Objective:To summarize the clinical manifestations, gene variations, diagnosis and treatment of 3 cases with SLC35A2 variations characterized by congenital glycosylation disorder Ⅱm (CDG Ⅱm). Methods:A total of 3 patients admitted to the Department of Pediatrics of Xiangya Hospital of Central South University in China from 2018 to 2020 were examined in detail. The studies till January 2022 were searched with key words of "congenital disorders of glycosylation Ⅱm", " SLC35A2" and "CDG Ⅱm" in both English and Chinese in the databases of China National Knowledge Infrast Ructure (CNKI), Wanfang, Online Mendelian Inheritance in Man and PubMed, and the clinical manifestations, genetic variation, treatments and prognosis of patients with SLC35A2 mutation were summarized. Results:The patients all presented with intractable infantile spasm and global developmental delay, onset in infancy. A variety of antiepileptic treatments had temporary and partial efficacy. Otherwise, proband 2 and 3 presented with abnormal glutamic-pyruvic transaminase and increased platelets. Funduscopy showed dysplasia of the retinal pigment epithelium in both eyes, and they both received D-galactose treatment. A total of 22 relevant case reports, including 99 patients, were collected. The 99 patients all were heterozygous mutations, and a total of 75 different variation sites were reported. The clinical manifestations were characterized by global developmental delay or mental retardation ( n=89), epileptic seizure ( n=75), hypotonia ( n=57), facial deformity ( n=57), skeletal abnormality ( n=50), visual impairment ( n=42), elevated glutamic-pyruvic transaminase ( n=31), gastrointestinal symptoms ( n=28), skin deformity ( n=26), microcephaly ( n=23) and congenital heart disease ( n=12). Craniocerebral magnetic resonance imaging may be normal in the early stage. With age, magnetic resonance imaging may show abnormal white matter signals, brain atrophy, dysplasia of corpus callosum, delayed myelination, enlargement of lateral ventricle, brain stem atrophy and so on. Studies have shown that galactose treatment may be effective. Conclusions:SLC35A2 variants lead to CDG Ⅱm, whose clinical manifestations mainly include epileptic encephalopathy and global developmental delay. Multiple antiepileptic therapies can temporarily or partially control seizures, while oral galactose may improve the clinical symptoms, showing its prospect as a dietary therapy.

Objective:To investigate the characteristics of urinary stones composition in children and the differences in their distribution among different sexes and age groups.Methods:The clinical data of 592 children with urinary stones who underwent stone composition analysis using infrared spectroscopy at Hunan Children's Hospital from October 2015 to October 2019 were retrospectively analyzed. There were 430 males and 162 females.The median age was 4.0 (0.3 to 18.0) years old. The stone composition and the differences in its distribution in different sex and age groups were analyzed.Results:A total of 643 urinary stones were analyzed in 592 cases, with 419 (65.2%) single-component stones and 224 (34.8%) mixed-component stones. The main stone components were calcium oxalate in 361 cases (56.1%), ammonium hydrogen urate in 130 cases (20.0%), cystine in 56 cases (8.7%), calcium phosphate in 33 cases (5.1%), uric acids in 33 cases (5.1%), magnesium ammonium phosphate in 25 cases (3.9%), and xanthine in 5 cases (0.8%). The percentage of calcium oxalate stones was higher in women than in men [65.6% (118/180) vs. 52.5% (243/463), P<0.05]. The proportion of upper urinary tract stones was higher in girl than in boy[93.4%(168/180) vs. 73.2%(339/463), P<0.05]. The differences in the composition ratios of calcium oxalate stones, ammonium hydrogen urate, cystine, and magnesium ammonium phosphate stones in different age groups were statistically significant ( P<0.05), with the highest proportion of calcium oxalate stones (35.6%) at 6 to 10 years of age, ammonium hydrogen urate and cystine stones at 1 to 2 years of age (45.4% and 42.9%), and magnesium ammonium phosphate stones at 3 to 5, 6 to 10, and 11 to 18 years of age, the percentage of urinary stones in children was 24%. Conclusions:The main component of urinary stones in children is calcium oxalate, followed by ammonium hydrogen urate and cystine. Age and gender correlate with the distribution of stone components. Calcium oxalate stones are common in females and in children aged 6 to 10 years, ammonium hydrogen urate and cystine stones are common in children aged 1 to 2 years, and magnesium ammonium phosphate stones are more common in children aged 3 to 5 years, 6 to 10 years, and 11 to 18 years.

