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CINCA
Neonatal-onset multisystem inflammatory disease is a rare genetic periodic fever syndrome which causes uncontrolled inflammation in multiple parts of the body starting in the newborn period. Symptoms include skin rashes, severe arthritis, and chronic meningitis leading to neurologic damage. It is one of the cryopyrin-associated periodic syndromes. NOMID can result from a mutation in the ''CIAS1'' gene (also known as ''NLRP3'' gene), which helps control inflammation. Mutations in this gene also cause familial cold urticaria and Muckle–Wells syndrome. NOMID has been successfully treated with the drug anakinra. This syndrome is also known as the Prieur–Griscelli syndrome as it was first described by these authors in 1981.Prieur AM, Griscelli C (1981) Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. J. Pediat 99:79-83 Signs and symptoms The age of onset is almost always before 3 months of age. Many infants are born preterm (1/3 cases) and dysmat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cryopyrin-associated Periodic Syndrome
Cryopyrin-associated periodic syndrome (CAPS) is a group of rare, heterogeneous autoinflammatory disease characterized by Interleukin 1 beta, interleukin 1β-mediated systemic inflammation and clinical symptoms involving skin, joints, central nervous system, and eyes. It encompasses a spectrum of three clinically overlapping autoinflammatory syndromes including familial cold autoinflammatory syndrome (FCAS, formerly termed familial cold-induced urticaria), the Muckle–Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID, also called chronic infantile neurologic cutaneous and articular syndrome or CINCA) that were originally thought to be distinct entities, but in fact share a single genetic mutation and pathogenic pathway, and keratoendotheliitis fugax hereditaria in which the autoinflammatory symptoms affect only the anterior segment of the eye. Signs and symptoms The syndromes within CAPS overlap clinically, and patients may have features of more than ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CIAS1
NLR family pyrin domain containing 3 (NLRP3) (previously known as NACHT, LRR and PYD domains-containing protein 3 ALP3and cryopyrin), is a protein that in humans is encoded by the ''NLRP3'' gene located on the long arm of chromosome 1. NLRP3 is expressed predominantly in macrophages and as a component of the inflammasome, detects products of damaged cells such as extracellular ATP and crystalline uric acid. Activated NLRP3 in turn triggers an immune response. Mutations in the NLRP3 gene are associated with a number of organ specific autoimmune diseases. Nomenclature NACHT, LRR, and PYD are respectively acronyms for: * NACHT – NAIP (neuronal apoptosis inhibitor protein), C2TA heterokaryon_incompatibility)_and_TP1_(telomerase-associated_protein_1) *_ MHC,_HET-E_(Podospora_anserina#Heterokaryon_incompatibility">heterokaryon_incompatibility)_and_TP1_(telomerase-associated_protein_1) *_Leucine-rich_repeat">LRR_–_"leucine-rich_repeat"__and_is_synonymous_with_NLR,_for_''_o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Muckle–Wells Syndrome
Muckle–Wells syndrome (MWS) is a rare autosomal dominant disease which causes sensorineural deafness and recurrent hives, and can lead to amyloidosis. Individuals with MWS often have episodic fever, chills, and joint pain. As a result, MWS is considered a type of periodic fever syndrome. MWS is caused by a defect in the CIAS1 gene which creates the protein cryopyrin. MWS is closely related to two other syndromes, familial cold urticaria and neonatal onset multisystem inflammatory disease—in fact, all three are related to mutations in the same gene and subsumed under the term cryopyrin-associated periodic syndromes (CAPS). Sign and symptoms * Sensorineural deafness * Recurrent urticaria (hives) * Fevers * Chills * Arthralgia (painful joints) Causes MWS occurs when a mutation in the ''CIAS1'' gene, encoding for NLRP3, leads to increased activity of the protein cryopyrin. This protein is partly responsible for the body's response to damage or infection. During these states, a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Disease
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. Orphan drugs are ones so created or sold. Most rare diseases are genetic and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the rarest known genetic disease. No single cut-off number has been agreed upon for which a disease is considered rare. A disease may be considered rare in one part of the world, or in a particular gro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Knee
In humans and other primates, the knee joins the thigh with the leg and consists of two joints: one between the femur and tibia (tibiofemoral joint), and one between the femur and patella (patellofemoral joint). It is the largest joint in the human body. The knee is a modified hinge joint, which permits flexion and extension as well as slight internal and external rotation. The knee is vulnerable to injury and to the development of osteoarthritis. It is often termed a ''compound joint'' having tibiofemoral and patellofemoral components. (The fibular collateral ligament is often considered with tibiofemoral components.) Structure The knee is a modified hinge joint, a type of synovial joint, which is composed of three functional compartments: the patellofemoral articulation, consisting of the patella, or "kneecap", and the patellar groove on the front of the femur through which it slides; and the medial and lateral tibiofemoral articulations linking the femur, or thigh bone ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sequelae
A sequela (, ; usually used in the plural, sequelae ) is a pathological condition resulting from a disease, injury, therapy, or other trauma. Derived from the Latin word, meaning “sequel”, it is used in the medical field to mean a complication or condition following a prior illness or disease. A typical sequela is a chronic complication of an acute condition—in other words, a long-term effect of a temporary disease or injury—which follows immediately from the condition. Sequelae differ from late effects, which can appear long after—even several decades after—the original condition has resolved. In general, non-medical usage, the terms ''sequela'' and ''sequelae'' mean consequence and consequences. Examples and uses Chronic kidney disease, for example, is sometimes a sequela of diabetes; "chronic constipation" or more accurately "obstipation" (that is, inability to pass stool or gas) is a sequela to an intestinal obstruction; and neck pain is a common sequela of whi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cartilage
