Mastocytosis
Mastocytosis, Systemic
Mastocytosis, Cutaneous
Urticaria Pigmentosa
Tryptases
Proto-Oncogene Proteins c-kit
Mast Cells
Leukemia, Mast-Cell
Bone Marrow
Methylhistamines
Chymases
Trichinella spiralis
Anaphylaxis
Trichinellosis
Interleukin-9
Intestinal Diseases, Parasitic
Hydroxyzine
Prostaglandins D
Trematoda
Stem Cell Factor
Interleukin-5 Receptor alpha Subunit
Arthropod Venoms
Biopsy
CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy. (1/111)
Imatinib mesylate is effective in the treatment of hematologic malignancies that are characterized by either abl- or PDGFR beta- activating mutations. The drug is also active in a subset of patients with eosinophilic disorders and systemic mast cell disease (SMCD). Recently, a novel tyrosine kinase that is generated from fusion of the Fip1-like 1 (FIP1L1) and PDGFR alpha (PDGFRA) genes has been identified as a therapeutic target for imatinib mesylate in hypereosinophilic syndrome (HES). We used fluorescence in situ hybridization (FISH) to detect deletion of the CHIC2 locus at 4q12 as a surrogate for the FIP1L1-PDGFRA fusion. CHIC2 deletion was observed in bone marrow cells for 3 of 5 patients with SMCD associated with eosinophilia. Deletion of this locus and expression of the FIP1L1-platelet-derived growth factor receptor alpha (PDGFRA) fusion was also documented in enriched eosinophils, neutrophils, or mononuclear cells by both FISH and reverse transcriptase-polymerase chain reaction (RT-PCR) for one patient. While all 3 patients with the FIP1L1-PDGFRA rearrangement achieved a sustained complete response with imatinib mesylate therapy, the other two, both carrying the c-kit Asp816 to Val (Asp816Val) mutation, did not. These observations suggest that the FIP1L1-PDGFRA rearrangement occurs in an early hematopoietic progenitor and suggests that the molecular pathogenesis for a subset of SMCD patients is similar to that of HES. Screening for the FIP1L1-PDGFRA rearrangement and Asp816Val mutation will advance rational therapy decisions in SMCD. (+info)Cladribine therapy for systemic mastocytosis. (2/111)
Patients with systemic mastocytosis (SM) can suffer from disabling symptoms related to mast cell mediator release or mast cell infiltration, requiring mast cell eradication. In the present absence of any curative therapy, a recent case report describing the efficacy of cladribine showed promising results. In a pilot study, the efficacy of cladribine (0.10-0.13 mg/kg in a 2-hour infusion, days 1-5; repeated at 4-8 weeks until 6 cycles) was studied. Ten patients with SM with severe symptoms were treated. Four patients were classified as having indolent or smoldering mastocytosis, 3 as having aggressive systemic mastocytosis, and 3 as having SM with an accompanying hematologic malignancy. Nine patients received 6 courses, 1 patient stopped because of toxicodermia. All responded concerning signs, symptoms, and mast cell parameters (serum tryptase and urinary histamine metabolite excretion), although none achieved a complete remission. Prolonged follow-up is required, as response is ongoing in most cases. One patient relapsed within 11 months and showed a second response. Side effects were mainly related to bone marrow suppression. Single-agent cladribine is an effective and relatively safe treatment for severe systemic mastocytosis. The optimal dose and schedule need to be explored. (+info)Expression of Bcl-2 and Bcl-xL in cutaneous and bone marrow lesions of mastocytosis. (3/111)
Mastocytosis is a rare disease characterized by accumulation of mast cells in tissues. To investigate whether an altered regulation of mast cell apoptosis might be involved in the pathogenesis of mastocytosis, expression of the apoptosis-preventing molecules bcl-2 and bcl-xL was studied by immunohistochemistry in skin and bone marrow lesions of mastocytosis patients. In addition, reverse transcription-polymerase chain reaction was used to investigate levels of bcl-2 and bcl-xL mRNA in cutaneous mastocytosis lesions. Since activating mutations of c-kit are known to be associated with some forms of mastocytosis, human mast cell cultures were also stimulated via c-kit and the expression of bcl-2 and bcl-xL was assessed by immunoblotting. In patients with mastocytosis, the expression of bcl-2 protein but not bcl-xL in cutaneous mast cells was significantly enhanced, compared to healthy controls. Evaluating different subgroups of adult and pediatric mastocytosis patients, all groups were found to express significantly increased levels of bcl-2 protein, and none of the patient groups was found to overexpress bcl-xL, with the exception of solitary mastocytomas that showed a tendency for up-regulated bcl-xL protein. Furthermore, the expression of bcl-2 mRNA was significantly enhanced in cutaneous lesions of adult and pediatric patients, while bcl-xL mRNA levels were only slightly increased in pediatric, but not in adult patients with mastocytosis. In contrast to the skin lesions, bone marrow infiltrates of patients with systemic mastocytosis showed only low or absent immunoreactivity for bcl-2, but marked expression of bcl-xL. In vitro, stimulation of two different mast cell culture systems by activation of c-kit resulted in up-regulation of bcl-2 and also in an increase of bcl-xL, although less pronounced. Thus, overexpression of bcl-2 and bcl-xL leading to prolonged survival of mast cells may contribute to the pathogenesis of mastocytosis. Our findings may help to develop new strategies for the treatment of this disease. (+info)17-Allylamino-17-demethoxygeldanamycin (17-AAG) is effective in down-regulating mutated, constitutively activated KIT protein in human mast cells. (4/111)
Mutations in the proto-oncogene c-kit cause constitutive kinase activity of its product, KIT protein, and are associated with human mastocytosis and gastrointestinal stromal tumors (GISTs). Although currently available tyrosine kinase inhibitors are effective in the treatment of GISTs, there has been limited success in the treatment of mastocytosis. 17-Allylamino-17-demethoxygeldanamycin (17-AAG), a benzoquinoid ansamycin antibiotic, which binds to heat shock protein 90 (hsp90) causes destabilization of various hsp90-dependent kinases important in oncogenesis. Treatment with 17-AAG of the mast cell line HMC-1.2, harboring the Asp816Val and Val560Gly KIT mutations, and the cell line HMC-1.1, harboring a single Val560Gly mutation, causes both the level and activity of KIT and downstream signaling molecules AKT and STAT3 to be down-regulated following drug exposure. These data were validated using Cos-7 cells transfected with wild-type and mutated KIT. 17-AAG promotes cell death of both HMC mast cell lines. In addition, neoplastic mast cells isolated from patients with mastocytosis, incubated with 17-AAG ex vivo, are selectively sensitive to the drug compared to the mononuclear fraction. These data provide compelling evidence that 17-AAG may be effective in the treatment of c-kit-related diseases including mastocytosis, GISTs, mast cell leukemia, subtypes of acute myelogenous leukemia, and testicular cancer. (+info)Bone marrow biopsies for the diagnosis of systemic mastocytosis: is one biopsy sufficient? (5/111)
