Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths.

Purpose: Severe combined immunodeficiency (SCID) is a set of rare monogenic inherited diseases that together represent the most severe form of the primary immunodeficiency disease phenotype. Preimplantation genetic testing for monogenic defects (PGT-M) is an effective reproductive technology strategy to prevent disease-causing gene mutations from being transmitted to offspring. The aim of this study was to report the use of PGT-M strategy based on karyomapping in four families to avoid the birth of SCID children.

Microbial perspective of multidisciplinary collaborative weight management approach: may serve as a key target for weight loss.

Changes in the gut microbiota are associated with obesity and may influence weight loss. We are currently implementing a sustained multidisciplinary collaborative weight management (MCWM) approach to weight loss. We report significant improvements in participant health status after 6 months, along with alterations in the structure, interactions, and metabolic functions of the microbiota.

Haplotyping-based preimplantation genetic testing for inherited cardiovascular disease: a multidisciplinary approach.

Given the high morbidity, mortality, and hereditary risk of cardiovascular diseases (CVDs), their prevention and control have garnered widespread attention and remain central to clinical research. This study aims to assess the feasibility and necessity of haplotyping-based preimplantation genetic testing for the prevention of inherited CVD. A total of 15 preimplantation genetic testing for monogenic defect (PGT-M) cycles were performed in 12 CVD families from January 2016 to July 2022.

Exploring key embryonic developmental morphokinetic parameters that affect clinical outcomes during the PGT cycle using time-lapse monitoring systems.

Research Question: Is it possible to predict blastocyst quality, embryo chromosomal ploidy, and clinical pregnancy outcome after single embryo transfer from embryo developmental morphokinetic parameters?

Design: The morphokinetic parameters of 1011 blastocysts from 227 patients undergoing preimplantation genetic testing were examined. Correlations between the morphokinetic parameters and the quality of blastocysts, chromosomal ploidy, and clinical pregnancy outcomes following the transfer of single blastocysts were retrospectively analyzed.

Results: The morphokinetic parameters of embryos in the high-quality blastocyst group were significantly shorter than those in the low-quality blastocyst group (p < 0.

Evolutionary Dynamics and Pathogenicity Analysis of Feline Panleukopenia Virus in Xinjiang, China.

Feline panleukopenia virus (FPV), a globally pervasive and highly pathogenic pathogen, has garnered significant attention recently due to the cross-species transmission of its variants. Despite the vast body of research conducted on FPV, studies exploring its evolutionary history, dynamics, and the factors driving its evolution remain scarce. The pathogenicity of strains with the prevalent mutations (A91S and I101T) in the VP2 protein has also not been fully elucidated.

Contribution of cervical incompetence to occurrence of second trimester abortion in patients with polycystic ovary syndrome during the frozen embryo transfer cycle.

Background: Second-trimester abortion is a critical issue in infertile women with polycystic ovary syndrome (PCOS) treated with assisted reproductive technology (ART), cervical incompetence (CI) may play a role. Although previous studies have revealed an association between PCOS and CI in women undergoing ART with fresh embryo transfer, the associated risk factors in frozen embryo transfer cycles are still unknown. The primary objective of this study is to examine the impact of CI on the occurrence of second-trimester abortion in women with PCOS undergoing frozen embryo transfer.

Possible involvement of a MEG3-miR-21-SPRY1-NF-κB feedback loop in spermatogenic cells proliferation, autophagy, and apoptosis.

Non-obstructive azoospermia (NOA) is the most incurable form of male infertility with a complex etiology. Long non-cording RNAs (lncRNAs) were associated with regulating spermatogenesis. Herein, differentially expressed lncRNAs between NOA and control male were screened by RNA-seq analysis.

Relationship between fresh single embryo morphology scores and serum HCG values at 14 days and 14-18-day doubling values.

Research Question: What is the effect of embryo morphology score on 14-day β-HCG levels and 14-18-day β-HCG doubling values, and do they have differences in day-3 embryo or day-5 blastocyst transfers?

Design: Retrospective analysis of 4434 fresh cycles of single embryo transfers (SET) with β-HCG ≥15 mIU/ml on day 14 after transfer via IVF and ICSI. The correlation between embryo morphology score and 14-day β-HCG was examined. Doubling of 14-18 day β-HCG was analysed in 2628 cycles to determine correlations with embryo morphology score.

A metabolome-wide Mendelian randomization study prioritizes causal circulating metabolites for reproductive disorders including primary ovarian insufficiency, polycystic ovary syndrome, and abnormal spermatozoa.

Background: Accumulating studies have highlighted the significant role of circulating metabolomics in the etiology of reproductive system disorders. However, the causal effects between genetically determined metabolites (GDMs) and reproductive diseases, including primary ovarian insufficiency (POI), polycystic ovary syndrome (PCOS), and abnormal spermatozoa (AS), still await thorough clarification.

Methods: With the currently most comprehensive genome-wide association studies (GWAS) data of metabolomics, systematic two-sample Mendelian randomization (MR) analyses were conducted to disclose causal associations between 1,091 blood metabolites and 309 metabolite ratios with reproductive disorders.

Single-cell RNA sequencing of human oocytes reveals a differential transcriptomic profile associated with agar-like zona pellucida.

Background: Agar-like zona pellucida (ZP) is the most common type of abnormal ZP, and is one of the causes of low fertility or infertility. However, the molecular mechanism of agar-like ZP is unclear. Single-cell RNA-sequencing (scRNA-seq) analysis was used to assess the cellular and molecular landscape of oocytes with agar-like ZP.

YTHDF2 regulates MSS51 expression contributing to mitochondria dysfunction of granulosa cells in polycystic ovarian syndrome patients.

