[Research progress of three-dimensional printed guides in unicompartmental knee arthroplasty].

Unicompartmental knee arthroplasty(UKA) is an important surgical technique for the treatment of end-stage knee osteoarthritis, which has high requirement for the position and angle of the prosthesis. The application of three-dimensional(3D) printed in UKA reflects several characteristics such as accuracy,efficiency and safety,but the current research results show that there is still lack of consistency in the design of 3D printed guides and the standard of prosthetic position parameters. This article reviews the history, manufacturing requirements and process of 3D printed guides during UKA surgery, as well as the results of current clinical research. Whether 3D printed guides can safely and effectively improve the placement accuracy of inexperienced doctors during UKA surgery,and whether the long-term results are worthy of clinical promotion need further verification.

[Phenotype and genotype analysis of recessive hereditary moderate sensorineural hearing loss caused by new mutations in OTOGL gene].

Objective: To perform the phenotype and genetic analysis on two families with moderate sensorineural hearing impairment and determine the cause of deafness. Methods: The phenotype and genetic analysis was performed on the two hearing impairment pedigrees coming to Chinese PLA General Hospital from January 2014 to August 2020. DNA samples of the proband from family 1 and the parents from family 2 were collected and tested through next generation sequencing on all deafness genes, and Sanger sequencing was performed to verify the mutation sites. The reported pathogenic variants of the otogelin-like (OTOGL) gene, the autosomal recessive inherited deafness genes that cause moderate sensorineural hearing loss and the clinical manifestations of the deafness genes that have the similar expression location as the OTOGL gene were summarized and analyzed. Results: The pathogenic variants in the families were compound heterozygous variants in the OTOGL gene c.2773C>T/c.2826C>G (p.Arg925*/p.Tyr942*) and c.4455G>A/c.875C>G (Trp1485*/p.Ser292*), respectively. c.2773C>T was an already reported pathogenic variant causing hearing impairment in the literature, while c.2826C>G, c.4455G>A and c.875C>G were novel reported variant sites. The above four variants were classified as pathogenic variants according to the variant interpretation standards and guideline of the Amercian College of Medical Genetics and Genomics. Conclusions: Pathogenic variants in OTOGL gene is an important genetic factor leading to moderate sensorineural hearing loss. The newly discovered variant sites c.2826C>G, c.4455G>A and c.875C>G enrich the variant spectrum of OTOGL gene. The results of the current study provide a basis for genetic counseling of the related families and a new target for the treatment of hereditary hearing loss in the future.

[The influence of patellofemoral joint degeneration on outcome of Oxford medial unicompartmental knee arthroplasty].

Objective: To explore the influence of lateral patellofemoral joint degeneration on the treatment of anteromedial osteoarthritis of knee joint by Oxford medial unicompartmental knee arthroplasty. Methods: The clinical data of 73 patients (73 knees) with knee osteoarthritis underwent unicompartmental knee arthroplasty at Department of Orthopaedic Surgery, Xuanwu Hospital, Capital Medical University from March 2016 to December 2017 were analysed respectively.There were 18 males and 55 females, aged (68.6±7.5) years(range: 53 to 89 years).The lateral patellofemoral joints of patients were evaluated by Ahlback grading system. Patients with Ahlback 0 andⅠ were in the non degenerative group (37 cases), and those with Ahlback Ⅱ and above were in the degenerative group (36 cases). Hospital for special surgery knee score(HSS) and the Western Ontario and McMaster Universities(WOMAC) osteoarthritis index, as well as the condition of kneeling, sit to stand movement, up stair and down stair were recorded. The data before and after operation were compared by paired sample t test, and the data between groups were compared by independent sample t test. χ(2) test was used for counting data. Pearson correlation analysis was used to compare the correlation between ahlback score, HSS and WOMAC osteoarthritis index. Results: The follow-up time was (35.1±6.6) months (range: 25 to 47 months).The knee function of the patients improved significantly after operation.The HSS score increased from 57.7±11.8 preoperative to 81.8±7.8 postoperative (t=16.64, P=0.00) and WOMAC osteoarthritis index decreased from 48.9±13.4 preoperative to 15.6±8.8 postoperative (t=20.48, P=0.00). There was no statistical difference in the change of HSS between the degenerative group and the non-degenerative group before and after surgery(27.5±12.2 vs. 22.5±12.3, t=-1.65, P=0.10) as well as the change of WOMAC osteoarthritis index(31.8±14.0 vs. 36.4±13.7, t=-1.35, P=0.18), but the lateral patellofemoral joint degeneration was related to inability to complete squats (χ(2)=5.17, P=0.04) and sitting up (χ(2)=7.22, P=0.01). Conclusion: The degeneration of lateral patellofemoral joint has no effect on the early functional recovery of patients with anteromedial knee osteoarthritis after Oxford medial unicompartmental knee arthroplasty.

