (1 case). In the acute inflammatory phase, the acute phase reactants (erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP)) of 35 cases (100%) were significantly increased. There were 21 cases received ferritin examination, and only 4 cases (19%) showed an increase of it. In terms of autoantibodies, among all 35 patients, 4 cases (11%) were positive for antinuclear antibodies (ANA). Conclusions: Fever, skin rash, and skeletal manifestations are the most common clinical features, accompanied with increased CRP and ESR, and negative results of autoantibodies such as ANA. The clinical manifestations of those diseases are complex and diverse, and it is prone to delayed diagnosis and treatment.


Subject(s)
Child , Female , Humans , Male , Familial Mediterranean Fever , Fever/etiology , Genotype , Hereditary Autoinflammatory Diseases , Retrospective Studies
2.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 163-171, 2021.
Article in Chinese | WPRIM | ID: wpr-905877

ABSTRACT

Objective:To establish the sequence-related amplified polymorphism (SRAP)-polymerase chain reaction (PCR) system for <italic>Valeriana officinalis</italic> var. <italic>latifolia</italic>,so as to lay the theoretical and technical foundations for the breeding of<italic> V. officinalis </italic>var. <italic>latifolia</italic>. Method:Single factor test was applied to investigate the effects of <italic>Taq</italic> Mix dose,Mg<sup>2+ </sup>concentration,template DNA concentration,and <italic>Taq </italic>DNA polymerase content on SRAP-PCR amplification of <italic>V. officinalis </italic>var. <italic>latifolia</italic>,based on which the orthogonal experiments were performed to optimize the SRAP-PCR system for <italic>V. officinalis </italic>var. <italic>latifolia</italic>. The effective primers that could be used for genetic diversity studies of <italic>V. officinalis</italic> var. <italic>latifolia </italic>were selected under the optimal reaction condition. Result:The results of the single factor test showed that <italic>Taq </italic>Mix dose within the range of 8-11 μL resulted in better amplification. The addition of a low concentration of Mg<sup>2+</sup>,the medium to low concentrations of template DNA,or the low concentration of <italic>Taq</italic> DNA polymerase enhanced the amplification efficiency or richness. As demonstrated by the orthogonal experiments,the influencing degrees of related factors on SRAP-PCR amplification of <italic>V. officinalis</italic> var. <italic>latifolia </italic>were sorted in a descending order as follows: <italic>Taq</italic> Mix dose><italic>Taq</italic> DNA polymerase content>Mg<sup>2+</sup> concentration>template DNA concentration. The optimal reaction system for <italic>V. officinalis</italic> var. <italic>latifolia </italic>was determined to consist of 11 μL of <italic>Taq</italic> Mix,30 ng of template DNA,0.025 mmol·L<sup>-1 </sup>Mg<sup>2+</sup>,1.5 U<italic> </italic>of<italic> Taq </italic>DNA polymerase,5 μmol·L<sup>-1</sup> forward primer,and 5 μmol·L<sup>-1</sup> reverse primer,which was supplemented to 20 μL with ddH<sub>2</sub>O. The optimal annealing temperature was 36.8 ℃. A total of 17 pairs of effective primers with high band resolution and polymorphism were selected from 88 primer pairs for SRAP-PCR of <italic>V. officinalis</italic> var. <italic>latifolia</italic>. Conclusion:The established SRAP-PCR system for <italic>V. officinalis</italic> var. <italic>latifolia</italic> is stable, which can be used for genetic diversity studies of <italic>V. officinalis</italic> var. <italic>latifolia</italic>.

3.
Chinese Journal of Schistosomiasis Control ; (6): 448-452, 2020.
Article in Chinese | WPRIM | ID: wpr-829567

ABSTRACT

Trichinellosis is a worldwide zoonotic parasitic disease, which may infect humans and a wide range of animals, including carnivores, herbivores and even birds. Humans get infections through ingestion of raw or semi-cooked meat or meat products containing live Trichinella larvae. Currently, this zoonosis is predominantly prevalent in southwestern, northeastern and central parts of China, which poses a great threat to human health and socioeconomic development. In addition, the emergent public health hazards caused by trichinellosis outbreaks greatly threaten human health and social stability. This review describes the current status, diagnosis, treatment and control measures of trichinellosis in China, so as to provide insights into trichinellosis control in the country.

