2.Quality control protocol for adult overweight and obesity screening in health management (examination) institutions (2025 edition)
Jianling FAN ; Tiejun WANG ; Pengfei YANG ; Keke DING ; Xiaoning HAO ; Sunfang JIANG ; Ankang LÜ ; Jianping LU ; Sheng RONG ; Weibin SHI ; Shengwei SUN ; Yan TAN ; Qilei TU ; Zhiping WANG ; Bing WANG ; Jianyun WANG ; Weijian WANG ; Yan WANG ; Qun XU ; Chenli ZHANG ; Fan ZHANG ; Ping ZHANG ; Yansong ZHENG ; Jieru ZHOU ; Dan CHEN ; Jiaoyang ZHENG
Chinese Journal of Clinical Medicine 2025;32(6):1097-1111
Obesity, as a chronic recurrent disease, has become a major public health challenge in China. To implement the requirements of the Healthy China Initiative (2019—2030), under domestic guidelines or consensus statements on overweight and obesity, and in alignment with the latest scientific advances globally, the Quality control protocol for adult overweight and obesity screening in health management (examination) institutions (2025 edition) was developed. This protocol was drafted by the Health Management Center of Shanghai Changzheng Hospital and formulated through multiple rounds of deliberation by experts in China’s health examination quality control field. The protocol establishes unified standards for screening facilities, personnel qualifications, and measurement or testing procedures. It defines specific screening items, outlines a standardized screening pathway, and sets requirements for the final medical review, ensuring the scientific validity, effectiveness, and safety of the screening process. The implementation of this protocol will enhance the consistency of weight management practices for adults across health examination institutions and strengthen the quality control of overweight and obesity screening programs.
3.Risk factors for slow-flow or no-reflow during percutaneous coronary intervention in patients with ST-segment elevation acute myocardial infarction:a meta-analysis
Yunfei ZHANG ; Wenjuan YAN ; Hongmei WEN ; Weichen CHEN ; Hongjuan ZHOU ; Qiong HAN ; Jiaoyang XU ; Yingfeng LI
Journal of Interventional Radiology 2025;34(3):243-252
Objective Using meta-analysis to identify the risk factors for slow-flow or no-reflow during percutaneous coronary intervention(PCI)in patients with ST-segment elevation acute myocardial infarction(AMI).Methods A computerized retrieval of academic papers concerning the risk factors for slow-flow or no-reflow during PCI in patients with ST-segment elevation AMI from the databases of CNKI,Wanfang Database,VIP,SinoMed,PubMed,Web of Science,Embase,and Cochrane Library was conducted.The retrieval time period was from the establishment of the database to January 2024.In order to ensure the accuracy and reliability of the study,two independent reviewers screened the literature according to the preset inclusion and exclusion criteria,extracted key data,and strictly evaluated the quality of the literature.RevMan5.4 software was used to make meta-analysis.Results A total of 23 articles with a total of 9 780 cases were included in this analysis.The results of meta-analysis showed that reperfusion time ≥6 h(OR=1.52),preoperative TIMI blood flow≤level-Ⅰ(OR=1.12),heavy thrombus burden(OR=1.60),advanced age(OR=1.56),diabetes(OR=1.83),preoperative Killip grade≥Ⅲ(OR=2.52),long target vessel disease(OR=1.95),and collateral flow≤level-Ⅰ(OR=1.61)were the risk factors for slow-flow or no-reflow during PCI in patients with ST-segment elevation AMI.Preoperative systolic blood pressure<90 mmHg(OR=1.17)and high white blood cell(WBC)count(OR=1.27)were not the risk factors for slow-flow or no-reflow during PCI in patients with ST-segment elevation AMI.Conclusion Reperfusion time ≥ 6 h,preoperative TIMI blood flow≤level-Ⅰ,heavy thrombus burden,advanced age,diabetes,preoperative Killip grade≥level-Ⅲ,long target vessel lesion,and collateral blood flow≤level-Ⅰ are the independent risk factors for slow-flow or no-reflow during PCI in patients with ST-segment elevation AMI.
