Catlab Reports Bulletin

Genetic study of MGMT gene promoter methylation in glioblastoma multiforme.

Glioblastoma multiforme(GBM)is an aggressive type of brain tumor with a poor prognosis. The usual chemotherapy treatment with temozolomide (TMZ) is more effective in patients with a methylated MGMT gene promoter. The MGMT gene encodes an enzyme with a DNA repair function, and the inactivation of this gene through methylation, results in tumors being more sensitive to alkylating agents such as TMZ.

At CATLAB, we have recently incorporated the study of the methylation status of the MGMT gene promoter, using real-time PCR in tissue samples preserved in paraffin, treated with bisulfite. The presence of methylation indicates a greater response to chemotherapy and a better prognosis, while the absence of methylation predicts resistance to therapy.

This test helps to personalize treatment and improve therapeutic decisions for patients with GBM.

Initial evaluation of patients with lymphocytosis

In adults, lymphocytosis is considered to be an absolute lymphocyte count greater than 4x109/L, and in children up to 10 years of age, greater than 7x109/L.

To assess lymphocytosis, it is necessary to take into account patient's age, clinical history, time of onset and evolution of lymphocytosis, physical examination (lymph node areas, liver, spleen), laboratory parameters and morphological findings of lymphocytes.

Causes can be divided into 2 large groups: reactive lymphocytosis and clonal lymphocytosis or lymphoproliferative syndromes.

Below, we will summarize lymphopoiesis, discuss following steps in the initial study of patients and list the main causes,while describing morphological findings found in the review of the smear. In addition, we will explain the Catlab work methodology for the study of this frequent alteration.

Use of preoteinogram: Keys for demand optimization

The proteinogram is the main method for detecting and monitoring monoclonal components (MC) in patients with suspected or affected monoclonal gammopathy (MG). Average age MG diagnosis is 65 years, with an overall incidence of 65 cases/100,000 inhabitants/year in those over 60 years of age, and 5 cases/100,000 inhabitants/year in those under 60 years of age. Due to the marked difference in incidence based on age, Clinical Laboratory Societies indicate that it is not necessary to request this test in patients <50 years of age if there is no clinical suspicion of GM, nor to perform GM screening in the general population, given the lack of data supporting an improvement in patient prognosis. However, in daily clinical practice, we encounter many requests for proteinograms in contexts other than GM screening.

Diagnosis of malabsorption and lactose intolerance. Gaxilose

test.

Lactose is a disaccharide formed by glucose and galactose that is present in milk and its derivatives. For its assimilation, the enzyme lactase is necessary to hydrolyze lactose into its two components, glucose and galactose. With the end of lactation, the expression of this enzyme decreases leading to lactose malabsorption. The association of symptoms with this malabsorption is called lactose intolerance.

Both malabsorption and lactose intolerance are underdiagnosed in our environment because they share symptoms with other pathologies or because in some cases the symptoms may be atypical without a clear relationship with dairy intake. To determine lactose malabsorption, in Catlab we perform the gaxylose urine test, a non-invasive test that is performed in an automated way.

Good practices in Patient Safety

The clinical analysis laboratory is decisive in healthcare as the information it provides can condition the diagnosis, follow-up, prognosis and treatment of the patient. For this reason it is important to put in place measures to ensure that the processes are carried out with the maximum security guarantees. A good strategy to prevent incidents or adverse events is the application of "safe practices" such as correct patient identification, safe transfusion and effective communication.

Point of care testing (POCT),generalities and challenges of accreditation

Over the last few years POCT tests have emerged as a crucial tool in the field of medical care allowing the obtaining of fast and accurate results, which accelerates the process of diagnosis, follow-up and treatment, thus improving efficiency and the quality of medical care. At Catlab we share our experience in the accreditation of POCT gasometers, through which we demonstrated that the work is done in accordance with internationally accepted standards and that we have the required technical competence.

The use of rapid diagnostic tests are useful for the management of patients with acute pathology who consult in the emergency room,as long as we can change the therapeutic attitude. Indiscriminate use can lead to a misinterpretation of results.

In the ​​microbiology area and paediatrics, we have drawn up a document with indications for use of the Filmarray™ respiratory panel in paediatrics.

Optimization of time and improvement in quality in the genetics service by automating tests with the ELITe InGenius analyzer

Genetics protocols are normally characterized by high complexity and multiple manual processes. Many of these protocols, such as those based on real-time polymerase chain reaction (qPCR), are similar to those used in the Molecular Microbiology section. Taking advantage of the fact that this section made progress in the acquisition of automated equipment due to the SARS-CoV-2 pandemic, the genetics section has proceeded to integrate a part of our activity into this equipment, achieving a substantial improvement in terms of reduction of response times, a reduction in both technical and medical dedication time, lower risk of pre- and post-analytical errors and better traceability of the entire procedure.

ISO 14001

implementation at Catlab. Challenges and opportunities

The climate context in which we find ourselves makes the awareness of all parties to confront it increasingly relevant. Thus, in Catlab, since 2017, an Environmental Management system aligned with the sustainable development objectives began to be implemented, culminating in the ISO14001 Environmental Management certification. During this period, various actions have been carried out, such as the analysis of the carbon footprint and an improvement action plan, aiming at continuous improvement through the application of risk and opportunity matrices reviewed annually.

Informed consent for genetic studies: array-CGH and exome sequencing

Genetic studies available nowadays provide a large amount of information, which can be complex, difficult to understand and assimilate.

In the genetics area of Catlab we have written a complete document, approved by the Healthcare Ethics Committee of the Mutua de Terrassa University Hospital, which contains the necessary information to guide both doctors and patients. This document also contains the consent itself, which must be signed, prior to obtaining the samples and their analysis, by both the patient and the health professional.

This document will be available to all professionals through HCIS, and will be recorded in the patient's medical history.