Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.4.21.6 (thromboplastin)
 13,278 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Protein Z is a vitamin-K-dependent plasma glycoprotein synthesized by the liver, showing great structural similarity to other vitamin-K-dependent coagulation factors such as factors II, IX, X and protein C and S. Protein Z seems to assist haemostasis by binding thrombin and promoting its association with phospholipid surfaces, and it downregulates coagulation by forming a complex with the plasma protein-Z-dependent protease inhibitor, which inhibits activated factor Xa. Studies in patients with a bleeding tendency of unknown origin during and after surgery displayed diminished protein-Z-concentrations in about 50 % of the patients with recurrent bleeding. We report about a 19 year old patient, who suffers from a posttraumatic paraplegia subTh 8 since childhood. In 1998 a correction operation in order to reduce scoliosis with restrictive ventilatory defects had to be stopped before successful spondylodesis because of massive bleeding. After a second intraoperative bleeding incident and exclusion of other more frequent thrombocytic or plasmatic causes of hypocoagulability protein-Z-deficiency finally was diagnosed. Under substitution of protein-Z using PPSB (Beriplex P/N) a repeatedly postponed implantation of a sphincter-externus (Brindley-) stimulator could be performed without bleeding complications in 2001, and this was also true for two other urological interventions in 2002. This report about repeated life-threatening intraoperative bleeding in a patient with protein-Z-deficiency, which could be successfully counteracted using selected plasma concentrates with guaranteed protein-Z-amounts, underlines the importance of protein-Z-assessment in some rare cases of bleeding tendency of "unknown origin" and documents the preventive plasma Protein-Z-levels achieved with the substitution of PPSB.
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PMID:[Protein-z-deficiency as a rare case of perioperative bleeding]. 1297 41

The patient was a 36-year-old man who had been aware of a mild bleeding tendency since childhood, but did not show any history of severe bleeding. After lumbar epidural block was performed for pain caused by lumbar disc herniation, the patient developed paraplegia due to an acute epidural hematoma, and rectovesical disorder. He was admitted to our hospital, and wide fenestration and hematoma evacuation were performed. Because of persistent bleeding, reoperation was performed to achieve hemostasis. Although factor VIII antigen was 138%, its activity was decreased to 18% of normal. A diagnosis of cross-reacting material positive mild hemophilia A was made. Postoperative injection of a factor VIII preparation resulted in complete hemostasis. The activated partial thromboplastin time was within normal range. A thrombin generation test showed reduced endogenous thrombin potential, peak thrombin levels, and prolonged time-to-peak levels. The thrombin generation test, which allows comprehensive assessment of the coagulation profile, was useful for diagnosis and treatment of this case.
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PMID:[Mild hemophilia A diagnosed at the onset of acute epidural hematoma after lumbar epidural block]. 2140 28

Spontaneous spinal subdural hematomas are extremely rare. Most spinal hematomas are discovered in the epidural space. In the majority of cases, spontaneous hematomas are idiopathic. However, when attributed to anticoagulation therapy coumarins are more common than direct factor Xa inhibitors such as apixaban. Previous reports have linked direct factor Xa inhibitors with intracranial subdural hematomas much more frequently than spinal subdural hematomas. The manifestation of severe neurological deficits, such as sensorimotor disturbances and loss of sphincter control, is common and is considered a surgical emergency. The present case consists of a patient with a spontaneous spinal thoracic subdural hematoma secondary to apixaban use with loss of sphincter control and paraplegia. After 6 months of follow-up, the patient recovered completely.
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PMID:Spontaneous thoracic spinal subdural hematoma associated with apixaban therapy. 3104 59

Double-hit lymphomas (DHLs) are aggressive mature B-cell neoplasms associated with rearrangements involving MYC and B-cell lymphoma-2 (BCL-2). Such DH events are extremely rare in B-cell precursor acute lymphoblastic leukemia (B-ALL), especially in young adults. A 29-year-old male patient initially presented to emergency department with right mandibular mass of 2 months duration associated with intermittent fever. Laboratory workup revealed very high lactate dehydrogenase at 2,026.0 U/L. Peripheral blood revealed pancytopenia with many circulating blasts (about 77%). Bone marrow (BM) aspirate revealed infiltration with many small sized blasts of very high nucleocytoplasmic ratio, finely dispersed nuclear chromatin and prominent nucleoli. The BM biopsy reflected marked hypercellularity with diffuse replacement by sheets of blasts, positive for TdT, PAX-5, CD10, cMYC, BCL-2 and CD20 with Ki-67 > 90%. Flow cytometry on BM revealed a precursor B-immunophenotype (CD45 (dim), CD19, CD10, Tdt and CD20). The blasts are negative for cytoplasmic and surface IgM. Cytogenetics revealed complex karyotype: 46,XY,del(6)(q21q23),t(8;22)(q24.1;q11.2),t(14;18)(q32;q21)(20). A diagnosis of B-lymphoblastic leukemia/lymphoma with t(8;22)(q24.1;q11.2) and t(14;18)(q32;q21) was made. Fluorescent in situ hybridization (FISH) analysis revealed an abnormal hybridization signal pattern for CDKN2A probe, indicating biallelic (homozygous) deletion of the short arm of chromosome 9 (9p) in 94% of the cells analyzed. The patient had severe life-threatening bleeding despite of normal prothrombin time (PT) and activated partial thromboplastin time (APTT) due to acquired factor XIII deficiency, an overlooked rare coagulopathy disorder. In addition, the patient developed acute sudden onset paraplegia, and magnetic resonance imaging (MRI) of spine showed acute cord compression which necessitated emergency radiotherapy after which chemotherapy was started on hyper-CVAD (hyperfractionated cyclophosphamide, vincristine, adriamycin, and dexamethasone) protocol. MRI showed dramatic resolution of the mass. Very few cases of B-ALL with DH rearrangement with true precursor B-cell phenotype (positivity for TdT with negativity for surface light chain) have been reported. Many of these had frequent central nervous system (CNS) involvement, with complex karyotypes, highly aggressive course, with short survival of less than 1 year. This case however showed very good response to treatment. In contrary to DHL, de novo B-ALL with double-hit rearrangements is more prevalent in pediatrics and young adults. Although most of reported cases represent transformation of follicular lymphoma, our patient's young age, acute onset and absent lymphadenopathies all support de novo ALL.
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PMID:De Novo Precursor B-Lymphoblastic Leukemia/Lymphoma With Double-Hit Gene Rearrangements (MYC/BCL-2) Presented With Spinal Cord Compression and Acquired Factor XIII Deficiency. 3230 Mar 95