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1.
Chinese Journal of Neurology ; (12): 918-923, 2020.
Article in Chinese | WPRIM | ID: wpr-870898

ABSTRACT

Objective:To investigate the clinical manifestation, genetic characteristics, treatment and prognosis of Crouzon-like syndrome.Methods:Clinical data of one case of Crouzon-like syndrome diagnosed in Children′s Hospital Affiliated to Zhengzhou University in May 2019 were collected, including clinical test, treatment plan, follow-up outcomes. The clinical characteristics and the mutation characteristics of IL11RA-related Crouzon-like syndrome were analyzed combined with the literature.Results:The male proband, five years and four months old, was admitted with the main clinical manifestations including headache, vomiting, exophthalmos, ocular hypertelorism, nasal root flat and scaphocephaly. CT showed that the cerebellar tonsil moved down slightly, the occipital magnum was full, the bilateral cranial plates were locally thinner, the bilateral cranial diameters were increased, and the cranial seams were closed. Magnetic resonance imaging showed ChiariⅠmalformation. The mutation c.40_63del and splice site mutation c.811-2A>G of the patient′s IL11RA gene were screened by whole exome sequencing. Sanger sequencing showed that the mutations are compound heterozygous and both are first reported. The mutation c.811-2A>G was derived from the patient′s mother, and the other one is de novo.Conclusions:The main clinical manifestations of Crouzon-like syndrome are craniosynostosis and midface hypoplasia and ocular deformity. The study identified two novel mutations in the Crouzon-like syndrome related IL11RA gene. Genetic sequencing is helpful for accurate diagnosis and timely surgical treatment.

2.
Journal of Chinese Physician ; (12): 1157-1162, 2020.
Article in Chinese | WPRIM | ID: wpr-867383

ABSTRACT

Objective:To compare and analyze the clinical efficacy of hand-assisted laparoscopic surgery (HALS) and laparoscopic assisted surgery (LAS) in the treatment of advanced gastric cancer.Methods:Articles of the efficacy comparison of HALS and LAS in D2 radical gastrectomy for gastric cancer from 2000 to 2019 published in PubMed, Cochrane library, EM-BASE, China National Knowledge Infrastructure (CNKI), Wanfang, Weipu, Chinese full-text database of Chinese Sci-Tech journals, Chinese biomedical literature database were retrieved, and the literatures were screened according to the pre-established inclusion and exclusion criteria. The quality of the two groups was evaluated, and the short-term indexes and complications for meta-analysis of the two groups were analyzed by using Revman 5.3 software.Results:A total of 1277 patients were included in 10 articles, including 629 in the HALS group and 648 in the LAS group. The results of the meta-analysis showed that compared with the LAS group, the operation time was shorter in the HALS group (WMD=24.02, 95% CI: -40.41--7.62, P=0.004), but the auxiliary incision was slightly longer (WMD=0.27, 95% CI: 0.06-0.47, P=0.01), and there were no statistically significant difference in the remaining number of lymph node dissections (WMD=0.58, 95% CI: -1.22-2.39, P=0.53), intraoperative blood loss (WMD=-7.94, 95% CI: -16.21-0.33, P=0.06), gastrointestinal tract recovery time (WMD=0.00, 95% CI: -0.03- 0.04, P=0.85), total length of hospital stay (WMD=-0.14, 95% CI0: -0.36-0.09, P=0.23) and postoperative complications ( OR=0.89, 95% CI: 0.58-1.37, P=0.61). Conclusions:Compared with the LAS for D2 radical surgery of advanced gastric cancer, HALS has significantly shorter operation time and is easier to perform than LAS, but the incision length is slightly increased. Physicians can choose the appropriate operation method according to the specific conditions of the operation and themselves.

3.
Article in Chinese | WPRIM | ID: wpr-865471

ABSTRACT

Objective To investigate the factors influencing expansion of Virchow-Robin spaces (VRS) in basal ganglia and central semiovale.Methods One hundred and ninety-six patients with acute single lacunar infarction were analyzed retrospectively from June 2015 to June 2019 in Fukuang General Hospital of Liaoning Health Industry Group (Seventh Clinical College of China Medical University).Among them,108 patients with basal ganglia infarction and 88 patients with central semiovale infarction were included.MRI was used to evaluate the extent of VRS expansion.Univariate analysis and multivariable Logistic regression analysis were used to analyze the related factors affecting VRS expansion in basal ganglia and central semiovah.Results Univariate analysis showed that there were significant differences in the female,proportion of hypertension,systolic blood pressure and body mass index (BMI) between the mild enlarged group (48 cases) and the severe enlarged group (148 cases) of VRS expansion in basal ganglia:22 cases vs.40 cases,35.4%(17/48) vs.78.4%(116/148),(138.7 ± 14.2)mmHg (1 mmHg=0.133 kPa) vs.(150.3 ± 12.0) mmHg and (26.7 ± 2.5) kg/m2 vs.(24.1 ± 2.2) kg/m2,and there were statistical differences (P<0.05 or <0.01);and there were significant differences in the proportion of hypertension,diabetes mellitus and BMI between the mild enlarged group (79 cases) and the severe enlarged group (117 cases) of VRS expansion in central semiovale (P<0.05).Multivariable Logistic regression analysis showed that hypertension (OR=6.383,95% CI 1.942 to 18.204,P=0.005),BMI (OR=0.768,95% CI 0.620 to 0.938,P=0.010) significantly affected the expansion of VRS expansion in basal ganglia,while BMI significantly affected the expansion of VRS expansion in central semiovale (OR=0.784,95% CI 0.642 to 0.921,P=0.003).Conclusions Hypertension is the independent risk factor of VRS expansion in basal ganglia,and BMI is the protective factor of VRS expansion in basal ganglia and central semiovale.

