Uncovering the inherent link between pseudo-graphite structure and closed-pore formation in hard carbon.

Elucidating the formation mechanism of closed pores is critical for interpreting the sodium storage mechanism and developing high-performance hard carbon anodes for sodium-ion batteries. Although numerous strategies for fabricating closed pores have been developed, the underlying evolutionary principles remain poorly understood. This work identified the inherent relationship between pseudo-graphite structures and closed pores through regulating pseudo-graphite structures in the precursor and analyzing their structural evolution during high-temperature carbonization.

Homozygous variant in JARID2 causes female infertility characterized by compromised blastulation efficiency.

Background: Impaired embryonic developmental competence is a critical determinant of assisted reproductive technology (ART) failure, yet current genetic diagnostics primarily address complete early embryonic arrest, leaving partial developmental defects unexplained, such as compromised blastulation efficiency (CBE). Jumonji and AT-rich interaction domain containing 2 (JARID2), encoding a chromatin-modifying factor essential for histone methylation regulation, emerges as a novel candidate in this context.

Results: We identified a homozygous JARID2 missense variant (c.

Characterization of novel and recurrent variants in childhood-onset amyotrophic lateral sclerosis: Insights into sphingolipid dysregulation.

Background: Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disorder that progressively affects motor neurons. Gain-of-function mutations in serine palmitoyltransferase (SPT) genes, notably and , have been linked to juvenile ALS. Here, we describe two childhood-onset ALS cases with distinct SPTLC2 mutations, providing new insights into sphingolipid dysregulation and its role in ALS pathogenesis.

Genetic rare disease prevention and control: Family-based screening and reproductive interventions in Changsha.

Rare diseases pose a significant public health challenge, particularly in underserved regions such as China, where genomic diagnostic services and post-diagnosis management remain limited. This study assessed the effectiveness of a rare disease screening program in Changsha, China, which enrolled 85,391 couples between January 2022 and June 2023. Among these participants were 1,414 suspected high-risk couples undergoing genetic testing, with 562 found to be at high risk of having a child with a rare disease, yielding a positive rate of 39.

A novel PADI6 splice-site variant induces non-canonical GC-AG splicing and embryonic arrest in humans.

Early embryonic arrest (EEA) represents the predominant cause of assisted reproductive technology (ART) failure. PADI6 was a disease-associated gene identified for EEA. To date, 42 likely causal PADI6 variants have been documented, predominantly located in exonic regions with clustering outside the N-terminal domain.

The analysis of HIV infection risk perception bias among men who have sex with men in Qingdao City, China.

Background: Misalignment between self-perceived and objectively measured risk may contribute to ongoing engagement in high-risk behaviors and impede the uptake of HIV prevention services. We aimed to investigate the concordance between self-perceived and objectively measured HIV risk and to identify factors associated with risk underestimation among MSM in Qingdao, China.

Methods: A cross-sectional study design was used, with snowball sampling to recruit MSM from April 2023 to July 2024.

Biallelic variants in DLGAP5 cause spindle assembly defects and human early embryonic arrest.

Study Question: What effects do DLGAP5 defects have on human early embryo development?

Summary Answer: DLGAP5 deficiency disrupts normal spindle assembly through its interaction with TACC3, leading to female infertility characterized by recurrent early embryonic arrest (REEA).

What Is Known Already: REEA is a significant contributor to failures in assisted reproductive technology. While genetic factors play a crucial role, known gene variants account for only a small proportion of affected individuals, leaving many underlying genetic factors yet to be elucidated.

Quantitative Phosphoproteomic Analysis of Testes from -Deficient Mice Highlights the Significance of Calmodulin Signaling in Spermiogenesis.

Calmodulin (CaM) plays a crucial role in sperm function. Studies have reported that proteins containing the IQ motif interact with CaM, subsequently engaging with downstream target proteins known as calmodulin-binding proteins (CaMBPs). However, no relevant reports have been published detailing which CaMBPs exist and the mechanisms by which they are regulated.

Efficacy of midazolam in the Treatment of Acute Convulsions in Children and Its Effects on Convulsive Brain Tissue Injury.

This study focused on addressing the efficacy of midazolam in the treatment of acute convulsions in children and its effects on convulsive brain tissue injury. A total of 124 children with acute convulsions were separated into the control group and the observation group according to the random number table method. Children in the control group received intravenous injection therapy with diazepam (0.

