Bernard-Soulier Syndrome
Physiology
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
Suspected Bernard-Soulier syndrome, 4. | British Society for Haematology
BERNARD-SOULIER SYNDROME, TYPE A1
Bernard-Soulier Syndrome, Type C
Parsing the repertoire of GPIb-IX-V disorders | Blood Journal
To delineate the critical top features of platelets necessary for balance | ATR inhibitors VE-821 and VX-970 sensitize cancer...
A critical role for gp96 in lymphopoiesis, thrombopoiesis, and intesti by Matthew M Staron
ALBLD - Overview: Bleeding Diathesis Profile, Limited, Plasma
Complete Blood Count Abnormal & Congenital Bleeding Diathesis<...
Comet observations
Спрашивайте, ответим. - Страница 75 - Форум
St. bernard best diet - Dieting Blog
How to Breed St. Bernards | Pets on Mom.com
A Dogs Death by Octave Mirbeau
Le Grand Miel, Bernard Michaud
Bernard Nathanson dies at 84
AUDRE AND BERNARD RAPOPORT ACADEMY rating and statistics Waco 76704
Evertons Bernard saw psychologist after anxiety attack
St. Bernard Insurance & Breed Info | Petplan
Bernard Eisenberg , DDS | Dentist in 21228
Dr Bernard Nawarski | Clare Park Hospital | Spire Healthcare
Visiting Hours | Intensive Care and Critical Care Unit Hours | St. Bernards Healthcare
Contact Us To Learn About Our Home Care | East Bernard, TX
Bernard
Bernard Rimland | Cortical Chauvinism
Bernard Membe arithi nafasi ya Maalim Seif, ateuliwa kuwa Mshauri Mkuu wa ACT Wazalendo | JamiiForums
Interview: Emmanuel Bernard on the Bean Validation specification
EBOOK or PDF (The Complete Sun Sign Guide) á Bernard Fitzwalter
Sharpes Prey de Bernard Cornwell | LibraryThing en català
St Bernards Hospital
Bernard Roths Profile | Stanford Profiles
Bernard Roths Profile | Stanford Profiles
Dr. Bernard Plesur, DDS - Hauppauge, NY - Dentistry | Healthgrades.com
Dr. Kary Bernard - Topeka, KS -
Family Doctor Reviews & Ratings
- RateMDs
WHAT IS LITERATURE? PHILOSOPHICAL LIBRARY NEW YORK JEAN-PAUL SARTRE BERNARD FRECHTMAN. Translated from the French - PDF
dpdk-test-report] |SUCCESS| pw65016 [PATCH] net/i40e: fix i40e flow director merge
Bernard Boutique is back and ready for Business
Bernard Francois, ses r sultats de course sur Kikourou
Patients Refusal of Recommended Treatment by Bernard Dickens, Rebecca J. Cook :: SSRN
Bernard Bel, auteur sur Alliance francophone pour laccouchement respecté
Bernard Poulin : lalliance du succès et du développement durable
Context: Haring, Bernard (1912- )
Some Thoughtful Tips About Traveling With A Pet
Giant platelet disorder - Wikipedia
GP1BA - Wikipedia
Inherited Platelet Disorders | Oncohema Key
Diagnose angeborener Störungen der Thrombozytenfunktion Interdisziplinäre S2K-Leitlinie der Ständigen Kommission Pädiatrie der...
PFA-100 (Platelet Function Analysis) - North West London Pathology
Eyecare Services - Soulier Eyecare Associates | Comprehensive Eyecare and Optometry in Fort Wayne, IN
Dr. Bernard Burri in Lausanne - Deindoktor.ch
Structural basis for the specific inhibition of glycoprotein Ib alpha shedding by an inhibitory antibody - Semantic Scholar
Giant Platelets in Treatment - Hepatitis Social - MedHelp
Named diseases | Master Of Medicine
The glycoprotein Ib-IX-V co... - Researchers - ANU
Sportscience History Makers - Bernard
Items where Subject is B Philosophy. Psychology. Religion | BL Religion - Repository Sekolah Tinggi Filsafat Katolik Ledalero
Nephrology | Find a Doctor | St. Bernard Hospital
Bernard A. Melendez, DDS|Goose Creek|1-800-DENTIST®
Bernard Defaix, Petit Chablis 2019
- HART & CRU
SOULAGES (CROWN ART LIBRARY) By Bernard Ceysson - Hardcover Excellent Condition 9780517541050 for sale online
Cost of Care | Hospital Healthcare Fees | St. Bernards Healthcare
Ship - Tregaskiss and Bernard
Bernard Arnault Contact Details, Email Address, and More
Fallen Bird, Bernard Meadows, 1958 |...