4.Effects of nail-tail transverse connection in treatment of atlantoaxial dislocation and its impacts on bone metabolism,serum vascular endothelial growth factor and fibroblast growth factor-2 levels
Qiuyu LI ; Jingjing CHEN ; Xin WANG ; Jiaoyang ZHENG ; Runqing LU ; Yifan WANG
Journal of Clinical Medicine in Practice 2025;29(19):53-57
Objective To explore the effects of nail-tail transverse connection in the treatment of atlantoaxial dislocation(AAD)and its impacts on bone metabolism,serum vascular endothelial growth factor(VEGF),and fibroblast growth factor-2(FGF-2)levels.Methods A total of 150 pa-tients with AAD were selected as the research subjects and divided into two groups using the random number table method,with 75 cases in each group.The observation group was treated with nail-tail transverse connection combined with posterior atlantoaxial pedicle screw internal fixation(C1-C2 PSR),while the control group was treated with C1-C2 PSR alone.Serum bone metabolism indicators[osteocalcin(BGP),type Ⅰ collagen N-terminal peptide(NTX),bone alkaline phosphatase(BALP),tartrate-resistant acid phosphatase(TRAP),type Ⅰ collagen carboxy-terminal peptide(CTX)],VEGF and FGF-2 levels were compared between the two groups at different time points.The Japanese Orthopaedic Association(JOA)score was used to evaluate the patients' neurological function before surgery and 3 years after surgery.Bone graft fusion was evaluated at 6 months,1 year,2 years,and 3 years after surgery.Results At 1,3 and 6 months after surgery,the serum VEGF and FGF-2 levels in the observation group were higher than those in the control group,and the differences were statistically significant(P<0.05).After treatment,the BALP,BGP,NTX,TRAP and CTX levels in both groups were lower than those before treatment,and their levels in the observation group were lower than those in the control group,with statistically significant differences(P<0.05).Before surgery,there was no statistically significant difference in the JOA scores be-tween the two groups(P>0.05).At 3 years after surgery,the JOA scores in both groups were higher than those before surgery,and the JOA score and the score improvement rate in the observa-tion group were higher than those in the control group,with statistically significant differences(P<0.05).At 6 months,1 year,2 years and 3 years after surgery,the success rate of bone graft fusion in the observation group was higher than that in the control group,with statistically significant differ-ences(P<0.05).Conclusion Nail-tail transverse connection has significant effects in the treat-ment of AAD,which can effectively improve patients' bone metabolism and increase the serum VEGF and FGF-2 levels.
5.Improvement of isolation and culture methods for primary chondrocytes of neonatal rats
Dandan YANG ; Jiaoyang CHEN ; Xinheng WANG ; Zetong ZHAO ; Ying PAN ; Baigong XUE ; Changzhao GAO
Journal of Jilin University(Medicine Edition) 2024;50(5):1438-1449
Objective:To discuss the improved methods for the isolation and culture of primary chondrocytes from the neonatal rats,and to establish an efficient and economical in vitro chondrocyte culture system.Methods:The primary chondrocytes were isolated from the joints of neonatal rats and divided into overnight digestion(OD)group and rapid digestion(RD)group for separation.The chondrocytes in OD group were digested overnight by type Ⅱ collagenase,while the chondrocytes in RD group were separated by the combination of pre-digestion with physical and chemical digestion methods.The chondrocytes were cultured in modified media containing 0%(blank group 1),1%,2%,4%,and 10%fetal bovine serum(FBS),0(blank group 2),0.1,0.2,0.4,0.8,1.0,and 2.0 g·L-1 vitamin C(VC),and 0(blank group 3),0.5,1.0,2.0,4.0,8.0,10.0 μg·L-1 poly(lactic-co-glycolic acid)(PLGA)nanoparticles.The media containing different concentrations of FBS,VC,and PLGA were mixed with Dulbecco's modified Eagle's medium/nutrient mixture F-12(DMEM/F12),and were divided into related groups based on the concentrations of ingredients.Cell counter was used to count the chondrocytes in various groups and the survival rates and diameters of the chondrocytes in various groups were detected;Toluidine blue staining was used to detect the morphology of the chondrocytes in various groups;CCK-8 