4.
Chinese Journal of Contemporary Pediatrics ; (12): 1245-1250, 2020.
Article in Chinese | WPRIM | ID: wpr-879784

ABSTRACT

OBJECTIVE@#To investigate the incidence rate of infectious diseases during hospitalization in late preterm infants in Beijing, China, as well as the risk factors for infectious diseases and the effect of breastfeeding on the development of infectious diseases.@*METHODS@#Related data were collected from the late preterm infants who were hospitalized in the neonatal wards of 25 hospitals in Beijing, China, from October 23, 2015 to October 30, 2017. According to the feeding pattern, they were divided into a breastfeeding group and a formula feeding group. The two groups were compared in terms of general status and incidence rate of infectious diseases. A multivariate logistic regression analysis was used to investigate the risk factors for infectious diseases.@*RESULTS@#A total of 1 576 late preterm infants were enrolled, with 153 infants in the breastfeeding group and 1 423 in the formula feeding group. Of all infants, 484 (30.71%) experienced infectious diseases. The breastfeeding group had a significantly lower incidence rate of infectious diseases than the formula feeding group (22.88% vs 31.55%, @*CONCLUSIONS@#Breastfeeding can significantly reduce the incidence of infectious diseases and is a protective factor against infectious diseases in late preterm infants. Breastfeeding should therefore be actively promoted for late preterm infants during hospitalization.


Subject(s)
Female , Humans , Infant , Infant, Newborn , Male , Pregnancy , Beijing/epidemiology , Breast Feeding , China/epidemiology , Communicable Diseases/epidemiology , Hospitalization , Hospitals , Incidence , Infant, Premature
5.
Chinese Journal of Cardiology ; (12): 484-488, 2020.
Article in Chinese | WPRIM | ID: wpr-941135

ABSTRACT

Objective: To evaluate long-term clinical outcomes of consecutive patients treated with coronary artery bypass grafting (CABG) and percutaneous coronary intervention(PCI) with drug-eluting stents(DES) for ostial/shaft lesions in unprotected left main coronary artery(ULMCA). Method: A total of 259 patients with isolated ostial/midshaft lesions in unprotected left main coronary artery were enrolled consecutively who received DES implantation or underwent CABG between January 2003 and July 2009 in Beijing Anzhen Hospital. The endpoints of the study were death, repeat revascularization, myocardial infarction (MI) and stroke. Time to the primary endpoint was evaluated according to the Kaplan-Meier method, and the log-rank test was applied to compare the incidence of the endpoint. Adjusted risks for adverse outcomes were compared by multivariate Cox proportional hazard regression analyses. Results: A total of 259 patients were included, including 149 in PCI group and 110 in CABG group. And 193(74.5%) cases were males.The age was (61.4±9.8) years old. The median follow-up was 10.1 years (interquartile range 8.3 to 11.2 years) in the overall patients. There were no significant difference for the incidence of death [37.0% vs. 43.1% ,P=0.143] , MI [34.0% vs. 19.4% ,P=0.866], stroke [6.4% vs. 11.7% , P=0.732], repeart revascularization [33.6% vs. 39.9% ,P=0.522] between PCI group and CABG group before multivariate adjusting,according to the incidence calculated with Kaplan-Meier. After adjusting covariates such as age, left ventricular ejection fraction(LVEF) and serum creatine with multivariate Cox hazard regression model, there was still no significant difference between the two groups. Conclusions: PCI with DES is as effective and safe as CABG in patients with left main ostium/shaft lesion during a median follow-up of 10.1 years.


Subject(s)
Aged , Humans , Male , Middle Aged , Coronary Artery Bypass , Coronary Artery Disease/surgery , Kaplan-Meier Estimate , Percutaneous Coronary Intervention , Risk Factors , Stroke Volume , Treatment Outcome , Ventricular Function, Left
6.
Journal of Experimental Hematology ; (6): 958-963, 2019.
Article in Chinese | WPRIM | ID: wpr-771855

