Bernard-Soulier Syndrome
Physiology
Platelet Glycoprotein GPIb-IX Complex
Platelet membrane glycoprotein complex essential for normal platelet adhesion and clot formation at sites of vascular injury. It is composed of three polypeptides, GPIb alpha, GPIb beta, and GPIX. Glycoprotein Ib functions as a receptor for von Willebrand factor and for thrombin. Congenital deficiency of the GPIb-IX complex results in Bernard-Soulier syndrome. The platelet glycoprotein GPV associates with GPIb-IX and is also absent in Bernard-Soulier syndrome.
Blood Platelets
Platelet Membrane Glycoproteins
Ristocetin
Hematology
Lions
Translational Medical Research
Cystinuria
An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1.
Mutation
Eating Disorders
Stress Disorders, Post-Traumatic
A class of traumatic stress disorders with symptoms that last more than one month. There are various forms of post-traumatic stress disorder, depending on the time of onset and the duration of these stress symptoms. In the acute form, the duration of the symptoms is between 1 to 3 months. In the chronic form, symptoms last more than 3 months. With delayed onset, symptoms develop more than 6 months after the traumatic event.
Attention Deficit Disorder with Hyperactivity
A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-V)
Bipolar Disorder
MedlinePlus
von Willebrand Factor
A high-molecular-weight plasma protein, produced by endothelial cells and megakaryocytes, that is part of the factor VIII/von Willebrand factor complex. The von Willebrand factor has receptors for collagen, platelets, and ristocetin activity as well as the immunologically distinct antigenic determinants. It functions in adhesion of platelets to collagen and hemostatic plug formation. The prolonged bleeding time in VON WILLEBRAND DISEASES is due to the deficiency of this factor.
von Willebrand Diseases
Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion.
Cell Wall
Antiphospholipid Syndrome
The presence of antibodies directed against phospholipids (ANTIBODIES, ANTIPHOSPHOLIPID). The condition is associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses. In pregnancy it can cause abortion. Of the phospholipids, the cardiolipins show markedly elevated levels of anticardiolipin antibodies (ANTIBODIES, ANTICARDIOLIPIN). Present also are high levels of lupus anticoagulant (LUPUS COAGULATION INHIBITOR).
Antibodies, Antiphospholipid
Antibodies, Anticardiolipin
Antiphospholipid antibodies found in association with systemic lupus erythematosus (LUPUS ERYTHEMATOSUS, SYSTEMIC;), ANTIPHOSPHOLIPID SYNDROME; and in a variety of other diseases as well as in healthy individuals. The antibodies are detected by solid-phase IMMUNOASSAY employing the purified phospholipid antigen CARDIOLIPIN.
beta 2-Glycoprotein I
A 44-kDa highly glycosylated plasma protein that binds phospholipids including CARDIOLIPIN; APOLIPOPROTEIN E RECEPTOR; membrane phospholipids, and other anionic phospholipid-containing moieties. It plays a role in coagulation and apoptotic processes. Formerly known as apolipoprotein H, it is an autoantigen in patients with ANTIPHOSPHOLIPID ANTIBODIES.
Lupus Coagulation Inhibitor
An antiphospholipid antibody found in association with systemic lupus erythematosus (LUPUS ERYTHEMATOSUS, SYSTEMIC;), ANTIPHOSPHOLIPID SYNDROME; and in a variety of other diseases as well as in healthy individuals. In vitro, the antibody interferes with the conversion of prothrombin to thrombin and prolongs the partial thromboplastin time. In vivo, it exerts a procoagulant effect resulting in thrombosis mainly in the larger veins and arteries. It further causes obstetrical complications, including fetal death and spontaneous abortion, as well as a variety of hematologic and neurologic complications.
Lupus Erythematosus, Systemic
A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.
Cardiolipins
Acidic phospholipids composed of two molecules of phosphatidic acid covalently linked to a molecule of glycerol. They occur primarily in mitochondrial inner membranes and in bacterial plasma membranes. They are the main antigenic components of the Wassermann-type antigen that is used in nontreponemal SYPHILIS SERODIAGNOSIS.
The critical interaction of glycoprotein (GP) IBbeta with GPIX-a genetic cause of Bernard-Soulier syndrome. (1/69)
Bernard-Soulier syndrome is an uncommon bleeding disorder caused by a quantitative or qualitative defect in the platelet glycoprotein (GP)Ib/IX complex. The complex is composed of four subunits, GPIbalpha, GPIbbeta, GPIX, and GPV. Here we describe the molecular basis of a novel Bernard-Soulier syndrome variant in a patient in whom GPIbalpha and GPIX were undetectable on the platelet surface. DNA sequence analysis showed normal sequence for GPIbalpha, GPIX, and GPV. The GPIbbeta gene has been mapped to the 22q11.2 region of chromosome 22 which was deleted from one chromosome of this patient. There was a single nucleotide deletion within the codon for Ala 80 in GPIbbeta within the other allele. This mutation causes a translational frame shift that encodes for 86 altered amino acids and predicts a premature stop 15 amino acids short of the length of the wild-type protein. Transient coexpression of the mutant GPIbbeta in 293T cells with wild-type GPIbalpha and GPIX resulted in the surface expression of GPIbalpha, but the absence of GPIX. Moreover, when a plasmid encoding the wild-type GPIbbeta was transiently transfected into Chinese hamster ovary cells stably expressing GPalpha, which retain the capacity to reexpress GPIX, there was a significant increase in the surface expression of GPIX. In contrast, when the mutant GPIbbeta was transiently transfected into these cells, GPIX was not reexpressed on the plasma surface. Thus, a deletion of one copy of GPIbbeta and a single nucleotide deletion in the codon for Ala 80 within the remaining GPIbbeta allele causes the Bernard-Soulier phenotype through an interaction of GPIbbeta with GPIX resulting in the absence of GPIbalpha on the plasma membrane. The interaction of GPIbbeta with GPIX is essential for the functional expression of GPIbalpha. (+info)Glycoprotein V-deficient platelets have undiminished thrombin responsiveness and Do not exhibit a Bernard-Soulier phenotype. (2/69)
Adhesion of platelets to extracellular matrix via von Willebrand factor (vWF) and activation of platelets by thrombin are critical steps in hemostasis. Glycoprotein (GP) V is a component of the GPIb-V-IX complex, the platelet receptor for vWF. GPV is also cleaved by thrombin. Deficiency of GPIb or GPIX results in Bernard-Soulier syndrome (BSS), a bleeding disorder in which platelets are giant and have multiple functional defects. Whether GPV-deficiency might also cause BSS is unknown as are the roles of GPV in platelet-vWF interaction and thrombin signaling. We report that GPV-deficient mice developed normally, had no evidence of spontaneous bleeding, and had tail bleeding times that were not prolonged compared with wild-type mice. GPV-deficient platelets were normal in size and structure as assessed by flow cytometry and electron microscopy. GPV-deficient and wild-type platelets were indistinguishable in botrocetin-mediated platelet agglutination and in their ability to adhere to mouse vWF A1 domain. Platelet aggregation and ATP secretion in response to low and high concentrations of thrombin were not decreased in GPV-deficient platelets compared with wild-type. Our results show that (1) GPV is not necessary for GPIb expression and function in platelets and that GPV deficiency is not likely to be a cause of human BSS and (2) GPV is not necessary for robust thrombin signaling. Whether redundancy accounts for the lack of phenotype of GPV-deficiency or whether GPV serves subtle or as yet unprobed functions in platelets or other cells remains to be determined. (+info)Inherited giant platelet disorders. Classification and literature review. (3/69)
Inherited giant platelet disorders are extremely rare. The aim of this article is to review the clinical and laboratory features of this heterogeneous group and to arrive at a working classification. We conducted our literature search using the National Library of Medicine database. A total of 12 clinical entities were described. We classified them into 4 groups depending on the clinical and structural abnormalities. The pathophysiology of these disorders is largely unknown, and more research is needed, particularly in the light of recent advances in laboratory medicine. This review may provide a valuable reference for clinicians and may form a basis for future classification and research. (+info)Generation and rescue of a murine model of platelet dysfunction: the Bernard-Soulier syndrome. (4/69)
The human Bernard-Soulier syndrome is an autosomal recessive disorder of platelet dysfunction presenting with mild thrombocytopenia, circulating "giant" platelets and a bleeding phenotype. The bleeding in patients with the Bernard-Soulier syndrome is disproportionately more severe than suggested by the reduced platelet count and is explained by a defect in primary hemostasis owing to the absence of the platelet glycoprotein (GP) Ib-IX-V membrane receptor. However, the molecular basis for the giant platelet phenotype and thrombocytopenia have remained unresolved but assumed to be linked to an absent receptor complex. We have disrupted the gene encoding the alpha-subunit of mouse GP Ib-IX-V (GP Ibalpha) and describe a murine model recapitulating the hallmark characteristics of the human Bernard-Soulier syndrome. The results demonstrate a direct link between expression of a GP Ib-IX-V complex and normal megakaryocytopoiesis and platelet morphogenesis. Moreover, using transgenic technology the murine Bernard-Soulier phenotype was rescued by expression of a human GP Ibalpha subunit on the surface of circulating mouse platelets. Thus, an in vivo model is defined for analysis of the human GP Ib-IX-V receptor and its role in the processes performed exclusively by megakaryocytes and platelets. (+info)Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome. (5/69)
