- Congenital haptoglobin deficiency discovered on the occasion of anaphylaxis induced by platelet concentrate transfusion. [Journal Article]
- RKRinsho Ketsueki 2016; 57(12):2507-2511
- A 77-year-old man with myelodysplastic syndrome suffered from duodenal perforation after undergoing endoscopic submucosal dissection (ESD) for treatment of duodenal cancer. He presented with hemorrha...
A 77-year-old man with myelodysplastic syndrome suffered from duodenal perforation after undergoing endoscopic submucosal dissection (ESD) for treatment of duodenal cancer. He presented with hemorrhagic shock, peritonitis and disseminated intravascular coagulation (DIC), and received transfusions of red blood cells (RBC), fresh frozen plasma (FFP), γ-globulin and albumin (Alb). One month after the last RBC transfusion, prolonged thrombocytopenia was observed, and platelet concentrate (PC) was transfused. However, immediately after starting PC transfusion, he developed dyspnea, hypotension and rash, and was thus diagnosed as being in anaphylactic shock. Analysis of the patient's serum revealed absence of haptoglobin (Hp) and the presence of anti-Hp antibody. Further studies, using PCR detected Hp(del), yielded a diagnosis of congenital Hp deficiency. Thus, the anaphylactic shock was considered to have been induced by Hp in the transfused PC reacting with pre-existing anti-Hp antibodies. Thereafter, transfusions were safely carried out with the use of washed PC. Congenital Hp deficiency is relatively prevalent, and in such cases transfusions should be carried out using washed RBC, washed PC and congenital Hp deficiency donor derived FFP to avoid anaphylactic transfusion reactions. Transfusions would be even safer if production of congenital Hp deficiency donor derived PC were to be made available in the future.
- Procoagulant activity of extracellular vesicles as a potential biomarker for risk of thrombosis and DIC in patients with acute leukaemia. [Journal Article]
- JTJ Thromb Thrombolysis 2017 Jan 10
- Haemostatic complication is common for patients with hematologic malignancies. Recent studies suggest that the procoagulant activity (PCA) of extracellular vesicles (EV) may play a major role in veno...
Haemostatic complication is common for patients with hematologic malignancies. Recent studies suggest that the procoagulant activity (PCA) of extracellular vesicles (EV) may play a major role in venous thromboembolism and disseminated intravascular coagulation (DIC) in acute leukaemia. To study the impact of EVs from leukaemic patients on thrombin generation and to assess EV-PCA as a potential biomarker for thrombotic complications in patients with acute leukaemia. Blood samples from a cohort of patients with newly diagnosed acute leukaemia were obtained before treatment (D-0), 3 and 7 days after treatment (D-3 and D-7). Extracellular vesicles were isolated and concentrated by ultracentrifugation. EV-PCA was assessed by thrombin generation assay, and EV-associated tissue factor activity was measured using a commercial bio-immunoassay (Zymuphen MP-TF®). Of the 53 patients, 6 had increased EV-PCA at D-0 and 4 had a thrombotic event. Patients without thrombotic events (n = 47) had no elevated EV-PCA. One patient had increased EVs with procoagulant activity at D-3 and developed a DIC at D-5. This patient had no increased EVs-related tissue factor activity from D-0 to D-7 (<2 pg/ml). Eight patients had increased EVs with tissue factor activity (>2 pg/ml), of these, four had a thrombosis and two had haemorrhages. Procoagulant activity of extracellular vesicles could have a predictive value in excluding the risk of thrombotic events. Our findings also suggest a possible association between thrombotic events and EV-PCA.
- Newly recognized cerebral infarctions on postmortem imaging: a report of three cases with systemic infectious disease. [Journal Article]
- BMBMC Med Imaging 2017 Jan 10; 17(1):4
- CONCLUSIONS: Cerebral infarction that is newly recognized on PMI might suggest the presence of severe systemic infection.
- Spectrum of complex chromosomal aberrations in a myelodysplastic syndrome and a brief review. [Letter]
- JCJ Cancer Res Ther 2016 Jul-Sep; 12(3):1203-1206
- Myelodysplastic syndrome (MDS) is a heterogeneous premalignant condition characterized by cytopenia, ineffective hematopoiesis, dysplastic marrow, and risk of progression to acute myeloid leukemia. C...