method was used to detect the proliferative activities of the chondrocytes in various groups;cell adhesion assay was used to detect the adhesion rates of the chondrocytes in various groups;Hoechst/propidium iodide(PI)staining was used to detect the apoptosis of the chondrocytes in various groups;MTT assay was used to detect the proliferation activities of the chondrocytes in various groups after treated with modified media.The cells were divided into DMEM/F12+10%FBS group,DMEM/F12+1%FBS group,and DMEM/F12+1%FBS+0.4 g·L-1 VC+1 μg·L-1 PLGA group.Real-time fluorescence quantitative PCR(RT-qPCR)method was used to detect the expression levels of sex-determining region Y-box 9(SOX9),collagen type Ⅱ alpha 1 chain(Col2A1),collagen type X alpha 1 chain(Col10A1),and matrix metallopeptidase 13(MMP13)mRNAs in the chondrocytes in various groups after treated with modified media;immunofluorescence staining was used to detect the expressions of type Ⅱ collagen(COL Ⅱ)and SOX9 in the chondrocytes in various groups after treated with modified media.Results:The survival rate of primary chondrocytes in OD group was lower than that in RD group,and the average cell diameter was larger than that in RD group.The primary chondrocytes in OD group were larger and spindle-shaped,and most cells exhibited pseudopodia;in RD group,the primary chondrocytes were smaller,mostly rhomboid in shape,with only a portion of the cells showing pseudopodia.The Toluidine blue staining results showed significant coloration in both groups,but the digestion time of the chondrocytes in RD group was shorter,and compared with OD group,the actual culture time of the chondrocytes was reduced by 9-13 h,and more immature morphology of the primary chondrocytes were observed.The proliferation activity of the primary chondrocytes in OD group was slow at 24 h of culture but increased at 48 h of culture,and the proliferation activity of the primary chondrocytes was significantly higher at 48 h of culture compared with 12 h of culture(P<0.01).Compared with 12 h of culture,the proliferation rates of the primary chondrocytes in RD group were increased at 24 and 48 h of culture(P<0.01).At 24 and 48 h of culture,compared with OD group,the proliferation rates of the primary chondrocytes in RD group were increased(P<0.05).The number of apoptotic chondrocytes in RD group was lower than that in OD group,and no necrotic chondrocytes were observed in either group.The proliferation activities of chondrocytes of the rats were increased with the rising of FBS concentration in the culture medium.Compared with blank group 1,the proliferation activities of chondrocytes of the rats after treated with culture mediums containing 1%,2%,4%,and 10%FBS were significantly increased(P<0.05).Compared with blank group 2,the proliferative activities of chondrocytes of the rats after treated with culture mediums containing 0.2-1.0 g·L-1 VC were significantly increased(P<0.05),and the highest proliferation activity was found when the concentration of VC was 0.4 g·L-1(P<0.01).Compared with blank group 3,the proliferation activities of chondrocytes of the rats after treated with culture mediums containing 1-4 μg·L-1 PLGA were significantly increased(P<0.05),and the highest proliferation activity was found after treated with culture medium containing 1 μg·L-1 PLGA(P<0.05).Compared with DMEM/F12+10%FBS group,the expression levels of SOX9 mRNA and Col2A1 mRNA in the chondrocytes in DMEM/F12+1%FBS group were significantly increased(P<0.05 or P<0.01).Compared with DMEM/F12+10%FBS group,the expression levels of SOX9 mRNA and Col2A1 mRNA in the chondrocytes in DMEM/F12+1%FBS+0.4 g·L-1 VC+1 μg·L-1 PLGA group were significantly increased(P<0.01).The immunofluorescence staining results showed that the green fluorescence signal of COL Ⅱ and the red fluorescence signal of SOX9 were observed in some chondrocytes in DMEM/F12+10%FBS group under fluorescence microscope,and the fluorescence intensity was weak.In DMEM/F12+1%FBS group,most chondrocytes exhibited COL Ⅱ green fluorescence signal and SOX9 red fluorescence signal,and the fluorescence intensity was significantly stronger than that in DMEM/F12+10%FBS group.In DMEM/F12+1%FBS+0.4 g·L-1 VC+1 μg·L-1 PLGA group,the COLⅡ green fluorescence signal and SOX9 red fluorescence signal were