4.
Article in Chinese | WPRIM | ID: wpr-864203

ABSTRACT

A case with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency(HMGCSD)was related and foreign and domestic reported cases were reviewed.The female proband was 7 months and 16 days old, and admitted to the hospital due to acute onset of " fever for 4 days, wheezing for 3 hours, dyspnea and moaning for 2 hours" . She was mainly manifested as encephalopathy, hepatomegaly, liver function damage, low ketone hypoglycemia, and hyperlipidemia.She died of respiratory and circulatory failure on the third day of hospitalization.Two compound he-terozygous variants in HMGCS2 gene were found by total exome sequencing, namely, c.1061+ 1 G> C and c. 476 G> T. HMGCSD could be diagnosed by gene detection in combination with clinical features of the patient. Thirteen literatures related to HMGCSD were collected, including 26 patients in total, with the age of onset ranging from 3 months to 6 years. The main cause of the disease was insufficient intake, mainly manifested as hypoglycemia accompanied by low ketone, hepatomegaly, liver damage, etc. A high level of urinary 4- hydroxy-6- methyl-2- pyrone might be a strong indicator of HMGCSD. Three died during the acute attack. Up to now, there were 32 mutations in HMGCS2 reported in 26 patients, and the main type was missense mutation. In this article, the second case of HMGCSD in China was identified, and 2 novel variants of HMGCS2 were found, which extended the clinical phenotype and mutation spectrum of HMGCSD.

5.
Article in Chinese | WPRIM | ID: wpr-813010

ABSTRACT

To study the protective effect of Xingnaojing Injection on early global brain ischemia-induced deep coma in rats.
 Methods: The deep coma model was induced by global brain ischemia by using four-vessel occlusion method in male SD rats. According to the body weight, the rats were randomly divided into 8 groups: a model control group, three different dose of Xingnaojing Injection (1.8, 3.6 and 5.4 mL.kg-1) groups, a Xingnaojing Injection (3.6 mL.kg-1) plus PI3K inhibitor group, a naloxone injection (0.04 mL.kg-1) group and a naloxone injection (0.04 mL.kg-1) plus Xingnaojing Injection (3.6 mL.kg-1) group (n=8 per group). In addition, eight animals served as the sham group were performed same operation with the model group excepting no blockage of the blood vessels. After the operation, three different doses of Xingnaojing Injection and/or naloxone injection were given intravenously once a day for three days. Ten μL PI3K inhibitor (LY294002, 10 mmol/L) was injected via anterior cerebral ventricle at once after global brain ischemia. The awakening time after the first drug treatment, the grasping power and the autonomous activity within 10 min after the last drug treatment were recorded. The levels of both dopamine (DA) and glutamate (Glu) in cerebrospinal fluid were detected by ELISA. The pathological changes were observed in brain tissue slices with HE staining and the protein levels of Akt/p-Akt and cAMP-response element binding protein (CREB)/p-CREB in hippocampus were detected by Western blotting.
 Results: Comparing with the model group, single administration of Xingnaojing Injection could significantly shorten the waking time (P<0.05) and continuous administration of Xingnaojing Injection for 3 d could increase grasping power, distance, frequency and duration of autonomous activities (P<0.05 or P<0.01) in the deep coma rat. Also, Xingnaojing Injection could inhibit these increases in neurotransmitters DA and Glu contents (P<0.05 or P<0.01), and improve pathological changes of hippocampal tissue. Xingnaojing Injection significantly induced protein phosphorylation of both Akt and CREB (P<0.05 or P<0.01); this effect was inhibited by PI3K inhibitor (P<0.05 or P<0.01). Moreover, the protective effects of naloxone on awakening time, grasping power, the autonomous activity and hippocampus damage in global brain ischemia-induced deep coma could be enhanced by joint use of Xingnaojing Injection (P<0.05 or P<0.01).
 Conclusion: Xingnaojing Injection could significantly improve deep coma induced by global brain ischemia in rat, which is related to inducing PI3K/Akt-dependent protein phosphorylation of CREB, and reducing hippocampal damage. The protective effect of Xingnaojing Injection is synergistically enhanced by naloxone.


Subject(s)
Animals , Brain , Brain Ischemia , Coma , Drugs, Chinese Herbal , Male , Phosphatidylinositol 3-Kinases , Rats , Rats, Sprague-Dawley
6.
Article in Chinese | WPRIM | ID: wpr-752923