Objective:To investigate the changes of plasma high density lipoprotein cholesterol (HDL-C) and metabolic indicators in obese patients after laparoscopic sleeve gastrectomy (LSG).Methods:The retrospective cohort study was conducted. The clinical data of 69 obese patients who were admitted to the Tenth People′s Hospital of Tongji University from August 2013 to March 2017 were collected. There were 32 males and 37 females, aged (33±12)years, with a range from 18 to 65 years. Of 69 patients, 44 patients with preoperative HDL-C concentration <1.04 mmoL/L were allocated as low HDL-C group, and 25 patients with preoperative HDL-C concentration ≥1.04 mmoL/L were allocated as normal HDL-C group. Sixty-nine patients underwent LSG. Observation indicators: (1) analysis between preoperative HDL-C and clinical indicators; (2) follow-up; (3) stratified analysis of plasma HDL-C. Follow-up was conducted using outpatient examination and hospitalization review to detect changes of plasma HDL-C, insulin resistance index, uric acid, free fatty acids and body mass every 3 months after operation up to September 2017. Measurement data with normal distribution were represented as Mean± SD, and comparison between groups was analyzed using the t test. Measurement data with skewed distribution were represented as M ( P25, P75), and comparison between groups was analyzed using the Mann-Whitney U test. Count data were expressed as absolute numbers or percentages, and comparison between groups was analyzed using the chi-square test. Pearson correlation coefficient was used to analyze measurement data with normal distribution, and Spearman correlation was used to analyze measurement data with skewed distribution. Repeated measurement data were analyzed by ANOVA. Results:(1) Analysis between preoperative HDL-C and clinical indicators: results of correlation analysis showed that the preoperative plasma HDL-C concentration was negative correlated with the body mass, height, abdominal circumference, insulin resistance index and triglyceride in 69 patients ( r=-0.246, -0.307, -0.262, -0.253, -0.301, P<0.05), and the preoperative plasma HDL-C concentration was not correlated with the age, body mass index (BMI), fasting blood glucose, glycosylated hemoglobin, alanine aminotransferase, aspartate aminotransferase, gamma glutamyltransferase, uric acid, creatinine, free fatty acid, fasting serum insulin, total cholesterol and low density lipoprotein cholesterol ( P>0.05). The preoperative plasma HDL-C concentration was still negative correlated with the body mass in 69 patients after adjusting for age, BMI, fasting blood glucose, glycosylated hemoglobin, fasting serum insulin and insulin resistance index ( r=-0.277, P<0.05). (2) Follow-up: 69 patients were followed up postoperatively for 6 months (6 months, 12 months). The plasma HDL-C concentration, insulin resistance index, uric acid, free fatty acids, body mass of low HDL-C group at postoperative 3 and 6 months were (0.96±0.18)mmol/L, 2.20(0.51, 11.66), (411±93)μmol/L, 0.57 mmol/L (0.20 mmol/L, 1.00 mmol/L), (92±18)kg and (1.11±0.18)mmol/L, 2.19(0.71, 8.75), (389±100)μmol/L, 0.40 mmol/L(0.13 mmol/L, 1.10 mmol/L), (86±17)kg, respectively. The above indicators of normal HDL-C group at postoperative 3 and 6 months were (1.17±0.24)mmol/L, 2.22(0.24, 7.04), (379±105)μmol/L, 0.60 mmol/L(0.27 mmol/L, 1.10 mmol/L), (84±16)kg and (1.34±0.20)mmol/L, 1.60(0.36, 5.56), (359±92)μmol/L, 0.42 mmol/L (0.16 mmol/L, 2.90 mmol/L), (80±18)kg, respectively. There was significant difference in the changes of postoperative plasma HDL-C concentration between the two groups ( F=41.443, P<0.05), and there was interaction between groups and time points ( F=6.252, P<0.05). There was significant difference between different time points ( F=29.900, P<0.05). There was significant difference in the changes of postoperative insulin resistance index between the two groups ( F=4.313, P<0.05), and there was no interaction between groups and time points ( F=2.298, P>0.05). There was significant difference between different time points ( F=29.800, P<0.05). There was no