Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019087 (hemorrhagic diathesis)
 678 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 10-year-old boy had a severe lifelong hemorrhagic disorder that had necessitated more than 50 hospitalizations. Laboratory examination showed prolonged bleeding, clotting, partial thromboplastin, prothrombin, and thrombin times. These findings were due to a potent inhibitor of the thrombin-fibrinogen reaction. This inhibitor was similar to heparin in that it acted immediately and did not interfere with the coagulant activities of certain venoms. It differed from heparin in not being adsorbed to barium citrate or neutralized by protamine sulfate. The inhibitory effect was found in the alpha1-globulin fraction. It was identified immunologically and functionally as a double-banded alpha1-antitrypsin of a previously unreported phenotype. The inhibitory effects were depressed by trypsin and heterologous anti-alpha1-antitrypsin.
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PMID:Antithrombin Pittsburgh: an alpha1-antitrypsin variant causing hemorrhagic disease. 41 31

An additional small G-like chromosome was found in a newborn female with multiple abnormalities and hemorrhagic diathesis. G banding showed that the index patient was trisomic for the short arm of chromosome 8 and revealed the anomaly t(8;15)(q12;p11) in her mother. The relationship between chromosome 8 and multiple hemorrhages is discussed.
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PMID:Trisomy 8p due to the 3:1 segregation of the balanced translocation t(8;15)mat. 43 77

The platelet function was studied in 23 patients with systemic lupus erythematosus, all of whom met the diagnostic creteria established by the American Rheumatism Association. They were not under any treatment, especially with any drug that might interfere with platelet function. The same study was performed on a control group composed of volunteers donors at a blood bank. The platelet count was definitely lower in the patients with lupus than in the control subjects (p less than 0.0005), although a clear thrombopenia was observed in only two indivduals (8.7 percent). Anti-platelet antibodies were found in only six cases (26 percent). There was a linear correlation between thrombopenia and the presence of hemorrhagic diathesis and low levels of C4 and CH50 components. Plateler adhesiveness was clearly lower in the lupus group than in the control group (p less than 0.0005). The presence of kidney disease determined a greater impairment of the platelet adhesiveness (p less than 0.0025). A notable defect on platelet aggregation was induced by ADP, adrenaline and collagen. This was more apparent in the group of patients exhibiting a higher degree of clinical activity and in those who showed a serum complement decrease. The mechanism responsible for this thrombopathy appears to be an interference in the platelet function due to the presence of circulating immunocomplexes. They adhere to the platelet membrane blocking its function and inhibiting the release of the necessary thrombocytic components for the second phase of the aggregation. This platelet alteration is not usually manifested clinically; for this reason no relationship was found between this platelet defect and the presence of hemorrhagic symptoms in our patients. The condition is reversible and may disappear after therapy with steroids and/or immunosuppresive agents.
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PMID:[Platelet function in systemic lupus erythematosus (author's transl)]. 45 1

The literature published before October, 1977 on the so-called sea-blue histiocyte syndrome is reviewed. This is a new lipid thesaurismosis, and from a morphological point of view it is characterized by the appearance of large histiocytes in the organs of the reticuloendothelial system with numerous intracytoplasmic granules which take on a typical sea-blue or greenish color with Wright's or Giemsa stain. The exact nature of the accumulated substance has not yet been specifically determined, though it appears to be gluco- and/or phosphosphingolipid, essentially sphingomyelin. The specific biochemical alteration responsible for this chronic deposit has not been established, though a partial sphingomyelinase deficiency has been detected. Sea-blue histiocytes have been observed in two different situations, either as an acquired phenomenon or as a primary condition. Of the latter there have been sporadic cases and cases with a definite familial incidence. The clinical manifestations include enlargement of the liver and spleen, neurological symptoms, cirrhosis of the liver, hemorrhagic diathesis and purpura, chronic pneumopathies, eye or cutaneous disturbances, or no symptoms at all. The disease has a benign clinical course, and the prognosis is less favourable when clinical manifestations appear early in life. These cases have a greater tendency to develop neurological alterations. The final definition of the syndrome must await the clear identification of the accumulated material and the altered enzyme or metabolic pathway.
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PMID:[Sea-blue histiocyte syndrome (author's transl)]. 49 88

1. Activated factor XIII is the enzyme that covalently cross-links fibrin monomers into fibrin polymers and results in increased clot strength and resistance of the clot to fibrinolysis. 2. Small amounts (greater than 1% of normal) of factor XIII are necessary for normal in vitro and in vivo activity. 3. Factor XIII deficiency is a rare autosomal recessive illness in which a hemorrhagic diathesis is caused by the virtual absence of the active a subunit of factor XIII. Approximately 100 cases have been described. 4. The disease in homozygotes is characterized by umbilical stump bleeding, a high incidence of fetal wastage, delayed soft tissue hemorrhage, and a high incidence of intracranial bleeding. The heterozygote is asymptomatic. 5. This paper calls attention to the apparent high incidence of oligospermia and small testes seen in homozygote males. Otherwise secondary sex characterics are normal. 6. Because there is no abnormality in thrombin generation and conversion of fibrinogen to fibrin, route coagulation tests (prothrombin time, partial thromboplastin time, thrombin time, etc.) are normal. Platelet function tests are normal. 7. Clots made from recalcified plasma severely deficient in factor XIII are soluble in 5 M urea or 1% monochloroacetic acid. These screening tests are simple and nearly pathognomonic of the illness. 8. More sophisticated and quantitative tests (e.g., dansylcadaverine incorporation) are available for definitive diagnosis and heterozygote detection. 9. Replacement treatment of the illness is simple, effective, and relatively inexpensive. Due to the long half-life of infused factor XIII and the small amounts necessary for normal hemostasis, prophylaxis is feasible and encouraged.
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PMID:Factor XIII. 51 66