found in all the chondrocytes,and the fluorescence intensity was significantly higher than those in DMEM/F12+10%FBS and DMEM/F12+1%FBS groups.The expression levels of COLⅡ and SOX9 proteins in the chondrocytes in DMEM/F12+1%FBS group were significantly higher than those in DMEM/F12+10%FBS group,and the expression levels of COL Ⅱ and SOX9 proteins in the chondrocytes in DMEM/F12+1%FBS+0.4 g·L-1 VC+1 μg·L-1 PLGA group were significantly higher than those in DMEM/F12+10%FBS group.Conclusion:The improved methods for the isolation and culture of primary chondrocytes of the rats can overcome the shortcomings of traditional methods,shorten the isolation time of primary chondrocytes,and improve the quality of in vitro culture of primary chondrocytes.
6.Diagnostic method and value of echocardiography for screening right patent ductus arteriosus in infants
Xinjian HE ; Jiuru WEI ; Yun CUI ; Jiaoyang CHEN ; Shuai ZHANG ; Gaoyang LI ; Lei LIU ; Jie YAO ; Ning ZHAO ; Zhe REN
Chinese Journal of Ultrasonography 2023;32(8):679-684
Objective:To investigate the diagnostic method and value of echocardiography in screening right patent ductus arteriosus(PDA) of infants.Methods:This was a prospective study.Thirty-one infants with right PDA diagnosed by ultrasound and confirmed by prenatal ultrasonography, electronic computed tomography angiography, angiocardiography and/or surgery in Hebei Children′s Hospital from April 2014 to May 2022 were collected as research subjects, and the association of right ductus arteriosus with aortic arch anomalies and complex cardiac malformations were summarized. The diagnostic method and value of ultrasonic screening were summed up.Results:Of the 31 cases, 30 cases were correctly diagnosed by ultrasound and 1 case was misdiagnosed, who was a left aortic arch descending to the right, a crossover variation of the right and left pulmonary arteries, and a rightward displacement of the ductus arteriosus. Among these cases diagnosed correctly, 27 cases (including 24 cases with right aortic arch and 3 cases with left aortic arch) presented that ductus arteriosus was open and its ostium of pulmonary artery end was located in the proximal right pulmonary artery in views of parasternal short-axis view of great vessels at cardiac base with the combination of two dimensions and color Doppler flow imaging. Other 3 cases of right aortic arch were all single ventricle with transposition of the great artery. Due to the parallel relationship of the two great arteries, the standard parasternal short-axis view of great vessels could not be obtained, and the right ductus arteriosus was found in the high parasternal views.In all of the 27 cases with right aortic arch and right ductus arteriosus, high parasternal views showed that one end of the ductus arteriosus was connected to the right aortic arch isthmus and the other end was connected to the right pulmonary artery. In all of the 3 cases with left aortic arch and right ductus arteriosus, the high parasternal views showed that one end of the ductus arteriosus was connected to the right subclavian artery and the other end was connected to the right pulmonary artery. Among the 27 cases with right aortic arch, 16 cases were accompanied with mirror image branches, 9 cases of which had complex cardiac malformations; 10 cases were associated with aberrant left subclavian artery, 1 case of which had complex cardiac malformations; 1 case was with isolated left subclavian artery, and without complex cardiac malformations. All 3 cases of left aortic arch were accompanied with isolated right subclavian artery and none of them were associated with complex cardiac malformations. Clinical outcomes of 30 cases with right PDA: 14 cases underwent ductus arteriosus ligation due to thick ductus or other heart malformations. In other 16 cases, 4 cases were closed spontaneously, 9 cases had persistent small ductus arteriosus, and 3 cases were lost to follow-up.Conclusions:Right ductus arteriosus is mostly related to the right aortic arch, and those with mirror image branches are prone to complex cardiac malformations; cases of left aortic arch with right ductus arteriosus are tend to accompany isolated right subclavian artery. Ultrasound has an important application in the screening and diagnosis of right PDA.
