Temi etici in Medicina di Laboratorio
|Biochimica Clinica 2021; 45(2) 105-106
Pubblicato online il: 14.05.2021
Il percorso comune europeo per la formazione degli specialisti in Medicina di Laboratorio: un traguardo sempre più vicino
|TAG: formazione specialisti medicina di laboratorio|
|Biochimica Clinica 2021; 45(2) 107-108
Pubblicato online il: 07.04.2021
Il microbiota umano: il buono, il brutto e il cattivo
Human microbiota: the good, the bad and the ugly
In recent years, the development and the huge diffusion of Next Generation Sequencing (NGS)-based techniques has allowed the study of microbial communities at a previously unimaginable resolution level. Consequently, the knowledge of the role and functions of the human microbiota in various body sites has increased, identifying several fundamental roles for the microbiota in the development and maintenance of body homeostasis, also in relation to various ages of life. On the other hand, a number of microbiota qualitative and/or quantitative alterations have been associated with several diseases, and the trend is increasing. Since targeted interventions can modify the microbiota, the definition of its composition in physiological and pathological conditions acquires crucial importance for the development of new diagnostic tools and/or therapeutic approaches aimed at manipulating the microbiota.
|TAG: microbiota umano metagenomica 16SrRNA|
|Biochimica Clinica 2021; 45(2) 109-122
Pubblicato online il: 23.02.2021
Emoglobinopatie: quadri clinici e ruolo del laboratorio tra realtà e prospettive future
Hemoglobinopathies: clinical pictures and role of the laboratory between reality and future prospects.
The term hemoglobinopathies generally includes all the defects of the globin genes. In most of the cases, these defects are transmitted as autosomal recessive patterns and are in the heterozygous state, clinically asymptomatic. A substantial variability in hematological and clinical phenotypes is observed when defects occur in the homozygous state, in heterozygous compounds or are associated with variations in non-globin genes. The marked hematological, molecular and clinical heterogeneity of hemoglobinopathies requires experience and competence for the use of different technologies, the organization of the diagnostic procedures and for the clinical management of patients as well. There is no doubt that the numerous hemoglobin variants and different combinations observed nowadays are the result of migratory movements that have taken place in recent decades with the arrival in Italy and Europe of important numbers of subjects, mostly from territories where hemoglobin defects are particularly present. The laboratory tests, defined as 1st level or primary screen, are still the fundamental step of the diagnostic approach to hemoglobinopathies and cannot be avoided. However, confirmatory tests and molecular characterization are always required for a diagnostic approach characterized by the combined use of hematological, biochemical and molecular techniques. The laboratory will thus be able to provide the clinician with adequate elements for patient management, in the different contexts of prevention, counseling or therapeutic choices. The laboratory dedicated to hemoglobinopathies is oriented towards precision medicine by acting on levels of increasing complexity, thus providing useful knowledge for the benefit of personalized medicine.
|TAG: emoglobinopatie medicina di precisione geni globinici|
|Biochimica Clinica 2021; 45(2) 123-140
Pubblicato online il: 26.02.2021
Comparison of albumin-bilirubin grade with Child-Pugh and Model for End Stage Liver Disease scores in chronic liver disease
Introduction: chronic liver diseases are characterized by injury to hepatocytes, chronic inflammation and progressive substitution of liver parenchyma by scar tissue or fibrosis. Albumin-bilirubin grade (ALBI) includes serum albumin and bilirubin levels, two most commonly performed and cost-effective parameters measured in the Clinical Laboratory. This study aims to establish an association between ALBI grade and Model for End stage Liver Disease (MELD) and Child-Pugh (CP) scores among chronic liver disease patients.
