Search Results (8)

Inherited platelet disorders (IPDs) are rare bleeding disorders characterized by impaired platelet function and/or reduced blood platelet count. Their diagnosis typically relies on complex laboratory methods, including flow cytometry, aggregometry, and molecular genetic analysis. In recent years, immunofluorescence microscopy has been established as an alternative diagnostic method for IPDs. Background/Objectives: This study aims to validate a quantitative approach enhancing reproducibility through automated image analysis for diagnosing IPDs using immunofluorescence microscopy, with Bernard–Soulier Syndrome (BSS) and Glanzmann thrombasthenia (GT) as model IPDs. Methods: Native blood smears from patients with suspected BSS or GT were stained using a standardized immunofluorescence protocol targeting platelet surface glycoproteins, granules, and cytoskeletal components. The slides were analyzed using an automated fluorescence microscope, and a rule-based subpopulation analysis was implemented to quantify fluorescence signals. The results were compared to those of a healthy control group, as well as data from flow cytometry and molecular genetic testing. Results: The automated analysis successfully differentiated BSS and GT patients from healthy controls based on distinct fluorescence signal patterns. In BSS samples, CD42b (GPIbα) expression was absent or severely reduced, while GT samples showed a deficiency of CD41/CD61 (GPIIb/IIIa). The platelet size distribution confirmed macrothrombocytopenia in BSS patients. Flow cytometry and molecular genetic testing corroborated these findings, supporting the diagnostic reliability of the automated immunofluorescence microscopy approach. Conclusions: This proof-of-principle study demonstrates that automated quantitative immunofluorescence microscopy is a viable alternative for diagnosing IPDs, offering a standardized, objective, and efficient method, particularly in settings where flow cytometry is not feasible. Full article

Background/Objectives: Patients with hematologic malignancy (HM) often experience high rates of thrombocytopenia, thrombocytopathy, anemia, leukopenia, and coagulopathy, which can significantly increase the risk of procedural and postoperative complications. This study aimed to evaluate the safety and outcomes of percutaneous dilatational tracheostomy (PDT) in critically ill patients with HM. Methods: This retrospective cohort study included patients with HM who underwent PDT between 2012 and 2023 at a tertiary academic center. The primary outcome was early (7-day) bleeding complications rate. Secondary outcomes included PDT-related mortality, and mortality at 1 week, 30 days, and 1 year. Analyses were performed using a propensity-matched cohort to ensure balanced comparisons between groups. Results: Of the 1627 patients included in the analysis, 65 (4%) had HM. Patients with HM had a significantly higher Charlson comorbidity index and exhibited significantly higher rates of thrombocytopenia (platelet count < 100,000/mcL) compared to those without HM (8.0 [IQR 5.0–11.3] vs. 5.0 [IQR 2.0–7.0], p < 0.001; and 49.2% vs. 5.0%, p < 0.001, respectively). After propensity score matching, the one-week mortality rate was significantly higher in the HM group (23.4% vs. 4.3%, p = 0.007). However, the rates of intraoperative and bleeding complications as well as one-year mortality rates were similar between the groups. Conclusions: PDT can be safely performed in critically ill patients with HM. However, these patients exhibit high early mortality rates following the procedure. Full article

Gaucher disease is an inherited disorder in which there is a deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of glucosylceramide. Although much scientific evidence is now available, there is still limited data on the impact on the different life stages of women with this disease. Among other alterations, a delay in menarche has been described, although it has not been related to fertility problems. Menorrhagia is relatively frequent, being related to the presence of thrombocytopenia, thrombocytopathies or coagulation disorders. On the other hand, pregnancy planning is an increasingly frequent concern. All patients should undergo genetic counseling, and it is important to monitor the appearance or worsening of organomegaly, bone and hematologic abnormalities to establish clinical and therapeutic recommendations. Management during the puerperium will depend on the evolution of gestation, and, during the lactation period, the potential appearance of bone complications should be assessed. An early onset of menopause, compared to the general population, has also been described, which may accelerate the development of osteopenia. Finally, although the usual screening protocols for neoplasms are currently being performed, it is recommended to watch for early signs of liver or renal neoplasms when examining the results of imaging tests performed during evaluations for this disease. Full article