Bernard-Soulier syndrome is a rare bleeding disorder caused by a quantitative or qualitative defect in the platelet glycoprotein (GP) Ib-IX-V complex. The complex, which serves as a platelet receptor for von Willebrand factor, is composed of 4 subunits: GPIb alpha, GPIb beta, GPIX, and GPV. We here describe the molecular basis of a novel form of Bernard-Soulier syndrome in a patient in whom the components of the GPIb-IX-V complex were undetectable on the platelet surface. Although confocal imaging confirmed that GPIb alpha was not present on the platelet surface, GPIb alpha was readily detectable in the patient's platelets. Moreover, immunoprecipitation of plasma with specific monoclonal antibodies identified circulating, soluble GPIb alpha. DNA-sequence analysis revealed normal sequences for GPIb alpha and GPIX. There was a G to A substitution at position 159 of the gene encoding GPIb beta, resulting in a premature termination of translation at amino acid 21. Studies of transient coexpression of this mutant, W21stop-GPIb beta, together with wild-type GPIbalpha and GPIX, demonstrated a failure of GPIX expression on the surface of HEK 293T cells. Similar results were obtained with Chinese hamster ovary alpha IX cells, a stable cell line expressing GPIbalpha that retains the capacity to re-express GPIX. Thus, we found that GPIbbeta affects the surface expression of the GPIb-IX complex by failing to support the insertion of GPIb alpha and GPIX into the platelet membrane. (Blood. 2000;96:532-539) (+info)Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13. (6/69)
Families with 3 different syndromes characterized by autosomal dominant inheritance of low platelet count and giant platelets were studied. Fechtner syndrome is an autosomal-dominant variant of Alport syndrome manifested by nephritis, sensorineural hearing loss, and cataract formation in addition to macrothrombocytopenia and polymorphonuclear inclusion bodies. Sebastian platelet syndrome is an autosomal-dominant macrothrombocytopenia combined with neutrophil inclusions that differ from those found in May-Hegglin syndrome or Chediak-Higashi syndrome or the Dohle bodies described in patients with sepsis. These inclusions are, however, similar to those described in Fechtner syndrome. Other features of Alport syndrome, though, including deafness, cataracts, and nephritis, are absent in Sebastian platelet syndrome. Epstein syndrome is characterized by macrothrombocytopenia without neutrophil inclusions, in addition to the classical Alport manifestations-deafness, cataracts, and nephritis-and it is also inherited in an autosomal-dominant mode. We mapped the disease-causing gene to the long arm of chromosome 22 in an Italian family with Fechtner syndrome, 2 German families with the Sebastian platelet syndrome, and an American family with the Epstein syndrome. Four markers on chromosome 22q yielded an LOD score greater than 2.76. A maximal 2-point LOD score of 3.41 was obtained with the marker D22S683 at a recombination fraction of 0.00. Recombination analysis placed the disease-causing gene in a 3.37-Mb interval between the markers D22S284 and D22S693. The disease-causing gene interval in these 3 syndromes is similar to the interval described recently in an Israeli family with a slightly different Fechtner syndrome than the one described here. Recombination analysis of these 3 syndromes refines the interval containing the disease-causing gene from 5.5 Mb to 3.37 Mb. The clinical likeness and the similar interval containing the disease-causing gene suggest that the 3 different syndromes may arise from a similar genetic defect. (+info)Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. (7/69)
A form of autosomal dominant macrothrombocytopenia is characterized by mild or no clinical symptoms, normal platelet function, and normal megakaryocyte count. Because this condition has so far received little attention, patients are subject to misdiagnosis and inappropriate therapy. To identify the molecular basis of this disease, 12 Italian families were studied by linkage analysis and mutation screening. Flow cytometry evaluations of platelet membrane glycoproteins (GPs) were also performed. Linkage analysis in 2 large families localized the gene to chromosome 17p, in an interval containing an excellent candidate, the GPIbalpha gene. GPIbalpha, together with other proteins, constitutes the plasma von Willebrand factor (vWF) receptor, which is altered in Bernard-Soulier syndrome (BSS). In 6 of 12 families, a heterozygous Ala156Val missense substitution was identified. Platelet membrane GP studies were performed in 10 patients. Eight were distinguished by a reduction of GPs comparable to that found in a BSS heterozygous condition, whereas the other 2, without the Ala156Val mutation, had a normal content of platelet GPs. In conclusion, the current study provides evidence that most (10 of 12) patients with an original diagnosis of autosomal dominant macrothrombocytopenia shared clinical and molecular features with the heterozygous BSS phenotype. The remaining 2 affected subjects represented patients with "true" autosomal dominant macrothrombocytopenia; the GPIb/IX/V complex was normally distributed on the surface of their platelets. Thus, the diagnosis of heterozygous BSS must always be suspected in patients with inherited thrombocytopenia and platelet macrocytosis. (+info)Increased thrombogenesis and embolus formation in mice lacking glycoprotein V. (8/69)
The glycoprotein (GP) Ib-V-IX complex plays a critical role in initiating platelet adhesion to von Willebrand factor (vWF) at the site of vascular injury. The complex also forms a high-affinity binding site for thrombin. Using an intravital microscopy mouse model, it was previously established that vWF plays a critical role in mediating platelet adhesion and thrombus formation following mesenteric arteriolar injury induced by ferric chloride. Further characterization of this model showed that these thrombotic events were also thrombin dependent. Using this vWF- and thrombin-dependent model, this study shows that GP V gene deficiency significantly accelerates both platelet adhesion and thrombus formation in mice following arteriolar injury. The time required for vessel occlusion in GP V-deficient (GP V(-/-)) mice was significantly shorter than that in wild-type mice. Interestingly, large emboli were also produced in GP V(-/-) mice, but not in wild-type mice, causing frequent downstream occlusion. However, when the 2 genotypes were compared in the in vitro perfusion chamber where thrombin was inhibited by heparin, no significant differences were found in either initial single-platelet adhesion or thrombus volume. These results demonstrate that GP V(-/-) mice have accelerated thrombus growth in response to vascular injury and suggest that this is caused by enhanced thrombin-induced platelet activation rather than enhanced binding of GPIb-V-IX to vWF. Absence of GP V also compromises thrombus stability. (+info)
Bernard-Soulier syndrome, type A
Bernard-Soulier Syndrome; BSS & giant platelet information. Patient | Patient
Bernard-Soulier Syndrome: Practice Essentials, Background, Pathophysiology and Etiology
platelet agonist
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Bernard-Soulier Syndrome, Type C
BERNARD-SOULIER SYNDROME, TYPE A1
Parsing the repertoire of GPIb-IX-V disorders | Blood Journal
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Glycoprotein Ib-IX-V complex
Bernard Soulier Syndrome is characterized by little or no expression of GPIb-IX on the surface of platelets which in turn has ... Lanza F (2006). "Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)". Orphanet J Rare Dis. 1: 46. doi:10.1186/ ... López JA, Andrews RK, Afshar-Kharghan V, Berndt MC (June 1998). "Bernard-Soulier syndrome". Blood. 91 (12): 4397-418. doi: ... November 2011). "Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the ...
Coagulopathy
Bernard-Soulier syndrome Unaffected Unaffected Prolonged Decreased or unaffected Factor XII deficiency Unaffected Prolonged ... acute respiratory distress syndrome, multiple organ dysfunction syndrome, major hemorrhage, and venous thromboembolism. ...
Bleeding
Bernard-Soulier syndrome. *aggregation *Glanzmann's thrombasthenia. *platelet storage pool deficiency *Hermansky-Pudlak ... a potentially catastrophic and not so rare complication among lean patients with polycystic ovary syndrome". Fertil. Steril. 93 ... This is a potentially catastrophic and not so rare complication among lean patients with polycystic ovary syndrome undergoing ...
Disseminated intravascular coagulation
Bernard-Soulier syndrome. *aggregation *Glanzmann's thrombasthenia. *platelet storage pool deficiency *Hermansky-Pudlak ... Liver disease, HELLP syndrome, thrombotic thrombocytopenic purpura/Haemolytic uremic syndrome, and malignant hypertension may ... Gando, S (1999). "Disseminated intravascular coagulation and sustained systemic inflammatory response syndrome predict organ ... "Oncogenes, trousseau syndrome, and cancer-related changes in the coagulome of mice and humans". Cancer Res. 66 (22): 10643-6. ...
