Platelet Storage Pool Deficiency
Blood Platelets
Blood Preservation
Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse. (1/32)
The pearl mouse is a model for Hermansky Pudlak Syndrome (HPS), whose symptoms include hypopigmentation, lysosomal abnormalities, and prolonged bleeding due to platelet storage pool deficiency (SPD). The gene for pearl has recently been identified as the beta3A subunit of the AP-3 adaptor complex. The objective of these experiments was to determine if the expression and subcellular distribution of the AP-3 complex were altered in pearl platelets and other tissues. The beta3A subunit was undetectable in all pearl cells and tissues. Also, expression of other subunit proteins of the AP-3 complex was decreased. The subcellular distribution of the remaining AP-3 subunits in platelets, macrophages, and a melanocyte-derived cell line of pearl mice was changed from the normal punctate, probably endosomal, pattern to a diffuse cytoplasmic pattern. Ultrastructural abnormalities in mutant lysosomes were likewise apparent in mutant kidney and a cultured mutant cell line. Genetically distinct mouse HPS models had normal expression of AP-3 subunits. These and related experiments strongly suggest that the AP-3 complex regulates the biogenesis/function of organelles of platelets and other cells and that abrogation of expression of the AP-3 complex leads to platelet SPD. (+info)Morphological changes of platelets following platelet aggregation induced by collagen in Japanese Black cattle with delta-storage pool deficiency. (2/32)
Electron microscopic observation was performed on platelets activated by collagen stimulation in Japanese Black cattle with delta-storage pool deficiency (delta-SPD) to identify their morphological and functional abnormalities compared from normal bovine platelets. Platelets of normal Japanese Black cattle changed their shapes to spherical and were in the phase of release reactions 5 min after the collagen (90.9 microg/ml) stimulation, and most of platelets were aggregated. On the other hand, in GSPD cattle, most of a granules were still dispersed in activated platelets, although the spherical shape change of the platelets was observed. These results suggested that there are abnormalities in the release reactions in platelets of delta-SPD cattle. (+info)Platelet ultrastructural morphometry for diagnosis of partial delta-storage pool disease in patients with mild platelet dysfunction and/or thrombocytopenia of unknown origin. A study of 24 cases. (3/32)
BACKGROUND AND OBJECTIVE: Exact diagnosis is sometimes difficult in patients presenting with a slight bleeding diathesis, prolonged bleeding times, non-specific aggregometric abnormalities, and/or mild thrombocytopenia. The objective of this study was to evaluate the use of platelet ultrastructural morphometry in detecting a partial d-storage pool disease in such patients. DESIGN AND METHODS: Platelets from 52 patients and 15 controls were fixed immediately in glutaraldehyde in White's saline without anticoagulant and processed for transmission electron microscopy. Using computer-assisted morphometry, the size and shape of the platelets were measured, as were the size and number per platelet of the dense- and a-granules. Ultrastructural morphology of the above and other intraplatelet structures was observed. RESULTS: Twenty-four cases were diagnosed as having a partial d-storage pool disease. Mean platelet area (2.28 microm(2)) and maximum diameter (2.58 microm) were significantly greater in patients than in control subjects (1.64 microm(2) and 2. 25 microm, respectively) but discoid shape was preserved. Mean dense-granule number was decreased, both per platelet and per microm(2) of platelet area (patients 0.22 and 0.09; controls 0.42 and 0.24). Seven patients also had a marked decrease in a-granules, resulting in a significantly lower mean number of granules per microm(2 )(patients 2.43; controls 3.15). Additionally, the patients' platelets had significant increases in both lipid droplets and surface-connected canalicular system. INTERPRETATION AND CONCLUSIONS: A partial dense-granule deficiency, sometimes associated with partial a-granule deficiency, should be borne in mind faced with patients who have a slight bleeding diathesis, non-specific platelet dysfunction tests and/or mild thrombocytopenia of unknown origin. Platelet ultrastructural morphometry is useful in diagnosing this condition. (+info)Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. (4/32)
Hermansky-Pudlak syndrome (HPS), consisting of oculocutaneous albinism and a bleeding diathesis due to the absence of platelet dense granules, displays extensive locus heterogeneity. HPS1 mutations cause HPS-1 disease, and ADTB3A mutations cause HPS-2 disease, which is known to involve abnormal intracellular vesicle formation. A third HPS-causing gene, HPS3, was recently identified on the basis of homozygosity mapping of a genetic isolate of HPS in central Puerto Rico. We now describe the clinical and molecular characteristics of eight patients with HPS-3 who are of non-Puerto Rican heritage. Five are Ashkenazi Jews; three of these are homozygous for a 1303+1G-->A splice-site mutation that causes skipping of exon 5, deleting an RsaI restriction site and decreasing the amounts of mRNA found on northern blotting. The other two are heterozygous for the 1303+1G-->A mutation and for either an 1831+2T-->G or a 2621-2A-->G splicing mutation. Of 235 anonymous Ashkenazi Jewish DNA samples, one was heterozygous for the 1303+1G-->A mutation. One seven-year-old boy of German/Swiss extraction was compound heterozygous for a 2729+1G-->C mutation, causing skipping of exon 14, and resulting in a C1329T missense (R396W), with decreased mRNA production. A 15-year-old Irish/English boy was heterozygous for an 89-bp insertion between exons 16 and 17 resulting from abnormal splicing; his fibroblast HPS3 mRNA is normal in amount but is increased in size. A 12-year-old girl of Puerto Rican and Italian background has the 3,904-bp founder deletion from central Puerto Rico on one allele. All eight patients have mild symptoms of HPS; two Jewish patients had received the diagnosis of ocular, rather than oculocutaneous, albinism. These findings expand the molecular diagnosis of HPS, provide a screening method for a mutation common among Jews, and suggest that other patients with mild hypopigmentation and decreased vision should be examined for HPS. (+info)Phosphotyrosine proteins in platelets from patients with storage pool disease: direct relation between granule defects and defective signal transduction. (5/32)
BACKGROUND AND OBJECTIVES: Storage pool diseases (SPD) are heterogeneous disorders associated with an abnormal presence of intraplatelet granules, which cause mild to moderate bleeding diathesis. We investigated signaling through tyrosine phosphorylation of proteins occurring in platelets with total or partial absence of dense- and alpha-granules in response to activation. DESIGN AND METHODS: We included a patient with severe delta-SPD, a patient with severe alpha-SPD or gray platelet syndrome, and six patients with partial deficiency of dense or a-granules. SPD was confirmed by electron microscopy evaluation of platelet ultrastructure. Platelet function was evaluated by bleeding time determination and conventional aggregometry. Platelet suspensions were activated with collagen and thrombin to analyze changes in tyrosine phosphorylation of proteins by electrophoresis and Western-blotting. RESULTS: Bleeding times were prolonged in all the patients included. Aggregation responses were slightly decreased in delta-SPD and normal in the rest of patients. Tyrosine phosphorylation in platelets from patients with partial forms of SPD was equivalent to that observed in control platelets, absent in response to collagen and thrombin activation in delta-SPD, and deficient only to thrombin activation in alpha-SPD. INTERPRETATION AND CONCLUSIONS: Tyrosine phosphorylation of proteins in activated platelets is highly dependent on the substances contained in the dense-granules and moderately dependent on those contained in the alpha-granules. A minimum amount of intraplatelet granules ensures signaling through tyrosine phosphorylation of proteins. (+info)The regulation of platelet-dense granules by Rab27a in the ashen mouse, a model of Hermansky-Pudlak and Griscelli syndromes, is granule-specific and dependent on genetic background. (6/32)
The ashen (ash) mouse, a model for Hermansky-Pudlak syndrome (HPS) and for a subset of patients with Griscelli syndrome, presents with hypopigmentation, prolonged bleeding times, and platelet storage pool deficiency due to a mutation which abrogates expression of the Rab27a protein. Platelets of mice with the ashen mutation on the C3H/HeSnJ inbred strain background have greatly reduced amounts of dense granule components such as serotonin and adenine nucleotides though near-normal numbers of dense granules as enumerated by the dense granule-specific fluorescent dye mepacrine. Thus, essentially normal numbers of platelet dense granules are produced but the granule interiors are abnormal. Collagen-mediated aggregation of mutant platelets is significantly depressed. No abnormalities in the concentrations or secretory rates of 2 other major platelet granules, lysosomes and alpha granules, were apparent. Similarly, no platelet ultrastructural alterations other than those involving dense granules were detected. Therefore, Rab27a regulates the synthesis and secretion of only one major platelet organelle, the dense granule. There were likewise no mutant effects on levels or secretion of lysosomal enzymes of several other tissues. Together with other recent analyses of the ashen mouse, these results suggest a close relationship between platelet dense granules, melanosomes of melanocytes and secretory lysosomes of cytotoxic T lymphocytes, all mediated by Rab27a. Surprisingly, the effects of the ashen mutation on platelet-dense granule components, platelet aggregation, and bleeding times were highly dependent on genetic background. This suggests that bleeding tendencies may likewise vary among patients with Griscelli syndrome and HPS with Rab27a mutations. (+info)A clinical variant of familial Hermansky-Pudlak syndrome. (7/32)