ABSTRACT

Objective To analyze the clinical characteristics in children with digestive tract poison-ing in emergency department and discuss the measures of prevention and treatment. Methods Four hundred and seventy-three cases with digestive tract poisoning who visited the emergency department of Zhengzhou Children′s Hospital were retrospectively analyzed from January 2015 to December 2017. The ages,toxic poi-soning causes,types,clinical features, laboratory examinations, hospitalization expenses and outcomes were analyzed. They were divided into drug poisoning and non-drug poisoning group to compare. Results There were 317 (67. 0%) cases aged 6 days to 3 years old,133 (28. 1%) cases aged 3 to 6 years old,23 cases (4. 9%) >6 years old. The incidence rate was similar in each season but slightly lower in winter. There were 462 (97. 7%) cases of accidental poisoning,of which 377 (79. 7%) cases were mistreated and 85 (18. 0%) cases were mistakenly fed by parents,other 11 (2. 3%) cases were non-accidental poisoning. Three hundreds and thirty-six (71. 0%) cases were drug poisoning,and 137 (29. 0%) cases were non-drug poisoning. Drug poisonings were higher in urban children than in rural children, the difference was statistically significant (χ2 =7. 037,P=0. 008). The percentage of digestive symptoms and blood system symptoms in non-drug poi-soning group were higher than those in drug poisoning group,and the differences were statistically significant (54. 0% vs. 8. 3%,χ2 =120. 067,P<0. 001;7. 3% vs. 3. 0%,χ2 =4. 491,P =0. 034). The percentage of cardiovascular system symptoms and respiratory symptoms in the non-drug poisoning group were lower than that in the drug poisoning group,and the differences were statistically significant (1. 5% vs. 14. 9%, χ2 =17. 915,P<0. 001;2. 9% vs. 11. 0%,χ2 =8. 050,P=0. 005). Except for liver function and myocardial en-zyme,the percentage of abnormal laboratory indicators(white blood cells,platelets,blood glucose,lactic acid, electrolyte,coagulation) in non-drug poisoning group were higher than those in the drug poisoning group,and the differences were all statistically significant(all P<0. 05). The hospitalization cost of the non-drug poison-ing group was greater than that of the drug poisoning group,and the difference was statistically significant (Z= -12. 444,P<0. 001). Both in the drug-poisoning group and non-drug poisoning group,the cure or im-provement rate of the <6 h treating group were higher than that of the >6h treating group,and the difference was all statistically significant(all P<0. 05). Conclusion Children with acute gastrointestinal poisoning are mostly infants and preschoolers,mainly accidental poisoning,and often taken by mistake. Drug poisonings are mostly found in cities and non-drug poisonings in rural areas. Non-drug poisoning children have more serious damages and higher hospitalization costs than drug poisoning children. Early treatment after poisoning is an important factor to improve cure rate.

7.
Chinese Journal of Cardiology ; (12): 197-203, 2019.
Article in Chinese | WPRIM | ID: wpr-810501

ABSTRACT

Objective@#Screen the pathogenic genes of a pedigree with clinical manifestation of familial dilated cardiomyopathy in Inner Mongolia.@*Methods@#A total of 3 patients with dilated cardiomyopathy and 20 family members from the same family were examined in Ordos Central Hospital in Inner Mongolia from October, 2003 to August, 2017. Data on medical history, physical examinations, electrocardiograms, and echocardiography were obtained. 5 ml peripheral blood was sampled for per person. Chip Capture Sequencing technology was used to capture all the exons and splice sites of the genes that associated with hereditary cardiomyopathy and hereditary arrhythmia. The mutations in these genes were detected by high-throughput sequencing. All suspected pathogenic loci identified by high-throughput sequencing were verified by Sanger sequencing used for mutation detection. One hundred and fifty gender, age and race matched healthy people were included as the control group.@*Results@#Pathogenic gene variations were detected in 3 symptomatic family members and 1 carrier from the pedigree. Five pathogenic gene variations were identified in the proband (Ⅱ1), a pSer236Gly and a pArg215Cys variation in the MYBPC3 gene, a pGln90Arg variation in the DSP gene, and pAsn2912Asp and pGlu2910Val variation in the DMD gene. One pathogenic variation was detected in Ⅲ3, which was a pArg215Cys variation in the MYBPC3 gene. Two pathogenic variations were detected in Ⅲ7, a pSer236Gly variation in the MYBPC3 gene and a pGln90Arg variation in the DSP gene. Two pathogenic variations were detected in the Ⅳ7, a pSer236Gly variation in the MYBPC3 gene and a pGln90Arg variation in the DSP gene. No gene variation loci were detected in the other family members and the control group.@*Conclusion@#MYBPC3 gene, DSP gene and DMD gene variations are present in the familial dilated cardiomyopathy pedigree from Inner Mongolia, and these variations may be related with familial dilated cardiomyopathy.

8.
Article in Chinese | WPRIM | ID: wpr-704368

ABSTRACT

Objective To compare the graft maturity of the anterior cruciate ligament reconstruction using the oval-shaped tunnel technique and round-shaped tunnel technique by signal/noise quotient (SNQ) of MRI postoperatively.Methods Forty patients diagnosed as the anterior cruciate ligament rupture between August 2015 and June 2016 were included according to the inclusion and exclusion criteria.Patients were randomized into a round-shaped group and an oval-shaped group,undergoing traditional round-shaped tunnel and oval-shaped tunnel reconstruction of the anterior cruciate ligament respectively.One year postoperatively,the MRI was conducted,and three intra-articular regions of interest (ROI) were selected to compare the graft maturity by calculating SNQ.Results None of the forty patients experienced complications of bone tunnel blowout,graft getting through difficulties and neurological or vascular injuries.SNQ of the round-shaped group were 3.72 ± 2.29,significantly higher than that of the oval-shaped group(P<0.001).Moreover,SNQ of proximal ROI and distal ROI of ovalshaped group were 1.97 ± 1.30 and 2.76 ± 1.75,significantly lower than the round-shaped group with proximal site of 3.53 ± 2.11(P=0.008) and distal site of 4.46 ± 2.28(P=0.012).Conclusion Comparing MRI signal intensity one year after the treatment,we have found the graft SNQ after oval-shaped tunnel reconstruction was lower than the round-shaped reconstruction,with better graft maturity.