The medical records of 21 patients evaluated for mastocytosis and 2 patients seen for follow-up of known mastocytosis who underwent bilateral iliac crest aspirations and biopsies were reviewed retrospectively to determine whether mastocytosis could be confirmed in each of a patient's biopsy specimens. In 19 cases (83%), each biopsy specimen showed evidence of mastocytosis; however in 4 cases (17%), only 1 of 2 biopsy sites revealed mastocytosis. Compared with the 4 patients with only a unilateral positive biopsy result, the bilateral group had significantly higher urinary excretion of 11beta-prostaglandin F2alpha, higher serum tryptase levels, and higher serum calcitonin values, and a higher percentage had splenomegaly (37% [7/19] vs 0% [0/4]). The 2 groups could not be distinguished by the main initial symptom(s), presence of urticaria pigmentosa, or other laboratory findings (alkaline phosphatase, aspartate transaminase, or hemoglobin concentrations or total WBC, total eosinophil, or platelet counts). Bilateral biopsies might be useful for diagnosing early systemic mastocytosis or detecting minimal bone marrow involvement. (+info)A novel form of mastocytosis associated with a transmembrane c-kit mutation and response to imatinib. (6/111)
Mutational analysis of the c-kit gene in a patient with a previously undescribed variant of mast cell disease revealed a germline mutation, Phe522Cys, within the transmembrane portion of the Kit receptor protein. Transfection experiments revealed that the mutation caused ligand-independent autophosphorylation of Kit, which was inhibited by the tyrosine kinase inhibitor imatinib mesylate. The patient's bone marrow biopsy and aspirate displayed unique pathologic features with the presence of excessive numbers of mature-appearing mast cells and absence of aberrant mast cell surface expression of CD2, CD25, and CD35. Therapy with imatinib mesylate resulted in a dramatic improvement in mast cell burden and clinical symptoms. These results highlight the significance of the transmembrane region of Kit in activation of the molecule and its importance in mast cell development and suggest a role for screening for transmembrane c-kit mutations in patients with mastocytosis in association with the decision to use imatinib mesylate. (+info)Systemic mastocytosis with associated clonal haematological non-mast cell lineage diseases: a histopathological challenge. (7/111)
AIMS: Although systemic mastocytosis (SM) with an associated clonal haematological non-mast cell lineage disease (SM-AHNMD) is a major subtype of SM, little is known about its frequency among myelogenous neoplasms, and mastocytosis in particular, or about AHNMD subtype frequencies. METHODS: Approximately 19500 routine bone marrow biopsies were evaluated. Immunostaining with antibodies against tryptase, KIT, and CD25 and molecular analysis for detection of C-KIT point mutations were performed in approximately 550/4100 myelogenous malignancies including mastocytosis, almost all subtypes of myelodysplastic syndrome (MDS), myelodysplastic/myeloproliferative syndrome (MDS/MPD), MPD, and acute myeloid leukaemia (AML). RESULTS: SM was rare-it was diagnosed in only 64 bone marrows (0.3%) and made up 1.5% of myelogenous tumours. SM-AHNMD was the second most frequent subtype (20). SM-AHNMD was never included in the clinical differential diagnoses and was confirmed histologically in most cases only after appropriate immunostaining. The abnormal mast cell phenotype was confirmed by immunohistochemical demonstration of tryptase and CD25 coexpression. The following associated haematological neoplasms were found: MDS/MPS, AML, MPS, MDS, plasma cell myeloma, and unclassifiable myelogenous malignancy. C-KIT point mutations were detected in 16 of 20 cases. CONCLUSIONS: SM-AHNMD can be diagnosed histologically in bone marrow trephines only after immunostaining with antibodies against tryptase, KIT, and CD25. Eighteen of 20 AHNMDs were of myeloid origin. C-KIT point mutations were present in 16 of 20 cases. The prognostic relevance of detecting SM associated with another haematological neoplasm remains unclear, but mast cell resistance to most cytoreductive agents is of major importance for treatment planning. (+info)FIP1L1-PDGFRA and c-kit D816V mutation-based clonality studies in systemic mast cell disease associated with eosinophilia. (8/111)
Laboratory methods to detect both FIP1L1-PDGFRA and c-kit D816V mutations were combined with immunomagnetic cell separation to study the extent of clonal involvement by both myeloid and lymphoid cells in 3 patients with systemic mastocytosis associated with eosinophilia. The results suggested an early stem cell origin for the FIP1L1-PDGFRA mutation. (+info)Mastocytosis is a group of rare disorders caused by the accumulation of abnormal number of mast cells in various tissues of the body, particularly the skin and internal organs such as the bone marrow, liver, spleen, and gastrointestinal tract. Mast cells are types of white blood cells that play an important role in the immune system, releasing chemicals like histamine, heparin, and leukotrienes during allergic reactions or injury to help protect the body. However, excessive accumulation of mast cells can lead to chronic inflammation, tissue damage, and various symptoms.
There are two main types of mastocytosis: cutaneous mastocytosis (CM) and systemic mastocytosis (SM). CM primarily affects the skin, causing redness, itching, hives, and other skin abnormalities. SM, on the other hand, involves internal organs and can be more severe, with symptoms such as diarrhea, stomach pain, fatigue, bone pain, and anaphylaxis (a life-threatening allergic reaction).
Mastocytosis is typically caused by genetic mutations that lead to the overproduction of mast cells. The diagnosis of mastocytosis usually involves a combination of physical examination, medical history, blood tests, skin biopsy, and bone marrow aspiration. Treatment options depend on the type and severity of the disease and may include antihistamines, corticosteroids, chemotherapy, targeted therapy, and in severe cases, stem cell transplantation.
Systemic mastocytosis is a rare group of diseases characterized by the accumulation of abnormal number of mast cells in various organs and tissues of the body. Mast cells are a type of white blood cell that plays an important role in the immune system, particularly in allergic reactions and inflammation. In systemic mastocytosis, the excessive buildup of mast cells can cause a range of symptoms such as skin rashes, itching, gastrointestinal disturbances, bone pain, and in severe cases, organ damage or failure.
The diagnosis of systemic mastocytosis typically involves a combination of clinical evaluation, laboratory tests, imaging studies, and sometimes biopsies to confirm the presence of abnormal mast cells. Treatment for systemic mastocytosis depends on the severity and extent of the disease, but may include medications to manage symptoms, reduce mast cell activation and proliferation, and prevent complications. In some cases, cytoreductive therapies such as chemotherapy or stem cell transplantation may be recommended.
Cutaneous mastocytosis is a condition characterized by the abnormal accumulation of mast cells in the skin. Mast cells are a type of immune cell that releases chemicals such as histamine, heparin, and leukotrienes, which play a role in allergic reactions and inflammation. In cutaneous mastocytosis, the excessive buildup of mast cells can cause various skin symptoms, including redness, itching, swelling, and formation of lesions or tumors.
The condition is typically divided into several subtypes based on the age of onset and the clinical presentation. The most common form in children is called urticaria pigmentosa, which presents as small, reddish-brown spots or bumps that may become raised and itchy when scratched or rubbed (Darier's sign). In adults, a more severe form known as diffuse cutaneous mastocytosis can occur, where the entire skin becomes thickened, red, and swollen.