[Research of the effect of bone mineral density and fracture site of the vertebrae on low back pain in elderly patients with osteoporotic vertebral compression fractures].

OBJECTIVE: To investigate the effect of bone mineral density(BMD) and fracture site of the vertebrae on low back pain in elderly patients with osteoporotic vertebral compression fractures. METHODS: From August 2011 to August 2013, a total of 107 senile patients with osteoporotic vertebral compression fractures underwent percutaneous vertebroplasty were followed up for more than 2 ( average 2.5) years in Department of orthopedics, Xuanwu Hospital, Capital Medical University. The incidence of low back pain after vertebroplasty were analyzed on visual analog scale (VAS), and the relationship between BMD, vertebral fracture site were investigated. RESULTS: A total of 18 cases(16.8%)after vertebroplasty have significant low back pain. Along with BMD decreased [(-2.90±0.91) vs (-4.87±0.52)], the VAS of low back pain increasing, which showed statistical significance difference[(-3.12±0.91) vs (4.03±1.08), P<0.05]. The site of vertebral fracture was lower, the VAS was higher. CONCLUSIONS: About 16.8% patients show obvious low back pain after vertebroplasty. BMD and Vertebral fracture site were important factors of low back pain in elderly patients with osteoporotic vertebral compression fractures after vertebroplasty.

Stimulation of dendritic cell maturation and induction of apoptosis in lymphoma cells by a stable lectin from buckwheat seeds.

The present study aims to purify and characterize lectin from tartary buckwheat seeds and study its properties as well as biological activities to determine its possible biomedical applications in promoting maturation and proliferation of peripheral blood DCs derived from healthy donors and to study the effect of inducing apoptosis in human leukemia U937 cells. A novel tartary buckwheat lectin (TBL) protein, purified from tartary buckwheat seeds, showed a single band with a molecular mass of 65 kDa in SDS-PAGE. The purified TBL hemagglutinated both human and animal erythrocytes and showed preference for blood type O and the rabbit blood type. TBL is active at up to 60°C, and it is acid- and alkali-stable. TBL (25 µg/mL) combined with 5 x 10(-5) M rhIL-4 promotes maturation and proliferation of peripheral blood dendritic cells (DCs), which is stronger than that promoted by rhTNF-α (20 ng/mL). Exposure of DCs to 50 µg/mL TBL for 48 h resulted in extensive upregulation of maturation markers CD83 and CD40. These TBL-DCs were capable of producing several pro-inflammatory cytokines such as interleukin-10 (IL-10) and interleukin-12 (IL-12). The results of the treatment of human leukemia U937 cells with TBL in doses of 12.5, 25, 50, and 100 µg/mL showed that tartary buckwheat-derived lectin induces apoptosis in a dose-dependent manner. Our results encourage the use of tartary buckwheat and tartary buckwheat-derived lectins as immunopotentiating foods, targeted to strengthen immune responses and display a potential dietary supplement for cancer prevention.

Rutin, quercetin, and free amino acid analysis in buckwheat (Fagopyrum) seeds from different locations.

