A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption.
Time period from 1801 through 1900 of the common era.
The biological science concerned with the life-supporting properties, functions, and processes of living organisms or their parts.
Time period from 1901 through 2000 of the common era.
A characteristic symptom complex.

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, 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. A portion of our blood is made up of platelets, which are cells that help blood to clot and therefor stops bleeding. While people affected by Benard-Soulier syndrome have large platelets, they do not have enough. This means that something as small as a paper cut will not clot and stop bleeding for hours. Other symptoms of people affected with Bernard-Soulier syndrome are bleeding gums (the area around your teeth), easy bruising, and heavy menstrual periods. Type A Bernard-Soulier syndrome is different from others because of the specific gene that is affected. Talk with your doctor to find the best treatment if you or a loved one has been diagnosed with Bernard-Soulier syndrome ...
Bernard-Soulier Syndrome is a congenital bleeding disorder characterised by thrombocytopenia and large platelets. Bernard-Soulier Syndrome information
Bernard-Soulier syndrome (BSS) was first described in 1948 as a congenital bleeding disorder characterized by thrombocytopenia and large platelets. The disorder was recognized to be familial and inherited in an autosomal recessive manner.
Sometimes, a platelet agonist is needed to assay platelet function in cases where there is defective adhesion and aggregation. One of these agonists is Ristocetin. Ristocetin is an antibiotic previously used to treat staphylococcal infections. Use was discontinued because of its lethal side-effects, thrombocytopenia and platelet agglutination. Because of these same side-effects, ristocetin is now used to diagnose certain hematologic conditions such as von Willebrand disease and Bernard-Soulier syndrome.. Ristocetin causes von Willebrand factor to bind the platelet receptor GpIb so that when ristocetin is added to whole blood, it agglutinates. The mechanism for such activity is yet unexplained but there are several hypotheses including one in which the binding of ristocetin to the platelet changes its surface charge. Ristocetin will show hypoagglutination in von Willebrand disease because of a deficiency in von Willebrand factor and in Bernard-Soulier syndrome because of a deficiency in GpIb ...
The British Society for Haematology is registered in England and Wales as a Company Limited by Guarantee, No 2645706 and as a Charity, No 1005735 Registered Office and correspondence address: 100 White Lion Street London N1 9PF. Phone: 020 7713 0990 ...
Build: Wed Jun 21 18:33:50 EDT 2017 (commit: 4a3b2dc). National Center for Advancing Translational Sciences (NCATS), 6701 Democracy Boulevard, Bethesda MD 20892-4874 • 301-435-0888. ...
Build: Wed Jun 21 18:33:50 EDT 2017 (commit: 4a3b2dc). National Center for Advancing Translational Sciences (NCATS), 6701 Democracy Boulevard, Bethesda MD 20892-4874 • 301-435-0888. ...
Platelet GPIb-IX-V is a major player in hemostasis, serving as the receptor for von Willebrand factor (VWF) and mediating the platelet-subendothelium interactions. Deficiencies of this multiprotein complex or the plasma VWF result in a bleeding diathesis. The GPIb-IX-V complex, expressed on megakaryocytes and platelets, contains 4 distinct transmembrane subunits, GPIbα, GPIbβ, GPIX, and GPV (see figure).2 Each subunit is a distinct gene product.2. 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 GP9.3 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.3,4 To date, 45, 39, and 28 variants in GP1BA, GP1BB, and GP9, ...
To delineate the critical top features of platelets necessary for balance and formation of thrombi, thromboelastography and platelet aggregation measurements were employed in whole blood of normal individuals and of those with Bernard-Soulier Syndrome (BSS) and Glanzmanns Thrombasthenia (GT). generation of stable thrombi, a potentially significant feature in individual medical results. Introduction An initial step in thrombus formation in the hurt vascular endothelium is the adhesion of platelets to shown subendothelial elements, e.g., von Willebrand Aspect (vWF), under high prices of shear, via the connections from the platelet glycoprotein (GP) 1b/V/IX receptor complicated with subendothelial vWF [1]. This tethering of platelets after that promotes their firmer binding to subendothelial collagen (COL) fibres via platelet receptors, e.g., GPVI [2], [3] and integrin II1 [4]. In this procedure, platelets are turned on, resulting in platelet shape adjustments, aggregation, discharge of aggregation ...
