Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002874 (aplastic anemia)
 5,905 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Therapies and prognoses covering fifteen cases of intracranial hematoma (ICrH) accompanying various types of bleeding tendency (BTD) were studied along with a secondary analysis of the pertinent references. Fifteen cases were divided into two groups, Group A comprising 11 cases of ICrH accompanying primary BTD, and Group B comprising four cases of ICrH accompanying secondary BTD caused by various underlying diseases. Group A included four cases of hemophilia A (Hp-A), two cases of factor XIII deficiency (FXIII-d), three cases of thrombocytopenia (Th-p) and two cases of vitamin K deficiency (VK-d). The four cases of Hp-A responded favorably, with good prognoses, to a supplementary therapy alone. This result was endorsed by the development of therapy as documented in the references. The combined five cases of FXIII-d and Th-p tended without exception, to show good prognoses in the wake of a combination therapy of supplementary treatment and surgical procedure. As regards FXIII-d, there was an inter-reference difference in supplementary doses. Many references shared the view that splenectomy was essential to the treatment of Th-p in general, and idiopathic thrombocytopenic purpura in particular. The current study also suggested that gammaglobulin in large doses would serve as an effective therapy. The two cases of VK-d suffered from a serious degree of lingering neurologic manifestations, although their lives were saved. Even though there is an established therapy for it, VK-d was found to be a problem with poor functional prognosis showing the importance of the preventive approach. Group B was classified into the acute type and the subacute type depending on the rate of pathologic development. As underlying diseases DIC and myelofibrosis due to acute myeloblastic leukemia, and Th-p due to aplastic anemia were noted in two cases in each group. Of these, two cases of the subacute type were able to be saved, while two cases of the acute type followed poor prognostic courses resulting, eventually, in death. The following were found to be responsible fatal factors: 1) causes of BTD which involved both mechanisms of coagulation and hemostasis, 2) non-removal of the underlying disease, in which case supplementary therapy tended to be futile, and 3) the underlying disease per se as a danger to the life of the patient. In conclusion, therapeutic rationale and prognosis in ICrH accompanying primary type of BTD will benefit from the implementation of an adequate augmentative therapy as in the ordinary type of ICrH.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[Intracranial hematoma accompanying bleeding tendency: therapeutic practice and analysis of literature]. 220 82

We tested an in vitro system simulating bleeding time reported by Kratzer et al. Primary hemostasis was studied perfusing an artificial vessel with citrated blood under a constant pressure of 40 mmHg, measuring the blood volume perfused (bleeding volume) and the time until blood flow stopped (bleeding time). The artificial vessel consists of a glass capillary simulating arteriole and a filter covered with collagen type I to provide a surface for the adhesion of platelets. The bleeding volume (mean +/- SD microliters) was 317.7 +/- 93.8 in controls (n = 19), 487.3 +/- 242.1 in idiopathic thrombocytopenic purpura (n = 9), 666.8 +/- 224.1 in aplastic anemia and paroxysmal nocturnal hemoglobinuria (n = 4), greater than 820 in von Willebrand's disease (n = 3), 231.0 +/- 74.5 in hemophilia A (n = 3), 499.0 +/- 269.4 in liver cirrhosis (n = 6), and 457.7 +/- 229.0 in myeloproliferative disorders (n = 11). When citrated blood was applied to this system after incubation with monoclonal antibodies (MoAb) to von Willebrand factor or platelet membrane glycoprotein Ib (GPIb), bleeding volume was significantly increased while no effects were observed after incubation with MoAb to GPIIb/IIIa, factor VIII: CAg and factor XIIIa. These data suggest that in vitro model of primary hemostasis could be used for not only diagnosing bleeding disorders although 'time' is not reliable, but also investigating the mechanisms of hemostasis.
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PMID:[Bleeding time and volume in vitro by THROMBOSTAT]. 231 3

After clinical assessment, pertinent history, and family history, the clinician often has a good idea concerning the cause of a patient's bleeding. The most appropriate laboratory tests can then be ordered. Routine screening tests include a complete blood cell count, platelet count, and evaluation of a peripheral blood sample, a prothrombin time, and an activated partial thromboplastin time. Thrombocytopenia may result from idiopathic thrombocytopenic purpura, disseminated intravascular coagulation, or, less commonly, acute leukemia, aplastic anemia, thrombotic thrombocytopenic purpura, or a particular drug that a patient is taking. Again, the patient's history, physical findings, and evaluation of a well-prepared peripheral blood smear will be helpful in determining the cause of the patient's thrombocytopenia. An isolated prolongation of the activated partial thromboplastin time may result from low levels of factors VIII, IX, or XI. A slightly prolonged activated partial thromboplastin time and a moderate decrease in factor VIII may reflect von Willebrand disease or the "carrier" state for hemophilia A. In women a greatly prolonged activated partial thromboplastin time and very low levels of factor VIII (< 3%) most often result from an acquired factor VIII inhibitor (autoantibody against factor VIII) or from severe (type III) von Willebrand disease. If von Willebrand disease is suspected (because of menorrhagia with or without other mucous membrane bleeding, a positive family history, and a prolonged activated partial thromboplastin time), more specific laboratory tests for this disease should be done. These include assays of factor VIII, von Willebrand factor antigen, von Willebrand factor activity (measured by the ristocetin cofactor assay), and template bleeding time. In von Willebrand disease the defect is in von Willebrand factor. The affected individual may have subnormal levels of structurally and functionally normal von Willebrand factor (this is called "classic" or type I von Willebrand disease) or may produce von Willebrand factor that is structurally and functionally abnormal (von Willebrand disease type 2). Individuals who inherit a gene for von Willebrand disease from both parents have severe (type 3) von Willebrand disease and will have extremely low levels (< 3%) of von Willebrand factor and factor VIII and will have a very prolonged bleeding time. In most populations type I disease is the most common form, whereas type 3 is the least commonly encountered form. It should be noted that levels of von Willebrand factor can be influenced by the patient's blood type (persons who have blood type AB have 60% to 70% higher levels than do persons who have blood type O) and can be elevated during pregnancy, stress, and hyperthyroidism. The two major functions of von Willebrand factor are to serve as a "bridge" between platelets and injury sites in blood vessel walls and to protect circulating factor VIII from rapid proteolytic degradation. Thus, if a patient has either too little or functionally abnormal von Willebrand factor, the bleeding time will be prolonged and factor VIII will be decreased (because it is not being protected by von Willebrand factor). It should be determined which type of von Willebrand disease a particular patient has because treatment depends on type. Multimeric analysis of von Willebrand factor can be done with use of sodium dodecyl sulfate gels, radiolabeled antibody to von Willebrand's factor, and autoradiography. This will allow visualization of the multimeric structure of von Willebrand factor. In type I disease all bands are present, whereas in the type 2 variants 2A and 2B no high-molecular-weight multimers are seen. Desmopressin acetate (which is available in parenteral form for intravenous use and in a highly concentrated intranasal spray formulation) is the treatment of choice for classic type I disease. The drug effects a rapid release of von Willebrand factor from endothelial cell stor
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PMID:Screening and diagnosis of coagulation disorders. 882 61