A Saint Bernard Dog Replica For Sale | 1st Art Gallery
Dr. Bernard Dingman, DMD - Park City, UT - Dentistry & Pediatric Dentistry | Healthgrades.com
Respite stay to full-time resident at Bernard Sunley care home
Hadassah To Pay $45 Million To Settle Claims in Bernard Madoff Ponzi Scheme - The Forward
Molecular Fluorescence (ebook) by Bernard Valeur | 9783527650026
Context: Bernard Shaws reconfiguration of family in You Never Can Tell
Interview: Bernard Hopkins, Oldest Boxing Champ
9780382250651: Achievement Motivation and Attribution Theory - AbeBooks - Bernard Weiner: 0382250656
Bernard Horn in Nashua, IA 50658 - ChamberofCommerce.com
Home Care Providers | Stroke Recovery Care | East Bernard, TX
Bishop Bernard Nyarko Comes into my Dreams - Kumawood Actors Mother
FEDERAL INLAID CANDLESTAND | | Bernard & S. Dean Levy
Items where Author or Editor is Peers, Bernard - Kölner UniversitätsPublikationsServer
Fools & Mortals - CORNWELL BERNARD - ST IVES BOOKSELLER
Bernard Madoff arrested over alleged $50 billion fraud - Page 3 - Quatloos!
DNA confined by surfaces - Bernard Pettitt
LibreCat - Publication List Manager
RoxyAmaya on Collarspace
safar | Ústav experimentální botaniky AV ČR, v. v. i.
droge huidreinigen
dr. Aurine Verkest
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 ...
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 ...
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 ...
Glanzmann's thrombasthenia
Platelet Coagulation Bernard-Soulier syndrome "Glanzmann thrombasthenia , Genetic and Rare Diseases Information Center (GARD ...
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. ...
Jean Bernard (physician)
Bernard gave his name to Bernard's syndrome and Bernard-Soulier syndrome. In all, Bernard published 14 textbooks and monographs ... Harousseau, Jean-Luc (July 2006). "[Jean Bernard.]". Bulletin du cancer. 93 (7): 659. PMID 16873073. Bernard, J (December 2000 ... Jean Bernard (26 May 1907 in Paris - 17 April 2006 in Paris) was a French physician and haematologist. He was professor of ... In 1932 Bernard gave the first description of the use of high dosage radiotherapy in the treatment of Hodgkin's disease. ...
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. ...
Platelet membrane glycoprotein
The deficiency in glycoprotein Ib-IX-V complex synthesis leads to Bernard-Soulier syndrome. Glycoprotein VI is one of the ...
Mean platelet volume
"Paris-Trousseau syndrome". MrLabTest. Retrieved 2022-05-10. Geil GD (7 August 2020). Yaish HM (ed.). "Bernard-Soulier Syndrome ... syndrome Mediterranean macrothrombocytopenia Bernard-Soulier syndrome MYH9-related disorders 21q11 deletion syndrome Chronic ... 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. ...
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
S2CID 40676013.{{cite journal}}: CS1 maint: multiple names: authors list (link) Pham A, Wang J. Bernard-Soulier syndrome: an ... 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 ...
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 ...
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, metabolic ... an association known as Heyde's syndrome. In thrombotic thrombocytopenic purpura (TTP) and hemolytic-uremic syndrome (HUS), ... July 2003). "Acquired von Willebrand syndrome in aortic stenosis". The New England Journal of Medicine. 349 (4): 343-349. doi: ...
Ristocetin
... and Bernard-Soulier syndrome. Platelet agglutination caused by ristocetin can occur only in the presence of von Willebrand ...
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), ...
Multiple electrode aggregometry
... as in Bernard-Soulier syndrome (BSS). RISTOtest can be performed in two concentrations; RISTOhigh and RISTOlow. In RISTOhigh, a ...
