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DADA2
Deficiency of Adenosine deaminase 2 (DADA2) is a monogenic disease associated with systemic inflammation and vasculopathy that affects a wide variety of organs in different patients. As a result, it is hard to characterize a patient with this disorder. Manifestations of the disease include but are not limited to recurrent fever, livedoid rash ( reticularis or racemosa), various cytopenias, stroke, immunodeficiency, and bone marrow failure. Symptoms often onset during early childhood, but some cases have been discovered as late as 65 years old. DADA2 is caused by mutations in th''ADA2'' gene and is inherited in an autosomal recessive manner. The protein product of this geneadenosine deaminase 2(ADA2), is an extracellular enzyme that breaks down adenosine and may also serve as a growth factor. Pathogenic mutations decrease this enzymatic activity in patient blood, leading to disease manifestations. However, mutational status and residual enzyme activity levels do not explicitly ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or Heredity, inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
B Cell
B cells, also known as B lymphocytes, are a type of the lymphocyte subtype. They function in the humoral immunity component of the adaptive immune system. B cells produce antibody molecules which may be either secreted or inserted into the plasma membrane where they serve as a part of B-cell receptors. When a naïve or memory B cell is activated by an antigen, it proliferates and differentiates into an antibody-secreting effector cell, known as a plasmablast or plasma cell. In addition, B cells Antigen presentation, present antigens (they are also classified as professional Antigen-presenting cell, antigen-presenting cells, APCs) and secrete cytokines. In mammals B cells Cellular differentiation, mature in the bone marrow, which is at the core of most bones. In birds, B cells mature in the bursa of Fabricius, a lymphoid organ where they were first discovered by Chang and Glick, which is why the ''B'' stands for ''bursa'' and not ''bone marrow'', as commonly believed. B cells, unl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lacunar Stroke
Lacunar stroke or lacunar cerebral infarct (LACI) is the most common type of ischemic stroke, resulting from the Vascular occlusion, occlusion of small penetrating artery, arteries that provide blood to the brain's deep structures. Patients who present with symptoms of a lacunar stroke, but who have not yet had diagnostic imaging performed, may be described as having lacunar stroke syndrome (LACS). Much of the current knowledge of lacunar strokes comes from C. Miller Fisher's cadaver dissections of post-mortem stroke patients. He observed "lacunae" (empty spaces) in the deep brain structures after occlusion of 200–800 μm penetrating arteries and connected them with five classic syndromes. These syndromes are still noted today, though lacunar infarcts are diagnosed based on clinical judgment and radiology, radiologic imaging. Signs and symptoms Each of the five classical lacunar syndromes has a relatively distinct symptom complex. Symptoms may occur suddenly, progressiv ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Subcutaneous Nodules
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Subcutaneous may refer to: * Subcutaneous injection * Subcutaneous tissue The subcutaneous tissue (), also called the hypodermis, hypoderm (), subcutis, or superficial fascia, is the lowermost layer of the integumentary system in vertebrates. The types of cells found in the layer are fibroblasts, adipose cells, and ma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Digital Necrosis
Digital usually refers to something using discrete digits, often binary digits. Businesses *Digital bank, a form of financial institution *Digital Equipment Corporation (DEC) or Digital, a computer company *Digital Research (DR or DRI), a software company Computing and technology Hardware *Digital electronics, electronic circuits which operate using digital signals **Digital camera, which captures and stores digital images *** Digital versus film photography **Digital computer, a computer that handles information represented by discrete values **Digital recording, information recorded using a digital signal Socioeconomic phenomena * Digital culture, the anthropological dimension of the digital social changes *Digital divide, a form of economic and social inequality in access to or use of information and communication technologies * Digital economy, an economy based on computing and telecommunications resources *Digital rights, legal rights of access to computers or the Internet ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Polyarteritis Nodosa
Polyarteritis nodosa (PAN) is a systemic necrotizing inflammation of blood vessels (vasculitis) affecting medium-sized muscular arteries, typically involving the arteries of the kidneys and other internal organs but generally sparing the lungs' circulation. Small aneurysms are strung like the beads of a rosary, therefore making this "rosary sign" an important diagnostic feature of the vasculitis. PAN is sometimes associated with infection by the hepatitis B or hepatitis C virus. The condition may be present in infants. PAN is a rare disease. With treatment, five-year survival is 80%; without treatment, five-year survival is 13%. Death is often a consequence of kidney failure, myocardial infarction, or stroke. Signs and symptoms PAN may affect nearly every organ system and thus can present with a broad array of signs and symptoms. These manifestations result from ischemic damage to affected organs, often the skin, heart, kidneys, and nervous system. Constitutional symptoms are s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hematopoietic Stem Cell Transplantation