significant difference in the changes of postoperative uric acid between the two groups ( F=1.669, P>0.05), and there was no interaction between groups and time points ( F=0.111, P>0.05). There was significant difference between different time points ( F=12.796, P<0.05). There was significant difference in the changes of postoperative free fatty acids between the two groups ( F=5.465, P<0.05), and there was no interaction between groups and time points ( F=0.504, P>0.05). There was no significant difference between different time points ( F=1.405, P>0.05). There was significant difference in the changes of postoperative body mass between the two groups ( F=5.614, P<0.05), and there was no interaction between groupsand time points ( F=2.174, P>0.05). There was significant difference between different time points ( F=497.496, P<0.05). (3) Stratified analysis of plasma HDL-C. ① Changes of postoperative plasma HDL-C in obese patients of different genders: of 69 patients, the plasma HDL-C concentration of the 32 male patients before operation and at postoperative 3 and 6 months were (0.91±0.19)mmol/L, (1.02±0.24)mmol/L, (1.18±0.23)mmol/L, respectively, and the percentage increase of plasma HDL-C concentration at postoperative 3 and 6 months were 12.00%(4.00%, 12.00%)and 20.00%(12.00%, 39.25%), respectively. The above indicators of the 37 female patients were (1.05±0.21)mmol/L, (1.06±0.22)mmol/L, (1.22±0.22)mmol/L and 0(-9.50%, 8.25%), 12.00%(2.00%, 23.00%), respectively. There was significant difference in the changes of percentage increase of plasma HDL-C concentration between the male and female patients ( F= 6.716, P<0.05), and there was interaction between groups and time points ( F=3.861, P<0.05). There was significant difference between different time points ( F=37.374, P<0.05). ② Changes of postoperative plasma HDL-C in obese patients of different genders in low HDL-C group and normal HDL-C group: of 44 patients in low HDL-C group, the plasma HDL-C concentration of the 24 male patients before operation and at postoperative 3 and 6 months were (0.82±0.12)mmol/L, (0.99±0.21)mmol/L, (1.12±0.22)mmol/L, respectively, and the percentage increase of plasma HDL-C concentration at postoperative 3 and 6 months were 16.00%(-1.75%, 28.75%) and 27.50%(15.75%, 43.50%), respectively. The above indicators of the 20 female patients in low HDL-C group were (0.89±0.08)mmol/L, (0.93±0.14)mmol/L, (1.10±0.14)mmol/L and 1.50%(-8.25%, 16.50%), 18.00%(9.00%, 23.00%), respectively. There was significant difference in the changes of percentage increase of plasma HDL-C concentration between the male and female patients ( F=4.503, P<0.05), and there was interaction between groups and time points ( F=3.594, P<0.05). There was significant difference between different time points ( F=37.096, P<0.05). Of 25 patients in normal HDL-C group, the plasma HDL-C concentration of the 8 male patients before operation and at postoperative 3 and 6 months were (1.15±0.12)mmol/L, (1.12±0.32)mmol/L, (1.32±0.21)mmol/L, respectively, and the percentage increase of plasma HDL-C concentration at postoperative 3 and 6 months were -1.00%(-14.00%, 12.00%), 13.50%(6.75%, 32.50%), respectively. The above indicators of the 17 female patients in normal HDL-C group were (1.23±0.16)mmol/L, (1.20±0.20)mmol/L, (1.36±0.20)mmol/L and 0(-13.75%, 4.25%), 5.50%(0, 28.50%), respectively. There was no significant difference in the changes of percentage increase of plasma HDL-C concentration between the male and female patients ( F=0.209, P>0.05), and there was no interaction between groups and time points ( F=0.176, P>0.05). There was significant difference between different time points ( F=6.481, P<0.05). Conclusions:For patients with low or normal plasma HDL-C concentration preoperative, there are significant differences in the changes of HDL-C, insulin resistance index, free fatty acids and body mass after LSG. There is significant difference in the changes of postoperative percentage increase of plasma HDL-C concentration between male and female patients who with low plasma HDL-C concentration preoperative.

