Thrombocythemia, Essential
Polycythemia Vera
Janus Kinase 2
Bone and Bones
Myeloproliferative Disorders
Primary Myelofibrosis
Receptors, Thrombopoietin
Bone Remodeling
Bone Marrow
Bone Density
Thrombopoietin
Carbazilquinone
Hydroxyurea
Bone Marrow Cells
Bone Development
Granulocytes
Mutation, Missense
Thrombopoiesis
Bone Regeneration
Blood Platelets
Mutation
Anemia, Refractory
Bone Matrix
Thrombophilia
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
Amino Acid Substitution
Bone Marrow Transplantation
Pregnancy Complications, Hematologic
Platelet Aggregation Inhibitors
World Health Organization
GPI-Linked Proteins
Bone Substitutes
Hemangioma, Cavernous
Bone Diseases, Metabolic
Receptors, Cytokine
Quinazolines
Isoantigens
Bone Morphogenetic Proteins
Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN), a type of blood cancer characterized by the overproduction of platelets (thrombocytosis) in the bone marrow. In ET, there is an excessive proliferation of megakaryocytes, the precursor cells that produce platelets. This leads to increased platelet counts in the peripheral blood, which can increase the risk of blood clots (thrombosis) and bleeding episodes (hemorrhage).
The term "essential" is used to indicate that the cause of this condition is not known or idiopathic. ET is primarily a disease of older adults, but it can also occur in younger individuals. The diagnosis of essential thrombocythemia requires careful evaluation and exclusion of secondary causes of thrombocytosis, such as reactive conditions, inflammation, or other myeloproliferative neoplasms.
The clinical presentation of ET can vary widely among patients. Some individuals may be asymptomatic and discovered only during routine blood tests, while others may experience symptoms related to thrombosis or bleeding. Common symptoms include headaches, visual disturbances, dizziness, weakness, numbness, or tingling in the extremities, if there are complications due to blood clots in the brain or other parts of the body. Excessive bruising, nosebleeds, or blood in the stool can indicate bleeding complications.
Treatment for essential thrombocythemia is aimed at reducing the risk of thrombosis and managing symptoms. Hydroxyurea is a commonly used medication to lower platelet counts, while aspirin may be prescribed to decrease the risk of blood clots. In some cases, interferon-alpha or ruxolitinib might be considered as treatment options. Regular follow-up with a hematologist and monitoring of blood counts are essential for managing this condition and detecting potential complications early.
Polycythemia Vera is a type of myeloproliferative neoplasm, a group of rare blood cancers. In Polycythemia Vera, the body produces too many red blood cells, leading to an increased risk of blood clots and thickening of the blood, which can cause various symptoms such as fatigue, headache, dizziness, and itching. It can also lead to enlargement of the spleen. The exact cause of Polycythemia Vera is not known, but it is associated with genetic mutations in the JAK2 gene in most cases. It is a progressive disease that can lead to complications such as bleeding, thrombosis, and transformation into acute leukemia if left untreated.
Thrombocytosis is a medical condition characterized by an abnormally high platelet count (also known as thrombocytes) in the blood. Platelets are small cell fragments that play a crucial role in blood clotting. A normal platelet count ranges from 150,000 to 450,000 platelets per microliter of blood. Thrombocytosis is typically defined as a platelet count exceeding 450,000-500,000 platelets/µL.
Thrombocytosis can be classified into two types: reactive (or secondary) thrombocytosis and primary (or essential) thrombocytosis. Reactive thrombocytosis is more common and occurs as a response to an underlying condition, such as infection, inflammation, surgery, or certain types of cancer. Primary thrombocytosis, on the other hand, is caused by intrinsic abnormalities in the bone marrow cells responsible for platelet production (megakaryocytes), and it is often associated with myeloproliferative neoplasms like essential thrombocythemia.
While mild thrombocytosis may not cause any symptoms, higher platelet counts can increase the risk of blood clots (thrombosis) and bleeding disorders due to excessive platelet aggregation. Symptoms of thrombocytosis may include headaches, dizziness, visual disturbances, or chest pain if a blood clot forms in the brain or heart. Bleeding symptoms can manifest as easy bruising, nosebleeds, or gastrointestinal bleeding.
Treatment for thrombocytosis depends on the underlying cause and the severity of the condition. In cases of reactive thrombocytosis, treating the underlying disorder often resolves the high platelet count. For primary thrombocytosis, medications like aspirin or cytoreductive therapy (such as hydroxyurea) may be used to reduce the risk of blood clots and control platelet production. Regular monitoring of platelet counts is essential for managing this condition and preventing potential complications.
Janus Kinase 2 (JAK2) is a tyrosine kinase enzyme that plays a crucial role in intracellular signal transduction. It is named after the Roman god Janus, who is depicted with two faces, as JAK2 has two similar phosphate-transferring domains. JAK2 is involved in various cytokine receptor-mediated signaling pathways and contributes to hematopoiesis, immune function, and cell growth.
Mutations in the JAK2 gene have been associated with several myeloproliferative neoplasms (MPNs), including polycythemia vera, essential thrombocythemia, and primary myelofibrosis. The most common mutation is JAK2 V617F, which results in a constitutively active enzyme that promotes uncontrolled cell proliferation and survival, contributing to the development of these MPNs.
"Bone" is the hard, dense connective tissue that makes up the skeleton of vertebrate animals. It provides support and protection for the body's internal organs, and serves as a attachment site for muscles, tendons, and ligaments. Bone is composed of cells called osteoblasts and osteoclasts, which are responsible for bone formation and resorption, respectively, and an extracellular matrix made up of collagen fibers and mineral crystals.
Bones can be classified into two main types: compact bone and spongy bone. Compact bone is dense and hard, and makes up the outer layer of all bones and the shafts of long bones. Spongy bone is less dense and contains large spaces, and makes up the ends of long bones and the interior of flat and irregular bones.
The human body has 206 bones in total. They can be further classified into five categories based on their shape: long bones, short bones, flat bones, irregular bones, and sesamoid bones.
Myeloproliferative disorders (MPDs) are a group of rare, chronic blood cancers that originate from the abnormal proliferation or growth of one or more types of blood-forming cells in the bone marrow. These disorders result in an overproduction of mature but dysfunctional blood cells, which can lead to serious complications such as blood clots, bleeding, and organ damage.
There are several subtypes of MPDs, including:
1. Chronic Myeloid Leukemia (CML): A disorder characterized by the overproduction of mature granulocytes (a type of white blood cell) in the bone marrow, leading to an increased number of these cells in the blood. CML is caused by a genetic mutation that results in the formation of the BCR-ABL fusion protein, which drives uncontrolled cell growth and division.
2. Polycythemia Vera (PV): A disorder characterized by the overproduction of all three types of blood cells - red blood cells, white blood cells, and platelets - in the bone marrow. This can lead to an increased risk of blood clots, bleeding, and enlargement of the spleen.
3. Essential Thrombocythemia (ET): A disorder characterized by the overproduction of platelets in the bone marrow, leading to an increased risk of blood clots and bleeding.
4. Primary Myelofibrosis (PMF): A disorder characterized by the replacement of normal bone marrow tissue with scar tissue, leading to impaired blood cell production and anemia, enlargement of the spleen, and increased risk of infections and bleeding.
5. Chronic Neutrophilic Leukemia (CNL): A rare disorder characterized by the overproduction of neutrophils (a type of white blood cell) in the bone marrow, leading to an increased number of these cells in the blood. CNL can lead to an increased risk of infections and organ damage.
MPDs are typically treated with a combination of therapies, including chemotherapy, targeted therapy, immunotherapy, and stem cell transplantation. The choice of treatment depends on several factors, including the subtype of MPD, the patient's age and overall health, and the presence of any comorbidities.
Primary myelofibrosis (PMF) is a rare, chronic bone marrow disorder characterized by the replacement of normal bone marrow tissue with fibrous scar tissue, leading to impaired production of blood cells. This results in cytopenias (anemia, leukopenia, thrombocytopenia), which can cause fatigue, infection susceptibility, and bleeding tendencies. Additionally, PMF is often accompanied by the proliferation of abnormal megakaryocytes (large, atypical bone marrow cells that produce platelets) and extramedullary hematopoiesis (blood cell formation outside the bone marrow, typically in the spleen and liver).
PMF is a type of myeloproliferative neoplasm (MPN), which is a group of clonal stem cell disorders characterized by excessive proliferation of one or more types of blood cells. PMF can present with various symptoms such as fatigue, weight loss, night sweats, abdominal discomfort due to splenomegaly (enlarged spleen), and bone pain. In some cases, PMF may progress to acute myeloid leukemia (AML).
The exact cause of PMF remains unclear; however, genetic mutations are known to play a significant role in its development. The Janus kinase 2 (JAK2), calreticulin (CALR), and MPL genes have been identified as commonly mutated in PMF patients. These genetic alterations contribute to the dysregulated production of blood cells and the activation of signaling pathways that promote fibrosis.
Diagnosis of PMF typically involves a combination of clinical evaluation, complete blood count (CBC), bone marrow aspiration and biopsy, cytogenetic analysis, and molecular testing to identify genetic mutations. Treatment options depend on the individual patient's symptoms, risk stratification, and disease progression. They may include observation, supportive care, medications to manage symptoms and control the disease (such as JAK inhibitors), and stem cell transplantation for eligible patients.
Thrombopoietin receptors are a type of cell surface receptor found on megakaryocytes and platelets. They are also known as MPL (myeloproliferative leukemia virus) receptors. Thrombopoietin is a hormone that regulates the production of platelets in the body, and it binds to these receptors to stimulate the proliferation and differentiation of megakaryocytes, which are large bone marrow cells that produce platelets.
The thrombopoietin receptor is a type I transmembrane protein with an extracellular domain that contains the thrombopoietin-binding site, a single transmembrane domain, and an intracellular domain that contains several tyrosine residues that become phosphorylated upon thrombopoietin binding. This triggers a signaling cascade that leads to the activation of various downstream pathways involved in cell proliferation, differentiation, and survival.