Cutaneous mastocytosis is usually diagnosed based on the patient's medical history, physical examination, and results from skin biopsies. Treatment typically focuses on relieving symptoms and preventing mast cell activation. Medications such as antihistamines, topical steroids, and mast cell stabilizers may be used to control itching, flushing, and other symptoms associated with the condition. In some cases, systemic therapies or phototherapy may also be recommended.
Urticaria pigmentosa is a rare mast cell disorder, characterized by the development of brownish-red, raised lesions (maculopapules) on the skin. These lesions are often found on the trunk and proximal extremities, but can occur anywhere on the body. They are typically asymptomatic, but may become itchy or even painful when subjected to friction, heat, or emotional stress. In some cases, these lesions may also release histamine, leading to symptoms such as flushing, headache, and hypotension. Urticaria pigmentosa is more common in children than adults, and typically resolves on its own over time. However, in some cases it can persist into adulthood or even progress to systemic mastocytosis, a more severe form of the disorder that can affect internal organs.
Tryptase is a type of enzyme that is found in the cells called mast cells, which are a part of the immune system. Specifically, tryptase is a serine protease, which means it helps to break down other proteins in the body. Tryptase is often released during an allergic reaction or as part of an inflammatory response. It can be measured in the blood and is sometimes used as a marker for mast cell activation or degranulation. High levels of tryptase may indicate the presence of certain medical conditions, such as systemic mastocytosis or anaphylaxis.
Proto-oncogene proteins c-kit, also known as CD117 or stem cell factor receptor, are transmembrane receptor tyrosine kinases that play crucial roles in various biological processes, including cell survival, proliferation, differentiation, and migration. They are encoded by the c-KIT gene located on human chromosome 4q12.
These proteins consist of an extracellular ligand-binding domain, a transmembrane domain, and an intracellular tyrosine kinase domain. The binding of their ligand, stem cell factor (SCF), leads to receptor dimerization, autophosphorylation, and activation of several downstream signaling pathways such as PI3K/AKT, MAPK/ERK, and JAK/STAT.
Abnormal activation or mutation of c-kit proto-oncogene proteins has been implicated in the development and progression of various malignancies, including gastrointestinal stromal tumors (GISTs), acute myeloid leukemia (AML), mast cell diseases, and melanoma. Targeted therapies against c-kit, such as imatinib mesylate (Gleevec), have shown promising results in the treatment of these malignancies.
Mast cells are a type of white blood cell that are found in connective tissues throughout the body, including the skin, respiratory tract, and gastrointestinal tract. They play an important role in the immune system and help to defend the body against pathogens by releasing chemicals such as histamine, heparin, and leukotrienes, which help to attract other immune cells to the site of infection or injury. Mast cells also play a role in allergic reactions, as they release histamine and other chemicals in response to exposure to an allergen, leading to symptoms such as itching, swelling, and redness. They are derived from hematopoietic stem cells in the bone marrow and mature in the tissues where they reside.
Mast cell leukemia is a rare and aggressive type of leukemia, which is a cancer of the white blood cells. Specifically, mast cell leukemia affects a particular type of white blood cell called a mast cell. Mast cells are part of the immune system and play a role in allergic reactions and inflammation.
In mast cell leukemia, the bone marrow produces too many immature mast cells, which then enter the bloodstream. These abnormal mast cells can accumulate in various organs, such as the spleen, liver, and lymph nodes, causing damage and enlargement of these organs.
Symptoms of mast cell leukemia may include fatigue, weight loss, frequent infections, easy bruising or bleeding, bone pain, and enlarged lymph nodes. Diagnosis typically involves blood tests, bone marrow aspiration and biopsy, and imaging studies to assess the extent of organ involvement.
Mast cell leukemia is a very aggressive cancer with a poor prognosis, and treatment options are limited. Current treatments may include chemotherapy, stem cell transplantation, and targeted therapy with drugs that target specific molecular abnormalities in mast cells. However, the response to treatment is often not durable, and the disease can progress rapidly.
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.
Methylhistamines are not a recognized medical term or a specific medical condition. However, the term "methylhistamine" may refer to the metabolic breakdown product of the antihistamine drug, diphenhydramine, which is also known as N-methyldiphenhydramine or dimenhydrinate.
Diphenhydramine is a first-generation antihistamine that works by blocking the action of histamine, a chemical released during an allergic reaction. When diphenhydramine is metabolized in the body, it is converted into several breakdown products, including methylhistamines.
Methylhistamines are not known to have any specific pharmacological activity or clinical significance. However, they can be used as a marker for the presence of diphenhydramine or its metabolism in the body.
Chymases are a type of enzyme that belong to the family of serine proteases. They are found in various tissues and organs, including the heart, lungs, and immune cells called mast cells. Chymases play a role in several physiological and pathological processes, such as inflammation, tissue remodeling, and blood pressure regulation.
One of the most well-known chymases is found in the mast cells and is often referred to as "mast cell chymase." This enzyme can cleave and activate various proteins, including angiotensin I to angiotensin II, a potent vasoconstrictor that increases blood pressure. Chymases have also been implicated in the development of cardiovascular diseases, such as hypertension and heart failure, as well as respiratory diseases like asthma and chronic obstructive pulmonary disease (COPD).
In summary, chymases are a group of serine protease enzymes that play important roles in various physiological and pathological processes, particularly in inflammation, tissue remodeling, and blood pressure regulation.
A bone marrow examination is a medical procedure in which a sample of bone marrow, the spongy tissue inside bones where blood cells are produced, is removed and examined. This test is used to diagnose or monitor various conditions affecting blood cell production, such as infections, leukemia, anemia, and other disorders of the bone marrow.
The sample is typically taken from the hipbone (iliac crest) or breastbone (sternum) using a special needle. The procedure may be done under local anesthesia or with sedation to minimize discomfort. Once the sample is obtained, it is examined under a microscope for the presence of abnormal cells, changes in cell size and shape, and other characteristics that can help diagnose specific conditions. Various stains, cultures, and other tests may also be performed on the sample to provide additional information.
Bone marrow examination is an important diagnostic tool in hematology and oncology, as it allows for a detailed assessment of blood cell production and can help guide treatment decisions for patients with various blood disorders.
"Trichinella spiralis" is a species of parasitic roundworm that causes the disease trichinosis in humans. The adult worms live in the intestine, where they produce larvae that migrate to striated muscle tissue, including the diaphragm, tongue, and skeletal muscles, where they encyst and form nurse cells. Infection typically occurs through the consumption of undercooked or raw meat, particularly pork, contaminated with the larvae. Symptoms can range from gastrointestinal disturbances to fever, muscle pain, and potentially life-threatening complications in severe cases. Prevention includes cooking meat thoroughly and freezing it at certain temperatures to kill the larvae.
Anaphylaxis is a severe, life-threatening systemic allergic reaction that occurs suddenly after exposure to an allergen (a substance that triggers an allergic reaction) to which the person has previously been sensitized. The symptoms of anaphylaxis include rapid onset of symptoms such as itching, hives, swelling of the throat and tongue, difficulty breathing, wheezing, cough, chest tightness, rapid heartbeat, hypotension (low blood pressure), shock, and in severe cases, loss of consciousness and death. Anaphylaxis is a medical emergency that requires immediate treatment with epinephrine (adrenaline) and other supportive measures to stabilize the patient's condition.
