Objective: To study the biodegradable of coral PLA composite artifical bone combined with bBMP or rhBMP as a new kind of bone substitute material. Methods: The composites were implanted into the muscle pouches of mice after combined with rhBMP-2 or bBMP respectively. Ectopic osteoinductive activity of rhBMP-2 or bBMP was examined and compared by histology and histo-morphometry.Results: rhBMP-2 and bBMP had different osteoinductivety. rhBMP-2 appeared to induce less bone and more angioid tissue and marrow. While bBMP seemed to have opposite effects. Conclusion: bBMP is more osteoinductive than rhBMP-2.

Objective To characterize the mutation of phenylalanine hydroxylase (PAH) gene in patients with phenylketonuria(PKU) in Ningxia area,China.Methods Seventy-three children diagnosed with PKU at the Child and Maternal Healthcare Hospital of Ningxia Hui Autonomous Region between January 2010 and June 2013,and 100 non-PKU children randomly chosen from children with normal results in PKU screening were enrolled in the study.Venous blood was collected and the PAH gene sequence was determined by direct DNA sequencing after amplification with the polymerase chain reaction technique.The new gene mutations were defined based on the national and international literature search and databases.The source of the newly discovered mutations was also measured by examining and sequencing the blood samples of their parents.The Chi-square test was used for statistical analysis.Results Among 146 alleles of the 73 PKU children,the detection rate of mutation of PAH gene was 79.5％ (116/146),including 37 types of mutations occurring in 11 exons other than exon 2 and exon 13.The 37 different mutations included 22 missense mutations (59.5％,22/37),six nonsense mutations(16.2％,6/37),six splice site mutations(16.2％,6/37) and three deletion mutations(8.1％,3/37).p.R243Q(17.1％,25/146),EX6-96A ＞ G (6.8％,10/146),p.R241C(6.2％,9/146),p.R413P (5.5％,8/146),p.Rl11X(4.8％,7/146) and IVS4-1G ＞ A(4.8％,7/146) were found to have a higher mutation frequency.Meanwhile,p.R243Q was the most common mutation among Han and Hui ethnic groups with a frequency of 18.8％(12/64) and 15.9％ (13/82),respectively.In contrast,p.R241C showed a significant higher frequency in the Hui group [9.8％(8/82) vs 1.6％(1/64),x2=4.17,P=0.04].Four new mutations of PAH genes,including p.Q304K,p.H107R,p.F392I and p.N223I,were discovered after literature search and comparative studies.Conclusions PAH gene mutations in children with PKU in Ningxia area are unique and are characterized by the diversity and complexity of mutation occurrence in this ethnic region.

OBJECTIVETo study the effects of artificial bone composite of bicoral, rhBMP-2 and PLA in repairing calvarial critical-size defects.

METHODSCalvarial defects in 24 rabbits were surgically made and then half of the defects were repaired with the artificial composite bone. Another half of them were repaired with bicoral/PLA composite and served as controls. Four rabbits in each group were sacrificed at 4, 8, 12 weeks after operation, respectively. The treatment effects were evaluated with scanning electron microscopy and mechanical strength testing.

RESULTSNew bone was observed not only in the periphery, but also inside the artificial bone in both groups, but earlier and more new bone formation was observed in treatment group compared with control group. The mechanical strength test showed that the artificial bone in two groups, which had same mechanical strength before implantation, had significant different mechanical strength after operation. The strength of the artificial composite bone was higher than that of controls and was same with normal rabbit calvarial bone.

CONCLUSIONThe artificial composite bone possess a highly repairing ability, and the healing in bone defects may be accomplished by both osteoinductive and osteoconductive mechanism. The material may be used as a good substitute for bone grafting.

