1.Targeted monitoring on ventilator-associated events
Shichao ZHU ; Zhiyong ZONG ; Fu QIAO ; Hui ZHANG ; Jingwen LI ; Lin CAI ; Yuhua DENG ; Weijia YIN
Chinese Journal of Infection Control 2017;16(1):28-31
Objective To monitor ventilator-associated event (VAE) for the first time in an intensive care unit (ICU) in China,understand the applicability,incidence,and clinical significance of VAE in China.Methods Targeted monitoring on VAE was performed among patients ≥18 years and with mechanical ventilation (MV)>2 days in the ICU of a hospital between January 2014 and September 2015,incidence of VAE was calculated,and patients were grouped according to whether or not they had VAE,prognostic factors were analyzed statistically.Results A total of 1 004 patients were monitored,the total hospital stay was 13 795 days in patients who used ventilator,307 (30.58%) cases of VAE occurred,incidence of VAE per 1 000 ventilator-days was 22.25.Univariate analysis showed that patients with VAE had longer length of ICU stay and MV,and higher mortality rate than patients without VAE when they moved out of ICU (all P<0.05).Multivariate logistic regression analysis showed that VAE was independent risk factor for length of ICU stay,duration of MV,as well as mortality when patients moved out of ICU(all P<0.05).Conclusion Judgment of VAE is based on MV parameters,it is more objective and accurate.There is a high incidence of VAE among ICU patients,it may lead to poor clinical outcomes,and has good values for the targeted monitoring on ICU patients in large comprehensive hospitals of China.
2.Evaluation of therapeutic effects of spironolactone on schistosomal pulmonary arterial hypertension by echocardiography
Daoming ZONG ; Xiaogong ZHAO ; Weicheng DENG ; Sixi CHEN ; Keying SUN ; Yuesheng LI
Chinese Journal of Schistosomiasis Control 2006;18(3):207-210
Objective To evaluate the therapeutic effect of spironolactone on schistosomal pulmonary arterial hypertension(SPAH). Methods A total of 62 patients suffered from hepatosplenic schistosomiasis with pulmonary arterial hypertension were divided into the spironolactone group(n=31) and control group (n=31). All the patients underwent serial echocardiography and the clinical effect before and after the treatment was evaluated by assessing the mean pulmonary arterial pressure (mPAP) and pulmonary arterial diameter (PAD). At the same time, the varieties of the clinical symptoms, signs and the distance of the 6-minute walking test (6-MWT) were investigated. Results In spironolactone group, mPAP(-x±s) decreased from (31.8±7.1) mmHg to (21.2±2.1) mmHg, PAD(-x±s) decreased from (28.0±5.0) mm to (20.0±3.5) mm before and after the treatment respectively(P<0.01). There were significant differences in mPAP, PAD, the distance of 6-MWT and the heart function before and after the treatment in the spironolactone group. However, the data did not show the significant difference in the control group. Conclusion The therapeutic effect of spironolactone in the treatment of SPAH is satisfactory.
3.Effect of Comprehensive Rehabilitation on Shoulder Subluxation of Stroke Patients with Hemiplegia
Ai-dong LI ; Hong-tao LIU ; Zong-qing HUANG ; Yingtai DENG ; Guifang WAN
Chinese Journal of Rehabilitation Theory and Practice 2006;12(8):673-674
ObjectiveTo observe the effect of comprehensive rehabilitation on shoulder subluxation of patients with stroke hemiplegia.MethodsComprehensive rehabilitation was practiced on 20 hemiplegic post-stroke patients with shoulder subluxation, including putting injured limb at correct position, keeping the range of passive motion, resistance exercise of scapula muscle group, and shoulder sting. The therapeutic effect was evaluated after 6 weeks treatment.ResultsThere was a significant difference in the shoulder subluxation and movement function of the upper extremities between pre-therapy and after therapy ( P<0.05~0.01).ConclusionComprehensive rehabilitation has obvious therapeutic effect on shoulder subluxation and motor dysfunction of patients with stroke hemiplegia.