Platelet
Gilbert's Syndrome[47]. Altered platelet function[edit]. *Congenital *Disorders of adhesion *Bernard-Soulier syndrome ... Hemolytic-uremic syndrome. *Drug-induced thrombocytopenic purpura (five known drugs - most problematic is heparin-induced ... Cure MC, Cure E, Kirbas A, Cicek AC, Yuce S (July 2013). "The effects of Gilbert's syndrome on the mean platelet volume and ...
Congenital afibrinogenemia
Bernard-Soulier syndrome. *aggregation *Glanzmann's thrombasthenia. *platelet storage pool deficiency *Hermansky-Pudlak ...
Glycoprotein IX
2001). "Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome". Br. J ... 1998). "Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome ... 2000). "Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome". Br. J. Haematol. 107 (3): ... Clemetson JM, Kyrle PA, Brenner B, Clemetson KJ (1994). "Variant Bernard-Soulier syndrome associated with a homozygous mutation ...
GP1BA
Several polymorphisms and mutations have been described in this gene, some of which are the cause of Bernard-Soulier syndromes ... Kunishima S, Kamiya T, Saito H (2002). "Genetic abnormalities of Bernard-Soulier syndrome". Int. J. Hematol. 76 (4): 319-27. ... glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease ...
GP1BB
Mutations in the GPIb beta subunit have been associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant ... Kunishima S, Kamiya T, Saito H (2002). "Genetic abnormalities of Bernard-Soulier syndrome". Int. J. Hematol. 76 (4): 319-27. ... evidence from a novel mutation causing Bernard-Soulier syndrome". Blood. 96 (2): 532-9. doi:10.1182/blood.V96.2.532. PMID ... of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome". J ...
Aquagenic urticaria
"Familial aquagenic urticaria and bernard-soulier syndrome". Dermatology. 212 (1): 96-7. doi:10.1159/000089035. PMID 16319487. ...
Glycoprotein Ib
It is deficient in the Bernard-Soulier syndrome. A gain-of-function mutation causes platelet-type von Willebrand disease. ...
Mean platelet volume
... syndrome Mediterranean macrothrombocytopenia Bernard-Soulier syndrome MYH9-related disorders 21q11 deletion syndrome Chronic ... "Bernard-Soulier Syndrome Workup: Approach Considerations". emedicine.staging.medscape.com. Retrieved 2018-02-22. McClatchey, ... This may be seen in immune thrombocytopenic purpura (ITP), myeloproliferative diseases and Bernard-Soulier syndrome. It may ... "Wiskott-Aldrich Syndrome". Immune Deficiency Foundation. Retrieved 2019-03-03. "CBC (Complete Blood Count), Blood". www. ...
Bleeding diathesis
Rare examples are Bernard-Soulier syndrome, Wiskott-Aldrich syndrome and Glanzmann's thrombasthenia. Gene therapy treatments ... Coagulopathy can be caused by thinning of the skin (Cushing's syndrome), such that the skin is weakened and is bruised easily ... Wiskott-Aldrich Syndrome Archived 2010-12-21 at the Wayback Machine The International Patient Organisation for Primary ... Douglas H (April 1949). "Cushing' Syndrome and Thymic Carcinoma". QJM: An International Journal of Medicine. 18 (2): 133-147. ...
Glanzmann's thrombasthenia
GpIb receptors are deficient in a disease known as Bernard-Soulier syndrome.[citation needed] Understanding of the role of ...
Platelet membrane glycoprotein
The deficiency in glycoprotein Ib-IX-V complex synthesis leads to Bernard-Soulier syndrome. Glycoprotein VI is one of the ...
BS
Bernard-Soulier syndrome, a rare autosomal recessive coagulopathy, that is caused a deficiency of glycoprotein Ib ...
Giant platelet disorder
"Bernard-Soulier Disease (Giant Platelet Syndrome) Symptoms, Causes, Treatment - What is Bernard-Soulier syndrome? - MedicineNet ... Bernard-Soulier syndrome, velocardiofacial syndrome Caused by calpain defect: Montreal platelet syndrome Caused by alpha ... Giant platelet disorder occurs for inherited diseases like Bernard-Soulier syndrome, gray platelet syndrome and May-Hegglin ... such as in Bernard-Soulier syndrome and gray platelet syndrome. People may be diagnosed after prolonged and/or recurring ...
GP5 (gene)
Mutations in GP1BA, GP1BB, and GP9 have been shown to cause Bernard-Soulier syndrome (MIM 231200), a bleeding disorder.[ ...
Ristocetin-induced platelet aggregation
... and Bernard-Soulier syndrome because it uses patient's live endogenous platelets, whereas ristocetin cofactor assay tests the ... Bernard-Soulier syndrome: hypoactive agglutination occurs (when the ristocetin cofactor assay is used, the agglutination is ... Bernard-Soulier syndrome: an inherited platelet disorder. Arch Pathol Lab Med (2007);131(12):1834-6.. ...
Coagulation
Bernard-Soulier syndrome (abnormal glycoprotein Ib-IX-V complex), gray platelet syndrome (deficient alpha granules), and delta ... Bernard-Soulier syndrome is a defect or deficiency in GPIb. GPIb, the receptor for vWF, can be defective and lead to lack of ... Mutations in the genes associated with the glycoprotein Ib-IX-V complex are characteristic of Bernard-Soulier syndrome ... Decreased platelet numbers may be due to various causes, including insufficient production (e.g., in myelodysplastic syndrome ...
Sakit na sickle-cell, ang malayang ensiklopedya
Bernard-Soulier syndrome. *aggregation *Glanzmann's thrombasthenia. *platelet storage pool deficiency *Hermansky-Pudlak ... Ang isa pang nakikilang uri ng krisis na sickle ang acute chest syndrome na inilalarawan ng trangkaso, kirot sa dibdib, mahirap ...
Von Willebrand disease
Bernard-Soulier syndrome, caused by a deficiency in the VWF receptor, GPIb List of hematologic conditions Purpura "Von ... In cases of suspected acquired von-Willebrand syndrome, a mixing study (analysis of patient plasma along with pooled normal ... Beighton P, Beighton G (2012). The Man Behind the Syndrome. Springer Science+Business Media. p. 187. ISBN 978-1447114154. ... Heyde's syndrome). This form of acquired VWD may be more prevalent than is presently thought. In 2003, Vincentelli et al. noted ...
AnnMaria De Mars
Later, he was diagnosed with Bernard-Soulier syndrome, which complicated his pre-existing injuries and he was given a prognosis ...
Von Willebrand factor
von Willebrand disease Bernard-Soulier syndrome GRCh38: Ensembl release 89: ENSG00000110799 - Ensembl, May 2017 GRCm38: Ensembl ... Heyde's syndrome, and possibly hemolytic-uremic syndrome. Increased plasma levels in many cardiovascular, neoplastic, and ... an association known as Heyde's syndrome. In thrombotic thrombocytopenic purpura (TTP) and hemolytic-uremic syndrome (HUS), ... "Acquired von Willebrand syndrome in aortic stenosis". The New England Journal of Medicine. 349 (4): 343-9. doi:10.1056/ ...
Ristocetin
... and Bernard-Soulier syndrome. Platelet agglutination caused by ristocetin can occur only in the presence of von Willebrand ...
Coagulation
Bernard-Soulier syndrome (abnormal glycoprotein Ib-IX-V complex), gray platelet syndrome (deficient alpha granules), and delta ... Mutations in the genes associated with the glycoprotein Ib-IX-V complex are characteristic of Bernard-Soulier syndrome ... Decreased platelet numbers (thrombocytopenia) is due to insufficient production (e.g., myelodysplastic syndrome or other bone ... antiphospholipid syndrome, factor V Leiden, and various other genetic deficiencies or variants).[medical citation needed] ...
Antiphospholipid syndrome
Bernard-Soulier syndrome. *aggregation *Glanzmann's thrombasthenia. *platelet storage pool deficiency *Hermansky-Pudlak ... Antiphospholipid syndrome or antiphospholipid antibody syndrome (APS or APLS), is an autoimmune, hypercoagulable state caused ... They published the first papers in 1983.[16][17] The syndrome was referred to as "Hughes syndrome" among colleagues after the ... Antiphospholipid syndrome can be primary or secondary. Primary antiphospholipid syndrome occurs in the absence of any other ...
Coagulation
Bernard-Soulier syndrome (abnormal glycoprotein Ib-IX-V complex), gray platelet syndrome (deficient alpha granules), and delta ... Decreased platelet numbers (thrombocytopenia) is due to insufficient production (e.g., myelodysplastic syndrome or other bone ... antiphospholipid syndrome, factor V Leiden, and various other genetic deficiencies or variants).[medical citation needed] The ... hemolytic-uremic syndrome/HUS, paroxysmal nocturnal hemoglobinuria/PNH, disseminated intravascular coagulation/DIC, heparin- ...
