OBJECTIVE: To analyze the clinical phenotypes and ATP7B gene variants among children patients with Wilson' s disease from Northwestern China. METHODS: The clinical features and variants of the ATP7B gene among 75 children with hepatic Wilson' s disease were retrospectively analyzed. RESULTS: Among the 75 cases, 4 were presymptomatic, 59 had isolated transaminase elevation, 12 had acute and/or chronic liver diseases. Nine children were found to harbor homozygous variants, 64 harbored compound heterozygous variants, and two only had heterozygous variants of the ATP7B gene. In total 49 variants were detected, with common variants including c.2333G>T (p.Arg778Leu), c.2621C>T (p.Ala874Val) and c.2975C>T (Pro992Leu), which yielded allelic frequencies of 28.7%, 12.7% and 9.3%, respectively. Six novel variants were detected, which included c.1908dupC (p.Asn637Glnfs*118), c.4179_4180insC (p.Pro1394Profs*15), c.1604A>G (p.Glu535Gly), c.2278C>T (p.Pro760Ser), c.3008C>A (p.Ala1003Glu) and c.3532A>C (p.Thr1178Pro). Except for c.1604A>G (p.Glu535Gly), the remainder five were all predicted to be likely pathogenic. No significant correlation was found between genotype and phenotype among the patients. CONCLUSION The common mutation types of the ATP7B gene among patients with hepatic Wilson disease in Northwestern China are c.2333G>T (p.Arg778Leu), c.2621C>T (p.Ala874Val) and c.2975C>T (p.Pro992Leu), there is no significant correlation between their genotypes and phenotypes.
Copper-Transporting ATPases/genetics* ; Genotype ; Hepatolenticular Degeneration/genetics* ; Humans ; Mutation ; Phenotype ; Retrospective Studies

OBJECTIVE: To explore the genetic basis of a pedigree affected with Alagille syndrome (ALGS). METHODS: Targeted capture and next generation sequencing was carried out for the proband. Candidate variants were verified by Sanger sequencing among his family members. Their pathogenicity of the variant was predicted with bioinformatic analysis. Clinical characteristics and genotype-phenotype correlation were analyzed. RESULTS: The proband, his elder sister and mother were found to carry a heterozygous c.1270dupG (p.Ala424Glyfs*5) variant of the JAG1 gene, which may lead to premature termination of translation and a truncated protein with loss of function. The variant was unreported previously. The phenotypes of the proband (cholestasis, pulmonary artery stenosis and peculiar faces) have differed from those of his elder sister (cholestasis with pruritus, posterior embryonic ring of cornea) and mother (with no clinical manifestation). Cholestasis and peculiar face of the proband became insignificant with age. CONCLUSION The c.1270dupG (p.Ala424Glyfs*5) variant of the JAG1 gene probably underlay the ALGS in this pedigree with incomplete penetrance.
Aged ; Alagille Syndrome/genetics* ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Pedigree ; Phenotype

Objective:To explore the effects of health education on the knowledge and awareness of hypertension in primary and secondary school students.Methods:Twenty seven primary and secondary schools in Emin County of Xinjiang Uygur Autonomous Region were selected in 2014 as study sites; among which 24 schools were randomly assigned as the intervention group and 3 schools were assigned as control group. According to the education methods (classroom teaching, publicity manual, hypertension class reports and the combination of the three) and the frequency of education (1, 2, 3 times per semester), the intervention group were further randomly divided into 12 subgroups with 2 schools in each group. The intervention study was carried out for 3 years.Results:A total 13 402 students were involved in the study, and there were 11 333 students in the intervention group and 2 069 students in the control group. The awareness rates of hypertension concept [41.8% (4 738/11 333) vs. 24.6% (511/2 069), χ 2=154.86, P<0.01], the adverse consequences of hypertension [85.8% (9 735/11 333) vs. 75.4% (1 561/2 069),χ 2=25.80, P<0.01], the hypertension risk factors [84.3% (9 564/11 333) vs. 72.5%(1 501/2 069), χ 2=12.83, P<0.01), and the health behaviors after hypertension [84.9% (9 629/11 333) vs. 67.7%(1 402/2 069), χ 2=187.24, P<0.01] in intervention group were all significantly higher than those in control group. The stratified analysis showed that among students in elementary school, junior high school and high school, there were significant differences in the awareness rate of adverse consequences [94.4% (2 019/2 138) vs. 81.6% (3 829/4 690), 86.2% (3 887/4 505), χ 2=199.31, P<0.01], awareness rate of risk factor [86.8% (1 857/2 138) vs.86.1% (4 038/4 690), 81.4% (3 669/4 505) , χ 2=49.96, P<0.01); and awareness rate of correct behavior [89.9% (1 923/2 138) vs. 86.1% (4 037/4 690), 81.4% (3 669/4 505) χ 2=89.77, P<0.01]. Up to 95.9% (10 868/11 333) students in the intervention group liked the hypertension health education. Conclusion:Based on the school health education curriculum, the intervention measures of hypertension health education are effective, and the awareness rate of hypertension related knowledge among senior high school students is significantly improved.