4.Clinical and genetic study of an infant with Alagille syndrome: identification of a novel chromosomal interstitial deletion including JAG1 gene.
Hua LI ; Jia-Jia LIU ; Mei DENG ; Li GUO ; Ying CHENG ; Yuan-Zong SONG
Chinese Journal of Contemporary Pediatrics 2017;19(10):1098-1103
Alagille syndrome (ALGS) is an autosomal dominant disease affecting multiple systems including the liver, heart, skeleton, eyes, kidneys and face. This paper reports the clinical and genetic features of an infant with this disease. A 3-month-and-10-day-old female infant was referred to the hospital with jaundiced skin and sclera for 3 months. Physical examination revealed wide forehead and micromandible. A systolic murmur of grade 3-4/6 was heard between the 2th and 3th intercostal spaces on the left side of the sternum. The abdomen was distended, and the liver palpable 3 cm under the right subcostal margin with a medium texture. Serum biochemistry analysis revealed abnormal liver function indices, with markedly elevated bilirubin (predominantly direct bilirubin), total bile acids (TBA) and gamma-glutamyl transpeptidase (GGT). Atrial septal defect and pulmonary stenosis were detected on echocardiography. Next generation sequencing detected entire deletion of the JAG1 gene, and then chromosomal microarray analysis revealed a novel interstitial deletion of 3.0 Mb in size on chr20p12.3p12.2, involving JAG1 gene. The child had special facial features, heart malformations, and cholestasis, and based on the genetic findings, ALGS was definitively diagnosed. Thereafter, symptomatic and supportive treatment was introduced. Thus far, the infant had been followed up till his age of 11 months. The hyperbilirubinemia got improved, but GGT and TBA were persistently elevated, and the long-term outcome needs to be observed. This study extended the JAG1 mutation spectrum, and provided laboratory evidences for the diagnosis and treatment of the patient, and for the genetic counseling and prenatal diagnosis in the family.
Alagille Syndrome
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genetics
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Bile Acids and Salts
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blood
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Child, Preschool
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Chromosome Deletion
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Humans
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Jagged-1 Protein
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genetics
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Male
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gamma-Glutamyltransferase
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blood
5.Association between risk factors of cardiovascular diseases and osteoporosis in postmenopausal Chinese women
Wen-Qiong XUE ; Juan DENG ; Jing-Jing LI ; Jing LIU ; Li-Ping HE ; Zong-Qiu CHEN ; Yu-Ming CHEN
Chinese Journal of Epidemiology 2011;32(6):554-558
Objective To assess the relationship between cardiovascular risk factors and osteoporosis. Methods 2202 women aged 50-73 years were included in this cross-sectional study from the communities in Guangzhou, from July 2008 to January 2010. Cardiovascular risk factors including age, years since menopause, physical activity, anthropometrics, body composition, blood pressure, fasting serum lipids, glucose and uric acid, intima-media thickness(IMT) of carotid artery were assessed. Ultrasonic bone density (speed of sound) at the radius and tibia were determined. Osteoporosis was defined as T-score≤-2.5. Common factors for the cardiovascular risk factors were extracted using the factor analysis method. Results Eight common factors representing obesity, lean mass, blood triglycerides and uric acid, cholesterol, age, blood pressure, IMT and physical activity were extracted. Data from the Multivariate logistic regression showed a dose-dependent association of greater scores of age and IMT factors and lower score of lean mass factor with the increased risk of osteoporosis at the radius and tibia. As compared with the bottom quartile, the OR (95%CI) of radius and tibia osteoporosis were 0.62 (0.44-0.88) and 0.62 (0.48-0.80) for lean mass factor, 4.02 (2.72-5.94) and 3.68(2.81-4.82) for age factor, 1.41 (1.00-2.00) and 1.54 (1.19-2.00) for IMT factors, respectively. Moreover, greater blood pressure score was associated with higher risk of radius osteoporosis while the higher obese score, was correlated with the increased risk of tibia osteoporosis. Conclusion The cardiovascular-related risk factors of greater IMT, obesity, blood pressure and lower lean mass scores were associated with increased osteoporosis risks while called for more concern among the Chinese women.
