Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0012739 (disseminated intravascular coagulation)
 8,673 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A fibrinogen variant was identified in a pregnant patient with disseminated intravascular coagulation and abruptio placentae. This dysfibrinogen was also found in four asymptomatic members of the patient's family. Coagulation studies showed prolongation of both the thrombin and reptilase times, and discrepancy was noted between the levels of plasma fibrinogen as determined by a kinetic versus an immunological determination or light-scattering assay. Studies on purified fibrinogen revealed an impaired release of fibrinopeptide B by thrombin related to a delayed thrombin-induced fibrin polymerization. DNA sequencing revealed a heterozygous T <-- A point mutation in position 9373 of the gamma-chain gene (exon 9), which substituted a K for an N at position 361.
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PMID:Fibrinogen Poissy II (gammaN361K): a novel dysfibrinogenemia associated with defective polymerization and peptide B release. 1269 54

We report the death of an 18-year-old male with partial ornithine transcarbamylase (OTC) deficiency who participated in a pilot (safety) study of gene therapy. The vector used for this trial was based on human adenovirus type 5, deleted in E1 and E4, and contained human OTC cDNA. It was infused into the right hepatic artery at a dose of 6x10(11)particles/kg. Approximately 18 h. following gene transfer the subject was noted to have altered mental status and jaundice--clinical signs not seen in any of the first 17 subjects in this study. Subsequently, his clinical course was marked by systemic inflammatory response syndrome, biochemically detectable disseminated intravascular coagulation, and multiple organ system failure, leading to death 98 h following gene transfer. Post-mortem examination was consistent with the clinical course, and vector DNA sequences were readily detectable in most tissues. The subject had high serum levels of IL-6 and IL-10 but normal TNFalpha immediately after infusion of the vector. This experience points to the limitations of animal studies in predicting human responses, the steep toxicity curve for replication defective adenovirus vectors, substantial subject-to-subject variation in host responses to systemically administered vectors, and the need for further study of the immune response to these vectors.
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PMID:Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer. 1456 64

In meningococcal sepsis, disseminated intravascular coagulation with deposition of fibrin and formation of microthrombi occurs in various organs and enhanced inhibition of fibrinolysis is associated with adverse outcome. Recently, TAFI (thrombin-activatable fibrinolysis inhibitor) was identified as a link between coagulation and fibrinolysis, as TAFI can be activated by thrombin and once activated potently attenuates fibrinolysis. On the basis of this one would predict that DNA polymorphisms that increase TAFI activity would deteriorate the outcome in meningococcal sepsis. Therefore, we studied the prevalence of the Thr325Ile dimorphism in the TAFI gene, which is associated with increased TAFIa stability and activity in 50 patients who survived meningococcal disease, in 176 first-degree relatives of a consecutive patient series with meningococcal disease and 212 controls from the same geographic region. The TAFI 325 Ile/Ile genotype was slightly more common among parents of patients with meningococcal disease than in controls (11% vs. 7.1%, P= 0.24). This difference was pronounced among the subgroup of parents of non-surviving patients (19.2%, P= 0.03). Patients whose parents were carriers of the TAFI 325 Ile/Ile genotype had a 1.6-fold (95% CI 0.7-3.7) higher risk to contract meningococcal disease and a 3.1-fold (95% CI 1.0-9.5) increased risk to die from the infection compared with all other genotypes. Survivors had a genotype frequency (4.0%) that was lower than in the general population. TAFI 325 variants affect the outcome of meningococcal disease.
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PMID:A functional single nucleotide polymorphism in the thrombin-activatable fibrinolysis inhibitor (TAFI) gene associates with outcome of meningococcal disease. 1471 66

