Mitochondrial activator BGP-15 protects sperm quality against oxidative damage and improves embryo developmental competence.

Objective: To study the efficacy of mitochondrial activator BGP-15 to preserve sperm quality and competence against cellular damage.

Design: Spermatozoa from mice or humans were treated in vitro with BGP-15 and sperm quality markers assessed. Spermatozoa from young (8-12 weeks old) or reproductively old (>14 months old) mice were treated with BGP-15 for 1h and assessed for sperm quality and pre-implantation embryo development after in vitro fertilization (IVF).

WDR36 Regulates Trophectoderm Differentiation During Human Preimplantation Embryonic Development Through Glycolytic Metabolism.

Mammalian pre-implantation development is a complex process involving sophisticated regulatory dynamics. WD repeat domain 36 (WDR36) is known to play a critical role in mouse early embryonic development, but its regulatory function in human embryogenesis is still elusive due to limited access to human embryos. The human pluripotent stem cell-derived blastocyst-like structure, termed a blastoid, offers an alternative means to study human development in a dish.

[Preimplantation genetic testing for a Chinese pedigree affected with Primary carnitine deficiency].

Objective: To investigate the results of preimplantation genetic testing for monogenic diseases (PGT-M) in a Chinese pedigree affected with Primary carnitine deficiency (PCD).

Methods: A pedigree affected with PCD who visited Hainan Women and Children's Medical Center in April 2023 due to "SLC22A5 gene mutation found in offspring genetic testing and preparing for a second child" was selected as the study subject. Pathogenicity of the proband's variant sites was determined by referring to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG).

Craniofrontonasal syndrome in a patient with an inv(X)(p22.2q13.1), separating EFNB1 from its enhancer.

Craniofrontonasal syndrome (CFNS) is an X-linked developmental disorder caused by loss of function variants (LOFVs) in the ephrin B1 (EFNB1) gene located on Xq13.1. In CFNS, unlike in other X-linked disorders, females with heterozygous EFNB1 pathogenic variants (PVs) have a severe phenotype, whereas males carrying hemizygous EFNB1 PVs have a mild phenotype.

Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.

Purpose: Mucopolysaccharidosis type II (MPS II) is a rare X-linked lysosomal storage disorder caused by genetic alterations in the iduronate 2-sulfatase (IDS) gene. A wide range of variants has been reported for different countries and ethnic groups. We collected, analyzed and uniformly summarized all published IDS gene variants reported in literature up to June 2023, here providing the first worldwide review and classification.

Advanced KPI framework for IVF pregnancy prediction models in IVF protocols.

The utilization of neural networks in assisted reproductive technology is essential due to their ability to process complex and multidimensional data inherent in IVF procedures, offering opportunities for clinical outcome prediction, personalized treatment implementation, and overall advancement in fertility treatment. The aim of this study was to develop a novel approach to IVF laboratory data analysis, employing deep neural networks to predict the likelihood of clinical pregnancy occurrence within an individual treatment cycle, integrating both key performance indicators and clinical data. We conducted a retrospective analysis spanning 11 years, encompassing 8732 treatment cycles, to extract the most relevant features to our goal and train the model.

Hereditary Neuromuscular Disorders in Reproductive Medicine.

Neuromuscular disorders (NMDs) encompass a broad range of hereditary and acquired conditions that affect motor units, significantly impacting patients' quality of life and reproductive health. This narrative review aims to explore in detail the reproductive challenges associated with major hereditary NMDs, including Charcot-Marie-Tooth disease (CMT), dystrophinopathies, Myotonic Dystrophy (DM), Facioscapulohumeral Muscular Dystrophy (FSHD), Spinal Muscular Atrophy (SMA), Limb-Girdle Muscular Dystrophy (LGMD), and Amyotrophic Lateral Sclerosis (ALS). Specifically, it discusses the stages of diagnosis and genetic testing, recurrence risk estimation, options for preimplantation genetic testing (PGT) and prenatal diagnosis (PND), the reciprocal influence between pregnancy and disease, potential obstetric complications, and risks to the newborn.

Effect of Paternal Body Mass Index on Cumulative Live Birth Rates: Retrospective Analysis of 3048 Embryo Transfers in Couples Using Autologous Gametes.

Obesity is a multifactorial disease present worldwide and correlated with hormonal alterations that may cause a decrease in reproductive outcomes and seminal quality. However, the specific mechanisms involved are unknown. This led us to examine the relationship between paternal body mass index (BMI) and clinical reproductive outcomes by evaluating the cumulative live birth rates (CLBRs) per number of embryo transfers (ETs), embryos replaced (EmbRs), and oocytes used (OUs) in consecutive treatments until achieving the first newborn.

Autosomal Dominant Polycystic Kidney Disease.

Over 50% of people affected with autosomal dominant polycystic kidney disease (ADPKD) will develop kidney failure, making ADPKD the 4th most common cause of end-stage kidney disease. ADPKD is a systemic condition affecting the kidneys, liver, heart, vasculature, and other organ systems. A minority of patients may have severe complications such as massive hepatomegaly from a polycystic liver or rupture of an intracranial aneurysm.

A matter of choice? - patient decision-making and support in non-euploid embryo transfers.

Deciding whether to transfer a non-euploid embryo presents a challenge for both individuals and clinicians involved in assisted reproductive technologies (ART) with preimplantation genetic testing (PGT). The uncertainty surrounding clinical outcomes and long-term effects complicates this decision, and there is limited research on the factors that influence individuals' experiences during this decision-making process. An online survey was utilized to gather data on elements influencing the decision-making process.

Comparative study on pregnancy complications: PGT-A vs. IVF-ET with gender-specific outcomes.

The safety and clinical effectiveness of preimplantation genetic testing for aneuploidy (PGT-A) in improving pregnancy outcomes for sub-fertile patients remains controversial. Potential sex-based differences in the relationship between PGT-A and pregnancy complications have not been investigated, which could guide the appropriate clinical application of PGT-A. In this secondary analysis of data from a multicenter, randomized, controlled, non-inferiority trial (NCT03118141), 940 women who achieved singleton live birth during the trial were included to estimate the between-group differences in pregnancy complications following PGT-A versus conventional fertilization (IVF) vary with fetal sex.

Novel mutation in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II).

A rare type of autosomal recessive skeletal disorder, known as microcephalic osteodysplastic primordial dwarfism (MOPD) type II, causes a wide range of clinical abnormalities, including skeletal dysplasia, microcephaly, abnormal skin pigmentation, insulin resistance, typical facial features, and severe tooth deformities. Given the diverse manifestations of MOPD disorders and the overlapping clinical characteristics among primordial dwarfism (PD) subtypes, mutation analysis is crucial for accurate diagnosis and confirmation of MOPD II. In this study, whole-exome sequencing (WES) and GAP-PCR were employed to identify relevant genetic variants in three patients suspected of having MOPD.