New challenges for BRCA testing:a view from the diagnostic laboratory

Increased demand for BRCA testing is placing pressures on diagnostic laboratories to raise their mutation screening capacity and handle the challenges associated with classifying BRCA sequence variants for clinical significance, for example interpretation of pathogenic mutations or variants of unknown significance, accurate determination of large genomic rearrangements and detection of somatic mutations in DNA extracted from formalin-fixed, paraffin-embedded tumour samples. Many diagnostic laboratories are adopting next-generation sequencing (NGS) technology to increase their screening capacity and reduce processing time and unit costs. However, migration to NGS introduces complexities arising from choice of components of the BRCA testing workflow, such as NGS platform, enrichment method and bioinformatics analysis process. An efficient, cost-effective accurate mutation detection strategy and a standardised, systematic approach to the reporting of BRCA test results is imperative for diagnostic laboratories. This review covers the challenges of BRCA testing from the perspective of a diagnostics laboratory

A practical approach to the ESC 2022 cardio-oncology guidelines. Comments by a team of experts: cardiologists and oncologists

The 2022 European Society of Cardiology (ESC) guidelines [1] are a comprehensive document, prepared jointly by experts in cardiology and oncology. In the case of an oncological patient, it is necessary to individualize care in relation to the cardiological condition, the stage of the cancer and the type of potential anti-cancer therapy. Cardiac care optimisation should be undertaken before the start of oncological therapy, and continued during oncological therapy, as well as long-term after its completion [2]. The published ESC Guidelines were supplemented with a practical comments of a team of polish cardiology and oncology experts

Process approach as an important element of stimulating the use of tacit knowledge in healthcare management (specialized hospital)

Wiedza niejawna odgrywa istotną rolę w procesie kształtowania strategii realizowanych w obrębie szpitala specjalistycznego. Właściwa implikacja wiedzy niejawnej w procesie decyzyjnym intensyfikuje możliwość osiągnięcia zamierzonych efektów. Należy więc zwrócić szczególną uwagę na rozwiązania w zakresie zarządzania, które mogą maksymalizować pozytywny wpływ wykorzystania i dzielenia się wiedzą w publicznej placówce medycznej (szpitalu specjalistycznym). Jednym z takich rozwiązań może być wdrażanie w przestrzeni praktycznej założeń podejścia procesowego.Tacit knowledge plays an essential role in shaping the strategy implemented within the specialized hospital (oncology center). Correct implementation of this knowledge in the decision making process enhance the achievement of specific goals. We should pay special attention to the management that could maximize the positive impact of using and sparing knowledge in a public healthcare facility. One of this solutions could be implementing in practice the process approach

Novel potential of pancreatic-like enzymes of microbial origin in exocrine pancreatic insufficiency - study on a pig model

Introduction. The standard porcine-derived pancreatic enzyme replacement therapy (PERT) is a lifesaving treatment for patients with diseases causing exocrine pancreatic insufficiency (EPI). An attempt to replace PERT with microbial enzymes were undertaken. The aim was to highlight whether the mode of application, mixed with food or applied directly to the stomach, of pancreatic-like enzymes of microbial origin (PLEM) can affect their activity along the gastrointestinal tract. Materials and method. The activity of amylase, lipase and proteinase in the stomach, duodenum and ileum were tested in EPI pigs (n=6) after supplementation of PLEM, either orally – before and during feed consumption – or via the stomach – before and during feed consumption. Healthy pigs not treated with PLEM (n=3) served as controls. Activity of the enzymes measured in the chyme were obtained together with the digesta pH. Activity of the enzymatic residues in the stool samples was also checked. Results. The highest pancreatic enzyme activities were found in the duodenum of the healthy pigs (amylase 162,68 kU/ mL, lipase 507,34 kU/mL and protolitic (trypsin) activity 357,60 kU/mL). Nevertheless, the microbial enzymes remained also active along the entire length of the GIT – including stomach in EPI pigs, regardless of their route of administration. However, activity level was significantly lower. Discussion. Results indicate that the activity pattern of PLEM in the small intestine mimics the activity of the natural endogenous pancreatic enzymes in healthy pigs. The most physiological features of PLEM were observed when enzymes were offered orally. The magnitude of PLEM activity in the stomach of EPI pigs was essential and significantly higher than that measured in healthy pigs, thus being somewhat not physiological, and for health reasons of the patients should be further explored. Interestingly, specific trypsin-like activity was measured in all parts of the GIT after PLEM application. However, proteolytic activity of the experimental proteaze in in vitro studies did not exhibit trypsin-like activity