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bernard-soulier syndrome - rare congenital bleeding disorder
Definition for Bernard-Soulier Syndrome
Bernard-Soulier syndrome (BSS, named after Jean Bernard and Jean Pierre Soulier) is a rare congenital bleeding disorder characterized by thrombocytopenia and large platelets and was first described in 1948.
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Bernard-Soulier syndrome (BSS, named after Jean Bernard and Jean Pierre Soulier) is a rare congenital bleeding disorder characterized by thrombocytopenia and large platelets and was first described in 1948. It is one of a group of hereditary platelet disorders characterized also by a tendency toward bleeding. The disorder was recognized to be familial and inherited in an autosomal recessive manner so males and females are affected with equal frequency. In the 1970s, the molecular defect was shown to involve the absence of a platelet membrane glycoprotein.
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1 - 7 of
188
diagnoses
drugs and toxins
anemia
Factor V Leiden thrombophilia
Von Willebrand's disease
variegate porphyria
idiopathic thrombocytopenic purpura
hereditary spherocytosis
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do i have 'Bernard-Soulier Syndrome'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'bernard-soulier syndrome'
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diagnostic tests
Bleeding time
Bernard-Soulier Syndrome and Bleeding time
Complete Blood Count
Bernard-Soulier Syndrome and Complete Blood Count
Flow Cytometry
Bernard-Soulier Syndrome and Flow Cytometry
Platelet aggregation
Bernard-Soulier Syndrome and Platelet aggregation
platelet morphology
Bernard-Soulier Syndrome and platelet morphology
Capillary fragility test
Bernard-Soulier Syndrome and Capillary fragility test
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therapeutic procedures for 'Bernard-Soulier Syndrome'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for Bernard-Soulier Syndrome:
therapeutic procedure search results for 'bernard-soulier syndrome'
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medications search results for 'bernard-soulier syndrome'
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Tranexamic
Bernard-Soulier Syndrome and Tranexamic
Aminocaproic acid
Bernard-Soulier Syndrome and Aminocaproic acid
Antihemophilic factor, recombinant
Bernard-Soulier Syndrome and Antihemophilic factor, recombinant
Desmopressin acetate
Bernard-Soulier Syndrome and Desmopressin acetate
web search results for bernard-soulier syndrome
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1 - 50
- Bernard-Soulier Syndrome
Bernard-Soulier syndrome - Wikipedia, the free encyclopedia
Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)". Orphanet J Rare Dis. ... Variant Bernard-Soulier syndrome type bolzano. ...
http://en.wikipedia.org/wiki/Bernard-Soulier_syndrome
en.wikipedia.org
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Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy).
Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy). Lanza F. ... Bernard-Soulier syndrome (BSS), also known as Hemorrhagiparous thrombocytic ...
http://www.ncbi.nlm.nih.gov/pubmed/17109744
www.ncbi.nlm.nih.gov
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Bernard-Soulier syndrome.
1998 Jun 15;91(12):4397-418. Bernard-Soulier syndrome. López JA, Andrews RK, Afshar-Kharghan V, ... Bernard-Soulier Syndrome*/physiopathology. Blood ...
http://www.ncbi.nlm.nih.gov/pubmed/9616133
www.ncbi.nlm.nih.gov
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Genetic abnormalities of Bernard-Soulier syndrome.
2002 Nov;76(4):319-27. Genetic abnormalities of Bernard-Soulier syndrome. ... Bernard-Soulier Syndrome (BSS) is an autosomal recessive bleeding disorder due ...
http://www.ncbi.nlm.nih.gov/pubmed/12463594
www.ncbi.nlm.nih.gov
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Variant Bernard-Soulier syndrome type bolzano. A congenital bleeding ...
... distinct variant form of Bernard-Soulier syndrome and provide evidence, based on ... for a correct identification of variant Bernard-Soulier syndrome. ...
http://www.ncbi.nlm.nih.gov/pubmed/1694864
www.ncbi.nlm.nih.gov
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A case of Bernard-Soulier Syndrome due to a homozygous four bases ...
A case of Bernard-Soulier Syndrome due to a homozygous four bases deletion (TGAG) ... Bernard-Soulier Syndrome (BSS), leading to abnormal or absent synthesis and/or ...
http://www.ncbi.nlm.nih.gov/pubmed/18791947?ordinalpos=2&ito...
www.ncbi.nlm.nih.gov
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Bernard-Soulier syndrome: whole blood diagnostic assays of platelets.
Diagnosing Bernard-Soulier syndrome (BSS), a congenital hemorrhagic disorder of ... Bernard-Soulier Syndrome/blood. Bernard-Soulier Syndrome/diagnosis* Blood ...
http://www.ncbi.nlm.nih.gov/pubmed/2725065
www.ncbi.nlm.nih.gov
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A new variant of Bernard-Soulier syndrome characterized by ...