Laurent Degos
Molecular defect in platelets from patients with bernard-soulier syndrome », Blood, 1977 nov; 50(5), p. 899-903 Housset M, ... Jean Bernard Prize from the Fondation pour la recherche médicale (2002). Gagna Prize with Anne Dejean, Brussels (2003). ...
Thrombocytopenia
... with radio-ulnar synostosis ANKRD26 related thrombocytopenia Autosomal dominant thrombocytopenia Bernard-Soulier syndrome ( ... Paris-Trousseau thrombocytopenia/Jacobsen syndrome Sebastian syndrome SLFN14-related thrombocytopenia Stormorken syndrome TRPM7 ... absent radius syndrome Tropomyosin 4-related thrombocytopenia TUBB1-related thrombocytopenia Upshaw-Schulman syndrome Wiskott- ... Hemolytic-uremic syndrome Disseminated intravascular coagulation Paroxysmal nocturnal hemoglobinuria Antiphospholipid syndrome ...
থ্যালাসেমিয়া - উইকিপিডিয়া
adhesion (Bernard-Soulier syndrome) · aggregation (Glanzmann's thrombasthenia) · platelet storage pool deficiency (Hermansky- ... Thrombocytopenic purpura: ITP (Evans syndrome) · TM (TTP). Heparin-induced thrombocytopenia · May-Hegglin anomaly ... membrane: Hereditary spherocytosis(Minkowski-Chauffard syndrome) · Hereditary elliptocytosis (Southeast Asian ovalocytosis) · ... Micro-: Iron deficiency anemia (Plummer-Vinson syndrome). Macro-: Megaloblastic anemia (Pernicious anemia) ...
Haemophilia A
Bernard-Soulier syndrome. *aggregation *Glanzmann's thrombasthenia. *platelet storage pool deficiency *Hermansky-Pudlak ...
William Vainchenker
Soulier J, Viguié F, Fontenay M, Vainchenker W, Bernard OA. ., « Mutation in TET2 in myeloid cancers », N Engl J Med., 2009 may ... Finally, working on familial myeloproliferative syndromes, they characterized one of the first locus responsible for the ... Until now, he has kept a hematology consultation at Saint Louis Hospital. William Vainchenker has always worked on ... Saint-Martin C, Di Stefano A, Lenglet G, Marty C, Keren B, Pasquier F, Valle VD, Secardin L, Leroy G, Mahfoudhi E, Grosjean S, ...
List of OMIM disorder codes
GP1BA Bernard-Soulier syndrome, type A; 231200; GP1BA Bernard-Soulier syndrome, type B; 231200; GP1BB Bernard-Soulier syndrome ... H19 Beckwith-Wiedemann syndrome; 130650; KCNQ10T1 Beckwith-Wiedemann syndrome; 130650; NSD1 Bernard-Soulier syndrome, benign ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ...
Bernard-Soulier syndrome
The syndrome, identified in the year 1948, is named after Dr. Jean Bernard and Dr. Jean Pierre Soulier. Gray platelet syndrome ... "Orphanet: Bernard Soulier syndrome". www.orpha.net. Retrieved 2016-07-17. Richmond, Caroline (10 June 2006). "Jean Bernard". ... Online Mendelian Inheritance in Man (OMIM): GIANT PLATELET SYNDROME - 231200 Pham A, Wang J (2007). "Bernard-Soulier syndrome: ... Bernard-Soulier syndrome (BSS), is a rare autosomal recessive bleeding disorder that is caused by a deficiency of the ...
List of syndromes
... syndrome Berdon syndrome Berk-Tabatznik syndrome Bernard-Soulier syndrome Berserk llama syndrome Bhaskar-Jagannathan syndrome ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...
BSS
... the active ingredient in several medications Bernard-Soulier syndrome, a bleeding disorder Bristol Stool Scale, a medical aid ... Palmer album Brave Saint Saturn, an American Christian rock band Broken Social Scene, a Canadian indie rock band Buraka Som ...
SH2D1A
Stern MH, Soulier J, Rosenzwajg M, Nakahara K, Canki-Klain N, Aurias A, Sigaux F, Kirsch IR (Sep 1993). "MTCP-1: a novel gene ... Nichols KE, Harkin DP, Levitz S, Krainer M, Kolquist KA, Genovese C, Bernard A, Ferguson M, Zuo L, Snyder E, Buckler AJ, Wise C ... Li C, Iosef C, Jia CY, Han VK, Li SS (Feb 2003). "Dual functional roles for the X-linked lymphoproliferative syndrome gene ... Sylla BS, Murphy K, Cahir-McFarland E, Lane WS, Mosialos G, Kieff E (Jun 2000). "The X-linked lymphoproliferative syndrome gene ...
Haemophilia C
Bleeding diathesis Bernard-Soulier syndrome Von Willebrand disease Vitamin K deficiency Congenital afibrinogenemia Coagulopathy ... Haemophilia C (also known as plasma thromboplastin antecedent (PTA) deficiency or Rosenthal syndrome) is a mild form of ...
Virus latency
Hacein-Bey-Abina, S; Garrigue, A; Wang, GP; Soulier, J; Lim, A; Morillon, E; Clappier, E; Caccavelli, L; Delabesse, E; Beldjord ... after which five developed leukemia-like syndromes. This is also seen with infections of the human papilloma virus in which ... Bernard; Whitley, Richard; Yamanishi, Koichi (eds.). Human Herpesviruses: Biology, Therapy, and Immunoprophylaxis. Cambridge ...
Soulier
French bishop Bernard-Soulier syndrome Shoemaker (surname) Dictionary of American Family Names. "Soulier Family History", ... Constant Soulier (1897-1933), French pilot Fabrice Soulier (born 1969), French poker player Jean-Pierre Soulier (1755-1812), ... Soulier is a French occupational surname which means "shoemaker", from the Old French soulier meaning "shoe" or "sandal". The ... French musician Jean Pierre Soulier (1915-2003), French physician Léon-Raymond Soulier (born 1924), ...
Bernard-Soulier syndrome: MedlinePlus Genetics
Bernard-Soulier syndrome is a bleeding disorder associated with abnormal platelets, which are blood cells involved in blood ... medlineplus.gov/genetics/condition/bernard-soulier-syndrome/ Bernard-Soulier syndrome. ... Bernard-Soulier syndrome is caused by mutations in one of three genes: GP1BA, GP1BB, or GP9. The proteins produced from these ... Rare cases of Bernard-Soulier syndrome caused by mutations in the GP1BA or GP1BB gene are inherited in an autosomal dominant ...
Bernard-Soulier syndrome - Wikipedia
The syndrome, identified in the year 1948, is named after Dr. Jean Bernard and Dr. Jean Pierre Soulier. Gray platelet syndrome ... "Orphanet: Bernard Soulier syndrome". www.orpha.net. Retrieved 2016-07-17. Richmond, Caroline (10 June 2006). "Jean Bernard". ... Online Mendelian Inheritance in Man (OMIM): GIANT PLATELET SYNDROME - 231200 Pham A, Wang J (2007). "Bernard-Soulier syndrome: ... Bernard-Soulier syndrome (BSS), is a rare autosomal recessive bleeding disorder that is caused by a deficiency of the ...
Bernard-Soulier Syndrome: Practice Essentials, Background, Pathophysiology and Etiology
Bernard-Soulier syndrome (BSS) was first described in 1948 as a congenital bleeding disorder characterized by thrombocytopenia ... encoded search term (Bernard-Soulier Syndrome) and Bernard-Soulier Syndrome What to Read Next on Medscape. Related Conditions ... Bernard-Soulier syndrome (BSS) is one of a group of hereditary platelet disorders characterized by thrombocytopenia, giant ... Bernard Soulier syndrome in pregnancy: a systematic review. Haemophilia. 2010 Jul 1. 16(4):584-91. [Medline]. ...
Bernard-Soulier syndrome | Haematologica
Bernard-Soulier syndrome: phenotype. Bernard-Soulier syndrome is characterized clinically by a history of epistaxis, gingival ... Bernard-Soulier syndrome: genotype. A large number of mutations in GPIbα, GPIbβ and GPIX have now been described that are ... Does Bernard-Soulier syndrome genotype correlate with the severity of bleeding?. In this issue, Savoia and colleagues begin to ... 1993) Point mutation in a leucine-rich repeat of platelet glycoprotein Ibα resulting in the Bernard-Soulier syndrome. J Clin ...
Bernard-Soulier syndrome
... Subscriber Sign In VisualDx Mobile Feedback Select Language Share ... 54569005 - Bernard Soulier syndrome. Differential Diagnosis & Pitfalls. *Hemophilia - because of unknown bleeding ... Bernard-Soulier syndrome Print Images (1) Contributors: Carla Casulo MD. Other Resources UpToDate PubMed ...