Betacoronavirus ; Coronavirus Infections ; Humans ; Pandemics ; Pneumonia, Viral ; Single-Cell Analysis

Objective To evaluate the clinical effect of protecting the saphenous nerve with the suture anchor on repairing the medial collateral ligament injury of the knee joint. Methods From June 2014 to June 2016, 48 cases of medial collateral ligament injuries of the knee joint were repaired with suture anchors of the saphenous nerve in the 107th Hospital of PLA. Results All patients were followed up for 12-18 months, with an average of 14.6 months. All the patients were followed up with good stability of the knee joint. The 30 degree flexion stress test of the knee joint showed that 2 cases were positive forⅠdegree, and the stress test of the extension position was negative. The X-ray examination showed that the internal and external articular space of the knee joint was symmetrical and good, and the anchors did not loose or move in the bone. The average knee flexion before operation was (43.19 ± 2.60)°, and 1 year after operation was (135.62 ± 3.68) °. And the flexion of knee 1 year after operation was higher than that before operation (t=5.37, P<0.01). The Lysholm score was (43.19 ± 2.60) points before operation, and 1 year after operation was (93.69 ± 5.39) points, and the postoperative score was higher than that before operation (t=4.85, P<0.01). The grade of efficacy was excellent in 42 cases, good in 4 cases, fair in 2 cases, and the excellent and good rate was 95.8％(46/48). Conclusions The repair of medial collateral ligament injury with suture anchors under the protection of the hidden nerve can effectively prevent the symptoms of numbness in the medial area of the knee joint. It is simple, fixed and can be repaired under direct vision. It is reliable to restore the strength of the ligament and maintain the stability of the medial knee joint. It is worthy of clinical push and wide application.

Objective To determine the protective effect of osteoprotegerin (OPG), receptor activator of nuclear factor kappa-B (RANK) and RANK ligand (RANKL) on avascular necrosis femoral head.Methods Necrotic tissue or corresponding normal tissues were collected from 29 avascular necrosis femoral head patients.Quantitative Real TimePCR ( qPCR ) is used to evaluate mRNA expression of OPG , RANK and RANKL.OPG and RANKL protein levels were estimated by Western blot.Results The results of qPCR showed that the expression of OPG in the necrotic tissue was significantly higher than that in the normal tissue (4.56 ±0.37) (3.39 ±0.52) (P<0.05).The expression levels of RANKL mRNA in necrotic tissues and normal tissues were (0.86 ±0.11) and (0.31 ±0.08), respectively,the difference was statistically significant (P<0.05).The expression levels of RANK mRNA in necrotic tissues and normal tissmes were(0.87 ±0.12), (0.56 ±0.13) respectively,the difference was statistically significant (P<0.05).The ratio of RANKL/OPG and RANK/OPG in normal tissues were 0.69 and 0.52, respectively.In the necrotic tissues, RANKL/OPG and RANK/OPG ratios were 1.35 and 0.61, respectively.Results of Western blot showed that the expression of OPG in necrotic tissues was consistent with that in normal tissues.The expression of RANKL protein was detected in all samples , and the expression of RANKL protein in necrotic tissue and normal tissue was almost the same.RANK protein expression was not detected in all samples.Conclusion OPG, RANK and RANKL play important roles in progress of bone remodeling in necrotic area and in disturbance of bone homeostasis and might have an effect on bone destruction and subsequent collapse of hip joint.

Objective To investigate the echocardiographic features and clinical significance of prenatal diagnosis of fetal double aortic arch (DAA). Methods Totally 21 596 fetuses underwent fetal echocardiography in Nanjing Medical University Afifliated Suzhou Hospital and ifve cases were diagnosed as DAA by echocardiography. Echocardiographic characteristics, types and outcomes of these ifve cases were summarized retrospectively. Results Five fetal cases were diagnosed as DAA by fetal echocardiography. 1. Prenatal echocardiographic features:In three-vessel and trachea view, the normal“V”-shaped conlfuence formed by the aortic arch and ductal arch was absent. However, the ascending aorta bifurcated into the left and right aortic arch and these two arches encircled the trachea. Annular lfow signal around trachea was seen on color Doppler imaging. 2. Types:Among these ifve fetuses, three cases were called right arch predominant type, whose diameters of right arches were larger than those of left arches. The other two were balanced type, whose diameters of right arches were almost equal to those of left arches. 3. Accompanied malformations:Case 2 was accompanied with membranous ventricular septal defect and permanent left superior vena cava. Case 4 was associated by hemivertebrae. The other three cases had no other abnormalities. 4. Follow-up:These five cases were all arranged for MRI subsequently and all were confirmed by follow-up till to the induction of labor or three months after birth. Conclusions Double aortic arch is a kind of severe congenital heart disease. Echocardiography is the ifrst choice to diagnose DAA prenatally and three-vessel and trachea view are the effective cross sections in the diagnosis of double aortic arch.

