Quality Indicators of the Pre-Analytical Phase

Background: There is an apparently increased tendency toward infections in patients with Gaucher disease, possibly due to defective neutrophil function rather than a decreased neutrophil count. Since macrophages are the main cell type affected in Gaucher disease, our aim was to determine the contribution of these cells to the susceptibility of Gaucher patients to infection by studying the respiratory burst capacity of peripheral blood monocytes. Methods: The study was performed in eleven Gaucher type 1 patients and eleven sex and age matched control subjects by measuring peripheral blood monocytes’ respiratory burst capacity using flow cytometry. The respiratory burst capacity was measured as dihydrorhodamine-123 median fluorescence in patients and respective controls. Results: There was no statistical difference in the median fluorescence among the patients and respective controls (p>0.05) after phorbol 12-myristate 13-acetate stimulation. Also, statistical difference was not reached among patients treated with enzyme replacement therapy at the time and those untreated. Conclusions: Flow cytometry might represent a more accurate and more reliable measure of respiratory burst compared to the methods of other researchers. Respiratory burst disturbance in monocytes does not seem to contribute to increased susceptibility to infection in Gaucher patients.

Section: Resultsmentioning

confidence: 99%

Flow Cytometric Assay of Respiratory Burst Capacity in Peripheral Blood Monocytes of Gaucher Type 1 Patients

Rodić¹,

Popadić²,

Suvajdzic-Vukovic³

et al. 2014

“…Since many risk factors, such as obesity, hypertension, dyslipidemia, diabetes and smoking are common for both arterial and venous thromboses, it has been suggested that VTE should be considered as a part of a pancardiovascular syndrome, along with coronary artery disease, peripheral artery disease and cerebrovascular disease (72).…”

Section: Cardiovascular Riskmentioning

confidence: 99%

An Integrative Approach to the Patient with Thrombophilia / SVEOBUHVATNI PRISTUP BOLESNIKU SA TROMBOFILIJOM

Mitić¹

2014

SummaryVenous thromboembolism (VTE) is a multifactorial disease that results from a conjunction of several risk factors, both inherited and acquired. The younger the person, the more risk factors are required to cause the disease. Since 1937, when the term thrombophilia was coined by Nygaard and Brown, and 1965 when it was used for the first time by Egeberg, a substantial increase in the percentage of patients with VTE and underlying thrombophilia has been reported, particularly after the discovery of the most common thrombophilic mutations, FV Leiden and FII G20210A. Presence of thrombophilia could be detected in as many as 50% of all patients with VTE. Thrombophilia testing has increased lately not only in patients with thromboses but also for other indications, however, whether the results will help in the clinical management of the patients is still unclear. Thrombo philia testing is most commonly performed in young patients with VTE, patients with recurrent episodes of VTE or with thromboses at unusual sites and in persons with positive family history. Whether the presence of thrombophilia influences the clinical management of the patient remains controversial. Patients with VTE and the recognized risk factors such are surgery, trauma, immobilization, pregnancy and the puerperium are at very low risk for recurrence, but prediction of the recurrence of VTE based on the presence of thrombophilia has not been sufficiently explored. Presence of clinical risk factors should be integrated in the strategy of VTE risk assessment. Since many risk factors, such as obesity, hypertension, dyslipidemia, diabetes and smoking are common for both arterial and venous thromboses, it has been suggested that VTE should be considered as part of a pancardiovascular syndrome, along with coronary artery disease, Kratak sadr`ajVenska tromboembolijska bolest (VTE) nastaje kao rezultat udru`enog delovanja brojnih faktora rizika, kako naslednih tako i ste~enih. U~estalost VTE je direktno povezana sa staro{}u, tako da je u mla|em uzrastu neophodno udru`eno delovanje vi{e faktora rizika za nastanak venske tromboze. Prisustvo trombofilije se mo`e utvrditi kod oko polovine bolesnika sa VTE. Dijagnostika trombofilije je sve ~e{}a u svako dnevnom laboratorijskom radu, ne samo kod bo lesnika sa trombozama ve} i za druge indikacije kao {to su komplikacije trudno}e izazvane o{te}enjem placentalne vasku larizacije, a da nije u potpunosti razja{njeno da li }e prisustvo trombofilije uticati na dalji tok le~enja i sveobuhvatni pristup bolesniku. Naj~e{}e indikacije za ispitivanje trombofilije su tromboze u mla |em uzrastu, recidivi venskih tromboza, tromboze na ne uo bi~ajenim mestima kao i postojanje tromboza kod vi{e ~la no va porodice. Dijagnostika trombofilije se naje{}e ko risti kao pomo} u proceni rizika za nastanak recidiva VTE, mada je dosada{njim ispitivanjima pokazano da samo te{ke trom bo filije, kao {to su deficit inhibitora koagulacije, homo zigotni oblik mutacije FV Leiden ili udru`eni heterozigoti za FV Lei den i FII G20210A, predst...

