Preimplantation Genetic Diagnosis of Androgen Resistance Syndrome Caused by Mutation on the AR Gene in Vietnam.

Background: Androgen resistance syndrome or androgen insensitivity syndrome (AIS - Androgen Insensitivity Syndrome, OMIM 300068) is an X-linked recessive genetic syndrome causing disorders of sexual development in males. This disease is caused by mutations in the AR gene located on the X chromosome, which encodes the protein that structures the androgen receptor, with the role of receiving androgens. Mutation of the AR gene causes complete or partial loss of androgen receptor function, thereby androgen not being obtained and exerting its effect on target organs, resulting in abnormalities of the male reproductive system due to this organ system, differentiating towards feminization under the influence of estrogen. Disease prevention can be achieved by using pre-implantation genetic diagnosis, which enables couples carrying the mutation to have healthy offspring. Aim: To carry out preimplantation genetic diagnosis of androgen resistance syndrome. Methods: Sanger sequencing was used to detect the mutation in the blood samples of the couple, their son, and 01 embryo that were biopsied on the fifth day based on the findings of next-generation sequencing (NGS) of the affected son. We combined Sanger sequencing and linkage analysis using short tandem repeats (STR) to provide diagnostic results. Results: We performed preimplantation genetic diagnosis for AIS on an embryo from a couple who had previously had an affected son. Consequently, one healthy embryo was diagnosed without the variant NM_000044: c.796del (p.Asp266IlefsTer30). Conclusion: We report on a novel variant (NM_000044: c.796del (p.Asp266IlefsTer30)) in the AR gene discovered in Vietnam. The developed protocol was helpful for the preimplantation genetic diagnosis process to help families with the monogenic disease of AIS but wish to have healthy children.

Clinical Features and Treatment Outcomes of COVID-19 Admissions in the Can Tho City Hospital of Tuberculosis and Respiratory Diseases, Vietnam: A Hospital-Based Observational Study.

BACKGROUND: Coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, is among the top global health crises. As confirmed by the Vietnam Ministry of Health on 25th January 2023, Vietnam had a cumulative total of more than 11.52 million COVID-19 patients, including 10.61 million recoveries and 43,186 deaths. OBJECTIVES: This study aimed to describe the clinical and subclinical characteristics, treatment progress, and outcomes of 310 cases of SARS-CoV-2 infection. METHODS: A total of 310 patients with medical records of SARS-CoV-2 were admitted to Can Tho City Hospital of Tuberculosis and Lung Diseases, Can Tho city, Vietnam, between July 2021 and December 2021. Demographic and clinical data, including laboratory examinations, of all the patients were collected and analyzed. RESULTS: The median duration of hospital stay was 16.4 ± 5.3 days. There were 243 (78.4%) patients with clinical symptoms of COVID-19 and 67 (21.6%) patients without clinical symptoms. The common symptoms included cough (71.6% of 310 patients), fever (35.4%), shortness of breath (22.6%), sore throat (21.4%), loss of smell/taste (15.6%), and diarrhea (14.4%). Regarding treatment outcomes, 92.3% of the patients were discharged from the hospital, 1.9% of the patients suffered a more severe illness and were transferred to a higher-level hospital, and 5.8% of the patients died. The RT-PCR results were negative in 55.2% of the patients, and 37.1% of the patients had positive RT-PCR results with Ct values of >30 on the discharge/transfer day. Multivariate logistic regression analyses showed that comorbidity and decreased blood pH were statistically significantly related to the treatment outcomes of the patients with COVID-19 (p < 0.05). CONCLUSIONS: This study provides useful information (i.e., the clinical characteristics and treatment outcomes) on the COVID-19 pandemic in Vietnam during its biggest outbreak; the information may be used for reference and for making improvements in the handling of future health crises.

Synthesis, structure and in vitro cytotoxicity testing of some 2-aroylbenzofuran-3-ols.

Five 2-aroyl-5-bromobenzo[b]furan-3-ol compounds (two of which are new) and four new 2-aroyl-5-iodobenzo[b]furan-3-ol compounds were synthesized starting from salicylic acid. The compounds were characterized by mass spectrometry and 1H NMR and 13C NMR spectroscopy. Single-crystal X-ray diffraction studies of four compounds, namely, (5-bromo-3-hydroxybenzofuran-2-yl)(4-fluorophenyl)methanone, C15H8BrFO3, (5-bromo-3-hydroxybenzofuran-2-yl)(4-chlorophenyl)methanone, C15H8BrClO3, (5-bromo-3-hydroxybenzofuran-2-yl)(4-bromophenyl)methanone, C15H8Br2O3, and (4-bromophenyl)(3-hydroxy-5-iodobenzofuran-2-yl)methanone, C15H8BrIO3, were also carried out. The compounds were tested for their in vitro cytotoxicity on the four human cancer cell lines KB, Hep-G2, Lu-1 and MCF7. Six compounds show good inhibiting abilities on Hep-G2 cells, with IC50 values of 1.39-8.03 µM.