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 quadri clinici ruolo del laboratorio|
Pubblicato online il: 26.02.2021
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|
Pubblicato online il: 26.02.2021
Contributi Scientifici -
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|
Pubblicato online il: 10.02.2021
Contributi Scientifici -
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|
Pubblicato online il: 09.02.2021
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|
Pubblicato online il: 14.01.2021
Casi Clinici -