A mastocytoma is a type of tumor that develops from mast cells, which are a part of the immune system and play a role in allergic reactions and inflammation. Mastocytomas are most commonly found in the skin, but they can also occur in other organs such as the liver, spleen, and lymph nodes.
Mastocytomas are usually benign (non-cancerous), although malignant (cancerous) forms known as mast cell sarcomas can also occur. They typically appear as raised, red or brown lesions on the skin that may be itchy, painful, or bleed easily.
The diagnosis of a mastocytoma is usually made through a biopsy of the tumor, which involves removing a small sample of tissue for examination under a microscope. Treatment options for mastocytomas may include surgical removal, medication to manage symptoms such as itching or flushing, and in some cases, chemotherapy or radiation therapy.
Trichinellosis is a parasitic disease caused by the roundworm Trichinella spiralis. The infection typically occurs when contaminated raw or undercooked meat, often pork, is consumed. After ingestion, the larvae of the worm are released from the cysts in the meat and migrate to the small intestine, where they mature into adults.
The adult females then lay new larvae that penetrate the intestinal wall and travel through the bloodstream to striated muscle tissue (such as skeletal muscles), where they encapsulate and form new cysts. The symptoms of trichinellosis can vary widely, depending on the number of worms ingested and the intensity of infection. Early symptoms may include diarrhea, abdominal pain, nausea, vomiting, and fever. As the larvae migrate to muscle tissue, additional symptoms such as muscle pain, weakness, swelling of the face, eyelids, or tongue, and skin rashes can occur. Severe infections may lead to life-threatening complications, including heart and respiratory failure.
Prevention measures include cooking meat thoroughly (to an internal temperature of at least 160°F or 71°C), freezing meat properly (at -15°F or -26°C for several days) to kill the parasites, and avoiding consumption of raw or undercooked meat, especially from wild animals.
Interleukin-9 (IL-9) is a type of cytokine, which are small signaling proteins that mediate and regulate immunity, inflammation, and hematopoiesis. IL-9 is produced by several types of immune cells, including T cells (a type of white blood cell), mast cells, and eosinophils.
IL-9 plays a role in the development and function of various immune cells, and has been implicated in the pathogenesis of several inflammatory and allergic diseases, such as asthma, atopic dermatitis, and food allergy. It can promote the growth and survival of certain types of immune cells, including mast cells and B cells (another type of white blood cell), and can also enhance their activation and effector functions.
In addition to its role in immunity and inflammation, IL-9 has been shown to play a role in the development and progression of some types of cancer, such as lung cancer and leukemia. However, more research is needed to fully understand the complex functions of this cytokine and its potential as a therapeutic target.
Parasitic intestinal diseases are disorders caused by microscopic parasites that invade the gastrointestinal tract, specifically the small intestine. These parasites include protozoa (single-celled organisms) and helminths (parasitic worms). The most common protozoan parasites that cause intestinal disease are Giardia lamblia, Cryptosporidium parvum, and Entamoeba histolytica. Common helminthic parasites include roundworms (Ascaris lumbricoides), tapeworms (Taenia saginata and Taenia solium), hookworms (Ancylostoma duodenale and Necator americanus), and pinworms (Enterobius vermicularis).
Parasitic intestinal diseases can cause a variety of symptoms, including diarrhea, abdominal pain, bloating, nausea, vomiting, fatigue, and weight loss. The severity and duration of the symptoms depend on the type of parasite, the number of organisms present, and the immune status of the host.
Transmission of these parasites can occur through various routes, including contaminated food and water, person-to-person contact, and contact with contaminated soil or feces. Preventive measures include practicing good hygiene, washing hands thoroughly after using the toilet and before handling food, cooking food thoroughly, and avoiding consumption of raw or undercooked meat, poultry, or seafood.
Treatment of parasitic intestinal diseases typically involves the use of antiparasitic medications that target the specific parasite causing the infection. In some cases, supportive care such as fluid replacement and symptom management may also be necessary.
Hydroxyzine is an antihistamine medication that is primarily used to treat symptoms of allergies such as itching, hives, and swelling. It works by blocking the effects of histamine, a substance in the body that causes allergic reactions. In addition to its antihistaminic properties, hydroxyzine also has sedative and anxiety-reducing effects, which make it useful in treating anxiety disorders, symptoms of alcohol withdrawal, and as a sleep aid. It is available in both oral and injectable forms and is usually taken orally in the form of tablets, capsules, or syrup. As with any medication, hydroxyzine should be used under the supervision of a healthcare provider, and its use may be subject to certain precautions and contraindications depending on the individual's medical history and current health status.
I'm sorry for any confusion, but "Prostaglandins D" is not a recognized or established term in the field of medicine or physiology. Prostaglandins are a group of lipid compounds that are synthesized in the body from fatty acids and have diverse hormone-like effects in the body. They are classified into several types based on their chemical structure and biological activity, including Prostaglandin D (PGD), but referring to "Prostaglandins D" as a single entity is not standard.
Prostaglandin D (PGD) itself is a type of prostaglandin that is rapidly converted to other compounds in the body and has been studied for its potential role in various physiological processes, such as inflammation, fever, and blood flow regulation. However, it's important to note that specific medical definitions or clinical uses related to "Prostaglandins D" are not well-established.
If you have any further questions or need more information about a specific aspect of prostaglandins or their role in the body, I would be happy to help!
Trematode infections, also known as trematodiasis or fluke infections, are parasitic diseases caused by various species of flatworms called trematodes. These parasites have an indirect life cycle involving one or two intermediate hosts (such as snails or fish) and a definitive host (usually a mammal or bird).
Humans can become accidentally infected when they consume raw or undercooked aquatic plants, animals, or contaminated water that contains the larval stages of these parasites. The most common trematode infections affecting humans include:
1. Schistosomiasis (also known as bilharzia): Caused by several species of blood flukes (Schistosoma spp.). Adult worms live in the blood vessels, and their eggs can cause inflammation and damage to various organs, such as the liver, intestines, bladder, or lungs.
2. Liver flukes: Fasciola hepatica and Fasciola gigantica are common liver fluke species that infect humans through contaminated watercress or other aquatic plants. These parasites can cause liver damage, abdominal pain, diarrhea, and eosinophilia (elevated eosinophil count in the blood).
3. Lung flukes: Paragonimus spp. are lung fluke species that infect humans through consumption of raw or undercooked crustaceans. These parasites can cause coughing, chest pain, and bloody sputum.
4. Intestinal flukes: Various species of intestinal flukes (e.g., Haplorchis spp., Metagonimus yokogawai) infect humans through consumption of raw or undercooked fish. These parasites can cause abdominal pain, diarrhea, and eosinophilia.
5. Eye fluke: The oriental eye fluke (Drepanotrema spp.) can infect the human eye through contaminated water. It can cause eye inflammation, corneal ulcers, and vision loss.
Prevention measures include avoiding consumption of raw or undercooked aquatic plants, animals, and their products; practicing good hygiene; and treating drinking water to kill parasites. Treatment typically involves administering anthelmintic drugs such as praziquantel, albendazole, or mebendazole, depending on the specific fluke species involved.