Objective To summarize the echocardiographic characteristics and clinical signiifcance of prenatal diagnosis of coronary artery ifstula (CAF). Methods Images and follow-up results of ifve fetuses with CAF diagnosed by fetal echocardiography between January, 2011 and December, 2012 in our department were reviewed. Results Echocardiographic characteristics of CAF were a dilated coronary artery in the four chamber view and the left ventricular outlfow tract view. Track the course of the dilated coronary artery can conifrm the oriifce of the ifstula. Among the ifve cases, the oriifce of the ifstula included the aortic root of left ventricular outlfow tract, right atrium side of interatrial septum, the entrance of superior vena cava to right atrium, right ventricular apex and right ventricle cone. The colour Doppler lfow imaging showed turbulence in the dilated coronary artery. The spectral Doppler with the sampling gate in coronary artery showed the characteristic bidirectional lfow pattern. One case was associated with other complex intracardiac abnormalities and one case with persistent left superior vena cava. Among the ifve cases of CAF diagnosed by fetal echocardiography, one case was missed and four cases were conifrmed by postnatal echocardiography. Conclusion Coronary artery ifstula has special fetal echocardiographic characteristics. The fetal echocardiography plays an important role in early detection, diagnosis and treatment of CAF.

Objective To investigate the fetal ultrasonographic features in pregnancies with Toxoplasma (TOX), rubella virus (RV), cytomegalovirus (CMV) and herpes simplex virus (HSV) infection. Methods From January 2011 to March 2013, prenatal ultrasound examination was performed in 545 fetuses with mothers of speciifc positive IgM of TOX, RV, CMV and HSV, detected by enzyme-linked immune sorbent assay (ELISA) in Nanjing Medical University Affiliated Suzhou Hospital. Ultrasonographic features were summarized and pregnancy outcome was followed up in fetuses with abnormal ifndings. Results Among the 545 fetuses, 56 cases with abnormal sonographic ifndings:6 cases with central nervous systerm abnormalities (2 intracranial calcifications, 4 hydrocephaly);9 cases with digestive system abnormalities (1 intrahepatic calcifications, 8 echogenic bowel);2 cases with heart abnormalities (1 interventricular septal defect, 1 right heart enlargement);17 cases with abnormal amniotic fluid volume (16 polyhydramnios, 1 oligohydramnios);3 cases with placental abnormality (1 thick placenta, 2 placenta abnormal calciifcation);13 cases with urinary systerm abmormality appearing as renal sinus separation;and 6 cases with other systerm abnormalities (1 neck lymphatic hygroma, 1 single umbilical artery, 1 sacrococygeal teratoma and 3 intrauterine growth restriction);2 cases of complicated abnormalities. Conclusions Prenatal ultrasonography is signiifcant in detecting serious fetal malformations, such as hydrocephaly, heart abnormalities and characteristic ultrasound features such as intracranial calciifcations, echogenic bowel, placenta abnormal calciifcation complicated with TOX, RV, CMV and HSV infection, providing valuable information for further clinical treatment, such as induced labour.

Objective To investigate the nursing of replantation methods of sea-water soaked rotated avulsion amputated fingers.Methods There were 8 cases (16 fingers) with sea-water soaked rotated avulsion amputated fingers.5 cases were replanted by synchronic replantation method,the other 3 cases were replanted by traditional replantation method.We adopted complete debridement and high quality vascular anastomosis during the operation,and give hyperbaric oxygen therapy and anticoagulant treatment post-operation.Results There were 15 survival fingers in 16 replanted fingers.The survival rate was 93.75％.After follow-up for three months to two years,the total good rate was 87.5％.No wound infection and nonunion of fracture occurred.The outline of the fingers was satisfying and patients felt well.The twopoint discrimination was 3～6 mm after 3～24 months follow-up.Conclusions The injury of sea-water soaked rotated avulsion amputated fingers is complicated and the replantation operation is difficult.but if we can adopt individual measure according to the actual circumstance,it is possible that the sea-water soaked rotated avulsion amputated fingers can survive.