A novel homozygous frameshift mutation in MCM8 causes primary gonadal dysgenesis in both genders.

Purpose: We aimed to demonstrate the genetic factors of primary gonadal dysgenesis in a consanguineous family characterized by underdeveloped testes and non-obstructive azoospermia (NOA) in a male and primary amenorrhoea and primary ovarian insufficiency (POI) in a female.

Methods: DNA was extracted from the male proband with infertility from the consanguineous family for whole-exome sequencing and bioinformatics analysis to screen for potential pathogenic genes and mutations. Sanger sequencing was used for further validation of his family pedigree.

Melatonin protects aged oocytes from depalmitoylation-mediated quality reduction by promoting PPT1 degradation and antioxidation.

Oocyte aging is closely related to a decline in female fertility, accompanied by increased reactive oxygen species levels and changes in protein posttranslational modifications. However, the role of protein palmitoylation in oocyte aging has not been investigated. In the present study, a new association between redox and palmitoylation in aging oocytes was found.

Multi-omics analysis and experimental verification reveal testicular fatty acid metabolism disorder in non-obstructive azoospermia.

Increasing evidence implicates disruptions in testicular fatty acid metabolism as a contributing factor in non-obstructive azoospermia (NOA), a severe form of male infertility. However, the precise mechanisms linking fatty acid metabolism to NOA pathogenesis have not yet been fully elucidated. Multi-omics analyses, including microarray analysis, single-cell RNA sequencing (scRNA-seq), and metabolomics, were utilized to investigate disruptions in fatty acid metabolism associated with NOA using data from public databases.

Development and evaluation of a microfluidic human testicular tissue chip: a novel platform for reproductive biology and pharmacology studies.

Organ-on-a-chip culture systems using human organ tissues provide invaluable preclinical insights into systemic functions . This study aimed to develop a novel human testicular tissue chip within a microfluidic device employing computer-aided design software and photolithography technology. Polydimethylsiloxane was used as the primary material to ensure marked gas permeability and no biotoxicity, enabling effective mimicry of the testicular microenvironment.

Scale effects on suspended sediment and their response to extreme precipitation in karst basins.

Extreme precipitation is a crucial trigger for soil erosion events in karst regions. However, the existence of a scale effect in suspended sediment characteristics of karst basins and which extreme precipitation variables control this effect remain unclear. To investigate this, we analyzed the scale effect on suspended sediment characteristics using monthly hydrological data from five karst basins of varying scales, consistently monitored from 2012 to 2019.

[Omega-3 polyunsaturated fatty acids for the treatment of oligoasthenozoospermia: Progress in research].

Oligoasthenozoospermia (OAS) is one of the most common types of male infertility, which, however, still lacks effective treatment. An increasing number of studies have shown the potential therapeutic value of omega-3 polyunsaturated fatty acid (ω-3 PUFA) in the treatment of OAS. This article presents an overview of the studies on the effects of ω-3 PUFA on fatty acid composition and metabolism, inflammatory response, and oxidative stress in OAS, hoping to provide some new ideas for the treatment of the disease.

A Novel Compound Heterozygous Mutation in TDRD9 Causes Oligozoospermia.

Oligozoospermia is an important cause of male infertility for which treatment options are limited. Spermatogenesis is complex, and the causes of oligozoospermia remain largely unknown. Because genetic mutations are important factors of oligozoospermia pathogenesis, our study aimed to explore the genetic causes of oligozoospermia.

Subsequent maternal sleep deprivation aggravates cognitive impairment by modulating hippocampal neuroinflammatory responses and synaptic function in maternal isoflurane-exposed offspring mice.

Introduction: Pregnant women may need to undergo non-obstetric surgery under general anesthesia owing to medical needs, and pregnant women frequently experience sleep disturbances during late gestation. Preclinical studies demonstrated that maternal isoflurane exposure (MISO) or maternal sleep deprivation (MSD) contributed to cognitive impairments in offspring. Research studies in mice have revealed that SD can aggravate isoflurane-induced cognitive deficits.