9.
Article in Chinese | WPRIM | ID: wpr-704360

ABSTRACT

Objective To evaluate the effectiveness of non-operative treatment for the acute intra-synovial sheath anterior cruciate ligament (ACL) rupture.Methods Twenty-eight patients diagnosed as the acute intra-synovial sheath ACL rupture at outpatient clinic between May 2014 and July 2016 were included.All patients were immobilized with knee braces for 6 weeks,followed by range of motion (ROM) training and partial to full weight-bearing of knees.All patients returned 3 months later for MRI scanning and those with the side-to-side difference of the anterior-posterior laxity less than 5 mm continued with non-operative treatment,followed up for MRI examination and clinical assessments 6 and 12 months later.Results Four patients dropped out because they didn't meet the stability criteria at 3 months after the treatment,3 of whom received surgical reconstruction and 1 with muscle strengthening training.Another patient received surgical reconstruction at 5 months due to re-injury.The remaining 23 patients achieved satisfactory results at 12 months after the treatment,with the average side-to-side difference of the anterior-posterior laxity of 2.1mm (0-4 mm),MRI good-to-excellent rate of 85.2% (8 of Grade 1 and 15 of Grade 2),subjective IKDC (International Knee Documentation Committee) score of 92.71 (89.7-98.9),Lysholm score of 91.6 (86-95),and modified Larson score 96.4 (92-99).Conclusions Patients with the acute intra-synovial sheath anterior cruciate ligament (ACL) rupture showed satisfactory functional scores and objective stability and healing on MRI after the non-operative treatment.

10.
Article in Chinese | WPRIM | ID: wpr-505654

ABSTRACT

Purpose Many studies have shown that subclinical left ventricular systolic dysfunction is seen in prediabetic patients.However,its relationship with prognosis is unclear.The purpose of this study is to investigate the prognostic value of subclinical left ventricular systolic dysfunction with prediabetes.Materials and Methods This was a prospective clinical cohort study.A total of 98 prediabetes patients with complete medical record and follow up data in the physical exam center and the clinic of Yan'an People's Hospital were chosen between January 2013 and January 2014.The biochemical data,echocardiography and left ventricular global longitudinal strain (GLS) in 2 years of follow up were collected.The subjects were grouped into diabetes if the diagnosis was confirmed during follow up,or non-diabetes group if not diagnosed.After follow up,the baseline parameters were compared to screen for risk factors to develop clinical diabetes.Results During the study,38 participants were diagnosed as clinical diabetes.Cox proportional hazard regression models show that obesity [hazard ratio (HR):2.662,95% CI 1.374-5.159,P=0.004],waist-hip ratio (HR:1.917,95% CI:1.012-3.492,P=0.001),mitral E/e'ratio (HR:1.661,95% CI:1.336-2.065,P<0.001),HbAlc (HR:2.029,95% CI:1.047-3.932,P<0.001),global longitudinal strain (HR:0.786,95% CI:0.728-0.848,P<0.001) were significant independent predictors for developing diabetes.Using GLS<18% as cutoff value,the area under receiver operating characteristic (ROC) curve to predict development of diabetes was 0.796 (95% CI:0.704-0.888,P<0.001),with sensitivity and specificity of 46.7% and 89.5%,respectively.Conclusion Among modifiable risk factors in patients with prediabetes,subclinical left ventricular systolic dysfunction is an early indicator of progressing to diabetes.Early detection of left ventricular systolic dysfunction in prediabetes can provide the basis for early clinical intervention.