Coagulation
Bernard-Soulier syndrome (abnormal glycoprotein Ib-IX-V complex), gray platelet syndrome (deficient alpha granules), and delta ... antiphospholipid syndrome, factor V Leiden, and various other genetic deficiencies or variants).[medical citation needed] The ... myelodysplastic syndrome or other bone marrow disorders), destruction by the immune system (immune thrombocytopenic purpura), ... or consumption (e.g., thrombotic thrombocytopenic purpura, hemolytic-uremic syndrome, paroxysmal nocturnal hemoglobinuria, ...
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 ...
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 ...
Haemophilia B
... fibrinogen disorders and Bernard-Soulier syndrome Treatment is given intermittently, when there is significant bleeding. It ...
BS
... an academic degree Bernard-Soulier syndrome, a rare autosomal recessive coagulopathy, that is caused a deficiency of ... glycoprotein Ib Bartter syndrome, a rare inherited disease which results in hypokalemia Bachelor of Science, an academic degree ...
List of MeSH codes (C15)
... bernard-soulier syndrome MeSH C15.378.100.425.300 - factor v deficiency MeSH C15.378.100.425.310 - factor vii deficiency MeSH ... bernard-soulier syndrome MeSH C15.378.140.735 - platelet storage pool deficiency MeSH C15.378.140.735.400 - hermanski-pudlak ... bernard-soulier syndrome MeSH C15.378.463.250 - disseminated intravascular coagulation MeSH C15.378.463.300 - factor v ... chediak-higashi syndrome MeSH C15.378.553.774.535 - granulomatous disease, chronic MeSH C15.378.553.774.600 - job's syndrome ...
Platelet
... of adhesion Bernard-Soulier syndrome Disorders of activation Disorders of granule amount or release Hermansky-Pudlak syndrome ... Chemotherapy Babesiosis Dengue fever Onyalai Thrombotic thrombocytopenic purpura HELLP syndrome Hemolytic-uremic syndrome Drug- ... Glanzmann's thrombasthenia Wiskott-Aldrich syndrome Disorders of coagulant activity COAT platelet defect Scott syndrome ... Gray platelet syndrome ADP receptor defect Decreased cyclooxygenase activity Platelet storage pool deficiency Disorders of ...
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- ...
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 ...
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 ...
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 ...
List of MeSH codes (C16)
Bernard-Soulier syndrome MeSH C16.320.099.300 - factor V deficiency MeSH C16.320.099.310 - factor VII deficiency MeSH C16.320. ... MeSH C16.131.077.065 - Alagille syndrome MeSH C16.131.077.095 - Angelman syndrome MeSH C16.131.077.112 - Bardet-Biedl syndrome ... branchio-oto-renal syndrome MeSH C16.131.260.190 - cri du chat syndrome MeSH C16.131.260.210 - De Lange syndrome MeSH C16.131. ... branchio-oto-renal syndrome MeSH C16.320.180.190 - cri du chat syndrome MeSH C16.320.180.210 - De Lange syndrome MeSH C16.320. ...
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: An Update
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 ... Bernard-Soulier syndrome: an update. Semin Thromb Hemost. 2013 Sep. 39 (6):656-62. [QxMD MEDLINE Link]. ... Glanzmann thrombasthenia, Bernard-Soulier syndrome, and most mild von Willebrand diseases are associated with a prolonged ... Rare disorders, such as Bernard-Soulier syndrome, can be diagnosed based on the results from the peripheral smear (see image ...
IMSEAR at SEARO: Bernard Soulier syndrome.
Platelet Disorders data from HTC Population Profile - March 2022 | CDC
Dental management of patients with bleeding disorders - a literature review and case report: Bernard Soulier syndrome
Disease #00143 (BSS (Bernard-Soulier syndrome), OMIM:231200) - Global Variome shared LOVD
A novel mutation in the GP1BA gene in Bernard-Soulier syndrome | AVESİS
Qualitative disorders of platelets and megakaryocytes | Semantic Scholar
Bernard-Soulier syndrome, an example of macrothrombocytopenia, combines the production of large platelets with a deficit or non ... including Wiskott-Aldrich syndrome), and of platelet‐derived procoagulant activity (Scott syndrome) show how studies on ... Defects of secretion from platelets include an abnormal α‐granule formation as in the gray platelet syndrome (with marrow ... and of organelle biogenesis in the Hermansky-Pudlak and Chediak-Higashi syndromes where platelet dense body defects are linked ...