Bernard-Soulier syndrome - Academic Kids
Look for Bernard-Soulier syndrome in Wiktionary, our sister dictionary project. * Look for Bernard-Soulier syndrome in the ... Start the Bernard-Soulier syndrome article (https://academickids.com:443/encyclopedia/index.php?title=Bernard-Soulier_syndrome& ... Search for Bernard-Soulier syndrome in other articles. * ... Bernard-Soulier_syndrome&action=purge), otherwise please wait ... Retrieved from "https://academickids.com:443/encyclopedia/index.php/Bernard-Soulier_syndrome" ...
Suspected Bernard-Soulier syndrome, 4. | British Society for Haematology
Bernard-Soulier syndrome | Taber's Medical Dictionary
Bernard-Soulier syndrome answers are found in the Tabers Medical Dictionary powered by Unbound Medicine. Available for iPhone ... syndrome. Bernard-Soulier Syndrome [Internet]. In: Venes D, editors. Tabers Medical Dictionary. F.A. Davis Company; 2017. [ ... syndrome. Accessed August 24, 2019.. Bernard-Soulier syndrome. (2017). In Venes, D. (Ed.), Tabers Medical Dictionary. ... "Bernard-Soulier Syndrome." Tabers Medical Dictionary, 23rd ed., F.A. Davis Company, 2017. Tabers Online, www.tabers.com/ ...
Misdiagnosis of Bernard-Soulier Syndrome - RightDiagnosis.com
Misdiagnosis of Bernard-Soulier Syndrome including hidden diseases, diagnosis mistakes, alternative diagnoses, differential ... When checking for a misdiagnosis of Bernard-Soulier Syndrome or confirming a diagnosis of Bernard-Soulier Syndrome, it is ... Common Misdiagnoses and Bernard-Soulier Syndrome. Unnecessary hysterectomies due to undiagnosed bleeding disorder in women: The ... These alternate diagnoses of Bernard-Soulier Syndrome may already have been considered by your doctor or may need to be ...
Cure Research for Bernard-Soulier Syndrome - RightDiagnosis.com
Medical research for Bernard-Soulier Syndrome including cure research, prevention research, diagnostic research, and basic ... Gray Platelet Syndrome *Factor VII (Treatment) *Bernard Soulier Syndrome *Thrombasthenia (Overview) *Bernard-Soulier Syndrome ( ... Clinical Trials for Bernard-Soulier Syndrome. Some of the clinical trials for Bernard-Soulier Syndrome include: *Studies of the ... Bernard-Soulier Syndrome (Treatment) *Platelet Disorders (Overview) *Bernard-Soulier syndrome *May-Hegglin Anomaly (Diagnosis) ...
Bernard-Soulier syndrome (Hemorrhagiparous thrombocytic dystrophy). - Inserm
The syndrome is transmitted as an autosomal recessive trait. The underlying defect is a deficiency or dysfunction of the ... This syndrome is extremely rare as only ~100 cases have been reported in the literature. Clinical manifestations usually ... Bernard-Soulier syndrome (BSS), also known as Hemorrhagiparous thrombocytic dystrophy, is a hereditary bleeding disorder ... Bernard-Soulier syndrome (Hemorrhagiparous thrombocytic dystrophy). François Lanza 1, * Details. * Corresponding author ...
Bernard-Soulier syndrome, type A
... Common Name(s). Bernard-Soulier syndrome, type A ... "Bernard-Soulier syndrome, type A" (open studies are recruiting volunteers) and 0 "Bernard-Soulier syndrome, type A" studies ... Type A Bernard-Soulier syndrome is different from others because of the specific gene that is affected. Talk with your doctor ... Bernard-Soulier syndrome, also known as hemorrhagiparous thrombocytic dystrophy, is a rare disorder that prevents a person from ...
Bernard-Soulier Syndrome
What is Bernard-Soulier syndrome? Bernard-Soulier Syndome (also called Giant Platelet Syndrome) is a disorder of platelet ... Bernard-Soulier syndrome is inherited from both parents and can occur in both men and women. The prevalence of Bernard-Soulier ... Patients with Bernard-Soulier syndrome have a defective or absent glycoprotein called GP Ib/IX/V. Platelets may be abnormally ... In Bernard-Soulier Syndrome, platelets only clump together normally in the presence of ristocetin. A second confirmatory test ...
Bernard-Soulier syndrome - wikidoc
Bernard-Soulier syndrome, type A1 17p13.2 Autosomal Recessive GP1BA 606672 Bernard-Soulier syndrome, type B 22q11.21 Autosomal ... Differentiating Bernard-Soulier syndrome from Other Disease. *Bernard-Soulier syndrome must be differentiated from[58][59] [60] ... The severity of Bernard-Soulier syndrome increases with age.. *Bernard-Soulier syndrome commonly affects infants than younger ... Bernard-Soulier syndrome may be classified into 4 subtypes. Bernard-Soulier syndrome is the result of the absence or decreased ...
BERNARD-SOULIER SYNDROME, TYPE A1
Platelet Disorders: Overview of Platelet Disorders, Pathophysiology of Platelet Disorders, Autoimmune Thrombocytopenias
Bernard-Soulier syndrome. Bernard-Soulier syndrome results from a deficiency of platelet glycoprotein protein Ib, which ... Glanzmann thrombasthenia, Bernard-Soulier syndrome, and most mild von Willebrand diseases are associated with a prolonged ... Bernard-Soulier syndrome: an update. Semin Thromb Hemost. 2013 Sep. 39 (6):656-62. [Medline]. ... Rare disorders, such as Bernard-Soulier syndrome, can be diagnosed based on the results from the peripheral smear (see image ...
Total Hip Arthroplasty in A Young Patient with Bernard-Soulier Syndrome | Journal of Orthopaedic Case Reports
Bernard-Soulier Syndrome (BSS) is an extremely rare disorder, affecting 1 in 1 million individuals worldwide. It is caused by a ... Bernard-Soulier syndrome: an inherited platelet disorder. Arch Pathol Lab Med. 2007 Dec;131(12):1834-6.. 3. Bernard J., Soulier ... Bernard-Soulier Syndrome (BSS) is an extremely rare disorder, affecting 1 in 1 million individuals worldwide. It is caused by a ... Total Hip Arthroplasty in A Young Patient with Bernard-Soulier Syndrome. Posted on Apr 7, 2014 in April - June 2014, Volume 4 ...
Hennekam Lymphangiectasia Research Paper | ipl.org
HENNEKAM LYMPHANGIECTASIA SYNDROME ABSTRACT Hennekam Lymphangiectasia Syndrome is a rare autosomal recessive condition. Onset ... Bernard Soulier Syndrome Essay. 1012 Words , 5 Pages. Bernard-Soulier syndrome is an inherited platelet disorder caused by a ... HENNEKAM LYMPHANGIECTASIA SYNDROME ABSTRACT Hennekam Lymphangiectasia Syndrome is a rare autosomal recessive condition. Onset ... The syndrome is characterized by the association of lymphedema, intestinal lymphangiectasia, intellectual defecit and facial ...
What Is Genetic Disorder - Bernard Soulier Syndrome - Medicalrealm
Patient with Bernard Soulier syndrome is predisposed to excessive bleeding which lead to l ... Patient with Bernard Soulier syndrome may present with symptoms and signs such as prolonged bleeding time,epistaxis, dental ... What Is Genetic Disorder - Bernard Soulier Syndrome Bernard Soulier Syndrome Patient with Bernard Soulier syndrome may present ... Bernard Soulier Syndrome is an autosomal recessive disorder. Bernard Soulier syndrome occurs due to deficiency or absent of the ...
Primigravida with Bernard-Soulier Syndrome: a case report. | BMC Res Notes;8: 178, 2015 May 01. | MEDLINE
Primigravida with Bernard-Soulier Syndrome: a case report. Macêdo, Marina Barguil; Brito, Janaína de Moraes Machado; Macêdo, ... Bernard-Soulier Syndrome is a rare congenital bleeding disorder, mainly inherited in an autosomal recessive pattern. It is ... The peripartum period is regarded as the most crucial moment of pregnancy in women with Bernard-Soulier Syndrome, hence the ... Primigravida with Bernard-Soulier Syndrome: a case report. ... Síndrome de Bernard-Soulier Tipo de estudo: Relato de casos ...
Bernard-Soulier Syndrome; BSS & giant platelet information. Patient | Patient
Bernard-Soulier Syndrome is a congenital bleeding disorder characterised by thrombocytopenia and large platelets. Bernard- ... Bernard-Soulier Syndrome. Authored by Dr Hayley Willacy , Last edited 20 Apr 2011. ... Toogeh G, Keyhani M, Sharifian R, et al; A study of Bernard-Soulier syndrome in Tehran, Iran. Arch Iran Med. 2010 Nov13(6):549- ... Desmopressin acetate (DDAVP®) has been shown to shorten the bleeding time in some patients with Bernard-Soulier syndrome.[9] It ...
