Serious Venous Thromboembolism, Heterozygous Factor V Leiden and Prothrombin G20210A Mutations in a Patient with Klinefelter Syndrome and Type 2 Diabetes

Klinefelter's syndrome (KS) is a common cause of man infertility characterized by small testes, gynecomastia and hypogonadism. Deep vein thrombosis and thomboembolic events are frequent in these patients. Hormone imbalance and co-existent mutations in the coagulation system may be the primary factors in this hypercoagulable state. The increased thromboembolic risk in hypogonadic men has been explained by hypofibrinolysis due to androgen deficiency. Regarding the association between KS and congenital and acquired thrombophilias, to date, only three cases have been. Here, we present the youngest KS case with pulmonary thromboembolism with the heterozygous mutations in factor V Leiden and prothrombin genes, as detected by further tests. He had the previous diagnosis of diabetes mellitus and body mass index was 30 kg/m(2). Our report discusses the prothrombotic state in KS patients, with other possible causes for the young presentation and the importance of necessary tests in emergency service admissions with embolism

Nonsecretory Multiple Myeloma And Al Amyloidosis Presenting With Nephrotic Range Proteinuria

Nonsecretory multiple myeloma (NSMM) is the absence of a detectable monoclonal protein in serum and urine of a multiple myeloma (MM) patient and immunoglobulin light chain (AL) amyloidosis is a significantly rare complication. A case of NSMM with AL amyloidosis and nephrotic range proteinuria is presented. Sharing clinical, therapeutic, and prognostic characteristics with MM, real challenge may be during initial diagnosis of NSMM and assessment of treatment response. In elderly patients with unexplained renal dysfunction, MM should be in the differential diagnosis and the absence of a monoclonal protein should not rule out MM but should remind us of the possibility of NSMM

Czy istnieje związek między średnią objętością płytek krwi a zaawansowaniem choroby wieńcowej?

Background: Platelet activation and aggregation play key roles both in the pathogenesis of atherosclerosis and in the developmentof acute thrombotic events. Platelet volume is a marker of platelet activation and function, and is measured usingmean platelet volume (MPV).Aim: To determine the relationship between MPV and angiographic Gensini and SYNTAX scores, which give information about the severity and complexity of coronary artery disease (CAD).Methods: This study included 435 consecutive patients undergoing elective coronary angiography. The complete blood countand biochemical examination of blood were obtained after 12 h of fasting. The independent association between MPV andthe severity of CAD was statistically evaluated using PASW Statistics 18 for Windows.Results: Mean age of the study population was 58.4 ± 9.3 years, of whom 196 were female (45.1%) and 239 male (54.9%). Of the patients, 63.2% had CAD, 31.7% had diabetes mellitus, 61.8% had hypertension, 56.6% had hyperlipidaemia, and 38.6% were smokers. Mean Gensini score was 20.7 ± 31.1. According to Gensini scores, 160 of the patients (36.8%) hadnormal coronary arteries (Gensini score: 0), 134 of the patients (30.8%) had minimal CAD (Gensini score: 1–19), and 141 ofthem (32.4%) had severe CAD (Gensini score ≥ 20). Mean MPV values were 8.4 ± 1.0 fL in the group that had no CAD,8.7 ± 1.0 fL in the group with minimal CAD, and 9.3 ± 1.5 fL in the group with severe CAD. According to Spearman correlationanalysis, the positive relationship found between MPV and Gensini score was statistically significant (p < 0.001,r = 0.290). Likewise, SYNTAX score was also associated with MPV (p < 0.001, r = 0.504).Conclusions: We determined a positive correlation between MPV and Gensini and SYNTAX scores. Therefore, this simple haematology test can be used in determining cardiovascular disease burden besides other risk factors during routine clinical practice. For further information about this topic, large-scale studies are needed.Wstęp: Aktywacja i agregacja płytek krwi odgrywają istotną rolę w patogenezie miażdżycy, a także w rozwoju ostrych zdarzeń zakrzepowo-zatorowych. Objętość płytek krwi, opisywana jako średnia objetość płytek (MPV), jest wyznacznikiem aktywnościpłytek i ich funkcji.Cel: Celem badania było określenie zależności między MPV a wskaźnikiem Gensini i SYNTAX score, będącymi liczbową miarąstopnia zaawansowania choroby wieńcowej.Metody: Badanie przeprowadzono u 435 chorych, u których wykonano planową koronarografię. Krew do badań morfologicznychi biochemicznych pobrano na czczo (12 h od ostatniego posiłku). Niezależny związek między MPV i stopniem nasilenia choroby wieńcowej oceniono za pomocą programu PASW Statistics 18 dla systemu Windows.Wyniki: Średni wiek pacjentów wynosił 58,4 ± 9,3 roku; 196 (45,1%) osób stanowiły kobiety, a 239 (54,9%) mężczyźni. Wśród badanych u 63,2% zdiagnozowano chorobę wieńcową, u 31,7% — cukrzycę, u 61,8% — nadciśnienie tętnicze, a u 56,6% — hiperlipidemię. Wśród badanych 38,6% osób paliło tytoń. Średni wynik Gensini score był równy 20,7 ± 31,1. Według Gensini score 160 (36,8%) chorych miało prawidłowe tętnice wieńcowe (Gensini score: 0), u 134 (30,8%) pacjentów występowały minimalne oznaki choroby wieńcowej (Gensini score: 1–19), a u pozostałych 141 (32,4%) osób stwierdzono zaawansowaną chorobę wieńcową (Gensini score: ≥ 20). Wartości MPV u pacjentów bez choroby wieńcowej wynosiły średnio 8,4 ± 1,0 fl,w grupie z minimalnym zaawansowaniem choroby wieńcowej — 8,7 ± 1,0 fl, a w grupie z zaawansowaną chorobą wieńcową— 9,3 ± 1,5 fl. Analiza korelacji Spearmana pokazała pozytywny związek między MPV i Gensini score (p < 0,001;r = 0,290). Podobnie wynik SYNTAX score wiązał się z MPV (p < 0,001; r = 0,504).Wnioski: Stwierdzona dodatnia korelacja między Gensini i SYNTAX score a MPV wskazuje, że w rutynowej praktyce lekarskiej proste badanie hematologiczne można wykorzystać do oceny obciążenia chorobami układu sercowo-naczyniowego, opróczinnych czynników ryzyka. Aby potwierdzić tę zależność i uzyskać dodatkowe informacje, należy przeprowadzić badanie w większej grupie chorych