gp96 is an endoplasmic reticulum chaperone for multiple Toll-like receptors and integrins. Our lab has generated a conditional gp96 knockout model allowing gp96 to be efficiently deleted from all tissues. Herein we demonstrate that gp96 is a master chaperone for 14 of 17 hematopoietic specific integrins and the critical role for gp96 in normal B cell and T cell development, but not for myeloid cell development. Additionally, we show that gp96 chaperones the GPIb-IX complex in platelets and is critical for normal platelet development and function, and results in a condition that closely resembles human Bernard-Soulier syndrome. Lastly, we report that global deletion of gp96 in mice results in spontaneous inflammatory bowel-like disease and a surprising role for gp96 in Wnt signaling, which is known to regulate intestinal homeostasis. Thus, my thesis work was aimed at understanding the roles and mechanisms of gp96 in (1) hematopoiesis, (2) platelet development and function, and (3) intestinal
ALBLD : Detection of the more common potential causes of abnormal bleeding (eg, factor deficiencies/hemophilia, von Willebrand disease, factor-specific inhibitors) and a simple screen to evaluate for an inhibitor or severe deficiency of factor XIII (rare)   This test is not useful for assessing platelet function (eg, congenital or acquired disorders such as Glanzmann thrombasthenia, Bernard-Soulier syndrome, storage pool disease, myeloproliferative disease, associated platelet dysfunction), which requires fresh platelets
Complete Blood Count Abnormal & Congenital Bleeding Diathesis Symptom Checker: Possible causes include Bernard-Soulier Syndrome & Thrombocytopenia & Leukoerythroblastic Anemia. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
COD A77 CON JEAN-FRANCOIS SOULIER [[email protected]] OBS J.-F. Soulier MEA J.-F. Soulier TEL 0.20-m f/4 Newtonian reflector + CCD ACK MPCReport file updated 2017.07.31 AC2 [email protected] NET UCAC-4 0213P KC2017 07 31.86221 18 51 55.28 -28 36 53.0 15.6 N A77 0213P KC2017 07 31.90755 18 51 53.89 -28 36 30.8 15.6 N A77 0213P KC2017 07 31.94339 18 51 52.69 -28 36 11.3 15.8 N A77 ...
Cest d茅j脿 dans Le Corsaire, pi猫ce repr茅sent茅e en 1938, que nous trouvons plusieurs allusions 脿 Lucr猫ce Borgia. Le monde est fou, mais il la toujours 茅t茅 et parfois dacteur nous passons spectateur impuissant! Alors, nous pouvons toujours alerter le monde, faire des p茅titions et m锚me si nous parvenons 脿 茅pargner quelques vies, ce sera toujours 莽a de gagner si nous r茅ussissons 脿 ce que ces pauvres b锚tes meurent dignement et surtout sans souffrance, ce sera toujours 莽a de gagner car je doute que nous parvenions 脿 stopper ce carnage, cette barbarie!!! faut pratiquer les m茅thodes bolcheviques En face de cette attitude, voici notre tactique cest celle des bolcheviks en 1917, cest celle que recommandent au jourdhui les r茅volutionnaires japonais, cest celle qui consiste 脿 gagner 脿 nous les soldats. Donc il y avait toujours un soulier que jappelais le soulier de Cendrillon, cest脿dire Regardezle, un jour il va dispara卯tre.. ,a ...
And if you understand anybody who is a vegan, you recognize that theyre typically very slim. Many types of dance burn a surprisingly large variety of energy. If you add the below discussed weight-loss ideas in the day-to-day way of life, an individual is st. bernard best diet going to simply feel higher, however moreover design higher. The thing is, carbohydrates have many vitality. Use as little salt as potential (might be higher not to use it in the water diet before and after respect for the first two weeks). Post krediet taught the highest st. bernard best diet causes lene no diet weight loss collapse to their cravings and possibly the best strategies to change the best way through which during which you take into account meals. Stomach ache st. bernard best diet consuming together with bloating, lower than three bowel st. bernard best diet in every st. bernard best diet and exhausting stools are symptoms of constipation. These skills must do with ones revenue standing, or their dependency ...
Breeding St. Bernards can be fun, rewarding, and a learning experience for your family, but it can also be a lot of work. It takes dedication, commitment, and time in order to successfully breed St. Bernards. Breeding a single litter of puppies can take up to a year and the health of your dog and the puppies should always be first priority. Before deciding to breed St. Bernards, you should make sure you have the time, money, and space. There are organizations such as the AKC that can help you if you decide to breed your St. Bernard.. ...