Mutations in the thrombopoietin receptor gene have been associated with certain myeloproliferative neoplasms, such as essential thrombocythemia and primary myelofibrosis, which are characterized by excessive platelet production and bone marrow fibrosis.
Bone remodeling is the normal and continuous process by which bone tissue is removed from the skeleton (a process called resorption) and new bone tissue is formed (a process called formation). This ongoing cycle allows bones to repair microdamage, adjust their size and shape in response to mechanical stress, and maintain mineral homeostasis. The cells responsible for bone resorption are osteoclasts, while the cells responsible for bone formation are osteoblasts. These two cell types work together to maintain the structural integrity and health of bones throughout an individual's life.
During bone remodeling, the process can be divided into several stages:
1. Activation: The initiation of bone remodeling is triggered by various factors such as microdamage, hormonal changes, or mechanical stress. This leads to the recruitment and activation of osteoclast precursor cells.
2. Resorption: Osteoclasts attach to the bone surface and create a sealed compartment called a resorption lacuna. They then secrete acid and enzymes that dissolve and digest the mineralized matrix, creating pits or cavities on the bone surface. This process helps remove old or damaged bone tissue and releases calcium and phosphate ions into the bloodstream.
3. Reversal: After resorption is complete, the osteoclasts undergo apoptosis (programmed cell death), and mononuclear cells called reversal cells appear on the resorbed surface. These cells prepare the bone surface for the next stage by cleaning up debris and releasing signals that attract osteoblast precursors.
4. Formation: Osteoblasts, derived from mesenchymal stem cells, migrate to the resorbed surface and begin producing a new organic matrix called osteoid. As the osteoid mineralizes, it forms a hard, calcified structure that gradually replaces the resorbed bone tissue. The osteoblasts may become embedded within this newly formed bone as they differentiate into osteocytes, which are mature bone cells responsible for maintaining bone homeostasis and responding to mechanical stress.
5. Mineralization: Over time, the newly formed bone continues to mineralize, becoming stronger and more dense. This process helps maintain the structural integrity of the skeleton and ensures adequate calcium storage.
Throughout this continuous cycle of bone remodeling, hormones, growth factors, and mechanical stress play crucial roles in regulating the balance between resorption and formation. Disruptions to this delicate equilibrium can lead to various bone diseases, such as osteoporosis, where excessive resorption results in weakened bones and increased fracture risk.
A platelet count is a laboratory test that measures the number of platelets, also known as thrombocytes, in a sample of blood. Platelets are small, colorless cell fragments that circulate in the blood and play a crucial role in blood clotting. They help to stop bleeding by sticking together to form a plug at the site of an injured blood vessel.
A normal platelet count ranges from 150,000 to 450,000 platelets per microliter (µL) of blood. A lower than normal platelet count is called thrombocytopenia, while a higher than normal platelet count is known as thrombocytosis.
Abnormal platelet counts can be a sign of various medical conditions, including bleeding disorders, infections, certain medications, and some types of cancer. It is important to consult with a healthcare provider if you have any concerns about your platelet count or if you experience symptoms such as easy bruising, prolonged bleeding, or excessive menstrual flow.
Bone marrow is the spongy tissue found inside certain bones in the body, such as the hips, thighs, and vertebrae. It is responsible for producing blood-forming cells, including red blood cells, white blood cells, and platelets. There are two types of bone marrow: red marrow, which is involved in blood cell production, and yellow marrow, which contains fatty tissue.
Red bone marrow contains hematopoietic stem cells, which can differentiate into various types of blood cells. These stem cells continuously divide and mature to produce new blood cells that are released into the circulation. Red blood cells carry oxygen throughout the body, white blood cells help fight infections, and platelets play a crucial role in blood clotting.
Bone marrow also serves as a site for immune cell development and maturation. It contains various types of immune cells, such as lymphocytes, macrophages, and dendritic cells, which help protect the body against infections and diseases.
Abnormalities in bone marrow function can lead to several medical conditions, including anemia, leukopenia, thrombocytopenia, and various types of cancer, such as leukemia and multiple myeloma. Bone marrow aspiration and biopsy are common diagnostic procedures used to evaluate bone marrow health and function.
Bone density refers to the amount of bone mineral content (usually measured in grams) in a given volume of bone (usually measured in cubic centimeters). It is often used as an indicator of bone strength and fracture risk. Bone density is typically measured using dual-energy X-ray absorptiometry (DXA) scans, which provide a T-score that compares the patient's bone density to that of a young adult reference population. A T-score of -1 or above is considered normal, while a T-score between -1 and -2.5 indicates osteopenia (low bone mass), and a T-score below -2.5 indicates osteoporosis (porous bones). Regular exercise, adequate calcium and vitamin D intake, and medication (if necessary) can help maintain or improve bone density and prevent fractures.
Thrombopoietin (TPO) is a glycoprotein hormone that plays a crucial role in the regulation of platelet production, also known as thrombopoiesis. It is primarily produced by the liver and to some extent by megakaryocytes, which are the cells responsible for producing platelets.
TPO binds to its receptor, c-Mpl, on the surface of megakaryocytes and their precursor cells, stimulating their proliferation, differentiation, and maturation into platelets. By regulating the number of platelets in circulation, TPO helps maintain hemostasis, the process that prevents excessive bleeding after injury.
In addition to its role in thrombopoiesis, TPO has been shown to have potential effects on other cell types, including hematopoietic stem cells and certain immune cells. However, its primary function remains the regulation of platelet production.
Thrombosis is the formation of a blood clot (thrombus) inside a blood vessel, obstructing the flow of blood through the circulatory system. When a clot forms in an artery, it can cut off the supply of oxygen and nutrients to the tissues served by that artery, leading to damage or tissue death. If a thrombus forms in the heart, it can cause a heart attack. If a thrombus breaks off and travels through the bloodstream, it can lodge in a smaller vessel, causing blockage and potentially leading to damage in the organ that the vessel supplies. This is known as an embolism.
Thrombosis can occur due to various factors such as injury to the blood vessel wall, abnormalities in blood flow, or changes in the composition of the blood. Certain medical conditions, medications, and lifestyle factors can increase the risk of thrombosis. Treatment typically involves anticoagulant or thrombolytic therapy to dissolve or prevent further growth of the clot, as well as addressing any underlying causes.
Carbamazepine 10,11-epoxide, also known as carbazilquinone, is a metabolite of the anticonvulsant drug carbamazepine. It is an active metabolite that contributes to the therapeutic effect of carbamazepine in the treatment of seizures. However, it can also contribute to some of the side effects associated with carbamazepine therapy, such as liver toxicity and bone marrow suppression.
Carbamazepine is metabolized in the liver by cytochrome P450 enzymes to form carbamazepine 10,11-epoxide. This metabolite can then be further metabolized to other compounds or conjugated with glucuronic acid and excreted in the urine.
It is important to monitor patients taking carbamazepine for signs of toxicity, including liver function tests and complete blood counts, to ensure that the drug is being properly metabolized and eliminated from the body.
Megakaryocytes are large, specialized bone marrow cells that are responsible for the production and release of platelets (also known as thrombocytes) into the bloodstream. Platelets play an essential role in blood clotting and hemostasis, helping to prevent excessive bleeding during injuries or trauma.
Megakaryocytes have a unique structure with multilobed nuclei and abundant cytoplasm rich in organelles called alpha-granules and dense granules, which store various proteins, growth factors, and enzymes necessary for platelet function. As megakaryocytes mature, they extend long cytoplasmic processes called proplatelets into the bone marrow sinuses, where these extensions fragment into individual platelets that are released into circulation.
Abnormalities in megakaryocyte number, size, or function can lead to various hematological disorders, such as thrombocytopenia (low platelet count), thrombocytosis (high platelet count), and certain types of leukemia.
Hydroxyurea is an antimetabolite drug that is primarily used in the treatment of myeloproliferative disorders such as chronic myelogenous leukemia (CML), essential thrombocythemia, and polycythemia vera. It works by interfering with the synthesis of DNA, which inhibits the growth of cancer cells.
In addition to its use in cancer therapy, hydroxyurea is also used off-label for the management of sickle cell disease. In this context, it helps to reduce the frequency and severity of painful vaso-occlusive crises by increasing the production of fetal hemoglobin (HbF), which decreases the formation of sickled red blood cells.
The medical definition of hydroxyurea is:
A hydantoin derivative and antimetabolite that inhibits ribonucleoside diphosphate reductase, thereby interfering with DNA synthesis. It has been used as an antineoplastic agent, particularly in the treatment of myeloproliferative disorders, and more recently for the management of sickle cell disease to reduce the frequency and severity of painful vaso-occlusive crises by increasing fetal hemoglobin production.
Bone resorption is the process by which bone tissue is broken down and absorbed into the body. It is a normal part of bone remodeling, in which old or damaged bone tissue is removed and new tissue is formed. However, excessive bone resorption can lead to conditions such as osteoporosis, in which bones become weak and fragile due to a loss of density. This process is carried out by cells called osteoclasts, which break down the bone tissue and release minerals such as calcium into the bloodstream.
Pipobroman is an antineoplastic agent, which means it is used to treat cancer. It's a type of alkylating agent, specifically a nitrogen mustard. Alkylating agents work by disrupting the DNA of cancer cells, which can prevent them from dividing and growing. Pipobroman has been used in the treatment of chronic myelogenous leukemia (CML), although it's not widely used today due to the availability of more effective treatments.
Please note that medical definitions can vary based on the source, and this definition is intended to be a general overview. Always refer to the most current prescribing information for any medication.
Bone marrow cells are the types of cells found within the bone marrow, which is the spongy tissue inside certain bones in the body. The main function of bone marrow is to produce blood cells. There are two types of bone marrow: red and yellow. Red bone marrow is where most blood cell production takes place, while yellow bone marrow serves as a fat storage site.
The three main types of bone marrow cells are:
1. Hematopoietic stem cells (HSCs): These are immature cells that can differentiate into any type of blood cell, including red blood cells, white blood cells, and platelets. They have the ability to self-renew, meaning they can divide and create more hematopoietic stem cells.
