A family case series of inherited thrombocytopenia.

Inherited thrombocytopenia (IT) is a heterogeneous group of diseases with a genetic origin. The primary symptom presented by patients is a reduced platelet count in the peripheral blood. Nevertheless, certain forms of IT are characterized by the occurrence of other congenital malformations or predisposition to acquire additional diseases. Five related subjects with lifelong thrombocytopenia were admitted to our clinic. A total of 16 cases of persistent thrombocytopenia were investigated in the family history. Molecular and cytogenetic analysis covered MECOM, MPL, RUNX1, ETV6, and GATA1 genes, whose mutations are known to cause predisposing forms of IT. The laboratory testing revealed thrombocytopenia ranging from 19 to 65 × 109/L in the subjects. Mild bleeding symptoms were present in each of the subjects, while two of five had a history of severe hemorrhage requiring transfusion of blood products. Establishing a diagnosis of IT protects the patient from unnecessary treatment and enables the appropriate surveillance.

Type II endoleak accompanied by an arteriovenous fistula between the inferior mesenteric artery and the inferior vena cava as a complication of endovascular aneurysm repair.

Endovascular aneurysm repair (EVAR) has become one of the most important treatments for aortic abdominal aneurysm. This method has some possible complications, including a type II endoleak (T2E). When coexisting with arteriovenous fistulas (AVF), T2E can lead to serious hemodynamic consequences and organ failure. This report describes the management of a patient with T2E coexisting with AVF following an EVAR and re-EVAR procedure. Although T2E itself may be treated with a conservative approach in some cases, in the presented patient an operative approach was necessary because of coexisting AVF. In addition, due to unusual hemodynamic conditions created by concomitant ACF and T2E, fistula closure was obtained as a result of transarterial inferior mesenteric artery embolization. Post-EVAR imaging, including ultrasound and computed tomography angiography, has proven to be essential when caring for these patients.

Comparison of Different Rabbit Anti-Thymocyte Globulin Formulations in the Prophylaxis of Graft-Versus-Host Disease: A Systematic Review.

Allogeneic hematopoietic stem cell transplantation (allo-HCT) is a potentially curative treatment modality, frequently used for patients suffering from haematological malignancies. In the last two decades, there have been multiple randomised controlled trials (RCTs), review articles, and meta-analyses addressing the efficacy of rabbit anti-thymocyte globulin (r-ATG) as a graft-versus-host disease (GvHD) prophylaxis. Nevertheless, only a few aimed to compare the effectiveness of different r-ATG formulations. Since the last article we retrieved comparing different r-ATGs in GvHD prophylaxis dates back to 2017, we performed a systematic literature review of articles published since 2017 to this day, utilising PubMed, Scopus, Cochrane, and MEDLINE, with the main endpoints being prophylaxis of acute GvHD (aGvHD) and chronic GvHD (cGvHD). We subjected to scrutiny a total of five studies, of which four compared the differences between Thymoglobulin (ATG-T) and Grafalon (ATG-G), and one discussed the impact of ATG-T dose. Overall, cGvHD, aGvHD grades II-IV, TRM, OS, NRM, LFS, relapse, overall infections, and EBV reactivation do not seem to be affected by the type of utilised rATG. However, data on aGvHD grades III-IV, GRFS, moderate-severe cGvHD, and CMV reactivation is conflicting. Through our research, we sought to summarise the most recent findings concerning r-ATGs in allo-HCT, and provide insight into the differences between the targets and origin of various ATG formulations.

Myeloid Sarcoma as a Presentation of Acute Myeloid Leukemia and Blastic Phase in the Course of Chronic Myeloid Leukemia: A Case Report and Literature Review.

BACKGROUND: Myeloid sarcoma (MS), also known as granulocytic sarcoma or chloroma, is a rare disease entity characterized by the emergence of an extramedullary tumor, which may be antecedent, coexisting, or manifest secondarily to an ongoing malignancy of lymphoid origin. Owing to its low prevalence, scientific reports addressing this matter comprise mainly retrospective studies with a limited number of participants, rather low-quality research, and only few case reports. Despite MS's rarity, the need for enhancing their diagnostic tools and refinement of their therapeutic regimens is broadly recognized among physicians. CASE SUMMARY: In this case series, we present the clinical histories of two patients diagnosed with MS. The former (Case 1) exhibited MS of the sternum alongside chronic myeloid leukemia (CML), while in case of the latter (Case 2) MS presented as the initial manifestation of a current acute myeloid leukemia (AML). Treatment for both patients included chemotherapy (CHTH) and radiation (RT); however, patient 1 with CML died due to cardiorespiratory insufficiency secondary to an infection, while patient 2 is in clinical remission (CR) for 16 months since their MS diagnosis. Furthermore, a comprehensive analysis of previously reported cases was conducted which incorporated MS in patients with AML and CML. CONCLUSION: The objective of this report was to emphasize the heterogeneity among the clinical manifestations of MS, to underline the relevance of the histopathological and molecular diagnostic tools in opting for the appropriate therapy, and that, in spite of it occurring rather uncommonly, physicians should think of MS in the presence of pathological masses in patients under risk of hematological malignancies.