|TAG: albumin-bilirubin chronic liver disease|
|Biochimica Clinica 2021; 45(2) 141-145
Pubblicato online il: 10.02.2021
Contributi Scientifici -
Valutazione degli anticorpi anti SARS-COV-2 nell’ambito di un progetto di costituzione di una banca di plasma iperimmune
SARS-COV-2 antibodies in patients candidates as donors of immune plasma
Background: in this study SARS-CoV-2 serology was investigated, using three different methods, in a cohort of convalescent patients from SARS-CoV-2 infection, recruited for the establishment of a hyperimmune plasma bank.
|TAG: anticorpi SARS-COV-2 plasma iperimmune|
|Biochimica Clinica 2021; 45(2) 146-152
Pubblicato online il: 26.02.2021
Contributi Scientifici -
Antibody identification in COVID-19 pandemic: a comparison between immunochemiluminescence and immunochromatography methods
Introduction: in the fight against the COVID-19 pandemic, the determination of the serum antibodies against SARS-CoV-2 is highly relevant, although the reliability of the results delivered is sometimes questionable. The aim of this paper is to evaluate the performances of a rapid immunochromatography test for IgG and IgM antibodies, comparing them with an immunochemiluminescence method.
|TAG: COVID-19 immunochromatography point of care|
|Biochimica Clinica 2021; 45(2) 153-157
Pubblicato online il: 12.04.2021
Contributi Scientifici -
Modalità di refertazione del D-Dimero e prestazioni dei sistemi analitici: quali informazioni dal programma di Valutazione Esterna di Qualità del Centro di Ricerca Biomedica
Reporting of D-Dimer and performance of analytical systems: data from participants to the External Quality Assessment Scheme of the Biomedical Research Centre in Italy
Introduction: D-Dimer assessment represents a cornerstone in the diagnostic approach to several thrombotic disorders. Recent literature has highlighted the role of D-Dimer also in the diagnostic pathway of coronavirus infection (COVID-19) and the importance of harmonized reporting [D-dimer unit (DDU) or fibrinogen equivalent unit (FEU); unit of measure; cut-off] in order to guarantee the correct interpretation of the results.
|TAG: D-dimero Armonizzazione Programmi di Valutazione Esterna di Qualità|
|Biochimica Clinica 2021; 45(2) 158-167
Pubblicato online il: 14.04.2021
Contributi Scientifici -
La Fibrosi Cistica: comorbidità, geni modificatori e medicina di precisione
Cystic Fibrosis: comorbidities, modifier genes and precision medicine
Cystic Fibrosis (CF) is a serious genetic disease, autosomal recessive, monogenic, which equally involves males and females mainly of Caucasian populations (1 affected for every 2500 - 3000 newborns). The first symptoms are evident from birth or within 2 years of age with respiratory infections and growth difficulties which are, at first, the most evident signs. The genetic basis of CF has been definitively clarified with the identification of the disease-gene in 1989, and more than 2000 different mutations are known, today, throughout the gene. The clinical characteristics of the disease are very heterogeneous, its phenotyping turns out to be, in fact, multi-organs. Given the great complexity of the phenotypes associated with CF and the presence of many comorbidities, the question whether genetics, and therefore the presence of modifying/modulating genes of the phenotype, could play a role in the manifestation and in the severity of symptoms is of fundamental importance. Several linkage and Genome Wide Association (GWAS) studies have been useful in this context and to date there are a number of evidences of the presence of CF modifier genes. Personalized medicine, a continuously developing field, has allowed the development of numerous therapeutic strategies, also directed towards specific genomic mutations.
|TAG: fibrosi cistica geni modificatori medicina di precisione|
|Biochimica Clinica 2021; 45(2) 168-175
Pubblicato online il: 27.04.2021
L’etica in medicina di laboratorio nella terza era della medicina
Ethics in laboratory medicine in the era 3 for medicine
Laboratory medicine, just as other areas of medicine, is obliged to adhere to high ethical standards. Many countries and professional societies have developed policies and guidance materials on ethical issues related to laboratory medicine. In particular, the International Organization for Standardization (ISO) in the accreditation standard ISO 15189:2012 "Medical laboratories − Requirements for quality and competence" has dedicated a specific section to this issue. Section 220.127.116.11 of the document, in fact, summarizes the ethical conduct expected in laboratories, including requirements for the pre-, intra- and post-analytical phases of the testing cycle. The International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) has established a Task Force on Ethics (TF-E) with the aim to to increase awareness among Laboratory Medicine Professionals of ethical issues and to encourage the practice of Laboratory Medicine to the highest ethical standards. Here we would like to highlight the main aspects of ethics in laboratory medicine, particularly in the context of the current era of medicine.
