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)

Glanzmann's thrombasthenia, known also as Glanzmann's disease, is an autosomally inherited hemorrhagic disease with unique abnormalities of platelet functions. Authors present a large family in which Glanzmann's disease was diagnosed in the father and two sons. An analysis of platelet membranes enabled diagnosis of Glanzmann's thrombasthenia type II. A decrease in clot contractibility, fibrinogen binding to blood platelets, and decreased glycoprotein IIb and IIIa levels with marked impairment of GP IIb and IIIa complexes formation were characteristic for affected family members. One daughter died 8 days after birth with the symptoms of hemorrhagic diathesis. Mother and remaining three sons are healthy without the signs of Glanzmann's disease.
Pol Tyg Lek
PMID:[Familial occurrence of Glanzmann thrombasthenia]. 143 2

A 64-year-old woman with a 15-years-history of rheumatoid arthritis developed generalized hemorrhagic diathesis. Routine coagulation tests revealed a slightly diminished platelet count only. Platelet aggregation in vitro induced by ADP, collagen, thrombin, arachidonic acid and ristocetin were reduced. The patient's plasma aggregating activity was significantly diminished which was due to a decrease of the intraplatelet nucleotide pool. The number of mepacrine labelled bodies as well as dense bodies in electron microscopy was below the normal values as well. Moreover, the intraplatelet concentration of cyclooxygenase--malonylodialdehyde (MDA) and lipoxygenase pathway products were lowered. Total platelet immunoglobulin G and M contents were significantly increased. The platelet survival time (in vitro aspirin method) was slightly shortened. Finally the diagnosis of delta-acquired platelet storage pool deficiency (delta-SPD) was established and possibilities of treatment were discussed.
Pol Arch Med Wewn 1991 Jul
PMID:[Acquired platelet storage pool deficiency in rheumatoid arthritis]. 178 43

A case of a rare post-traumatic complication of haemophilia A is reported. Similarly as other authors an atypical clinical course and growing internal hydrocephalus were observed in the present case. Haemorrhagic diathesis prolonged only the period of healing of the surgical wound.
Neurol Neurochir Pol
PMID:[Post-traumatic hematoma of the posterior cranial fossa in a 4-year-old boy with hemophilia A]. 725 69

Haemorrhagic diathesis is a serious complication of uraemia. Desmopressin is known to shorten prolonged bleeding time in uraemia but mechanism of the haemostatic action of this drug remains still unknown. The aim of the work was to study the effect of desmopressin on some haemostatic parameters in relation to plasma and platelet serotonin. Desmopressin was administered i.v. to 33 haemodialysed patients (age range 27-66 years) in a dose of 0.4 microgram/kg b.w., 90 minutes after desmopressin infusion bleeding time became significantly shorter (p < 0.001) and correlated with the shortening of the euglobulin clot lysis time (r = -0.43, p < 0.05). Tissue plasminogen activator activity increased (p < 0.01) and its inhibitor (PAI) activity decreased (p < 0.001) after desmopressin infusion. A correlation between the fall in platelet serotonin content and changes in tissue plasminogen activator and PAI activities was found (r = 0.55, p < 0.01 respectively). A rise in plasma serotonin concentration was observed. In vitro desmopressin inhibited 14C serotonin uptake in a dose-dependent manner. After 2 hours of platelet incubation with desmopressin in a concentration of 4 ng/ml 16% of 14C serotonin was released. A possibility of serotoninergic mechanism in the haemostatic action of desmopressin is suggested.
Pol Arch Med Wewn 1993 Aug
PMID:[Possible role of serotonin in hemostatic the mechanism of action of desmopressin (DDAVP) in patients with uremia]. 824 43

Haemorrhagic diathesis with secondary anaemia was diagnosed in a 5-week-old infant. The reason for the haemorrhagic diathesis was vitamin K deficiency caused by intrasecretory pancreatic insufficiency.
Pediatr Pol 1996 Mar
PMID:[Hemorrhagic diathesis in a 5-week-old infant with cystic fibrosis]. 896

We describe the hypoproconvertinemia - a hereditary factor VII deficiency, diagnosed in 55-years-old female. Prolonged menstruations resulted in planned hysterectomy. Both her sons also have agent VII deficiency, however without any symptoms of hemorrhagic diathesis.
Pol Arch Med Wewn 2006 Sep
PMID:[Factor VII deficiency--case report]. 1865 81

The presence of asymptomatic antiphospholipid antibodies (aAPA) creates many difficult diagnostic and clinical problems - they might be a cause either of incorrect hemorrhagic diathesis recognition or an unnecessary anticoagulant therapy. Patients with aAPA should be counseled individually regarding potential thrombotic and/or obstetric complications. An increased risk of these complications is particularly high when lupus anticoagulant (LAC) and IgG anti-beta2 glycoprotein antibodies coexist. The approaches to the diagnosis and management of treatment of patients with aAPA are also discussed.
Pol Arch Med Wewn 2008
PMID:[Clinically asymptomatic antiphospholipid antibodies--diagnostic and therapeutic problems]. 1956 75