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive inherited disease consisting of (1) partial oculocutaneous albinism (with nystagmus, strabism, and visual acuity loss), (2) platelet storage pool deficiency (with bleeding diathesis), and (3) disorder of "ceroid" metabolism with a multisystem tissue lysosomal ceroid deposition. HPS is less uncommon in Puerto Rico, where the most important studies have been performed, but is a very rare disease in Europe. HPS basic defect remains unknown, even if an HPS-causing gene was identified in chromosome segment 10q23-q23.3, and several mutations have been reported. The aim of this article is to discuss, on the basis of a review of relevant literature, a new familial HPS clinical variant observed in 2 young sisters (aged 16 and 23 years old, respectively), characterized by the typical symptoms of this syndrome. Our patients also suffered from diffuse interstitial pulmonary disease and an unexpectedly increased platelet aggregation and were prone to bacterial infections. Interestingly, we observed urinary tract abnormality in the younger HPS sister and a porencephalic cyst in the older HPS sister; both of these developmental defects have been reported in the Cross syndrome (or oculocerebral hypopigmentation syndrome). It seems that in our patients, an overlapping of the phenotypic manifestations of different rare syndromes may be present. The presence of ceroid-like autofluorescent material in urinary sediment together with the histologic aspects and the autofluorescence of oral mucosa biopsy are consistent with a ceroid-like lipofuscin storage. HPS should be carefully tested for in suspected cases to prevent the severe visual impairment, rapidly progressive pulmonary fibrosis, and other complications associated with this disorder. (+info)Mutation analysis of HPS1, the gene mutated in Hermansky-Pudlak syndrome, in patients with isolated platelet dense-granule deficiency. (8/32)
BACKGROUND AND OBJECTIVES: Isolated platelet dense granule (PDG) deficiency is a heterogeneous disorder frequently found among patients with mild to moderate bleeding diatheses. However, the molecular basis of this disorder is unknown. Genes involved in other rare bleeding disorders with associated reduction in the numbers of platelet dense-granules may play a role in isolated PDG deficiency. Among such genes, HPS1 is known to play a key role in the genesis of PDG and as many as 18 different HPS1 mutations have been identified in patients with Hermansky-Pudlak syndrome. Recently, we have identified subjects with one HPS1 heterozygous mutation displaying significant reductions in PDG without the clinical phenotype of Hermansky-Pudlak syndrome. This suggested that HPS1 mutations could be involved in isolated PDG deficiency. DESIGN AND METHODS: We sequenced all coding exons, and flanking intron regions of HPS1 in 16 patients with mild to severe PDG deficiency, most of whom had mild bleeding episodes. Nine patients reported a familial history of bleeding diathesis with PDG deficiency. We also evaluated the prevalence of HPS1 variations in 215 controls. Transmission electron microscopy was used to evaluate the number and morphology of PDG from patients and selected controls. RESULTS: No patient with PDG deficiency carried severe mutations of the HPS1 gene. We identified 6 previously described and 5 new polymorphisms in the HPS1 gene. Platelet electron microscopy in controls carrying these polymorphisms revealed that they did not significantly modify the number or morphology of PDG. INTERPRETATION AND CONCLUSIONS: Mutations affecting the HPS1 gene play a minor role in isolated PDG deficiency. These results support a molecular heterogeneity responsible for the number and morphology of PDG. (+info)Platelet Storage Pool Deficiency (SPD) is a group of bleeding disorders characterized by a decrease in the number or function of secretory granules (storage pools) within platelets, leading to impaired secretion of granule contents and compromised platelet aggregation, ultimately resulting in increased bleeding tendency.
Platelet Storage Pool Deficiency (PSPD) is a group of bleeding disorders characterized by a decrease in the number or function of secretory granules (storage pools) in platelets, which are small blood cells that play a crucial role in clotting. These granules contain various substances such as ADP (adenosine diphosphate), ATP (adenosine triphosphate), calcium ions, and serotonin, which are released during platelet activation to help promote clot formation.
In PSPD, the quantitative or qualitative deficiency of these granules leads to impaired platelet function and increased bleeding tendency. The condition can be inherited or acquired, and it is often classified based on the type of granule affected: dense granules (delta granules) or alpha granules.
Delta granule deficiency, also known as Dense Granule Deficiency (DGD), results in decreased levels of ADP, ATP, and calcium ions, while alpha granule deficiency leads to reduced levels of von Willebrand factor, fibrinogen, and other clotting factors.
Symptoms of PSPD can vary from mild to severe and may include easy bruising, prolonged bleeding after injury or surgery, nosebleeds, and gum bleeding. The diagnosis typically involves platelet function tests, electron microscopy, and genetic testing. Treatment options depend on the severity of the condition and may include desmopressin (DDAVP), platelet transfusions, or other medications to manage bleeding symptoms.
'Blood Platelet Disorders' refer to conditions characterized by abnormalities in the number, structure, or function of platelets, leading to altered hemostasis which may result in bleeding disorders or thrombotic complications.
Blood platelet disorders are conditions that affect the number and/or function of platelets, which are small blood cells that help your body form clots to stop bleeding. Normal platelet count ranges from 150,000 to 450,000 platelets per microliter of blood. A lower-than-normal platelet count is called thrombocytopenia, while a higher-than-normal platelet count is called thrombocytosis.
There are several types of platelet disorders, including:
1. Immune thrombocytopenia (ITP): A condition in which the immune system mistakenly attacks and destroys platelets, leading to a low platelet count. ITP can be acute (lasting less than six months) or chronic (lasting longer than six months).
2. Thrombotic thrombocytopenic purpura (TTP): A rare but serious condition that causes blood clots to form in small blood vessels throughout the body, leading to a low platelet count, anemia, and other symptoms.
3. Hemolytic uremic syndrome (HUS): A condition that is often caused by a bacterial infection, which can lead to the formation of blood clots in the small blood vessels of the kidneys, resulting in kidney damage and a low platelet count.
4. Hereditary platelet disorders: Some people inherit genetic mutations that can affect the number or function of their platelets, leading to bleeding disorders such as von Willebrand disease or Bernard-Soulier syndrome.
5. Medication-induced thrombocytopenia: Certain medications can cause a decrease in platelet count as a side effect.
6. Platelet dysfunction disorders: Some conditions can affect the ability of platelets to function properly, leading to bleeding disorders such as von Willebrand disease or storage pool deficiency.
Symptoms of platelet disorders may include easy bruising, prolonged bleeding from cuts or injuries, nosebleeds, blood in urine or stools, and in severe cases, internal bleeding. Treatment for platelet disorders depends on the underlying cause and may include medications, surgery, or other therapies.
Blood platelets, also known as thrombocytes, are small anucleate cell fragments derived from megakaryocytes in the bone marrow that play crucial roles in hemostasis, including plug formation at the site of vessel injury and initiation of the coagulation cascade.
Blood platelets, also known as thrombocytes, are small, colorless cell fragments in our blood that play an essential role in normal blood clotting. They are formed in the bone marrow from large cells called megakaryocytes and circulate in the blood in an inactive state until they are needed to help stop bleeding. When a blood vessel is damaged, platelets become activated and change shape, releasing chemicals that attract more platelets to the site of injury. These activated platelets then stick together to form a plug, or clot, that seals the wound and prevents further blood loss. In addition to their role in clotting, platelets also help to promote healing by releasing growth factors that stimulate the growth of new tissue.
'Blood preservation' is the process of keeping blood safe and viable for transfusion purposes through the use of anticoagulants, proper storage conditions, and rigorous testing, maintaining its quality and effectiveness over an extended period.