6.Bone morphogenetic protein signal transduction pathway regulates runx2 expression in MC3T3 -E1 osteoblasts in vitro induced by centrifugation.
Jian GUAN ; Zong-sheng CHENG ; Jian-ping WANG ; De-chao LI ; Hui-xin DENG
West China Journal of Stomatology 2010;28(1):38-44
OBJECTIVETo observe the expression of Runx2 in osteoblasts in response to centrifugation in vitro and discuss the function of bone morphogenetic protein (BMP) signal transduction pathway in this course.
METHODSCells were divided into four groups, group A, B, C and D, pretreated with DMEM containing 10% fetal bovine serum, 10% fetal bovine serum, 100 ng x mL(-1) Noggin and 100 ng x mL(-1) Noggin for 24 hours separately. 271 x g centrifugation was loaded for 5 min to these groups except group A and C, other conditions were the same. The total RNA of each group were extracted, and reversed transcription to cDNA after 30 min. The expression of Runx2 in response to centrifugation in vitro was analyzed by quantitative real time PCR.
RESULTSThe expression of Runx2 mRNA in group B was significantly higher than that in group A (P < 0.05). The expression of Runx2 mRNA in group D was significantly lower than that in group B (P < 0.05). There was no statistically significant difference among group A, C, D (P = 0.692).
CONCLUSIONBMP signal transduction pathway plays an important role in the response of osteoblasts to mechanical stimulations. It may also play a central role in the cascade information dissemination of osteoblasts.
Bone Morphogenetic Protein 2 ; Bone Morphogenetic Proteins ; Cell Differentiation ; Centrifugation ; Core Binding Factor Alpha 1 Subunit ; Gene Expression Regulation ; Humans ; In Vitro Techniques ; Osteoblasts ; RNA, Messenger ; Signal Transduction
7.Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome.
Mei DENG ; Wei-Xia LIN ; Li GUO ; Zhan-Hui ZHANG ; Yuan-Zong SONG
Chinese Journal of Contemporary Pediatrics 2016;18(6):545-550
The aim of this study was to investigate the clinical features and DGUOK gene mutations of an infant with mitochondrial DNA depletion syndrome (MDS). The patient (more than 7 months old) manifested as hepatosplenomegaly, abnormal liver function, nystagmus and psychomotor retardation. Genetic DNA was extracted from peripheral blood samples of the patient and her parents. Targeted Exome Sequencing was performed to explore the genetic causes. Sanger sequencing was carried out to confirm the detected mutations. The sequencing results showed that the patient was a compound heterozygote for c.679G>A and c.817delT in the DGUOK gene. The former was a reportedly pathogenic missense mutation of maternal origin, while the latter, a frameshift mutation from the father, has not been described yet. The findings in this study expand the mutation spectrum of DGUOK gene, and provide molecular evidence for the etiologic diagnosis of the patient as well as for the genetic counseling and prenatal diagnosis in the family.
Female
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Humans
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Infant
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Mitochondrial Diseases
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genetics
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therapy
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Mutation
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Phosphotransferases (Alcohol Group Acceptor)
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chemistry
;
genetics
8.Identification of a novel JAG1 mutation in a family affected by Alagille syndrome.