Trematoda is a class of parasitic flatworms, also known as flukes. They have a complex life cycle involving one or more intermediate hosts and a definitive host. Adult trematodes are typically leaf-shaped and range in size from a few millimeters to several centimeters.
They have a characteristic oral sucker surrounding the mouth and a ventral sucker, which they use for locomotion and attachment to their host's tissues. Trematodes infect various organs of their hosts, including the liver, lungs, blood vessels, and intestines, causing a range of diseases in humans and animals.
Examples of human-infecting trematodes include Schistosoma spp., which cause schistosomiasis (also known as bilharzia), and Fasciola hepatica, which causes fascioliasis (liver fluke disease). Trematode infections are typically treated with antiparasitic drugs.
Stem Cell Factor (SCF), also known as Kit Ligand or Steel Factor, is a growth factor that plays a crucial role in the regulation of hematopoiesis, which is the process of producing various blood cells. It is a glycoprotein that binds to the c-Kit receptor found on hematopoietic stem cells and progenitor cells, promoting their survival, proliferation, and differentiation into mature blood cells.
SCF is involved in the development and function of several types of blood cells, including red blood cells, white blood cells, and platelets. It also plays a role in the maintenance and self-renewal of hematopoietic stem cells, which are essential for the continuous production of new blood cells throughout an individual's lifetime.
In addition to its role in hematopoiesis, SCF has been implicated in various other biological processes, such as melanogenesis, gametogenesis, and tissue repair and regeneration. Dysregulation of SCF signaling has been associated with several diseases, including certain types of cancer, bone marrow failure disorders, and autoimmune diseases.
Eosinophilia is a medical condition characterized by an abnormally high concentration of eosinophils in the circulating blood. Eosinophils are a type of white blood cell that play an important role in the immune system, particularly in fighting off parasitic infections and regulating allergic reactions. However, when their numbers become excessively high, they can contribute to tissue damage and inflammation.
Eosinophilia is typically defined as a count of more than 500 eosinophils per microliter of blood. Mild eosinophilia (up to 1,500 cells/μL) may not cause any symptoms and may be discovered during routine blood tests. However, higher levels of eosinophilia can lead to various symptoms such as coughing, wheezing, skin rashes, and organ damage, depending on the underlying cause.
The causes of eosinophilia are varied and can include allergic reactions, parasitic infections, autoimmune disorders, certain medications, and some types of cancer. Accurate diagnosis and treatment of eosinophilia require identification and management of the underlying cause.
The Interleukin-5 Receptor alpha Subunit (IL-5Rα) is a protein that forms part of the Type I cytokine receptor, specifically for the interleukin-5 (IL-5) cytokine. This receptor is found on the surface of hematopoietic cells, such as eosinophils and basophils. The binding of IL-5 to the IL-5Rα subunit initiates intracellular signaling cascades that regulate the growth, activation, differentiation, and survival of eosinophils and basophils, which are crucial in the immune response against parasitic infections and allergic reactions. Mutations in the gene encoding IL-5Rα can lead to altered immune responses and diseases such as hypereosinophilic syndromes.
Arthropod venoms are toxic secretions produced by the venom glands of various arthropods, such as spiders, scorpions, insects, and marine invertebrates. These venoms typically contain a complex mixture of bioactive molecules, including peptides, proteins, enzymes, and small molecules, which can cause a range of symptoms and effects in humans and other animals.
The specific composition of arthropod venoms varies widely depending on the species and can be tailored to serve various functions, such as prey immobilization, defense, or predation. Some arthropod venoms contain neurotoxins that can disrupt nerve function and cause paralysis, while others may contain cytotoxins that damage tissues or hemotoxins that affect the blood and cardiovascular system.
Arthropod venoms have been studied for their potential therapeutic applications, as some of their bioactive components have shown promise in treating various medical conditions, including pain, inflammation, and neurological disorders. However, it is important to note that arthropod venoms can also cause severe allergic reactions and other adverse effects in susceptible individuals, making it essential to exercise caution when handling or coming into contact with venomous arthropods.
A biopsy is a medical procedure in which a small sample of tissue is taken from the body to be examined under a microscope for the presence of disease. This can help doctors diagnose and monitor various medical conditions, such as cancer, infections, or autoimmune disorders. The type of biopsy performed will depend on the location and nature of the suspected condition. Some common types of biopsies include:
1. Incisional biopsy: In this procedure, a surgeon removes a piece of tissue from an abnormal area using a scalpel or other surgical instrument. This type of biopsy is often used when the lesion is too large to be removed entirely during the initial biopsy.
2. Excisional biopsy: An excisional biopsy involves removing the entire abnormal area, along with a margin of healthy tissue surrounding it. This technique is typically employed for smaller lesions or when cancer is suspected.
3. Needle biopsy: A needle biopsy uses a thin, hollow needle to extract cells or fluid from the body. There are two main types of needle biopsies: fine-needle aspiration (FNA) and core needle biopsy. FNA extracts loose cells, while a core needle biopsy removes a small piece of tissue.
4. Punch biopsy: In a punch biopsy, a round, sharp tool is used to remove a small cylindrical sample of skin tissue. This type of biopsy is often used for evaluating rashes or other skin abnormalities.
5. Shave biopsy: During a shave biopsy, a thin slice of tissue is removed from the surface of the skin using a sharp razor-like instrument. This technique is typically used for superficial lesions or growths on the skin.
After the biopsy sample has been collected, it is sent to a laboratory where a pathologist will examine the tissue under a microscope and provide a diagnosis based on their findings. The results of the biopsy can help guide further treatment decisions and determine the best course of action for managing the patient's condition.
Vulvar diseases refer to a range of medical conditions that affect the vulva, which is the external female genital area including the mons pubis, labia majora and minora, clitoris, and the vaginal opening. These conditions can cause various symptoms such as itching, burning, pain, soreness, irritation, or abnormal growths or lesions. Some common vulvar diseases include:
1. Vulvitis: inflammation of the vulva that can be caused by infection, allergies, or irritants.
2. Lichen sclerosus: a chronic skin condition that causes thin, white patches on the vulva.
3. Lichen planus: an inflammatory condition that affects the skin and mucous membranes, including the vulva.
4. Vulvar cancer: a rare type of cancer that develops in the tissues of the vulva.
5. Genital warts: caused by human papillomavirus (HPV) infection, these are small growths or bumps on the vulva.
6. Pudendal neuralgia: a nerve condition that causes pain in the vulvar area.
7. Vestibulodynia: pain or discomfort in the vestibule, the area surrounding the vaginal opening.
It is important to consult a healthcare professional if experiencing any symptoms related to vulvar diseases for proper diagnosis and treatment.