Hematopoietic stem-cell transplantation (HSCT) is the transplantation of multipotent hematopoietic stem cells, usually derived from bone marrow, peripheral blood, or umbilical cord blood, in order to replicate inside a patient and produce additional normal blood cells. HSCT may be autologous (the patient's own stem cells are used), syngeneic (stem cells from an identical twin), or allogeneic (stem cells from a donor). It is most often performed for patients with certain cancers of the blood or bone marrow, such as multiple myeloma, leukemia, some types of lymphoma and immune deficiencies. In these cases, the recipient's immune system is usually suppressed with radiation or chemotherapy before the transplantation. Infection and graft-versus-host disease are major complications of allogeneic HSCT. HSCT remains a dangerous procedure with many possible complications; it is reserved for patients with life-threatening diseases. As survival following the procedure ha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vasculitis
Vasculitis is a group of disorders that destroy blood vessels by inflammation. Both artery, arteries and veins are affected. Lymphangitis (inflammation of lymphatic vessels) is sometimes considered a type of vasculitis. Vasculitis is primarily caused by white blood cell, leukocyte migration and resultant damage. Although both occur in vasculitis, inflammation of veins (phlebitis) or arteries (arteritis) on their own are separate entities. Signs and symptoms The clinical presentation of the various vasculitides on the skin and internal organs is mostly determined by the diameter or size of the vessels mainly affected. Non-specific symptoms are common and include fever, headache, fatigue, myalgia, weight loss, and arthralgia. All forms of vasculitis, even large vessel vasculitides, may cause skin manifestations. The most common skin manifestations include purpura, Nodule (dermatology), nodules, livedo reticularis, Ulcer (dermatology), skin ulcers, and purpuric Hives, urticaria. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TNF Inhibitor
Tumor necrosis factor (TNF), formerly known as TNF-α, is a chemical messenger produced by the immune system that induces inflammation. TNF is produced primarily by activated macrophages, and induces inflammation by binding to its receptors on other cells. It is a member of the tumor necrosis factor superfamily, a family of transmembrane proteins that are cytokines, chemical messengers of the immune system. Excessive production of TNF plays a critical role in several inflammatory diseases, and TNF-blocking drugs are often employed to treat these diseases. TNF is produced primarily by macrophages but is also produced in several other cell types, such as T cells, B cells, dendritic cells, and mast cells. It is produced rapidly in response to pathogens, cytokines, and environmental stressors. TNF is initially produced as a type II transmembrane protein (tmTNF), which is then cleaved by TNF alpha converting enzyme (TACE) into a soluble form (sTNF) and secreted from the cell. Th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Enzymatic Activity
Enzyme assays are laboratory methods for measuring enzymatic activity. They are vital for the study of enzyme kinetics and enzyme inhibition. Enzyme units The quantity or concentration of an enzyme can be expressed in molar amounts, as with any other chemical, or in terms of activity in enzyme units. Enzyme activity Enzyme activity is a measure of the quantity of active enzyme present and is thus dependent on various physical conditions, ''which should be specified''. It is calculated using the following formula: :\mathrm=\mathrm_\text=\mathrm\times\mathrm where :\mathrm = Enzyme activity :\mathrm_\text = Moles of substrate converted per unit time :\mathrm = Rate of the reaction :\mathrm = Reaction volume The SI unit is the katal, 1 katal = 1 mol s−1 (mole per second), but this is an excessively large unit. A more practical and commonly used value is enzyme unit (U) = 1 μmol min−1 (micromole per minute). 1 U corresponds to 16.67 nanokatals. Enzyme activity as giv ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Growth Factor
A growth factor is a naturally occurring substance capable of stimulating cell proliferation, wound healing, and occasionally cellular differentiation. Usually it is a secreted protein or a steroid hormone. Growth factors are important for regulating a variety of cellular processes. Growth factors typically act as signaling molecules between cells. Examples are cytokines and hormones that bind to specific receptors on the surface of their target cells. They often promote cell differentiation and maturation, which varies between growth factors. For example, epidermal growth factor (EGF) enhances osteogenic differentiation ( osteogenesis or bone formation), while fibroblast growth factors and vascular endothelial growth factors stimulate blood vessel differentiation ( angiogenesis). Comparison to cytokines ''Growth factor'' is sometimes used interchangeably among scientists with the term '' cytokine.'' Historically, cytokines were associated with hematopoietic (b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
