Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene.

Objective: To report a case of a fetus with multiple congenital anomalies and suspected Barth syndrome, highlighting potential phenotypic expansion of the syndrome.

Methods: A 32-year-old G4P2011 patient was referred at 18w5d gestation for suspected fetal encephalocele. Serial imaging, including ultrasound and MRI, was performed to evaluate fetal anomalies.

Loss of neuropeptide signalling alters temporal expression of mouse suprachiasmatic neuronal state and excitability.

Individual neurons of the hypothalamic suprachiasmatic nuclei (SCN) contain an intracellular molecular clock that drives these neurons to exhibit day-night variation in excitability. The neuropeptide vasoactive intestinal polypeptide (VIP) and its cognate receptor, VPAC, are synthesized by SCN neurons and this intercellular VIP-VPAC receptor signal facilitates coordination of SCN neuronal activity and timekeeping. How the loss of VPAC receptor signalling affects the electrophysiological properties and states of SCN neurons as well as their responses to excitatory inputs is unclear.

Efficacy of Gonadotropin Treatment for Induction of Spermatogenesis in Men With Pathologic Gonadotropin Deficiency: A Meta-Analysis.

Introduction: Hypogonadotropic hypogonadism (HH) is a treatable cause of nonobstructive azoospermic male infertility. Gonadotropin treatment can successfully induce spermatogenesis in most patients, although comprehensive quantitative summary data on spermatogenic outcomes like those required to induce pregnancy is lacking in the literature.

Materials And Methods: Systematic review and meta-analysis of outcomes related to male reproductive function following gonadotropin treatment.

Natural history of autologous sperm cryostorage.

Study Question: What is the natural history of elective autologous sperm cryostorage prior to gonadotoxic treatment?

Summary Answer: We estimate large sample median times to transfer for use, to the man's death or to discard of sperm, and their determinants, as the key operational outcomes of sperm cryostorage.

What Is Known Already: No large sample studies of the natural history of sperm cryostorage prior to gonadotoxic treatment are reported.

Study Design, Size, Duration: This observational single-centre study covered 45 years of outcomes with a survival analysis for sperm cryostorage prior to scheduled gonadotoxic treatment, and its determinants.