Objective To compare the bone status between Shanghai and Caucasian infants at birth by quantitative ultrasound (QUS) and evaluate its clinical application. Methods An ultrasound bone sonometer, Omnisense (Sunlight Medical Ltd, Israel), was used to measure the bone speed of sound (SOS) of tibia in 157 Shanghai infants, and then compared with those of Caucasian. Results No significant difference of SOS was found between male [n=88, (2968?115) m/s] and female infants [n = 69, (2956?105) m/s](P=0. 524). The SOS of premature infants [(2935?96) m/s] was lower than that of full-term infants [2984?116) m/s] (P = 0. 005). Comparing with Caucasian infants, the tibial SOS was lower in Shanghai infants. The differences of SOS, which were defined as Z-Score, in Shanghai infants were more remarkable in female infants (-0. 81?0.92 Z-Score) than that of male (-0. 55?0. 97 Z-Score), and in full-term infants ( -0. 80?1. 03 Z-Score)than in premature infants (-0. 50?0. 83 Z-Score) , and in infants with normal birth weight than in infants with lower birth weight. Conclusions QUS is suitable for evaluating bone status in infants. Shanghai infants have lower bone strength than Caucasian's and the difference becomes more significant in the last trimester.

Objective To study and establish a high quality digital 3D anatomical modeling of the mandible with full teeth.Methods A set of accurate digital models of standard anatomical specimens of mandibular teeth were obtained by laser scanning, and the 3D mandible model was reconstructed by CT scan data;then, a registration deformation method based on the geometry and image anatomical landmark was employed to do the registration of each tooth to the mandible model, and finally the tooth enamel , dentin, periodontal ligament were generated .Results A high quality digital 3D anatomical modeling of the mandible with full teeth was built , each tooth had detail crown and whole root , the distinction between the enamel , dentin, periodontal ligament , and any anatomical regions can be zoomed and rotately displayed . Conclusion The digital 3D anatomical modeling of the mandible with full teeth has realistic 3D imaging view and convenient teaching-learning function , and has tremendous apllication futures in the stomatology , maxillofacial and other medical departments .

Objective To investigate the effects of postconditioning with α7 nicotinic acetylcholine receptor (α7nAChR) agonist and ischemia on myocardial ischemia-reperfusion (IR) injury in rats. Methods Fifty adult male SD rats weighing 290-320 g were randomly divided into 5 groups ( n = 10 each): Ⅰ sham operation group, Ⅱ IR group, Ⅲ ischemic postconditioning group, Ⅳ α7nAChR agonist postconditioning group and Ⅴpostconditioning with α7nAChR agonist and ischemia group. Myocardial I/R was induced by ligation of anterior descending branch of left coronary artery for 30 min followed by 1 80 min of reperfusion. In group] the anterior descending branch was only exposed but not ligated. In group Ⅲ the hearts were subjected to 3 episodes of 10 second ischemia at 10 second intervals at the end of 30 min ischemia before 180 min reperfusion, Intraperitoneal PNU282987 2.4 mg/kg was injected at the end of 30 min ischemia before 180 min reperfusion in group Ⅳ and Ⅴ .Blood samples were taken from right internal jugular vein at 180 min of reperfusion. Then the rats were killed and hearts removed to determine the concentrations of serum cardiac troponin-I (cTnI), TNF-α and high-mobility group box 1 (HMGB1) by ELISA. The infarction size was measured by Evans blue and triphenyltetrazolium chloride staining. Results The infarction size was significantly larger in the other groups and concentrations of serum cTrI, TNF-α and HMGB1 were significantly higher in group Ⅱ than in group Ⅰ ( P ＜ 0.05). The infarction size was significantly smaller and concentrations of serum cTnI, TNF-α and HMGBI were significantly lower in group Ⅲ, Ⅴ than in group Ⅱ (P ＜ 0.05). The infarction size was significantly smaller in group Ⅴ and concentrations of serum cTnI, TNF-α and HMGB1 were significantly lower in group Ⅳ and Ⅴ than in group Ⅲ (P ＜0.05). The infarction size was significantly smaller and concentrations of serum cTnI, TNF-α and HMGB1 were significantly lower in group Ⅴ than in group Ⅳ ( P ＜ 0.05 ). Conclusion Postconditioning with α7nAChR agonist and ischemia can reduce myocardial I/R injury and the efficacy is better than that of α7nAChR agonist postconditioning or ischemic postconditioning alone.