Bleeding Disorder | MedlinePlus
Bernard-Soulier syndrome: MedlinePlus Genetics (National Library of Medicine) * Complete plasminogen activator inhibitor 1 ... Thrombocytopenia-absent radius syndrome: MedlinePlus Genetics (National Library of Medicine) * Wiskott-Aldrich syndrome: ... Stormorken syndrome: MedlinePlus Genetics (National Library of Medicine) * ...
Best Treatments for Giant platelet syndrome bernard soulier disease in Majra Dehradun - Book Appointment, Call Now, View Fees...
... numbers of Best Treatments for Giant platelet syndrome bernard soulier disease in Majra Dehradun ... Best Treatments for Giant platelet syndrome bernard soulier disease in Majra Dehradun : Find Best Doctors, Book Appointment, ... Treatments For Giant Platelet Syndrome Bernard Soulier Disease / Majra Healthcoco. BlogAboutCareersContact UsPrivacy Policy ...
Genetic testing for Hermansky-Pudlak syndrome, Von Willebrand disease type 1, Bernard-Soulier syndrome, Glanzmann...
Pseudo-von Willebrand disease, Bernard-Soulier syndrome. AD/AR. 9. 73. GP1BB Giant platelet disorder, isolated, Bernard-Soulier ... Hermansky Pudlak syndrome, Wiskott-Aldrich syndrome, Bernard Soulier syndrome, Glanzmann disease, thrombocytopenia 2, familial ... Sebastian syndrome, May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive ... Neutropenia, severe congenital, Thrombocytopenia, Wiskott-Aldrich syndrome. XL. 57. 439. WIPF1 Wiskott-Aldrich syndrome 2. AR. ...
nephrotic syndrome type 19 - Ontology Browser - Rat Genome Database
Bernard-Soulier syndrome + beta-ketothiolase deficiency BH4-deficient hyperphenylalaninemia A BH4-deficient ... nephrotic syndrome type 18 nephrotic syndrome type 19 A familial nephrotic syndrome that has_material_basis_in compound ... nephrotic syndrome type 19 (DOID:0080394). Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) ... craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 craniolenticulosutural dysplasia ...
SMART: LRR TYP domain annotation
HL-44612/HL/NHLBI NIH HHS/United States[Grant Number] - Search Results - PubMed
JaypeeDigital | eBook Reader
Find Research outputs - Manipal Academy of Higher Education, Manipal, India
Versiti - Patient Information | Versiti
European Haemophilia Consortium (EHC)
Bernard-Soulier syndrome is a platelet function disorder caused by an abnormality in the genes for glycoprotein Ib/IX/V. These ... Grey platelet syndrome is a very rare platelet function disorder caused by a lack of alpha granules and the chemicals normally ... such as Hermansky-Pudlak syndrome and Chediak-Higashi syndrome). ...
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 ... Bernard-Soulier syndrome: an update. Semin Thromb Hemost. 2013 Sep. 39 (6):656-62. [QxMD MEDLINE Link]. ... Glanzmann thrombasthenia, Bernard-Soulier syndrome, and most mild von Willebrand diseases are associated with a prolonged ... Rare disorders, such as Bernard-Soulier syndrome, can be diagnosed based on the results from the peripheral smear (see image ...
Orofacial manifestations of hematological disorders: Anemia and hemostatic disorders Adeyemo TA, Adeyemo WL, Adediran A,...
6] Bernard-Soulier syndrome and grey platelet syndrome [49] are the other well-defined, inherited disorders of platelet ... The Plummer-Vinson syndrome More Details. This is otherwise called the Patterson-Brown-Kelly syndrome or sideropenic dysphagia ... Hereditary hemorrhagic telangiectasia [44] and Ehlers-Danlos syndrome More Details, [45] in which some patients express the ... Saint Clair de Velasquez and Rivera reported, in a study, that the most common soft tissue oral manifestation of sickle cell ...
Factor V Leiden Thrombophilia - Coagulation & Bleeding Disorders - Pathology for Medicine
Department of Anatomy - Research output - Keio University
Paw Print Genetics - Tests for Cocker Spaniel
Bernard-Soulier Syndrome Aliases: Bernard-Soulier Syndrome Type C, BSS. Exercise-Induced Collapse Aliases: EIC ... Episodic Falling Syndrome Aliases: Collapsing Cavaliers syndrome, Exercise-induced paroxysmal hypertonicity, Falling Cavaliers ... Dry Eye Curly Coat Syndrome Aliases: Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis, CKSID ...