|TAG: etica medicina di laboratorio norme ISO|
|Biochimica Clinica 2021; 45(2) 176-179
Pubblicato online il: 27.04.2021
Glossario di epidemiologia
Glossary of epidemiology
The COVID-19 pandemic faces the reader of scientific papers with a variety of epidemiologic terms, often not familiar to the reader. A further problem is due to the incomplete standardization of those terms, that can assume partly different meaning in different settings. These problems can hamper the correct comprehension and interpretation of the data presented. These considerations represented the spur to formulate a glossary of the more common epidemiological terms, mainly using the COVID-19 epidemics as example, but taking into account also other infectious diseases and chronic non-infectious diseases as well. To facilitate the reading of the vast majority of papers, which are written in English, the corresponding English terms are reported.
|TAG: epidemiologia malattie trasmissibili malattie croniche|
|Biochimica Clinica 2021; 45(2) 180-195
Pubblicato online il: 16.03.2021
Integrità della ricerca: comprendere la nostra comune responsabilità per un sistema accademico sostenibile
Research Integrity: Understanding our shared responsibility for a sustainable scholarly ecosystem.
This report encourages everyone involved in research to broaden their view of what it means to conduct research with integrity and to consider how certain research evaluation instruments and incentive mechanisms are leading to a rise in deviant publication behavior. Research integrity is a crucial topic for all those involved in the creation, delivery and assessment of academic literature. Without a trusted record of research, it is impossible to reliably build on previous ideas, replicate results, or effectively utilize the outcomes of research. The traditional focus on fabrication, falsification and plagiarism is no longer enough – new forms of manipulation are emerging as some stakeholders seek an unfair advantage. Our report is intended as a guide – first, to expose the range of tactics used; second, to describe our varied and collaborative responsibilities; and third, to highlight current and future technological enhancements that will help us all uphold the principles of research integrity. Many of the tactics we describe are subtle, often manifesting as small infringements, but when accumulated over large quantities, their effects can be substantial and rewarding. The future will be challenging as the digital transformation of research continues to accelerate our progress. Collaboration is essential since no single party can be expected to police and enforce research integrity – it is a shared responsibility that will require us to come together to develop new guidelines on what is considered unethical and decide on the appropriate actions to take when community norms are breached.
|TAG: ricerca sistema accademico sostenibile pubblicazioni|
|Biochimica Clinica 2021; 45(2) 196-210
Pubblicato online il: 09.02.2021
Il Percorso Comune di Formazione per Specialisti in Medicina di Laboratorio secondo la Direttiva Europea 2013/55/EC (Il riconoscimento delle qualifiche professionali)
A proposed common training framework for specialists in laboratory medicine under EU directive 2013/55/EC (The recognition of professional qualifications)
G. Wieringa | J. Queraltò | E. Homsak | N. Jassam | E. Cavalier | D. Svinarov | J. Krleza | S. Christou | R. Pikner | T. Rennebod Larsen | K. Tomberg | A. Linko-Parvinen | V. Sapin | H. Baum | C. Kroupis | Z. Bagoly | S. Costelloe | L. Sciacovelli | J. Stasulans | D. Vitkus | D. Meunier | B. Solnica | H. Reguengo | C. Mambet | G. Kovac | B. Krhin | M. Ohlson | G. Buhagiar | AM. Simundic |
European Union (EU) Directive 2013/55/EC (The Recognition of Professional qualifications) allows Member States to decide on a common set of minimum knowledge, skills and competences that are needed to pursue a given profession through a Common Training Framework. To be adopted the framework must combine the knowledge,skills and competences of at least one third of the Member States. Professionals who have gained their qualifications under a Common Training Framework will be able to have these recognised automatically within the Union. Thebackbone of the European Federation of Clinical Chemistry and Laboratory Medicine’s (EFLM) proposed Common Training Framework for non-medical Specialists in Laboratory Medicine is outlined here. It is based on an Equivalence of Standards in education, training, qualifications, knowledge, skills, competences and the professional conduct associated with specialist practice. In proposing the recognition of specialist practice EFLM has identified 15 EU Member States able to meet Equivalence and in whom the profession and/or its training is regulated (an additional EU Commission requirement). The framework supports and contributes to the Directive’s enabling goals for increasing professional mobility, safeguarding consumers and ensuring a more equitable distribution of skills and expertise across the Member States. It represents EFLM’s position statement and provides a template for professional societies and/or competent authorities to engage with the EU Commission.