ABSTRACT

OBJECTIVE@#To investigate the effects of Listeria monocytogenes infection on hematopoietic stem and progenitor cell (HSPC) composition, cell cycle and cell colony-forming ability in mouse bone marrow.@*METHODS@#The C57BL/6J mice were divided into infected group and control group. The mice in injected group were infected intraperitoneally with 6.7×10 CFU Listeria monocytogenes,while the mice in control group were injecfed with PBS of same volume.The serum levels of IFNγ were detected at different time points. After 24 hours, the HS/PC composition, cell cycle and cell colony-forming ability in bone marrow of mice were measured, and the difference between the control group and the infected group was statistically analyzed.@*RESULTS@#Serum IFNγ levels peaked at 24 hours after infection with Listeria monocytogenes. After 24 h, the proportion of LSK, LSK in S phase, and short-term hematopoietic stem cells (ST-HSC) in the infected group were significantly higher than those in the control group (P<0.001), long-term hematopoietic stem cells (LT-HSC) and the proportion of LT-HSC in S phase were significantly increased (P<0.01), and the cell colony-forming ability of bone marrow significantly decreased (P<0.01). [WTHZ]Conclusion: [WTB1]After infection with Listeria monocytogenes, bone marrow hematopoietic stem cells enter the proliferative state from rest, the cell colony-forming ability decreases, suggesting that Listeria monocytogenes infection can cause hematopoietic stem cell depletion.


Subject(s)
Animals , Mice , Bone Marrow , Bone Marrow Cells , Cell Differentiation , Cell Proliferation , Hematopoietic Stem Cell Transplantation , Hematopoietic Stem Cells , Mice, Inbred C57BL
7.
Military Medical Sciences ; (12): 44-48, 2018.
Article in Chinese | WPRIM | ID: wpr-694313

ABSTRACT

Objective To construct BRCC3(BRCA1/BRCA2-containing complex subunit 3)gene knockout mice and preliminarily study the phenotypes.Methods Using the Cas9/sgRNA-Mediated genome Editing, the BRCC3 knockout mouse models were constructed.Genomic DNAs of mouse tail tissues were extracted and identified, the genotypes of mice were determined at the DNA level,and RNAs and proteins of tissues, such as the heart, liver, spleen, lung, kidney of mice were extracted and the expression of BRCC3 gene was detected by real-time-PCR and Western blotting(WB).The trend of relative body mass change and indexes that might affect the growth development and metabolism were observed. Major organs were hematoxylin-eosin(HE)stained and observed.The routine blood test of peripheral blood of mice was conducted.Results The mouse model of BRCC3 knockout was successfully constructed.BRCC3 knockout mouse survived and were fertile, indexes of blood lipid and liver function were normal, organs were not degenerative and indexes of peripheral blood in routine blood test were all in the normal range.The relative body mass of BRCC3 knockout mice was higher than that of wild type mice,and the level of serum cholesterol was increased.Conclusion BRCC3 may be involved in relative body mass regulation and cholesterol metabolism in mice.

8.
Chinese Journal of Infection Control ; (4): 965-968, 2018.
Article in Chinese | WPRIM | ID: wpr-701629

ABSTRACT

Objective To study the effect of operating rooms of two different cleanliness on surgical site infection (SSI)in neurosurgical craniocerebral operation,provide reference for the prevention and control of SSI.Methods Neurosurgical craniocerebral operation undertaking in grade I and II operating rooms in a hospital between July 2015 and July 2016 was performed retrospective study,patients in grade I operating rooms were as control group and those in grade II operating rooms were as trial group,occurrence of SSI was compared between two groups of pa-tients.Results A total of 454 patients undergoing craniocerebral operation were investigated,212 patients were in control group (grade I operating rooms)and 242 in trial group (grade II operating rooms).Patients in control group had 25 cases of SSI,incidence of SSI was 11.79%;trial group had 31 cases of SSI,incidence of SSI was 12.81%. Nine cases of SSI were superficial incision infection,there was no deep incision infection,the other 47 cases of SSI were intracranial infection(organ space infection).There was no significant difference in the incidence of SSI be-tween two groups of patients(P>0.05).Conclusion Grade I and II cleanliness operating rooms have no direct effect on SSI in patients undergoing neurosurgical craniocerebral operation,comprehensive prevention and control mea-sures should be taken to prevent the occurrence of SSI.