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 ... Bernard-Soulier syndrome: an update. Semin Thromb Hemost. 2013 Sep. 39 (6):656-62. [QxMD MEDLINE Link]. ... Glanzmann thrombasthenia, Bernard-Soulier syndrome, and most mild von Willebrand diseases are associated with a prolonged ... Rare disorders, such as Bernard-Soulier syndrome, can be diagnosed based on the results from the peripheral smear (see image ...
解剖学 - 研究成果 - Keio University
HuGE Navigator|Genopedia|PHGKB
Code System Concept
DeCS
Bernard-Soulier Syndrome Entry term(s). Bernard Soulier Syndrome Giant Platelet Syndrome Platelet Syndromes, Giant Syndrome, ... Syndrome de Bernard-Soulier Entry term(s):. Bernard Soulier Syndrome. Deficiency of Platelet Glycoprotein 1b. Giant Platelet ... Platelet Syndromes, Giant. Syndrome, Bernard-Soulier. Syndrome, Giant Platelet. Syndromes, Giant Platelet. Von Willebrand ... Bernard-Soulier Syndrome, Giant Platelet Syndromes, Giant Platelet Deficiency of Platelet Glycoprotein 1b - Related but not ...
WillebrandGlanzmannBleeding disorderDeficiencyAutosomalThrombocytopeniaPlatelet dysfunctionMutationsMurineDiseaseCongenitalDysfunctionDescriptorDefectRareTypeHemolyticClinicalPatientsUpdateThrombocytopeniaFamilialPlateletsHemolytic-uremic sMacrothrombocytopeniaPatient with Bernard-SoulierAdhesionGray plateletGlycoproteinGiantPhenotypeRenalReceptorBleedingMetabolicSevereEvan'sCushingSiblingsEtiologyPeripheral
Willebrand3
- Bernard-Soulier syndrome is a platelet function disorder caused by an abnormality in the genes for glycoprotein Ib/IX/V. These genes code for a group of linked proteins normally found on the surface of platelets, the glycoprotein Ib/IX/V receptor (also called the von Willebrand factor or VWF receptor). (ehc.eu)
- Hemab is also targeting other rare blood diseases with this technology, including Hereditary Hemorrhagic Telangiectasia (HHT), factor VII deficiency, Bernard-Soulier syndrome, von Willebrand disease (types 1 and 2), Antithrombin deficiency, and others. (glhf.org)
- Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. (huabio.com)
Glanzmann2
- The phenotypes that are covered by the panel include VWD, hemophilia A and B, rare bleeding disorders, Hermansky Pudlak syndrome, Wiskott-Aldrich syndrome, Bernard Soulier syndrome, Glanzmann disease, thrombocytopenia 2, familial platelet syndrome with predisposition to acute myelogenous leukemia and gray platelet syndrome. (blueprintgenetics.com)
- Mechanism of action of rFVIIa in patients with Glanzmann thrombasthenia and Bernard-Soulier syndrome is thought to be from thrombin generation on the surface of platelets, resulting in faster platelet activation and aggregation. (medscape.com)
Bleeding disorder1
- Bernard-Soulier syndrome is a bleeding disorder associated with abnormal platelets, which are blood cells involved in blood clotting. (medlineplus.gov)
Deficiency1
- Anemic disorders associated with orofacial signs and symptoms include iron deficiency anemia, Plummer-Vinson syndrome, megaloblastic anemia, sickle cell anemia, thalassaemia and aplastic anemia. (ijdr.in)
Autosomal2
- Qualitative disorders in Bernard-Soulier syndrome, an autosomal recessive disorder in which the glycoprotein (GP) Ib/IX/V complex exhibits abnormal function, are summarized in Table 1. (semanticscholar.org)
- Bernard-Soulier Syndrome is another rare autosomal recessive disorder caused by mutations of the GpIb/IX/V complex. (impact-r.com)
Thrombocytopenia2
- Thrombocytopenia is associated with risk of thrombosis in conditions like heparin-induced thrombocytopenia (HIT), antiphospholipid antibody syndrome (APS), disseminated intravascular coagulation (DIC), thrombotic microangiopathy (TMA), paroxysmal nocturnal hemoglobinuria (PNH). (statpearls.com)
- Differential diagnosis associated with thrombocytopenia and large platelets include Alport syndrome, Bernard-Soulier syndrome, Montreal platelet syndrome, immune thrombocytopenia, and gray-platelet syndrome. (faoj.org)
Platelet dysfunction2
- Generation and rescue of a murine model of platelet dysfunction: the Bernard-Soulier syndrome. (semanticscholar.org)