Blood preservation refers to the process of keeping blood viable and functional outside of the body for transfusion purposes. This is typically achieved through the addition of various chemical additives, such as anticoagulants and nutrients, to a storage solution in which the blood is contained. The preserved blood is then refrigerated or frozen until it is needed for transfusion.
The goal of blood preservation is to maintain the structural integrity and functional capacity of the red blood cells, white blood cells, and platelets, as well as the coagulation factors, in order to ensure that the transfused blood is safe and effective. Different storage conditions and additives are used for the preservation of different components of blood, depending on their specific requirements.
It's important to note that while blood preservation extends the shelf life of donated blood, it does not last indefinitely. The length of time that blood can be stored depends on several factors, including the type of blood component and the storage conditions. Regular testing is performed to ensure that the preserved blood remains safe and effective for transfusion.
Cytoplasmic granules are membrane-bound organelles or inclusions within the cytoplasm, consisting of various biochemical substances, such as proteins, lipids, and carbohydrates, that play crucial roles in cellular functions like secretion, defense, and energy storage.
Cytoplasmic granules are small, membrane-bound organelles or inclusions found within the cytoplasm of cells. They contain various substances such as proteins, lipids, carbohydrates, and genetic material. Cytoplasmic granules have diverse functions depending on their specific composition and cellular location. Some examples include:
1. Secretory granules: These are found in secretory cells and store hormones, neurotransmitters, or enzymes before they are released by exocytosis.
2. Lysosomes: These are membrane-bound organelles that contain hydrolytic enzymes for intracellular digestion of waste materials, foreign substances, and damaged organelles.
3. Melanosomes: Found in melanocytes, these granules produce and store the pigment melanin, which is responsible for skin, hair, and eye color.
4. Weibel-Palade bodies: These are found in endothelial cells and store von Willebrand factor and P-selectin, which play roles in hemostasis and inflammation.
5. Peroxisomes: These are single-membrane organelles that contain enzymes for various metabolic processes, such as β-oxidation of fatty acids and detoxification of harmful substances.
6. Lipid bodies (also called lipid droplets): These are cytoplasmic granules that store neutral lipids, such as triglycerides and cholesteryl esters. They play a role in energy metabolism and intracellular signaling.
7. Glycogen granules: These are cytoplasmic inclusions that store glycogen, a polysaccharide used for energy storage in animals.
8. Protein bodies: Found in plants, these granules store excess proteins and help regulate protein homeostasis within the cell.
9. Electron-dense granules: These are found in certain immune cells, such as mast cells and basophils, and release mediators like histamine during an allergic response.
10. Granules of unknown composition or function may also be present in various cell types.
Platelet storage pool deficiency
Dense granules δ-Storage pool deficiency Hermansky-Pudlak syndrome Chédiak-Higashi syndrome Platelet storage pool deficiency ... Platelet storage pool deficiency is a type of coagulopathy characterized by defects in the granules in platelets, particularly ... Anemia Decrease mean platelet volume Myelodysplasia The condition of platelet storage pool deficiency can be acquired or ... PubMed Scholia has a topic profile for Platelet storage pool deficiency. (Articles with short description, Short description is ...
PLDN
... syntaxin 13-interacting protein involved in platelet storage pool deficiency". Nat Genet. 23 (3): 329-32. doi:10.1038/15507. ... a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense ... a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense ...
STX12
... syntaxin 13-interacting protein involved in platelet storage pool deficiency". Nature Genetics. 23 (3): 329-32. doi:10.1038/ ... syntaxin 13-interacting protein involved in platelet storage pool deficiency". Nature Genetics. 23 (3): 329-32. doi:10.1038/ ...
ABCC4
... in platelet adenine nucleotide-storage: evidence from patients with delta-storage pool deficiencies". The American Journal of ...
HPS3
Type 3 in Ashkenazi Jews and Other Non-Puerto Rican Patients with Hypopigmentation and Platelet Storage-Pool Deficiency". Am. J ... 2007). "Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome". Platelets. 18 (2): 150-7. doi: ... The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes ...
Coagulation
... gray platelet syndrome (deficient alpha granules), and delta storage pool deficiency (deficient dense granules). Most are rare ... Activation of platelets and platelet plug formation: Platelet activation: Platelet activators, such as platelet activating ... thrombin is generated by activated platelets at the initiation of the platelet plug, which in turn promotes more platelet ... Platelet plug formation: The adhered platelets aggregate and form a temporary plug to stop bleeding. This process is often ...
Platelet
... syndrome Gray platelet syndrome ADP receptor defect Decreased cyclooxygenase activity Platelet storage pool deficiency ... Platelets also secrete platelet-derived growth factor (PDGF). Platelets modulate neutrophils by forming platelet-leukocyte ... Pooled whole-blood platelets, sometimes called "random" platelets, are separated by one of two methods. In the US, a unit of ... Platelets secrete thromboxane A2, which acts on the platelet's own thromboxane receptors on the platelet surface (hence the so- ...
List of diseases (S)
... familial Stomach cancer Stomatitis Storage pool platelet disease Stormorken-Sjaastad-Langslet syndrome Strabismus Stratton- ... Succinic semialdehyde dehydrogenase deficiency Succinyl-CoA acetoacetate transferase deficiency Sucrase-isomaltase deficiency ... Austin type Sulfite and xanthine oxydase deficiency Sulfite oxidase deficiency Summitt syndrome Superior mesenteric artery ... Miller syndrome Say-Carpenter-syndrome Say-Field-Coldwell syndrome Say-Meyer syndrome Scabies Scab Face SCAD deficiency Scalp ...
Acid sphingomyelinase
The lysosomal storage disorders Niemann-Pick disease, SMPD1-associated (Type A and B) are characterized by a deficiencies in ... In circulating platelets there is no neutral SMase activity, but they do have S-SMase enzymatic activity. It has been shown ... Sphingomyelin phosphodiesterase 1 [SMPD1] is the gene that codes for two aSMase enzymes distinct in the pools of Sphingomyelin ... Niemann-Pick Type C (NPC) is also a lysosomal storage disorder, but instead is caused by a mutation in either NPC1 or NPC2 gene ...
List of MeSH codes (C15)
... platelet storage pool deficiency MeSH C15.378.100.685.400 - hermanski-pudlak syndrome MeSH C15.378.100.800 - protein s ... platelet storage pool deficiency MeSH C15.378.140.735.400 - hermanski-pudlak syndrome MeSH C15.378.140.810 - thrombasthenia ... platelet storage pool deficiency MeSH C15.378.463.735.400 - hermanski-pudlak syndrome MeSH C15.378.463.740 - purpura, ... factor v deficiency MeSH C15.378.100.141.310 - factor vii deficiency MeSH C15.378.100.141.320 - factor x deficiency MeSH ...
Von Willebrand disease
... normal donor platelets. However, when the assay is performed with the patient's own platelets (platelet-rich plasma), a lower- ... Deficiency of VWF can then lead to a reduction in factor VIII levels, which explains the elevation in PTT. Normal levels do not ... In cases of suspected acquired von Willebrand syndrome, a mixing study (analysis of patient plasma along with pooled normal ... The chance of procedural errors are typically greatest during the preanalytical phase (during collecting storage and ...
Gaucher's disease
Patients in this group usually bruise easily (due to low levels of platelets) and experience fatigue due to low numbers of red ... Gaucher's disease is the most common of the lysosomal storage diseases. It is a form of sphingolipidosis (a subgroup of ... The Gaucher-causing mutations may have entered the Ashkenazi Jewish gene pool in the early Middle Ages (48-55 generations ago ... Evidence of an enzymatic deficiency in Gaucher's disease". Biochemical and Biophysical Research Communications. 18 (2): 221-5. ...
Phosphofructokinase 1
... platelet A genetic mutation in the PFKM gene results in Tarui's disease, which is a glycogen storage disease where the ability ... Nakajima H, Raben N, Hamaguchi T, Yamasaki T (March 2002). "Phosphofructokinase deficiency; past, present and future". Curr. ... the kinetic and regulatory properties of the various isoenzymes pools are dependent on subunit composition. Tissue-specific ... Tarui disease is a glycogen storage disease with symptoms including muscle weakness (myopathy) and exercise induced cramping ...
Cirrhosis
... platelet sequestering in the spleen, and decreased thrombopoietin. However, this rarely results in a platelet count < 50,000/mL ... In primary biliary cholangitis, there is fibrosis around the bile duct, the presence of granulomas and pooling of bile. Lastly ... and storage (for example, of vitamin A and glycogen). In addition, it participates in the metabolism of lipids and ... fat-soluble vitamin deficiencies, and metabolic bone disease. A strong association with inflammatory bowel disease is seen, ...