In this study, five common buckwheats and nine tartary buckwheats grown at different locations were analyzed for the contents of rutin, quercetin, and amino acids by high-performance liquid chromatography and spectrophotometry. The rutin content was higher than quercetin in buckwheat seeds. Rutin content was in the range from 0.05 (0.05 g per 100 g dry seeds) to 1.35% of buckwheat seeds. Quercetin content varied from 0.01 to 0.17% and in some common buckwheats it was even difficult to detect. Comparatively, tartary buckwheat seeds contained more rutin and quercetin than common buckwheat seeds. Meanwhile, the bran has higher rutin content than the farina in tartary buckwheat seeds, with a respective content of 0.45 to 1.19% and 0.14 to 0.67%. It was found that amino acid contents were around 1.79 to 12.65% (farina) and 5.74 to 7.89% (bran) in common buckwheats, and 1.73 to 5.63% (farina) and 2.64 to 16.78% (bran) in tartary buckwheat seeds. The highest total rutin content was found to be 1.35% in tartary buckwheat seeds from Sichuan, China. The highest total amounts of amino acid were detected to be 20.13% in tartary buckwheat seeds from Changzhi, Shanxi Province (China). Our results suggested that food products made of whole-buckwheat flour are healthier than those made of fine white flour.

Analysis of HLA-DM polymorphisms in the Chinese Han population.

Non-classical human leukocyte antigen (HLA)-DM plays an important and unique role in the processing and presentation of exogenous antigens. Polymorphisms of certain genes and frequency of alleles in populations may indicate susceptibility to certain diseases. In this study, the analysis of HLA-DMA and HLA-DMB gene polymorphisms and haplotypes in the Chinese Han population was conducted to obtain population genetic data. HLA-DM typing has been performed previously by other groups by polymerase chain reaction (PCR)-restriction fragment length polymorphism and PCR-sequence-specific oligonucleotide probe techniques. In this study, we established a TaqMan PCR typing method as an alternative to these techniques to survey the frequency of DMA and DMB alleles in the population. Genotyping was conducted in 1000 unrelated individuals of Han nationality in South and North China using TaqMan PCR typing. Four different DMA alleles and six different DMB alleles were detected. All loci met the Hardy-Weinberg equilibrium principle that both allele and genotype frequencies in a population remain constant. We found that the DMA*01:01 (69.35%) and DMB*01:01 (52.5%) alleles were more frequent in Chinese Hans. Analysis of the haplotypes for two loci of DMA and DMB showed that a highly significant positive linkage disequilibrium (LD) presented for DMA*01:01-DMB*01:02, DMA*01:01-DMB*01:03, DMA*01:01-DMB*01:04, DMA*01:02-DMB*01:01, DMA*01:02-DMB*01:05, DMA*01:03-DMB*01:07, and DMA*01:04-DMB*01:01 haplotypes. Analysis of haplotypes for four loci associated with antigen processing (DMA-DMB-TAP1-TAP2) showed a highly significant LD in DMA*01:01-DMB*01:04-TAP1*02:01:01-TAP2*01:02, DMA*01: 02-DMB*01:05-TAP1*01:01-TAP2*01:01, and DMA*01:01-DMB*01:03-TAP1* 04:01-TAP2*01:01 haplotypes. The comparison between the Chinese Han population and non-Chinese populations showed that no significant differences were found at the HLA-DMA locus in the Chinese Han population compared with people of German nationality, whereas significant differences presented when compared with Turkish, American Caucasian, Japanese, French, and Italian nationalities. However, at the HLA-DMB locus, highly significant differences presented in the Chinese Han population compared with Germans and Italians. This study lays the foundations for further disease association analyses.

Prevalence of immunoglobulin A deficiency in Chinese blood donors and evaluation of anaphylactic transfusion reaction risk.