Ten cell strains were obtained from the human gastric cancer cell line BGC-823 by using the method of single cell cloning. Through inoculation of these cell strains in nude mice and subsequent observation of their metastatic capability, four cell lines, C_1, C_6 with high, and C_5, C_8 with low metastatic capability were selected out; and their biological and morphological properties were studied. It was demonstrated that all of them did not show apparent difference in growth ability, but morphologically, the mictovilli of C_5 and C_8 cells were scarce and short; and their microfilaments were thick, straight and well organized. Whereas the microvilli of C_1 and C_6 strains were long and abundant comparatively, but their microfilaments were poorly organized. On the basis of present observation,we suggested that the organization of microfilaments in cancer cells appeared to bear reversed relationship with their metastatic capability.

Objective To study the gene mutation of a Chinese family with Alport syndrome and to perform preimplantation genetic diagnosis before embryo implantation.Methods Next generation sequence analysis was done for checking COL4A3,COL4A4 and COL4A5 genes in the Alport syndrome family members.Array comparative genomic hybridization(CGH) was used to detect the embryos.Results A mutation c.2605G ＞ A was found and identified in COL4A5 gene of all of the Alport syndrome patients in the family,but COL4A3 and COL4A3 genes were normal in all of the detected people.After searching for the mutation database,the mutation c.2605G ＞ A of COL4A5 gene was related to the X-linked dominant Alport syndrome.Three embryos were detected by using the preimplantation genetic diagnosis.Among these embryos,there were two male and one female.One of the male embryos was chromosomal aneuploidy,which was 45,XY,-16 and the other was normal.This normal embryo was implanted,and after 20 weeks the prenatal amniocentesis diagnosis approved that the fetus was normal.Conclusions The mutation of COL4A5 gene (c.2605 G ＞ A) is the cause of Alport syndrome in this family,which indicates that next generation sequence analysis proves to be an accurate and rapid method to detect Alport syndrome disease.Meanwhile array CGH can be used to reduce birth rates as a useful preimplantation genetic diagnosis method.

Objective To compare the effects of ischemic preconditioning versus ischemic postconditioning on myocardial ischemia-reperfusion (I/R)-induced inflammatory response in rats. Methods Forty male SD rats weighing 290-320 g were randomly divided into 4 groups ( n = 10 each): Ⅰ group sham operatin (group S); Ⅱ group I/R; Ⅲ group ischemic preconditioning (group IPC) and Ⅳ group ischemic postconditioning (group IPOC).Myocardial I/R was induced by 30 min ligation of left anterior descending branch (LAD) of coronary artery followed by reperfusion. In group IPC myocardial I/R was preceded by 3 cycles of ischemia followed by reperfusion (each lasting 5 min) while in group IPOC 3 cycles of I/R (each lasting 10 s) was started at the end of 30 min myocardial ischemia. MAP, HR and RPP ( MAP × HR) were recorded before (baseline) and at 1 and 20 min of ischemia and 60, 120 and 180 min of reperfusion. Venous blood samples were collected at 30 and 180 min of reperfusion for determination of serum concentrations of TNF-α, IL-6, high-mobility group box 1 (HMGB1) and cTnI. The animals were sacrificed at 180 min of reperfusion and the myocardial infarct size was measured. Results Myocardial I/R significantly decreased MAP and RPP and increased myocarcial infarct size, serum concentrations of TNF-α, IL-6,HMGB1 and cTnI in group I/R as compmed with group S. Ischemic pre- and postconditioning significantly increased MAP and reduced myocardial infarct size and I/R-induced increase in serum TNF-α, HMGB1 and cTnI concentrations in group Ⅲ and Ⅳ as compared with group Ⅱ (I/R). The myocardial infarct size was significantly larger and the serum concentrations of TNF-α, IL-6 and HMGB1 were significantly higher in ischemic postconditioning group than in the preconditioning group. Conclusion Ischemic preconditioning is more effective in attenuating the myocardial I/R-induced inflammatory response than the ischemic postconditioning.

Objective To evaluate the preventive efficacy of oral small-dose thyroid hormone tablet premedication for a short time on euthyroid sick syndrome (ESS) in children undergoing open heart surgery under cardiopulmonary bypass (CPB) .Methods Forty ASA Ⅰ or Ⅱ children aged 3-12 yr, weighing 10-30 kg, scheduled for elective congenital heart disease surgery under CPB, were randomly allocated into 2 groups ( n = 20 each):placebo group (group P) and thyroid hormone tablet group (group T). Group T received oral thyroid hormone tablets 0.4 mg/kg every day for 4 consecutive days before surgery, while group C were given placebo. CPB was routinely established, and mild hypothermia, moderate hemodilution and high flow perfusion were adopted. Blood samples were taken from radial veins before administration (baseline) and on 1st, 2nd and 4th day after surgery to detect the serum concentrations of triiodothyronine (T3), thyroxine (T4) and thyroid stimulating hormone (TSH).SP, DP and HR were recorded before administration, immediately after surgery, and on 1st and 2nd day after surgery. The endotracheal extubation time, length of ICU stay, application of positive inotropic agents and occurrence of ESS were recorded. Results No significant difference was found in hemodynamic parameters, endotracheal extubation time and length of ICU stay between the two groups ( P ＞ 0.05). As compared with the baseline values,the serum T3 levels on 1st, 2nd and 4th day after surgery, and the serum TSH levels on 1 st day after surgery were significantly decreased in the two groups, and the serum T4 levels were significantly decreased on 1 st day after surgery in group P ( P ＜ 0.05). The serum levels of T3 and T4 were significantly higher, the severity of postoperative ESS and the number of positive inotropic agent administration were significantly lower in group T than in group P (P ＜ 0.05 ). Conclusion Although oral small-dose thyroid hormone tablet premedication for 4 days (0.4 mg/kg per day) can reduce the severity of postoperative ESS, but it can not prevent the occurrence of ESS in children undergoing open heart surgery under CPB.