Specific features of dilatation tracheostomy (DTS) were studied in 45 patients with hemorrhagic syndrome; 37 of them had thrombocytopenia; 6 patients had thrombocytopenia and disseminated intravascular coagulation (DIC); and 2 patients had congenital coagulopathy. Besides, there were patients, among the examined ones, with hemoblastosis (36), with idiopathic thrombocytopenic purpura (1), with aplastic anemia (1), with HELLP-syndrome (1), with diabetes mellitus (1), with rheumatoid arthritis, with stomach cancer (2) and with hemophilia A (2). Commercial sets were made use of for DTS ("Portex"). DTS can be safely made provided the blood platelets' level is not below 40-50 x 10(9), and the time of bleeding is below 3 min; in hemophilia, the procedure is possible after the administration factor's preparations; and in DIC--after plasma transfusion and after ensuring the normal coagulation. Obturation of lumens of the trachea and bronchi with blood grumes is an often complication in DTS, which makes it necessary to make bronchoscopy immediately after DTS.
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PMID:[Dilatation tracheostomy in patients with hemorrhagic syndrome]. 1291 1

A 13-month-old boy with mild hemophilia A presented for strabismus evaluation and was found to have retinal hemorrhages in the right eye, left exotropia, and left total retinal detachment. These findings were attributed to trauma and hemophilia A. Routine blood work for hemophilia A subsequently showed pancytopenia. A bone marrow aspirate showed marked hypocellularity consistent with severe aplastic anemia, and telomere testing revealed very short telomeres. The patient was found to have a TINF2 mutation consistent with a diagnosis of Revesz syndrome, a variant of dyskeratosis congenita. He underwent successful bone marrow transplantation, and on subsequent evaluation was found to have retinal hemorrhages, vessel sclerosis, and cotton wool spots in the right eye associated with peripheral retinal nonperfusion. He underwent retinal laser treatment to the areas of retinal nonperfusion which resulted in stable visual function.
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PMID:Revesz syndrome masquerading as traumatic retinal detachment. 2886 69

OBJECTIVE The aim of this study was to assess the outcome of neurosurgical treatment in children with bleeding diathesis and also to evaluate the current management plan applied in the authors' service. METHODS The authors retrospectively analyzed all cases in which neurosurgical procedures were performed in pediatric patients presenting with intracranial hematoma due to an underlying bleeding tendency over a 5-year period at their institution. They evaluated the patients' neurological symptoms from the initial referral, hematological abnormalities, surgical treatment, neurological outcome, and scores on the Pediatric Glasgow Outcome Scale-Extended (GOS-E Peds) obtained 1 year after the last operation. RESULTS Five patients with a bleeding diathesis who underwent surgery for intracranial hematoma were identified; the diagnosis was hemophilia A in 3 cases, idiopathic thrombocytopenic purpura in 1 case, and severe aplastic anemia in 1 case. Intracerebral hematoma (ICH) (n = 4) and acute subdural hematoma (n = 1) were confirmed on radiological investigations. In 2 of the 4 patients with ICH, the diagnosis of bleeding diathesis was made for the first time on presentation. Four patients (all male) were younger than 2 years; the patient with severe aplastic anemia and spontaneous ICH was 15 years old and female. The duration of symptoms varied from 24 hours to 5 days. Neurological examination at 1 year's follow-up showed complete recovery (GOS-E Peds score of 1) in 3 cases and mild weakness (GOS-E Peds score of 2) in 2 cases. CONCLUSIONS Neurosurgical management of patients with bleeding diathesis should be carried out in a tertiary-care setting with multidisciplinary team management, including members with expertise in neuroimaging and hematology, in addition to neurosurgery. Early diagnosis and prompt treatment of a bleeding diathesis is crucial for full neurological recovery.
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PMID:Neurosurgical management in children with bleeding diathesis: auditing neurological outcome. 2912 43