- When compounded by platelet dysfunction, the management of a compartment syndrome becomes exponentially more difficult for the surgeon. (faoj.org)
Mutations1
- All of these mutations impair clot formation, which leads to the excessive bleeding characteristic of Bernard-Soulier syndrome. (medlineplus.gov)
Murine1
- Non-myeloablative conditioning with busulfan before hematopoietic stem cell transplantation leads to phenotypic correction of murine Bernard-Soulier syndrome. (nih.gov)
Disease1
- The gray platelet syndrome: clinical spectrum of the disease. (semanticscholar.org)
Congenital1
- This paper reports the case of a patient with severe congenital coagulopathy related to Bernard Soulier syndrome. (bvsalud.org)
Dysfunction1
- In the 1990s, noninfectious serious hazards of transfusion (NISHOT), such as transfusion-related immune modulation (TRIM), transfusion-related acute lung injury (TRALI), transfusion-associated circulatory overload (TACO), and multiple-organ dysfunction syndrome (MODS) have become significant concerns. (aneskey.com)
Descriptor1
- Waterhouse-Friderichsen Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (uams.edu)
Defect1
- In the rare Bernard-Soulier syndrome with Asn45Ser mutation of glycoprotein (GP) IX, the diagnostic defect in the expression of GPIb-IX-V complex was characterized in seven Finnish patients, also an internationally exceptionally large patient series. (helsinki.fi)
Rare1
- Grey platelet syndrome is a very rare platelet function disorder caused by a lack of alpha granules and the chemicals normally stored inside them. (ehc.eu)
Type1
- This type of bleeding problem can be a feature of other inherited conditions (such as Hermansky-Pudlak syndrome and Chediak-Higashi syndrome). (ehc.eu)
Hemolytic1
- A hemolytic uremic syndrome (HUS) caused by Shiga toxin-producing organism (E. coli and Shigella), seen in children. (statpearls.com)
Clinical2
- Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study. (medlineplus.gov)
- The objective of this paper is to make a literature review on the management of dental patients with bleeding disorders, as well as to report through a clinical case report, the protocol of care for a patient with Bernard Soulier syndrome. (bvsalud.org)
Patients1
- be and be the relationship to become regardless the syndrome age has swelling even per the patients. (lakesinclair.org)
Update1
- Bernard-Soulier syndrome: an update. (medlineplus.gov)
Thrombocytopenia8
- 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)
- Bernard-Soulier syndrome (BSS) was first described in 1948 as a congenital bleeding disorder characterized by thrombocytopenia and large platelets. (medscape.com)
- His top areas of expertise are Thrombocytopenia, Bernard-Soulier Syndrome, MYH9 Related Thrombocytopenia, and Alport Syndrome. (medifind.com)
- Her top areas of expertise are Bernard-Soulier Syndrome, Thrombocytopenia, MYH9 Related Thrombocytopenia, and Blood Clots. (medifind.com)
- His top areas of expertise are Bernard-Soulier Syndrome, Thrombocytopenia, MYH9 Related Thrombocytopenia, and Gray Platelet Syndrome. (medifind.com)
- 8. Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome. (nih.gov)
- Our blood coagulation panel contains genes for the molecular diagnosis of thrombophilia, thrombocytopenia, hereditary hemorrhagic telangiectasia, ARC syndrome, Hermasky-Pudlak syndrome, coagulation factor disorders, and platelet related disorders. (centogene.com)
- One type of α-SPD is gray platelet syndrome (GPS), caused by mutations in the neurobeachin-like 2 (NBEAL2) gene that results in a bleeding diathesis, thrombocytopenia, splenomegaly, and progressive myelofibrosis. (medscape.com)
Familial1
- Her top areas of expertise are Bernard-Soulier Syndrome, Malignant Teratoma of the Mediastinum, Blood Clots, and RUNX1 Familial Platelet Disorder. (medifind.com)
Platelets6
- Bernard-Soulier syndrome is a bleeding disorder associated with abnormal platelets, which are blood cells involved in blood clotting. (medlineplus.gov)
- Peripheral smear of patient with Bernard-Soulier syndrome (BSS) showing giant platelets. (medscape.com)