UTILIZING A CAPTURE-RECAPTURE STRATEGY TO ACCELERATE INFECTIOUS DISEASE SURVEILLANCE.

Monitoring key elements of disease dynamics (e.g., prevalence, case counts) is of great importance in infectious disease prevention and control, as emphasized during the COVID-19 pandemic.

Clinical and perinatal outcomes of fully hatched versus not fully hatched blastocysts.

Objective: To compare the clinical and perinatal outcomes following the transfer of fully hatched (FH) and not fully hatched (NFH) blastocysts in assisted reproductive technology.

Methods: This study enrolled women undergoing their first oocyte retrieval cycle with a freeze-all strategy, provided that they had at least one transferrable embryo. Patients were classified into preimplantation genetic testing for aneuploidy (PGT-A) cycles and non-PGT cycles, including thawed blastocysts (thawed-blast) and blastocysts cultured from thawed day 3 embryos (blast-thawed-d3).

Preimplantation genetic testing for facioscapulohumeral dystrophy caused by contractions of 4q35 D4Z4 repeats.

Research Question: Preimplantation genetic testing for monogenic diseases (PGT-M) is based on mutation testing combined with linkage analysis; so, how should PGT-M for patients with facioscapulohumeral dystrophy type 1 (FSHD1) be conducted when direct mutation testing is unavailable and specific linked markers are lacking?

Design: Patients with a definite FSHD1 diagnosis who intended to prevent the transmission of the condition to their children were recruited in the Reproductive and Genetic Hospital of CITIC-Xiangya, China between May 2021 and December 2023. Familial genetic risk was evaluated using Bionano, 4q haplotyping and whole-exome sequencing. Linkage markers near the causative 4q35 D4Z4 repeats were identified using targeted sequencing and MicroSeq.

Mesenchymal stem cell transplantation alleviated TBI-induced lung injury by inhibiting PAD4-dependent NET formation.

Introduction: Traumatic brain injury (TBI) affects millions of people worldwide and often results in significant extracranial complications, particularly acute respiratory distress syndrome (ARDS). The mechanisms underlying TBI-induced lung damage remain poorly understood, and current treatment options are limited.

Objectives: This study aimed to investigate the therapeutic potential and mechanisms of human umbilical cord-derived mesenchymal stem cells (hUC-MSCs) transplantation for alleviating TBI-induced lung injury and improving neurological function.

Prior COVID-19 infection increases degenerated oocytes but does not affect IVF outcomes: a prospective cohort study.

Background: The global health crisis of coronavirus disease 2019 (COVID-19) continues to impact people of all age groups worldwide. Recent studies increasingly support that COVID-19 infection may affect reproductive function, causing subfertility and infertility. It is a prospective observational cohort study conducted in the Reproductive and Genetic Hospital of CITIC-Xiangya.

GMNN mutations cause female infertility characterized by preimplantation embryo arrest through regulating DNA re-replication.

Preimplantation embryo arrest is a common cause of female infertility and recurrent failure of assisted reproductive technology. However, its genetic basis is largely unrevealed. Geminin, encoded by the GMNN gene, plays an important role in preventing DNA re-replication by inhibiting CDT1.

Markovnikov Protoborylation of Unactivated Terminal Alkenes via Copper-Guanidine Catalysis.

Herein copper-catalyzed Markovnikov protoborylation of unactivated terminal alkenes was achieved through the employment of a bulky σ-donating guanidine ligand. The reaction demonstrated good tolerance to diverse functional groups and remarkable selectivity for branched borylation products (86:14-97:3) under ambient conditions, which enabled the synthesis of secondary alkyl boronates in grams with further valuable derivatizations. Mechanistic studies suggested the boryl insertion to C═C bonds via Cu-guanidine complex and ruled out the possibility of a diboration-protodeboronation process.

Identification of nonfunctional CABS1 causing fertilization failure and male infertility in humans: a case report.

Purpose: This study aimed to identify new genes associated with total fertilization failure (TFF) by intracytoplasmic sperm injection (ICSI).

Methods: Whole-exome sequencing (WES) was performed on a patient presenting with TFF by ICSI. To assess the spermatozoa's morphology and ultrastructure, hematoxylin and eosin (H&E) staining and transmission electron microscopy (TEM) were employed.

Pharmacodynamic Effect of Different Dosage Regimes of Oseltamivir in Severe Influenza Patients Requiring Mechanical Ventilation: A Multicentre Randomised Controlled Trial.

