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Neonatal-onset Multisystem Inflammatory Disease
Neonatal-onset multisystem inflammatory disease is a rare disease, 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) ... [...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] |
Urticaria
Hives, also known as urticaria, is a kind of skin rash with red, raised, itchy bumps. Hives may burn or sting. The patches of rash may appear on different body parts, with variable duration from minutes to days, and does not leave any long-lasting skin change. Fewer than 5% of cases last for more than six weeks. The condition frequently recurs. Hives frequently occur following an infection or as a result of an allergic reaction such as to medication, insect bites, or food. Psychological stress, cold temperature, or vibration may also be a trigger. In half of cases the cause remains unknown. Risk factors include having conditions such as hay fever or asthma. Diagnosis is typically based on the appearance. Patch testing may be useful to determine the allergy. Prevention is by avoiding whatever it is that causes the condition. Treatment is typically with antihistamines such as diphenhydramine and cetirizine. In severe cases, corticosteroids or leukotriene inhibitors may also be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sensorineural Hearing Loss
Sensorineural hearing loss (SNHL) is a type of hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII). SNHL accounts for about 90% of reported hearing loss . SNHL is usually permanent and can be mild, moderate, severe, profound, or total. Various other descriptors can be used depending on the shape of the audiogram, such as high frequency, low frequency, U-shaped, notched, peaked, or flat. ''Sensory'' hearing loss often occurs as a consequence of damaged or deficient cochlear hair cells. Hair cells may be abnormal at birth or damaged during the lifetime of an individual. There are both external causes of damage, including infection, and ototoxic drugs, as well as intrinsic causes, including genetic mutations. A common cause or exacerbating factor in SNHL is prolonged exposure to environmental noise, or noise-induced hearing loss. Exposure to a single very loud noise such as ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Contractures
In pathology, a contracture is a permanent shortening of a muscle or joint. It is usually in response to prolonged hypertonic spasticity in a concentrated muscle area, such as is seen in the tightest muscles of people with conditions like spastic cerebral palsy, but can also be due to the congenital abnormal development of muscles and connective tissue in the womb. Contractures develop when normally elastic tissues such as muscles or tendons are replaced by inelastic tissues (fibrosis). This results in the shortening and hardening of these tissues, ultimately causing rigidity, joint deformities and a total loss of movement around the joint. Most of the physical therapy, occupational therapy and other exercise regimens targeted towards people with spasticity focuses on trying to prevent contractures from happening in the first place. However, research on sustained traction of connective tissue in approaches such as adaptive yoga has demonstrated that contracture can be reduced, at ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Patella
The patella, also known as the kneecap, is a flat, rounded triangular bone which articulates with the femur (thigh bone) and covers and protects the anterior articular surface of the knee joint. The patella is found in many tetrapods, such as mice, cats, birds and dogs, but not in whales, or most reptiles. In humans, the patella is the largest sesamoid bone (i.e., embedded within a tendon or a muscle) in the body. Babies are born with a patella of soft cartilage which begins to ossify into bone at about four years of age. Structure The patella is a sesamoid bone roughly triangular in shape, with the apex of the patella facing downwards. The apex is the most inferior (lowest) part of the patella. It is pointed in shape, and gives attachment to the patellar ligament. The front and back surfaces are joined by a thin margin and towards centre by a thicker margin. The tendon of the quadriceps femoris muscle attaches to the base of the patella., with the vastus intermedius muscle ... [...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] |
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] |
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] |
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] |
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] |
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] |
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] |
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