T(15;17)
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T(15;17)
Acute promyelocytic leukemia (APML, APL) is a subtype of acute myeloid leukemia (AML), a cancer of the white blood cells. In APL, there is an abnormal accumulation of immature granulocytes called promyelocytes. The disease is characterized by a t(15;17) chromosomal translocation involving the retinoic acid receptor alpha (''RARA'') gene and is distinguished from other forms of AML by its responsiveness to all-''trans'' retinoic acid (ATRA; also known as tretinoin) therapy. Acute promyelocytic leukemia was first characterized in 1957 by French and Norwegian physicians as a hyperacute fatal illness, with a median survival time of less than a week. Today, prognoses have drastically improved; 10-year survival rates are estimated to be approximately 80-90% according to one study. Signs and symptoms The symptoms tend to be similar to AML in general with the following being possible symptoms: * Anemia * Fatigue * Weakness * Chills * Depression * Difficulty breathing (dyspnea) * Low ...
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Acute Myeloid Leukemia
Acute myeloid leukemia (AML) is a cancer of the myeloid line of blood cells, characterized by the rapid growth of abnormal cells that build up in the bone marrow and blood and interfere with haematopoiesis, normal blood cell production. Symptoms may include Fatigue, feeling tired, shortness of breath, Bruise, easy bruising and bleeding, and increased risk of infection. Occasionally, spread may occur to the brain, skin, or gums. As an acute leukemia, AML progresses rapidly, and is typically fatal within weeks or months if left untreated. Risk factors include getting older, being male, smoking, previous chemotherapy or radiation therapy, myelodysplastic syndrome, and exposure to the chemical benzene. The underlying mechanism involves replacement of normal bone marrow with leukemia cells, which results in a anemia, drop in red blood cells, thrombocytopenia, platelets, and normal leukopenia, white blood cells. Diagnosis is generally based on bone marrow aspiration and specific bl ...
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Retinoic Acid Receptor Alpha
Retinoic acid receptor alpha (RAR-α), also known as NR1B1 (nuclear receptor subfamily 1, group B, member 1), is a nuclear receptor that in humans is encoded by the ''RARA'' gene. ''NR1B1'' is a gene with a protein product and has a chromosomal location of 17q21.2. ''RARA'' codes for the nuclear hormone receptor retinoic acid receptor, alpha subtype, a transcription factor. There are another two subtypes of RARs: beta and gamma subtypes. Function Retinoid signaling is transduced by two families of nuclear receptors, retinoic acid receptor ( RAR) and retinoid X receptor ( RXR), which form RXR/RAR heterodimers. In the absence of ligand, DNA-bound RXR/RARA represses transcription by recruiting the corepressors NCOR1, SMRT ( NCOR2), and histone deacetylase. When ligand binds to the complex, it induces a conformational change allowing the recruitment of coactivators, histone acetyltransferases, and the basic transcription machinery. Retinoic acid receptor-alpha, the protein, ...
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Promyelocytic Leukemia Gene
Promyelocytic leukemia protein (PML) (also known as MYL, RNF71, PP8675 or TRIM19) is the protein product of the ''PML'' gene. PML protein is a tumor suppressor protein required for the assembly of a number of nuclear structures, called PML-nuclear bodies, which form amongst the chromatin of the cell nucleus. These nuclear bodies are present in mammalian nuclei, at about 1 to 30 per cell nucleus. PML-NBs are known to have a number of regulatory cellular functions, including involvement in programmed cell death, genome stability, antiviral effects and controlling cell division. PML mutation or loss, and the subsequent dysregulation of these processes, has been implicated in a variety of cancers. History PML was poorly understood until described in the findings of Grignani ''et al'' in their 1996 study of patients with acute promyelocytic leukemia (APL). It was found that the karyotype of 90% of APL patients included a reciprocal translocation, resulting in the fusion of the gene ...