Mastocytosis
Urticaria pigmentosa
Avapritinib
Peter Valent
KIT (gene)
Cromoglicic acid
Mariana Castells
Midostaurin
Organic brain syndrome
Clonal hypereosinophilia
Dermatographic urticaria
Tet methylcytosine dioxygenase 2
Imatinib
Deaths in May 2007
Mastocytoma in dogs
ETV6
Lymphocyte-variant hypereosinophilia
Martin Zenke
Systemic disease
Omalizumab
Lirentelimab
Cancer biomarker
Mast cell leukemia
Osteoporosis
Darier's sign
Hydroxycarbamide
FIP1L1
Anaphylaxis
Budd-Chiari syndrome
TPSAB1
Systemic Mastocytosis: 6 Healthy Habits
Systemic Mastocytosis: Practice Essentials, Background, Pathophysiology
WikiGenes - Mastocytosis, Systemic
Systemic mastocytosis workup - Clinical Advisor
Efficacy and Safety of Midostaurin in Advanced Systemic Mastocytosis - Kölner UniversitätsPublikationsServer
Medical Minute 2: Treatment and Management of Indolent Systemic Mastocytosis, presented by Clinical Care Options (CCO) | CCO
Increase of bone marrow lymphocytes in systemic mastocytosis: reactive lymphocytosis or malignant lymphoma? Immunohistochemical...
Systemic mastocytosis with associated clonal hematological non-mast cell lineage disease: clinical significance and comparison...
Management of labor and delivery by spinal and epidural analgesia in a woman with systemic mastocytosis: a case report -...
Round table discussion: Midostaurin as an emerging therapy in FLT3+ AML in advanced systemic mastocytosis - Vrije...
ASXL1 gene: MedlinePlus Genetics
Recent advances in diagnosis and therapy in systemic mastocytosis. | Read by QxMD
RUNX1 gene: MedlinePlus Genetics
Indolent Systemic Mastocytosis</span>...
Multiple Vertebral Fractures in Young Man as First Manifestation of Systemic Mastocytosis | ReumatologÃa ClÃnica
systemic mastocytosis genetic report - Dante Labs World
Thalidomide in systemic mastocytosis: results from an open-label, multicentre, phase II study. | Read by QxMD
Ayvakit (avapritinib): Cancer Drug Side Effects, Interactions & Warnings
Systemic Mastocytosis Treatment Doctors in India | Ask Apollo
Systemic Mastocytosis: Clinical Manifestations and Differential Diagnosis<...
Adult Leukemia Clinical Trials and Research | Dana-Farber Cancer Institute
Systemic Mastocytosis : Causes-Symptoms-Diagnosis-Treatment - Usa-good | Clinic world
FDA Action Alert: Blueprint, Indivior and Lexicon | BioSpace
R634W KIT Mutation in an Adult With Systemic Mastocytosis - Avens Scientific
Resolution of osteosclerosis after alloHCT in systemic mastocytosis | Blood | American Society of Hematology
View of Midostaurin in Advanced Systemic Mastocytosis: A Systematic Review and Meta-analysis
R634W KIT Mutation in an Adult With Systemic Mastocytosis - EffiChem software - Confidence in quality
Design of new methodologies to predictive the severity in Systemic Mastocytosis | DNA National Bank
Aggressive8
- [ 1 , 2 , 3 ] Median survival ranges from 198 months in patients with indolent systemic mastocytosis to 41 months in aggressive systemic mastocytosis and 2 months in acute mast cell leukemia. (medscape.com)
- 16 had aggressive systemic mastocytosis, 57 had systemic mastocytosis with an associated hematologic neoplasm, and 16 had mast-cell leukemia. (uni-koeln.de)
- Systemic mastocytosis (SM) can be further categorized into indolent SM, smouldering SM and aggressive SM. (ab-science.com)
- We conducted a phase II, multicentre, study to investigate thalidomide in severely symptomatic indolent and aggressive systemic mastocytosis. (qxmd.com)
- Mast cell mediator-related symptoms responded in 71% of cases and 25% of aggressive systemic mastocytosis patients had a response in terms of B/C findings (borderline/cytoreduction needed). (qxmd.com)
- A 52-year-old man received HLA-matched sibling allogeneic hematopoietic cell transplantation (alloHCT) for aggressive systemic mastocytosis (ASM) with KITD816V mutation. (ashpublications.org)
- Aggressive systemic mastocytosis (ASM). (mydr.com.au)
- Imatinib Mesylate tablets can be used for multiple indications including Philadelphia chromosome-positive chronic myeloid leukemia (Ph+ CML), Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL), myelodysplastic/myeloproliferative diseases (MDS/MPD), hyper eosinophilic syndrome (HES) and aggressive systemic mastocytosis (ASM). (researchandmarkets.com)
Urticaria pigmentosa5
- Urticaria pigmentosa is found in most patients with mastocytosis. (clinicaladvisor.com)
- With the exception of pure cutaneous mastocytosis (usually urticaria pigmentosa), indolent SM affecting bone marrow and skin is the most common subvariant of mastocytosis. (bmj.com)
- Diagnosis of urticaria pigmentosa (cutaneous mastocytosis, see above) can often be done by seeing the characteristic lesions that are dark brown and fixed. (wikipedia.org)
- Mastocytosis can occur in a variety of forms: The most common cutaneous mastocytosis is maculopapular cutaneous mastocytosis, previously named papular urticaria pigmentosa (UP), more common in children, although also seen in adults. (wikipedia.org)
- When following patients with mastocytosis - whether classical urticaria pigmentosa in children or adult mastocytosis - I usually ask a directed review of systems, focusing on flushing, palpitations, and gastrointestinal symptoms. (aad.org)
Form of cutaneous mastocytosis3
- Rare and severe form of cutaneous mastocytosis. (dermnetnz.org)
- Telangiectasia macularis eruptiva perstans (TMEP) is a much rarer form of cutaneous mastocytosis that affects adults. (wikipedia.org)
- Dear Editor, Maculopapular cutaneous mastocytosis (MPCM), formerly telangiectasia macularis eruptiva perstans (TMEP), is an uncommon form of cutaneous mastocytosis first described on 1930 (1). (nih.gov)
Mutation7
- Response rates were similar regardless of the subtype of advanced systemic mastocytosis, KIT mutation status, or exposure to previous therapy. (uni-koeln.de)
- These two phase 2a studies enrolled a total of 46 patients in two sub-populations of patients suffering from indolent mastocytosis with handicap: one study in patients who did not carry the D816V mutation on the c-Kit gene and another in patients who did carry this mutation. (ab-science.com)
- Mutations of the gene coding for the c-kit receptor (mutation KIT(D816V)), leading to constitutive signalling through the receptor is found in >90% of patients with systemic mastocytosis. (wikipedia.org)
- In cases of suspicion of SM help can also be drawn from analysis of mutation in KIT(D816V) in peripheral blood using sensitive PCR-technology[citation needed] To set the diagnosis of systemic mastocytosis, certain criteria must be met. (wikipedia.org)
- KIT D816V mutation burden does not correlate to clinical manifestations of indolent systemic mastocytosis. (thieme-connect.com)
- KIT GNNK splice variants: Expression in systemic mastocytosis and influence on the activating potential of the D816V mutation in mast cells. (thieme-connect.com)
- Etiology in many cases of mastocytosis involves an activating mutation (D816V) in the gene coding for the stem cell factor receptor c-kit, which is present on mast cells. (msdmanuals.com)
Symptoms13
- Systemic mastocytosis is a life-threatening disease in which mast cell mediator release can lead to general symptoms. (authorea.com)
- Mastocytosis is a rare disease characterized by proliferation and accumulation of mast cells in various tissues, causing a wide variety of clinical symptoms. (ab-science.com)