RHDV (rabbit haemorrhagic disease virus) is an etiologic factor of RHD (rabbit haemorrhagic disease), which is highly morbid and mortal viral infection of an adult European rabbit. Although three decades have passed since the first outbreak of rabbit haemorrhagic disease, the pathogenesis of RHD has still not been fully elucidated. It is known that RHDV replicates in the liver within the first hours following infection, causing necrotic and apoptotic cell death of hepatocytes. Anatomopathological changes are also observed in other organs of infected rabbits, i.e. lungs, spleen, kidneys, heart, as well as central nerve system. These changes leading to animals death are predominantly caused by systemic hemorrhagic diathesis with disseminated intravascular coagulation (DIC), appearing most likely as a consequence of liver cell loss through RHDV-induced apoptosis. In this paper, we presented previously described changes in biochemical and coagulation factors in RHDV infection.
Acta Biochim Pol 2015
PMID:The importance of liver lesions and changes to biochemical and coagulation factors in the pathogenesis of RHD. 2591 86

Hemophilia A is an X-linked recessive hemorrhagic disorder caused by variants in the F8 gene. To identify known and novel causative variants in hemophilia A, we have carried out genetic analysis among Saudi patients. Twenty-one patients, who were negative for inv-1/inv-22, were selected for analysis by next generation sequencing, thereafter confirmed by Sanger sequencing. In addition, the functionality and structural changes in the variant proteins were assessed using Molecular dynamics (MD) simulation and compared with wild-type and native proteins. In the samples we analyzed, we found 10 variants in 12 individuals; among them, five were novel and five were previously reported. The novel variants were located at positions: c.6130_6131insC, c.5815G>C, c.5493C>G, c.3734_3740delinsATTTCT and c.3744A>T. With the exception of one variant which was silent, the MD simulation revealed that the observed variants were causing severe structural changes when compared to the native protein and resulted in a loss of the protein's function. The MD analysis is in line with clinical data of patients who had <1% Factor VIII levels (severe hemophilia) with episodic bleeding, and were on more than one treatment. Moreover, some patients presented with chronic joint disability. These results will enrich the spectrum of variants and enlarge the factor VIII protein's database in the Saudi Arabian population.
Acta Biochim Pol 2019 Feb 22
PMID:Identification of six novel factor viii gene variants using next generation sequencing and molecular dynamics simulation. 3079 13

Von Willebrand disease (VWD) is the most common congenital bleeding disorder, with a clinical presentation of mucocutaneous and surgical bleeding varying from mild to severe. It is inherited in an autosomal dominant or autosomal recessive manner. The disease is caused by quantitative or qualitative deficiency of the von Willebrand factor (VWF) and is classified as type 1, 2 (2A, 2B, 2M, 2N), and 3. Although type 1 VWD is the most common form of VWD, the f ormal cutoff for diagnosis remains a subject of debate. In our paper, we present results of studies regarding the clinical and laboratory importance of a new type of bleeding disorder called low VWF. The new guidelines for VWD diagnosis and management suggested that patients with historically type 1 VWD should be divided into 2 subsets: type 1 VWD with a VWF antigen level (VWF:Ag) of less than 30 IU/dl or less than 40 IU/dl, in which about 80% of patients exhibited VWF gene mutations, and low VWF with a VWF:Ag level of 30 to 50 IU/dl or 40 to 50 IU/dl, in which the causative mutation is detected in merely 40% of patients and in most families, inheritance is not dependent on the locus of VWF on chromosome 12. Previously, moderately reduced VWF levels (30-50 IU/dl) were considered a risk factor for bleeding, but not a true bleeding disorder, and this condition was named low VWF. Recently, it was documented in a large group of patients with type 1 VWD and low VWF that bleeding score does not correlate with VWF:Ag and bleeding symptoms in type 1 VWD (<30 IU/dl) and low VWF can change from infrequent and moderate to severe bleeds. Because the plasma concentration of VWF depends on many physiological and pathological factors that may mask the diagnosis of VWD, separation of the group of patients with low VWF (30-50 IU/dl) from those with type 1 VWD may delay or prevent them from receiving appropriate treatment. Diagnosis of VWD in each case, particularly those with a slight decrease in VWF (30-50 IU/dl), should be based primarily on the clinical manifestations and family history of hemorrhagic diathesis.
Pol Arch Intern Med 2020 03 27
PMID:Clinical significance of slightly reduced von Willebrand factor activity. 3199 Feb 75


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