Blood donation
"In Vitro Evaluation of Buffy Coat Derived Platelet Concentrates in SSP+ Platelet Storage Medium". Transfusion Medicine. 16: 26 ... Platelets can also be separated from whole blood, but they must be pooled from multiple donations. From three to ten units of ... iron deficiency and/or anaemia in blood donors". Cochrane Database Syst Rev. 7 (7): CD009532. doi:10.1002/14651858.CD009532. ... There are no storage methods to keep platelets for extended periods of time, though some were being studied as of 2008. The ...
Blood bank
Platelet storage lesion is a very different phenomenon from RBC storage lesion, due largely to the different functions of the ... Platelets are typically pooled before transfusion and have a shelf life of 5 to 7 days, or 3 days once the facility that ... Red blood cells or packed cells is transfused to patients with anemia/iron deficiency. It also helps to improve the oxygen ... Transfusions of platelets are comparatively far less numerous, but they present unique storage/management issues. Platelets may ...
Splenomegaly
Dec 2003). "Human immunodeficiency virus-associated hemophagocytosis with iron-deficiency anemia and massive splenomegaly". ... by pooled blood (e.g., portal hypertension) Infiltrative, by invasion by cells foreign to the splenic environment (e.g., ... erythrocytes or platelets in any combination; a compensatory proliferative response in the bone marrow; and the potential for ... metastases, myeloid neoplasms, lipid storage diseases) Immune, by an increase in immunologic activity and subsequent ...
Fatty liver disease
Buchman AL, Ament ME, Sohel M, Dubin M, Jenden DJ, Roch M, Pownall H, Farley W, Awal M, Ahn C (2016). "Choline deficiency ... For example, AST-to-platelets ratio index (APRI score) and several other scores, calculated from the results of blood tests, ... Metabolic abetalipoproteinemia, glycogen storage diseases, Weber-Christian disease, acute fatty liver of pregnancy, ... a diagnostic accuracy systematic review and individual participant data pooled analysis". European Radiology. 26 (5): 1431-1440 ...
Hematopoietic stem cell niche
Indeed, deletion of HIF1A increases HSC proliferation and eventually depletes the LT-HSC storage pool. This suggests that the ... Many human blood cells, such as red blood cells (RBCs), immune cells, and even platelets all originate from the same progenitor ... Visnjic, D (2004). "Hematopoiesis is severely altered in mice with an induced osteoblast deficiency". Blood. 103 (9): 3258-3264 ... Pluripotent long-term (LT)-HSCs self-renew to maintain the HSC pool, as well as differentiate into short-term (ST)-HSCs. ...
Oxford-AstraZeneca COVID-19 vaccine
... seven cases of cerebral vein thrombosis in conjunction with a deficiency of blood platelets had occurred. According to the PEI ... a pooled analysis of four randomised trials". Lancet. 397 (10277): 881-891. doi:10.1016/S0140-6736(21)00432-3. PMC 7894131. ... University and AstraZeneca collaboration was seen as having the potential as being a low-cost vaccine with no onerous storage ... Vomiting, diarrhoea, fever, swelling, redness at the injection site and low levels of blood platelets occurred in less than 1 ...
Glossary of diabetes
In the brain, these produce hematomas (i.e., pools of blood within the skull). The other kind is an ischemic stroke in which ... Thus, '...his nutrition has been deficient in the past several weeks, as he is showing signs of scurvy, the deficiency disease ... DNA is the chief genetic information storage structure of nearly all life on Earth. In humans and other multi-cellular ... including platelets). Broken pieces of those deposits or closure of the arterial opening can cause myocardial infarction or ...
Platelet storage pool deficiency - Wikipedia
Dense granules δ-Storage pool deficiency Hermansky-Pudlak syndrome Chédiak-Higashi syndrome Platelet storage pool deficiency ... Platelet storage pool deficiency is a type of coagulopathy characterized by defects in the granules in platelets, particularly ... Anemia Decrease mean platelet volume Myelodysplasia The condition of platelet storage pool deficiency can be acquired or ... PubMed Scholia has a topic profile for Platelet storage pool deficiency. (Articles with short description, Short description is ...
Orphanet: Gray platelet syndrome
Alpha storage pool deficiency. *GPS. *Platelet alpha-granule deficiency. *Prevalence: *Inheritance: Autosomal dominant or ... and congenital conditions such as alpha-delta granule deficiency, white platelet syndrome and Quebec platelet disorder (see ... Gray platelet syndrome. Disease definition Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by ... Alpha-granules are the most abundant vesicles in platelets and store proteins that promote platelet adhesiveness and wound ...
Pigmented Purpuric Dermatosis: Background, Pathophysiology, Etiology
JCI - Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome
... storage pool deficiency (SPD); platelet-rich plasma (PRP); PBS with 0.2% Tween-20 (PBST); electron microscopy (EM); postnuclear ... in a total of 200 platelets, indicating that these mice do not have a storage pool deficiency. To confirm these findings, we ... recessive disorder characterized by oculocutaneous albinism and hemorrhagic episodes due to platelet storage pool deficiency ( ... Platelets were isolated, fixed, and processed for EM as described under Methods. Ashen (ash/ash) platelets (a) appear normal ...
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SMART: CCP domain annotation
OMIM:173610: Platelet alpha/delta storage pool deficiency. Complement C2 (P06681) (SMART). OMIM:217000: C2 deficiency. ... Molecular and cellular basis of deficiency of the b subunit for factor XIII secondary to a Cys430-Phe mutation in the seventh ... We studied the defect responsible for deficiency of the b subunit for factor XIII in the first known case of this condition. ... A missense mutation in seventh CCP domain causes deficiency of the b subunit of factor XIII. ...
WikiGenes - Fluorescent Antibody Technique
Platelet Aggregation Is Not Initiated by Platelet Shape Change | Laboratory Investigation
These observations suggest an alternative role for platelet shape change of single platelets. ... it is widely held that platelet shape change is a prerequisite for platelet aggregation. We conducted this study to determine ... Platelets were activated with ADP, thrombin, or the thrombin receptor agonist peptide SFLLRN (TRAP1-6). In every case the ... We conclude that platelet aggregation occurs independently of shape change and that shape change is not necessarily followed by ...
Platelet Disorders: Overview of Platelet Disorders, Pathophysiology of Platelet Disorders, Autoimmune Thrombocytopenias
The platelets arise from the fragmentation of the cytoplasm of megakaryocytes in the bone marrow and circulate in blood as disc ... The hemostatic system consists of platelets, coagulation factors, and the endothelial cells lining the blood vessels. ... ADP is present in the dense granules of platelets as a storage pool, which is not used in the normal metabolic activity of ... The defects result from either the absence of granules in platelets or the defective storage of ADP. Inherited deficiency of ...
Functional Platelet Disorders | Choose the Right Test
... or aggregation of platelets and are frequently associated with excessive bleeding, often following trauma or surgery. These ... Delta storage pool deficiency (dense granule deficiency). Normal platelet count and morphology. Absent secondary wave in ... storage pool disorder). Normal platelet count and morphology. Findings will be similar to those seen in delta storage pool ... Gray platelet syndrome (storage pool disorder). Decreased platelet number. Peripheral smear shows large pale, agranular ...
DeCS
Platelet Storage Pool Disease Storage Pool Deficiencies Storage Pool Deficiency Storage Pool Deficiency, Platelet Storage Pool ... Deficiencies, Storage Pool Deficiency, Platelet Storage Pool Deficiency, Storage Pool Platelet Storage Pool Deficiencies ... Platelet Storage Pool Deficiencies. Platelet Storage Pool Disease. Storage Pool Deficiencies. Storage Pool Deficiency. Storage ... Deficiencies, Storage Pool. Deficiency, Platelet Storage Pool. Deficiency, Storage Pool. Familial Platelet Storage Pool Disease ...
Specific PHGKB|Rare Diseases PHGKB|PHGKB
Congenital platelet function defects: MedlinePlus Medical Encyclopedia
... called platelets, from working as they should. Platelets help the blood clot. Congenital means present from ... called platelets, from working as they should. Platelets help the blood clot. Congenital means present from ... Congenital platelet function defects are conditions that prevent clotting elements in the blood, ... Congenital platelet function defects are conditions that prevent clotting elements in the blood, ...