We report a 49-year-old woman who had adult T-cell leukemia/lymphoma (ATL) of the bone with multiple osteolytic lesions and pathological fractures of her extremities. The WBC count was 15,810/microliter with 0-1% of abnormal lymphocytes, but CT scan revealed no lymphadenopathy. Antibodies to HTLV-I were positive, and a right tibial bone biopsy showed infiltration of ATL cells. Monoclonal integration of HTLV-1 proviral DNA was demonstrated in bone tumor cells. Seven weeks later, she died of DIC due to severe infection during extensive chemotherapy.
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PMID:[Adult T-cell leukemia/lymphoma of bone with multiple pathological fractures]. 1510 41

Acute Q fever was previously regarded as an uncommon infectious disease in Taiwan but has been increasingly recognized recently. Acute febrile illness, hepatitis, and pneumonia are the 3 most common manifestations of this condition, whereas jaundice is rarely reported among patients with acute Q fever. We report 2 cases of acute Q fever with jaundice and multi-organ involvement. The first patient presented with fever, severe headache, and acute abdomen necessitating laparotomy and was complicated with acute cholestatic hepatitis, acute non-oliguric renal failure and disseminated intravascular coagulation. The second patient had acute cholestatic hepatitis and thrombocytopenia, and the latter was likely related to the infection of bone marrow by Coxiella burnetii, as evidenced by the presence of C. burnetii DNA detected by nested polymerase chain reaction. The incidence and clinical significance of hyperbilirubinemia was also determined by review of medical records of 35 cases of acute Q fever cases diagnosed serologically at National Cheng Kung University Hospital from 1994 to 2001. All had biochemical hepatitis and 23% had hyperbilirubinemia (serum bilirubin > or =2 mg/dL). The febrile course before admission and the period between the initiation of effective medication to defervescence were longer in patients with hyperbilirubinemia than in patients without hyperbilirubinemia, although this difference was not significant. Our results suggest that the predominant presentation of acute Q fever in southern Taiwan is acute febrile illness with hepatitis and that jaundice is not uncommon. Due to the clinical polymorphism of acute Q fever, the threshold of surveys for C. burnetii infections should be low for febrile patients with elevated transaminases or hyperbilirubinemia of unknown cause.
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PMID:Acute hepatitis with or without jaundice: a predominant presentation of acute Q fever in southern Taiwan. 1518 92

Maternal infection with parvovirus B19 during pregnancy can cause aplastic anemia in the fetus. Severe anemia may lead to nonimmune hydrops or fetal demise. In the case reported, the demise of one twin was diagnosed by ultrasonography in an asymptomatic 21-year-old para 1-0-2-1 African American at the gestational age of 25 weeks. The deceased twin (A) was grossly hydropic with anasarca, ascites, pleural and pericardial effusions, and a thickened placenta. Parvovirus B19 DNA was found in the amniotic fluid of Twin A using the polymerase chain-reaction technique. Serial scans of Twin B showed normal growth and no evidence of hydrops. The pregnancy was managed expectantly until 29 weeks when delivery was indicated by maternal disseminated intravascular coagulation. Maternal IgM antiparvovirus B19 antibodies were detected at the time of delivery. Antiparvovirus B19 IgM antibodies were not present in Twin B. These serologic studies suggest a recent acute maternal infection and refute such an infection in Twin B. We present a case of differential transmission of parvovirus B19 in a twin pregnancy with in utero death of the infected twin and subsequent maternal disseminated intravascular coagulation.
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PMID:Differential transmission of parvovirus B19 in a twin gestation: a case report. 1552 55