9.
Biomedical and Environmental Sciences ; (12): 579-585, 2018.
Article in English | WPRIM | ID: wpr-690616

ABSTRACT

<p><b>OBJECTIVE</b>To investigate genetic and antibiotic resistance characteristics of Campylobacter jejuni (C. jejuni) isolated from Shenzhen.</p><p><b>METHODS</b>Multilocs sequence typing and agar dilution methods were used to define the genotype and antibiotic resistance of C. jejuni, respectively.</p><p><b>RESULTS</b>In total, 126 C. jejuni strains were isolated. The prevalence of C. jejuni was 5.3% in diarrheal patients. The prevalence in poultry meat (36.5%) was higher than that in cattle meat (1.1%). However, the prevalence in poultry cloacal swabs (27.0%) was lower than that in cattle stool (57.3%). Sixty-two sequence types were obtained, among which 27 of the STs and 10 alleles were previously unreported. The most frequently observed clonal complexes were ST 21 (11.9%), ST-22 (10.3%), and ST-403 (7.1%). ST-21, ST-45, ST-354, ST-403, and ST-443 complexes overlapped between isolates from patients and cattle, whereas ST-45 and ST-574 complexes overlapped between isolates from patients and poultry. All C. jejuni were resistant to at least one antibiotic. The highest resistance rate was toward ciprofloxacin (89.7%), followed by tetracycline (74.6%), and nalidixic acid (69.0%).</p><p><b>CONCLUSION</b>This is the first report of the genotypes and antibiotic resistance of C. jejuni in Shenzhen. Overlapping clonal complexes were found between isolates from patients and cattle, and between patients and poultry.</p>

10.
Journal of Experimental Hematology ; (6): 1173-1178, 2016.
Article in Chinese | WPRIM | ID: wpr-246796

ABSTRACT

<p><b>OBJECTIVE</b>To construct the ovexpression lentivirus vector of PPP2Cβ, the catalytic subunit of protein phosphatase 2A, so as to obtain high-titer packaged lentivirus particles, and to examine the effect of PPP2Cβ on the erythroid differentiation Methods: The CDS of PPP2Cβ was cloned into the second generation of lentivirus vector FUGW, which should be used to co-transfect HEK 293T cells with the lentiviral expression vector and packaging vectors including pMD2G and pSPAX2. Lentiviruses were harvested at 36 and 48 hours after transfection. Titers of viral stock were determined by using flow cytometric analysis. The Western blot was performed to detect the expression level of PPP2Cβ in K562 cells transinfected with the lentiviruses. Benzidine staining and real-time PCR analysis were used to assess the erythroid differentiation of K562 cells.</p><p><b>RESULTS</b>The PPP2Cβ overexpressing lentivirus vectors were constructed, the high-titer lentiviral particles were obtained, and then the PPP2Cβ overexpression K562 cell line was established and promote erythroid differentiation of K562 cells.</p><p><b>CONCLUSION</b>This study suggests that overexpression PPP2Cβ can promote K562 cell erythroid differentiation.</p>


Subject(s)
Humans , Cell Differentiation , Erythroid Cells , Genetic Vectors , K562 Cells , Lentivirus , Protein Phosphatase 2 , Real-Time Polymerase Chain Reaction , Transfection
11.
Chinese Medical Journal ; (24): 763-770, 2016.
Article in English | WPRIM | ID: wpr-328158

ABSTRACT

<p><b>BACKGROUND</b>There are limited data on longer-term outcomes (>5 years) for patients with unprotected left main coronary artery (ULMCA) disease who underwent percutaneous coronary intervention (PCI) in the drug-eluting stents (DES) era. This study aimed at comparing the long-term (>5 years) outcomes of patients with ULMCA disease underwent PCI with DES and coronary artery bypass grafting (CABG) and the predictors of adverse events.</p><p><b>METHODS</b>All consecutive patients with ULMCA disease treated with DES implantation versus CABG in our center, between January 2003 and July 2009, were screened for analyzing. A propensity score analysis was carried out to adjust for potential confounding between the two groups.</p><p><b>RESULTS</b>Nine hundred and twenty-two patients with ULMCA disease were enrolled for the analyses (DES = 465 vs. CABG = 457). During the median follow-up of 7.1 years (interquartile range 5.3-8.2 years), no difference was found between PCI and CABG in the occurrence of death (P = 0.282) and the composite endpoint of cardiac death, myocardial infarction (MI) and stroke (P = 0.294). Rates of major adverse cardiac and cerebrovascular events were significantly higher in the PCI group (P = 0.014) in large part because of the significantly higher rate of repeat revascularization (P < 0.001). PCI was correlated with the lower occurrence of stroke (P = 0.004). Multivariate analysis showed ejection fraction (EF) (P = 0.012), creatinine (P = 0.016), and prior stroke (P = 0.031) were independent predictors of the composite endpoint of cardiac death, MI, and stroke in the DES group, while age (P = 0.026) and EF (P = 0.002) were independent predictors in the CABG group.</p><p><b>CONCLUSIONS</b>During a median follow-up of 7.1 years, there was no difference in the rate of death between PCI with DES implantation and CABG in ULMCA lesions in the patient cohort. CABG group was observed to have significantly lower rates of repeat revascularization but higher stroke rates compared with PCI. EF, creatinine, and prior stroke were independent predictors of the composite endpoint of cardiac death, MI, and stroke in the DES group, while age and EF were independent predictors in the CABG group.</p>