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All-trans Retinoic Acid
Tretinoin, also known as all-''trans'' retinoic acid (ATRA), is a medication used for the treatment of acne and acute promyelocytic leukemia. For acne, it is applied to the skin as a cream, gel or ointment. For acute promyelocytic leukemia, it is effective only when the RARA-PML fusion mutation is present and is taken by mouth for up to three months. Topical tretinoin is also the most extensively investigated retinoid therapy for photoaging. Common side effects when used as a cream are limited to the skin and include skin redness, peeling, and sun sensitivity. When taken by mouth, side effects include hypertriglyceridemia, hypercholesterolemia, shortness of breath, headache, numbness, depression, skin dryness, itchiness, hair loss, vomiting, muscle pains, and vision changes. Other severe side effects include high white blood cell counts and blood clots. Use during pregnancy is contraindicated due to the risk of birth defects. It is in the retinoid family of medications. Tr ...
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Chromosomal Translocation
In genetics, chromosome translocation is a phenomenon that results in unusual rearrangement of chromosomes. This includes "balanced" and "unbalanced" translocation, with three main types: "reciprocal", "nonreciprocal" and "Robertsonian" translocation. Reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes. Two detached fragments of two different chromosomes are switched. Robertsonian translocation occurs when two non-homologous chromosomes get attached, meaning that given two healthy pairs of chromosomes, one of each pair "sticks" and blends together homogeneously. Each type of chromosomal translocation can result in disorders for growth, function and the development of an individuals body, often resulting from a change in their genome. A gene fusion may be created when the translocation joins two otherwise-separated genes. It is detected on cytogenetics or a karyotype of affected cells. Translocations can be bala ...
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Hematology
Hematology (American and British English spelling differences#ae and oe, spelled haematology in British English) is the branch of medicine concerned with the study of the cause, prognosis, treatment, and prevention of diseases related to blood. It involves treating diseases that affect the production of blood and its components, such as blood cells, hemoglobin, blood proteins, bone marrow, platelets, blood vessels, spleen, and the mechanism of coagulation. Such diseases might include hemophilia, sickle cell anemia, blood clots (thrombus), other bleeding disorders, and blood cancers such as leukemia, multiple myeloma, and lymphoma. The laboratory analysis of blood is frequently performed by a medical technologist or medical laboratory scientist. Specialization Physicians specialized in hematology are known as hematologists or haematologists. Their routine work mainly includes the care and treatment of patients with hematological diseases, although some may also work at the hema ...
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Ecchymosis
A bruise, also known as a contusion, is a type of hematoma of tissue, the most common cause being capillaries damaged by trauma, causing localized bleeding that extravasates into the surrounding interstitial tissues. Most bruises occur close enough to the epidermis such that the bleeding causes a visible discoloration. The bruise then remains visible until the blood is either absorbed by tissues or cleared by immune system action. Bruises which do not blanch under pressure can involve capillaries at the level of skin, subcutaneous tissue, muscle, or bone. Bruises are not to be confused with other similar-looking lesions. Such lesions include petechia (less than , resulting from numerous and diverse etiologies such as adverse reactions from medications such as warfarin, straining, asphyxiation, platelet disorders and diseases such as ''cytomegalovirus''); and purpura (), classified as palpable purpura or non-palpable purpura and indicating various pathologic conditions su ...
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Disseminated Intravascular Coagulation
Disseminated intravascular coagulation (DIC) is a condition in which blood clots form throughout the body, blocking Microvessel, small blood vessels. Symptoms may include chest pain, shortness of breath, leg pain, problems speaking, or problems moving parts of the body. As clotting factors and platelets are used up, bleeding may occur. This may include hematuria, blood in the urine, GI bleed, blood in the stool, or bleeding into the skin. Complications may include organ failure. Relatively common causes include sepsis, surgery, major trauma, cancer, and complications of pregnancy. Less common causes include snake bites, frostbite, and burns. There are two main types: acute (rapid onset) and chronic (slow onset). Diagnosis is typically based on blood tests. Findings may include thrombocytopenia, low platelets, low fibrinogen, high International normalized ratio, INR, or high D-dimer. Treatment is mainly directed towards the underlying condition. Other measures may include givin ...
