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Leopard Syndrome
Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway syndromes, is a rare autosomal dominant, multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (''PTPN11''). The disease is a complex of features, mostly involving the skin, skeletal and cardiovascular systems, which may or may not be present in all patients. The nature of how the mutation causes each of the condition's symptoms is not well known; however, research is ongoing. It is a RASopathy. Noonan syndrome with multiple lentigines is caused by a different missense mutation of the same gene. Noonan syndrome is fairly common (1:1,000 to 1:2,500 live births), and neurofibromatosis 1 (which was once thought to be related to NSML) is also common (1:3500); however, no epidemiological data exists for NSML. Signs and symptoms An alternative name of the condition, LEOPARD syndrome, is a mnemonic, originally coined in 1969, as the condit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Prognathism
Prognathism, also called Habsburg jaw or Habsburgs' jaw primarily in the context of its prevalence amongst members of the House of Habsburg, is a positional relationship of the mandible or maxilla to the skeletal base where either of the jaws protrudes beyond a predetermined imaginary line in the coronal plane of the skull. In general dentistry, oral and maxillofacial surgery, and orthodontics, this is assessed clinically or radiographically ( cephalometrics). The word ''prognathism'' derives from Greek πρό (''pro'', meaning 'forward') and γνάθος (''gnáthos'', 'jaw'). One or more types of prognathism can result in the common condition of malocclusion, in which an individual's top teeth and lower teeth do not align properly. Presentation Prognathism in humans can occur due to normal variation among phenotypes. In human populations where prognathism is not the norm, it may be a malformation, the result of injury, a disease state or a hereditary condition. Prognathis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lentigo
A lentigo () (plural lentigines, ) is a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin. It is a harmless (benign) hyperplasia of melanocytes which is linear in its spread. This means the hyperplasia of melanocytes is restricted to the cell layer directly above the basement membrane of the epidermis where melanocytes normally reside. This is in contrast to the "nests" of multi-layer melanocytes found in moles (melanocytic nevi). Because of this characteristic feature, the adjective "lentiginous" is used to describe other skin lesions that similarly proliferate linearly within the basal cell layer.''Random House Webster's Unabridged Dictionary.'' Random House, Inc. 2001. p. 1101. .''Robbins and Cotran Pathologic Basis of Disease'' Elsevier. 2005. p. 1232. . Diagnosis Conditions characterized by lentigines include: * Lentigo simplex * Solar lentigo (Liver spots) * PUVA lentigines * Ink spot lentigo * LEOPARD syndrome * Mucosal le ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bundle Branch Block
A bundle branch block is a defect in one the bundle branches in the electrical conduction system of the heart. Anatomy and physiology The heart's electrical activity begins in the sinoatrial node (the heart's natural pacemaker), which is situated on the upper right atrium. The impulse travels next through the left and right atria and summates at the atrioventricular node. From the AV node the electrical impulse travels down the bundle of His and divides into the right and left bundle branches. The right bundle branch contains one fascicle. The left bundle branch subdivides into two fascicles: the left anterior fascicle, and the left posterior fascicle. Other sources divide the left bundle branch into three fascicles: the left anterior, the left posterior, and the left septal fascicle. The thicker left posterior fascicle bifurcates, with one fascicle being in the septal aspect. Ultimately, the fascicles divide into millions of Purkinje fibres, which in turn interdigitate with ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Electrical Conduction
Electrical resistivity (also called specific electrical resistance or volume resistivity) is a fundamental property of a material that measures how strongly it resists electric current. A low resistivity indicates a material that readily allows electric current. Resistivity is commonly represented by the Greek letter (rho). The SI unit of electrical resistivity is the ohm-meter (Ω⋅m). For example, if a solid cube of material has sheet contacts on two opposite faces, and the resistance between these contacts is , then the resistivity of the material is . Electrical conductivity or specific conductance is the reciprocal of electrical resistivity. It represents a material's ability to conduct electric current. It is commonly signified by the Greek letter (sigma), but (kappa) (especially in electrical engineering) and (gamma) are sometimes used. The SI unit of electrical conductivity is siemens per metre (S/m). Resistivity and conductivity are intensi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Electrocardiographic