Haemostasis disorders are serious pathologies that could put dental and surgical procedures at risk as they are associated with postoperative bleeding, which in some circumstances could be prolonged and dangerous for the patient. In-depth knowledge of the problems associated with coagulation pathologies and the suitable specific procedures should be implemented in dental practice. A good awareness of the clinical protocols to be used in these circumstances may help reduce operator stress and increase patient compliance. Collaboration with the haematologist is always recommended to establish an adequate treatment plan, both regarding the administration of therapies that promote haemostasis and for assessing the operative risk. Hereby, we summarize the congenital and hereditary pathologies that lead to haemostasis disorders, which can be found in patients undergoing dental procedures. The purpose of this narrative review is to frame the diseases from a clinical, anamnestic, and etiopathological standpoint, as well as to evaluate an operative approach to the pathology under consideration, with particular attention to anaesthesia manoeuvres and post-surgical haemostasis, to avoid hematoma formation and uncontrolled bleeding which can lead procedure failure up and even death. Of note, it is likewise important to educate the patient about prevention, to keep the oral cavity healthy and avoid invasive procedures, limiting the number of operative sessions. Full article

Besides their function in primary hemostasis, platelets are critically involved in the physiological steps leading to wound healing and tissue repair. For this purpose, platelets have a complex set of receptors allowing the recognition, binding, and manipulation of extracellular structures and the detection of pathogens and tissue damage. Intracellular vesicles contain a huge set of mediators that can be released to the extracellular space to coordinate the action of platelets as other cell types for tissue repair. Therapeutically, the most frequent use of platelets is the intravenous application of platelet concentrates in case of thrombocytopenia or thrombocytopathy. However, there is increasing evidence that the local application of platelet-rich concentrates and platelet-rich fibrin can improve wound healing and tissue repair in various settings in medicine and dentistry. For the therapeutic use of platelets in wound healing, several preparations are available in clinical practice. In the present study we discuss the physiology and the cellular mechanisms of platelets in hemostasis and wound repair, the methods used for the preparation of platelet-rich concentrates and platelet-rich fibrin, and highlight some examples of the therapeutic use in medicine and dentistry. Full article

Platelets are active key players in haemostasis. Qualitative platelet dysfunctions result in thrombocytopathies variously characterized by defects of their adhesive and procoagulant activation endpoints. In this review, we summarize the traditional platelet defects in adhesion, secretion, and aggregation. In addition, we review the current knowledge about procoagulant platelets, focusing on their role in bleeding or thrombotic pathologies and their pharmaceutical modulation. Procoagulant activity is an important feature of platelet activation, which should be specifically evaluated during the investigation of a suspected thrombocytopathy. Full article

Thrombocytopenia, which signifies a low platelet count usually below 150 × 10⁹/L, is a common finding following or during many viral infections. In clinical medicine, mild thrombocytopenia, combined with lymphopenia in a patient with signs and symptoms of an infectious disease, raises the suspicion of a viral infection. This phenomenon is classically attributed to platelet consumption due to inflammation-induced coagulation, sequestration from the circulation by phagocytosis and hypersplenism, and impaired platelet production due to defective megakaryopoiesis or cytokine-induced myelosuppression. All these mechanisms, while plausible and supported by substantial evidence, regard platelets as passive bystanders during viral infection. However, platelets are increasingly recognized as active players in the (antiviral) immune response and have been shown to interact with cells of the innate and adaptive immune system as well as directly with viruses. These findings can be of interest both for understanding the pathogenesis of viral infectious diseases and predicting outcome. In this review, we will summarize and discuss the literature currently available on various mechanisms within the relationship between thrombocytopenia and virus infections. Full article

An 11-year-old American boy was staying with his family in Indonesia. He presented with a 5-month history of recurrent bruises and ecchymosis. A clinical diagnosis of acquired platelet dysfunction with eosinophilia was made when his full blood counts showed hypereosinophilia (7.4 × 10⁹/L) with normal platelet count and gray platelets under the microscope. The diagnosis was supported by abnormal platelet aggregation tests consistent with a storage pool disorder. The bleeding symptoms and eosinophilia resolved a month later with a full course of antihelminthic therapy. Hematologists should be aware of this unusual disease in travelers returning from the Southeast Asia. Full article