Objective:To study the classification of persistent fifth aortic arch (PFAA) and the value of echocardiography in the diagnosis of PFAA.Methods:A total of 16 cases (male 6, female 10, at ages from 7 days to 4 years and 2 months old, the median age was 3 months) diagnosed with PFAA in Beijing Children′s Hospital Affiliated to Capital Medical University from January 2013 to June 2019 were studied retrospectively. The diagnosis standard, differential methods and misdiagnosed analysis of different subtypes of PFAA by echocardiography were summarized and analyzed.Results:The 16 cases included 1 case of type A1 double lumen aortic arch, 8 cases of type A2 single-lumen aortic arch, 3 cases of type B1 with pulmonary atresia and 4 cases of type B3 pulmonary artery branch arising from the distal end of ascending aorta. Only one patient of double lumen aortic arch missed diagnosis by echocardiography, and the rest were accurately diagnosed by echocardiography. CTA was performed in 13 cases, including 9 cases of type A, 1 case of type B1 and 3 cases of type B3, which confirmed the echocardiography diagnosis. Seven cases of Type A2 were operated.Conclusions:PFAA is a rare and complicated aortic arch malformation, which is divided into four major classification and multiple subtypes. Echocardiography can diagnose the PFAA and its classification, it is of great clinical significance for the early diagnosis, treatment and prognosis of children.

Objective To investigate the diagnosis and prognosis of patients with coronary artery aneurysm in Kawasaki disease.Methods The data of ultrasonic diagnosis and follow-up of 338 children with Kawasaki disease complicated with coronary artery aneurysms were analyzed.Results The incidence of coronary artery aneurysm in the acute stage of Kawasaki disease was 21.2％ (338/1 594).Of all the 338 cases,small aneurysms was 66.6％ (225 cases),medium aneurysms was 25.1％ (85 cases),and giant aneurysms was 8.3％ (28 cases).There were 719 branches involved in 338 cases,32.8％ of them in left main coronary artery and 31.1％ in right coronary artery;25.3％ in left anterior descending branch,and 10.8％ in left circumflex branch.A total of 382 branches were followed up,including 218 branches of small coronary aneurysm group and 82.1％ of them were completely recovered to the normal diameter.The medium aneurysm group was 124 brunches,the proportion of no significant change,retraction,and normal were 23.4％,68.5％ and 8.1％,respectively.There were 40 brunches in the giant anuerysm group,in which the proportion of no significant change,retraction,and normal were 70.0％,27.5％ and 2.5％,respectively.A total of 30 thrombosiswere detected by echocardiography in the acute stage,20 thrombosis were regularly followed up,12 thrombosis gradually subsided,and the other remained persist.Five thrombosis were detected in the sequelae stage,and all located in the giant coronary aneurysm.Seven children were clinically diagnosed with ischemic heart disease,of them,acute myocardial infarction in 1 case,1 died of heart failure.Conclusions Kawasaki disease coronary artery disease are common in small coronary aneurysms,of which the left main artery and right coronary artery lesions are the most common,and the prognosis is better;medium and giant aneurysm need more time to recovery,and are easy to complicated with thrombosis.

Objective To investigate the value of echocardiography application in the diagnosis of large amount of pericardial effusion (PE) in children by retrospective etiology and prognostic analysis.Methods A total of 68 children with large amount of PE admitted in Beijing Children's Hospital,Capital Medical University from March 2010 to March 2016 were reviewed retrospectively,and the echocardiographic presentations,etiology diagnosis,treatment,and prognosis were analyzed.Results Analysis indicated that the etiology diagnosis ratio was 97.1％ (66/68 cases),the effective ratio of the medical treatment was 71.8％ (46/64 cases),and the mortality rate was 7.8％ (5/64 cases).The morbidity was ranked from high to low as follow:large amount of PE included infectious pericarditis 27 cases,tumor associated PE 14 cases,postpericardiotomy syndrome and cardiotrauma 14 cases,systemic diseases 6 cases,vasa lymphatic related diseases 5 cases and idiopathic PE 2 cases.PE resulted from tumor associated PE and vasa lymphatic diseases had lower cure rate than the overall cure rate,and there were statistical significance (28.6％ vs.71.8％,x2 =9.092,P =0.003;20.0％ vs.71.8％,x2 =5.059,P =0.018).Thirty-five children received pericardiocentesis or fenestration drainage.Chylopericardium was restricted to vasa lymphatic diseases.All tumor associated PE had the hemorrhagic PE.The strong echo point in the pericardial cavity might indicate implication for hemorrhagic PE (x2 =5.166,P =0.023).The abnormal mass detected by echocardiography might indicate the tumor related or infectious causes.Conclusions The etiology of large amount of PE could be determined in most of children.As the preferred diagnosis method,echocardiography could help etiological diagnosis combined with clinical manifestation.