11.
Article in Chinese | WPRIM | ID: wpr-505339

ABSTRACT

Objective To summarize the features of computed tomography (CT) and magnetic resonance imaging (MRI) of autoimmune pancreatitis (AIP) and investigate the key points of diagnosis and identification.Methods The retrospective and descriptive study was conducted.The clinical data of 21 patients with AIP who were admitted to the Affiliated Hospital of Inner Mongolia Medical University between February 2012 and February 2015 were collected.All the patients underwent plain and enhanced scans of CT and MRI,and magnetic resonanced cholangio-pancreatography (MRCP),and then received hormone therapy.Eleven patients with pancreatic cancer and 11 normal subjects who were diagnosed by MRI in the same period were selected,and apparent diffusion coefficient (ADC) was calculated and compared.Observation indicators:(1) situation of imaging examination:① pancreatic manifestations:density,signal,atrophy,calcification and enlargement of pancreas,change of pancreatic duct,② manifestations out of pancreas:changes of biliary tract system and kidney,③ diffusion weighted imaging (DWI) and ADC:comparisons of ADC among AIP,pancreatic cancer and normal pancreas;(2) diagnosis;(3) treatment and follow-up.The follow-up using outpatient examination and telephone interview was performed to detect the clinical symptoms and signs up to February 2016.Measurement data with normal distribution were represented as (-x)-± s.Comparisons among groups were done using one-way ANOVA.Pairwise comparison was analyzed by Dunnett'T3 test.Results (1) Situation of imaging examination:Of 21 patients,17 received scan of CT and 11 received scan of MRI (7 combined with scan of CT).① Pancreatic manifestations:14 patients had diffuse enlargement of pancreas,with full edge and “sausage-like” change.Plain scan of CT showed uniform isodense shadow,and enhanced scan showed that reduced enhancement in arterial phase and gradually homogenous enhancement in portal vein phase and lag phase with no enhancement in edge of pancreas.Plain scan of MRI showed lesions were manifested as slight hypointensity on T1 weighted imaging (T1WI),slight hyperintensity on T2WI and hyperintensity on DWI.Enhanced scan of MRI showed delayed enhancement,edge of lesions was manifested as slight hypointensity on T1WI and T2WI,without enhancement.Atrophy and calcification of pancreas:3 patients had atrophy of pancreatic parenchyma in which scattered calcification were seen.Enlargement of pancreas:4 patients had localized enlargement of pancreas showing “false tumor-like” change,including 2 with localized enlargement in head of pancreas.Change of pancreatic duct:MRCP showed that diffuse stenosis,local stenosis and local dilatation of pancreatic ducts were respectively detected in 4,3 and 1 patients.② Manifestations out of pancreas:11 patients had changes of biliary tract system,showing intrahepatic bile duct and common bile duct dilation,partial stenosis and extensive bile duct wall thickening.Enhanced scan of MRI showed there was obvious enhancement of bile duct wall.MRCP of 4 patients showed that the beak-like stenosis was seen in the distal common bile duct.Three patients had kidney changes,enhanced scan of CT showed that kidney demonstrated patch-shape hypodense shadow in arterial phase and homogenous enhancement of patch-shape hypodense shadow in lag phase,and plain scan of MRI showed that kidney lesions demonstrated equal signal on T1WI fat suppression (FS) and patch-shape low signal on T2WI FS.Lesions had gradually homogenous enhancement in substance phase and lag phase.③ DWI and ADC:lesions in patients with AIP and pancreatic cancer demonstrated high signal on DWI (b =1 000 s/mm2) compared with adjacent tissues (no involvement in pancreas or normal pancreatic parenchyma),ADC of pancreas in patients with AIP,with pancreatic cancer and with normal population was (0.001 30 ± 0.000 35)mm2/s,(0.000 80 ± 0.000 14) mm2/s and (0.001 60-± 0.000 24) mm2/s,respectively,with a statistically significant difference (F =30.409,P < 0.05).There were statistically significant differences between patients with pancreatic cancer and patients with AIP or normal population (P < 0.05) and no statistically significant difference between patients with AIP and with normal population (P > 0.05).(2) Diagnosis:11 patients were diagnosed by CT examination,with a diagnostic accuracy of 11/17.Eight patients were diagnosed by MRI examination,with a diagnostic accuracy of 8/11.One patient was misdiagnosed as cancer of pancreatic head by CT and MRI examinations,and 1 was misdiagnosed as cancer in the distal common bile duct.(3) Treatment and follow-up:21 patients underwent regular hormone therapy,and 40 mg prednisolone was given orally a daily for 3-4 weeks and then gradually reduced to 5 mg up to complete relief of the symptoms.All the 21 patients were followed up for 12-45 months.Of 17 patients with abdominal pain and distension,symptoms of 7 patients disappeared and symptoms of 10 patients decreased or occasionally occurred.Of 10 patients associated with jaundice,symptoms of 7 and 2 patients disappeared and decreased,respectively,and symptoms of 1 patient subsided.Conclusion CT and MRI examinations of pancreas demonstrate “sausage-like” and “false tumor-like” changes,the non-neoplastic bile and pancreatic duct stenosis combined with IgG4 related diseases in other organs is an important imaging evidence for diagnosis and differential diagnosis of AIP.

12.
Article in Chinese | WPRIM | ID: wpr-809471

ABSTRACT

Objective@#To examine the association between polymorphism of rs10185316 in insulin-induced gene 2 (INSIG2) and blood pressure among children and adolescents.@*Methods@#9 junior middle schools in Dongcheng District of Beijing and 5 schools (3 primary junior middle schools, 2 primary schools) in Haidian District of Beijing were chosen in 2005 and 2007, respectively. According to the Chinese BMI percentile criteria for screening overweight and obesity in school children, we recruited 1 425 overweight or obese children and 605 normal weight children. A total of 2 018 students with complete data of blood pressure and genotype data were included in this study. According to the blood pressure criterion of children and adolescents, 702 participants were categorized into high blood pressure group and 1 316 into normal blood pressure group. Participants' information of gender, age, height, weight and blood pressure were collected by questionnaire and physical examination. Genomic DNA was extracted from peripheral blood sample for genotyping of INSIG2 rs10185316 polymorphism. Multiple linear regression was conducted to analyze the associations between rs10185316 polymorphism in INSIG2 and SBP, DBP, mean arterial pressure (MAP) and pulse pressure.@*Results@#The age, BMI, SBP and DBP of the high blood pressure group were separately (14.3±1.4) years old, (27.3±4.2) kg/m2, (130.5±10.9) and (76.7±13.3) mmHg (1 mmHg=0.133 kPa), all higher than that of the normal blood pressure group, which were (12.2±2.9) years old, (22.0±4.0) kg/m2, (104.4±10.9) and(54.6±15.2) mmHg, respectively (all P values<0.001). After age, sex, district and BMI adjusted, compared with the participants carrying INSIG2 rs10185316 CC genotype, CG/GG genotype carriers had lower DBP (β(95%CI):-1.67(-2.84--0.50), P=0.005), higher PP(β(95%CI): 1.91(0.61-3.20), P=0.004), and lower MAP(β(95%CI):=-1.03(-2.01--0.05), P=0.039).@*Conclusion@#INSIG2 rs10185316 polymorphism was associated with DBP, PP and MAP among children and adolescents in an independent way from BMI.