OBJECTIVES/AIMS: We investigated the incidence of immunoglobulin A (IgA) deficiency in Chinese population. BACKGROUND: The frequency of IgA deficiency, defined as a serum IgA level of <0.05 mg dL(-1) , has been broadly studied in different ethnic groups. Individuals with IgA deficiency may form specific antibodies against IgA, which can cause an anaphylactic response when the patient receives an IgA-containing blood transfusion. METHODS: A sandwich enzyme-linked immunosorbent assay was performed to screen for IgA deficiency and particle gel immunoassay used for confirmation. IgA antibodies were further detected by the DiaMed anti-IgA test in IgA-deficient blood donors. RESULTS: Of the total 22,609 healthy blood donors screened, only seven cases were confirmed as having IgA deficiency (<0.05 mg dL(-1) ). Another seven cases displayed relative IgA deficiencies, with mean IgA concentrations ranging from 0.39 to 3.70 mg dL(-1) . Anti-IgA was identified in 2 of the 14 IgA-deficient blood donors whose IgA levels were <5 mg dL(-1) . Estimation of the theoretical risk for IgA anaphylactic transfusion reaction was 0.009%. CONCLUSION: The prevalence of IgA deficiency in Chinese is low. However, potential risks exist in performing blood transfusion to IgA-deficient persons, and measures should be taken to reduce IgA anaphylaxis.

Determination of TAP1 and TAP2 polymorphism in the Chinese Han population by real-time TaqMan polymerase chain reaction.

The heterodimeric transporter associated with antigen processing (TAP) complex plays a key role in immune surveillance. TAP1 and TAP2 typing was usually performed by polymerase chain reaction (PCR)-restriction fragment length polymorphism and PCR-sequence-specific oligonucleotide probe. As an alternative to these methods, we have established TaqMan assays to determine the frequencies of the TAP1 and TAP2 alleles. We have used these new TaqMan assays to genotype the polymorphisms in 339 unrelated Chinese Hans residing in North and South China. We detected five TAP1 and four TAP2 alleles. All the loci conform to the Hardy-Weinberg expectations. The most frequent alleles in Chinese Hans were TAP1*0101 (79.79%) and TAP2*0101 (82.74%). The two-locus haplotype analysis showed highly significant positive linkage disequilibrium for one TAP1-TAP2 haplotype (TAP1*020101-TAP2*0102), three TAP1-DRB1 haplotypes (TAP1*020101-DRB1*03, TAP1*020102-DRB1*13, and TAP1*0301-DRB1*16), and three TAP2-DRB1 haplotypes (TAP2*0102-DRB1*09, TAP2*0103-DRB1*04, and TAP2*0201-DRB1*01). The three-locus haplotype analysis showed highly significant positive linkage disequilibrium for TAP1*0101-TAP2*0101-DRB1*07, TAP1*0101-TAP2*0103-DRB1*04, TAP1*020101-TAP2*0101-DRB1*03, and TAP1*020101-TAP2*0102-DRB1*13. Comparison of the allele frequencies with those of other populations showed that the TAP1 allele distribution was very similar in all the groups, except for the Guarani, Kaingang, and Anatolian populations, but TAP2 distribution was significantly different from that of the other populations. The new TaqMan method provides relatively accurate, high-resolution, simple, and fast assays for TAP genotyping.

Establishment of an HPA-1- to -16-typed platelet donor registry in China.

In order to determine gene frequencies of human platelet antigen (HPA) and establish a panel of accredited HPA-1a, -2a, -4a, -5a and -6a-negative donors as well as an HPA-typed platelet donor registry, a total of 1000 Chinese donors of Han nationality (500 from north China and 500 from south China) were typed for HPA-1 through -16 using a DNA-based polymerase chain reaction with sequence-specific primers genotyping method. The gene frequencies of HPA-1b, -2b, -3b, -4b, -5b, -6bw, -10bw and -15b were 0.0060, 0.0485, 0.4055, 0.0045, 0.0140, 0.0135, 0.0005 and 0.4680, respectively. The HPA-7bw, -8bw, -9bw, -11bw, -12bw, -13bw, -14bw and -16bw alleles were not found. The HPA-2b and -5b homozygous donors were detected at low frequencies. The HPA mismatch probabilities potentially leading to alloimmunization in random platelet transfusion vary with a region from 0.1% to 37% depending on the distribution patterns of common and less common alleles in each system. This study provides a useful HPA-typed plateletpheresis donor registry in China and could improve platelet antibody detection and HPA-matched platelet transfusion in alloimmune thrombocytopenic patients.