2. Red blood cell progenitors: These are immature cells that will develop into mature red blood cells, also known as erythrocytes. Red blood cells carry oxygen from the lungs to the body's tissues and carbon dioxide back to the lungs.
3. Myeloid and lymphoid white blood cell progenitors: These are immature cells that will develop into various types of white blood cells, which play a crucial role in the body's immune system by fighting infections and diseases. Myeloid progenitors give rise to granulocytes (neutrophils, eosinophils, and basophils), monocytes, and megakaryocytes (which eventually become platelets). Lymphoid progenitors differentiate into B cells, T cells, and natural killer (NK) cells.
Bone marrow cells are essential for maintaining a healthy blood cell count and immune system function. Abnormalities in bone marrow cells can lead to various medical conditions, such as anemia, leukopenia, leukocytosis, thrombocytopenia, or thrombocytosis, depending on the specific type of blood cell affected. Additionally, bone marrow cells are often used in transplantation procedures to treat patients with certain types of cancer, such as leukemia and lymphoma, or other hematologic disorders.
Bone neoplasms are abnormal growths or tumors that develop in the bone. They can be benign (non-cancerous) or malignant (cancerous). Benign bone neoplasms do not spread to other parts of the body and are rarely a threat to life, although they may cause problems if they grow large enough to press on surrounding tissues or cause fractures. Malignant bone neoplasms, on the other hand, can invade and destroy nearby tissue and may spread (metastasize) to other parts of the body.
There are many different types of bone neoplasms, including:
1. Osteochondroma - a benign tumor that develops from cartilage and bone
2. Enchondroma - a benign tumor that forms in the cartilage that lines the inside of the bones
3. Chondrosarcoma - a malignant tumor that develops from cartilage
4. Osteosarcoma - a malignant tumor that develops from bone cells
5. Ewing sarcoma - a malignant tumor that develops in the bones or soft tissues around the bones
6. Giant cell tumor of bone - a benign or occasionally malignant tumor that develops from bone tissue
7. Fibrosarcoma - a malignant tumor that develops from fibrous tissue in the bone
The symptoms of bone neoplasms vary depending on the type, size, and location of the tumor. They may include pain, swelling, stiffness, fractures, or limited mobility. Treatment options depend on the type and stage of the tumor but may include surgery, radiation therapy, chemotherapy, or a combination of these treatments.
Bone development, also known as ossification, is the process by which bone tissue is formed and grows. This complex process involves several different types of cells, including osteoblasts, which produce new bone matrix, and osteoclasts, which break down and resorb existing bone tissue.
There are two main types of bone development: intramembranous and endochondral ossification. Intramembranous ossification occurs when bone tissue forms directly from connective tissue, while endochondral ossification involves the formation of a cartilage model that is later replaced by bone.
During fetal development, most bones develop through endochondral ossification, starting as a cartilage template that is gradually replaced by bone tissue. However, some bones, such as those in the skull and clavicles, develop through intramembranous ossification.
Bone development continues after birth, with new bone tissue being laid down and existing tissue being remodeled throughout life. This ongoing process helps to maintain the strength and integrity of the skeleton, allowing it to adapt to changing mechanical forces and repair any damage that may occur.
Bone diseases is a broad term that refers to various medical conditions that affect the bones. These conditions can be categorized into several groups, including:
1. Developmental and congenital bone diseases: These are conditions that affect bone growth and development before or at birth. Examples include osteogenesis imperfecta (brittle bone disease), achondroplasia (dwarfism), and cleidocranial dysostosis.
2. Metabolic bone diseases: These are conditions that affect the body's ability to maintain healthy bones. They are often caused by hormonal imbalances, vitamin deficiencies, or problems with mineral metabolism. Examples include osteoporosis, osteomalacia, and Paget's disease of bone.
3. Inflammatory bone diseases: These are conditions that cause inflammation in the bones. They can be caused by infections, autoimmune disorders, or other medical conditions. Examples include osteomyelitis, rheumatoid arthritis, and ankylosing spondylitis.
4. Degenerative bone diseases: These are conditions that cause the bones to break down over time. They can be caused by aging, injury, or disease. Examples include osteoarthritis, avascular necrosis, and diffuse idiopathic skeletal hyperostosis (DISH).
5. Tumors and cancers of the bone: These are conditions that involve abnormal growths in the bones. They can be benign or malignant. Examples include osteosarcoma, chondrosarcoma, and Ewing sarcoma.
6. Fractures and injuries: While not strictly a "disease," fractures and injuries are common conditions that affect the bones. They can result from trauma, overuse, or weakened bones. Examples include stress fractures, compound fractures, and dislocations.
Overall, bone diseases can cause a wide range of symptoms, including pain, stiffness, deformity, and decreased mobility. Treatment for these conditions varies depending on the specific diagnosis but may include medication, surgery, physical therapy, or lifestyle changes.
Granulocytes are a type of white blood cell that plays a crucial role in the body's immune system. They are called granulocytes because they contain small granules in their cytoplasm, which are filled with various enzymes and proteins that help them fight off infections and destroy foreign substances.
There are three types of granulocytes: neutrophils, eosinophils, and basophils. Neutrophils are the most abundant type and are primarily responsible for fighting bacterial infections. Eosinophils play a role in defending against parasitic infections and regulating immune responses. Basophils are involved in inflammatory reactions and allergic responses.
Granulocytes are produced in the bone marrow and released into the bloodstream, where they circulate and patrol for any signs of infection or foreign substances. When they encounter a threat, they quickly move to the site of infection or injury and release their granules to destroy the invading organisms or substances.
Abnormal levels of granulocytes in the blood can indicate an underlying medical condition, such as an infection, inflammation, or a bone marrow disorder.
Leukocytosis is a condition characterized by an increased number of leukocytes (white blood cells) in the peripheral blood. A normal white blood cell count ranges from 4,500 to 11,000 cells per microliter of blood in adults. Leukocytosis is typically considered present when the white blood cell count exceeds 11,000 cells/µL. However, the definition might vary slightly depending on the laboratory and clinical context.
Leukocytosis can be a response to various underlying conditions, including bacterial or viral infections, inflammation, tissue damage, leukemia, and other hematological disorders. It is essential to investigate the cause of leukocytosis through further diagnostic tests, such as blood smears, differential counts, and additional laboratory and imaging studies, to guide appropriate treatment.
A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.
Thrombopoiesis is the process of formation and development of thrombocytes or platelets, which are small, colorless cell fragments in our blood that play an essential role in clotting. Thrombopoiesis occurs inside the bone marrow, where stem cells differentiate into megakaryoblasts, then progressively develop into promegakaryocytes and megakaryocytes. These megakaryocytes subsequently undergo a process called cytoplasmic fragmentation to produce platelets.
The regulation of thrombopoiesis is primarily controlled by the hormone thrombopoietin (TPO), which is produced mainly in the liver and binds to the thrombopoietin receptor (c-Mpl) on megakaryocytes and their precursors. This binding stimulates the proliferation, differentiation, and maturation of megakaryocytes, leading to an increase in platelet production.
Abnormalities in thrombopoiesis can result in conditions such as thrombocytopenia (low platelet count) or thrombocytosis (high platelet count), which may be associated with bleeding disorders or increased risk of thrombosis, respectively.
Erythrocyte inclusions refer to the presence of abnormal structures or substances within red blood cells (erythrocytes). These inclusions can be composed of various materials such as proteins, pigments, or foreign bodies. They may be seen in a variety of medical conditions and can provide important diagnostic clues.
Some examples of erythrocyte inclusions include:
1. Howell-Jolly bodies: small remnants of nuclear material left behind after the red blood cell matures. They are typically seen in individuals with an absent or nonfunctional spleen.
2. Heinz bodies: denatured hemoglobin that forms clumps within the red blood cells. They can be seen in conditions such as hemolytic anemia, G6PD deficiency, and exposure to certain drugs or toxins.
3. Pappenheimer bodies: aggregates of iron-containing proteins called ferritin or hemosiderin. They are typically seen in conditions associated with increased red blood cell destruction, such as thalassemia or lead poisoning.
4. Basophilic stippling: small, basophilic (blue-staining) granules within the red blood cells. They can be seen in various conditions, including lead poisoning, megaloblastic anemias, and certain inherited disorders.
5. Parasites: organisms such as malaria or babesia that infect and multiply within the red blood cells.
The detection of erythrocyte inclusions typically requires specialized testing, such as peripheral blood smears stained with specific dyes to highlight the abnormal structures. The presence and type of inclusions can help diagnose certain medical conditions and guide appropriate treatment.
Splenomegaly is a medical term that refers to an enlargement or expansion of the spleen beyond its normal size. The spleen is a vital organ located in the upper left quadrant of the abdomen, behind the stomach and below the diaphragm. It plays a crucial role in filtering the blood, fighting infections, and storing red and white blood cells and platelets.
Splenomegaly can occur due to various underlying medical conditions, including infections, liver diseases, blood disorders, cancer, and inflammatory diseases. The enlarged spleen may put pressure on surrounding organs, causing discomfort or pain in the abdomen, and it may also lead to a decrease in red and white blood cells and platelets, increasing the risk of anemia, infections, and bleeding.
The diagnosis of splenomegaly typically involves a physical examination, medical history, and imaging tests such as ultrasound, CT scan, or MRI. Treatment depends on the underlying cause and may include medications, surgery, or other interventions to manage the underlying condition.
Bone regeneration is the biological process of new bone formation that occurs after an injury or removal of a portion of bone. This complex process involves several stages, including inflammation, migration and proliferation of cells, matrix deposition, and mineralization, leading to the restoration of the bone's structure and function.
The main cells involved in bone regeneration are osteoblasts, which produce new bone matrix, and osteoclasts, which resorb damaged or old bone tissue. The process is tightly regulated by various growth factors, hormones, and signaling molecules that promote the recruitment, differentiation, and activity of these cells.
Bone regeneration can occur naturally in response to injury or surgical intervention, such as fracture repair or dental implant placement. However, in some cases, bone regeneration may be impaired due to factors such as age, disease, or trauma, leading to delayed healing or non-union of the bone. In these situations, various strategies and techniques, including the use of bone grafts, scaffolds, and growth factors, can be employed to enhance and support the bone regeneration process.