قندکافت
Glanzmann's Thrombasthenia: Essential Glossary | Glanzmann's Research Foundation
Also called Gray Platelet Syndrome.. Alpha/Delta Storage Pool Deficiency. A type of Storage Pool Disease in which the platelets ... Delta Storage Pool Deficiency. A type of Storage Pool Disease in which the platelets have few or no dense (or delta) granules. ... Alpha Storage Pool Deficiency. A type of Storage Pool Disease in which the alpha granules inside a platelet are missing. ... Storage spaces inside platelets that normally hold different chemicals and proteins.. Gray Platelet Syndrome. See Alpha Storage ...
Platelet Dysfunction
Towards the targeted management of Chediak-Higashi syndrome | Orphanet Journal of Rare Diseases | Full Text
Platelet function studies are consistent with a storage pool deficiency with reduced dense bodies and consequent defects of ... Masliah-Planchon J, Darnige L, Bellucci S: Molecular determinants of platelet delta storage pool deficiencies: an update. Br J ... Patients may exhibit an increased bleeding tendency owing to platelet dysfunction caused by delta storage pool deficiency. ... while platelet granules are often present in platelets from patients with late-onset CHS [18],[39]. This observation is also ...
Platelet - wikidoc
Alpha-Delta platelet storage pool deficiency (αδSPD) is a rare inherited bleeding disorder.[6] ... Pooled Whole Blood Platelets, sometimes called "random" platelets, are made by taking a unit of Whole Blood from a donor that ... Platelets are either isolated from collected units of Whole Blood and pooled to make a therapeutic dose or collected by ... These are expressed into different bags for storage. From four to six of these are typically pooled into a single bag for a ...
Identification of antiplatelet and acetylcholinesterase inhibitory constituents in betel nut
Enhanced increases in cytosolic Ca2+ in ADP-stimulated platelets from patients with δ-storage pool deficiency - a possible ... Results: Ac.Cr inhibited platelet aggregation induced by arachidonic acid (AA), adenosine diphosphate (ADP), platelet- ... Key words: Areca catechu, plant extracts, platelet aggregation inhibitors, cholinesterase inhibitors, catechin, tannic acid ... Areca catechu,plant extracts,platelet aggregation inhibitors,cholinesterase inhibitors,catechin,tannic acid". Please open it by ...
Dermatologic Manifestations of Albinism: Background, Pathophysiology, Epidemiology
Individuals with Hermansky-Pudlak syndrome manifest a bleeding diathesis resulting from a platelet storage pool deficiency. ... They also develop a ceroid storage disease in which a ceroid-lipofuscin material accumulates in various organ systems, ... platelet, pneumocyte, and reticular cell dysfunction. Griscelli syndrome can also manifest with immunodeficiency and neurologic ...
Congenital hemolytic anemia
... platelet storage pool deficiency (Hermansky-Pudlak syndrome, Gray platelet syndrome) ... primary: Antithrombin III deficiency · Protein C deficiency/Activated protein C resistance/Protein S deficiency/Factor V Leiden ... Platelet function. adhesion (Bernard-Soulier syndrome) · aggregation (Glanzmanns thrombasthenia) · ... multiple intracellular enzyme deficiencies or… … Medical dictionary ...
New tests launched in June - Insights
Platelet Storage Pool Deficiency Gene Panel, Next-Generation Sequencing, Varies. Evaluating hereditary platelet storage pool ... deficiencies in patients with a personal or family history suggestive of a hereditary platelet storage pool deficiency. ... GNPFD , Platelet Function Defect Gene Panel, Next-Generation Sequencing, Varies. Diagnosing hereditary platelet function defect ... Evaluating hereditary platelet disorders in patients with a personal or family history suggestive of a hereditary platelet ...
Fact file for Hermansky-Pudlak syndrome 2
... bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse ... Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. ... cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. ...
Pesquisa | Portal Regional da BVS
Blood Platelet Disorders | Profiles RNS
Blood Platelet Disorders. *Bernard-Soulier Syndrome. *Gray Platelet Syndrome. *Platelet Storage Pool Deficiency ... How platelets work: platelet function and dysfunction. J Thromb Thrombolysis. 2003 Aug-Oct; 16(1-2):7-12. ... Clinical Cytometry for Platelets and Platelet Disorders. Clin Lab Med. 2023 09; 43(3):445-454. ... Expert opinion on the use of platelet secretion assay for the diagnosis of inherited platelet function disorders: Communication ...
Factor VII Deficiency | Profiles RNS
Platelet Storage Pool Deficiency. *Purpura, Thrombocytopenic, Idiopathic. *Thrombasthenia. *Thrombocythemia, Essential. * ... "Factor VII Deficiency" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical ... This graph shows the total number of publications written about "Factor VII Deficiency" by people in this website by year, and ... An autosomal recessive characteristic or a coagulation disorder acquired in association with VITAMIN K DEFICIENCY. FACTOR VII ...
October 2020 - How NF-B is activated: the role of the IB kinase (IKK) complex
... by degranulation of triggered platelets and secondary storage pool deficiency (2). In addition to their traditional function in ... Unequivocal evidence for platelet activation has been revealed by several studies and is reflected by platelet activation ... To be able to determine the contribution of TLRs to platelet activation in ET, we evaluated TLR2- and TLR4-mediated platelet ... LPS elicits platelet IL-1 RNA synthesis and splicing, providing further proof for the participation of TLR4 in platelet ...
Спадкові внутрішні розлади тромбоцитів - Гематологія і онкологія - MSD Manual Professional Edition
They may result from decreased ADP in the platelet granules (storage pool deficiency), from an inability to generate ... Platelet adhesion (ie, of platelets to exposed vascular subendothelium) requires von Willebrand factor (VWF) and the platelet ... Platelet activation promotes platelet aggregation and fibrinogen binding and requires the platelet glycoprotein IIb/IIIa ... which causes platelet dysfunction. Bleeding tendency is usually... прочитати більше is due to a deficiency or defect in the von ...
Long COVID: Cardiovascular implications and POTS
The cleaved peptide of the thrombin receptor is a strong platelet agonist
... diagnosis of inherited deficiencies of platelet surface glycoproteins, diagnosis of storage pool disease, diagnosis of heparin- ... circulating activated platelets, platelet-platelet aggregates, leukocyte-platelet aggregates, procoagulant platelet-derived ... Platelet Activation. Platelet Glycoprotein GPIIb-IIIa Complex. Platelet Glycoprotein GPIb-IX Complex. Signal Transduction. ... Circulating monocyte-platelet aggregates appear to be a more sensitive marker of in vivo platelet activation than circulating P ...