- There is a high unmet need in indolent systemic mastocytosis (ISM) and smouldering systemic mastocytosis (SSM) for new therapeutic options with demonstrated activity on severe symptoms and adequate safety profile for a life-long treatment. (ab-science.com)
- Systemic mastocytosis is a rare disorder that affects the body's mast cells, leading to symptoms such as skin rash, abdominal pain, and anaphylaxis. (dantelabs.com)
- This panel is designed for individuals with a family history of systemic mastocytosis or individuals with symptoms of the condition, such as skin rash, abdominal pain, and anaphylaxis. (dantelabs.com)
- Mastocytosis can lead to organ failure as well as systemic symptoms that can be disabling, with considerable deterioration in quality of life. (qxmd.com)
- In conclusion, thalidomide might be useful in mastocytosis and in the treatment of mast cell-related symptoms. (qxmd.com)
- Mastocytosis is classified primarily based on where the extended numbers of cells are discovered, the symptoms and scientific presentation, and findings on pathology. (usa-good.com)
- People affected by mastocytosis are susceptible to a variety of symptoms, including itching, hives, and anaphylactic shock, caused by the release of histamine and other pro-inflammatory substances from mast cells. (wikipedia.org)
- Because mast cells play a role in allergic reactions, the symptoms of mastocytosis often are similar to the symptoms of an allergic reaction. (wikipedia.org)
- Systemic mastocytosis should be suspected in patients presenting with not only cutaneous symptoms suggestive of mast cell degranulation such as anaphylaxis, flushing or urticaria but also unexplained osteoporosis and gastrointestinal and constitutional symptoms. (bioscientifica.com)
- Treatment of MPCM depends on the presence of systemic involvement and/or the clinical symptoms of the disease itself. (nih.gov)
- H1 receptor antagonists are considered the first-choice therapeutic option for control of symptoms among patients with skin mastocytosis (4,5). (nih.gov)
Neoplasm2
- Mastocytosis is a heterogeneous neoplasm characterized by accumulation of neoplastic mast cells in various organs. (qxmd.com)
- Systemic mastocytosis (SM) with an associated hematologic neoplasm (SM-AHN) comprises 5% to 40% of cases of SM. (amjcaserep.com)
Clonal3
- Systemic mastocytosis with associated clonal hematological non-mast cell lineage disease: clinical significance and comparison of chomosomal abnormalities in SM and AHNMD components. (umassmed.edu)
- Systemic mastocytosis (SM) is a clonal disease of mast cell progenitors from the bone marrow. (reumatologiaclinica.org)
- ASXL1 but Not TET2 mutations adversely impact overall survival of patients suffering systemic mastocytosis with associated clonal hematologic non-mast-cell diseases. (thieme-connect.com)
Manifestations5
- Butterfield, JH 2006, ' Systemic Mastocytosis: Clinical Manifestations and Differential Diagnosis ', Immunology and Allergy Clinics of North America , vol. 26, no. 3, pp. 487-513. (elsevierpure.com)
- Butterfield, Joseph H. / Systemic Mastocytosis : Clinical Manifestations and Differential Diagnosis . (elsevierpure.com)
- Mast cell activation syndrome: A newly recognized disorder with systemic clinical manifestations. (thieme-connect.com)
- It is more frequent in adults, and early diagnosis is crucial since it has been reported to be associated with serious underlying systemic disorders, such as myeloproliferative diseases and severe manifestations like anaphylaxis (2,3). (nih.gov)
- Soter et al were the first to recognize the neuropsychiatric manifestations of mastocytosis. (aad.org)
Hematologic1
- BACKGROUND Advanced systemic mastocytosis comprises rare hematologic neoplasms that are associated with a poor prognosis and lack effective treatment options. (uni-koeln.de)
Disorder2
- Systemic mastocytosis (mas-to-sy-TOE-sis) is an unprecedented disorder that results in too many mast cells building up in your body. (usa-good.com)
- Mastocytosis, a type of mast cell disease, is a rare disorder affecting both children and adults caused by the accumulation of functionally defective mast cells (also called mastocytes) and CD34+ mast cell precursors. (wikipedia.org)
Diagnosis6
- Diagnosis is mastocytosis, and morphology is abnormal mast cells. (medscape.com)
- [ 10 ] Diagnosis of systemic mastocytosis requires the presence of a major criterion plus one minor criterion, or the presence of three minor criteria. (medscape.com)
- If more than one tissue/organ is affected, the diagnosis of systemic mastocytosis (SM) should be made. (bmj.com)
- Recently, a revised classification of mastocytosis has been published including clear cut criteria for diagnosis and subclassification. (bmj.com)
- Recent advances in diagnosis and therapy in systemic mastocytosis. (qxmd.com)
- In the case of chronic multisystem polymorbidity systemic mast cell activation disease should be considered as a differential diagnosis at an early stage. (thieme-connect.com)
Tryptase3
- citation needed] In case of suspicion of systemic disease the level of serum tryptase in the blood can be of help. (wikipedia.org)
- If the base level of s-tryptase is elevated, this implies that the mastocytosis can be systemic. (wikipedia.org)
- We report the case of a 69-year-old female with systemic mastocytosis, diagnosed based on widespread pigmented papules and macules, elevated serum tryptase levels and confirmatory skin and bone marrow biopsy, on a background of osteoporosis. (bioscientifica.com)
Infiltrates2
- The WHO major diagnostic criterion for systemic mastocytosis is the presence of multifocal, dense infiltrates of mast cells in bone marrow or in other extracutaneous tissues. (medscape.com)
- To clarify the nature (reactive or neoplastic) of lesional, perifocally aggregated lymphocytes in bone marrow infiltrates of systemic mastocytosis (SM), the histopathology of which can resemble malignant lymphoma with focal bone marrow involvement, particularly low grade malignant B cell lymphoma of lymphoplasmacytic immunocytoma subtype, which frequently exhibits increased mast cell (MC) numbers. (bmj.com)
Diffuse cutaneous1
- Less common are diffuse cutaneous mastocytosis, which is skin infiltration without discrete lesions, and mastocytoma, which is a large (1 to 5 cm) solitary collection of mast cells. (msdmanuals.com)
Patients13
- 45% of the patients had a major response, which was defined as complete resolution of at least one type of mastocytosis-related organ damage. (uni-koeln.de)
- CONCLUSIONS In this open-label study, midostaurin showed efficacy in patients with advanced systemic mastocytosis, including the highly fatal variant mast-cell leukemia. (uni-koeln.de)
- Masitinib is developed in ISM and SSM, which are the most prevalent forms of mastocytosis, accounting for approximately 60% of patients. (ab-science.com)
- Systemic Mastocytosis (SM) is a rare disease which makes it difficult to obtain a large number of patients. (bancoadn.org)
- Patients will be diagnosed and controlled by the Spanish network on mastocytosis (REMA). (bancoadn.org)
- The US FDA has accepted the sNDA for Ayvakit (avapritinib) to treat adult patients with indolent systemic mastocytosis. (pharmashots.com)
- Case-control cohort study of patients' perceptions of disability in mastocytosis. (thieme-connect.com)
- The mechanisms of action for omalizumab in patients with mastocytosis are not well known. (nih.gov)
- Other than patients being displeased (or even depressed) by their clinical appearance, I have never given the neuropsychiatric aspects of mastocytosis much (if any) thought. (aad.org)