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.
A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.
Polycythemia is a medical condition characterized by an abnormal increase in the total red blood cell (RBC) mass or hematocrit (the percentage of RBCs in the blood). This results in a higher-than-normal viscosity of the blood, which can lead to various complications such as impaired circulation, increased risk of blood clots, and reduced oxygen supply to the tissues.
There are two main types of polycythemia: primary and secondary. Primary polycythemia, also known as polycythemia vera, is a rare myeloproliferative neoplasm caused by genetic mutations that lead to excessive production of RBCs in the bone marrow. Secondary polycythemia, on the other hand, is a reactive condition triggered by various factors such as chronic hypoxia (low oxygen levels), high altitude, smoking, or certain medical conditions like sleep apnea, heart disease, or kidney tumors.
Symptoms of polycythemia may include fatigue, headaches, dizziness, shortness of breath, itching, and a bluish or reddish tint to the skin (cyanosis). Treatment depends on the underlying cause and severity of the condition and may involve phlebotomy, medications to reduce RBC production, and management of associated complications.
Refractory anemia is a type of anemia that does not respond to typical treatments, such as iron supplements or hormonal therapy. It is often associated with various bone marrow disorders, including myelodysplastic syndromes (MDS), a group of conditions characterized by abnormal blood cell production in the bone marrow.
In refractory anemia, the bone marrow fails to produce enough healthy red blood cells, leading to symptoms such as fatigue, weakness, shortness of breath, and pale skin. The condition can be difficult to treat, and treatment options may include more aggressive therapies such as immunosuppressive drugs, chemotherapy, or stem cell transplantation.
It is important to note that the term "refractory" in this context refers specifically to the lack of response to initial treatments, rather than a specific severity or type of anemia.
Bone matrix refers to the non-cellular component of bone that provides structural support and functions as a reservoir for minerals, such as calcium and phosphate. It is made up of organic and inorganic components. The organic component consists mainly of type I collagen fibers, which provide flexibility and tensile strength to the bone. The inorganic component is primarily composed of hydroxyapatite crystals, which give bone its hardness and compressive strength. Bone matrix also contains other proteins, growth factors, and signaling molecules that regulate bone formation, remodeling, and repair.
Coagulants are substances that promote the process of coagulation or clotting. They are often used in medical settings to help control bleeding and promote healing. Coagulants work by encouraging the formation of a clot, which helps to stop the flow of blood from a wound or cut.
There are several different types of coagulants that may be used in medical treatments. Some coagulants are naturally occurring substances, such as vitamin K, which is essential for the production of certain clotting factors in the body. Other coagulants may be synthetic or semi-synthetic compounds, such as recombinant activated factor VII (rFVIIa), which is used to treat bleeding disorders and prevent excessive bleeding during surgery.
Coagulants are often administered through injection or infusion, but they can also be applied topically to wounds or cuts. In some cases, coagulants may be used in combination with other treatments, such as compression or cauterization, to help control bleeding and promote healing.
It is important to note that while coagulants can be helpful in controlling bleeding and promoting healing, they can also increase the risk of blood clots and other complications. As a result, they should only be used under the guidance and supervision of a qualified healthcare professional.
Thrombophilia is a medical condition characterized by an increased tendency to form blood clots (thrombi) due to various genetic or acquired abnormalities in the coagulation system. These abnormalities can lead to a hypercoagulable state, which can cause thrombosis in both veins and arteries. Commonly identified thrombophilias include factor V Leiden mutation, prothrombin G20210A mutation, antithrombin deficiency, protein C deficiency, and protein S deficiency.
Acquired thrombophilias can be caused by various factors such as antiphospholipid antibody syndrome (APS), malignancies, pregnancy, oral contraceptive use, hormone replacement therapy, and certain medical conditions like inflammatory bowel disease or nephrotic syndrome.
It is essential to diagnose thrombophilia accurately, as it may influence the management of venous thromboembolism (VTE) events and guide decisions regarding prophylactic anticoagulation in high-risk situations.
Chronic myeloid leukemia (CML), atypical, BCR-ABL negative is a rare subtype of CML that does not have the typical Philadelphia chromosome abnormality or the resulting BCR-ABL fusion gene. This means that the disease lacks the constitutively active tyrosine kinase that is targeted by imatinib mesylate (Gleevec) and other similar drugs.
The atypical form of CML is often characterized by a more aggressive clinical course, with a higher risk of transformation to acute leukemia compared to the classic form of CML. It can be difficult to diagnose and treat due to its rarity and heterogeneity. Treatment options may include chemotherapy, targeted therapy, stem cell transplantation, or a combination of these approaches. Regular follow-up with blood tests and bone marrow examinations is essential for monitoring the disease course and adjusting treatment as necessary.
An amino acid substitution is a type of mutation in which one amino acid in a protein is replaced by another. This occurs when there is a change in the DNA sequence that codes for a particular amino acid in a protein. The genetic code is redundant, meaning that most amino acids are encoded by more than one codon (a sequence of three nucleotides). As a result, a single base pair change in the DNA sequence may not necessarily lead to an amino acid substitution. However, if a change does occur, it can have a variety of effects on the protein's structure and function, depending on the nature of the substituted amino acids. Some substitutions may be harmless, while others may alter the protein's activity or stability, leading to disease.
Bone marrow transplantation (BMT) is a medical procedure in which damaged or destroyed bone marrow is replaced with healthy bone marrow from a donor. Bone marrow is the spongy tissue inside bones that produces blood cells. The main types of BMT are autologous, allogeneic, and umbilical cord blood transplantation.
In autologous BMT, the patient's own bone marrow is used for the transplant. This type of BMT is often used in patients with lymphoma or multiple myeloma who have undergone high-dose chemotherapy or radiation therapy to destroy their cancerous bone marrow.
In allogeneic BMT, bone marrow from a genetically matched donor is used for the transplant. This type of BMT is often used in patients with leukemia, lymphoma, or other blood disorders who have failed other treatments.
Umbilical cord blood transplantation involves using stem cells from umbilical cord blood as a source of healthy bone marrow. This type of BMT is often used in children and adults who do not have a matched donor for allogeneic BMT.
The process of BMT typically involves several steps, including harvesting the bone marrow or stem cells from the donor, conditioning the patient's body to receive the new bone marrow or stem cells, transplanting the new bone marrow or stem cells into the patient's body, and monitoring the patient for signs of engraftment and complications.
BMT is a complex and potentially risky procedure that requires careful planning, preparation, and follow-up care. However, it can be a life-saving treatment for many patients with blood disorders or cancer.
Bone transplantation, also known as bone grafting, is a surgical procedure in which bone or bone-like material is transferred from one part of the body to another or from one person to another. The graft may be composed of cortical (hard outer portion) bone, cancellous (spongy inner portion) bone, or a combination of both. It can be taken from different sites in the same individual (autograft), from another individual of the same species (allograft), or from an animal source (xenograft). The purpose of bone transplantation is to replace missing bone, provide structural support, and stimulate new bone growth. This procedure is commonly used in orthopedic, dental, and maxillofacial surgeries to repair bone defects caused by trauma, tumors, or congenital conditions.
Hematologic pregnancy complications refer to disorders related to the blood and blood-forming tissues that occur during pregnancy. These complications can have serious consequences for both the mother and the fetus if not properly managed. Some common hematologic pregnancy complications include:
1. Anemia: A condition characterized by a decrease in the number of red blood cells or hemoglobin in the blood, which can lead to fatigue, weakness, and shortness of breath. Iron-deficiency anemia is the most common type of anemia during pregnancy.
2. Thrombocytopenia: A condition characterized by a decrease in the number of platelets (cells that help blood clot) in the blood. Mild thrombocytopenia is relatively common during pregnancy, but severe thrombocytopenia can increase the risk of bleeding during delivery.
3. Gestational thrombotic thrombocytopenic purpura (GTTP): A rare but serious disorder that can cause blood clots to form in small blood vessels throughout the body, leading to a decrease in the number of platelets and red blood cells. GTTP can cause serious complications such as stroke, kidney failure, and even death if not promptly diagnosed and treated.
4. Disseminated intravascular coagulation (DIC): A condition characterized by abnormal clotting and bleeding throughout the body. DIC can be triggered by various conditions such as severe infections, pregnancy complications, or cancer.
5. Hemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome: A serious complication of pregnancy that can cause damage to the liver and lead to bleeding. HELLP syndrome is often associated with preeclampsia, a condition characterized by high blood pressure and damage to organs such as the liver and kidneys.
It's important for pregnant women to receive regular prenatal care to monitor for these and other potential complications, and to seek prompt medical attention if any concerning symptoms arise.
Hemorrhage is defined in the medical context as an excessive loss of blood from the circulatory system, which can occur due to various reasons such as injury, surgery, or underlying health conditions that affect blood clotting or the integrity of blood vessels. The bleeding may be internal, external, visible, or concealed, and it can vary in severity from minor to life-threatening, depending on the location and extent of the bleeding. Hemorrhage is a serious medical emergency that requires immediate attention and treatment to prevent further blood loss, organ damage, and potential death.
Platelet aggregation inhibitors are a class of medications that prevent platelets (small blood cells involved in clotting) from sticking together and forming a clot. These drugs work by interfering with the ability of platelets to adhere to each other and to the damaged vessel wall, thereby reducing the risk of thrombosis (blood clot formation).
Platelet aggregation inhibitors are often prescribed for people who have an increased risk of developing blood clots due to various medical conditions such as atrial fibrillation, coronary artery disease, peripheral artery disease, stroke, or a history of heart attack. They may also be used in patients undergoing certain medical procedures, such as angioplasty and stenting, to prevent blood clot formation in the stents.
Examples of platelet aggregation inhibitors include:
1. Aspirin: A nonsteroidal anti-inflammatory drug (NSAID) that irreversibly inhibits the enzyme cyclooxygenase, which is involved in platelet activation and aggregation.
2. Clopidogrel (Plavix): A P2Y12 receptor antagonist that selectively blocks ADP-induced platelet activation and aggregation.