Animals ; Anthozoa ; Biocompatible Materials ; Bone Morphogenetic Protein 2 ; Bone Morphogenetic Proteins ; pharmacology ; therapeutic use ; Bone Regeneration ; drug effects ; Bone Substitutes ; therapeutic use ; Implants, Experimental ; Lactic Acid ; therapeutic use ; Polyesters ; Polymers ; therapeutic use ; Rabbits ; Recombinant Proteins ; pharmacology ; therapeutic use ; Skull ; injuries ; surgery ; Transforming Growth Factor beta

OBJECTIVETo determine the type and frequency of phenylalanine hydroxylase gene (PAH) mutations in ethnic Hui patients from Ningxia with phenylketonuria (PKU).

METHODSFor 35 PKU children patients and 50 healthy individuals, all exons and promoters of the PAH gene were analyzed with PCR and direct sequencing.

RESULTSTwenty mutations, including 8 missense mutations (40%), 5 nonsense mutations (25%), 4 splice site mutations (20%) and 3 deletion mutants (15%) were discovered. The overall detection rate was 68.57% (48/70). Common mutations have included R243Q (12.86%), R241C (11.43%), EX6-96A to G (5.71%), Y356X (5.71%), R413P(4.29%) and Q232X(4.29%), whilst rarer ones have included S16fsX10 (2.86%), R111X (2.86%) and L430P (2.86%). Among these, S16fsX10, L430P, D222G and IVS11+ 1G to A have not been reported previously. Y414X and S303fsX38 have not been reported in Hui ethnic group. No mutation was detected in the 50 normal controls.

CONCLUSIONThe types and distribution of PAH gene mutations in ethnic Hui from Ningxia have been different from other areas of China. The mutations also showed a rich diversity.

Adolescent ; Asian Continental Ancestry Group ; genetics ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Phenylalanine Hydroxylase ; genetics ; Phenylketonurias ; enzymology ; genetics

Pain is the most common and severe symptom of endometriosis. However,there is no effective treatment nowadays,and the mechanism of endometriosis pain remains poorly defined. Mast cells are immune cells that can interact with sensory nerves to induce endometriosis pain. Recent studies have shown that mast cells play a vital role in the development of endometriosis pain. This article summarizes the latest research to highlight advances in mast cells involving in endometriosis pain through inflammatory response,angiogenesis,nerve growth,and peripheral and central sensitization,hoping to provide new ideas for the mechanism research and clinical treatment of endometriosis pain.

Objective:To establish a disease risk prediction model for the newborn screening system of inherited metabolic diseases by artificial intelligence technology.Methods:This was a retrospectively study. Newborn screening data ( n=5 907 547) from February 2010 to May 2019 from 31 hospitals in China and verified data ( n=3 028) from 34 hospitals of the same period were collected to establish the artificial intelligence model for the prediction of inherited metabolic diseases in neonates. The validity of the artificial intelligence disease risk prediction model was verified by 360 814 newborns ' screening data from January 2018 to September 2018 through a single-blind experiment. The effectiveness of the artificial intelligence disease risk prediction model was verified by comparing the detection rate of clinically confirmed cases, the positive rate of initial screening and the positive predictive value between the clinicians and the artificial intelligence prediction model of inherited metabolic diseases. Results:A total of 3 665 697 newborns ' screening data were collected including 3 019 cases ' positive data to establish the 16 artificial intelligence models for 32 inherited metabolic diseases. The single-blind experiment ( n=360 814) showed that 45 clinically diagnosed infants were detected by both artificial intelligence model and clinicians. A total of 2 684 cases were positive in tandem mass spectrometry screening and 1 694 cases were with high risk in artificial intelligence prediction model of inherited metabolic diseases, with the positive rates of tandem 0.74% (2 684/360 814)and 0.46% (1 694/360 814), respectively. Compared to clinicians, the positive rate of newborns was reduced by 36.89% (990/2 684) after the application of the artificial intelligence model, and the positive predictive values of clinicians and artificial intelligence prediction model of inherited metabolic diseases were 1.68% (45/2 684) and 2.66% (45/1 694) respectively. Conclusion:An accurate, fast, and the lower false positive rate auxiliary diagnosis system for neonatal inherited metabolic diseases by artificial intelligence technology has been established, which may have an important clinical value.