Research Question: Granulosa cells (GCs) dysfunction plays a crucial role in the pathogenesis of polycystic ovary syndrome (PCOS). It is reported that YTH domain-containing family protein 2 (YTHDF2) is upregulated in mural GCs of PCOS patients. What effect does the differential expression of YTHDF2 have in PCOS patients?

Design: Mural GCs and cumulus GCs from 15 patients with PCOS and 15 ovulatory controls and 4 cases of pathological sections in each group were collected.

Effects of total gonadotropin dose on embryo quality and clinical outcomes with AMH stratification in IVF cycles: a retrospective analysis of 12,588 patients.

Background: Recent studies about the effect of gonadotropin (Gn) dose on the clinical outcomes of IVF are still controversial, and no studies have analyzed the relationship between Gn dose and embryo quality. Since AMH is a strong predictor of oocyte quality, we aim to evaluate the relationship between total Gn dose and embryo quality and clinical outcomes at different AMH levels in IVF cycles.

Methods: A total of 12,588 patients were enrolled in the retrospective study.

Resolution enhancement via guided filtering for spatial-frequency multiplexing single-shot high-speed imaging.

The frequency recognition algorithm for multiple exposures (FRAME) is a progressive single-shot high-speed videography technique that employs the spatial-frequency multiplexing concept to provide high temporal and spatial resolution. However, the inherent crosstalk from the zero-frequency component to the carrier-frequency component leads to resolution degradation and artifacts. To improve recovered frames' quality, we propose a FRAME reconstruction method using guided filters for a removal of the zero-frequency component, which can minimize the artifacts while enhance spatial resolution.

Effective protection: the embryonic development and clinical outcomes of emergency vitrification of 1246 oocytes and Day 0-Day 5 embryos in a natural disaster.

Study Question: Can emergency vitrification protect embryos and oocytes during natural disasters or other events that prevent normal practice to achieve satisfactory embryonic development and clinical outcomes at a later time?

Summary Answer: Emergency vitrification of oocytes and Day 0-Day 5 (D0-D5) embryos during disasters is a safe and effective protective measure.

What Is Known Already: When some destructive events such as floods, earthquakes, tsunamis, and other accidents occur, emergency vitrification in embryo laboratories to protect human embryos, oocytes, and sperm is one of the important measures of an IVF emergency plan. However, there are few detailed reports on emergency vitrification in a state of disaster, especially about oocytes and D0 zygotes.

The Molecular Basis of Catalysis by SDR Family Members Ketoacyl-ACP Reductase FabG and Enoyl-ACP Reductase FabI in Type-II Fatty Acid Biosynthesis.

The short-chain dehydrogenase/reductase (SDR) superfamily members acyl-ACP reductases FabG and FabI are indispensable core enzymatic modules and catalytic orientation controllers in type-II fatty acid biosynthesis. Herein, we report their distinct substrate allosteric recognition and enantioselective reduction mechanisms. FabG achieves allosteric regulation of ACP and NADPH through ACP binding across two adjacent FabG monomers, while FabI follows an irreversible compulsory order of substrate binding in that NADH binding must precede that of ACP on a discrete FabI monomer.

The preimplantation genetic testing for monogenic disorders strategy for blocking the transmission of hereditary cancers through haplotype linkage analysis by karyomapping.

Purpose: Providing feasible preimplantation genetic testing strategies for monogenic disorders (PGT-M) for prevention and control of genetic cancers.

Methods: Inclusion of families with a specific pathogenic mutation or a clear family history of genetic cancers. Identification of the distribution of hereditary cancer-related mutations in families through genetic testing.

Aesthetic evaluation of nasolabial reconstruction using abbe flap in bilateral cleft lip patients with secondary deformities.

Background: The Abbe flap is a common technique frequently utilized in secondary surgery for bilateral cleft lip deformities, but objective indications for the Abbe flap remain unclear, and postoperative aesthetic evaluations are limited.

Methods: The study group consisted of 92 bilateral cleft lip patients with secondary deformities aged 7-39 years, and the control group consisted of 33 people aged 19-35 years. Thirteen objective nasolabial aesthetic parameters were selected to evaluate patients' nasolabial aesthetics.

Adverse maternal and neonatal outcomes of preimplantation genetic testing with trophectoderm biopsy: a retrospective cohort study of 3373 intracytoplasmic sperm injection single frozen-thawed blastocyst transfer cycles.

Purpose: To investigate whether trophectoderm biopsy increases the risk of adverse maternal and neonatal outcomes in intracytoplasmic sperm injection (ICSI) single frozen-thawed blastocyst transfer cycles.

Methods: This respective cohort study enrolled 3373 ICSI single frozen-thawed blastocyst transfer cycles with and without trophectoderm biopsy. Statistical methods including univariate logistic regression analysis, multivariate logistic regression analysis, and stratified analyses were performed to explore the impact of trophectoderm biopsy on adverse maternal and neonatal outcomes.

Redox switching mechanism of the adenosine 5'-phosphosulfate kinase domain (APSK2) of human PAPS synthase 2.

Adenosine 5'-phosphosulfate kinase (APSK) catalyzes the rate-limiting biosynthetic step of the universal sulfuryl donor 3'-phosphoadenosine-5'-phosphosulfate (PAPS). In higher eukaryotes, the APSK and ATP sulfurylase (ATPS) domains are fused in a single chain. Humans have two bifunctional PAPS synthetase isoforms: PAPSS1 with the APSK1 domain and PAPSS2 containing the APSK2 domain.

The diagnostic value of circulating abnormal cells in early lung cancer.

Lung cancer is the leading cause of cancer-related deaths globally. Early detection of lung cancer can lead to more effective treatment and improved survival. Circulatory abnormal cells (CACs) with specific chromosomal variation may be used to diagnose lung cancer and to differentiate benign from malignant nodules.