Subject(s)
Aged , Female , Humans , Male , Middle Aged , Coronary Artery Bypass , Coronary Artery Disease , Therapeutics , Drug-Eluting Stents , Percutaneous Coronary Intervention , Stroke Volume
12.
Journal of Southern Medical University ; (12): 1667-1671, 2016.
Article in Chinese | WPRIM | ID: wpr-256541

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the expression of mir-106b in esophageal squamous cell carcinoma (ESCC) tissue and analyze its correlation with the clinicopathologic features of ESCC.</p><p><b>METHODS</b>A total of 200 fresh surgical specimens of ESCC and adjacent tissues collected between 2001 and 2007 were examined for expressions of mir-106b using real-time PCR (RT-PCR). Northern blot analysis for mir-106b was performed in 4 pairs of samples to confirm the RT-PCR results. The relationship between mir-106b expression and clinicopathological features and prognosis of the patients were analyzed.</p><p><b>RESULTS</b>Mir-106b was expressed at significantly higher levels in ESCC tissues than in the paired adjacent tissues. Overexpression of mir-106b was associated with lymph node metastasis, stage of TNM classification and smoking (P<0.05). The survival rate of patients with low mir-106b expression was higher than that of patients with high mir-106b expression (60 vs 37 months, P=0.024). Cox regression analysis indicated that the expression of mir-106b, lymph node metastasis and smoking were independent prognostic factors for ESCC (P<0.05).</p><p><b>CONCLUSION</b>Mir-106b is overexpressed in ESCC tumors, and its overexpression is strongly associated with lymph node metastasis and a poor prognosis. Mir-106b expression is an independent prognostic factor for ESCC and can serve as a biomarker for diagnosis and prognostic evaluation of ESCC.</p>

13.
Chinese Medical Journal ; (24): 2176-2182, 2015.
Article in English | WPRIM | ID: wpr-335637

ABSTRACT

<p><b>BACKGROUND</b>The SYNergy between percutaneous coronary intervention with TAXus and cardiac surgery Score II (SS-II) can well predict 4-year mortality in patients with complex coronary artery disease (CAD), and guide decision-making between coronary artery bypass graft surgery and percutaneous coronary intervention (PCI). However, there is lack of data regarding the utility of the SS-II in patients with three-vessel CAD undergoing PCI treated with second-generation drug-eluting stents (DES). The purpose of the present study was to evaluate the ability of the SS-II to predict long-term mortality in patients with three-vessel CAD undergoing PCI with second-generation DES.</p><p><b>METHODS</b>Totally, 573 consecutive patients with de novo three-vessel CAD who underwent PCI with second-generation DES were retrospectively studied. According to the tertiles of the SS-II, the patients were divided into three groups: The lowest SS-II tertile (SS-II ≤20), intermediate SS-II tertile (SS-II of 21-31), and the highest SS-II tertile (SS-II ≥32). The survival curves of the different groups were estimated by the Kaplan-Meier method. Univariate and multivariate Cox proportional hazard regression analyses were performed to evaluate the relationship between the SS-II and 5-year mortality. The performance of the SS-II with respect to predicting the rate of mortality was studied by calculating the area under the receiver operator characteristic (ROC) curve. The predictive ability of the SS-II for 5-year mortality was evaluated and compared with the SS alone.</p><p><b>RESULTS</b>The overall SS-II was 27.6 ± 9.0. Among patients in the lowest, intermediate and the highest SS-II tertiles, the 5-year rates of mortality were 1.6%, 3.2%, and 8.6%, respectively (P = 0.003); the cardiac mortality rates were 0.5%, 1.9%, and 5.2%, respectively (P = 0.014). By multivariable analysis, adjusting for the potential confounders, the SS-II was an independent predictor of 5-year mortality (hazard ratio: 2.45, 95% confidence interval: 1.38-4.36; P = 0.002). The SS-II demonstrated a higher predictive accuracy for 5-year mortality compared with the SS alone (the area under the ROC curve was 0.705 and 0.598, respectively).</p><p><b>CONCLUSION</b>The SS-II is an independent predictor of 5-year mortality in patients with three-vessel CAD undergoing PCI treated with second-generation DES, and demonstrates a superior predictive ability over the SS alone.</p>