“…In order to avoid misinterpretation of the test results, laboratory experts should report the potential causes of false-positive and falsenegative test results using interpretative comments along with the test result reports (140,141).…”

Section: When Should Investigation Be Performed?mentioning

confidence: 99%

Laboratory Investigation of Thrombophilia / LABORATORIJSKO ISPITIVANJE TROMBOFILIJA

Margetić¹

2014

Summary: Laboratory investigation of thrombophilia is aimed at detecting the well-established hereditary and acquired causes of venous thromboembolism, including activated protein C resistance/factor V Leiden mutation, prothrombin G20210A mutation, deficiencies of the physiological anticoagulants antithrombin, protein C and protein S, the presence of antiphospholipid antibodies and increased plasma levels of homocysteine and coagulation factor VIII. In contrast, investigation of dysfibrinogenemia, a very rare thrombophilic risk factor, should only be considered in a patient with evidence of familial or recurrent thrombosis in the absence of all evaluated risk factors mentioned above. At this time, thrombophilia investigation is not recommended for other potential hereditary or acquired risk factors whose association with increased risk for thrombosis has not been proven sufficiently to date. In order to ensure clinical relevance of testing and to avoid any misinterpretation of results, laboratory investigation of thrombophilia should always be performed in accordance with the recommended guidelines on testing regarding the careful selection of patients, time of testing and assays and assay methods used. The aim of this review is to summarize the most important aspects on thrombophilia testing, including whom and when to test, what assays and assay methods to use and all other variables that should be considered when performing laboratory investigation of thrombophilia.Keywords: acquired risk factors, hereditary risk factors, laboratory investigation of thrombophilia, venous thromboembolism Sa`etak: Cilj laboratorijskog ispitivanja trombofilije je otkrivanje ve} ustanovljenih naslednih i ste~enih uzroka venskog tromboembolizma, me|u kojima su aktivirana rezistencija na protein C/mutacija faktora V Leiden, mutacija protrombina G20210A, deficijencija fiziolo{kih antikoagulanasa antitrombina, proteina C i proteina S, prisustvo antifosfolipidnih antitela i povi{enih nivoa homocisteina i faktora koagulacije VIII u plazmi. Nasuprot tome, ispitivanje disfibrinogenemije, veoma retkog faktora rizika za trombofiliju, treba uzeti u razmatranje samo kod pacijenata kod kojih postoje dokazi o porodi~noj ili rekurentnoj trombozi uz odsustvo svih navedenih faktora rizika. U ovom trenutku, ispitivanje trombofilije se ne preporu~uje za ostale potencijalne nasledne ili ste~ene faktore rizika, ~ija povezanost sa pove}anim rizikom za trombozu jo{ nije nedvosmisleno dokazana. Kako bi se obezbedila klini~ka relevantnost testiranja i izbeglo pogre{no tuma~enje rezultata, laboratorijsko ispitivanje trombofilije trebalo bi uvek vr{iti u skladu s preporukama za testiranje koje se odnose na pa`ljiv odabir pacijenata, vreme testiranja i testove i metode koji se koriste. Cilj ovog preglednog ~lanka je da se ukratko predstave najva`niji aspekti testiranja trombofilije, izme|u ostalog, koga i kada testirati, koje testove i metode upotrebiti i koje sve varijable treba uzeti u obzir prilikom laboratorijskog ispitivanja trombofilije.Klju~ne rije~i...