Myelodysplastic syndrome (MDS) is a heterogeneous premalignant condition characterized by cytopenia, ineffective hematopoiesis, dysplastic marrow, and risk of progression to acute myeloid leukemia. Cytogenetic abnormalities, including del(3q/5q/7q/11q/12p/20q), monosomy 5/7, trisomy 8/19, i(17q), and -Y, are the indicators of diagnosis and risk stratification. The present case with bicytopenia detected with highly complex chromosome rearrangements with variability in numerical and structural combinations. Chromosome analysis was carried out following unstimulated marrow culture and G-banding. In addition to known MDS-aberrations, der(9p), der(12) dic(12;?19), +15, -18, and ring and marker chromosomes were recorded having, at least, nine abnormal chromosomes/cell. To our knowledge, this is the first case with all MDS-aberrations in one single individual. The case has been discussed in relevance to current MDS research. In the present case, i(17q)/-17, der(12p), del(5q26), del(7q36), and del(20q11) indicate possible alterations in TP53, ETV6, IDH2, EZH2, and SRSF2 genes, which are responsible for pathomechanism, genetic instability, clonal evolution, and advancement of disease condition.
- [Gene diagnosis of four patients with protein C deficiency]. [Journal Article]
- ZXZhonghua Xue Ye Xue Za Zhi 2016 Nov 14; 37(11):966-970
- Objective: To investigate the molecular etiology of protein C (PC) deficiency. Methods: Routine diagnosis and genetic analysis were performed on four probands with PC deficiency. Results: ①Case 1, fe...
Objective: To investigate the molecular etiology of protein C (PC) deficiency. Methods: Routine diagnosis and genetic analysis were performed on four probands with PC deficiency. Results: ①Case 1, female, 40 years old, diagnosed of deep vein thrombosis in left lower limb. PC activity (PC∶C) was 48%, PS activity (PS∶C) was 26.3%, AT activity (AT∶C) was 75.6%. Genetic analysis discovered heterozygous mutation C5156T on promoter of PC gene, together with heterozygous mutation A6578T on Exon2 of PC gene. After anticoagulant, thrombolysis and filter implantation therapies, the patient went home with improvement. ②Case 2, female, 32 years old, diagnosed of deep vein thrombosis in both lower limb, ischemia in both lower and upper limb, and skin infection in both lower limb. PC∶C 27%, PS∶C 22.9%, AT∶C 86.7%. Genetic analysis identified heterozygous mutation C5156T, together with heterozygous mutation A5045T on promoter of PC gene. After anticoagulant and anti-infection therapy, the patient died of respiratory failure, septic shock and DIC. ③Case 3, female, 28 years old, diagnosed of vein thrombosis in right iliac and femoral vein. PC∶C 58%, PS∶C 57.3% , AT∶C 80.8%. Genetic analysis disclosed heterozygous mutation C4867T on promoter of PC gene, AGA 12702-12704del or 12705-12707del on Exon7, the latter one lead to Arg192 or 193del. Heterozygous mutation G15240A on Exon9 was also found. After anticoagulant, thrombolysis and filter implantation therapies, the patient went home with improvement. ④Case 4, male, 30 years old, diagnosed of vein thrombosis in right iliac and femoral vein. PC∶C 50%, PS∶C 75.0%, AT∶C 89.1%. Genetic analysis found homozygous mutation C4867T and G4880A on promoter of PC gene, heterozygous mutation A5045T on promoter and heterozygous mutation T6589C on Exon2. After anticoagulant, thrombolysis and filter implantation therapies, the patient went home with improvement. ⑤ Polymorphism analysis revealed that heterozygous mutation C4867T, homozygous mutation G4880A, and heterozygous mutation C5156T were polymorphism sites of PC gene. Conclusions: Polymorphism sites (G4880A, C4867T, C5156T), missense mutation A5045T, A6578T, G15240A, and deletion mutation AGA12702-12704del, 12705-12707del may be related to deficiency of PC. Missense mutation A5045T, A6578T, G15240A, and deletion mutation AGA12702-12704, 12705-12707del were first reported worldwide.
- Hyperleukocytosis and leukostasis: management of a medical emergency. [Journal Article]
- ERExpert Rev Hematol 2016 Dec 26; :1-8
- Hyperleukocytosis is defined as a white blood cell count greater than 100,000/mL in patients affected by acute leukemia and often it is associated with increased morbidity and mortality, that can be ...