Objective To summarize the echocardiographic findings and clinical characteristics of Kawasaki disease(KD) complicated with coronary artery thrombosis (CAT).Methods Thirty-five patients with KD combined with CAT were enrolled,who were admitted to Beijing Children's Hospital,Capital Medical University between July 2005 and August 2016.The clinical characteristics and echocardiographic findings during follow-ups were retrospectively studied.According to whether the childrenhad been complicated with myocardial ischemia,the patients were divided into 2 groups:ischemic group and non-ischemic group.The duration of fever,the time when the intravenous immunoglobulin(IVIG) was first injected,the time when coronary artery aneurysms (CAA) was formed,the maximum diameter of CAA and inflammatory index inthe acute phase were compared between 2 groups.Results All of the 35 children diagnosed as KD combined with CAT suffered firom CAA,and the coronary thrombosis was detected in all the cases with aneurysms.Thirty-five patients had 99 branches of CAA,of which the maximum diameter of CAA was (9.6 ± 3.1) mm(4.0-19.0 mm).Fifty-four plots of CAT were detected in the aneurysms.The diameter of CAA that thrombosis located was larger than that of which the thrombosis was not located[(10.9 ± 2.8) mm vs.(7.9 ± 2.6) mm],and the difference was significant(P ＜0.01).During 4 months to 10 years and 8 months [(39.2 ±29.5) months] follow-ups,CAA regressed in 32 branches [32.3％ (32/99 branches)],of which 4 branches [4.0％ (4/99 branches)] completely regressed to the normal diameter.The maximum diameter of CAA regressed was smaller than the maximum diameter of CAA consistence [(7.3 ± 1.9) mm vs.(10.6 ± 3.0) mm],and the difference was significant (P ＜ 0.01).Out of 35 patients,15 cases [42.9％ (15/35 cases) had myocardial ischemia,while the other 20 cases[57.2％ (20/35 cases)] didn't have.Among 15 cases with myocardial ischemia,6 cases[17.1％ (6/35 cases)] had myocardial infarction,4 cases [11.4％ (4/35 cases)] had heart failure,and 1 case[2.9％ (1/35 cases)] died of acute heart failure complicated with severe ventricular arrhythmia.Compared with non-ischemic group,the children in the ischemic group had longer duration of fever[(19.1 ± 7.8) d vs.(12.1 ± 3.3) d],higher white blood cell account in the acute phase[(24.8 ± 13.5) × 1012/L vs.(19.7 ±4.0) × 1012/L],later treatment of IVIG [(13.9 ± 5.5) d vs.(9.8 ±3.8) d],and earlier CAA formation [(16.0 ±4.9) d vs.(20.9 ± 14.5) d],and the differences were statistically significant (all P ＜ 0.05).Conclusions CAT of children with KD commonly originates from CAA.Patients who have more serious inflammatory reaction in the acute phase,earlier formation,heavy severity and longer consistence of CAA are prone to have myocardial ischemia.Echocardiographic study plays an important role in monitoring CAA,detecting the CAT and finding the early left ventricle dysfunction,which is of clinical significance.