WillebrandDefectsThrombocytopeniaDysfunctionCongenitalAdhesionSecretionAdenosine diphosphateFibrinogenDisorderAlpha-granulesGranulesDefectFlow cytometryDiseaseActivationResults of plateletAbnormalities in plateletNegatively charged phospholipidsHemostasisReceptorHuman plateletNormal plateletInclude plateletCollagenActin filamentsGlanzmann's ThrombastheniaFunctionalAggregation testsMembraneCoagulation factorsProstaglandin SynthesisLeukocyteTransfusionMegakaryocytesSevereDiagnosis of iron deficiencyPeripheralAntithrombin DeficiencyFunctionFibrin meshSyndromeClinicalFactorDense bodiesClumpAgonistProtein C DeficienSmear
Willebrand11
- Platelets play a primary role in this process, interacting with subendothelium-bound von Willebrand factor (vWf) via the membrane glycoprotein (GP) Ib complex. (medscape.com)
- The workup of a patient with a platelet-type bleeding pattern typically includes correlation with platelet count ( thrombocytopenia ), evaluation of platelet morphology on peripheral smear, exclusion of acquired causes of platelet dysfunction, and testing for von Willebrand disease (VWD) . (arupconsult.com)
- Von Willebrand disease and hemorrhagic abnormalities of platelet and vascular function. (medlineplus.gov)
- A very rare disorder in which a person's platelets do not have enough of the receptor (glycoprotein Tb/TX) needed to bind von Willebrand factor. (curegt.org)
- A medicine used to treat some factor deficiencies and von Willebrand disease. (curegt.org)
- Evaluating hereditary bleeding in patients with a personal or family history suggestive of a hereditary bleeding disorder and initial laboratory testing results are suggestive for factors VII, VIII, IX, or XI deficiency, or a von Willebrand disease. (mayocliniclabs.com)
- Platelet adhesion (ie, of platelets to exposed vascular subendothelium) requires von Willebrand factor (VWF) and the platelet glycoprotein Ib/IX complex. (msdmanuals.com)
- The common conditions associated with menorrhagia include von Willebrand disease (VWD), platelet function disorders and coagulation factor deficiencies. (org.pk)
- 3 Among the platelet dysfunction, the commonest disorder is decreased aggregation response to ristocetin, in the presence of normal VWF:RCo and VWF(von willebrand factor). (org.pk)
- Disorders of platelet adhesion include Von Willebrand disease, Bernard-Soulier Syndrome (BSS) and Collagen receptor defects. (org.pk)
- The bleeding disorder community includes people living with von Willebrand disease (VWD) , hemophilia , platelet disorders, and other rare bleeding disorders (called rare factor deficiencies). (cdc.gov)
Defects11
- Platelet storage pool deficiency is a type of coagulopathy characterized by defects in the granules in platelets, particularly a lack of granular non-metabolic adenosine diphosphate. (wikipedia.org)
- Early onset disease may sometimes be associated with platelet-storage defects. (medscape.com)
- Platelet disorders lead to defects in primary hemostasis and produce signs and symptoms different from coagulation factor deficiencies (disorders of secondary hemostasis). (medscape.com)
- Congenital platelet function defects are conditions that prevent clotting elements in the blood, called platelets, from working as they should. (medlineplus.gov)
- Congenital platelet function defects are bleeding disorders that cause reduced platelet function. (medlineplus.gov)
- Chediak-Higashi syndrome and Hermansky-Pudlak syndrome also manifest with extrapigmentary defects consisting of leukocyte, platelet, pneumocyte, and reticular cell dysfunction. (medscape.com)
- HPS is an autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. (lu.se)
- This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. (lu.se)
- Hereditary intrinsic platelet disorders can involve defects in any of these substrates and steps. (msdmanuals.com)
- 1 Among the inherited bleeding disorders, Platelet function defects are also an important cause of menorrhagia. (org.pk)
- Purpura that are palpable suggest capillary leak from vasculitis, whereas purpura associated with thrombocytopenia or qualitative platelet defects are generally not elevated and cannot be distinguished by touch. (vdocuments.net)
Thrombocytopenia4
- Electron microscopy of platelets differentiates GPS from the autosomal dominant variant and from the X-linked variant described as X-linked thrombocytopenia with thalassemia, caused by mutations in GATA1 gene (see this term). (orpha.net)
- Flow cytometry can also be used in the following clinical settings: monitoring of GPIIb-IIIa antagonist therapy, diagnosis of inherited deficiencies of platelet surface glycoproteins, diagnosis of storage pool disease, diagnosis of heparin-induced thrombocytopenia, and measurement of the rate of thrombopoiesis. (umassmed.edu)
- Eight units of packed red cells and 4 units of platelets were transfused for correction of anaemia and thrombocytopenia. (org.pk)
- 1. Chen S, Cooper N, Müller M, Bein G, Sachs UJ (2020) Piperacillin-dependent anti-platelet antibodies are a relevant, easy to confirm differential diagnosis in patients with rapid-onset thrombocytopenia. (uni-giessen.de)
Dysfunction4
- Dysfunction or low levels of platelets predisposes to bleeding , while high levels, although usually asymptomatic, may increase the risk of thrombosis . (wikidoc.org)
- How platelets work: platelet function and dysfunction. (umassmed.edu)
- Studies from West have also found an increased incidence of platelet dysfunction in Black women, compared to Caucasians. (org.pk)
- However, when obesity and inflammation are sustained, these adaptive homeostatic mechanisms fail, leading to WAT dysfunction characterised by impaired secretion of adipokines, abnormal lipid storage and adipogenesis, exacerbated fibrosis deposition and insulin resistance. (springer.com)
Congenital5
- There is no cure for congenital platelet function disorders. (medlineplus.gov)
- The rare forms of congenital thrombophilia are typically caused by a deficiency of natural anticoagulants. (ipfs.io)
- [12] Congenital deficiency of plasminogen , for instance, mainly causes eye symptoms and sometimes problems in other organs, but the link with thrombosis has been more uncertain. (ipfs.io)
- Recurrent miscarriage may be a feature of some congenital factor (eg, factor XIII) and fibrinogen deficiencies. (medscape.com)
- a broad range of disorders for which transplantion of HPCs from an adult donor is also successful, including hematological malignancies, solid tumors, constitutional and acquired bone marrow failure syndromes, hemoglobinopathies, congenital immune deficiencies, and inherited disorders of metabolism (Gluckman et al. (nationalacademies.org)
Adhesion7
- This initial interaction (platelet adhesion) sets the stage for other adhesive reactions that allow the platelets to interact with other agonists in the vicinity of vessel injury, such as adenosine 5'-diphosphate (ADP), subendothelial collagen, and thrombin. (medscape.com)
- The body's reaction to vessel wall injury is rapid adhesion of platelets to the subendothelium. (medscape.com)
- Functional platelet disorders affect the adhesion, activation, or aggregation of platelets and are frequently associated with excessive bleeding, often following trauma or surgery. (arupconsult.com)
- Bernard-Soulier syndrome (an adhesion disorder) and Glanzmann thrombasthenia (an aggregation disorder) are among the most well-recognized inherited disorders of platelet function and are severe clinical conditions. (arupconsult.com)
- The platelets adhere to each other via adhesion receptors or integrins , and to the endothelial cells in the wall of the blood vessel forming a haemostatic plug in conjunction with fibrin . (wikidoc.org)
- It impairs platelet adhesion via a defect in the glycoprotein Ib/IX complex that binds endothelial VWF. (msdmanuals.com)
- The epub stretches the formation page thought with " megakaryocytes, avoiding this platelet with the correct adhesion. (scrivendi.de)
Secretion4
- Platelet storage pool disorder (also called platelet secretion disorder) occurs when substances called granules inside platelets aren't stored or released properly. (medlineplus.gov)
- M, Gresele P. Expert opinion on the use of platelet secretion assay for the diagnosis of inherited platelet function disorders: Communication from the ISTH SSC Subcommittee on Platelet Physiology. (umassmed.edu)
- Mumford AD, Frelinger AL, Gachet C, Gresele P, Noris P, Harrison P, Mezzano D. A review of platelet secretion assays for the diagnosis of inherited platelet secretion disorders. (umassmed.edu)
- Disorders of platelet secretion include Platelet Storage Pool Deficiencies and include Gray Platelet syndrome, delta storage pool deficiency and alpha-delta storage pool deficiency. (org.pk)
Adenosine diphosphate5
- Individuals with adenosine diphosphate deficient storage pool disease present a prolonged bleeding time due to impaired aggregation response to fibrillar collagen. (wikipedia.org)
- Ac.Cr inhibited platelet aggregation induced by arachidonic acid (AA), adenosine diphosphate (ADP), platelet-activating factor (PAF), epinephrine and Ca 2+ -ionophore. (jcimjournal.com)
- Effects of betel nut crude and pure compounds on human platelet aggregation Concentration-response curves show the inhibitory effect of (A) betel nut 70% aqueous-methanolic extract and (B) (+)-catechin, against platelet aggregation induced by agonists such as arachidonic acid (AA, 1.7 mmol/L), adenosine diphosphate (ADP, 4.3 μmol/L), platelet-activating factor (PAF, 8 nmol/L), epinephrine (20 μmol/L) and Ca2+-ionophore (10 μmol/L) in human venous blood. (jcimjournal.com)