In ten experiments, 53 castrated male 4- to 8-week-old weanling pigs were given adriamycin (ADR) IV at mean dosages of 0.64, 1.0, 1.6, 3.2, or 6.4 mg/kg/week at various frequencies for up to 20 weeks. Mortalities in pigs given these dosages were 0% after 112 days, 100% after 134 days (survival time was 48 to 134 days), 91% after 75 days (survival time was 5 to 75 days), 100% after 28 days (survival time was 23 to 28 days), and 100% after 14 days (survival time was 10 to 14 days), respectively. Survival time was prolonged in younger pigs and in pigs given smaller but more frequent dosages of ADR. Characteristic gross and histopathologic alterations of ADR toxicosis were observed in pigs given 1.0, 1.6, 3.2, or 6.4 mg/kg/week mean dosages. The most frequent lesions were in the alimentary tract, myeloid and lymphoid tissues, skin, and perivascular tissues at injection sites. Alimentary tract lesions were mucosal epithelial atrophy, with secondary fibrinonecrotic inflammation in the oral cavity and large intestine. Marked hypoplasia was seen in bone marrow and lymphoid tissues, with frequent terminal hemorrhagic diathesis and septicemia. Several days before death, the pigs developed severe dermatitis over the ventral portion of the abdomen and inner surfaces of the limbs. Perivascular necrosis and cellulitis produced by extravasation of ADR was a frequent complication of treatment. Terminal severe acute pneumonia occurred in most pigs. Pericarditis or cardiomyopathy (or both) developed in 14 pigs, given 0.64, 1.0, or 1.6 mg/kg each week (mean cumulative dosage 520.5 mg/m2 of body surface). Characteristic histopathologic and ultrastructural alterations in affected cardiac muscle cells were vacuolar degeneration, myocytolysis, and hyaline necrosis. Nephrotoxicosis also was in pigs with chronic ADR toxicosis. Systemic antibiotic treatment did not prolong survival of ADR-treated pigs in two experiments, but did in one other experiment.
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PMID:Pathologic features of adriamycin toxicosis in young pigs: nonskeletal lesions. 52 72

A case of spontaneous hematomyelia was reported with a review of the literature. A 39-year-old woman, with sudden onset of pain in her left neck and arm 13 days previously, presented with a progressive flaccid tetraplegia below C5, dissociated sensory loss from C7 through Th4 dermatome and a minimal deep sensory loss in her right leg. Myelography revealed a symmetrical enlargement of the spinal cord at the leve of C5, C6 and C7. Laminectomy was performed and intramedullary blood clot, which was located in the region of C6 and C7, was evacuated. However, there were no vascular anomalies not only in macroscopic findings but also in histological examination. The postoperative course was uneventful and the patient gradually improved in her motility. At 5 month' follow-up examination she continued to do well with a minimal sensory loss of all modalities below the level of C7. Report of 16 patients with spontaneous hematomyelia including our case have been reviewed. Incidence of spontaneous hematomyelia without vascular anomalies or hemorrhagic diathesis very rare, being found in only 4 cases. In cases with good outcome the intramedullary hematoma was found to be located below the lower cervical region and limited within 2 spinal segments in its extent. Good postoperative results were obtained in 5 out of 7 patients who received surgical intervention, suggesting an essential importance of early diagnosis and surgery.
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PMID:[A case of spontaneous hematomyelia (author's transl)]. 53 Mar 69

Owren's disease is a rare hemorrhagic diathesis which can occur in infancy as a severe hemorrhagic disorder. It also appears in adult life when clinical manifestations are those of acquired deficiencies of other coagulation factors. A familial survey enables a definite diagnosis to be made as it demonstrates the presence of deficiency in factor V in one or several members of the family. Such a case is reported in a young adult with an associated intestinal malabsorption syndrome due to lambliasis. After administration of vitamin K the deficiency in factor V remained an isolated disorder, and the hemostatic anomaly was found in three other members of the family. The deficiency was a partial one, which explains why the Owren's disease only became evident during the course of the malabsorption syndrome due to lambliasis which caused a reduction in the level of vitamin K dependent factors II, VII, and X.
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PMID:[Partial congenital deficiency in factor V associated with an intestinal malabsorption syndrome due to lambliasis. A familial survey (author's transl)]. 53 80

Diplococcous infection was observed in 15 calves aged 3 to 30 days. Diplococcous pneumoniae was isolated from synovial fluid and parenchymal organs in affected joints of dead calves. Clinically and morphologically the disease had an active course in calves aged up to 20 days, while in the older ones a subacute or chronic course of the disease was observed. The morphological changes depended on the type of infection. In acute infections a septic course of the disease, including hemorrhagic diathesis, enlarged spleen, myocarditis, hyperaemia, oedema and isolated hemorrhages of the brain meninges was observed, while in the chronic cases pneumonia, pleutisy, pericarditis, arthritis of the knee, elbow, dorsal and carpal joints and ofien suppurative meningoencephalitis were encountered.
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PMID:[Morphological changes in diplococcosis in calves]. 54 5

We describe a microtechnology for the study of the coagulation system in newborn infants. Interpretation of results demands an understanding of the techniques used and the nature of the control population from which normal values are drawn. We have examined two syndromes which represent the majority of hemostatic disorders of sick newborn infants. The first is thrombocytopenia resulting from bacterial infections in which there are minimal changes in the levels of blood coagulation factors and little tendency to bleed. The second is a syndrome of disseminated intravascular coagulation in which there is a profound disturbance in the coagulation mechanism, relatively little change in platelet counts, a severe hemorrhagic diathesis, and widespread ischemic necrosis.
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PMID:Clinical and laboratory diagnosis of hemostatic disorders in newborn infants. 54 15


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