Gene of the month: PALB2.

The partner and localiser of BRCA2 (PALB2) gene, located on chromosome 16, functions as a tumour suppressor that plays a critical role in homologous recombination repair after DNA double-strand breaks. It encodes proteins involved in the BRCA2 and BRCA1, and RAD51 pathways. Heterozygous germline mutations in PALB2 have been implicated in the development of breast, pancreatic and ovarian cancers.

Gene of the month: ERG.

The gene belongs to the erythroblastosis transformation specific family of transcription factors and encodes for the transcription regulator protein ERG. It is located on chromosome 22q22 and is a nuclear transcription factor. In normal physiology, ERG protein is expressed in endothelial cells and is involved in processes including, but not limited to, angiogenesis and haematopoiesis.

Use of whole slide imaging (WSI) for distance teaching.

Background: Time, travel and financial constraints have meant that traditional visiting teaching engagements are more difficult to accomplish. This has been exacerbated with the advent of the COVID-19 pandemic. The use of digital pathology and whole slide imaging (WSI) as an educational tool for distance teaching is underutilised and not fully exploited.

Establishment of a remote diagnostic histopathology service using whole slide imaging (digital pathology).

Background: Whole slide imaging (WSI) has diverse applications in modern pathology practice, including providing histopathology services to remote locations.

Materials And Methods: Utilising an existing contractual partnership with a Northern Ontario group of hospitals, the feasibility of using WSI for primary diagnostic services from Toronto was explored by the dedicated working group. All aspects explored from information technology (IT), laboratory information system (LIS) integration, scanning needs, laboratory workflow and pathologist needs and training, were taken into account in the developing the rationale and business case.

Review of pathological findings in laparoscopic sleeve gastrectomy specimens performed for morbid obesity.

Background: Bariatric surgical procedures are employed when there is a failure of lifestyle modification in arresting obesity. Laparoscopic sleeve gastrectomy (LSG) is quickly becoming the bariatric surgical procedure of choice. LSG results in a gastric remnant that is subject to pathological examination.

Multiple sclerosing pneumocytomas: a review.

Sclerosing pneumocytoma (SP) is a rare benign low-grade tumour of the lung, and typically presents as single discrete coin lesions on imaging. Multiple SP is an exceedingly rare entity and thus reported sparingly. We review the literature on multiple SP, their clinical presentations, histopathology, relevant differential diagnoses and molecular histogenesis of this entity.

family of genes.

The subgroup of genes belong to the SWI1/SNF1 family that are responsible chromatin remodelling and repair. Inactivating mutations in the main genes and lead to loss of expression of their respective proteins within the nucleus and, as such have characterised a set of malignancies that are underpinned by SMARCA-deficiency.The morphology of these tumours ranges from small to large epithelioid cells, giant cells and rhabdoid cells.

Review of pathology and cost benefit analysis of hernia sacs processed over a 19-year period.

Aim: Hernia sacs with pathological evaluation over a 19-year period were analysed with regards to pathological diagnoses, full costing and the impact on patient management.

Materials And Methods: The database of the Department of Pathology were searched over the study period (2001 to 2019 inclusive) for hernia sacs. The total cost of complete pathology examination was calculated on average numbers and rates of pay that existed over the study period.

Gene of the month: GLI-1.

The () gene was first discovered to be amplified in glioblastoma multiforme. It encodes for a zinc-finger transcription factor in the Kruppel family of proteins and is important in the sonic hedgehog signalling pathway. also plays a role in several other pathways and is important for proliferation, migration, invasion, growth and angioinvasion, and cancer stem cell self-renewal in a variety of malignancies.

Cerebral Oximetry in Ugandan Children With Severe Anemia: Clinical Categories and Response to Transfusion.

Importance: Severe anemia, defined as a hemoglobin level of less than 5.0 g/dL, affects millions of children worldwide. The brain has a high basal demand for oxygen and is especially vulnerable to hypoxemia.

B-type natriuretic peptide and plasma hemoglobin levels following transfusion of shorter-storage versus longer-storage red blood cells: Results from the TOTAL randomized trial.

Background: Prior studies have suggested that transfusion of stored red blood cells (RBCs) with increased levels of cell-free hemoglobin might reduce the bioavailability of recipient nitric oxide (NO) and cause myocardial strain.

Methods: Ugandan children (ages 6-60 months) with severe anemia and lactic acidosis were randomly assigned to receive RBCs stored 1-10 days versus 25-35 days. B-type natriuretic peptide (BNP), vital signs, renal function test results, and plasma hemoglobin were measured.

Effect of Transfusion of Red Blood Cells With Longer vs Shorter Storage Duration on Elevated Blood Lactate Levels in Children With Severe Anemia: The TOTAL Randomized Clinical Trial.

Importance: Although millions of transfusions are given annually worldwide, the effect of red blood cell (RBC) unit storage duration on oxygen delivery is uncertain.

Objective: To determine if longer-storage RBC units are not inferior to shorter-storage RBC units for tissue oxygenation as measured by reduction in blood lactate levels and improvement in cerebral tissue oxygen saturation among children with severe anemia.

Design, Setting, And Participants: Randomized noninferiority trial of 290 children (aged 6-60 months), most with malaria or sickle cell disease, presenting February 2013 through May 2015 to a university-affiliated national referral hospital in Kampala, Uganda, with a hemoglobin level of 5 g/dL or lower and a lactate level of 5 mmol/L or higher.