3. Prasugrel (Effient): A third-generation thienopyridine P2Y12 receptor antagonist, similar to clopidogrel but with faster onset and greater potency.
4. Ticagrelor (Brilinta): A direct-acting P2Y12 receptor antagonist that does not require metabolic activation and has a reversible binding profile.
5. Dipyridamole (Persantine): An antiplatelet agent that inhibits platelet aggregation by increasing cyclic adenosine monophosphate (cAMP) levels in platelets, which leads to decreased platelet reactivity.
6. Iloprost (Ventavis): A prostacyclin analogue that inhibits platelet aggregation and causes vasodilation, often used in the treatment of pulmonary arterial hypertension.
7. Cilostazol (Pletal): A phosphodiesterase III inhibitor that increases cAMP levels in platelets, leading to decreased platelet activation and aggregation, as well as vasodilation.
8. Ticlopidine (Ticlid): An older P2Y12 receptor antagonist with a slower onset of action and more frequent side effects compared to clopidogrel or prasugrel.
The World Health Organization (WHO) is not a medical condition or term, but rather a specialized agency of the United Nations responsible for international public health. Here's a brief description:
The World Health Organization (WHO) is a specialized agency of the United Nations that acts as the global authority on public health issues. Established in 1948, WHO's primary role is to coordinate and collaborate with its member states to promote health, prevent diseases, and ensure universal access to healthcare services. WHO is headquartered in Geneva, Switzerland, and has regional offices around the world. It plays a crucial role in setting global health standards, monitoring disease outbreaks, and providing guidance on various public health concerns, including infectious diseases, non-communicable diseases, mental health, environmental health, and maternal, newborn, child, and adolescent health.
Thrombocytopenia is a medical condition characterized by an abnormally low platelet count (thrombocytes) in the blood. Platelets are small cell fragments that play a crucial role in blood clotting, helping to stop bleeding when a blood vessel is damaged. A healthy adult typically has a platelet count between 150,000 and 450,000 platelets per microliter of blood. Thrombocytopenia is usually diagnosed when the platelet count falls below 150,000 platelets/µL.
Thrombocytopenia can be classified into three main categories based on its underlying cause:
1. Immune thrombocytopenia (ITP): An autoimmune disorder where the immune system mistakenly attacks and destroys its own platelets, leading to a decreased platelet count. ITP can be further divided into primary or secondary forms, depending on whether it occurs alone or as a result of another medical condition or medication.
2. Decreased production: Thrombocytopenia can occur when there is insufficient production of platelets in the bone marrow due to various causes, such as viral infections, chemotherapy, radiation therapy, leukemia, aplastic anemia, or vitamin B12 or folate deficiency.
3. Increased destruction or consumption: Thrombocytopenia can also result from increased platelet destruction or consumption due to conditions like disseminated intravascular coagulation (DIC), thrombotic thrombocytopenic purpura (TTP), hemolytic uremic syndrome (HUS), or severe bacterial infections.
Symptoms of thrombocytopenia may include easy bruising, prolonged bleeding from cuts, spontaneous nosebleeds, bleeding gums, blood in urine or stools, and skin rashes like petechiae (small red or purple spots) or purpura (larger patches). The severity of symptoms can vary depending on the degree of thrombocytopenia and the presence of any underlying conditions. Treatment for thrombocytopenia depends on the cause and may include medications, transfusions, or addressing the underlying condition.
GPI-linked proteins are a type of cell surface protein that are attached to the plasma membrane via a glycosylphosphatidylinositol (GPI) anchor. The GPI anchor is a complex glycolipid molecule that acts as a molecular tether, connecting the protein to the outer leaflet of the lipid bilayer of the cell membrane.
The GPI anchor is synthesized in the endoplasmic reticulum (ER) and added to proteins in the ER or Golgi apparatus during protein trafficking. The addition of the GPI anchor to a protein occurs in a post-translational modification process called GPI anchoring, which involves the transfer of the GPI moiety from a lipid carrier to the carboxyl terminus of the protein.
GPI-linked proteins are found on the surface of many different types of cells, including red blood cells, immune cells, and nerve cells. They play important roles in various cellular processes, such as cell signaling, cell adhesion, and enzyme function. Some GPI-linked proteins also serve as receptors for bacterial toxins and viruses, making them potential targets for therapeutic intervention.
Bone substitutes are materials that are used to replace missing or damaged bone in the body. They can be made from a variety of materials, including natural bone from other parts of the body or from animals, synthetic materials, or a combination of both. The goal of using bone substitutes is to provide structural support and promote the growth of new bone tissue.
Bone substitutes are often used in dental, orthopedic, and craniofacial surgery to help repair defects caused by trauma, tumors, or congenital abnormalities. They can also be used to augment bone volume in procedures such as spinal fusion or joint replacement.
There are several types of bone substitutes available, including:
1. Autografts: Bone taken from another part of the patient's body, such as the hip or pelvis.
2. Allografts: Bone taken from a deceased donor and processed to remove any cells and infectious materials.
3. Xenografts: Bone from an animal source, typically bovine or porcine, that has been processed to remove any cells and infectious materials.
4. Synthetic bone substitutes: Materials such as calcium phosphate ceramics, bioactive glass, and polymer-based materials that are designed to mimic the properties of natural bone.
The choice of bone substitute material depends on several factors, including the size and location of the defect, the patient's medical history, and the surgeon's preference. It is important to note that while bone substitutes can provide structural support and promote new bone growth, they may not have the same strength or durability as natural bone. Therefore, they may not be suitable for all applications, particularly those that require high load-bearing capacity.
A cavernous hemangioma is a type of benign vascular tumor that is made up of large, dilated blood vessels. It is characterized by the presence of large, "cavernous" spaces or sacs filled with blood. These lesions can occur in various parts of the body, but when they occur in the skin or mucous membranes, they appear as well-circumscribed rubbery masses that are compressible and blanchable (turn pale when pressed).
Cavernous hemangiomas are most commonly found on the face and neck, but they can also occur in other parts of the body such as the liver. They typically grow slowly during infancy or early childhood and then stabilize or even regress spontaneously over time. However, if they are located in critical areas such as the airway or near vital organs, they may require treatment to prevent complications.
Histologically, cavernous hemangiomas are composed of large, irregularly shaped vascular spaces lined by a single layer of endothelial cells and surrounded by fibrous tissue. Treatment options for cavernous hemangiomas include observation, compression therapy, laser therapy, surgical excision, or embolization.
Metabolic bone diseases are a group of conditions that affect the bones and are caused by disorders in the body's metabolism. These disorders can result in changes to the bone structure, density, and strength, leading to an increased risk of fractures and other complications. Some common examples of metabolic bone diseases include:
1. Osteoporosis: a condition characterized by weak and brittle bones that are more likely to break, often as a result of age-related bone loss or hormonal changes.
2. Paget's disease of bone: a chronic disorder that causes abnormal bone growth and deformities, leading to fragile and enlarged bones.
3. Osteomalacia: a condition caused by a lack of vitamin D or problems with the body's ability to absorb it, resulting in weak and soft bones.
4. Hyperparathyroidism: a hormonal disorder that causes too much parathyroid hormone to be produced, leading to bone loss and other complications.
5. Hypoparathyroidism: a hormonal disorder that results in low levels of parathyroid hormone, causing weak and brittle bones.
6. Renal osteodystrophy: a group of bone disorders that occur as a result of chronic kidney disease, including osteomalacia, osteoporosis, and high turnover bone disease.
Treatment for metabolic bone diseases may include medications to improve bone density and strength, dietary changes, exercise, and lifestyle modifications. In some cases, surgery may be necessary to correct bone deformities or fractures.
A bone fracture is a medical condition in which there is a partial or complete break in the continuity of a bone due to external or internal forces. Fractures can occur in any bone in the body and can vary in severity from a small crack to a shattered bone. The symptoms of a bone fracture typically include pain, swelling, bruising, deformity, and difficulty moving the affected limb. Treatment for a bone fracture may involve immobilization with a cast or splint, surgery to realign and stabilize the bone, or medication to manage pain and prevent infection. The specific treatment approach will depend on the location, type, and severity of the fracture.
Hematopoietic stem cells (HSCs) are immature, self-renewing cells that give rise to all the mature blood and immune cells in the body. They are capable of both producing more hematopoietic stem cells (self-renewal) and differentiating into early progenitor cells that eventually develop into red blood cells, white blood cells, and platelets. HSCs are found in the bone marrow, umbilical cord blood, and peripheral blood. They have the ability to repair damaged tissues and offer significant therapeutic potential for treating various diseases, including hematological disorders, genetic diseases, and cancer.
Cytokine receptors are specialized protein molecules found on the surface of cells that selectively bind to specific cytokines. Cytokines are signaling molecules used for communication between cells, and they play crucial roles in regulating immune responses, inflammation, hematopoiesis, and cell survival.
Cytokine receptors have specific binding sites that recognize and interact with the corresponding cytokines. This interaction triggers a series of intracellular signaling events that ultimately lead to changes in gene expression and various cellular responses. Cytokine receptors can be found on many different types of cells, including immune cells, endothelial cells, and structural cells like fibroblasts.
Cytokine receptors are typically composed of multiple subunits, which may include both extracellular and intracellular domains. The extracellular domain is responsible for cytokine binding, while the intracellular domain is involved in signal transduction. Cytokine receptors can be classified into several families based on their structural features and signaling mechanisms, such as the hematopoietic cytokine receptor family, the interferon receptor family, the tumor necrosis factor receptor family, and the interleukin-1 receptor family.
Dysregulation of cytokine receptors and their signaling pathways has been implicated in various diseases, including autoimmune disorders, chronic inflammation, and cancer. Therefore, understanding the biology of cytokine receptors is essential for developing targeted therapies to treat these conditions.