Subject(s)
Aged , Female , Humans , Male , Middle Aged , Coronary Disease , Mortality , General Surgery , Drug-Eluting Stents , Follow-Up Studies , Percutaneous Coronary Intervention , Mortality , Retrospective Studies
14.
Chinese Journal of Contemporary Pediatrics ; (12): 518-523, 2014.
Article in Chinese | WPRIM | ID: wpr-269440

ABSTRACT

The clinical data of three Chinese children who had been definitely diagnosed with X-link dominate hypophosphatemic rickets (XLH) by gene mutation analysis of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) were retrospectively studied and the relevant literature was reviewed. PHEX gene mutations were detected in all 3 XLH children; a nonsense mutation (c.58C>T) in one case and splicing mutations (c.1645+1G>A, c.436+1G>A) in the other two cases. Among these mutations, c.436+1G>A was novel. As of January 2014, a total of 329 PHEX gene mutations were reported, primarily within three mutation hot spots, throughout the world. Missense mutations accounted for the highest proportion (24%) among all mutations. There is literature showing geographic differences in the total number of XLH subjects and PHEX mutation types across the world. In the current literature, 89 cases of XLH with 28 types of PHEX mutations have been reported in the population of mainland China. Exon 22 is the most frequent mutation site (18%) and missense mutations are the most common type of mutations (61%). It is concluded that exon 22 is the mutation hot spot and missense mutation is the most common type of mutation in the PHEX gene in Chinese XLH patients and that c.436+1G>A detected in this study is a novel PHEX gene mutation in Chinese with XLH.


Subject(s)
Child , Child, Preschool , Female , Humans , Male , Familial Hypophosphatemic Rickets , Genetics , Mutation , PHEX Phosphate Regulating Neutral Endopeptidase , Genetics
15.
Chinese Journal of Analytical Chemistry ; (12): 423-428, 2014.
Article in Chinese | WPRIM | ID: wpr-443707

ABSTRACT

A high performance liquid chromatography-tandem mass spectrometric( HPLC-MS/MS) method was developed for the simultaneous determination of four phenolic and salicylanilide anthelmintics including nitroxinil, oxyclozanide, closantel and rafoxanide in cattle and ovine tissues. Muscle, liverand kidney were extracted with acetonitrile-acetone(60:40, V/V)and fat with 1% triethylamine in acetonitrile, then the extract was purified with MAX solid-phase extraction column. Qualitative and quantitative analysiswas achieved by HPLC-MS/MS undernegative multiple reaction monitoring ( MRM) mode. Good correlation coefficients were obtained (R>0. 99) in the concentration range of 1-100 μg/L. The limits of detection (LOD) and limits of qualification (LOQ) for the four compounds were 1 and 2. 5 μg/kg, respectively. The mean recoveries at the four levels of LOQ, 0. 5 maximum residue limit (MRL), MRL, 2MRL were between 71% and 112%,with the intra-day relative standard deviation(RSD)in the range of 1. 1%-14. 0%and inter-day RSD in the range of 6. 4%-14. 7%. Forty samples from the market were analyzed with the method, only two samples were found to show phenolic and salicylanilide anthelmintics residues.

16.
Chinese Medical Journal ; (24): 1934-1938, 2013.
Article in English | WPRIM | ID: wpr-273068

ABSTRACT

<p><b>BACKGROUND</b>It is well recognized that meteorological factors have important infuences on the onset and development of many kinds of diseases. The present study was undertaken to investigate the effects of the meteorological elements on admission rates of cerebral infarction patients with hypertensive nephropathy at Changchun city, Jilin Province, northeast China.</p><p><b>METHODS</b>A total of 763 medical records of inpatients from nine hospitals at Changchun city, during a period from April 6 to April 17 in 2010, were reviewed. These patients were admitted to hospitals due to the occurrence of cerebral infarction. The hypertensive nephropathy was evidenced with certain diagnosis of essential hypertension and hypertension-related kidney injuries. The cerebral infarction was diagnosed according to the World Health Organization (Stroke) standard. All the meteorological data were from practical monitoring records in Jilin Province Meteorological Observatory. The relationships between the epidemiological prevalence of cerebral infarction and meteorological variables were analyzed using the time series models of statistics.</p><p><b>RESULTS</b>Compared with admission rates before the violent change in meteorological status (April 6 to April 17, 2010), the number of admission patients suffering from cerebral infarction remarkably peaked on April 12. Such an increase was highly correlated with heavy precipitation, elevation of daily average relative humidity, and reduction of average daily air temperature. With the betterment of the meteorological conditions on April 17, the admission rates of cerebral infarction patients dropped to the same level as the dates before snowing (April 6 to April 11).</p><p><b>CONCLUSIONS</b>The meteorological changes are highly associated with the occurrence of cerebral infarction in patients with hypertensive renal injury in northeast China. This study also suggested that an intensive medical interference for those patients with hypertension-induced organ injuries is very necessary in preventing the occurrence of cerebral infarction with hypertensive nephropathy when there is a violent change in meteorological condition.</p>