Objective: To analysis the pathogenic mutation and the clinical characteristics of a three generation family with congenital pulverulent cataract. Methods: A congenital cataract family was chosen from the First Affiliated Hospital of AnHui Medical University, 5 ml peripheral blood was obtained from each family member to extract genomic DNA.Next generation sequencing was used to detect the mutation in proband (Ⅱ5), Ⅱ6 and Ⅲ8, and Sanger sequencing was applied to verify pathogenic mutation in the whole family members.The mutation site was compared with the gene sequence of 10 000 normal Chinese.PolyPhen-2 and SIFT were applied to analysis the alteration on the protein structure and function and its possible pathogenesis.This study followed the Declaration of Helsinki and was approved by the Ethics Committee of AnHui Medical University (NO.PJ2017-5-17). All patients signed informed consent. Results: The pedigree consisted of 19 members of three generations, including 10 patients and 9 normal family members.Heterozygous mutation of GJA3 gene c. 427G>A (p.G143R) was detected in all patients of the pedigree, but was not found in normal members of the pedigree and 10 000 normal Chinese.The score calculated from SIFT and PolyPhen-2 indicated that the mutation probably had malignant effect on normal protein structure, Swiss-model website analysis showed that the mutation likely altered the secondary structure of the protein CX 46 by reducing an α-helix between 107-115 amino acids.Meanwhile, c.1325-1G>T mutation of HSF4 gene were detected in Ⅱ5 and Ⅲ8, which was not found in other family members and 10 000 normal Chinese.HSF and MaxEntScan results showed that the mutation probably had serious effect on the splicing of mRNA.The cataract development rates of Ⅱ5 and Ⅲ8 were faster than that of the same age in the same generation of the pedigree, and the morphology of lens opacity was changed. Conclusions The heterozygous c. 427G>A mutation in GJA3 gene is responsible for pulverulent cataract in this family, meanwhile the c. 1325-1G>T mutation in HSF4 gene may change the type of phacoscotasmus and accelerate the progress of disease.

OBJECTIVETo screen potential mutations of PRRT2 gene in a Chinese family affected with paroxysmal kinesigenic dyskinesia (PKD).

METHODSPolymerase chain reaction, DNA sequencing and restriction endonuclaese analysis were used to analyze all members of the family.

RESULTSA heterozygous mutation c.649dupC was identified in the PRRT2 gene in all patients, while no similar mutation was found in healthy members from the family.

CONCLUSIONThe c.649dupC mutation of the PRRT2 gene probably underlies the PKD in this family. Prenatal diagnosis can reduce the risk for further birth of affected children for this family.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Child, Preschool ; China ; DNA Mutational Analysis ; Dystonia ; genetics ; Female ; Frameshift Mutation ; Humans ; Male ; Membrane Proteins ; genetics ; Middle Aged ; Molecular Sequence Data ; Nerve Tissue Proteins ; genetics ; Young Adult

OBJECTIVETo determine the origin of chromosomal aberration in a boy with mental retardation and multiple congenital malformations.

METHODSThe karotypes of the proband and his parents were analyzed with conventional G-banding. Their genomic DNA was analyzed with array comparative genomic hybridization (aCGH).

RESULTSNo karyotypic abnormality was detected in the proband and his parents. aCGH has identified a de novo 405 kb deletion at 9q34.3 in the proband, which encompassed the EHMT1 gene and part of CACNA1B gene.

CONCLUSIONThe de novo 9q34.3 deletion probably underlies the mental retardation and development delay in the boy. EHMT1 may be one of the key genes responsible for 9q34.3 microdeletion syndrome.

Child ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 9 ; genetics ; Comparative Genomic Hybridization ; Craniofacial Abnormalities ; genetics ; Heart Defects, Congenital ; genetics ; Histone-Lysine N-Methyltransferase ; genetics ; Humans ; Intellectual Disability ; genetics ; Karyotyping ; Male