Quinazolines are not a medical term per se, but they are a class of organic compounds that have been widely used in the development of various pharmaceutical drugs. Therefore, I will provide you with a chemical definition of quinazolines:
Quinazolines are heterocyclic aromatic organic compounds consisting of a benzene ring fused to a pyrazine ring. The structure can be represented as follows:
Quinazoline
They are often used as building blocks in the synthesis of various drugs, including those used for treating cancer, cardiovascular diseases, and microbial infections. Some examples of FDA-approved drugs containing a quinazoline core include the tyrosine kinase inhibitors gefitinib (Iressa) and erlotinib (Tarceva), which are used to treat non-small cell lung cancer, and the calcium channel blocker verapamil (Calan, Isoptin), which is used to treat hypertension and angina.
Isoantigens are antigens that are present on the cells or tissues of one individual of a species, but are absent or different in another individual of the same species. They are also known as "alloantigens." Isoantigens are most commonly found on the surface of red blood cells and other tissues, and they can stimulate an immune response when transplanted into a different individual. This is because the recipient's immune system recognizes the isoantigens as foreign and mounts a defense against them. Isoantigens are important in the field of transplantation medicine, as they must be carefully matched between donor and recipient to reduce the risk of rejection.
Bone Morphogenetic Proteins (BMPs) are a group of growth factors that play crucial roles in the development, growth, and repair of bones and other tissues. They belong to the Transforming Growth Factor-β (TGF-β) superfamily and were first discovered when researchers found that certain proteins extracted from demineralized bone matrix had the ability to induce new bone formation.
BMPs stimulate the differentiation of mesenchymal stem cells into osteoblasts, which are the cells responsible for bone formation. They also promote the recruitment and proliferation of these cells, enhancing the overall process of bone regeneration. In addition to their role in bone biology, BMPs have been implicated in various other biological processes, including embryonic development, wound healing, and the regulation of fat metabolism.
There are several types of BMPs (BMP-2, BMP-4, BMP-7, etc.) that exhibit distinct functions and expression patterns. Due to their ability to stimulate bone formation, recombinant human BMPs have been used in clinical applications, such as spinal fusion surgery and non-healing fracture treatment. However, the use of BMPs in medicine has been associated with certain risks and complications, including uncontrolled bone growth, inflammation, and cancer development, which necessitates further research to optimize their therapeutic potential.
A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.
The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.
Lukáš Plank
Thrombocythemia
Essential thrombocythemia
CFU-Meg
Megakaryocyte
Prefibrotic primary myelofibrosis
Hydroxycarbamide
KDM1A
New York Blood Center
Myeloproliferative neoplasm
Platelet factor 4
Primary myelofibrosis
Tumors of the hematopoietic and lymphoid tissues
Polycythemia vera
Eosinophilia
Complete blood count
Thrombopoietin receptor
Virtual karyotype
Anagrelide
Ruxolitinib
Thrombocytopenia
Peptidoglycan recognition protein 1
Fedratinib
Peptidoglycan recognition protein
Deep vein thrombosis
Janus kinase inhibitor
William Vainchenker
Apheresis
Immunomodulatory imide drug
International Classification of Diseases for Oncology
Bone Marrow Disease | Bone Marrow | MedlinePlus
Bone marrow fibrosis in myelofibrosis: pathogenesis, prognosis and targeted strategies | Haematologica
The prognostic relevance of serum lactate dehydrogenase and mild bone marrow reticulin fibrosis in essential thrombocythemia<...
Treatment for Myeloproliferative Neoplasms (MPN) | Memorial Sloan Kettering Cancer Center
Thrombocythemia and Thrombocytosis - What Causes Thrombocythemia and Thrombocytosis? | NHLBI, NIH
High Platelet Count | Learn About What This Means | LLS
Lukáš Plank - Wikipedia
Myeloproliferative Disease: Practice Essentials, Background, Pathophysiology
Myeloproliferative Disease: Practice Essentials, Background, Pathophysiology
Giovanni LI VOLTI | Professor | MD, PhD | University of Catania, Catania | UNICT | Department of Biomedical and...
SPLEEN - ABC Homeopathy Forum
Atlas of Bone Marrow pathology: Refractory Cytopenia with Unilineage Dysplasia (RCUD)
Jane Larae Liesveld, M.D. | UR Medicine
EU/3/10/810 | European Medicines Agency
FDA approves treatment for patients with rare bone marrow disorder | FDA
Pacritinib Advanced Patient Information - Drugs.com
Essential thrombocythemia - Vejthani Hospital | JCI Accredited International Hospital in Bangkok, Thailand.
Merck to Acquire Imago BioSciences, Inc. - Merck.com
Hematology
Myeloproliferative Disorders | Conditions | UCSF Health
JAK2, Exon 12 Mutation Analysis (92474) | Rady Children's Hospital
Special Exposure Cohort Employees (SEC) | U.S. Department of Labor
Galena Nabs Mills Pharmaceuticals, Adds Anagrelide CR to Pipeline
Essential thrombocythemia
Chronic Myelomonocytic Laukemia (CMML) and Myelofibrosis (MF)<...
Bone Marrow Cancer Study Now Extended
Blood Cancers | Cancer Support Community
A Background on Myeloproliferative Neoplasms
Myeloproliferative disorders
Nikolai Podoltsev, MD, PhD | Yale School of Medicine
Myelofibrosis46
- Bone marrow fibrosis is a central pathological feature and World Health Organization major diagnostic criterion of myelofibrosis. (haematologica.org)
- Although bone marrow fibrosis is seen in a variety of malignant and non-malignant disease states, the deposition of reticulin and collagen fibrosis in the bone marrow of patients with myelofibrosis is believed to be mediated by the myelofibrosis hematopoietic stem/progenitor cell, contributing to an impaired microenvironment favoring malignant over normal hematopoiesis. (haematologica.org)
- However, modern myelofibrosis prognostication systems utilized in risk-adapted treatment approaches do not include bone marrow fibrosis as a prognostic variable. (haematologica.org)
- The specific effect on bone marrow fibrosis of JAK2 inhibition, and other rationally based therapies currently being evaluated in myelofibrosis, has yet to be fully elucidated. (haematologica.org)
- Hematopoietic stem cell transplantation remains the only curative therapeutic approach that reliably results in resolution of bone marrow fibrosis in patients with myelofibrosis. (haematologica.org)
- MF can present as primary myelofibrosis (PMF), or arise from a pre-existing diagnosis of polycythemia vera or essential thrombocythemia. (haematologica.org)
- The 2016 World Health Organization (WHO) diagnostic criteria for myeloproliferative neoplasms (MPN) underscore the prognostically-relevant distinction between essential thrombocythemia (ET) and prefibrotic primary myelofibrosis (pre-PMF). (elsevierpure.com)
- In the case of myelofibrosis, bone marrow fibrosis is demonstrated on the reticulin stain. (medscape.com)
- Subtypes include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). (researchgate.net)
- Philadelphia-negative myeloproliferative neoplasms (MPNs) include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). (researchgate.net)
- On 26 November 2010, orphan designation (EU/3/10/810) was granted by the European Commission to Dr Ulrich Granzer, Germany, for N-tert-butyl-3-[(5-methyl-2-{[4-(2-pyrrolidin-1-ylethoxy)phenyl]amino}pyrimidin-4-yl)amino] benzenesulfonamide dihydrochloride monohydrate for the treatment of post-essential thrombocythaemia myelofibrosis. (europa.eu)
- N-tert-butyl-3-[(5-methyl-2-{[4-(2-pyrrolidin-1-ylethoxy)phenyl]amino}pyrimidin-4-yl)amino] benzenesulfonamide dihydrochloride monohydrate for treatment of post-essential thrombocythaemia myelofibrosis has been authorised in the EU as Inrebic since 8 February 2021. (europa.eu)
- What is post-essential thrombocythaemia myelofibrosis? (europa.eu)
- Myelofibrosis is a disease in which the bone marrow (the spongy tissue inside the large bones) becomes dense and fibrous, and starts producing abnormal immature blood cells that replace the normal blood cells. (europa.eu)
- In myelofibrosis, some immature blood cells migrate from the bone marrow to other organs, such as the spleen and liver, where they mature. (europa.eu)
- Post-essential thrombocythaemia myelofibrosis is a debilitating disease that is long-lasting and may be life-threatening because it can lead to severe anaemia (low red-blood-cell counts) and infections, and can result in leukaemia (cancer of the white blood cells). (europa.eu)
- At the time of designation, post-essential thrombocythaemia myelofibrosis affected less than 0.15 in 10,000 people in the European Union (EU). (europa.eu)
- At the time of designation, although hydroxyurea and busulfan were authorised in the EU for primary myelofibrosis (myelofibrosis of unknown cause), there were no treatments authorised specifically for post-essential thrombocythaemia myelofibrosis. (europa.eu)
- At the time of submission of the application for orphan designation , clinical trials with the medicine including patients with post-essential thrombocythaemia myelofibrosis were ongoing. (europa.eu)
- At the time of submission, this medicine was not authorised anywhere in the EU for post-essential thrombocythaemia myelofibrosis. (europa.eu)
- Prior to today, there was one FDA-approved drug to treat patients with myelofibrosis, a rare bone marrow disorder. (fda.gov)
- Myelofibrosis is a chronic disorder where scar tissue forms in the bone marrow and the production of the blood cells moves from the bone marrow to the spleen and liver, causing organ enlargement. (fda.gov)
- Secondary myelofibrosis occurs when there is excessive red blood cell production (polycythemia vera) or excessive platelet production (essential thrombocythemia) that evolves into myelofibrosis. (fda.gov)
- The approval of Inrebic for intermediate-2 or high-risk primary or secondary (post-polycythemia vera or post-essential thrombocythemia) myelofibrosis was based on the results of a clinical trial where 289 patients with myelofibrosis were randomized to receive two different doses (400 mg or 500 mg daily by mouth) of fedratinib or placebo. (fda.gov)
- As a result of treatment with Inrebic, 36 patients experienced greater than or equal to a 50% reduction in myelofibrosis-related symptoms, such as night sweats, itching, abdominal discomfort, feeling full sooner than normal, pain under ribs on left side, and bone or muscle pain. (fda.gov)