Study on the haplotypes of MICA and MICB microsatellite and HLA-B locus in the Guangzhou Han population.

The purpose of this study was to investigate the genetic polymorphisms and haplotypes of microsatellite locus in exon 5 of the MICA gene and intron 1 of the MICB gene and human leukocyte antigen-B (HLA-B) gene based on 106 samples of the Guangzhou Han population through means of polymerase chain reaction and the fluorescent technique (6-FAM). The corresponding haplotype frequencies, linkage disequilibrium values and relative linkage disequilibrium values were estimated based on population data. The results show that the genotype distributions of MICA and MICB microsatellite and HLA-B satisfy the Hardy-Weinberg equilibrium. In total, five alleles of MICA microsatellite locus and 14 alleles of MICB microsatellite locus were observed. MICA A5 was the most common allele (0.2877), whereas A4 was the least common (0.1321). MICB CA14 was the most common allele (0.3255), and CA19 and CA28 were the two least common (0.0047). CA27 was not observed at all. Five kinds of MICA-MICB haplotypes, 18 kinds of MICA-HLA-B haplotypes and 12 kinds of MICB-HLA-B haplotypes occurred at frequencies of more than 1%. The common haplotypes of MICA-MICB, MICA-HLA-B and MICB-HLA-B were A5-CA14, A5.1-CA18, A4-CA26, A9-CA15, A5-B*15(62), A5.1-B*1301/1302, A4-B*1301/1302, A6-B*51, A6-B*4403, A9-B*3802, CA14-B*4601, CA18-B*1301/1302 and CA26-B*1301/1302, and these haplotypes showed strong linkage disequilibrium. The polymorphisms and haplotype distributions of MICA and MICB microsatellite and HLA-B locus in the Guangzhou Han population have their own distinct genetic characteristics. The microsatellite locus of exon 5 of the MICA gene and intron 1 of the MICB gene could therefore be used as genetic markers in the studies of anthropology, gene linkage analysis in genetic diseases, individual identification and paternity testing in forensic medicine.

[HLA-Cw genotyping of serologically and non-serologically defined alleles using sequence-specific primers (PCR-SSP) in a Shanghai Han population].

The new classical complement-mediated microlymphocytotoxicity test can detect a total of 10 different serologically defined antigen specificities (CWl-10) encoded by HLA-Cw locus. However, the blank amounts to 20%-50% for there are Cw antigens which can not be detected with antisera available. We adopted a PCR-SSP method to genotype a sample of 70 subjects collected from a Chinese Han population in Shanghai. We identified for the first time the following non-serologically defined HLA-Cw alleles in the Chinese Han population: Cw*1201/1202,1203,1301,14,1601,1602,1701, and also the serologically defined HLA-Cw alleles such as: Cw*01,02,0302/0304,0303,04,0501,0602,0701/0702/0703,08. With this sample we have made a survey of HLA-Cw allele frequencies in a Chinese Han population in Shanghai, with blank frequency being lowered from 0.307 to 0.028. The Cw*08 was originally considered to be rare in Chinese population. However, we found 12 cases of Cw*08 in this sample, which clearly does not coincide with the original point of view. Our results confirmed that PCR-SSP typing is rapid and accurate for HLA-Cw alleles.

[Effect of zuoguiwan on early embryonic development of mice].

Effects of Zuoguiwan (ZGW, a prescription for reinforcing Kidney Yin) on early embryonic development were observed by using embryonic developmental retardation model of mice formed by alcohol. Drug was given in three ways: add ZGW into cultural medium directly (group A), add the serum of mice received ZGW (group B) and cultured the embryo taken from ZGW treated mice (group C). The result was compared with that treated with Bazhen decoction (BZD, a prescription for supplementing Qi and blood). Results showed that the in vitro developmental rate of embryo from 2-cell stage to blastula stage in group B and C, which approached to normal control group, was higher than that in untreated model obviously. While in BZW group, it was higher than in normal control group only in certain stage. However, adding ZGW directly into culture medium didn't reveal marked effect on early embryonic development.