Cartilage is a resilient and smooth type of connective tissue. In tetrapods, it covers and protects the ends of long bones at the joints as articular cartilage, and is a structural component of many body parts including the rib cage, the neck and the bronchial tubes, and the intervertebral discs. In other taxa, such as chondrichthyans, but also in cyclostomes, it may constitute a much greater proportion of the skeleton. It is not as hard and rigid as bone, but it is much stiffer and much less flexible than muscle. The matrix of cartilage is made up of glycosaminoglycans, proteoglycans, collagen fibers and, sometimes, elastin. Because of its rigidity, cartilage often serves the purpose of holding tubes open in the body. Examples include the rings of the trachea, such as the cricoid cartilage and carina. Cartilage is composed of specialized cells called chondrocytes that produce a large amount of collagenous extracellular matrix, abundant ground substance that is rich in pro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epiphyses
The epiphysis () is the rounded end of a long bone, at its joint with adjacent bone(s). Between the epiphysis and diaphysis (the long midsection of the long bone) lies the metaphysis, including the epiphyseal plate (growth plate). At the joint, the epiphysis is covered with articular cartilage; below that covering is a zone similar to the epiphyseal plate, known as subchondral bone. The epiphysis is filled with red bone marrow, which produces erythrocytes (red blood cells). Structure There are four types of epiphysis: # Pressure epiphysis: The region of the long bone that forms the joint is a pressure epiphysis (e.g. the head of the femur, part of the hip joint complex). Pressure epiphyses assist in transmitting the weight of the human body and are the regions of the bone that are under pressure during movement or locomotion. Another example of a pressure epiphysis is the head of the humerus which is part of the shoulder complex. condyles of femur and tibia also comes under ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypertrophic
Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells. It is distinguished from hyperplasia, in which the cells remain approximately the same size but increase in number.Updated by Linda J. Vorvick. 8/14/1Hyperplasia/ref> Although hypertrophy and hyperplasia are two distinct processes, they frequently occur together, such as in the case of the hormonally-induced proliferation and enlargement of the cells of the uterus during pregnancy. Eccentric hypertrophy is a type of hypertrophy where the walls and chamber of a hollow organ undergo growth in which the overall size and volume are enlarged. It is applied especially to the left ventricle of heart. Sarcomeres are added in series, as for example in dilated cardiomyopathy (in contrast to hypertrophic cardiomyopathy, a type of concentric hypertrophy, where sarcomeres are added in parallel). Gallery File:*+ * Photographic documentation on sexual education - Hypertrophy of bre ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Wrist
In human anatomy, the wrist is variously defined as (1) the Carpal bones, carpus or carpal bones, the complex of eight bones forming the proximal skeletal segment of the hand; "The wrist contains eight bones, roughly aligned in two rows, known as the carpal bones." (2) the wrist joint or radiocarpal joint, the joint between the radius (bone), radius and the Carpal bones, carpus and; (3) the anatomical region surrounding the carpus including the distal parts of the bones of the forearm and the proximal parts of the metacarpus or five metacarpal bones and the series of joints between these bones, thus referred to as ''wrist joints''. "With the large number of bones composing the wrist (ulna, radius, eight carpas, and five metacarpals), it makes sense that there are many, many joints that make up the structure known as the wrist." This region also includes the carpal tunnel, the anatomical snuff box, bracelet lines, the Flexor retinaculum of the hand, flexor retinaculum, and the ex ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ankle
The ankle, or the talocrural region, or the jumping bone (informal) is the area where the foot and the leg meet. The ankle includes three joints: the ankle joint proper or talocrural joint, the subtalar joint, and the inferior tibiofibular joint. The movements produced at this joint are dorsiflexion and plantarflexion of the foot. In common usage, the term ankle refers exclusively to the ankle region. In medical terminology, "ankle" (without qualifiers) can refer broadly to the region or specifically to the talocrural joint. The main bones of the ankle region are the talus (in the foot), and the tibia and fibula (in the leg). The talocrural joint is a synovial hinge joint that connects the distal ends of the tibia and fibula in the lower limb with the proximal end of the talus. The articulation between the tibia and the talus bears more weight than that between the smaller fibula and the talus. Structure Region The ankle region is found at the junction of the leg and the f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Elbow
The elbow is the region between the arm and the forearm that surrounds the elbow joint. The elbow includes prominent landmarks such as the olecranon, the cubital fossa (also called the chelidon, or the elbow pit), and the lateral and the medial epicondyles of the humerus. The elbow joint is a hinge joint between the arm and the forearm; more specifically between the humerus in the upper arm and the radius and ulna in the forearm which allows the forearm and hand to be moved towards and away from the body. The term ''elbow'' is specifically used for humans and other primates, and in other vertebrates forelimb plus joint is used. The name for the elbow in Latin is ''cubitus'', and so the word cubital is used in some elbow-related terms, as in ''cubital nodes'' for example. Structure Joint The elbow joint has three different portions surrounded by a common joint capsule. These are joints between the three bones of the elbow, the humerus of the upper arm, and the radius and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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