Mr. Bernard, a notary, left his house at the crack of dawn and was about to start on his usual stroll. He was dressed entirely in black cashmir, as is fitting for a notary. But, as it happened to be the hieght of the Summer, Mr. Bernard figured that he could liven up his attire with an umbrella made of white alpaca. Everything was still sleeping in the town. A few bars had hardly opened their doors, and a few road-laborers with pickaxes on their shoulders had just started off to work with sleepy footsteps. Always up early, eh, Mr. Bernard? asked one of them, greeting him with respect. Mr. Bernard was about to reply --for he was not an arrogant man --when he saw approaching from the end of the wide, level Boulevard, a dog so jaundiced, so skinny, so sad, and so filthy, and who seemed so tired that Mr. Bernard instinctively stepped aside and placed himself against a plane tree. That dog was Turk --poor, lamentable Turk. Uh-oh! said Mr. Bernard, Theres a dog I dont know! Uh-oh! In small ...
Buy French le grand miel, bernard michaud - Bernard michaud brings all the wonderful richness of frances great traditional local mono-floral honeys into...
Bernard Nathanson Former abortionist and NARAL co-founder Dr. Bernard Nathanson, who turned his back on the abortion industry to recognize the value of the unborn, has died at the age of 84 of cancer in New York. Nathanson, who began his career as an ob
AUDRE AND BERNARD RAPOPORT ACADEMY - located at 2000 J J Flewellen Rd, Waco,TX 76704. find AUDRE AND BERNARD RAPOPORT ACADEMYrating, student, staff and STAAR statistics and scores
Everton forward Bernard has revealed he has worked with a psychologist for the past year after suffering a scary anxiety attack. Bernard got help after being concerned by a number of symptoms, including blurred vision. After the treatment, the Brazilian now feels confident enough to go public about his mental health issues.
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DentalPlans detailed profile of Bernard Eisenberg , DDS - Dentist in 21228. View plans, sample savings & pricing, patient reviews & practice information.
Dr Bernard Nawarski is a specialist consultant at Spire Clare Park Hospital, Farnham. Get in touch now for expert advice and treatments provided at Spire Healthcare.
St. Bernards has designed its family and visitor policy to help make this possible, while providing an atmosphere of healing for patients.
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Bernards Orange Bitters and a trip to Edinburgh, Scotland PART OF THE ORANGE BITTERS SERIES 14 February 2014 R•050919) Here we have yet another mysterious and unlisted orange bitters trade card from the Joe Gourd collection (see below). At first I … Continue reading →. ...
By all accounts Dr. Bernard Rimland is a hero. This was a man who courageously stood up against the prevailing views of the medical establishment in order to say that autism was not caused by mothers, and that, by his own account, autism was a neurological condition. Courage is not about jumping in front of…
Kiongozi wa ACT Wazalendo, Zitto Kabwe amemteua Bernard Membe kuwa Mshauri Mkuu wa Chama hicho kuanzia jana, Agosti 02, 2020 Zitto amesema amefanya uteuzi...
InfoQ sat down with Emmanuel Bernard to learn more about Bean Validation framework and the community involvement the expert group is seeking.
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Tot sobre Sharpes Prey de Bernard Cornwell. El LibraryThing és un lloc de catalogació i una xarxa social per als amants dels llibres
The visits to St Bernards Hospital and Ealing Community Services took place over two days. During the inspection we visited 12 wards and three community services. We also attended three service user groups where there were approximately 30 people who use the service and/or their representatives. We received comment cards from 18 people who attended the community services during our visits. We also received feedback from some of the independent advocacy services and from a carers network group.. During the inspection we spoke with a minimum of 37 people who use the service and a minimum of 56 staff from various disciplines. The majority of feedback we received from people who use the service was positive and showed people valued the service they received. Comments we received from some people were: the service I have been receiving here has been excellent. Staff are friendly. It has done wonders for me, good help. They are very nice people, the staff are working miracles and the service ...
Bernard Roth is part of Stanford Profiles, official site for faculty, postdocs, students and staff information (Expertise, Bio, Research, Publications, and more). The site facilitates research and collaboration in academic endeavors.
Bernard Roth is part of Stanford Profiles, official site for faculty, postdocs, students and staff information (Expertise, Bio, Research, Publications, and more). The site facilitates research and collaboration in academic endeavors.
