No abstract available.
Genetic Testing

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

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

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

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 ;

OBJECTIVE: To explore the conversion of resin monomer, the change of inorganic component and the influencing factors on the oxygen inhibition layer formed on the cured surface of resin cement. METHODS: Three kinds of resin cement were divided into three groups: (1) light-cured group: RelyX Veneer, NX3 (light-cured), Variolink N; (2) dual-cured group: RelyX U200 Automix, NX3 (dual-cured), Multilink Speed; (3) chemically-cured group, and the above 3 types of dual-cured resin cement cured without illumination could be used as chemically-cured resin cement. Each sample was provided with and without oxygen exposure of two matching surfaces, cured respectively, and the variables of light intensity and illumination time were set in the light-cured group and the dual-cured group. Scanning electron microscopy was used to observe the samples' surface morphology. Energy dispersive spectrometer was used to analyze the samples' composition of surface elements. Confocal Raman spectroscopy was used to measure the monomer conversion of resin cement and to obtain the thickness of the oxygen inhibition layer. RESULTS: (1) On the surface of cured resin cement, the weight percentage of oxygen element in the aerobic side was higher than that in the anaerobic side (P < 0.05), and the weight percentage of inorganic element was lower than that in the anaerobic side (P < 0.05). (2) The surface monomer conversion of the cured resin cement on the aerobic surface was significantly lower than that on the anaerobic surface (P < 0.05), and the surface monomer conversion on the aerobic surface and the anaerobic surface was the lowest in the chemically-cured group (P < 0.05), the dual-cured group was the highest (P < 0.05), and the light-cured group was between them. With the increase of light intensity or illumination time, the surface monomer conversion increased (P < 0.05). (3) The thickness of the oxygen inhibition layer was the thickest in the chemically-cured group [(40.27±2.81) μm](P < 0.05), the thinnest in the dual-cured group [(21.87±5.42) μm](P < 0.05) and light-cured group [(23.73±3.84) μm] was between them. With the increase of light intensity or illumination time, the thickness of the oxygen inhibition layer of resin cement decreased (P < 0.05). CONCLUSION When resin cement is exposed to oxygen, it will form an oxygen inhibition layer, its surface's inorganic filler is less, the surface monomer conversion is lower. The surface monomer conversion and the thickness of oxygen inhibition layer are affected by curing mode and illumination factors.
Materials Testing ; Oxygen ; Resin Cements

Recently, the Korean government introduced a regulatory sandbox that includes direct-to-consumer (DTC) genetic tests. Several genetic testing companies received approval for predictive DTC genetic tests for conditions ranging from cancer to chronic diseases. However, it is not evident how DTC tests should be carried out and interpreted. It does not seem to estimate the accuracy of the predictive genetic testing from a two-year exemption trial. However, clinical laboratories can no longer explore innovative approaches to genetic testing because of the restrictive regulatory and legal environment. Genetic testing companies can provide DTC services without restrictions on facilities, equipment, and personnel although those testing services were not fully supported scientifically. Present situation in Korea on DTC genetic test should be reformed.
Chronic Disease ; Genetic Testing ; Korea

Introduction: The Philippines faces an increasing incidence of HIV. Timely and regular HIV testing can be a preventive method against HIV infection because early detection of the virus leads to early access to treatment. This can lead to viral suppression in which the virus becomes undetectable and untransmittable. Repeat HIV testing is recommended to men who have sex with men (MSM) and other individuals with previous or ongoing risk of acquiring HIV. Following the Reasoned Action Approach model, providing behavioral interventions in promoting retesting among MSM first needs the identification of their salient beliefs toward a repeat test. Method: A qualitative cross-sectional study was conducted. Thirty HIV non-reactive MSM from a community-based HIV testing and counseling center took part in the study. Participants were asked questions designed to elicit salient behavioral, normative, and control beliefs toward a repeat HIV test three to six months following the receipt of the non-reactive HIV screening test result. Results: The most salient belief on the positive consequence of a repeat test was having peace of mind with one’s status; while the most salient belief on the disadvantages was investing in time and travelling as well as experiencing pain from the needlestick. Close friends were the most cited normative referent. Accessibility of facilities and time were believed to be the most salient facilitator and barrier, respectively. Conclusion HIV/AIDS counselors and administrators can become key persons in increasing regular HIV testing by bringing messages that address the unearthed salient beliefs of MSM toward repeat testing. The salient beliefs extracted from the participants can provide basis for behavioral interventions; however, a formal test through a quantitative study of a larger sample is warranted to identify beliefs that significantly affect attitudinal, normative, and control factors of retest intention.
HIV Testing ; Sexual and Gender Minorities