... a new variant of Bernard-Soulier syndrome characterized by almost normal amounts ... Bernard-Soulier Syndrome/genetics* Bleeding Time. DNA/analysis ...
http://www.ncbi.nlm.nih.gov/pubmed/9886312
www.ncbi.nlm.nih.gov
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Successful pregnancy outcome in Bernard-Soulier syndrome.
Bernard-Soulier syndrome is a rare bleeding disorder, and there is scant ... of managing a pregnant woman with Bernard-Soulier syndrome who had a successful ...
http://www.ncbi.nlm.nih.gov/pubmed/15669993?dopt=Abstract
www.ncbi.nlm.nih.gov
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BERNARD-SOULIER SYNDROME - Pedbase.org
... Database - Detailed information of BERNARD-SOULIER SYNDROME ... 1994 -2007 Pedbase.org. Powered by Database of Pediatrics- BERNARD-SOULIER SYNDROME ...
http://www.pedbase.org/b/bernard-soulier-syndrome
www.pedbase.org
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Bernard-Soulier Disease Glossary of Terms with Definitions on ...
Bernard-Soulier Disease glossary includes a list of Bernard-Soulier Disease related medical ... See the entire definition of Bernard-Soulier syndrome ...
http://www.medicinenet.com/bernard-soulier_disease/glossary.htm
www.medicinenet.com
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MedlinePlus Medical Encyclopedia: Congenital platelet function defects
... Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function ... Bernard-Soulier syndrome occurs when platelets lack a substance that sticks to ...
http://www.nlm.nih.gov/medlineplus/ency/article/000582.htm
www.nlm.nih.gov
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Congenital platelet function defects
... Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function ... Bernard-Soulier syndrome occurs when platelets lack a substance that sticks to ...
http://adam.about.com/encyclopedia/infectiousdiseases/Congen...
adam.about.com
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Bernard-Soulier syndrome due to GPIX W127X mutation in Japan is ...
Bernard-Soulier syndrome due to GPIX W127X mutation in Japan is frequently ... Bernard-Soulier Syndrome/diagnosis* Bernard-Soulier Syndrome/genetics. False ...
http://www.ncbi.nlm.nih.gov/pubmed/16757441?dopt=Abstract
www.ncbi.nlm.nih.gov
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Talk:Bernard-Soulier syndrome - Wikipedia, the free encyclopedia
Talk:Bernard-Soulier syndrome. From Wikipedia, the free encyclopedia. Jump to: navigation, search ... en.wikipedia.org/wiki/Talk:Bernard-Soulier_syndrome" ...
http://en.wikipedia.org/wiki/Talk:Bernard-Soulier_syndrome
en.wikipedia.org
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Variant Bernard-Soulier syndrome associated with a homozygous mutation ...
Variant Bernard-Soulier syndrome associated with a homozygous mutation in the ... We describe a new variant of Bernard-Soulier syndrome. ...
http://www.ncbi.nlm.nih.gov/pubmed/8049428
www.ncbi.nlm.nih.gov
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Hereditary Intrinsic Platelet Disorders: Thrombocytopenia and Platelet ...
Bernard-Soulier syndrome. Normal. Normal. Impaired. ADP = adenosine diphosphate. ... Bernard-Soulier syndrome is another rare autosomal recessive disorder. ...
http://www.merck.com/mmpe/print/sec11/ch133/ch133c.html
www.merck.com
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Bernard Soulier Syndrome - Yahoo! Health
Important It is possible that the main title of the report Bernard Soulier Syndrome is not the name you expected. Please check the synonyms listing to find the ...
http://health.yahoo.com/other-other/bernard-soulier-syndrome...
health.yahoo.com
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WebMD Health A-Z - Find reliable health and medical information on ...
Find a comprehensive index of trusted health and medical information. It is your ultimate guide to reliable ... Bernard Soulier Syndrome. Bernard-Horner ...
http://www.webmd.com/a-to-z-guides/health-topics/ba-be.htm
www.webmd.com
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Norton - ADAM
Search engine ... Bartter syndrome. Beckwith-Wiedemann syndrome. Bernard-Soulier syndrome. Birth ... De Toni-Fanconi syndrome. Deficiency - antithrombin III ...
http://nortonhealthcare.adam.com/content.aspx?productId=112&...
nortonhealthcare.adam.com
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Disease Reference
Bernard-Soulier syndrome. Bezoar. Bicipital tendinitis. Biduoterian fever ... Blind loop syndrome. Bloch-Sulzberger's disease. Blocked nasolacrimal duct ...
http://adam.about.com/HIE/diseidxb.htm
adam.about.com
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Hereditary Intrinsic Platelet Disorders: Thrombocytopenia and Platelet ...