|TAG: formazione medicina di laboratorio direttiva europea|
|Biochimica Clinica 2021; 45(2) 211-218
Pubblicato online il: 07.04.2021
Documenti SIBioC -
Interferenza analitica sul conteggio dei leucociti
Analytical interference on leucocyte count
Chronic lymphoproliferative disorders typically affect elderly patients with a median age at the diagnosis of 71 years. These disorders include a number of conditions characterized by an abnormal proliferation of lymphocytes towards a monoclonal lymphocytosis. The case of an 83-year-old man affected by chronic lymphocytic leukemia is presented; the peripheral blood cells count, performed on the analyzer Sysmex XN-20, showed significant differences between the white nucleated red (WNR) and white differentiation (WDF) channels that did not allow the differential counting of leukocytes. On the opposite, the reflex analysis channel white progenitor cell (WPC), returned the correct white blood cell count. Actually, when the peripheral blood sample was diluted (1:5) and resubmitted to analysis, leukocytes count resulting from WNR and WDF analysis channels corresponded to that obtained in the reflex WPC analysis channel on the undiluted sample. To verify if the instrumental anomaly found in the cell counting could be associated to an elevated plasma concentrations of immunoglobulins, a serum protein electrophoresis was performed, showing the presence of four monoclonal components. These data demonstrate that the WPC channel is an important tool for the clinical laboratory, since it is able to give a correct result even when interferents are present.
|TAG: leucociti leucemia linfatica cronica interferenza analitica|
|Biochimica Clinica 2021; 45(2) e11-e14
Pubblicato online il: 14.01.2021
Casi Clinici -
Un caso di falsa neutropenia
A case of fictitious neutropenia
A 2-month-old newborn was hospitalized for fever, persistent infections, failure to thrive. Complete differential blood count detected a severe neutropenia and monocytosis, associated to an anomalous scatterplot of the hematology analyzer. Blood film review showed that neutrophils had been misclassified as monocytes, due to hypogranulated cytoplasms and nuclear hyposegmentation. Re-analysis on a different hematology platform agreed with the manual differential count. These clinical-morphological features suggested a possible diagnosis of immune deficiency due to lack of neutrophil specific granules. Indeed, Sanger sequencing allowed the detection of a homozygous mutation in SMARCD2 gene, whose alterations very recently had been associated to a similar syndrome, encompassing both hematological and skeletal anomalies. This case shows that a proper interpretation of routine tests can successfully drive the choice of higher-level analysis and led to a prompt diagnosis of a very rare condition. The diagnosis paved the way to a precocious allogeneic hematopoietic stem-cell transplantation that successfully cured the condition of immune deficiency and the hematology abnormalities of the young patient.
|TAG: neutropenia analizzatore ematologico conta differenziale|
|Biochimica Clinica 2021; 45(2) e15-e19
Pubblicato online il: 15.04.2021
Casi clinici -