No abstract available.
Genetic Testing

No abstract available.
Histocompatibility Testing* ; Spondylitis, Ankylosing*

This review comments the status quo, especially the major problems, of the genetic analysis of the complex diseases, provides some possible solutions, and explores the further development trends in this field.
Genetic Testing ; Humans

Genetic Testing ; United States

OBJECTIVE: To detect variant of TRNT1 gene in a child featuring sideroblastic anemia with B-cell immunodeficiency, periodic fever and developmental delay (SIFD). METHODS: The proband and his parents were analyzed through trio-whole exome sequencing. Sanger sequencing and bioinformatic analysis were carried out to verify the candidate variant sites associated with the clinical phenotype. RESULTS: Genetic testing showed that the proband has carried compound heterozygous variants of the TRNT1 gene, namely c.88A>G(p.Met30Val) and c.363G>T(p.Glu121Asp). Sanger sequencing confirmed that the variants were respectively inherited from his father and mother. The variants were unreported previously. By bioinformatic analysis, both variants were predicted to affect the stability of binding of the TRNT1 protein with tRNA. Based on the American College of Medical Genetics and Genomics standards and guidelines, c.88A>G and c.363G>T variants of TRNT1 gene were predicted to be uncertain significance (PM2+PP3+PP4) and likely pathogenic (PM1+PM2+PP3+PP4), respectively. CONCLUSION The c.88A>G (p.Met30Val) and c.363G>T(p.Glu121Asp) compound heterozygous variants of the TRNT1 gene probably underlay the disease in this patient. Above finding has enriched the spectrum of TRNT1 gene variants.
Genetic Testing ; Humans ; Nucleotidyltransferases

Background: Pre-implantation Genetic Testing for Aneuploidy (PGT-A) has enabled IVF specialists to screen embryos for abnormalities in chromosome number and structure. Subsequently, healthy embryos are selected for transfer, decreasing the rate of spontaneous miscarriages and improving pregnancy outcomes. In spite of this, almost only half of the PGTdetermined euploid embryos result in a pregnancy. Objective: This study aimed to determine what other factors among euploid embryo transfers will have an association with successful implantation and live birth. Methods: This study retrospectively analyzed 159 IVF-PGS cycles performed in CARMI SLMCGC from January 2017 to December 2019. Of these, a total of 231 euploid embryos (86 single embryo transfers and 73 double embryo transfers) were assessed. The relationship of eight predictive variables (maternal age, maternal BMI, etiology of infertility, history of failed IVF, blastocyst expansion stage, ICM grade, TE grade and endometrial thickness on transfer) with regard to the outcome of successful implantation and live birth among single or double euploid blastocyst transfers were determined via logistic regression analysis. Results: Overall, the implantation rate was significantly lower when using B-grade ICM or C-grade ICM blastocysts as compared to A-grade ICM blastocysts (OR 0.54, 95% CI 0.356- 0.815, p = 0.003). With regard to live birth rate, the success of transfer is statistically lower when using a B-grade or C-grade ICM blastocysts as compared to A-grade ICM blastocysts (OR 0.55, CI 0.354-0.863, p = 0.009). Other predictive factors such as maternal age, maternal BMI, etiology of infertility, number of previous IVF, blastocyst expansion stage, trophectoderm grade and endometrial thickness had no apparent effect on the outcome of implantation and live birth. Conclusion Present study results suggest that only the ICM grade of euploid blastocysts correlates with implantation and live birth in IVF-FET cycles. Therefore, the selection of euploid blastocysts based on the presence of a higher grade ICM is the most predictive factor that determines success among those undergoing IVF with PGT-A.
Live Birth ; Genetic Testing