Objective To investigate the therapeutic effect,safety and its prognostic factors of capecitabine as maintenance treatment agent for prolonging the PFS of patients with recurrent and metastatic breast cancer after they received combination chemotherapy.Methods From January 2011 to June 2013,38 cases with recurrent and metastatic breast cancer were collected in the department of medical oncology of the First Hospital of Lanzhou University.All the 38 patients received NX scheme (vinorelbine combined capecitabine chemotherapy),and some patients among of them had stabile disease after chemotherapy and were administered X scheme (capecitabine,twice a day,2 000 mg/m2 daily,withdrawal for 7 days after a consecutive intake of 14 days,21 days as a cycle,at least 2 cycles) until disease progressed or toxicity could not be tolerated.Adverse reactions and PFS were observed and recorded.Single factor chi square test and multivariate COX proportion hazard model were used to evaluate the relationships between clinic features and RR,PFS.Results The overall response rate (CR + PR) was 55.26％ (21/38),clinical benefit patients rate (CR + PR + SD) was 84.2％ (32/38),with 4 patients of CR (4/32),17 patients of PR,11 patients of SD,6 patients of PD.Thirty-two no progressived patients were administered capecitabine until PD.The median PFS was 10.0 months.Stratification analysis showed that patients whose Karnofsky (KPS) ≥80 had an average PFS of 14.1 months,while an average PFS of 6.8 months for patients whose KPS ＜ 80,with a statistical significance (x2 =6.251,P =0.000).Cox proportion hazard model also showed that age (RR =3.561,95％ CI:1.372-5.216,.x2 =4.025,P =0.031),menopausal status (RR =1.895,95 ％ CI:1.124-4.452,x2 =5.725,P =0.048),KPS score (RR =4.553,95％ CI:1.131-7.703,x2 =11.205,P =0.005),the number of metastasis (RR =5.781,95％ CI:2.321 ～11.243,x2 =3.925,P =0.011) were important prognostic factors for the patients with breast cancer.Major treatment-related adverse reaction was grade Ⅰ-Ⅱ hand-foot syndrome.One patient discontinued treatment because of grade Ⅲ hand-foot syndrome.Conclusion Capecitabine as maintenance treatment can significantly prolong the PFS of patients with recurrent and metastatic breast cancers at remission or stable stage after combination chemotherapy with a better tolerance.Age of patients,menopausal status,KPS score,the number of metastasis are the prognostic factors for the efficacy of NX-X regimen.

Objective To explore the methodology and effects of quality control circle ( QCC ) on improving the compliance of tooth brushing in adolescent patients with orthodontic treatment of fixed appliance. Methods A QCC activity conducted from February to August in 2014, focused on improving the compliance of tooth brushing in adolescent patients with orthodontic treatment of fixed appliance. The study investigated 90 participants and compared their compliance of tooth brushing, plaque index ( PLI) and gingival index ( GI) before and after QCC. Results After the activity, the score of tooth brushing compliance was (10. 68 ± 2. 78), PLI (1. 29 ± 0. 41) and GI (0. 86 ± 0. 37). All the assessment indexes and the comprehensive quality were significantly improved after QCC (P<0. 05). Conclusions QCC is efficient to promote the compliance of tooth brushing and oral hygiene, and to improve the comprehensive ability of adolescent patients with orthodontic treatment of fixed appliance.

Objective: To evaluate the post-operative complication of pulmonary vein stenosis in patients with total anomalous pulmonary venous connection (TAPVC) by echocardiography.
Methods: A total of 66 TAPVC pediatric patients with surgical repair in our hospital were retrospectively studied. The peri-operative and mid-term post-operative echocardiography was conducted to evaluate the complication of pulmonary vein stenosis.
Results: The peri-operative and mid-term post-operative echocardiography presented the increased left ventricular diastolic end diameter (LVEDd) and decreased right ventricular diameter in all 66 patients, P<0.05. There were 6 patients with pulmonary vein stenosis showed high velocity Doppler signals at atanastomosis. The peri-operative echocardiography in those 6 patients showed increased LVEDd, decreased right ventricular diameter and pulmonary artery pressure, all P<0.05. The mid-term post-operative echocardiography in those 6 patients indicated increased LVEDd, P<0.05, while the right ventricular diameter and pulmonary artery pressure were similar before and after the operation, P>0.05.
Conclusion: Echocardiography may monitor the operative effect of TAPVC, the occurrence of post-operative pulmonary vein stenosis could be found by examining right ventricular diameter and pulmonary artery pressure in pediatric patients.