Bernard-Soulier syndrome. Normal. Normal. Impaired. ADP = adenosine Some Trade Names ... Bernard-Soulier syndrome is another rare autosomal recessive disorder. ...
http://www.merck.com/mmpe/sec11/ch133/ch133c.html
www.merck.com
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2009 MeSH Tree Structures. C15 - Hemic and Lymphatic Diseases
Bernard-Soulier Syndrome [C15.378.100.100.080] Factor V Deficiency [C15.378.100.100.300] ... Bernard-Soulier Syndrome [C15.378.463.080] ...
http://www.nlm.nih.gov/mesh/2009/mesh_trees/C15.html
www.nlm.nih.gov
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Orphanet: Bernard Soulier syndrome
Bernard-Soulier syndrome. Orpha number. ORPHA274. Prevalence of rare diseases ... Bernard-Soulier Syndrome (BSS) also known as hemorrhagiparous thrombocytic ...
http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=E...
www.orpha.net
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Encyclopedia B-Bz on Yahoo! Health
Health encyclopedia of diseases and conditions covering symptoms, definitions, alternative names, causes, ... Bernard Soulier Syndrome. Berylliosis ...
http://health.yahoo.com/ency/b/
health.yahoo.com
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Medical Diseases & Conditions A-Z List 'G' on MedicineNet
Index of comprehensive articles on medical diseases and ... Giant Platelet Syndrome (Bernard-Soulier Disease) Giardia Lamblia. Giardiasis (Giardia Lamblia) ...
http://www.medicinenet.com/diseases_and_conditions/alpha_g.htm
www.medicinenet.com
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Site Map od Pedbase.org - The Pediatric Database
Pedbase Site Map. Pediatric. Site Map. Resources. Contact. PEDBASE.org - The Pediatric Database. A. B. C. D. E. F. G. H. I. J. K. L. M. N. O. P. R. S. T. U. V. W. X ...
http://pedbase.org/sitemap.html
pedbase.org
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Introduction: Thrombocytopenia and Platelet Dysfunction: Merck Manual ...
Thrombotic thrombocytopenic purpura?hemolytic-uremic syndrome. Preeclampsia with DIC ... Bernard-Soulier syndrome and other congenital thrombocytopenias ...
http://www.merck.com/mmpe/print/sec11/ch133/ch133a.html
www.merck.com
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Minkowski-Chauffard syndrome - Wikipedia, the free encyclopedia
Micro-: Iron deficiency anemia (Plummer-Vinson syndrome) ... adhesion (Bernard-Soulier syndrome) · aggregation (Glanzmann's thrombasthenia) ...
http://en.wikipedia.org/wiki/Minkowski-Chauffard_syndrome
en.wikipedia.org
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MedicineNet Nosebleed Specialty
Bernard-Soulier Disease (Giant Platelet Syndrome) Nasopharyngeal Cancer. Dengue Fever ... Doctor: Getting the Most from Your Doctor's Appointment ...
http://www.medicinenet.com/rss/specialty/Nosebleed.xml
www.medicinenet.com
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PMID 18081445
1834-6 Bernard-Soulier syndrome is an inherited platelet disorder, which is ... Bernard-Soulier syndrome often presents early with bleeding symptoms, such as ...
http://www.ncbi.nlm.nih.gov/pubmed/18081445
www.ncbi.nlm.nih.gov
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MedicineNet Circumcision The Surgical Procedure Specialty
Bernard-Soulier Disease (Giant Platelet Syndrome) Urinary Tract Infection (UTI In Adults) Health Tip: Prevent Infection After Circumcision ...
http://www.medicinenet.com/rss/specialty/circumcision_the_surgical_procedure.xml
www.medicinenet.com
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[Bernard-Soulier thrombocytopenia: clinical significance of a rare disorder]
The diagnosis of Bernard-Soulier syndrome was suspected in some subjects of ... Bernard-Soulier Syndrome/etiology. Bleeding Time. Blood Platelets/chemistry ...
http://www.ncbi.nlm.nih.gov/pubmed/9005523
www.ncbi.nlm.nih.gov
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Health Information
A member of SSM Health Care. Body, Mind, Spirit... We care for the whole person. ... Bernard-Soulier syndrome. Beta galactosidase deficiency. Beta thalassemia. Bezoar ...
http://ssmhealth.adam.com/content.aspx?pid=1&gid=200000&sub=Disease&alpha=B
ssmhealth.adam.com
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Double heterozygosity for mutations in the platelet glycoprotein IX ...
... platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome. ... Bernard-Soulier syndrome (BSS) giant platelets have defective and/or deficient ...
http://www.ncbi.nlm.nih.gov/pubmed/8481514
www.ncbi.nlm.nih.gov
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PMID 9432024
... motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome. 794-800 Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder ...
http://www.ncbi.nlm.nih.gov/pubmed/9432024
www.ncbi.nlm.nih.gov
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Plummer-Vinson syndrome - Wikipedia, the free encyclopedia
Thrombocytopenic purpura: ITP (Evans syndrome) · TM (TTP) Heparin-induced ... adhesion (Bernard-Soulier syndrome) · aggregation (Glanzmann's thrombasthenia) ...
http://en.wikipedia.org/wiki/Plummer-Vinson_syndrome
en.wikipedia.org
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Introduction: Thrombocytopenia and Platelet Dysfunction: Merck Manual ...
... Purpura (TTP) and Hemolytic-Uremic Syndrome (HUS)· Von Willebrand's Disease ... Bernard-Soulier syndrome and other congenital thrombocytopenias ...
http://www.merck.com/mmpe/sec11/ch133/ch133a.html
www.merck.com
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MedicineNet Bruises Specialty
Shaken Baby Syndrome. Bernard-Soulier Disease (Giant Platelet Syndrome) Foot Pain. Cuts, Scrapes and Puncture Wounds. How to Choose a Doctor ...
http://www.medicinenet.com/rss/specialty/Bruises.xml
www.medicinenet.com
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PMID 10583255
... mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome. 539-45 Bernard-Soulier syndrome (BSS) is an autosomal recessive bleeding ...
http://www.ncbi.nlm.nih.gov/pubmed/10583255
www.ncbi.nlm.nih.gov
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PlateletAggregationTable
Bernard Soulier. Syndrome. N. N. N. N. N. or Abs. Macrothrombocytopenia. Deficiency of GPIb/IX/V (one ... purpura; HUS-hemolytic uremic syndrome; ATP ...
http://referencelab.clevelandclinic.org/images/PlateletAggregationTable.PDF
referencelab.clevelandclinic.org
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Another family with IGPS.
Bernard-Soulier Syndrome/blood. Bernard-Soulier Syndrome/classification. Bernard-Soulier Syndrome/genetics* Blood Platelets/physiology. Blood Platelets/ultrastructure ...
http://www.ncbi.nlm.nih.gov/pubmed/11068561?ordinalpos=1&ito...
www.ncbi.nlm.nih.gov
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Congenital platelet function defects
Congenital platelet function defects are disorders of platelet function, the blood cells essential for the ... Bernard-Soulier syndrome; Platelet ...
http://adam.about.com/encyclopedia/000582prv.htm
adam.about.com
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Novel point mutation in a leucine-rich repeat of the GPIbalpha chain of ...
... as having heterozygous Bernard-Soulier syndrome carrying the Bolzano-type defect. ... of heterozygous Bernard-Soulier Syndrome with autosomal dominant ...
http://www.ncbi.nlm.nih.gov/pubmed/18815197?ordinalpos=2&ito...
www.ncbi.nlm.nih.gov
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231200
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231200
www.ncbi.nlm.nih.gov
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GP1BB - NextBio
... with Bernard-Soulier syndrome, velocardiofacial syndrome and giant ... Bernard-Soulier syndrome. Benzenetriol. Myeloid stem cell. Gigantism and acromegaly ...
http://www.nextbio.com/b/home/home.nb?q=GP1BB
www.nextbio.com
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MIM Morbid map
Bernard-Soulier syndrome, type A, 231200 (3) GP1BA. 606672. 17pter-p12 ... Bernard-Soulier syndrome, type C, 231200 (3) GP9. 173515. 3q21. Best macular ...
http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?start=382
www.ncbi.nlm.nih.gov
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Hemolytic-uremic syndrome - Wikipedia, the free encyclopedia
Recurrent attacks of hemolytic uremic syndrome" ... adhesion (Bernard-Soulier syndrome) · aggregation (Glanzmann's thrombasthenia) ...
http://en.wikipedia.org/wiki/Hemolytic-uremic_syndrome
en.wikipedia.org
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PMID 11167791
... in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome. ... Glycoprotein GPIb-IX Complex IM Base Sequence Bernard-Soulier Syndrome genetics ...
http://www.ncbi.nlm.nih.gov/pubmed/11167791
www.ncbi.nlm.nih.gov
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PMID 8608228
... with Bernard-Soulier syndrome, patients with Gray platelet syndrome, and human ... receptor AIM IM Bernard-Soulier Syndrome pathology Blood Platelets chemistry ...
http://www.ncbi.nlm.nih.gov/pubmed/8608228
www.ncbi.nlm.nih.gov
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