Implementing recommendations for routine mismatch repair (MMR) immunohistochemistry (IHC) testing of endometrial cancer and subsequent patient management.

Lynch syndrome is associated with an increased risk of cancer, including endometrial cancer. We audited the introduction of a nurse-led testing and management pathway for Lynch syndrome. All 191 patients diagnosed with endometrial cancer at Somerset NHS Foundation Trust between January 2022 and December 2023 were tested for mis-match repair (MMR) protein immunohistochemistry; germline testing was offered to all 13 who were eligible.

Small cell carcinoma of the ovary, hypercalcaemic type causing an acute kidney injury.

SummaryWe report a case of small cell carcinoma of the ovary, hypercalcaemic type, a rare and aggressive form of ovarian cancer, causing an acute kidney injury. A woman in her mid-30s presented with a large pelvic mass and abdominal distention, this was associated with rapidly deteriorating renal function, which did not improve with standardised kidney injury treatment. There was a high suspicion of ovarian cancer.

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense variants, complicating variant interpretation. A few were reported with truncating variants, and their role in disease is unclear.

A system for producing controlled elevation of intraocular pressure in awake Brown Norway rats.

Animal models that help us understand how elevated intraocular pressure (IOP) causes axonal injury will lead to new glaucoma therapies. Because reliable measurements are difficult to obtain in chronic models, we developed the controlled elevation of IOP (CEI) approach. Here, a cannula connected to an elevated balanced salt solution (BSS) reservoir is inserted into the anterior chamber of anesthetized Brown Norway rats.

Cardiac growth patterns and metabolism before and after birth in swine: Role of miR in proliferation, hypertrophy and metabolism.

The adult mammalian heart is unable to undergo cardiac repair, limiting potential treatment options after cardiac damage. However, the fetal heart is capable of cardiac repair. In preparation for birth, cardiomyocytes (CMs) undergo major maturational changes that include exit from the cell cycle, hypertrophic growth, and mitochondrial maturation.