Octanoic acid mitigates busulfan-induced blood-testis barrier damage by alleviating oxidative stress and autophagy.

Background: The management of male infertility continues to encounter an array of challenges and constraints, necessitating an in-depth exploration of novel therapeutic targets to enhance its efficacy. As an eight-carbon medium-chain fatty acid, octanoic acid (OCA) shows promise for improving health, yet its impact on spermatogenesis remains inadequately researched.

Methods: Mass spectrometry was performed to determine the fatty acid content and screen for a pivotal lipid component in the serum of patients with severe spermatogenesis disorders.

Interpreting and modelling the daily extreme sediment events in karst mountain watersheds.

Increasingly frequent extreme rainfall as a result of climate change is strongly damaging the global soil and water environment. However, few studies have focused on daily extreme sediment events (DESE) in heterogeneous karst watersheds based on long-term in-situ observations. This study quantitatively assessed the time effect of DESE on rainfall response, decoupled the impact of environmental factors on DESE by using structural equation modelling, and finally explored the modelling scheme of DESE based on the hybrid model.

Ecology of End-of-life Medical Care for Advanced Cancer Patients in China.

Aims: Cancer is a leading cause of death worldwide. Approximately 30% of global cancer-related deaths occur in mainland China. However, there is a paucity of information regarding the end-of-life care-seeking behavior of patients with advanced cancer in China.

[A study on the application of cross-frequency coupling characteristics of neural oscillation in the diagnosis of mild cognitive impairment].

In order to fully explore the neural oscillatory coupling characteristics of patients with mild cognitive impairment (MCI), this paper analyzed and compared the strength of the coupling characteristics for 28 MCI patients and 21 normal subjects under six different-frequency combinations. The results showed that the difference in the global phase synchronization index of cross-frequency coupling under δ-θ rhythm combination was statistically significant in the MCI group compared with the normal control group ( = 0.025, = 0.

Controllable Si-C Bond Formation from Trihydrosilanes En Route to Synthesis of 1,4-Azasilinanes with Diverse Silyl Functionalities.

A B(CF)-catalyzed controllable inter/intra-/intermolecular Si-C bond formation process has been developed from trihydrosilane and dienamide with alkenes, anilines, or aryl iodides. A variety of 1,4-azasilinanes have been generated with diverse -cyclic heteroleptic disubstitutions on silicon, thereby expanding the range of silaazacyclic rings available for the discovery of silicon-containing drugs.

ZDHHC17 participates in the pathogenesis of polycystic ovary syndrome by affecting androgen conversion to estrogen in granulosa cells.

Polycystic ovary syndrome (PCOS) is a prevalent endocrine disorder affecting women of reproductive age and is a significant cause of female subfertility. Our previous research demonstrated that the abnormal palmitoylation of heat shock protein-90α (HSP90α) plays a role in the development of PCOS. However, the palmitoyl acyltransferases in HSP90α palmitoylation remain poorly understood.

Omega-3 polyunsaturated fatty acids and its metabolite 12-HEPE rescue busulfan disrupted spermatogenesis via target to GPR120.

Busulfan is an antineoplastic, which is always accompanied with the abnormal of spermatogonia self-renewal and differentiation. It has been demonstrated that the omega-3 polyunsaturated fatty acids (PUFAs) benefits mature spermatozoa. However, whether omega-3 can protect endogenous spermatogonia and the detailed mechanisms are still unclear.

Maternal RNA binding protein with multiple splicing 2 (RBPMS2) is involved in mouse blastocyst formation through the bone morphogenetic protein pathway.

Research Question: Is early embryo development in mice influenced by RNA binding protein with multiple splicing 2 (RBPMS2), a maternal factor that accumulates and is stored in the cytoplasm of mature oocytes?