Visit Healthgrades for information on Dr. Bernard Plesur, DDS Find Phone & Address information, medical practice history, affiliated hospitals and more.
Visit RateMDs for information on Dr. Kary Bernard in Topeka. Get contact info, maps, medical practice history, affiliated hospitals & more.
WHAT IS LITERATURE? JEAN-PAUL SARTRE Translated from the French by BERNARD FRECHTMAN PHILOSOPHICAL LIBRARY NEW YORK TABLE OF CONTENTS Foreword I What is Writing? 7 II Why Write? 38 III For Whom Does One
Test-Label: iol-mellanox-Performance Test-Status: SUCCESS http://dpdk.org/patch/65016 _Performance Testing PASS_ Submitter: Iremonger, Bernard ,bernard.iremonger at intel.com, Date: Tuesday, January 21 2020 16:02:13 DPDK git baseline: Repo:dpdk Branch: master CommitID:f061f23bcaa619209b9180f8720a128bd719e95b 65016 --, performance testing pass Test environment and result as below: Ubuntu 18.04 Kernel: 4.15.0-generic GCC: 7.4 NIC: Mellanox ConnectX-4 Lx 40000 Mbps Target: x86_64-native-linuxapp-gcc Fail/Total: 0/6 Detail performance results: +------------+---------+-------------------------------------+ , frame_size , txd/rxd , throughput difference from expected , +============+=========+=====================================+ , 64 , 256 , -0.129 , +------------+---------+-------------------------------------+ , 128 , 256 , 0.068 , +------------+---------+-------------------------------------+ , 256 , 256 , 0.018 , +------------+---------+-------------------------------------+ , 512 , 256 , -0.028 ...
Were back and we are so happy to let you know that we are opening the store again on Monday 15th June. We have been working tirelessly behind the scenes to make sure everything is all ready and we cant wait to see you all again. For the safety of our staff and customers we kindly request that you adhere to the follow
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When patients require information to decide whether to accept recommended treatments, a question in both law and ethics is whether the same information is adequ
Lutte pour un res-pect des droits fon-da-men-taux durant la nais-san-ce. Les sou-ve-nirs liés à la gros-ses-se et à la nais-san-ce sont dura-bles.. ...
Le groupe S.M. International Inc. est connu pour le développement et la gestion de projets durables. De la création à la réalisation dun projet, la société intègre tous les principes du concept de...
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Years ago, when our children were small, our beautiful St. Bernard disappeared. We looked everywhere for her for hours. It wasnt like her to leave the children as it was her personal mission to guard them at all times.
Giant platelet disorders are rare disorders featuring abnormally large platelets, thrombocytopenia and a tendency to bleeding. Giant platelets cannot stick adequately to an injured blood vessel walls, resulting in abnormal bleeding when injured. Giant platelet disorder occurs for inherited diseases like Bernard-Soulier syndrome, gray platelet syndrome and May-Hegglin anomaly. Symptoms usually present from the period of birth to early childhood as: nose bleeds, bruising, and/or gum bleeding. Problems later in life may arise from anything that can cause internal bleeding such as: stomach ulcers, surgery, trauma, or menstruation. Abnormality of the abdomen, nosebleeds, heavy menstrual bleeding, purpura, too few platelets circulating in the blood, and prolonged bleeding time have also been listed as symptoms of various Giant Platelet Disorders. Many of the further classifications of Giant Platelet Disorder occur as a result of being genetically passed down through families as an autosomal recessive ...
Platelet glycoprotein Ib alpha chain also known as glycoprotein Ib (platelet), alpha polypeptide or CD42b (Cluster of Differentiation 42b), is a protein that in humans is encoded by the GP1BA gene. Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that are linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Several polymorphisms and mutations have been described in this gene, some of which are the cause of Bernard-Soulier syndromes and ...