Electrocardiography is the process of producing an electrocardiogram (ECG or EKG), a recording of the heart's electrical activity. It is an electrogram of the heart which is a graph of voltage versus time of the electrical activity of the heart using electrodes placed on the skin. These electrodes detect the small electrical changes that are a consequence of cardiac muscle depolarization followed by repolarization during each cardiac cycle (heartbeat). Changes in the normal ECG pattern occur in numerous cardiac abnormalities, including cardiac rhythm disturbances (such as atrial fibrillation and ventricular tachycardia), inadequate coronary artery blood flow (such as myocardial ischemia and myocardial infarction), and electrolyte disturbances (such as hypokalemia and hyperkalemia). Traditionally, "ECG" usually means a 12-lead ECG taken while lying down as discussed below. However, other devices can record the electrical activity of the heart such as a Holter monitor but also so ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypopigmentation
Hypopigmentation is characterized specifically as an area of skin becoming lighter than the baseline skin color, but not completely devoid of pigment. This is not to be confused with depigmentation, which is characterized as the absence of all pigment. It is caused by melanocyte or melanin depletion, or a decrease in the amino acid tyrosine, which is used by melanocytes to make melanin. Some common genetic causes include mutations in the tyrosinase gene or OCA2 gene. As melanin pigments tend to be in the skin, eye, and hair, these are the commonly affected areas in those with hypopigmentation. Hypopigmentation is common and approximately one in twenty have at least one hypopigmented macule. Hypopigmentation can be upsetting to some, especially those with darker skin whose hypopigmentation marks are seen more visibly. Most causes of hypopigmentation are not serious and can be easily treated. Presentation Associated conditions It is seen in: * Albinism * Idiopathic guttate hypo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vitiligo
Vitiligo is a disorder that causes the skin to lose its color. Specific causes are unknown but studies suggest a link to immune system changes. Signs and symptoms The only sign of vitiligo is the presence of pale patchy areas of depigmented skin which tend to occur on the extremities. Some people may experience itching before a new patch occurs. The patches are initially small, but often grow and change shape. When skin lesions occur, they are most prominent on the face, hands and wrists. The loss of skin pigmentation is particularly noticeable around body orifices, such as the mouth, eyes, nostrils, genitalia and umbilicus. Some lesions have increased skin pigment around the edges. Those affected by vitiligo who are stigmatized for their condition may experience depression and similar mood disorders. File:Vitiligo03.jpg, Vitiligo on lighter skin File:Vitiligo1.JPG, Non-segmental vitiligo on dark skin, hand facing up File:Eyelid vitiligo 06.jpg, Non-segmental vitilig ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sclera
The sclera, also known as the white of the eye or, in older literature, as the tunica albuginea oculi, is the opaque, fibrous, protective, outer layer of the human eye containing mainly collagen and some crucial elastic fiber. In humans, and some other vertebrates, the whole sclera is white, contrasting with the coloured iris, but in most mammals, the visible part of the sclera matches the colour of the iris, so the white part does not normally show while other vertebrates have distinct colors for both of them. In the development of the embryo, the sclera is derived from the neural crest. In children, it is thinner and shows some of the underlying pigment, appearing slightly blue. In the elderly, fatty deposits on the sclera can make it appear slightly yellow. People with dark skin can have naturally darkened sclerae, the result of melanin pigmentation. The human eye is relatively rare for having a pale sclera (relative to the iris). This makes it easier for one individual t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cheek
The cheeks ( la, buccae) constitute the area of the face below the eyes and between the nose and the left or right ear. "Buccal" means relating to the cheek. In humans, the region is innervated by the buccal nerve. The area between the inside of the cheek and the teeth and gums is called the vestibule or buccal pouch or buccal cavity and forms part of the mouth. In other animals the cheeks may also be referred to as jowls. Structure Humans Cheeks are fleshy in humans, the skin being suspended by the chin and the jaws, and forming the lateral wall of the human mouth, visibly touching the cheekbone below the eye. The inside of the cheek is lined with a mucous membrane (buccal mucosa, part of the oral mucosa). During mastication (chewing), the cheeks and tongue between them serve to keep the food between the teeth. Other animals The cheeks are covered externally by hairy skin, and internally by stratified squamous epithelium. This is mostly smooth, but may have caudally dir ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