Design: The expression patterns of RBPMS2 in mouse were analysed using quantitative real-time PCR (qRT PCR) and immunofluorescence staining. The effect of knockdown of RBPMS2 on embryo development was evaluated through a microinjection of specific morpholino or small interfering RNA. RNA sequencing was performed for mechanistic analysis.

Enhanced Fluorescence Characteristics of SrAlO: Eu, Dy Phosphor by Co-Doping Gd and Anti-Counterfeiting Application.

A series of long-afterglow luminescent materials (SrAlO: Eu (SAOE), SrAlO: Eu, Dy (SAOED) and SrAlO: Eu, Dy, Gd (SAOEDG)) was synthesized via the combustion method. Temperature and concentration control experiments were conducted on these materials to determine the optimal reaction temperature and ion doping concentration for each sample. The crystal structure and luminescent properties were analyzed via X-ray diffraction (XRD), photoluminescence (PL), and afterglow attenuation curves.

Effects of gut microbiota on omega-3-mediated ovary and metabolic benefits in polycystic ovary syndrome mice.

Background: Polycystic ovary syndrome (PCOS) is a common reproductive endocrine disorder that frequently exhibits low-grade inflammation, pro-oxidant activity, and gut dysbiosis. PCOS has become one of the leading causes of female infertility worldwide. Recently, omega-3 polyunsaturated fatty acids (PUFAs) have been proven to benefit metabolic disorders in PCOS patients.

[Research on mild cognitive impairment diagnosis based on Bayesian optimized long-short-term neural network model].

The recurrent neural network architecture improves the processing ability of time-series data. However, issues such as exploding gradients and poor feature extraction limit its application in the automatic diagnosis of mild cognitive impairment (MCI). This paper proposed a research approach for building an MCI diagnostic model using a Bayesian-optimized bidirectional long short-term memory network (BO-BiLSTM) to address this problem.

Age-related elevation of O-GlcNAc causes meiotic arrest in male mice.

In recent years, the postponement of childbearing has become a critical social issue. Male fertility is negatively associated with age because of testis aging. Spermatogenesis is impaired with age, but the molecular mechanism remains unknown.

β-FeOOH/TiO/cellulose nanocomposite aerogel as a novel heterogeneous photocatalyst for highly efficient photo-Fenton degradation.

The photo-Fenton reaction provides an effective strategy for the removal of organic pollution in water environments. However, it remains a great challenge to develop photo-Fenton catalysts with high photocatalytic activity, low catalyst losses and excellent recyclability. In this work, a β-FeOOH/TiO/cellulose nanocomposite aerogel was fabricated as an efficient and convenient heterogeneous catalyst in the photo-Fenton system synthesis of TiO and β-FeOOH NPs on a cellulose-based aerogel.

Divergent Synthesis of Highly Substituted Tetrahydroquinolines and Cyclopentenes via Lewis Base Catalyzed Switchable [4 + 2] and [3 + 2] Annulations of MBH-Carbonates with Activated Olefins.

A highly selective and divergent synthesis which enabled access to various complex compounds is highly attractive in organic synthesis and medicinal chemistry. Herein, we developed an effective method for divergent synthesis of highly substituted tetrahydroquinolines via Lewis base catalyzed switchable annulations of Morita-Baylis-Hillman carbonates with activated olefins. The reaction displayed switchable [4 + 2] or [3 + 2] annulations via catalyst or substrate control, providing a diverse range of architectures which contained highly substituted tetrahydroquinolines or cyclopentenes with three contiguous stereocenters bearing a quaternary carbon center in high yields with excellent diastereoselectivities and regioselectivities.

The Role of Contextual Factors in Shaping Urban Older Adults' Intention of Institutional Care in China: A Mixed-Methods Study.

Background: This mixed-methods study explores older people's intention of institutional care and its contributing contextual factors, and the meaning given to their intention by older adults in the transitioning Chinese society.

Methods: Guided by the extended Anderson model and frameworks of the ecological theory of aging, survey data collected from 1937 Chinese older adults were used. Transcripts from six focus group interviews were analyzed to incorporate the voices of the participants.