- According to Moura et al, approximately one-third of mastocytosis patients can display various disabling general and neuropsychological symptom, which may have a profound impact on their quality of life. (aad.org)
- Brain "fog" characterizes patients with autism spectrum disorders (ASDs), celiac disease, chronic fatigue syndrome, fibromyalgia, mastocytosis, and postural tachycardia syndrome (POTS), as well as "minimal cognitive impairment," an early clinical presentation of Alzheimer's disease (AD), and other neuropsychiatric disorders. (aad.org)
- Le pourcentage de CD44 dans les lymphocytes T périphériques était significativement plus élevé chez les patients que chez les témoins, comme détecté par la cytométrie en flux. (who.int)
- En outre, il y avait une aug- mentation significative de la forme soluble du c-kit dans le sérum des patients atteints de pemphigus vulgaire actif par rapport aux témoins. (who.int)
Gastrointestinal2
- Systemic mastocytosis, often termed systemic mast cell disease (SMCD), is characterized by infiltration of clonally derived mast cells in different tissues, including bone marrow (see the image below), skin, the gastrointestinal (GI) tract, the liver, and the spleen. (medscape.com)
- Based on application the market is classified into blood cancer (leukemia and other blood cancers), gastrointestinal stromal tumors (GIST), skin tumors (dermatofibrosarcoma protuberans), and other tumors such as systemic mastocytosis. (researchandmarkets.com)
Mutations2
- Systemic mastocytosis is caused by mutations in genes involved in the regulation of mast cells, and this panel tests for genetic variants that are known to affect these processes. (dantelabs.com)
- Mutations in KIT that preserve the transfer ON are the motive of mastocytosis. (usa-good.com)
Disease11
- This downloadable slide set presents an expert discussion detailing the limitations of conventional treatments for indolent systemic mastocytosis and the role of disease-modifying therapy in improving patient outcomes. (clinicaloptions.com)
- Mastocytosis (mast cell disease) is a relatively uncommon haematological tumour of bone marrow origin. (bmj.com)
- This case highlights the complexities of systemic mastocytosis-related bone disease and the interplay of numerous mediators contributing to a phenotype of both increased bone resorption and formation. (bioscientifica.com)
- Systemic mastocytosis is a neoplastic disease of mast cells characterized by abnormal proliferation and accumulation in the skin and other organs. (bioscientifica.com)
- In the present paper clinical phenotypes, pathogenetic relationships, and diagnostic algorithms as well as therapeutic concepts of/for systemic mast cell activation disease are reviewed. (thieme-connect.com)
- The reader should be able to recognize and diagnose a systemic mast cell activation disease, as well as to counsel a personalized drug therapy. (thieme-connect.com)
- Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics. (thieme-connect.com)
- Systemic mastocytosis - definition of an internal disease. (thieme-connect.com)
- All performed tests were normal, thus excluding systemic disease. (nih.gov)
- The concept that disease rooted principally in chronic aberrant constitutive and reactive activation of mast cells (MCs), without the gross MC neoplasia in mastocytosis, first emerged in the 1980s, but only in the last decade has recognition of "mast cell activation syndrome" (MCAS) grown significantly. (degruyter.com)
- Cutaneous forms rarely progress to systemic disease in children but may do so in adults. (msdmanuals.com)
Ayvakit1
- On May 22, the FDA is expected to reach a regulatory decision on Blueprint Medicines ' Ayvakit (avapritinib), an investigational kinase inhibitor being proposed for the treatment of indolent systemic mastocytosis (SM). (biospace.com)
Adults1
- Mastocytosis can occur in each youngsters and adults, with a predominance for cutaneous mastocytosis in youngsters and systemic mastocytosis in adults. (usa-good.com)
Workup1
- What workup is needed for a patient with mastocytosis diagnosed through biopsy? (clinicaladvisor.com)
Osteoporosis2
- The prevalence of osteoporosis in systemic mastocytosis is high. (bioscientifica.com)
- Treatment of osteoporosis in systemic mastocytosis involves antiresorptive therapy with bisphosphonates and more recently, denosumab. (bioscientifica.com)
Syndrome1
- Physical examination revealed a positive Darier sign (Figure 1, d) without other clinical signs suggestive of systemic involvement (e.g. lymphadenopathy, hepatosplenomegaly, malabsorption syndrome). (nih.gov)
Subvariant1
- Indolent systemic mastocytosis, including the subvariant of smouldering systemic mastocytosis, is a lifelong condition associated with reduced quality-of-life. (ab-science.com)
Organs5
- When mast cell numbers are accelerated, the quantity of launched mediators is accelerated, generating mast cell mediator associated signs, which may be systemic and localized in more than one organs. (usa-good.com)
- In systemic mastocytosis, the accelerated numbers of mast cells are determined in other organs, whether or no longer the clusters of mast cells are also present within the skin. (usa-good.com)
- When you have systemic mastocytosis, excess mast cells increase on your skin, bone marrow, digestive tract or different body organs. (usa-good.com)
- Mastocytosis is mast cell proliferation with infiltration of skin or other tissues and organs. (msdmanuals.com)
- Mastocytosis is a group of disorders characterized by proliferation of mast cells and infiltration of the skin, other organs, or both. (msdmanuals.com)
Anaphylaxis1
- Foods are known triggers of anaphylaxis in people with mastocytosis. (healthline.com)
TMEP1
- 2] MPCM and TMEP can be a part of indolent systemic mastocytosis. (wikipedia.org)
Proliferation1
- Systemic mastocytosis (SM) was reported by Ellis in 1949 as an abnormal proliferation of mast cells infiltrating the skin, bone marrow, liver, spleen, alimentary canal and lymphatic nodes. (reumatologiaclinica.org)
Malignant1
- Increase of bone marrow lymphocytes in systemic mastocytosis: reactive lymphocytosis or malignant lymphoma? (bmj.com)
Subtype1
- In 2022, the World Health Organization (WHO) published revised criteria for diagnosing systemic mastocytosis and added a new bone marrow mastocytosis (BMM) subtype. (medscape.com)
Organ3
- Systemic mastocytosis requires the presence of at least one major and one minor criterion or three minor criteria in the bone marrow or other extracutaneous organ. (clinicaladvisor.com)
- Mastocytosis is a sickness in which odd mast cells are accelerated in a single or extra organ. (usa-good.com)
- Mastocytosis is a diverse group of disorders characterised by the expansion and accumulation of mast cells in one or more organ systems. (dermnetnz.org)
Treatment4
- If you have systemic mastocytosis, you probably have a personalized treatment plan. (healthline.com)
- Masitinib's anti-mast cell properties appear particularly well-adapted to the treatment of indolent systemic mastocytosis. (ab-science.com)
- Tarikci N, Kocatürk E, Güngör Ş, Topal IO, Can PÜ, Singer R. Pruritus in Systemic Diseases: A Review of Etiological Factors and New Treatment Modalities. (medscape.com)
- Phan NQ, Bernhard JD, Luger TA, Ständer S. Antipruritic treatment with systemic μ-opioid receptor antagonists: a review. (medscape.com)