Background: There is an increase in HIV/AIDS among rehabilitation practitioners in Centers of social labor education. Objective: (1) to evaluate prevalence of HIV and morbidity model of rehabilitation practitioners with HIV(+). (2) To describe knowledge of HIV-infection and health of rehabilitation practitioners with HIV(+). (3) To determine need of counseling related to test, treatment and care of rehabilitation practitioners with HIV (+). Subjects and methods: 297 rehabilitation practitioners in Centers of Social Labor Education No.1 surveyed using structured questionnaire, group discussion, in-depth interview. Results: There were 103 rehabilitation practitioner with HIV(+) accounting for 36%. Morbidity patterns among HIV(+) carriers: 36.2% had combined diseases; HCV 74%; co-infected with HBV (18%); recurrence of one disease 11.%; still good immunology response (74.3% hadTCD4>500 cells/mm3). \r\n', u'49.5% perceived AIDS conversion time, about 30% understood on preventing HIV transmission. Common practice was self-treatment (46%) or checking in local general hospitals (38.5%). There was a great need of drug users in Centers of Social Labor Education No.1 for counseling, testing, providing information, ARV treatment and referral system, connecting them to their relatives. Conclusion: HIV-CTR (counseling, testing and referrals services) model should be soon developed in the Center)\r\n', u'\r\n', u'\r\n', u'
Counseling ; Animal Testing Alternatives ; Therapeutics ;

OBJECTIVETo analyze chemical mechanism of bonding improvement of zirconia via 10-methacryloyloxydecyl dihydrogen phosphate (MDP) conditioning.

METHODSVarious models were created for tetragonal zirconia crystals, molecular MDP, and MDP complex, and tetragonal zirconia crystal. Thermodynamic methods were used to analyze configuration between MDP and tetragonal zirconia crystal through calculation of their Gibbs free energy values and equilibrium constants.

RESULTSTwo potential configurations (double- and single-coordinate) may occur between MDP and ZrO2 crystal clusters. Thermodynamic calculations showed that -147.761 and -158.073 kJ·mol⁻¹ Gibbs free energy were required to form single- and double-coordinate configurations; their negative signs indicate that reactions for both configurations can occur. Equilibrium constant for single-coordinate configuration was 7.72×10²⁵, which was less than that of double-coordinate configuration (4.95×10²⁷), suggesting that the latter was more stable.

CONCLUSIONSMDP can spontaneously establish a double-coordinate configuration with zirconia.
.

The purpose of this study was to investigate how cyclic loading influenced the fracture toughness of hot-press lithium disilicate and zirconia core materials and whether there was an increase in the propensity for crown failure. Two types of all-ceramic crowns including the IPS e.max Press system (n=24) and the Lava zirconia system (n=24), were selected. Sectioned specimens were subjected to cyclic loading with the maximum magnitude of 200 N (R=0.1) until two million cycles. The material properties including Young's modulus (E) and hardness (H) and the fracture toughness (KIC) of the core materials were evaluated using indentation methods (n=12 each). The load-bearing capacities of the specimens were examined by means of monotonic load to fracture (n=12 each). It was found that the material properties, including E, H and KIC, of the two types of dental ceramics, were reduced. Statistical analysis indicated that there were no significant influences of fatigue loading on material properties E and H for both types of dental ceramics or KIC for zirconia, while for the IPS e.max Press core, KIC, which was parallel to the direction of the lithium disilicate crystals, was significantly reduced (P=0.001). A conclusion was drawn that zirconia possesses high mechanical reliability and sustainable capacity to resist fatigue loading, while fatigue loading remarkably degraded the anisotropic mechanical behaviour of hot-press lithium disilicate ceramics.
Crowns ; Humans ; Mastication ; Materials Testing

Grounding impedance measurement is a traditional proficiency testing programs, 2014 proficiency testing program on the basis of original ability to verify, combined with actual detection need, innovation introduced two verification point of the power input socket and metal plane testing. This paper analyzes and discusses the results of the ability verification in 2014, and puts forward the points of attention and the recommended method of metal plane test.
Laboratories ; standards ; Laboratory Proficiency Testing