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Bicytopenia
Pancytopenia is a medical condition in which there is significant reduction in the number of almost all blood cells (red blood cells, white blood cells, platelets, monocytes, lymphocytes, etc.). If only two parameters from the complete blood count are low, the term bicytopenia can be used. The diagnostic approach is the same as for pancytopenia. Causes Iatrogenic causes of pancytopenia include chemotherapy for malignancies if the drug or drugs used cause bone marrow suppression. Rarely, drugs (antibiotics, blood pressure medication, heart medication) can cause pancytopenia. For example, the antibiotic chloramphenicol can cause pancytopenia in some individuals. Rarely, pancytopenia may have other causes, such as mononucleosis or other viral diseases. Increasingly, HIV is itself a cause of pancytopenia. * Familial hemophagocytic syndrome * Aplastic anemia * Gaucher's disease * Metastatic carcinoma of bone * Multiple Myeloma * Overwhelming infections * Lymphoma * Myelofibrosis ...
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Epistaxis
A nosebleed, also known as epistaxis, is an instance of bleeding from the nose. Blood can flow down into the stomach, and cause nausea and vomiting. In more severe cases, blood may come out of both nostrils. Rarely, bleeding may be so significant that low blood pressure occurs. Blood may also be forced to flow up and through the nasolacrimal duct and out of the eye, producing haemolacria, bloody tears. Risk factors include trauma, including putting the finger in the nose, anticoagulants, blood thinners, high blood pressure, alcoholism, seasonal allergies, dry weather, and inhaled corticosteroids. There are two types: anterior, which is more common; and posterior, which is less common but more serious. Anterior nosebleeds generally occur from Kiesselbach's plexus while posterior bleeds generally occur from the sphenopalatine artery or Woodruff's plexus. The diagnosis is by direct observation. Prevention may include the use of petroleum jelly in the nose. Initially, treatment is ...
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Gingival Bleeding
Bleeding on probing (BoP) which is also known as bleeding gums or gingival bleeding is a term used by dentists and dental hygienists when referring to bleeding that is induced by gentle manipulation of the tissue at the depth of the gingival sulcus, or interface between the gingiva and a tooth. BoP is a sign of periodontal inflammation and indicates some sort of destruction and erosion to the lining of the sulcus or the ulceration of sulcular epithelium. The blood comes from lamina propria after the ulceration of the lining.Gingival bleeding' URL assessed on November 21, 2009 BoP seems to be correlated with Periodontal Inflamed Surface Area (PISA). Causes There are many possible causes of gingival bleeding. The main cause of gingival bleeding is the formation and accumulation of plaque at the gum line due to improper brushing and flossing of teeth. The hardened form of plaque is calculus. An advanced form of gingivitis as a result of formation of plaque is periodontitis. Other c ...
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Leukocytosis
Leukocytosis is a condition in which the white cell (leukocyte) count is above the normal range in the blood. It is frequently a sign of an inflammatory response, most commonly the result of infection, but may also occur following certain parasitic infections or bone tumors as well as leukemia. It may also occur after strenuous exercise, convulsions such as epilepsy, emotional stress, pregnancy and labor, anesthesia, as a side effect of medication (e.g., lithium), and epinephrine administration. There are five principal types of leukocytosis: neutrophilia (the most common form), lymphocytosis, monocytosis, eosinophilia, and basophilia. This increase in leukocyte (primarily neutrophils) is usually accompanied by a "left upper shift" in the ratio of immature to mature neutrophils and macrophages. The proportion of immature leukocytes increases due to proliferation and inhibition of granulocyte and monocyte precursors in the bone marrow which is stimulated by several products o ...
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