Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants.

Purpose: Primary ovarian insufficiency (POI) is an important cause of female infertility, stemming from follicle dysfunction or premature oocyte depletion. Pathogenic variants in genes such as NOBOX, GDF9, BMP15, and FSHR have been linked to POI. NOBOX, a transcription factor expressed in oocytes and granulosa cells, plays a pivotal role in folliculogenesis.

Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population.

Focal facial dermal dysplasia (FFDD) type IV is a rare inherited facial defect caused by biallelic variants in CYP26C1. This study reports two novel Belgian FFDD type IV cases, both homozygous for a recurrent CYP26C1 frameshift variant, with a common 700 kb haplotype, indicating a founder effect.

Efficiency of aqueous oleosome extraction from capsicum seeds compared to classical oil extraction.

The extraction of oil from oilseeds in intact oleosomes is one of the suggested processes that could replace the extraction of oil by pressing and solvent extraction, being milder, environmentally less impactful and potentially more efficient in its use of resources. This study assesses the latter using an exergy assessment of oleosome extraction for food emulsions. The contribution of each part of the process to the overall impact was investigated.

PREIMPLANTATION GENETIC TESTING: Clinical experience of preimplantation genetic testing.

Thirty years of rapid technological advances in the field of genetic testing and assisted reproduction have reshaped the procedure of preimplantation genetic testing (PGT). The development of whole genome amplification and genome-wide testing tools together with the implementation of optimal hormonal stimulation protocols and more efficient cryopreservation methods have led to more accurate diagnoses and improved clinical outcomes. In addition, the shift towards embryo biopsy at day 5/6 has changed the timeline of a typical PGT clinical procedure.

Temporary hearing threshold shift in a harbor porpoise (Phocoena phocoena) after exposure to multiple airgun sounds.

In seismic surveys, reflected sounds from airguns are used under water to detect gas and oil below the sea floor. The airguns produce broadband high-amplitude impulsive sounds, which may cause temporary or permanent threshold shifts (TTS or PTS) in cetaceans. The magnitude of the threshold shifts and the hearing frequencies at which they occur depend on factors such as the received cumulative sound exposure level (SELcum), the number of exposures, and the frequency content of the sounds.