Chapter Outline QUALITATIVE DISORDERS Platelet Membrane Glanzmann Thrombasthenia: Defective Platelet Integrin α IIb β 3 Other Integrins in Inherited Platelet Disorders Bernard-Soulier Syndrome: Defective Glycoprotein Ib/IX Complex Platelet-Type von Willebrand Disease (Pseudo-von Willibrand Disease) Other Inherited Defects of Platelet Receptors Defects in Signal Transduction Platelet Storage Granule Defects QUANTITATIVE DISORDERS Disorders of Platelet Production Platelets…
Congenital disorders of platelet function are a heterogeneous group of disorders that are often not detected until bleeding occurs. In clinical settings only a few methods have proven to be useful for identification and classification of inherited platelet disorders. For a rational diagnostic approach, a stepwise algorithm is recommended. Patient history and clinical investigation are mandatory. Von Willebrand disease and other coagulation disorders should always be ruled out prior to specific platelet testing. Platelet count, size, volume (MPV) and morphology may guide further investigations. The PFA-100® CT is suited for screening for severe platelet defects. Platelet aggregometry allows assessment of multiple aspects of platelet function. Flow cytometry enables diagnosis of thrombasthenia Glanzmann, Bernard-Soulier syndrome and storage pool defects. Molecular genetics may confirm a putative diagnosis or pave the way for identifying new defects. We present an unabridged version of the ...
Platelet function is initially assessed using the PFA-100 analyser which offers quantitative assessment of platelet function at high shear as whole blood is forced through an aperture coated with either collagen/epinephrine or collagen/ADP agonists. The test is measured as aperture closure time (CT) in seconds for each COL/EPI and COL/ADP cartridge.. The PFA is sensitive to platelet function defects such as Glanzmanns Thrombasthaenia and Bernard-Soulier Syndrome as well as disorders of von Willebrand factor, though sensitivity is reduced when VWD Type I is included. Aspirin or aspirin-like platelet defects are associated with a significantly prolonged COL/EPI closure time.. ...
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Welcome to the DeinDoktor profile of Dr.Bernard Burri. Dr.Bernard Burri is Surgeon. Dr. Bernard Burri treats and practices in Lausanne. You can book an appointment for a telemedical online consultation with Dr. Bernard Burri . In addition you can request an appointment, see more information and report about the special knowledge of Dr. Bernard Burri yourself.
Semantic Scholar extracted view of Structural basis for the specific inhibition of glycoprotein Ib alpha shedding by an inhibitory antibody by Yue Tao et al.
Has anyone had lab values that included GIANT PLATELETS? My bloodwork is and always has been all over the place in my 11 weeks of treatment - but this is new.
Pathognomonic for 3°Syphilis. Arnold-Chiari Malformation-cerebellar tonsil herniation. Barretts-columnar metaplasia of lower esophagus ( - risk of adenocarcinoma). Bartters Syndrome-hyperreninemia. Beckers Muscular Dystrophy-similar to Duchenne, but less severe (deficiency in dystrophin protein). Bells Palsy-CNVII palsy involves entire face; UMN lesion only affects lower face). Bergers Disease-IgA nephropathy. Bernard-Soulier Disease-defect in platelet adhesion (abnormally large platelets & lack of platelet-surface glycoprotein). Berry Aneurysm. ...
Andrews, R, Shen, Y, Gardiner, E et al 1999, The glycoprotein Ib-IX-V complex in platelet adhesion and signaling, Thrombosis and Haemostasis, vol. 82, no. 2, pp. 357-364. ...
Bernard combined with a capacity for hard and prolonged work in the laboratory his appreciation of the importance of leisure spent in quiet meditation. His adherence to exact truth was absolute, and he was always ready to recognize the limitations or the error of what had seemed like a promising idea until tested in the laboratory. His technical skill was superb, both as an experimental surgeon and as a biochemist. Yet essential as these characteristics were, they are not sufficient to explain his unequaled series of fertile discoveries.. Bernard, first of all, believed strongly in the necessity of always having a working hypothesis, derived from perusal of the literature and observation of natural phenomena, before starting on the experiment proper. He used to say: He who does not know what he is looking for will not lay hold of what he has found when he gets it.. But imagination is not equivalent to genius unless it is joined to what was perhaps Bernards outstanding characteristic, the ...
RAGA, Karolus Emerik (2020) Ritus Piong Sebuah Praktek Keagamaan Dan Ritual Penghormatan Kepada Leluhur Dalam Kepercayaan Masyarakat Kloangpopot Dan Relevansinya Bagi Iman Gereja Katolik. Undergraduate thesis, STFK Ledalero. RAHO, Bernard (2013) Renungan Keluarga Agustus 2013 - Hidup itu Milik Allah. Kana Majalah Keluarga, Tahun ke VIII - Agustus 2013, VIII. pp. 18-19. RAHO, Bernard (2013) Renungan Keluarga April 2013. KANA Majalah Keluarga April 2013, VIII (4). pp. 18-19. RAHO, Bernard (2016) Renungan Keluarga April-Mei-Juni 2016. KANA Majalah Keluarga April-Mei-Juni 2016, XI (2). pp. 18-23. RAHO, Bernard (2013) Renungan Keluarga Bulan Desember 2013. KANA Majalah Keluarga Februari 2014, VIII (12). pp. 18-19. RAHO, Bernard (2015) Renungan Keluarga Bulan Januari-Februari 2015. KANA Majalah Keluarga Januari-Februari 2015, X (01-02). pp. 22-26. RAHO, Bernard (2015) Renungan Keluarga Bulan Juli-Agustus 2015. KANA Majalah Keluarga Bulan Jui-Agustus 2020, X (07-08). pp. 22-26. RAHO, Bernard (2015) ...