Bleeding Disorders - Symptoms - Causes - Types - Diagnosis - Treatment - FAQs
GP9 gene - Genetics Home Reference
At least 28 GP9 gene mutations have been found to cause Bernard-Soulier syndrome, a condition characterized by a reduced number ... Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIbβ and a ... Spectrum of the mutations in Bernard-Soulier syndrome. Hum Mutat. 2014 Sep;35(9):1033-45. doi: 10.1002/humu.22607. Epub 2014 ... leading to the bleeding problems associated with Bernard-Soulier syndrome. ...
Molecular characterization of two mutations in platelet glycoprotein (GP) Ibα in two Finnish Bernard-Soulier syndrome families ...
... u03b1 in two Finnish Bernard-Soulier syndrome families;s:8:\u0000*\u0000place;s:6:Oxford;s:6:\u0000*\u0000pub;s:9 ... u03b1 in two Finnish Bernard-Soulier syndrome families;s:8:\u0000*\u0000place;s:6:Oxford;s:6:\u0000*\u0000pub;s:9 ... u03b1 in two Finnish Bernard-Soulier syndrome families;s:8:\u0000*\u0000place;s:6:Oxford;s:6:\u0000*\u0000pub;s:9 ...
Primigravida with Bernard-Soulier Syndrome: a case report | BMC Research Notes | Full Text
The peripartum period is regarded as the most crucial moment of pregnancy in women with Bernard-Soulier Syndrome, hence the ... Bernard-Soulier Syndrome is a rare congenital bleeding disorder, mainly inherited in an autosomal recessive pattern. It is ... Macêdo, M.B., Brito, J.d.M.M., Macêdo, P.d.S. et al. Primigravida with Bernard-Soulier Syndrome: a case report. BMC Res Notes 8 ... Bernard-Soulier syndrome is a platelet disorder inherited most often as a recessive trait. As so, consanguinity must be sought ...
September 2015 - Volume 26 - Issue 6 : Journal of Craniofacial Surgery
Dental Extractions Management in Bernard-Soulier Syndrome. Ruiz-Roca, JA; Oñate-Sánchez, RE; Cabrerizo-Merino, MC; More ... Distinguishing Goldenhar Syndrome from Craniofacial Microsomia. Tuin, Jorien; Tahiri, Youssef; Paliga, James T.; More ... Treating Parry-Romberg Syndrome Using Three-Dimensional Scanning and Printing and the Anterolateral Thigh Dermal Adipofascial ... Frontal Encephalocele Associated With a Bilateral Tessier Number Three Cleft and Fraser Syndrome. Wood, Benjamin C.; Yi, Sojung ...
Generation and rescue of a murine model of platelet dysfunction: the Bernard-Soulier syndrome
The human Bernard-Soulier syndrome is an autosomal recessive disorder of platelet dysfunction presenting with mild ... Generation and rescue of a murine model of platelet dysfunction: the Bernard-Soulier syndrome Academic Article ... The bleeding in patients with the Bernard-Soulier syndrome is disproportionately more severe than suggested by the reduced ... and describe a murine model recapitulating the hallmark characteristics of the human Bernard-Soulier syndrome. The results ...
Bernard-Soulier Disease Treatment & Diagnosis
... a giant platelet syndrome, is a hereditary blood disorder. Read about causes, symptoms, signs, disease diagnosis, and treatment ... Bernard-Soulier Disease (Giant Platelet Syndrome). * Facts *What is Bernard-Soulier syndrome? ... home/healthy kids health center/healthy kids a-z list/bernard-soulier disease center /bernard-soulier disease article ... The Bernard-Soulier syndrome (B-SS) is a rare inherited bleeding disorder caused by abnormal platelets and subsequent abnormal ...
Antiphospholipid syndrome - Wikipedia
Bernard-Soulier syndrome. *aggregation *Glanzmanns thrombasthenia. *platelet storage pool deficiency *Hermansky-Pudlak ... Antiphospholipid syndrome or antiphospholipid antibody syndrome (APS or APLS), is an autoimmune, hypercoagulable state caused ... They published the first papers in 1983.[16][17] The syndrome was referred to as "Hughes syndrome" among colleagues after the ... Antiphospholipid syndrome can be primary or secondary. Primary antiphospholipid syndrome occurs in the absence of any other ...
PlateletsBleeding disorderThrombocytopeniaGlycoproteinDeficiencyDescribed in 1948Glanzmann'sPhenotypeDisorders1948PatientsMutationsAbnormalitiesGP1BADiagnosisSymptomsGeneAutosomal dominantOMIMRare autosomal recessiveMenorrhagiaPatientAcute respiratHemorrhagiparousPregnancyDiseaseClinicalGiantHemorrhageGPIbOccurBerndtThrombotic thromboGeneticPrevalenceHallmark
Platelets27
- Bernard-Soulier syndrome is a bleeding disorder associated with abnormal platelets, which are blood cells involved in blood clotting. (medlineplus.gov)
- In terms of diagnosis Bernard-Soulier syndrome is characterized by prolonged bleeding time, thrombocytopenia, increased megakaryocytes, and enlarged platelets, Bernard-Soulier syndrome is associated with quantitative or qualitative defects of the platelet glycoprotein complex GPIb/V/IX. (wikipedia.org)
- Bernard-Soulier syndrome (BSS) is one of a group of hereditary platelet disorders characterized by thrombocytopenia, giant platelets, and qualitative platelet defects resulting in bleeding tendency. (medscape.com)
- Peripheral smear of patient with Bernard-Soulier syndrome (BSS) showing giant platelets. (medscape.com)
- Bernard-Soulier syndrome (BSS) was first described in 1948 as a congenital bleeding disorder characterized by thrombocytopenia and large platelets. (medscape.com)
- GPIb/IX/V complex is located in the platelet cytoskeleton and hence is also essential to the production of platelets from the megakaryocytes in the bone marrow (which explains the large size and decreased numbers of platelets in this syndrome). (medscape.com)
- Bernard-Soulier syndrome (BSS) is an inherited, usually autosomal recessive, platelet bleeding abnormality, characterized by a prolonged bleeding time, large platelets and thrombocytopenia. (haematologica.org)
- Bernard-Soulier syndrome (BSS), also known as Hemorrhagiparous thrombocytic dystrophy, is a hereditary bleeding disorder affecting the megakaryocyte/platelet lineage and characterized by bleeding tendency, giant blood platelets and low platelet counts. (inserm.fr)
- While people affected by Benard-Soulier syndrome have large platelets, they do not have enough. (diseaseinfosearch.org)
- Patients with Bernard-Soulier syndrome have a defective or absent glycoprotein called GP Ib/IX/V. Platelets may be abnormally large, they may not stick to each other, or there may not be enough platelets. (rarebleedingdisorders.com)
- In Bernard-Soulier Syndrome, platelets only clump together normally in the presence of ristocetin. (rarebleedingdisorders.com)
- GP Ib/IX/V is not detectable on platelets in patients with Bernard-Soulier Syndrome. (rarebleedingdisorders.com)
- Bernard-Soulier syndrome patients given platelets containing normal glycoproteins can develop reactions since these patients don't have these proteins. (rarebleedingdisorders.com)
- Bernard-Soulier syndrome (BSS) belongs to one the rare hereditary platelet disorders.Bernard-Soulier syndrome chaterstically shows giant platelets and thrombocytopenia . (wikidoc.org)
- Bernard-Soulier syndrome is the result of the absence or decreased expression of the GPIb /IX/V complex on the surface of the platelets . (wikidoc.org)
- Patients with Bernard-Soulier syndrome usually remarkable for dysfunctional platelets . (wikidoc.org)
- At least 28 GP9 gene mutations have been found to cause Bernard-Soulier syndrome, a condition characterized by a reduced number of platelets that are larger than normal (macrothrombocytopenia) and excessive bleeding. (nih.gov)
- Without GPIb-IX-V, platelets cannot come together at the site of an injury to form a clot, leading to the bleeding problems associated with Bernard-Soulier syndrome. (nih.gov)
- The human Bernard-Soulier syndrome is an autosomal recessive disorder of platelet dysfunction presenting with mild thrombocytopenia, circulating "giant" platelets and a bleeding phenotype. (scripps.edu)
- Moreover, using transgenic technology the murine Bernard-Soulier phenotype was rescued by expression of a human GP Ibalpha subunit on the surface of circulating mouse platelets. (scripps.edu)
- The Bernard-Soulier syndrome (B-SS) is a rare inherited bleeding disorder caused by abnormal platelets and subsequent abnormal clotting. (medicinenet.com)
- and Bernard-Soulier syndrome, characterized by unusually large platelets. (britannica.com)
- 3 In 1948, 2 French physicians, Jean Bernard and Jean-Pierre Soulier, first reported a severe bleeding disorder associated with thrombocytopenia and giant platelets, later shown to be characterized by decreased ristocetin-induced platelet agglutination. (bloodjournal.org)
- Patients with gray platelet syndrome (GPS) bleed longer than others because their platelets lack some of the protein-carrying sacs needed for a normal blood-clotting process. (pdsa.org)