- Activation involves release of adenosine diphosphate (ADP) from platelet storage granules and conversion of arachidonic acid to thromboxane A2 via a cyclooxygenase-mediated reaction. (msdmanuals.com)
- Platelet function tests showed a decreased response to adenosine diphosphate (ADP), collagen, ristocetin and epinephrine - induced aggregation. (org.pk)
Fibrinogen4
- On resting platelets, GP IIb/IIIa is unable to bind fibrinogen or vWf. (medscape.com)
- The alpha granules contain hemostatic proteins such as fibrinogen, vWf, and growth factors (eg, platelet-derived growth factor and transforming growth factors). (medscape.com)
- Platelet activation promotes platelet aggregation and fibrinogen binding and requires the platelet glycoprotein IIb/IIIa complex. (msdmanuals.com)
- Additionally, ADP (and thromboxane A2) then promotes changes in the platelet glycoprotein IIb/IIIa complex, which in turn increases fibrinogen binding, thereby allowing platelets to aggregate. (msdmanuals.com)
Disorder14
- 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)
- Absence or marked reduction of alpha-granules in platelets underlie the disorder. (orpha.net)
- It is important to rule out acquired conditions during an evaluation for a functional platelet disorder. (arupconsult.com)
- Laboratory testing for functional platelet disorders is appropriate in individuals with bleeding manifestations that suggest a functional platelet disorder (eg, easy bruising, prolonged bleeding following dental work or surgery, menorrhagia), particularly those with a family history of a bleeding disorder and in whom VWD has been previously excluded. (arupconsult.com)
- Initial laboratory testing for a functional platelet disorder includes a CBC with platelet count and a peripheral smear. (arupconsult.com)
- Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored. (bvsalud.org)
- An autosomal recessive characteristic or a coagulation disorder acquired in association with VITAMIN K DEFICIENCY. (umassmed.edu)
- The majority of studies, which have been conducted in the West, report VWD, as the most common inherited bleeding disorder leading to menorrhagia, whereas studies from South-East Asia have found platelet function disorder as the leading inherited bleeding disorder in women with menorrhagia. (org.pk)
- 4 Pakistan has a strong tradition of consanguineous marriages, so it is assumed that the incidence of platelet disorder will be higher. (org.pk)
- We describe here three cases of adolescent menorrhagia due to platelet function disorder. (org.pk)
- Factor V deficiency is a rare autosomal recessive bleeding disorder with variable phenotypic expression (summary by van Wijk et al. (nih.gov)
- Protein C deficiency may cause purpura fulminans , a severe clotting disorder in the newborn that leads to both tissue death and bleeding into the skin and other organs. (ipfs.io)
- When Chelsee was 7 years old, she was diagnosed with platelet storage pool disorder, a condition where parts of platelets (blood cells that help the blood form clots) are absent, reduced, or unable to enter the blood stream, impacting the platelets to form clots and stop a bleed. (cdc.gov)
- Hemophilia A is an X-linked, recessive disorder caused by deficiency of functional plasma clotting factor VIII (FVIII), which may be inherited or arise from spontaneous mutation. (medscape.com)
Alpha-granules4
- The diagnosis of this condition can be done via the following: Flow cytometry Bleeding time analysis Platelet aggregation function study: This condition may involve the alpha granules or the dense granules. (wikipedia.org)
- Alpha-granules are the most abundant vesicles in platelets and store proteins that promote platelet adhesiveness and wound healing when secreted during platelet activation. (orpha.net)
- Platelets contain two unique types of granules: alpha granules and dense granules. (medscape.com)
- A type of Storage Pool Disease in which the alpha granules inside a platelet are missing. (curegt.org)
Granules4
- Platelet α-granules have an important role in hemostasis as well as thrombosis. (wikipedia.org)
- Granules help platelets function properly. (medlineplus.gov)
- A type of Storage Pool Disease in which the platelets have few or no alpha and delta (also called dense) granules. (curegt.org)
- The contents of the granules are released upon activation of the platelet. (wikidoc.org)
Defect4
- We studied the defect responsible for deficiency of the b subunit for factor XIII in the first known case of this condition. (embl.de)
- A blood test can detect the gene responsible for the platelet defect. (medlineplus.gov)
- She was diagnosed as a case of combined platelet storage pool defect with Bernard-Soulier syndrome. (org.pk)
- polycythemia, qualitative platelet defect)5. (vdocuments.net)
Flow cytometry4
- further testing may include platelet aggregation tests, platelet flow cytometry, and in some cases, genetic testing. (arupconsult.com)
- Application of flow cytometry to platelet disorders. (umassmed.edu)
- Platelet function in whole blood can be comprehensively evaluated by flow cytometry. (umassmed.edu)
- Flow cytometry can be used to measure platelet reactivity, circulating activated platelets, platelet-platelet aggregates, leukocyte-platelet aggregates, procoagulant platelet-derived microparticles, and calcium flux. (umassmed.edu)
Disease4
- They also develop a ceroid storage disease in which a ceroid-lipofuscin material accumulates in various organ systems, resulting in pulmonary fibrosis, granulomatous colitis, gingivitis, kidney failure, and cardiomyopathy. (medscape.com)
- Clinical applications of whole blood flow cytometric assays of platelet function in disease states (e.g., acute coronary syndromes, angioplasty, and stroke) may include identification of patients who would benefit from additional antiplatelet therapy and prediction of ischemic events. (umassmed.edu)
- A 78-year-old man with homozygous factor XI deficiency and an extensive medical history, including coronary artery disease, congestive heart failure, diabetes, and chronic kidney disease, was admitted in April 2017 for transurethral resection of the bladder as the result of a urologic malignancy. (cdc.gov)
- It is primarily used for replacement therapy in primary antibody-deficiency disorders, for the treatment of Kawasaki disease, immune thrombocytopenic purpura, hypogammaglobulinemia in chronic lymphocytic leukemia, and some cases of HIV infection. (cdc.gov)
Activation7
- Stehbens and Biscoe, 1967 ), platelet shape change was, and still is, generally regarded to be the initial stage of platelet activation. (nature.com)
- Platelet activation allows binding of these proteins, which bridges adjacent platelets. (medscape.com)
- Platelet activation pathways. (medscape.com)
- Platelet activation further results in the scramblase -mediated transport of negatively charged phospholipids to the platelet surface. (wikidoc.org)
- Platelet aggregation is stimulated by thromboxane and α2 receptor -activation, but inhibited by other inflammatory products like PGI2 and PGD2 . (wikidoc.org)
- TR1-41-induced platelet activation was synergistic with TR42-55. (umassmed.edu)
- Circulating monocyte-platelet aggregates appear to be a more sensitive marker of in vivo platelet activation than circulating P-selectin-positive platelets. (umassmed.edu)
Results of platelet1
- Bleeding times were prolonged in five of eight patients, and results of platelet function studies were abnormal in five individuals. (utmb.edu)
Abnormalities in platelet2
- Severe abnormalities in platelet function, such as Bernard-Soulier syndrome, Glanzmann's thrombasthenia, or platelet storage-pool deficiency, are characterized by the inability of platelets to aggregate in response to certain agonists. (nature.com)
- Disorders caused by abnormalities in platelet count or function. (umassmed.edu)
Negatively charged phospholipids1
- In addition, when platelets are activated, negatively charged phospholipids move from the inner to the outer leaflet of the membrane bilayer. (medscape.com)
Hemostasis2
- The initial hemostatic plug, composed primarily of platelets, is stabilized further by a fibrin mesh generated in secondary hemostasis. (medscape.com)
- Platelets , or thrombocytes , are the cells circulating in the blood that are involved in the cellular mechanisms of primary hemostasis leading to the formation of blood clots . (wikidoc.org)
Receptor3
- Platelets were activated with ADP, thrombin, or the thrombin receptor agonist peptide SFLLRN (TRAP 1-6 ). (nature.com)
- A chemical substance that binds to a specific receptor on a platelet and triggers a reaction. (curegt.org)
- The released ADP acts on the P2Y12 receptor on other platelets, thereby activating them and recruiting them to the site of injury. (msdmanuals.com)
Human platelet2
- Antiplatelet activity was measured in human platelet-rich plasma by using a Lumi-aggregometer while anti-AChE activity was measured spectrophotometrically in vitro. (jcimjournal.com)
- 3. Holzwarth ST, Strobel J, Cooper N, Leyh J, Bayat B, Bein G, Zingsem J, Sachs UJ (2020) A point mutation c.473A G of ITGB3 is responsible for the formation of the Woa human platelet alloantigen. (uni-giessen.de)
Normal platelet2
- A normal platelet count in a healthy person is between 150,000 and 400,000 per mm³ of blood (150-400 x 10 9 / L ). 95% of healthy people will have platelet counts in this range. (wikidoc.org)
