Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.

Voltage-gated sodium channels (VGSCs) are responsible for the initiation and propagation of action potentials in the brain and muscle. Pathogenic variants in genes encoding VGSCs have been associated with severe disorders including epileptic encephalopathies and congenital myopathies. In this study, we identified pathogenic variants in genes encoding the α subunit of VGSCs in the fetuses of two unrelated families with the use of trio-based whole exome sequencing, as part of a larger cohort study.

A voluminous twisted paraovarian cyst in a 74-year-old patient: case report and review of the literature.

Although paraovarian cysts rarely cause symptoms, they may be complicated due to massive size, torsion or internal haemorrhage from rupture. Moreover, benign or malignant neoplasms may occasionally develop in paraovarian cysts. The risks from voluminous ovarian or paraovarian cysts are due to severe cardiovascular, pulmonary, and circulatory problems including surgical and postoperative complications.

Intraperitoneal haemorrhage secondary to perforation of uterine fibroid after cystic degeneration. Unusual CT findings resembling malignant pelvic tumor: case report.

Intraperitoneal haemorrhage is a rare complication of myomatous uterus. We present a case of a 37-year-old white nullipara who presented in the emergency room with acute, lower-abdominal pain which reportedly started after riding over a bump on a motorcycle. On examination, the abdomen was diffusely tender, with moderate spasm and rebound tenderness in both iliac fossae.