- Bernard-Soulier syndrome (BSS) is a rare inherited platelet bleeding disorder characterized by low platelet count and abnormally large platelets (macrothrombocytopenia). (nih.gov)
- 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)
- Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear. (orpha.net)
- This was further confirmed by testing on human platelets isolated from a patient with Bernard Soulier Syndrome which failed to respond to S100 A8/A9 at any dosing level. (drugtargetreview.com)
Hemolytic-uremic s1
- Other cases can be non-immune mediated, like thrombotic thrombocytopenic purpura , or TTP, and hemolytic-uremic syndrome , or HUS. (osmosis.org)
Macrothrombocytopenia1
- Other disorders in the category of macrothrombocytopenia are the May-Hegglin anomaly and gray platelet syndrome. (medscape.com)
Patient with Bernard-Soulier2
- Mahfouz RA, Bolz HJ, Otrock ZK, Bergmann C, Muwakkit S. Novel mutation in the glycoprotein Ibß in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity. (medscape.com)
- The objective of this paper is to make a literature review on the management of dental patients with bleeding disorders, as well as to report through a clinical case report, the protocol of care for a patient with Bernard Soulier syndrome. (bvsalud.org)
Adhesion1
- More frequent in alcohol abuse in order to decrease alloimmunization are function disorder adhesion bernard-soulier syndrome gp ib deficiency only, finding an immediate need for new carious lesions. (aaan.org)
Gray platelet1
- This is called Gray Platelet Syndrome, and usually shows up as a long bleeding time, and a low platelet count. (infobloom.com)
Glycoprotein1
- Bernard-Soulier disease is a rare sex food bleeding disorder caused by a defect in the platelet glycoprotein complex 1b-IX-V. (dangtin.xyz)
Giant1
- Bernard-Soulier syndrome, BSS, giant platelet syndrome) - rzadka, genetycznie uwarunkowana choroba spowodowana mutacją w genie kodującym białko GP1Bα związane z kompleksem receptora vWF-GPIb. (naukowy.pl)
Phenotype2
- Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study. (medlineplus.gov)
- Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations. (medscape.com)
Renal1
- It may also be due to tubular damage from excretion of light chains, also called Bence Jones proteins, which can manifest as the Fanconi syndrome (type II renal tubular acidosis ). (bionity.com)
Receptor1
- if you are pregnant, planning to become pregnant, or are breast-feeding if you are taking any prescription or nonprescription medicine, herbal preparation, or dietary supplement if you have allergies to medicines, foods, or other substances if you have had an allergic reaction to another serotonin 5-HT 3 receptor blocker eg, dolasetron, granisetron if you have liver problems or a certain type of irregular heartbeat QT prolongation, long QT syndrome. (chwawa.com)
Bleeding1
- Women with Bernard-Soulier syndrome often have heavy or prolonged menstrual bleeding (menorrhagia). (medlineplus.gov)
Metabolic1
- It's associated with several related conditions, collectively known as metabolic syndrome. (blijven-vorbei.com)
Severe1
- In more severe cases, infection can cause pneumonia, severe acute respiratory syndrome, kidney failure and even death. (esicm.org)
Evan's1
- In fact, some patients develop both conditions together and that's called Evan's syndrome. (osmosis.org)
Cushing1
- Some hormone problems may cause overweight and obesity, such as underactive thyroid, Cushing syndrome and polycystic ovary syndrome (PCOS). (blijven-vorbei.com)
Siblings1
- Females that have siblings that suffer from Bernard Soulier syndrome appear to have a significantly higher chance of developing the condition. (md-health.com)
Etiology1
- Nerve conduction velocity (NCV) testing suggested likely etiology was from a resolved compartment syndrome. (faoj.org)
Peripheral1
- Finally, there may be radicular pain , loss of bowel or bladder control (due to involvement of spinal cord leading to cord compression) or carpal tunnel syndrome and other neuropathies (due to infiltration of peripheral nerves by amyloid ). (bionity.com)