- Bernard-Soulier syndrome is an autosomal recessive inherited disease (both parents must carry the genetic trait) caused by a defect in platelet glycoprotein complex 1b-IX-V. In addition to thrombocytopenia, people with Bernard-Soulier syndrome have very large platelets and platelet function defects that prompt much more bleeding at a particular platelet count than people with ITP. (pdsa.org)
- In Wiskott-Aldrich syndrome, the platelets are small and do not function properly. (wikidoc.org)
- Bernard-Soulier Syndrome is a rare inherited blood clotting (coagulation) disorder characterized by abnormalities of platelets. (rarediseases.org)
Bleeding disorder5
- Bernard-Soulier syndrome (BSS), is a rare autosomal recessive bleeding disorder that is caused by a deficiency of the glycoprotein Ib-IX-V complex (GPIb-IX-V), the receptor for von Willebrand factor. (wikipedia.org)
- Bernard-Soulier syndrome often presents as a bleeding disorder with symptoms of: Perioperative (and postoperative) bleeding Bleeding gums Bruising Epistaxis (nosebleeds) Abnormal bleeding (from small injuries) Unusual menstrual periods In regards to mechanism, there are three genes: GP1BA, GP1BB and GP9 that are involved (due to mutations). (wikipedia.org)
- Bernard-Soulier Syndrome is a rare congenital bleeding disorder, mainly inherited in an autosomal recessive pattern. (bvsalud.org)
- Bernard-Soulier syndrome (BSS) is a rare severe autosomal recessive bleeding disorder. (cdc.gov)
- The best recognized inherited bleeding disorder involving the GPIb-IX-V complex is the Bernard-Soulier syndrome (BSS), an autosomal recessive disorder arising from homozygous or compound heterozygous variants of GP1BA , GP1BB , and GP9 . (bloodjournal.org)
Thrombocytopenia11
- Thrombocytopenia-absent radius syndrome. (patient.info)
- It is important to distinguish this syndrome from other platelet disorders (such as von Willebrand disease and immune thrombocytopenia purpura), since the treatments and management differ. (medicinenet.com)
- What is the difference between a quantitative defect, such as thrombocytopenia, and qualitative defects, such as Bernard-Soulier or Thrombasthenia of Glansman and Naegeli? (brainscape.com)
- Diseases associated with GP9 include Bernard-Soulier Syndrome, Type C and Thrombocytopenia . (genecards.org)
- Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema , thrombocytopenia (low platelet counts), immune deficiency , and bloody diarrhea (due to the low platelet counts). (wikidoc.org)
- It is also sometimes called the eczema-thrombocytopenia-immunodeficiency syndrome in keeping with Aldrich's original description in 1954. (wikidoc.org)
- It was later discovered that the disease X-linked thrombocytopenia (XLT) was also due to WASp mutations , but different ones from those that cause full-blown Wiskott-Aldrich syndrome. (wikidoc.org)
- Albers CA, Newbury‐Ecob R, Ouwehand WH and Ghevaert C (2013) New insights into the genetic basis of TAR (thrombocytopenia‐absent radii) syndrome. (els.net)
- These patients most likely have an acute infection, heparin-induced thrombocytopenia, liver disease, thrombotic thrombocytopenic purpura/hemolytic uremic syndrome, disseminated intravascular coagulation, or a hematologic disorder. (aafp.org)
- During pregnancy, preeclampsia and the HELLP (hemolysis, elevated liver enzymes, and low platelet count) syndrome are associated with thrombocytopenia. (aafp.org)
- Patients older than 60 years with thrombocytopenia should be evaluated for myelodysplastic syndrome or lymphoproliferative disorders. (aafp.org)
Glycoprotein7
- Bernard-Soulier syndrome may be caused by abnormality in the genes for glycoprotein Ib/IX/V. The prevalence of Bernard-Soulier syndrome is approximately 1 per 100,000 individuals worldwide. (wikidoc.org)
- Bernard Soulier syndrome occurs due to deficiency or absent of the glycoprotein Ib receptor on the surface of the platelet. (medicalrealm.net)
- In Bernard Soulier syndrome, bleeding may occur due to defect in platelet adhesion as a result of defect in the glycoprotein Ib receptor. (medicalrealm.net)
- The bleeding in patients with the Bernard-Soulier syndrome is disproportionately more severe than suggested by the reduced platelet count and is explained by a defect in primary hemostasis owing to the absence of the platelet glycoprotein (GP) Ib-IX-V membrane receptor. (scripps.edu)
- The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. (genecards.org)
- 15.Ware J. Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome / J. Ware, SR. Russell, P. Marchese, et al. (medline.ru)
- Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease / JL. (medline.ru)
Deficiency1
- What is the deficiency in Bernard-Soulier Syndrome? (brainscape.com)
Described in 19481
- This syndrome was originally described in 1948 by two physicians who were treating a patient with a bleeding problem. (medicinenet.com)
Glanzmann's3
- Gray platelet syndrome Glanzmann's thrombasthenia von Willebrand disease May-Hegglin anomaly Lanza F (2006). (wikipedia.org)
- Molecular abnormalities in Glanzmann's thrombasthenia, Bernard-Soulier syndrome, and platelet-type von Willebrand's disease. (medscape.com)
- Much rarer genetic forms of the disorder include Bernard-Soulier syndrome, Glanzmann's thrombasthenia and Wiskott-Aldrich syndrome. (wisegeek.com)
Phenotype1
- Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study. (medlineplus.gov)
Disorders6
- Other disorders in the category of macrothrombocytopenia are the May-Hegglin anomaly and gray platelet syndrome. (medscape.com)
- Patients with platelet function disorders like Bernard-Soulier may need to have treatment in addition to local (eg. (rarebleedingdisorders.com)
- Other inherited giant platelet disorders, eg grey platelet syndrome . (patient.info)
- Because there are other platelet disorders that can present similar symptoms, it is important to talk to your doctor if you experience any of the symptoms associated with Bernard- Soulier syndrome, or if you are concerned about your platelet count or MPV. (reference.com)
- The other giant platelet disorders related to May-Hegglin Anomaly are Sebastian Syndrome, Fechtner Syndrome, Epstein Syndrome, and the Alport-like Syndrome with macrothrombocytopenia. (rarediseases.org)
- Some of these disorders are unique to pregnancy, such as pre-eclampsia or HELLP syndrome. (clinicaladvisor.com)
19484
- The syndrome, identified in the year 1948, is named after Dr. Jean Bernard and Dr. Jean Pierre Soulier. (wikipedia.org)
- Bernard-Soulier syndrome (BSS) was first discovered in 1948. (wikidoc.org)
- Bernard-Soulier syndrome (BSS) was first discovered in 1948 in a young male by Jean Bernard and Jean-Pierre Soulier who are hematologists from french. (wikidoc.org)
- Since it was first described by Jean Bernard and Jean-Pierre Soulier, in 1948, more than a hundred individuals were given the diagnosis worldwide, but only twenty-one women with the syndrome had their pregnancies reported on indexed journals up until now [ 3 , 5 ]. (biomedcentral.com)
Patients9
- Care of patients with Bernard-Soulier syndrome (BSS) is generally supportive. (medscape.com)
- The bleeding time test (not commonly used anymore), which looks at the time it takes for a very small cut to stop bleeding, will be long in patients with Bernard-Soulier Syndrome. (rarebleedingdisorders.com)
- If left untreated, patients with Bernard-Soulier syndrome may progress to develop bleeding manifestations like mucocutaneous bleedings, prolonged bleeding . (wikidoc.org)
- Desmopressin acetate (DDAVP®) has been shown to shorten the bleeding time in some patients with Bernard-Soulier syndrome. (patient.info)
- A defect in CD43 molecule has been found to be associated in patients with Wiskott-Aldrich syndrome. (wikidoc.org)
- Post-treatment Lyme disease syndrome Lingering symptoms, which may persist for more than 6 months, affect 10-20% of patients who receive recommended treatment for Lyme disease. (tripdatabase.com)
- Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. (wikipathways.org)
- Patients with myelodysplastic syndrome usually will present with anemia and lymphoma with lymphadenopathy. (aafp.org)
- Pregnant patients with platelet counts greater than 115 × 10 3 per μL (115 × 10 9 per L) and no evidence of preeclampsia or HELLP (hemolysis, elevated liver enzymes, and low platelet count) syndrome do not require further evaluation. (aafp.org)
Mutations3
- All of these mutations impair clot formation, which leads to the excessive bleeding characteristic of Bernard-Soulier syndrome. (medlineplus.gov)