Hyperleukocytosis is defined as a white blood cell count greater than 100,000/mL in patients affected by acute leukemia and often it is associated with increased morbidity and mortality, that can be up to 40% if unrecognized. Areas covered: Risk factors include younger age, myelomonocytic or monocytic/monoblastic morphology, microgranular variant of acute promyelocitic leukemia and T-cell ALL, and some cytogenetic abnormalities. Poor prognosis due to high early death rate secondary to leukostasis. The mechanisms at the origin of leukostasis are still poorly understood. The management of acute hyperleukocytosis and leukostasis involves supportive measures and reducing the number of circulating leukemic blast cells, with careful monitoring of fluid balance, control of uric acid production and control of urine pH to prevent tumour lysis syndrome. Expert commentary: Several studies have been performed to ameliorate the outcome of this setting of patients. The high number of leukocytes may cause 3 main complications: disseminated intravascular coagulation (DIC), tumor lysis syndrome (TLS), and leukostasis. Although hyperleukocytosis and tumour lysis syndrome are still a challenge for clinicians, a better prognosis for these conditions is emerging in the last years.
- Favorable control of advanced colon adenocarcinoma with severe bone marrow metastasis: A case report. [Journal Article]
- MCMol Clin Oncol 2016; 5(5):579-582
- Colorectal cancer (CRC) has a propensity to metastasize to the liver, lungs and regional abdominal lymph nodes, but rarely to the bone marrow. A 60-year-old man presented to the National Hospital Org...
Colorectal cancer (CRC) has a propensity to metastasize to the liver, lungs and regional abdominal lymph nodes, but rarely to the bone marrow. A 60-year-old man presented to the National Hospital Organization Kyushu Cancer Center with a 4-week history of persistent lower back pain, anorexia and difficulty defecating. Complete blood count revealed severe thrombocytopenia and erythroblastosis, suggesting a hematological malignancy. However, the bone marrow examination demonstrated involvement by a moderately to poorly differentiated adenocarcinoma, but no hematopoietic abnormalities. A computed tomography scan revealed thickening of the wall of the sigmoid colon, with para-aortic, hilar, mediastinal and supraclavicular lymphadenopathy. The patient was thus diagnosed with sigmoid colon adenocarcinoma with lymph node and bone marrow metastasis. Modified FOLFOX6 was promptly initiated, with concurrent therapy for disseminated intravascular coagulation (DIC). An increased number of thrombocytes was observed on day 6. After 3 cycles of treatment, the patient recovered from DIC and the levels of serum carcinoembryonic antigen and cytokeratin 19 fragment were decreased. Tumor biopsy during colonoscopy following recovery from DIC demonstrated poorly differentiated adenocarcinoma with mucin production, without mutations in the RAS, BRAF or PIK3CA genes, and a cytokeratin (CK) 7-negative, CK20-positive phenotype. The patient has been treated with chemotherapy for 150 days without disease progression. However, the efficacy of chemotherapy for rarely encountered bone marrow metastasis from CRC is poor. The present case was favorably maintained on chemotherapy and survived for 10 months.
- Consensus on the standardization of terminology in thrombotic thrombocytopenic purpura and related thrombotic microangiopathies. [Journal Article]
- JTJ Thromb Haemost 2016 Nov 21
- CONCLUSIONS: The consensus aims to aid clinical decisions but also future studies and trials, utilizing standardized definitions. It presents classification of the causes of TMA, and criteria for clinical response, remission and relapse of congenital and immune mediated TTP. This article is protected by copyright. All rights reserved.
- Is protein C zymogen really ineffective for ALL cases of sepsis including septic DIC? [Letter]
- ICIntensive Care Med 2017; 43(1):152-153
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- Diagnosis and management of DIC complicated by hematological malignancies. [Journal Article]
- RKRinsho Ketsueki 2016; 57(10):2136-2144
- The clinical features noted in individuals with disseminated intravascular coagulation (DIC) complicated by hematological malignancies include life threatening hemorrhage that is associated with thro...
The clinical features noted in individuals with disseminated intravascular coagulation (DIC) complicated by hematological malignancies include life threatening hemorrhage that is associated with thrombocytopenia and consumptive deficiency of coagulation factors. Exacerbation of DIC after the initiation of chemotherapy is also related to fatal hemorrhage. The Japanese Society of Thrombosis and Hemostasis recently proposed provisional DIC diagnostic criteria allowing evaluation of hypercoagulable markers such as soluble fibrin and thrombin-antithrombin complex to help physicians to diagnose DIC and initiate treatment in the early phase of coagulopathy. A phase III clinical trial showed that human soluble recombinant thrombomodulin (rTM) more potently improved DIC than unfractionated heparin and was approved for treatment of DIC in 2008 in Japan. rTM exerts anti-inflammatory and cytoprotective actions and may improve clinical outcomes of DIC patients.