Evaluating the Impact of Post-Transplant Cyclophosphamide and Anti-Thymocyte Globulin on CMV Reactivation Following Allogeneic Hematopoietic Stem Cell Transplantation: A Systematic Literature Review.

Anti-thymocyte globulin (ATG) and post-transplantation cyclophosphamide (PTCy) are two frequently utilised strategies in graft-versus-host disease (GvHD) prophylaxis following allogeneic hematopoietic cell transplantation (allo-HCT), currently approved for different recipient-donor settings. In addition, being efficacious in preventing GvHD owing to their T-cell depleting capacity, the employment of these two agents increases the risk of infections, including CMV reactivation, which stands as one of the most common and serious infections following allo-HCT. We performed a systematic literature review of articles published until 1 September 2023, through PubMed, MEDLINE, and Scopus, with the main endpoint being CMV reactivation after PTCy or ATG allo-HCT. The majority of the studies included in the analysis provide supporting evidence for a reduced risk of CMV reactivations following the use of PTCy compared to ATG, although not all findings reached statistical significance. Additionally, it appears that utilising a haploidentical donor leads to a higher incidence of CMV infections and clinically significant CMV infections (CS-CMVis) compared to other donor settings in PTCy allo-HCT. This study aims to compare the risk of CMV infections following allo-HCT in patients who have received either ATG or PTCy as GvHD prophylaxis and discuss other factors that could influence the infectious outcomes of patients who have undergone allo-HCT.

First cases of alveolar echinococcosis in dogs in Poland.

Alveolar echinococcosis caused by Echinococcus multilocularis is common parasitic disease among humans and animals in the northern hemisphere. Dogs, foxes, and other wild canids are definitive hosts, whereas small rodents play the role of intermediate hosts. In rare cases, after incidental ingestion of tapeworm eggs, dogs can become an intermediate host. The study describes briefly two cases of alveolar echinococcosis in dogs in Poland, including clinical management, diagnostic, treatment and molecular confirmation. Diagnostic procedures included laparotomy, cytology, histopathology and molecular analysis. Obtained sequences data were 100% homologous to E. multilocularis dehydrogenase subunit 1 gene sequences in GenBank®. To the authors' knowledge, alveolar echinococcosis has not been reported previously in a dog in Poland.

Multistage Endovascular Management of a Thoracoabdominal Aortic Aneurysm in a Post-Heart Transplant Patient.

The development of aneurysms of thoracoabdominal aorta (TAAA) in a post-transplant patient is a rare clinical situation and requires special attention. Endovascular treatment is the most suitable option for these patients due to numerous comorbidities. Particular emphasis should be placed on the ejection fraction as one of the main criteria for qualifying for surgery. The treatment itself remains a major challenge relating to anatomical constrains; however, it is possible in select patients in experienced centers.

Novel Phenotyping for Acute Heart Failure-Unsupervised Machine Learning-Based Approach.

Acute heart failure (AHF) is a life-threatening, heterogeneous disease requiring urgent diagnosis and treatment. The clinical severity and medical procedures differ according to a complex interplay between the deterioration cause, underlying cardiac substrate, and comorbidities. This study aimed to analyze the natural phenotypic heterogeneity of the AHF population and evaluate the possibilities offered by clustering (unsupervised machine-learning technique) in a medical data assessment. We evaluated data from 381 AHF patients. Sixty-three clinical and biochemical features were assessed at the admission of the patients and were included in the analysis after the preprocessing. The K-medoids algorithm was implemented to create the clusters, and optimization, based on the Davies-Bouldin index, was used. The clustering was performed while blinded to the outcome. The outcome associations were evaluated using the Kaplan-Meier curves and Cox proportional-hazards regressions. The algorithm distinguished six clusters that differed significantly in 58 variables concerning i.e., etiology, clinical status, comorbidities, laboratory parameters and lifestyle factors. The clusters differed in terms of the one-year mortality (p = 0.002). Using the clustering techniques, we extracted six phenotypes from AHF patients with distinct clinical characteristics and outcomes. Our results can be valuable for future trial constructions and customized treatment.