Background And Objectives: This randomised controlled trial evaluated whether higher doses of oseltamivir would improve virological and clinical outcomes in severe influenza patients requiring invasive mechanical ventilation.

Methods: Forty intubated adult patients with severe influenza A or B from four intensive care units in Hong Kong were enrolled and randomised to receive either a double dose (300 mg/day) or a triple dose (450 mg/day) of oseltamivir for 10 days. Baseline data were collected, and outcomes were assessed daily using SOFA and Murray scores.

A Discrete Fourier Transform-Based Signal Processing Method for an Eddy Current Detection Sensor.

This paper presents a discrete Fourier transform (DFT)-based signal processing framework for eddy current non-destructive testing (NDT), aiming to enhance signal quality for precise defect characterization in critical nuclear components. By enforcing strict periodicity matching between sampling points and signal frequencies, the proposed approach mitigates DFT spectrum leakage, validated via phase linearity analysis with errors of ≤0.07° across the 20 Hz-1 MHz frequency range.

Maternal transcription factor OTX2 directly induces SETD1A and promotes embryonic genome activation in human pre-implantation embryos.

Early embryonic development is controlled by maternal factors originating from mature oocytes. The zygotic genome is activated from a transcriptionally quiescent state through a process called embryonic genome activation (EGA), which involves the depletion and clearance of maternal factors. However, the mechanism by which maternal factors regulate EGA and embryonic development, particularly in humans, remains elusive.

An interpretable artificial intelligence approach to differentiate between blastocysts with similar or same morphological grades.

Study Question: Can a quantitative method be developed to differentiate between blastocysts with similar or same inner cell mass (ICM) and trophectoderm (TE) grades, while also reflecting their potential for live birth?

Summary Answer: We developed BlastScoringNet, an interpretable deep-learning model that quantifies blastocyst ICM and TE morphology with continuous scores, enabling finer differentiation between blastocysts with similar or same grades, with higher scores significantly correlating with higher live birth rates.

What Is Known Already: While the Gardner grading system is widely used by embryologists worldwide, blastocysts having similar or same ICM and TE grades cause challenges for embryologists in decision-making. Furthermore, human assessment is subjective and inconsistent in predicting which blastocysts have higher potential to result in live birth.

Novel mutations in ZMYND15 are associated with male infertility with oligozoospermia/azoospermia.

Purpose: This study aimed to identify the genetic causes of male infertility associated with oligozoospermia/azoospermia in two unrelated Chinese families.

Methods: Whole-exome sequencing (WES) and Sanger sequencing were performed on peripheral blood samples from three infertile individuals with reduced sperm counts. Semen analysis data were collected, and sperm morphology was evaluated using hematoxylin and eosin staining, along with transmission electron microscopy.

Women with FSHR-inactivating mutations causing resistant ovarian syndrome benefit from oocyte in-vitro maturation.

Research Question: Is in-vitro maturation (IVM) of oocytes effective for treating women with resistant ovarian syndrome (ROS) carrying biallelic FSHR-inactivating mutations?

Design: Three patients with ROS were recruited for this study. Candidate pathogenic mutations were identified using whole-exome sequencing (WES). A cAMP production assay was performed to evaluate the effects of these mutations.

COVID-19 vaccination and pregnancy-induced hypertension risk in women undergoing assisted reproduction.

Study Question: Does COVID-19 vaccination affect the risk of pregnancy-induced hypertension (PIH) in women undergoing ARTs, and does this risk differ based on vaccine type (inactivated vs recombinant) and timing relative to embryo transfer?

Summary Answer: Women who received inactivated COVID-19 vaccines before undergoing ART had a significantly increased risk of developing PIH, particularly when vaccinated with two or more doses or when embryo transfer occurred within 1 month of vaccination.

What Is Known Already: COVID-19 vaccination during pregnancy reduces the risk of severe COVID-19 illness with no significant safety concerns for the mother or fetus. PIH is a common complication in ART pregnancies, particularly in older women and those with higher BMI, but the effects of different COVID-19 vaccine types on PIH risk in ART pregnancies remain unclear.

Prevalence of HIV/syphilis co-infection among men who have sex with men in China: a systematic review and meta-analysis.

Background: Men who have sex with men (MSM) are key populations for HIV and syphilis infection, and co-infection with both diseases significantly increases health risks. However, the co-infection of HIV/syphilis among this population in China has not been systematically evaluated. We aimed to conduct a meta-analysis to ascertain the prevalence of HIV/syphilis co-infection among MSM in China.