Subject(s)
Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Cerebral Infarction , China , Hospitalization , Hypertension, Renal , Meteorological Concepts , Nephritis , Patient Admission
17.
Chinese Journal of Pediatrics ; (12): 684-687, 2013.
Article in Chinese | WPRIM | ID: wpr-275642

ABSTRACT

<p><b>OBJECTIVE</b>The purpose of this study was to investigate the clinical and genetic characteristics of autosomal recessive polycystic kidney disease.</p><p><b>METHOD</b>Targeted sequencing was used on a children who was accurately diagnosed as autosomal recessive polycystic kidney disease in Peking Union Medical College Hospital to analyze the major clinical manifestations of the disease. An analysis of the PKHD1 genes was made on the patient, and then verified by polymerase chain reaction (PCR). And the related literature was reviewed also.</p><p><b>RESULT</b>The patient was a boy, 2 years and 3 months old, and had abdominal distention for about one year. The abdominal ultrasound suggested diffuse liver lesions, mild intrahepatic bile duct dilatation, structure disturbance of both kidneys, appearance of multiple strong echo. The child was clinically highly suspected of polycystic kidney disease. Targeted sequencing showed two mutations in exon 32 and exon 50 of PKHD1 gene, respectively, c.4274T > G, leading to p.Leu1425Arg, c.7973T > A, leading to p.Leu2658Ter. Verified by PCR, the father has one mutation of c.4274T > G.</p><p><b>CONCLUSION</b>The clinical manifestations of autosomal recessive polycystic kidney disease are multiple renal cyst, cyst of liver and liver fibrosis, intrahepatic bile duct dilatation. Two mutations (c.4274T > G, c.7973T > A) in PKHD1 gene may be pathogenic.</p>


Subject(s)
Child, Preschool , Humans , Male , DNA Mutational Analysis , Exons , Genetics , Kidney , Diagnostic Imaging , Pathology , Liver , Diagnostic Imaging , Pathology , Liver Cirrhosis , Pathology , Mutation , Polycystic Kidney, Autosomal Recessive , Diagnosis , Genetics , Pathology , Polymerase Chain Reaction , Receptors, Cell Surface , Genetics , Sequence Homology, Amino Acid , Ultrasonography
18.
Chinese Medical Journal ; (24): 704-709, 2011.
Article in English | WPRIM | ID: wpr-321434