13.
Journal of Clinical Pediatrics ; (12): 195-198, 2017.
Article in Chinese | WPRIM | ID: wpr-515144

ABSTRACT

Objective To explore the clinical features, diagnosis, and treatment of congenital disorder of glycosylation type 1a (CDG-Ⅰa), a rare inherited metabolic disease. Methods The clinical data and the gene detection results of one case of CDG-Ia which was discovered because the case had encephalopathy and hepatopathy were retrospectively analyzed. The related literatures were reviewed. Results Male infant suffered with face and trunk rash, motor development retardation, malnutrition, cheek fat plump, low limbs muscle tone, and bilateral crater nipple at 3 months old. Abnormal liver function and mild renal impairment were found after examination. The development quotient was low. Head MRI showed that bilateral frontal and temporal sulcus widening, and cerebellar atrophy. Urinary organic acids, amino acids, carnitine, and biotin activities were normal. Gene sequencing revealed that there were two heterozygous mutations, c.430T>C (p.F144L) and c.713G>C (p.R238P), in the PMM2 gene. The diagnosis of CDG-Ⅰa was confirmed. Both of the infant's parents were healthy, and each of them carries a pathogenic mutation. The infant had an elder brother who had mental disorder and died for liver and kidney function damage and hydronephrosis at 8 months old. Conclusion CDG-Ⅰa is an autosomal recessive disease. For infants with unexplained multiple organ damage, especially combined with intelligent and motor development retardations, strabismus, nipple retraction, and cerebellar atrophy, the possibility of CDG-Ⅰa should be considered. Gene detection of PMM2 can help the diagnosis.

14.
Article in Chinese | WPRIM | ID: wpr-493798

ABSTRACT

Objective:To explore the association of physical activities,sedentary behaviors with over-weight/obesity in Chinese children aged 9 -1 1 years,analyze the gender difference and heterogeneity of the association across different provinces,and provide evidence for prevention and control of overweight and obesity.Methods:Using the data of 40 692 children aged 9 -1 1 years from Chinese National Survey on Students’Constitution and Health in 201 0,the height and weight were measured and the time spent in physical activities,screen behaviors and homework were collected.We analyzed the associations among physical activities,sedentary behaviors and overweight/obesity in boys and girls separately,and assessed the heterogeneity of associations across different provinces with Meta-analysis.Results:The prevalence of overweight/obesity of the boys (27.1 %)was higher than that of the girls (1 2.9%),compared with the rural students (1 5.6%),the situation of overweight/obesity of the urban students (23.8%)was more serious,the prevalences of overweight/obesity were separately 22.6%,1 9.2% and 1 7.5% among developed,middle-developed and undeveloped social economic status subgroups.The boys with physical activities no more than 1 hour per day were more likely to be overweight/obese,with the OR of 1 .09 (95%CI:1 .02,1 .1 7).The girls with screen time more than 1 hour per day or homework time more than 2 hours per day were more likely to be overweight/obese,with the ORs of 1 .1 3 (95%CI:1 .02, 1 .26)and 1 .1 8 (95%CI:1 .03,1 .35)respectively.The high level of sedentary behaviors (more than 1 35min per day)was associated with overweight/obese in the girls,and the OR was 1 .1 9 (95%CI:1 .08,1 .33).There was no significant heterogeneity of effect values between physical activities and over-weight/obesity in the boys and between sedentary behaviors and overweight/obesity in the girls across the different provinces (P >0.05).Conclusion:The associations among physical activities,sedentary be-haviors and overweight/obesity existed in Chinese children aged 9 -1 1 years,which were different in boys and girls.There was no statistically significant heterogeneity across different provinces.The strate-gies to prevent and control overweight/obesity in primary school students should focus on gender-specific needs.

15.
Article in Chinese | WPRIM | ID: wpr-487383

ABSTRACT

Objective To increase the statistic power to estimate radiation-induced cancer risk on the basis of analysis of the 1999-2002 follow-up data from high background radiation areas (HBRA), in combination with those in the period 1979-1998, and further to estimate radiation-induced cancer risk at low dose after adjustment of individual smoking factor.Methods Cohort studies were conducted of cancer mortality for the residents in both HBRA and control area (CA), with follow-up made in phases.The present study was first focused on the collection of cancer mortality data during 1999-2002, with preliminary analysis of the risks of cancer mortality.And then, the effort was dedicated to analysis of both the risks of cancer mortality and the smoker-adjusted risks of radiation-induced cancer mortality from for the residents in HBRA in period 1999-2002 based on the pooled data during 1999-2002 and 1979-1998 through ID record linkage.Person-years were estimated using Epicure/DATAB model.The relative risk (RR), the excess relative risk coefficient (ERR/Sv) and confidence interval (CI) of cancer mortality from 1979 to 2002 were estimated using Poisson regress model in AMFIT mode.Results A total of 76 264 persons in HBRA and CA was followed up during 1999-2002, covering 300 523 person-years and 2 267 deaths identified, including 239 cancer deaths.Based on pooled data, 125 079 persons were followed up during 1979-2002, which covered 2 293 463 person-years and 14 711 deaths identified, including 1 441 died of cancer.The sex-and age-adjusted RR of all cancers in the HBRA during 1979-2002 was 0.99 (95% CI: 0.89 to 1.11), showing no statistically significant differences between HBRA and CA (P > 0.05).The value of ERR/Sv of all cancer mortality during 1979-2002 was-0.01 (95% CI:-0.50 to 0.64).Smoker-adjusted RR of all cancer mortality in HBRA during 1987-2002 was 1.00 (95% CI:0.87 to 1.15), with no statistically significant difference (P > 0.05).The value of ERR/Sv for all cancers during 1987-2002 was 0.01 (95% CI:-0.56 to 0.81) after adjustment of smoking.Conclusions Increased risk was not found in relation to radiation exposure at low dose in HBRA.After adjustment of smoking, the statistical difference has not been shown in all cancer mortality between HBRA and CA, but excess relative risk increased slightly.