- Pacritinib is used to treat intermediate or high-risk myelofibrosis, including primary myelofibrosis, post-polycythemia vera myelofibrosis, and post-essential thrombocythemia myelofibrosis. (drugs.com)
- Myelofibrosis is a life-threatening bone marrow problem which is manifested by the following symptoms: enlarged spleen (splenomegaly), severe itching, fever, night sweats, weight loss, bone pain, or unusual tiredness or weakness. (drugs.com)
- Imago's lead candidate bomedemstat (IMG-7289), an investigational orally available lysine-specific demethylase 1 (LSD1) inhibitor, is currently being evaluated in multiple Phase 2 clinical trials for the treatment of essential thrombocythemia (ET), myelofibrosis (MF), and polycythemia vera (PV), in addition to other indications. (merck.com)
- MPNs can sometimes transform to leukemia or to myelofibrosis, an MPN that is characterized by excessive scar-type tissue in the bone marrow. (ucsfhealth.org)
- Myelofibrosis is bone marrow cancer that results in formation of fibrous scar tissue and can lead to thrombocytopenia and anemia, weakness, fatigue and an enlarged spleen and liver. (eturbonews.com)
- One group of those are the myeloproliferative neoplasms, which includes essential thrombocythemia, a disease named for having too many platelets, polycythemia vera, a disease named for having too many red blood cells, and myelofibrosis. (curetoday.com)
- This is often found in essential thrombocythaemia, polycythemia vera and primary myelofibrosis. (edu.au)
- His practice is focused on management of patients with acute leukemias, including acute myeloid leukemias (AML) and acute lymphoblastic leukemia (ALL) as well as myeloid neoplasms like myelodisplastic syndromes (MDS) and myeloproliferative neoplasms (MPNs), such as polycythemia vera (PV), essential thrombocythemia (ET), myelofibrosis (MF), and chronic myeloid leukemia (CML) among others. (yale.edu)
- Primary myelofibrosis, also known as idiopathic myelofibrosis and agnogenic myeloid metaplasia, is a malignant disease, one of the chronic myeloproliferative neoplasms, along with polycythemia vera and essential thrombocythemia, amongst others (see table 1). (fcarreras.org)
- Primary myelofibrosis is characterised by the presence of a fibrous tissue in the bone marrow, and by the migration of bone marrow stem cells to the blood, where they colonise organs from a distance (mainly the spleen and the liver). (fcarreras.org)
- A proportion of patients with polycythemia vera and essential thrombocythemia will, over the course of time, develop symptoms of bone marrow fibrosis indistinguishable from that in primary myelofibrosis. (fcarreras.org)
- The most common (classic) MPNs are chronic myeloid leukemia ( CML ), essential thrombocythemia (ET), polycythemia vera (PV), and primary myelofibrosis (PMF). (amboss.com)
- Primary myelofibrosis: this condition causes scar tissue to grow inside the bone marrow. (massgeneral.org)
- MPN Research Foundation has a single goal: to stimulate original research in pursuit of new treatments - and eventually a cure - for polycythemia vera, essential thrombocythemia, and myelofibrosis, known collectively as myeloproliferative neoplasms (MPNs). (mpnresearchfoundation.org)
- The majority of patients with Polycythemia Vera (PV), Essential Thrombocythemia (ET), and Primary Myelofibrosis (PMF) have a mutation in the JAK2 , CALR , or MPL gene, and genetic testing is an important tool for the classification and diagnosis of these disorders. (genlabus.com)
- Myelofibrosis can happen on its own (primary myelofibrosis) or it can develop from another bone marrow disorder (secondary myelofibrosis). (genlabus.com)
- Myelofibrosis causes extensive scarring in the bone marrow, leading to severe anemia that can cause weakness and fatigue. (genlabus.com)
- Appropriate genetic testing affects the treatment outcomes of patients, including those with Polycythemia Vera (PV), Essential Thrombocythemia (ET) , and Primary Myelofibrosis (PMF) . (genlabus.com)
- The World Health Organization (WHO) classifies polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) as Ph-negative MPNs. (cancernetwork.com)
- Some of the MPNs most commonly associated with JAK2 mutations are: Polycythaemia vera, Essential thrombocythemia and Primary myelofibrosis. (metropolisindia.com)
- 2005). In addition, about half of patients with the closely related blood diseases, essential thrombocythemia (ET) and primary myelofibrosis (PMF), also carry the JAK21 m utation (Baxter et al. (cdc.gov)
Polycythemia7
- Polycythemia vera develops slowly when bone marrow produces too many red blood cells. (mskcc.org)
- Bone marrow fibrosis is also detected in the spent phase of chronic myelogenous leukemia and polycythemia vera. (medscape.com)
- Those with essential thrombocythemia and polycythemia vera have "thick" blood that is more prone to clotting and is associated with heart attacks, strokes and clots in leg veins. (ucsfhealth.org)
- Low dose chemotherapy pills, such as hydrea, can be given to patients with essential thrombocythemia and polycythemia vera to lower their platelet and red blood cell counts. (ucsfhealth.org)
- Driver mutations among very young patients with (A) essential thrombocythemia (n=206) or (B) polycythemia vera (n=55). (capsulehealth.one)
- Characteristics and outcomes of patients with essential thrombocythemia or polycythemia vera diagnosed before 20 years of age: a systematic review. (capsulehealth.one)
- In Polycythemia Vera the bone marrow makes too many red blood cells. (genlabus.com)
Platelets26
- In this condition, faulty stem cells in the bone marrow make too many platelets. (nih.gov)
- In addition to the bone marrow making too many platelets, the platelets also are abnormal in primary thrombocythemia. (nih.gov)
- Although the platelet count is high in secondary thrombocytosis, the platelets are normal (unlike in primary thrombocythemia). (nih.gov)
- I have essential thrombocythemia ( a bone marrow chronic disorder with overproduction of platelets) and with mildly enlarged spleen. (abchomeopathy.com)
- It can develop as a reaction to essential thrombocythaemia (overproduction of platelets, components that help the blood to clot). (europa.eu)
- Essential thrombocythemia, also known as primary thrombocythemia, is a rare blood disease characterized by an overproduction of platelets in the bone marrow. (vejthani.com)
- Symptoms of essential thrombocythemia can vary among individuals as it progresses gradually, leading to increased production of platelets in the bone marrow and elevated platelet levels. (vejthani.com)
- Myeloproliferative neoplasms are a group of diseases of the bone marrow characterized by excessive production of red blood cells, platelets, or certain white blood cells. (merck.com)
- Essential thrombocythemia or excess production of platelets. (apollohospitals.com)
- essential thrombocythemia refers to the abnormal overproduction of platelets, and chronic myeloid leukemia is generally associated with too many white blood cells. (ucsfhealth.org)
- Essential thrombocythemia (throm-boe-sie-THEE-me-uh) is an uncommon disorder in which your body produces too many platelets. (ahdubai.com)
- Less commonly, essential thrombocythemia may cause bleeding, especially if your platelet count is more than 1 million platelets per microliter of blood. (ahdubai.com)
- In the case of essential thrombocythemia, the bone marrow makes too many cells that create platelets. (ahdubai.com)
- The bone marrow makes all our cells, the red blood cells, the white blood cells and the platelets. (curetoday.com)
- In essential thrombocythemia, or ET, patients have too many platelets, and sometimes they have too many white blood cells, and they might have one of those changes in the genes in JAK2 or in CALR. (curetoday.com)
- Overview of Myeloproliferative Neoplasms Myeloproliferative neoplasms are clonal proliferations of bone marrow stem cells, which can manifest as an increased number of platelets, red blood cells (RBCs), or white blood cells (WBCs). (msdmanuals.com)
- Whether the risk of large vessel thrombosis causing deep venous thrombosis or pulmonary embolism is increased in essential thrombocythemia is unclear, particularly because platelets are primarily involved in arterial thrombosis and there is no correlation between the platelet count and large vessel thrombosis. (msdmanuals.com)
- Here there is an overproduction of platelets by megakaryocytes in the bone marrow. (naturalayurvedictreatment.com)
- Megakaryocytes are present in the bone marrow and on maturity, they liberate large no. of platelets into the blood. (drvikram.com)
- Essential thrombocythemia is a disease in which too many platelets (thrombocytes) in the blood. (mnoncology.com)
- This abnormal increase in the number of platelets in the blood is due to increased production by the bone marrow. (mnoncology.com)
- Essential thrombocythemia: this is a condition where there are too many platelets in the blood. (massgeneral.org)
- In Essential Thrombocythemia (also called primary thrombocythemia) the body produces too many platelets. (genlabus.com)
- Bone marrow scarring can also cause a low number of blood-clotting cells called platelets, which increases the risk of bleeding. (genlabus.com)
- The bone marrow disorders caused JAK2 mutations are known as myeloproliferative neoplasms (MPNs) in which the bone marrow produces way too many WBCs, RBCs and Platelets. (metropolisindia.com)
- 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)
Biopsy6
- Bone marrow aspiration and biopsy with cytogenetic studies are required in most, but not all, patients. (medscape.com)
- A bone marrow biopsy is performed to confirm a diagnosis of MPN. (ucsfhealth.org)
- Bone marrow biopsy. (ahdubai.com)
- For diagnosis it is essential to perform a bone marrow analysis and biopsy. (fcarreras.org)
- After the bone marrow biopsy, the diagnosis was clear - Essential Thrombocythemia (ET). (aop-health.com)
- A). Bone marrow biopsy showed increased megakaryocytes mimicking essential thrombocythemia. (bvsalud.org)
JAK26
- However, better understanding of the role of increased JAK-STAT signaling [either through activating mutations ( JAK2 , MPL515L/K ) within the signaling pathway, or mutations involving CALR ], the role of deregulated pro-inflammatory cytokine expression, and the impaired bone marrow microenvironment is transforming the treatment approach for MF. (haematologica.org)
- Specifically, the mutations affect the genes JAK2, CALR, and MPL, which are responsible for regulating the production of blood cells in the bone marrow. (vejthani.com)
- We believe what occurs is that in the bone marrow, one of the key genes that is kind of like the operating system on a computer, called JAK2 (Janus kinase 2), is broken, or is mutated. (curetoday.com)