ABSTRACT

<p><b>BACKGROUND</b>The Syntax score was recently developed as a comprehensive, angiographic tool grading the complexity of coronary artery disease (CAD). It aims to assist in patient selection and risk stratification of patients with extensive CAD undergoing revascularization. However, the prognostic value of the Syntax score in patients undergoing percutaneous coronary intervention (PCI) has not been validated. The aim of this study was to evaluate its role in predicting long-term incidences of major adverse cardiac and cerebrovascular events (MACCE) in patients undergoing PCI for 3-vessel disease.</p><p><b>METHODS</b>Two hundred and three consecutive patients with de novo 3-vessel CAD undergoing PCI with sirolimus-eluting stents were studied. Their angiograms were scored according to the Syntax score. The patients were divided into tertiles according to the Syntax score: lowest Syntax score tertile (Syntax score ≤ 22), intermediate Syntax score tertile (Syntax score of 23 to 32), and the highest Syntax score tertile (Syntax score ≥ 33). During the 1-year follow-up, the MACCE-free survival curves were estimated by the Kaplan-Meier method. Univariate and multivariate Cox proportional hazard regression analyses were performed to evaluate the relation between the Syntax score and the incidence of MACCE. Performance of the Syntax score was studied with respect to predicting the rate of MACCE by receiver operator characteristic (ROC) curves with an area under the curve.</p><p><b>RESULTS</b>The overall Syntax score ranged from 6 to 66 with mean ± standard deviation of 27.9 ± 12.6 and a median of 26. At 1 year, the Syntax score significantly predicted the risk of MACCE (HR 1.07/U increase, 95%CI 1.04 to 1.11, P < 0.001). The rate of MACCE was significantly increased among patients in the highest Syntax score tertile (17.9%) as compared with those with the lowest Syntax score tertile (1.4%, P < 0.001) or intermediate Syntax score tertile (6.2%, P = 0.041). After the adjustment for all potential confounders, the Syntax score remained a significant predictor of the rate of MACCE (adjusted HR 1.12/U increase, 95%CI 1.05 to 1.20, P < 0.001). The Syntax score accurately predicted MACCE with an area under the receiver operator curve of 0.77 (95%CI 0.65 to 0.90, P < 0.001). A Syntax score of 29.5 was identified as the optimal cutoff to predict MACCE with a sensitivity of 82.4% and specificity of 65.6%.</p><p><b>CONCLUSION</b>The Syntax score predicts the risk of MACCE in patients with 3-vessel disease undergoing PCI.</p>


Subject(s)
Adult , Female , Humans , Male , Middle Aged , Angioplasty, Balloon, Coronary , Methods , Coronary Artery Disease , Pathology , Therapeutics , Treatment Outcome
19.
Chinese Journal of Epidemiology ; (12): 274-278, 2011.
Article in Chinese | WPRIM | ID: wpr-295943

ABSTRACT

Objective To study the spatiotemporal trend of Japanese encephalitis in Guangxi Zhuang Autonomous Region between 1989 and 2006.Methods Retrospective space-time permutation scan statistic and inverse distance weighted (IDW) interpolation were employed to detect the spatiotemporal trend of Japanese encephalitis in Guangxi,from the year 1989 to 2006.Results The spatiotemporal pattern of Japanese encephalitis was divided into four phases by IDW interpolation maps,from 1989 to 2006.The first phase was spatiotemporal cluster located in southeast region,from 1989 to 1996.The second phase showed discrete distribution from 1997 to 1998.The third phase of spatiotemporal cluster located in Lingshan county,Pubei county and Bobai county,in 1999.And the last phase was spatiotemporal cluster located in northwest region from 2000 to 2006.Three statistically significant spatiotemporal clusters were detected by retrospective space-time permutation scan statistic.The primary cluster appeared in 1999 (LLR=253.25,P=0.001,RR=4.62),with 109°54′ E,22°28′ N (located in Pubei county) as its center and radiated 45.24 km.From 2000 to 2006,the secondary cluster showed in northwest (LLR=75.91,P=0.001,RR = 1.88),with center located at 105°23′ E,24°68′ N (Longlin county),and radiated 199.85 kn.From 1989 to 1996,the other secondary cluster appeared in the southeast area(LLR=46.29,P=0.001,RR= 1.16),with center located at 110°94′ E,24°03′N(Zhaoping county) and radiated 229.12 km.Conclusion Space-time permutation scan statistic and geographical information system could be applied to quantitatively detect the potentially spatiotemporal trend of the disease.The spatiotemporal cluster shifted from southeast to northwest,from 1989 to 2006.

20.
Journal of Forensic Medicine ; (6): 451-454, 2009.
Article in Chinese | WPRIM | ID: wpr-983525

ABSTRACT

Sudden cardiac death(SCD) from early myocardial ischemia is often lack of typically morphological findings and clinical manifestation, thus cases of SCD may be suspected as criminal cases. It is necessary to clarify the cause of death, which is significance for medico-legal investigation. This article reviewed the latest advancement in the studies on the application of inorganic ions, CK-MB, cTn, ANP and BNP for certification of death from SCD in order to provide a practical way for diagnosis of SCD in forensic pathology.


Subject(s)
Humans , Atrial Natriuretic Factor/metabolism , Autopsy , Biomarkers/metabolism , Calcium/metabolism , Cause of Death , Creatine Kinase, MB Form/metabolism , Death, Sudden, Cardiac/pathology , Forensic Pathology , Myocardial Infarction/pathology , Myocardial Ischemia/pathology , Myocardium/pathology , Natriuretic Peptide, Brain/metabolism , Troponin/metabolism
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