7.Palmitoylation of GNAQ/11 is critical for tumor cell proliferation and survival in GNAQ/11-mutant uveal melanoma.
Yan ZHANG ; Baoyuan ZHANG ; Yongyun LI ; Yuting DAI ; Jiaoyang LI ; Donghe LI ; Zhizhou XIA ; Jianming ZHANG ; Ping LIU ; Ming CHEN ; Bo JIAO ; Ruibao REN
Frontiers of Medicine 2022;16(5):784-798
More than 85% of patients with uveal melanoma (UM) carry a GNAQ or GNA11 mutation at a hotspot codon (Q209) that encodes G protein α subunit q/11 polypeptides (Gαq/11). GNAQ/11 relies on palmitoylation for membrane association and signal transduction. Despite the palmitoylation of GNAQ/11 was discovered long before, its implication in UM remains unclear. Here, results of palmitoylation-targeted mutagenesis and chemical interference approaches revealed that the loss of GNAQ/11 palmitoylation substantially affected tumor cell proliferation and survival in UM cells. Palmitoylation inhibition through the mutation of palmitoylation sites suppressed GNAQ/11Q209L-induced malignant transformation in NIH3T3 cells. Importantly, the palmitoylation-deficient oncogenic GNAQ/11 failed to rescue the cell death initiated by the knock down of endogenous GNAQ/11 oncogenes in UM cells, which are much more dependent on Gαq/11 signaling for cell survival and proliferation than other melanoma cells without GNAQ/11 mutations. Furthermore, the palmitoylation inhibitor, 2-bromopalmitate, also specifically disrupted Gαq/11 downstream signaling by interfering with the MAPK pathway and BCL2 survival pathway in GNAQ/11-mutant UM cells and showed a notable synergistic effect when applied in combination with the BCL2 inhibitor, ABT-199, in vitro. The findings validate that GNAQ/11 palmitoylation plays a critical role in UM and may serve as a promising therapeutic target for GNAQ/11-driven UM.
Humans
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Mice
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Animals
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Lipoylation
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NIH 3T3 Cells
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Uveal Neoplasms/genetics*
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Melanoma/genetics*
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Cell Proliferation
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Proto-Oncogene Proteins c-bcl-2
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GTP-Binding Protein alpha Subunits, Gq-G11/genetics*
8.Twelve-section ultrasonic screening diagnosis method for neonatal complex congenital heart disease in primary hospitals at county level
Xinjian HE ; Jiuru WEI ; Jiaoyang CHEN ; Lei LIU ; Jie YAO ; Shuguang TAO ; Shuai ZHANG ; Ning ZHAO ; Zhe REN ; Yun CUI
Chinese Journal of Perinatal Medicine 2022;25(8):582-591
Objective:To investigate the feasibility of "twelve-section ultrasonic screening diagnosis method" in screening for neonatal complex congenital heart disease (CHD) in primary hospitals.Methods:This is a prospective study. A total of 71 580 newborns were screened for CHD using the "twelve-section ultrasonic screening diagnosis method" from four pilot units in Hebei province, which were Bo'ai Hospital of Huanghua Development Zone, Traditional Chinese Medicine Hospital of Fengning County, Maternity & Child Healthcare Hospital of Tang Country, and Maternity & Child Healthcare Hospital of Rongcheng Country, from November 2015 to December 2019. Another 262 children with CHD were enrolled, including 39 with complex CHD. These cases received ultrasonography at four pilot units above and then were transferred to CHD Screening Diagnosis and Treatment Center of Hebei Children's Hospital (our center) prior to the implementation of "twelve-section ultrasonic screening diagnosis method" from June 2012 to June 2014, who were all confirmed by surgery. Set the diagnosis results of our center as the gold standard, the sensitivity, specificity, and diagnostic consistency rate in screening for complex CHD cases were calculated. Receiver operating characteristic (ROC) analysis and Chi-square test were used to compare and analyze the sensitivity for screening neonatal complex CHD before and after implementing the method. The screening results of complex CHD after implementing the method between the pilot units and our center as well as between the four pilot units were compared and analyzed using Chi-square test. Results:A total of 553 (0.77%) CHD cases were detected by the "twelve-section ultrasound screening diagnosis method", including 66 cases of complex CHD and 487 cases simple CHD. Among the cases screened using the method, there were three false negative cases (one case with total anomalous pulmonary venous drainage, one with abnormal coronary artery originating from pulmonary artery, and one with atresia of distal to the left subclavian artery, aortic arch and left aortic arch of double-arch), one false positive case (false echo loss of aortopulmonary septal that was misdiagnosed as aortopulmonary septal defect), five cases of misdiagnosis (one common pulmonary venous atresia case that was misdiagnosed as total anomalous pulmonary venous drainage, one persistent stenosis of the fifth aortic arch that was misdiagnosed as coarctation of aorta, one pulmonary artery sling that was misdiagnosed as absence of left pulmonary artery, one severe coarctation of aorta that was misdiagnosed as interruption of aortic arch, and one aortic isthmus atresia that was misdiagnosed as coarctation of aorta), and all were complex CHD cases. A total of 68 cases (12.3%) of complex CHD were confirmed by our center. The overall sensitivity, specificity, and diagnostic consistency rate of screening were 95.6% (65/68), 99.8% (484/485), and 86.8% (59/68), respectively and the area under ROC curve was 0.98. Before the implementation, the overall sensitivity, specificity, and diagnostic coincidence rates of ultrasonic screening for complex CHD were 69.2%(27/39), 95.5%(213/223), and 61.5% (24/39), respectively, and the area under ROC curve was 0.82. The sensitivity of complex CHD screening was significantly increased after implementing the method ( χ2=14.28, P<0.05). There was no significant statistical significance in the sensitivity for screening complex CHD after the implementation between the pilots and our center or between the four pilots (all P>0.05). Conclusions:"Twelve-section ultrasonic screening diagnosis method" is suitable for the screening of neonatal complex CHD in hospitals at the county level. However patients with some special types of complex CHD are recommended to be transferred for a more accurate diagnosis.
9.Association of adequate dietary phosphate restriction education and phosphorus management in maintenance hemodialysis patients
Jiaoyang PANG ; Weichen ZHANG ; Bihong HUANG ; Yanpei CAO ; Jiaying ZHANG ; Chen YU ; Zhibin YE ; Jing CHEN ; Mengjing WANG
Chinese Journal of Nephrology 2022;38(4):296-303
Objective:To explore the effects of dietary phosphate restriction education on serum phosphorus level, dietary phosphate intake and the knowledge of hyperphosphatemia in maintenance hemodialysis (MHD) patients.Methods:This study was a retrospective cohort study. A total of 116 hemodialysis patients in Huashan Hospital, Huadong Hospital and Tongji Hospital from October 2019 to December 2020 were enrolled in this study. They were divided into short-term group (84 cases) and long-term group (32 cases). The short-term group did not receive education or received education≤60 minutes. Meanwhile, the long-term group received education>60 minutes. Serum phosphorus level, dietary phosphate intake and knowledge of hyperphosphatemia were compared between the two groups after 4 weeks.Results:At baseline, age [64(56, 69) years old vs 65(60, 73) years old, Z=-1.493, P=0.136], the proportion of males [58.3%(49/84) vs 56.3%(18/32), χ2=0.041, P=0.839], dialysis age [55(26, 130) months vs 53(20, 132) months, Z=-0.062, P=0.951], body mass index, diabetes history, single-pool Kt/V, proportion of calctriol used, blood calcium, blood phosphorus, intact parathyroid