These physicians are independent practitioners and are not employees or agents of St. Bernard Hospital. St. Bernard will not be liable for the physicians actions or treatments.. ...
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Variety: Chardonnay The Defaix family is a fourth generation of a family of vine-growers rich in personality. Bernard Defaix started the vineyard in 1959 with 2 ha. Vineyard holdings across the Chablis region of Burgundy have expanded to 27 ha including three Premier Cru vineyards (Côte de Léchet, Vaillons and Lys) a
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Bernard Arnault Contact Details, Email Address, and More details given here. If you want to meet him face to face then read here.
Artwork page for Fallen Bird, Bernard Meadows, 1958 Meadows explained that his work was all about the human condition. The crabs, and the birds, and the armed figures, the pointing figures, are all about fear ... perhaps not fear, its vulnerability. With Fallen Bird this fear and vulnerability is communicated through the spiky, elongated forms of a nestling which has fallen on to the ground, its legs upright and disjointed.
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Visit Healthgrades for information on Dr. Bernard Dingman, DMD Find Phone & Address information, medical practice history, affiliated hospitals and more.
Woking care home, Bernard Sunley, has come to the rescue by answering an urgent call for help from a family who were looking for an essential respite stay.
The clouds gathered over the womens Zionist group Hadassah began to part on December 9, when the organization announced that it had reached a tentative settlement allowing it to pay back about half the money it earned in Bernard Madoffs multibillion dollar Ponzi scheme.
Buy, download and read Molecular Fluorescence ebook online in EPUB or PDF format for iPhone, iPad, Android, Computer and Mobile readers. Author: Bernard Valeur; Mário Nuno Berberan-Santos. ISBN: 9783527650026. Publisher: Wiley. This second edition of the well-established bestseller is completely updated and revised with approximately 30 % additional material, including two new chapters on applications, which has seen the mos
I intend to examine the sources Bernard Shaw uses to reconfigure family structures in his play You Never Can Tell (1895). I will argue that Shaw employs characters who induce pain and offer comfort to adjust the family structure into a viable support unit. Although several of Shaws other plays expl.... Full description. ...
Forty-eight-year-old Bernard Hopkins, who recently became the oldest boxer to win a world title, talks to WSJs Lee Hawkins about how he managed to win the light heavyweight title despite being far
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Yen.com.gh News ☛ Mother of the late popular Kumawood actor, Bishop Bernard Nyarko, Yaa Konadu, has for the first time spoken about how her life has been since the demise of her.
FEDERAL INLAID CANDLESTAND Attributed to Nathan Lumbard 1777-1847 Circa 1810 Primary Wood: Cherry Secondary Wood: Cherry Height: 26 3/4 inches Top Dimensions:
Die Universität zu Köln ist eine Exzellenzuniversität mit dem klassischen Fächerspektrum einer Volluniversität. Als eine der größen Hochschulen Europas arbeitet sie in Forschung und Lehre auch international auf höchstem Niveau.
Our web shop is open for orders and you can still email us about anything you cant see. You can also check out our shop page on https://uk.bookshop.org/shop/stivesbookseller Dismiss ...
Truly tragic the destruction he brought down on his own family, I think theyve all suffered a great deal. I was under the impression that the suits had pretty well cleaned the family out as far as any of Bernies ill gotten gains. Otherwise, havent really heard much at all about the rest of it in quite a while. ...
Better understanding the biophysical basis of the biological process to transfer a viral genome to infect a cell is important to many disease related fields. Pr...
