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Whole genome sequencing (WGS) has become a gold standard for diagnosing genomic variation. Peripheral blood is a common sample source for the extraction of nucleic acids for Next-Generation Sequencing (NGS) applications. Here, we present an integrated and fully automated device design that uses new concepts of fluid mechanics, heat-mass transfer, and thermodynamics of enzymatic reactions to extract nucleic acids from the blood and perform DNA library preparation from a pre-filled plate. We demonstrate that the presented device effectively extracts dsDNA with an average of 25.03 µg/mL and 25.91 µg/mL yield from citrate-stabilized human peripheral blood stored in Fresh (4 °C) and Frozen (-20 °C) conditions, respectively. Furthermore, our method automatically extracts nucleic acids and creates a high-quality sequence-ready DNA library from blood stabilized with citrate and EDTA for 8 samples simultaneously in a single run with a total operation time of ~ 7 h. Our results show the required coverage and depth of the genome, highlighting an essential application of this device in processing blood samples for genome sequencing., (© 2024. The Author(s).)

COVID-19 is an infectious disease that caused a global pandemic affecting people worldwide. As disease detection and vaccine rollout continue to progress, there is still a need for efficient diagnostic tools to satisfy continued testing needs. This preliminary study evaluated a novel SARS-CoV-2 diagnostic test called DirectDetect SARS-CoV-2 Direct Real-time reverse transcriptase polymerase chain reaction (RT-PCR) based on a limited sample size of 24 respiratory samples from 14 SARS-CoV-2-positive patients. The test is advantageous compared to others on the market since it does not require viral transport medium or viral RNA extraction prior to nucleic acid amplification and detection. This capability transforms the hours-long sample preparation time into a minutes-long procedure while also eliminating the need for many costly reagents which may be difficult to obtain during the surge in nucleic acid-based testing during the pandemic. The results show a positive agreement of 94.7, 100, and 94.7% between dry sample swabs, treated samples, and untreated samples tested using the DirectDetect SARS-CoV-2 Direct Real-time RT-PCR compared to tests used in a clinical laboratory, respectively. The findings indicate that DirectDetect can be used for multiple different sample types while reducing the number of reagents and time needed for diagnosis. Although this study shows promising results using the DirectDetect results, further validation of this test using a larger sample set is required to assess the true performance of this test., Competing Interests: The authors declare the following competing financial interest(s): AT is a paid scientific advisor/consultant and lecturer for PerkinElmer. RK and CGB received research funding from Gilead Sciences that supported sample collection, though the funding was not related to this research and the funder did not have any input on the research., (© 2022 The Authors. Published by American Chemical Society.)

Aim: To determine the most common risk factors of male infertility in Mongolian men attending an infertility clinic., Methods: A prospective, case-control study was conducted in which 430 men were enrolled. All the men had sought their first infertility evaluation between 1998-2002 in the State Research Center on Maternal Child Health, Ulaanbaatar, Mongolia. They were divided into two groups depending on the results of their semen analysis: 191 with abnormal semen and 239 with normal semen profile. Univariate and multivariate analyses were performed to determine any association between risk factors and semen abnormality., Results: Logistic regression analysis demonstrated that the testicular volume, a history of sexually transmitted infections (STI), epididymitis and testicular damage all have statistically significant associations with semen abnormality, when controlled for multiple risk factors. Adjusted odds ratios of 3.4 for mumps orchitis, 2.3 for other orchitis and 3.9 for testicular injury were found. Gonorrhoea, the most commonly reported STIs in this study, gave an adjusted odds ratio of 1.0 for having one or more sperm abnormality. An adjusted odds ratio for subjects with a history of other STIs was 2.7. However, as a predictor of azoospermia, STIs had very high odds ratio, being 5.6 in patients with gonorrhoea and 7.6 in patients with other STIs., Conclusion: A history of pathology involving testicular damage appeared to have the strongest impact on male infertility in Mongolia. STIs have less impact on semen quality except when complicated by orchitis, epididymitis and vasal obstruction.

Objective: To determine the clinical patterns and major causes of infertility in Mongolia, based on the clinical and laboratory findings of both partners, and to compare the findings with data from the published World Health Organization (WHO) multicenter study., Methods: Four hundred and thirty infertile couples who attended the Infertility Clinic of the State Research Center on Maternal Child Health in 1998-2002 were included in the study. The couples had not had a viable birth after at least 1 year of unprotected intercourse and agreed to be fully investigated according to the WHO protocol 'Standardized Investigation of the Infertile Couple'., Results: The mean duration of infertility of couples was 4.9 +/- 0.2 years. 43.7% of women had secondary infertility. In the females, the prevalence of past history of sexually transmitted infection (STI) and pelvic inflammatory disease were 33.5% and 25.1%, respectively. In the male partner, 44.2% reported a history of STI and 27.7% had previous testicular damage. 32.8% of women had a tubal factor. The most common causes of male infertility were obstructive azoospermia (8.4%), male accessory gland infection (6.7%) and acquired testicular damage (5.4%). In 45.8% of couples, infertility was due to a female factor and in 25.6% of cases, infertility was due to a male factor. 9.8% of couples had no demonstrable cause in either partner and 18.8% of couples had an infertility diagnosis in both partners., Conclusion: Patterns of female infertility did not differ significantly from those in the WHO study. Male infertility had a unique pattern, as there was a high prevalence of obstructive azoospermia and previous testicular damage.