Pentatricopeptide repeat proteins (PPRPs) constitute one of the largest superfamilies in plants, with more than 440 identified in the Arabidopsis thaliana (L.) Heynh genome. While some PPRPs are known to take part in organelle gene expression, little is known about the broader biological contexts of PPRP gene function. Here, using developmental- and reverse-genetic approaches, we demonstrate that a number of PPRPs are essential early in plant development. We have characterized the Arabidopsis embryo-defective175 mutant and identified the EMB175 gene. Emb175 consistently displays aberrant cell organization and undergoes morphological arrest before the globular-heart transition. The emb175 mutation disrupts an intronless open reading frame encoding a predicted chloroplast-localized PPR protein- the first to be rigorously associated with an early embryo-lethal phenotype. To determine if other PPRP genes act in embryogenesis, we searched Arabidopsis insertion mutant collections for pprp knockout alleles, and identified 29 mutants representing 11 loci potentially associated with embryo-defective phenotypes. We assessed gene structures, T-DNA insertion position, and allelism for these loci and were able to firmly establish essential functions for six PPRP genes in addition to EMB175. Interestingly, Nomarski DIC microscopy revealed diverse embryonic defects in these lines, ranging from early lethality to dramatic late-stage morphological defects such as enlarged shoot apices and stunted cotyledons. Together, emb175 and these pprp knockout mutants establish essential roles for PPRPs in embryogenesis, thus broadening the known organismal context for PPRP gene function. The diversity of emb-pprp knockout phenotypes indicates that mutation of different PPRPs can, directly or indirectly, have distinct impacts on embryo morphogenesis.
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PMID:Arabidopsis emb175 and other ppr knockout mutants reveal essential roles for pentatricopeptide repeat (PPR) proteins in plant embryogenesis. 1564 1

Alemtuzumab (Campath 1H) is a recombinant DNA derived humanized monoclonal antibody which targets CD52 antigens on B and T cells. It is increasingly used as a conditioning agent for bone marrow transplantation. We describe the case of a 37 year old woman who developed acute renal failure and disseminated intravascular coagulation (DIC) following one dose of Campath and Fludarabine. Campath was thought to be the most likely causal agent although Fludarabine alone or in combination with Campath cannot be excluded. Despite there being many documented side effects of Campath there are currently no reports in the literature of acute renal failure and DIC. The transplant had to be aborted and 9 months on the patient is still requiring dialysis twice a week.
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PMID:Acute renal failure and disseminated intravascular coagulation following an idiosyncratic reaction to Alemtuzumab (Campath 1H) or fludarabine. 1565 59

Herein we describe a case of a patient with elderly-onset systemic lupus erythematosus presenting as acute renal failure due to disseminated intravascular coagulation. A 78-year-old man was admitted to our hospital with fever and generalized lymphadenopathy. He was diagnosed as having systemic lupus erythematosus on the basis of renal involvement, hematological abnormality and positivity for antinuclear and anti-double-stranded DNA antibodies. Renal biopsy revealed lupus nephritis (class III and V (A/C)) with focal glomerular thrombosis. He responded to hemodialysis and corticosteroid therapy with remission of serological values and renal function. Possible mechanisms underlying the coexistence of these conditions are discussed.
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PMID:A case of elderly-onset systemic lupus erythematosus presenting as acute renal failure due to disseminated intravascular coagulation. 1624 Sep 1

A 10-year-old, crossbreed dog was presented with a history of severe lethargy, pyrexia and inappetence of several days' duration. Clinical examination revealed pallor of the mucous membranes, petechiae, generalised lymphadenopathy and effusions in multiple joints. Laboratory evaluation showed severe anaemia and thrombocytopenia, with positive in-saline agglutination and the presence of antiplatelet antibodies. The DNA of Anaplasma phagocytophilum, an endemic granulocytic rickettsial parasite, was detected by PCR. A poor response to doxycycline and immunosuppressive therapy with corticosteroids was seen. Euthanasia was performed after the development of disseminated intravascular coagulation. Postmortem examination demonstrated changes consistent with the development of disseminated intravascular coagulation and infection with granulocytic ehrlichiosis. This case documents the presence of canine granulocytic ehrlichiosis caused by A phagocytophilum in the U.K., and highlights the range of clinical signs and clinicopathological abnormalities that may be observed in infected dogs.
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PMID:Immune-mediated haemolytic anaemia and thrombocytopenia associated with Anaplasma phagocytophilum in a dog. 1630 Jan 16


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