Ying CHENG ; Shu-Tao ZHAO ; Li GUO ; Mei DENG ; Qing ZHOU ; Yuan-Zong SONG
Chinese Journal of Contemporary Pediatrics 2016;18(11):1130-1135
Alagille syndrome (ALGS) is an autosomal dominant disorder which is mainly caused by JAG1 gene mutation and can affect multiple systems including the liver, heart, eyes, skeleton and face. This paper reports the clinical and genetic features of an ALGS patient. A 2-year-and-9-month-old boy was referred to the hospital with the complaint of abnormal liver function and heart murmur discovered over two years. Jaundice of the skin and sclera was not observed. The child had a prominent forehead, left esotropia, depressed nasal bridge and micromandible. The two lungs were clear on auscultation, but a systolic cardiac murmur of grade 2/6 could be heard between the 2nd and 3rd intercostal space at the left sternal border. Neither abdominal distension nor enlarged liver or spleen was discovered. X-ray radiography uncovered butterfly malformation of the 6th and 8th thoracic vertebrae. Serum biochemistry analysis revealed elevation of total bile acids, bilirubin and transaminases. Based on the clinical characteristics and the consultation opinion of the ophthalmologist, the child was diagnosed to have ALGS with Duane retraction syndrome. DNA direct sequencing detected a novel JAG1 mutation c.2419delG(p.Glu807AsnfsX819) in the child. Symptomatic and supportive therapy was performed thereafter and clinical follow-up was conducted until he was 4 years and 2 months. In the follow-up visits, his general condition remained stable, but the facial malformations, left esotropia, cardiac murmur and abnormal liver function persistend. The long-term outcome needed to be observed.
Alagille Syndrome
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genetics
;
therapy
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Child, Preschool
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Humans
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Jagged-1 Protein
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genetics
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Male
;
Mutation
9.Clinical feature and genetic analysis of a family affected by congenital bile acid synthesis defect type 2: identification of 2 novel mutations in AKR1D1 gene.
Ying CHENG ; Li GUO ; Mei DENG ; Yuan-Zong SONG
Chinese Journal of Contemporary Pediatrics 2017;19(7):734-740
Congenital bile acid synthesis defect type 2 (CBAS2) is an autosomal recessive disorder caused by biallelic mutations of AKR1D1 gene, which encodes the Δ4-3-oxo-steroid 5β-reductase. Cholestatic jaundice is the main clinical manifestation, accompanied by malabsorption of fat and fat-soluble vitamins. This paper reported the clinical and genetic features of a CBAS2 patient definitely diagnosed by AKR1D1 genetic analysis. An 8-month-old male infant was referred to the hospital with the complaint of jaundiced skin and sclera over 7 months. On physical examination, growth retardation and malnutrition were discovered besides mild jaundice of the skin and sclera. The liver was palpable 8 cm below the right subcostal margin with medium texture, and the spleen was not enlarged. On liver function test, elevated levels of bilirubin (predominantly conjugated bilirubin) and transaminases were detected, but serum total bile acids and γ-glutamyl transpeptidase levels were within the normal ranges. Liver histopathologic analysis showed disorganized bile ducts, obvious multinucleated giant cells, significant cholestasis in hepatocytes, together with portal and interstitial fibrosis and lymphocytic infiltration. Via next generation sequencing analysis and Sanger sequencing confirmation, the infant proved to be a compound heterozygote of the AKR1D1 variants c.579+2delT and c.853C>T(p.Q285X), two novel mutations originated from his mother and father, respectively. CBAS2 was thus definitely diagnosed, and chenodeoxycholic acid was given orally. As a result, the abnormal liver function and hepatomegaly were improved gradually. On a follow-up 3 months later, a soft liver was palpable 2.5 cm below the right subcostal margin, and all liver function indices recovered to normal ranges.
Bile Acids and Salts
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blood
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Cholestasis
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blood
;
genetics
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physiopathology
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therapy
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Humans
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Infant
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Liver
;
physiopathology
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Male
;
Mutation
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Oxidoreductases
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blood
;
deficiency
;
genetics
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Steroid Metabolism, Inborn Errors
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blood
;
genetics
;
physiopathology
;
therapy