Peckhaus, Volker. Bolzano, Bernard, Erbauungsreden Der Studienjahre 1808/09, Teilband 1, Hg. v. Edgar Morscher Und Kurt F. Strasser (Bernard Bolzano-Gesamtausgabe: Reihe II.A.16,1), Friedrich Frommann Verlag-Günther Holzboog: Stuttgart-Bad Cannstatt 2008. Zentralblatt Für Mathematik Und Ihre Grenzgebiete [Zbl. 1160.01013], Zbl. 1160.01013, 2009 ...
Life isnt about finding yourself.Life is about creating yourself George Bernard ShawThe price of anything is the amount of life y
Chalhoub, B.; Allouis, S.; Šafář, Jan; Janda, Jaroslav; Bellec, A.; Sarda, X.; Arar, C.; Lefévre, A.; Rouault, P.; Pateyron, S.; Dupin, A.; Burgio, G.; Georget, C.; Sourdille, P.; Faivre-Rampant, P.; Caboche, M.; Moore, G.; Bernard, M.; Doležel, Jaroslav ...
Nature Skins a specialized webshop for skin care and improvement Mila dOpiz, MGC-derma en Bernard Cassière Skin care for face and body
Jelle Van Leene (UGent) , Dominique Eeckhout (UGent) , Bernard Cannoot (UGent) , Nancy De Winne (UGent) , Geert Persiau (UGent) , Eveline Van De Slijke (UGent) , Leen Vercruysse (UGent) , Maarten Dedecker (UGent) , Aurine Verkest (UGent) , Klaas Vandepoele (UGent) , et al. ...
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 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 ...
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 ...
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 ...
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 ...
Platelet Coagulation Bernard-Soulier syndrome "Glanzmann thrombasthenia , Genetic and Rare Diseases Information Center (GARD ...
"Familial aquagenic urticaria and bernard-soulier syndrome". Dermatology. 212 (1): 96-7. doi:10.1159/000089035. PMID 16319487. ...
It is deficient in the Bernard-Soulier syndrome. A gain-of-function mutation causes platelet-type von Willebrand disease. ...
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. ...
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. ...
The deficiency in glycoprotein Ib-IX-V complex synthesis leads to Bernard-Soulier syndrome. Glycoprotein VI is one of the ...
"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. ...
"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 ...
Mutations in GP1BA, GP1BB, and GP9 have been shown to cause Bernard-Soulier syndrome (MIM 231200), a bleeding disorder.[ ...
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 ...
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 ...
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 ...
Later, he was diagnosed with Bernard-Soulier syndrome, which complicated his pre-existing injuries and he was given a prognosis ...
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: ...
... and Bernard-Soulier syndrome. Platelet agglutination caused by ristocetin can occur only in the presence of von Willebrand ...
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), ...
... as in Bernard-Soulier syndrome (BSS). RISTOtest can be performed in two concentrations; RISTOhigh and RISTOlow. In RISTOhigh, a ...
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, ...
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). ...
... 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 ...
... 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 ...
... fibrinogen disorders and Bernard-Soulier syndrome Treatment is given intermittently, when there is significant bleeding. It ...
... 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 ...
... 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 ...
... 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 ...
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, ...
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- ...
... 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 ...
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 ...
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 ...
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 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 ...
... Seminars in Thrombosis and Hemostasis. 39 (6): pp. 656-662. ...
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 is the collaborative product of Health Literature, Library and Information Services (HELLIS) Network Member Libraries in the WHO South-East Asia Region ...
Bernard Soulier syndrome. Glanzmann thrombasthenia. Gray platelet syndrome. Hermansky-Pudlak syndrome. Platelet function ...
This paper reports the case of a patient with severe congenital coagulopathy related to Bernard Soulier syndrome. It describes ... the protocol of care for a patient with Bernard Soulier syndrome. Case report. ... Bernard Soulier syndrome. RFO UPF []. 2011, 16, 2, pp. 193-199. ISSN 1413-4012. ...
Disease #00143 (BSS (Bernard-Soulier syndrome), OMIM:231200). Official abbreviation. BSS. Name. Bernard-Soulier syndrome. ...
The Bernard-Soulier syndrome (BSS) is a rare disease with a prevalence of 1/1000 000; it is characterized by ... Keywords: Bernard-Soulier syndrome, GP1BA gene, mutation, GLYCOPROTEIN-IB-ALPHA, LEUCINE-RICH REPEAT, POINT MUTATION, ...
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 ...
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) * ...
... 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 ...
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. ...
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 ...
OMIM:231200: Bernard-Soulier syndrome. *Metabolism (metabolic pathways involving proteins which contain this domain) ...