hormone and dietary protein, dietary phosphorus and dietary phosphorus protein ratio had no statistical significance between short-term group and long-term group (all P>0.05). Adequate dietary phosphate restriction education reduced dietary phosphate intake [777.98(653.81, 943.16) mg/d vs 896.56(801.51, 1 015.51) mg/d, Z=-2.903, P=0.004], phosphate/protein ratio [13.16(11.52, 14.21) mg/g vs 15.27(13.31, 17.48) mg/g, Z=-3.929, P<0.001] and serum phosphorus level [(1.42±0.37) mmol/L vs (1.85±0.44) mmol/L, t=4.984, P<0.001]. Meanwhile, such education significantly improved achievement rate of serum phosphorus (62.5% vs 41.7%, χ2=4.034, P=0.045). In addition, patients in long-term group answered more questions correctly (completely correct plus partially correct) about the causes (93.8% vs 72.6%, χ2=6.120, P=0.013), poor prognosis (78.1% vs 52.4%, χ2=6.372, P=0.012) of hyperphosphatemia as well as the types of food with high phosphate (65.6% vs 52.4%, χ2=1.650, P=0.199). Conclusion:Adequate dietary phosphate restriction education reduces serum phosphorus level and dietary phosphate intake, and improves the knowledge of hyperphosphatemia in MHD patients.
10.Genotype and phynotype of DNM1 gene variants related developmental epileptic encephalopathy
Xueyang NIU ; Jiaoyang CHEN ; Miaomiao CHENG ; Ying YANG ; Yi CHEN ; Wenwei LIU ; Quanzhen TAN ; Xiao-Ling YANG ; Yuehua ZHANG
Chinese Journal of Applied Clinical Pediatrics 2022;37(9):692-696
Objective:To summarize the clinical features of developmental epileptic encephalopathy children with DNM1 gene variants. Methods:The genotypes and clinical features of 15 children with DNM1 variants related epilepsy in the Department of Pediatrics, Peking University First Hospital from June 2017 to October 2021 were retrospectively analyzed. Results:A total of 8 male and 7 female epilepsy patients with DNM1 gene variants with the age of seizure onset ranging from 15 days to 22 months were recruited, median age was 8 months.All cases belonged to de novo heterozygous variants of the DNM1 gene, including 13 cases of missense variants, 1 case of frame shift variant and 1 case of nonsense variant, 8 cases of ectopic sites have not been reported.Multiple seizure types were observed, including epileptic spasms in 15 patients, focal seizure in 9 patients, atypical absence seizure in 2 patients and tonic seizure in 2 patients.There were various types of seizures in 7 children.Nine cases occurred as infantile spasm for the first time.All 15 patients showed varied degrees of development delay, among them, 11 cases had developmental retardation before epilepsy.Three patients had slow rhythm of electroencephalogram background activity, the electroencephalography showed hypsarrhythmia in 13 patients; clinical seizures were detected in 8 cases, among them, epileptic spasms were captured in 7 patients, tonic seizure was captured in 1 patient.Widened frontotemporal subarachnoid space, cerebral atrophy, and corpus callosum dysplasia were examined in 6, 2 and 3 patients by cranial magnetic resonance imaging, respectively.All 15 cases were diagnosed as developmental epileptic encephalopathy, of which 13 cases were consistent with infantile spasms.The age of the last follow-up ranged from 1 year old to 7 years old.After multi-antiepileptic drug treatment, 2 patients were remission, 1 patient(small size of identical twins) died of severe pneumonia at the age of 2 years, and 12 patients still had intermittent seizures, of which 1 patient was transformed from infantile spasms to Lennox-Gastaut syndrome. Conclusions:The onset age of developmental epileptic encephalopathy caused by the DNM1 gene variant usually begins in the infantile period, the peak onset age was 8 months.The main types of seizures include epileptic spasms and focal seizures, developmental retardation can occur before seizures.The clinical manifestations are mostly infantile spasms syndrome, and some children can be transformed into Lennox-Gastaut syndrome.

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