Evaluation of 143 Cases of Immune Thrombocytopenic Purpura With Regards to Clinical Course and Response to Treatment

Objective: Immune thrombocytopenic purpura (ITP) is also known as idiopathic thrombocytopenic purpura. Increased platelet destruction and insufficient platelet production are both responsible for its etiopathogenesis. ITP can be diagnosed after excluding other possible causes of thrombocytopenia. Materials and Methods: One hundred forty-three cases of chronic ITP that were monitored in a hematology clinic were retrospectively evaluated. All cases received first line treatment of 1 mg/kg/day prednisolone. Corticosteroid nonresponsive (CN) cases and corticosteroid- dependent (CD) cases underwent splenectomies. Results: The rate of CN/CD cases was found to be 53% (n=76). Sixty-six percent of these cases (n=50) underwent splenectomies. The ratio of non-responsive cases to relapse cases after splenectomy (SN/SR) was 30% (n=15). The total number of cases was 41, including those without splenectomy (n=26) and with SY/SR (n=15). Helicobacter pylori (Hp) eradication, immunosuppressive agents and danazol treatments were administered to patients (n=10, n=14 and n=4, respectively). Currently, 13 patients are being monitored without treatment. Fifteen patients who were non-responsive to Hp eradication treatment, immunosuppressive treatment or danazol treatment are still being monitored without any treatment. Conclusion: Optimal treatment is not available for splenectomy-resistant cases of ITP. The response rates for Hp eradication treatment, immunosuppressive treatments and anabolic agents are low. Therefore, larger studies with more patients are required using new agents, such as thrombopoietin (TPO) receptor agonists and anti-CD20 monoclonal antibodies

Ibrutinib as a promising treatment for pulmonary complications due to refractory chronic graft versus host disease

Introduction: Despite major improvements in allogeneic hematopoetic stem cell transplantation form matched related/ unrelated donor over last decades, chronic graft-versus-host disease (cGVHD) is still the leading cause of late treatmentrelated deaths among recipients. Ibrutinib is a first class inhibitor of BTK was recently employed in corticosteroid-refractory chronic GVHD with encouraging overall response rates Herein, we share a real-life experience using ibrutinib in the treatment of steroid-refractory cGVHD. Patients and Methods This multicenter retrospective study conducted in 10 different stem cell transplant centers included 44 adult patients diagnosed with steroid-refractory cGVHD. We treated off-label these patients from June 2017 to July 2019 with ibrutinib with a dose of 420 mg. Organ sites affected and cGVHD grading were classified according to the NIH 2014 criteria. Results Patients had undergone both myeloablative and non-myeloablative Allo-SCT for a variety of underlying hematological malignancies. As expected mouth and skin were the most frequently involved organs and 67 % of patients showed evidence of cGVHD in more than two organs. The median Karnofsky Performance Status score was 65%. At a median follow-up of 22.3 months (range 7.1-109 months) after evidence of cGVHD showed, 36 (81.8%) patients were still receiving ibrutinib and 4 (9.1%) had discontinued treatment, because of cGVHD progression. Treatment duration ranged from 2 to 12 months (median 6 months) for all patients. Only three patients had grade 2 muscle spasm, arrhythmia and diarrhea as adverse events and need to reduce the 25% of drug dosage. No several adverse events due to ibrutinib were observed in our cohort. In the all treated population, based on the 2005 NIH cGVHD Consensus Panel response criteria, 45.5% PR and 20.5% CR were achieved. Six patients had progression on manifestations of cGVHD. For the responders, the median time to initial response was 28 days. Nine patients had stable disease under the ibrutinib treatment and still continue receiving. Analysis by organ domain showed similar rates of response in the lung (76.4%) skin (66.7%), and GIS (57.1%). However the response in the liver (54.2%) was lower than the others. Out of 17 patients with bronchiolitis obliterans as a manifestation of cGVHD, we observed an immediate improvement in stability of FEV1 decline that persisted over the study period despite the decreased steroid dosing in 13 patients, 3 patients had stable FEV1 and only 1 patient had reduction in FEV1. Discussion Our study suggests that ibrutinib is a safe and effective agent that reduces steroid requirements and stabilizes lung function in patients with bronchiolitis obliterans as a manifestation of cGVHD. Our study adds to a growing body of evidence for ibrutinib's use in cGVHD. It is important to note that, larger prospective studies are needed to verify and augment our findings.American Society for Transplantation & Cellular TherapyCIBMT