16.
Article in Chinese | WPRIM | ID: wpr-291628

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the influence factors of body image dissatisfaction among children and adolescents with normal weight.</p><p><b>METHODS</b>The primary and middle school students who were selected from Changping district of Bejing city using the stratified cluster sampling method were measured body height, weight, and waist circumference. Body image cognitive attitude of students or their parents was surveyed using 'Ma figural shape'. The cognitive attitude of obesity risk factors was surveyed by self-designed questionnaires. The students with normal weight were selected according to 'reference norm for screening overweight and obesity in Chinese children and adolescents (WGOC) in 2005' and 'reference norm for screening underweight in Chinese children and adolescents aged 6-19 years'. The association between body image dissatisfaction and cognitive attitude of obesity risk factors was analyzed for each gender.</p><p><b>RESULTS</b>The study validly surveyed and measured 680 students, and there were 36.6% (249/680) students with overweight or obesity, 4.0% (27/680) students with underweight, and 59.4% (404/680) students with normal weight. Prevalence of body image satisfaction, expecting to be thinner, and to be fatter in students with normal weight was 32.7% (132/404), 35.1% (142/404), and 32.2% (130/404), respectively. The prevalence of expecting to be thinner in females and middle students was higher than that in males and primary students (46.4% (102/220) vs 21.8% (40/184)), (39.8% (88/221) vs 29.5% (54/183)), respectively; χ² values were 26.65 and 4.67 respectively (P < 0.05). The prevalence of expecting to be fatter in males was higher than that in females ((42.9% (79/184) vs 23.2% (51/220)) (χ² = 17.91, P < 0.001). The concordance ratio on body image cognitive attitude between students and their parent was 60.4% (244/404), and the consistency coefficient was 0.41 (P < 0.001). The factors including parents expecting their children to be thinner, the negative attitude on less drinking sugary beverages and having breakfast per day might increase the risks of children expecting to be thinner in males, the OR (95% CI) value were 5.20 (1.51-17.89), 3.43 (1.11-10.59), and 6.53(1.14-37.58), respectively. The parents expecting their children to be fatter might increase the risk of children expecting to be fatter in males, the OR (95% CI) value were 7.57 (3.47-16.52). The factors including parents expecting their children to be thinner, and the positive attitude on less eating high calorie snacks might increase the risk of children expecting to be thinner in females, the OR (95% CI) value were 65.74 (8.45-511.21) and 3.03 (1.01-9.09), respectively. The parents expecting their children to be thinner or fatter might increase the risk of children expecting to be fatter in females, the OR (95% CI) value were 17.38 (1.53-197.74) and 9.64 (3.98-23.35), respectively.</p><p><b>CONCLUSION</b>The prevalence of body image dissatisfaction among students with normal weight was high, and the concordance ratio on body image cognitive attitude between themselves and their parents was low. Guiding students to have the correct cognitive attitude on less drinking sugary beverages, having breakfast per day, and less eating high calorie snacks may be conducive to prevent body image dissatisfaction.</p>


Subject(s)
Adolescent , Asian Continental Ancestry Group , Body Image , Body Mass Index , Body Weight , Child , Female , Food Preferences , Humans , Male , Obesity , Overweight , Personal Satisfaction , Prevalence , Risk Factors , Students , Surveys and Questionnaires , Young Adult
17.
Chinese Journal of Pediatrics ; (12): 62-65, 2015.
Article in Chinese | WPRIM | ID: wpr-293873

ABSTRACT

<p><b>OBJECTIVE</b>We report the first case of acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA in China.</p><p><b>METHOD</b>The clinical presentation, blood acylcarnitines analysis, urine organic acids analysis and gene studies of the patient were summarized.</p><p><b>RESULT</b>The proband, a boy, was admitted at the age of 15 months because of recurrent vomiting, acidosis and development delay for 8 months. The previously healthy boy presented vomiting and coma just one hour after hepatitis B vaccination at the age of seven months. Moderate dehydration, electrolyte disturbance and metabolic acidosis had been found. Although his acute metabolic crisis had been corrected soon after intravenous transfusion, psychomotor retardation and recurrent vomiting had been observed. When he was 15 months old, vomiting and lethargy occurred again 3 hours after DTaP vaccination. He was weakened as the illness became worse and got coma with dyspnea 7 days later. He was hospitalized with the suspected diagnosis of viral encephalitis. Blood acylcarnitines analysis, urine organic acids analysis and gene study had been performed for the etiologic investigation.His blood propionylcarnitine (16.3 µmol/L vs. normal range 1.0-5.0 µmol/L) and propionylcarnitine/free carnitine ratio (0.27 vs. normal range 0.03 to 0.25) increased. Markedly elevated urinary methylmalonic acid (388.21 mmol/mol creatinine vs. normal range 0.2 to 3.6 mmol/mol creatinine) and normal plasma total homocysteine supported the diagnosis of isolated methylmalonic aciduria. Two mutations, c.650 T>A (p.L217X) and c.742 C>T (p.Q248X), were identified in his MMAA gene, confirmed the diagnosis of cblA. Each parent carried one of the two mutations. Progressive clinical and biochemical improvement has been observed after hydroxylcobalamin injection, protein-restricted diet with the supplements of special formula and L-carnitine. He is currently 2 years and 7 months old with normal development and general condition.</p><p><b>CONCLUSION</b>A boy with cblA was firstly detected after the acute encephalopathy induced by vaccination in China. It is important to pay more attention to the patients with metabolic crisis or organ damage after vaccination. Metabolic studies are keys to the diagnosis of potential diseases and improve the outcome.</p>