... with busulfan before hematopoietic stem cell transplantation leads to phenotypic correction of murine Bernard-Soulier syndrome ...
Bernard-Soulier syndrome 156. Bile acid. synthetic defects 149, 152. synthetic disorders 150 ... CHAPTER 7:Meconium Aspiration Syndrome, Persistent Pulmonary Hypertension, and Air Leak*INTRODUCTION ...
Bernard-Soulier Syndrome with Unusual Presentation of Splenic Infarct. Shankar, A., Siddharth, G., Anne, T. A. & Nair, A. U., ... Guillain-Barre syndrome with hyperreflexia: A variant. Singhal, V. & Bhat, K. G., 01-07-2011, In: Journal of Pediatric ...
Bernard-Soulier syndrome: A more severe, rare hereditary PFD that results in an inability of platelets to stick and spread at ...
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). ...
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 ...
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 ...
Bernard-Soulier Syndrome. Thrombotic Thrombocytopenic Purpura (TTP). Hemolytic Uremic Syndrome (HUS). Factor V Leiden ...
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 ...
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 ...
Bernard-Soulier syndrome Active Synonym false false 90700012 Bernard Soulier syndrome Active Synonym false false ... Bernard Soulier syndrome (disorder). Code System Preferred Concept Name. Bernard Soulier syndrome (disorder). ...
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 ...
  • 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)
  • 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)
  • Bernard-Soulier syndrome is a bleeding disorder associated with abnormal platelets, which are blood cells involved in blood clotting. (medlineplus.gov)
  • 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)
  • 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)
  • 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)
  • 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)
  • All of these mutations impair clot formation, which leads to the excessive bleeding characteristic of Bernard-Soulier syndrome. (medlineplus.gov)
  • Non-myeloablative conditioning with busulfan before hematopoietic stem cell transplantation leads to phenotypic correction of murine Bernard-Soulier syndrome. (nih.gov)
  • This paper reports the case of a patient with severe congenital coagulopathy related to Bernard Soulier syndrome. (bvsalud.org)
  • 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)
  • Waterhouse-Friderichsen Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (uams.edu)
  • 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)
  • 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)
  • This type of bleeding problem can be a feature of other inherited conditions (such as Hermansky-Pudlak syndrome and Chediak-Higashi syndrome). (ehc.eu)
  • A hemolytic uremic syndrome (HUS) caused by Shiga toxin-producing organism (E. coli and Shigella), seen in children. (statpearls.com)
  • 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)
  • be and be the relationship to become regardless the syndrome age has swelling even per the patients. (lakesinclair.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)
  • 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)
  • Her top areas of expertise are Bernard-Soulier Syndrome, Malignant Teratoma of the Mediastinum, Blood Clots, and RUNX1 Familial Platelet Disorder. (medifind.com)
  • 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)
  • Other cases can be non-immune mediated, like thrombotic thrombocytopenic purpura , or TTP, and hemolytic-uremic syndrome , or HUS. (osmosis.org)
  • Other disorders in the category of macrothrombocytopenia are the May-Hegglin anomaly and gray platelet syndrome. (medscape.com)
  • 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)
  • 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)
  • This is called Gray Platelet Syndrome, and usually shows up as a long bleeding time, and a low platelet count. (infobloom.com)
  • Bernard-Soulier disease is a rare sex food bleeding disorder caused by a defect in the platelet glycoprotein complex 1b-IX-V. (dangtin.xyz)
  • 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)
  • 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)
  • 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)
  • 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)
  • Women with Bernard-Soulier syndrome often have heavy or prolonged menstrual bleeding (menorrhagia). (medlineplus.gov)
  • It's associated with several related conditions, collectively known as metabolic syndrome. (blijven-vorbei.com)
  • In more severe cases, infection can cause pneumonia, severe acute respiratory syndrome, kidney failure and even death. (esicm.org)
  • In fact, some patients develop both conditions together and that's called Evan's syndrome. (osmosis.org)
  • Some hormone problems may cause overweight and obesity, such as underactive thyroid, Cushing syndrome and polycystic ovary syndrome (PCOS). (blijven-vorbei.com)
  • Females that have siblings that suffer from Bernard Soulier syndrome appear to have a significantly higher chance of developing the condition. (md-health.com)
  • Nerve conduction velocity (NCV) testing suggested likely etiology was from a resolved compartment syndrome. (faoj.org)
  • 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)