- The aim of this study is to analyze the phenotypic divergence between polycytemia vera (PV) and essential thrombocytemia (ET) to find novel therapeutics targets by a proteomic and functional approach to identify alternative routes to JAK2 activation. (biomedcentral.com)
- The GIA stat MPN panel rapidly and qualitatively detects mutations in JAK2 , CALR and MPL genes utilizing High Resolution Melt Analysis (HRM) from a whole blood or bone marrow specimen. (genlabus.com)
- Hereditary thrombocythemia (HT) is caused by a germline mutation of THPO, MPL, or JAK2 and is inherited in an autosomal-dominant manner. (bvsalud.org)
MPNs5
- Myeloproliferative neoplasms (MPNs) are bone marrow diseases characterized by excess clonal hematopoiesis resulting in elevated peripheral blood counts. (researchgate.net)
- Imago is a clinical stage biopharmaceutical company developing new medicines for the treatment of myeloproliferative neoplasms (MPNs) and other bone marrow diseases. (merck.com)
- Myeloproliferative neoplasms, or MPNs - also called myeloproliferative disorders, or MPDs - are a collection of blood disorders that are believed to be caused by mutations in bone marrow stem cells. (ucsfhealth.org)
- MPNs develop in the bone marrow of the patients which produce too many blood cells. (aop-health.com)
- To aid diagnose bone marrow disorders called as myeloproliferative neoplasms (MPNs) in which the bone marrow creates too many of one or more types of blood cells. (metropolisindia.com)
Spleen4
- This progressive disorder results in bone marrow scarring, leading to severe anemia and enlargement of your liver and spleen. (ahdubai.com)
- In large spleen, sometimes the bone marrow has scarring and there are not enough blood cells being produced. (curetoday.com)
- Alternatively, to compensate for decreased blood cell production in bone marrow, both liver and spleen start doing this work. (naturalayurvedictreatment.com)
- Extramedullary hematopoiesis (EMH) is likely the result of abnormal trafficking of hematopoietic stem cells (HSC) from the bone marrow to organs such as the spleen, liver, and lung, causing organomegaly and sometimes organ dysfunction. (cancernetwork.com)
Thrombocytosis1
- Compared with essential thrombocythemia, secondary thrombocytosis causes less risk of blood clots and bleeding. (ahdubai.com)
Diagnosis2
- Although a bone marrow examination isn't strictly necessary to make a diagnosis, doctors often use it to help confirm a ET diagnosis. (lls.org)
- He or she will rule out all other causes of high platelet counts to confirm a diagnosis of essential thrombocythemia. (ahdubai.com)
Night sweats1
- The clinical course of individuals with MF is characterized by constitutional symptoms (fevers, night sweats, and weight loss), bone marrow myeloproliferation and reticulin/collagen fibrosis, worsening cytopenias, thrombosis, and progressive symptomatic splenomegaly. (cancernetwork.com)
Neoplasm1
- Essential thrombocythemia (ET) is a myeloproliferative neoplasm characterized by an increased platelet count, megakaryocytic hyperplasia, and a hemorrhagic or microvascular vasospastic tendency. (msdmanuals.com)
Failure syndromes1
- He also provides care for patients with aplastic anemia and bone marrow failure syndromes and follows patients with clonal hematopoiesis of indeterminate potential (CHIP), and systemic mastocytosis and hypereosinophilic syndrome. (yale.edu)
Mutations2
- Essential thrombocythemia is considered an acquired genetic condition, meaning it occurs when specific genes undergo mutations or changes. (vejthani.com)
- In summary, the mutations in these genes lead to an abnormal increase in platelet production, exceeding the body's needs, and resulting in essential thrombocythemia. (vejthani.com)
Abnormal2
- This overproduction is due to an abnormal mutation in a stem cell in the bone marrow. (naturalayurvedictreatment.com)
- mutation), and one of three minor criteria: a low serum EPO level, an abnormal bone marrow histology exhibiting trilineage hyperplasia, or the presence of in vitro endogenous erythroid colony formation. (cdc.gov)
Disorders5
- When this process occurs without other blood cell disorders, it's called essential thrombocythemia. (nih.gov)
- Bone marrow histology shows hypercellularity in most of these disorders. (medscape.com)
- Myeloproliferative disorders - sometimes called myeloproliferative neoplasms - are cancer-like diseases in which too many blood cells are produced in the bone marrow. (edu.au)
- In myeloproliferative disorders, the bone marrow produces excessive numbers of mature blood cells that function normally, but are present in greater-than-normal numbers. (edu.au)
- Chronic Myeloproliferative Disorders, also called Myeloproliferative Neoplasms, are a group of diseases in which the bone marrow makes too many blood cells. (massgeneral.org)
Fibrosis8
- Increased expression of inflammatory cytokines, lysyl oxidase, transforming growth factor-β, impaired megakaryocyte function, and aberrant JAK-STAT signaling have all been implicated in the pathogenesis of bone marrow fibrosis. (haematologica.org)
- A number of studies indicate that bone marrow fibrosis is an adverse prognostic variable in myeloproliferative neoplasms. (haematologica.org)
- Here we review the pathogenesis, biological consequences, and prognostic impact of bone marrow fibrosis. (haematologica.org)
- Bone marrow fibrosis (BMF) is characterized by the increased deposition of reticulin fibers and in some cases collagen fibers. (haematologica.org)
- European consensus on the grading of bone marrow fibrosis. (haematologica.org)
- Conditions associated with bone marrow fibrosis. (haematologica.org)
- It is a condition in which the body's bone marrow starts being overactive thereby leads to the formation of scar tissue called fibrosis. (naturalayurvedictreatment.com)
- The clinical course of individuals with MF is heterogeneous and characterized by constitutional symptoms, bone marrow myeloproliferation and fibrosis, progressive cytopenias, and symptomatic splenomegaly. (cancernetwork.com)
Spongy3
- Bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. (medlineplus.gov)
- That means your bone marrow, the spongy tissue inside your bones, makes too many of a certain type of cell. (ahdubai.com)
- The bone marrow is the soft spongy center of bone. (massgeneral.org)
Chronic myeloproliferative1
- Essential thrombocythemia is a type of chronic myeloproliferative disorder. (ahdubai.com)
Stem5
- This is a complex procedure where the patient receives stem cells from a matched donor to help restore the bone marrow. (europa.eu)
- LSD1 regulates the maturation of bone marrow stem cells and is essential for the differentiation of progenitor cells into mature megakaryocytes and granulocytes and production of blood cells. (merck.com)
- Bone marrow stem cell transplantation. (apollohospitals.com)
- In these diseases the stem cells in the bone marrow, responsible for producing all the blood cells, have acquired a genetic defect which makes them produce one of the myeloid lineage blood cells in an uncontrolled manner. (fcarreras.org)
- Essential thrombocythemia is a clonal hematopoietic stem cell disorder that causes increased platelet production. (msdmanuals.com)
Produced in the bone ma1
- Too much fibrous tissue produced in the bone marrow, preventing normal blood production. (edu.au)
Thrombosis1
- 6 Causes of early death include leukemic transformation, complications arising from progressive bone marrow failure, portal/pulmonary hypertension, infections, thrombosis and bleeding. (haematologica.org)
Platelet count1
- In some cases, individuals with essential thrombocythemia (ET) and an exceptionally elevated platelet count may experience bleeding as a result of the condition. (vejthani.com)
Thrombopoietin1
- Thrombopoietin (THPO) is an essential factor for platelet production. (bvsalud.org)
Diseases3
- Causes of bone marrow diseases include genetics and environmental factors. (medlineplus.gov)
- Tests for bone marrow diseases include blood and bone marrow tests. (medlineplus.gov)
- Now, there's a whole range of different diseases that can occur in the bone marrow. (curetoday.com)
Blood cells12
- Evidence indicates that LSD1 plays an important role in the maturation of blood cells in the bone marrow," said Dr. Dean Y. Li, president, Merck Research Laboratories. (merck.com)
- Chronic Myelomonocytic Leukemia (CMML) is a type of leukemia that is characterized by high numbers of white blood cells, called "monocytes", in the blood and bone marrow. (menarini.com)
- It forms in tissue such as bone marrow and causes blood cells to be produced and enter the bloodstream. (cancersupportcommunity.org)
- Acute lymphocytic leukemia (ALL), sometimes called acute lymphoblastic leukemia, is a type of cancer that begins in the immature white blood cells in the bone marrow, the hollow space inside of your bones where blood is made. (cancersupportcommunity.org)
- The leukemia cells do not function like normal blood cells, and they grow quickly inside the bone marrow, overtaking the space there. (cancersupportcommunity.org)
- These genetic changes cause over-active signalling in bone marrow cells, resulting in uncontrolled production of blood cells. (edu.au)
- Myeloproliferative Neoplasms are basically Blood Cancers that occur due to overproduction of Blood cells in the bone marrow which can thereby create problems in blood flow. (naturalayurvedictreatment.com)
- The formation of this scar tissue inside the bone marrow impedes the development of blood cells and therefore results in decreased production of blood cells. (naturalayurvedictreatment.com)
- It is a slowly progressing blood cancer characterized by overproduction of red blood cells (RBC's) by the bone marrow thereby resulting in slowing of blood flow due to an increase in a number of red blood cells. (naturalayurvedictreatment.com)
- The disease gets worse slowly as the number of extra blood cells build up in the blood and bone marrow. (massgeneral.org)
- The type is based on the kind of extra blood cells made by the bone marrow. (massgeneral.org)
- It may cause your bone marrow to make too few numbers of all blood cells. (massgeneral.org)
World Health Organ1
- The diagnostic approach proposed by the World Health Organization (WHO) uses clinical features, bone marrow (BM) morphology, karyotype and molecular genetic tests to classify MPN su. (researchgate.net)
Occurs1
- Essential thrombocythemia usually occurs wiith increased incidence after age 50. (msdmanuals.com)
Marrow histology1
- For patients having one of the two abnormalities, further testing was advised, including bone marrow histology and simultaneous red cell mass/plasma volume measurement. (cdc.gov)