Subject(s)
Amino Acid Metabolism, Inborn Errors , Brain Diseases , Carnitine , Diet, Protein-Restricted , Hepatitis B Vaccines , Humans , Infant , Male , Methylmalonic Acid , Urine , Mutation , Vaccination , Vitamin B Complex , Vomiting
18.
Chinese Journal of Epidemiology ; (12): 318-322, 2015.
Article in Chinese | WPRIM | ID: wpr-240103

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the correlation between children and adolescents' body shape parameters and parent's dissatisfaction on it.</p><p><b>METHODS</b>Stratified cluster sampling method was used to select students and their parents, and height, weight, waist circumference (WC), hip circumference (HC), skinfold thichness of the students were measured. Body image from parents was studied through the 'Ma body figural shape'. Correlation between body shape parameters and dissatisfaction towards them from the parents was analyzed under both simple- and multiple-level methods.</p><p><b>RESULTS</b>The overall prevalence of dissatisfaction on body-shapes from parents was 69.0%, including 28.6% of the parents expecting children to be fat (PEBF) while, 40.4% of the parents expecting their children to be thin (PEBT). In males, parameters as height, weight, WC, HC, skin fold thickness, BMI in PEBT were 1.9 cm, 11.9 kg, 13.2 cm, 8.8 cm, 32.3 mm, 4.7 kg/m² respectively, all higher than the satisfaction from the parents (PBIS) (all P < 0.05), and these parameters were 2.3 cm, 7.1 kg, 7.2 cm, 5.8 cm, 14.1 mm, 2.3 kg/m² higher in PBIS than that of PEBF, respectively (all P < 0.05). In females, parameters as weight, WC, HC, skinfold thickness, BMI in PEBT appeared to be 8.6 kg, 9.1 cm, 6.6 cm, 21.9 mm, 3.5 kg/m² higher than that of PBIS (all P < 0.01), and were 5.5 kg, 5.9 cm, 5.4 cm, 10.4 mm, 1.8 kg/m² higher in PBIS than that of PEBF, respectively, plus the difference of height was 3.6 cm more (P < 0.01). Differences of body shape on parameters between PEBT and PBIS were larger in primary school students than in middle school students. However, the differences of body shape parameters between PBIS and PEBF appeared higher in middle school students than in primary school male students, but were higher in female students in primary than in middle school students.</p><p><b>CONCLUSION</b>The prevalence of body dissatisfaction related to children and adolscents' body shape parameters from parents was high. Parents in the PEBT group seemed to have paid more attention to children's body shape parameters at low age. However, parents in PEBF group might have paid more attention to children's body shape parameters at high age in males or at low age in females.</p>


Subject(s)
Adolescent , Body Height , Body Image , Psychology , Body Mass Index , Body Weight , Body Weights and Measures , Child , Female , Hip , Humans , Male , Parents , Psychology , Personal Satisfaction , Skinfold Thickness , Waist Circumference
19.
Article in Chinese | WPRIM | ID: wpr-478578

ABSTRACT

This study was aimed to solve the problem of overall syndrome differentiation information collection on patient’s main complain of traditional Chinese medicine (TCM) four diagnostic methods, in order to make syndrome differentiation standard of premenstrual syndrome (PMS) with liver-qi invasion pattern. The method of cluster sampling was applied in the investigation. The appropriate structural equation modeling (SEM) was established according to multi-dimension indexes of case features and TCM theories. The results of the “information acquisition form for doctor” structural equation showed that emotion dimension, body-symptom dimension, organism condition dimension load coefficients were 0.715, 0.574 and 0.904, respectively. The results of the “information acquisition form for patient” structural equation showed that emotion dimension, body-symptom dimension, organism condition dimension load coefficients were 0.705, 0.945 and 0.848, respectively. There were strong relativities among all dimensions. Combined with TCM theories, the main symptom of identified PMS with liver-qi invasion pattern was “irritable and angry”. And the secondary symptoms contained headache, breast tenderness, distention and pain of lower abdomen and stomach. The combining symptoms were insomnia, dreaminess, swelling of extremities, fatigue, inefficiency for work and housework, hard to focus the attention. It was concluded that the combination of information acquisition method from both the doctor and patient established a relative comprehensive information acquisition system. It established the syndrome differentiation standard of PMS with liver-qi invasion pattern for the first time based on epidemiologic investigation. It provided important reference for the study of PMS subtype.

20.
Article in Chinese | WPRIM | ID: wpr-468067

ABSTRACT

Objective:To analyze the awareness rate of obesity risk factors among children and adoles-cents, and to provide the basis for preventing their obesity. Methods: The students selected by using stratified cluster sampling method, were measured for the body height, weight, and waist circumference, and were surveyed for the awareness rate of obesity risk factors by using the questionnaire. The distribu-tion characteristics of awareness on obesity risk factors were analyzed. Results: The awareness rate of obesity risk factors was 74 . 1%, and there was no significant difference on the awareness rate of obesity risk factors between the males [71. 2% (247/347)] and females [77. 2% (257/333)], the abdominal obesity students [73. 5% (202/275)] and non-abdominal obesity students [74. 6% (302/405)], the overall obesity students [74. 3% (185/249)] and non-overall obesity students [74. 0% (319/431)], re-spectively. However, the awareness rate of obesity risk factors among the primary school students was 81. 9% (272/332) that was higher than that of the middle school students [66. 7% (232/348)] (P<0. 05). Compared with the primary school students, the non-awareness risk of obesity risk factors would in-crease among the middle school students (OR=2. 23, P<0. 05). Conclusion:The overall awareness rate of obesity risk factors is not high among children and adolescents, especially among middle school students.

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