- These disorders are suspected in patients with lifelong bleeding disorders who have normal platelet counts and coagulation study results. (msdmanuals.com)
Include platelet1
- The initial laboratory test should include platelet count, peripheral blood smear, Prothrombin time and activated partial thromboplastin time. (org.pk)
Collagen2
- Platelets are activated when brought into contact with collagen (which is exposed when the endothelial blood vessel lining is damaged), thrombin (primarily through PAR -1), ADP receptors (P2Y1 and P2Y12) expressed on platelets, a negatively charged surface (e.g. glass), or several other activating factors. (wikidoc.org)
- Platelet aggregation tests assess the ability of platelets to clump in response to the addition of various activators (eg, collagen, epinephrine , ADP, ristocetin). (msdmanuals.com)
Actin filaments1
- The high concentration of myosin and actin filaments in platelets are stimulated to contract during aggregation, further reinforcing the plug. (wikidoc.org)
Glanzmann's Thrombasthenia1
- The Bleeding Disorders Association of South Carolina's "Ultra Rare Bleeding Disorders Support" exists to support and empower individuals and their families who are diagnosed or affected by rare bleeding disorders, such as Glanzmann's Thrombasthenia, Bernard-Soulier Syndrome, platelet disorders and rare factor deficiencies. (bda-sc.org)
Functional9
- this method is widely used to assess the functional status of platelets. (nature.com)
- How do functional platelet disorders manifest clinically? (arupconsult.com)
- The clinical features of functional platelet disorders vary. (arupconsult.com)
- rarely, it may be observed in functional platelet disorders). (arupconsult.com)
- Functional platelet disorders are generally associated with immediate bleeding in response to surgery or trauma, whereas factor deficiencies are associated with delayed bleeding. (arupconsult.com)
- What are some causes of acquired functional platelet disorders? (arupconsult.com)
- Which functional platelet disorders are inherited? (arupconsult.com)
- Refer to the table, Laboratory Findings in Selected Inherited Functional Platelet Disorders , for additional information and a more comprehensive list of inherited functional platelet disorders. (arupconsult.com)
- Excessive bleeding in patients with glycogenoses la and lb are similar and may be secondary to the functional deficiency of glucose-6-phosphatase. (utmb.edu)
Aggregation tests1
- Diagnosis is confirmed by platelet aggregation tests. (msdmanuals.com)
Membrane1
- BACKGROUND: Studies have been performed on human fresh, liquid-preserved, and cryopreserved platelets (PLTs) to assess PLT-adhesive surface receptors, PLT membrane procoagulant activity, PLT aggregation, and thromboxane production. (umassmed.edu)
Coagulation factors4
- The hemostatic system consists of platelets, coagulation factors, and the endothelial cells lining the blood vessels. (medscape.com)
- Under physiological circumstances, the resistance of the endothelial cell lining to interactions with platelets and coagulation factors prevents thrombosis. (medscape.com)
- Once activated, they release a number of different coagulation factors and platelet activating factors. (wikidoc.org)
- Majority of the hemostatic disorders are caused by disruption of the normal interaction between the VASCULAR ENDOTHELIUM, the plasma proteins (including BLOOD COAGULATION FACTORS), and PLATELETS. (bvsalud.org)
Prostaglandin Synthesis1
- Thus, the release reaction and prostaglandin synthesis act to consolidate the initial hemostatic plug by promoting the participation of other platelets in the growing hemostatic plug. (medscape.com)
Leukocyte1
- Laboratory investigations included the following: haemoglobin 6.0 gm/dl, total leukocyte count 6.900/mm and platelet count 17,000. (org.pk)
Transfusion1
- Platelet transfusion is usually necessary to control serious bleeding. (msdmanuals.com)
Megakaryocytes3
- The platelets arise from the fragmentation of the cytoplasm of megakaryocytes in the bone marrow and circulate in blood as disc-shaped anucleate particles for 7-10 days. (medscape.com)
- Platelets are produced in hematopoiesis by budding off from megakaryocytes . (wikidoc.org)
- Thrombopoietin helps control the number of circulating platelets by stimulating the bone marrow to produce megakaryocytes. (msdmanuals.com)
Severe1
- negative Platelets allow a severe epub Производственная of strong GPs developing oil, website, cold supply, running, recent aggregation, and interested important creative years new in the assumptions and products. (scrivendi.de)
Diagnosis of iron deficiency1
- Aiding in the diagnosis of iron deficiency and iron overload conditions. (mayocliniclabs.com)
Peripheral4
- Peripheral smears show typical large, pale gray platelets. (orpha.net)
- Sixteen of 21 patients exhibited chronic neutropenia associated with abnormalities In myelold maturation and decreases in the bone marrow storage and peripheral marginating pools. (utmb.edu)
- Her peripheral blood smear showed large platelets. (org.pk)
- White adipose tissue (WAT) plays a key homeostatic role, not only by ensuring efficient energy storage but also by its quick mobilisation (lipids) to ensure peripheral demands. (springer.com)
Antithrombin Deficiency1
- [2] The first major form of thrombophilia, antithrombin deficiency , was identified in 1965, while the most common abnormalities (including factor V Leiden ) were described in the 1990s. (ipfs.io)
Function6
- The platelet function is abnormal due to a deficiency of storage pool adenine nucleotides. (karger.com)
- aspirin and nonsteroidal anti-inflammatory drugs (NSAIDs) are common causes of abnormal platelet function, and platelet function testing may need to be deferred if patients have been taking these medications. (arupconsult.com)
- Storage spaces inside platelets that hold chemicals that are necessary for platelets to function normally. (curegt.org)
- Загальні відомості про захворювання тромбоцитів Platelets are circulating cell fragments that function in the clotting system. (msdmanuals.com)
- We report here three cases of adolescent menorrhagia due to platelet function disorders, along with review of literature. (org.pk)
- Genetic Heterogeneity of Platelet-Type Bleeding Disorders Inherited platelet disorders are a heterogeneous group of bleeding disorders affecting platelet number, function, or both. (nih.gov)
Fibrin mesh1
- The jelly-like mass that results when blood platelets and fibrin mesh to seal a leaking blood vessel. (curegt.org)
Syndrome4
- Bernard-Soulier syndrome occurs when platelets lack a substance that sticks to the walls of blood vessels. (medlineplus.gov)
- Also called Gray Platelet Syndrome. (curegt.org)
- Individuals with Hermansky-Pudlak syndrome manifest a bleeding diathesis resulting from a platelet storage pool deficiency. (medscape.com)
- 1. AIDS: Acquired immune deficiency syndrome Acquired immunodeficiency syndrome 2. (cdc.gov)
Clinical3
- Platelets in Hematologic and Cardiovascular Disorders: A Clinical Handbook. (wikipedia.org)
- Platelet aggregometry is a standard clinical technique that measures the in vitro aggregability of platelets in response to agonists by using the amount of light transmitted through platelet-rich plasma (PRP) ( Holmsen, 1987 ). (nature.com)
- Clinical Cytometry for Platelets and Platelet Disorders. (umassmed.edu)
Factor10
- A missense mutation in seventh CCP domain causes deficiency of the b subunit of factor XIII. (embl.de)
- Molecular and cellular basis of deficiency of the b subunit for factor XIII secondary to a Cys430-Phe mutation in the seventh Sushi domain. (embl.de)
- It also secretes e.g. platelet-derived growth factor (PDGF). (wikidoc.org)
- Evaluating factor VII deficiency (FVIID) in patients with a personal or family history suggestive of FVIID. (mayocliniclabs.com)
- Factor VII Deficiency" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (umassmed.edu)
- This graph shows the total number of publications written about "Factor VII Deficiency" by people in this website by year, and whether "Factor VII Deficiency" was a major or minor topic of these publications. (umassmed.edu)
- Below are the most recent publications written about "Factor VII Deficiency" by people in Profiles. (umassmed.edu)
- During this special Factor X Day event, you will have a chance to connect with others who also have Factor X Deficiency and meet members of their support network. (bda-sc.org)
- This celebration is for individuals with Factor X Deficiency and their Support Network. (bda-sc.org)
- Check out the information that they provide on factor deficiencies. (bda-sc.org)
Dense bodies1
- dense bodies and other platelet organelles and polymorphonuclear leukocytes are normal on EM. (orpha.net)
Clump1
- Glanzmann thrombasthenia is a condition caused by the lack of a protein needed for platelets to clump together. (medlineplus.gov)
Agonist2
- In this study, we demonstrate that the 41-aa cleaved peptide, TR1-41 (MGPRRLLLVAACFSLCGPLLSARTRARRPESKATNATLDPR) is a strong platelet agonist. (umassmed.edu)
- In summary, the cleaved peptide of the seven-transmembrane domain TR (TR1-41) is a strong platelet agonist. (umassmed.edu)
Protein C Deficien1
- [12] The main ones are antithrombin III deficiency, protein C deficiency and protein S deficiency . (ipfs.io)
Smear1
- Human blood smear: platelets. (wikidoc.org)