- Wiskott-Aldrich syndrome was linked in 1994 to mutations in a gene on the short arm of the X chromosome , which was termed Wiskott-Aldrich syndrome protein ( WASp ). (wikidoc.org)
- GP1BA mutations are associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. (thefreedictionary.com)
Abnormalities1
- Quantitative or qualitative abnormalities either in the GpIb-V-IX complex (in Bernard-Soulier syndrome) or in VWF (in von Willebrand disease [VWD]) are accompanied by impaired hemostasis and increased bleeding risk. (bloodjournal.org)
GP1BA1
- Biallelic variants in GP1BA , GP1BB , and GP9 result in Bernard-Soulier syndrome. (bloodjournal.org)
Diagnosis3
- The differential diagnosis for Bernard-Soulier syndrome includes both Glanzmann thrombasthenia and pediatric Von Willebrand disease. (wikipedia.org)
- When checking for a misdiagnosis of Bernard-Soulier Syndrome or confirming a diagnosis of Bernard-Soulier Syndrome, it is useful to consider what other medical conditions might be possible misdiagnoses or other alternative conditions relevant to diagnosis. (rightdiagnosis.com)
- acanthosis nigricans, acrochordons and syndactyly consistent with a diagnosis of Hennekam syndrome. (ipl.org)
Symptoms5
- Other symptoms of people affected with Bernard-Soulier syndrome are bleeding gums (the area around your teeth), easy bruising, and heavy menstrual periods. (diseaseinfosearch.org)
- Patient with Bernard Soulier syndrome may present with symptoms and signs such as prolonged bleeding time,epistaxis, dental bleeding, menorrhagia and easy bruising. (medicalrealm.net)
- What are Bernard-Soulier syndrome symptoms and signs? (medicinenet.com)
- Symptoms of Bernard- Soulier syndrome typically emerge in childhood, and can include excessive bleeding and bruising, nosebleeds, and bleeding gums. (reference.com)
- These symptoms are associated with Ehlers-Danlos syndrome (EDS). (healthline.com)
Gene6
- Type A Bernard-Soulier syndrome is different from others because of the specific gene that is affected. (diseaseinfosearch.org)
- We have disrupted the gene encoding the alpha-subunit of mouse GP Ib-IX-V (GP Ibalpha) and describe a murine model recapitulating the hallmark characteristics of the human Bernard-Soulier syndrome. (scripps.edu)
- This means that both parents must carry a gene for the Bernard-Soulier syndrome and transmit that gene to the child for the child to have the disease. (medicinenet.com)
- The Bernard-Soulier gene has been mapped to the short (p) arm of chromosome 17 (in the region 17pter-17p12). (medicinenet.com)
- We report a family with Bernard-Soulier syndrome with a homozygous mutation within the GPIbβ gene. (elsevier.com)
- Goosecoid-like, a gene deleted in DiGeorge and velocardiofacial syndromes, recognizes DNA with a bicoid-like specificity and is expressed in the developing mouse brain. (wikipathways.org)
Autosomal dominant1
- also known as autosomal dominant benign Bernard-Soulier syndrome. (proteopedia.org)
OMIM1
- Online Mendelian Inheritance in Man (OMIM): GIANT PLATELET SYNDROME - 231200 Pham A, Wang J (2007). (wikipedia.org)
Rare autosomal recessive1
- HENNEKAM LYMPHANGIECTASIA SYNDROME ABSTRACT Hennekam Lymphangiectasia Syndrome is a rare autosomal recessive condition. (ipl.org)
Menorrhagia1
- Women with Bernard-Soulier syndrome often have heavy or prolonged menstrual bleeding (menorrhagia). (medlineplus.gov)
Patient4
- Patient with Bernard Soulier syndrome is predisposed to excessive bleeding which lead to low platelet count. (medicalrealm.net)
- Patient with Bernard Soulier syndrome is treated with red blood cell and platelet transfusion as well as avoidance of any anti platelet medication. (medicalrealm.net)
- Pregnancy in a woman with this uncommon syndrome must be carefully monitored, once it is a singular situation in which the patient is especially susceptible to bleeding episodes, which could translate into maternal and neonatal unfavorable outcomes [ 4 ]. (biomedcentral.com)
- Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome. (wikipathways.org)
Acute respirat1
- [3] There are several possible risks to treating coagulopathies, such as transfusion-related acute lung injury , acute respiratory distress syndrome , multiple organ dysfunction syndrome , major hemorrhage , and venous thromboembolism . (wikipedia.org)
Hemorrhagiparous1
- Bernard-Soulier syndrome , also known as hemorrhagiparous thrombocytic dystrophy, is a rare disorder that prevents a person from being able to stop bleeding after an injury or surgery. (diseaseinfosearch.org)
Pregnancy6
- The peripartum period is regarded as the most crucial moment of pregnancy in women with Bernard-Soulier Syndrome , hence the importance of a judiciously planned mode of delivery, and of careful prophylaxis against bleeding beforehand. (bvsalud.org)
- Bernard-Soulier syndrome in pregnancy. (patient.info)
- Bernard Soulier syndrome in pregnancy: a systematic review. (patient.info)
- Antiphospholipid syndrome often requires treatment with anticoagulant medication such as heparin to reduce the risk of further episodes of thrombosis and improve the prognosis of pregnancy. (wikipedia.org)
- Antiphospholipid syndrome can cause arterial or venous blood clots , in any organ system, or pregnancy -related complications. (wikipedia.org)
- The antiphospholipid syndrome responsible for most of the miscarriages in later trimesters seen in concomitant systemic lupus erythematosus and pregnancy . (wikipedia.org)
Disease8
- Bernard-Soulier syndrome (BSS)/ Hemorrhage parous thrombocytic dystrophy / Congenital hemorrhagic parous thrombocytic dystrophy is very rare disease and it occurs less than 1 case per million population. (wikidoc.org)
- Orthopaedic Manifestation of Bernard Soulier Disease and Management. (jocr.co.in)
- Primary antiphospholipid syndrome occurs in the absence of any other related disease. (wikipedia.org)
- Antiphospholipid syndrome is an autoimmune disease , in which "antiphospholipid antibodies" (anticardiolipin antibodies and lupus anticoagulant) react against proteins that bind to anionic phospholipids on plasma membranes . (wikipedia.org)
- The syndrome can be divided into primary (no underlying disease state) and secondary (in association with an underlying disease state) forms. (wikipedia.org)
- Bernard-Soulier syndrome is a rare inherited disease and is transmitted in an autosomal recessive pattern. (medicinenet.com)
- The syndrome is named after Dr Robert Anderson Aldrich, an American pediatrician who described the disease in a family of Dutch-Americans in 1954, and Dr Alfred Wiskott, a German pediatrician who first noticed the syndrome in 1937. (wikidoc.org)
- For more information on this disorder, choose "Bernard- Soulier" as your search term in the Rare Disease Database. (rarediseases.org)
Clinical2
- Finding the right clinical trial for Bernard-Soulier syndrome, type A can be challenging. (diseaseinfosearch.org)
- There is sufficient evidence to recommend routine screening for Bernard-Soulier syndrome with newer technologies in current clinical practice. (wikidoc.org)
Giant3
- Bernard-Soulier Syndome (also called Giant Platelet Syndrome) is a disorder of platelet function. (rarebleedingdisorders.com)
- It is one of the giant platelet syndromes. (medicinenet.com)
- This condition is also referred to as giant platelet syndrome. (reference.com)
Hemorrhage1
- Bernard-Soulier syndrome is characterized clinically by a history of epistaxis, gingival and cutaneous bleeding, and hemorrhage post trauma. (haematologica.org)
GPIb1
- McEwan PA, Yang W, Carr KH, Mo X, Zheng X, Li R, Emsley J. Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIbβ and a GPIbβ/GPIX chimera. (nih.gov)
Occur1
- Bernard-Soulier syndrome is inherited from both parents and can occur in both men and women. (rarebleedingdisorders.com)
Berndt1
- Andrews RK and Berndt MC (2013) Bernard‐Soulier syndrome: an update. (els.net)
Thrombotic thrombo1
- thrombotic thrombocytopenic purpura - hemolytic uremic syndrome (TTP/HUS). (clinicaladvisor.com)
Genetic1
- Gilbert syndrome: A common, harmless genetic condition in which a liver enzyme essential to the disposal of bilirubin (the chemical that results from the normal breakdown of hemoglobin from red blood cells) is abnormal. (medical-library.net)
Prevalence2
- The prevalence of Bernard-Soulier syndrome is not well known. (rarebleedingdisorders.com)
- The syndrome is rare - estimated prevalence is less than 1 per million. (patient.info)
Hallmark1
- The concept of "hemorrhagic diathesis" unites a group of different diseases and syndromes, the hallmark of which is pathological bleeding (spontaneous and provoked), which may be due to different pathogenetic mechanisms. (medline.ru)