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Lymphedema–distichiasis Syndrome
Lymphedema–distichiasis syndrome is a medical condition associated with the FOXC2 gene. People with this hereditary condition have a double row of eyelashes, which is called ''distichiasis'', and a risk of swollen limbs due to problems in the lymphatic system. Genetics Lymphedema-distichiasis is inherited in an autosomal dominant fashion. It is estimated that only of diagnosed individuals did not inherit the condition but rather acquired the syndrome via a de novo mutation. Symptoms emerge between the life stages of puberty to early adulthood (around 30 years old). This is the result of a mutation in the FOXC2 gene. Mutations p.Y41F, a missense mutation, is also located in FOXC2 AD-1. p.Y41F is one of eleven mutations found in the FOXC2 gene. It was determined that of these 11 mutations, one was nonsense, six were missense, and four were frameshift mutations. Symptoms The main symptoms of lymphedema-distichiasis are limb swelling and a double row of eyelashes. Sympto ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FOXC2
Forkhead box protein C2 (FOXC2) also known as forkhead-related protein FKHL14 (FKHL14), transcription factor FKH-14, or mesenchyme fork head protein 1 (MFH1) is a protein that in humans is encoded by the ''FOXC2'' gene. FOXC2 is a member of the fork head box (FOX) family of transcription factors. Structure and function The protein is 501 amino acids in length. The gene has no introns; the single exon is approximately 1.5kb in size. FOX transcription factors are expressed during development and are associated with a number of cellular and developmental differentiation processes. FOXC2 is required during early development of the kidneys, including differentiation of podocytes and maturation of the glomerular basement membrane. It is also involved in the early development of the heart. An increased expression of FOXC2 in adipocytes can increase the amount of brown adipose tissue leading to lower weight and an increased sensitivity to insulin. Role in disease Absence of FOXC2 h ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Condition
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known genet ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Eyelash
An eyelash (also called lash) (Latin: ''Cilia'') is one of the hairs that grows at the edge of the eyelids. It grows in one layer on the edge of the upper and lower eyelids. Eyelashes protect the eye from debris, dust, and small particles and perform some of the same functions as whiskers do on a cat or a mouse in the sense that they are sensitive to being touched, thus providing a warning that an object (such as an insect) is near the eye (which then closes reflexively). The Ancient Greek word for eyelash is βλέφαρον (transliterated as blepharon), which is seen as a root in biological terms like ''Blephara''. Structure Development The eyelashes of the human embryo develop from the ectoderm between the 22nd and 26th week of pregnancy. Natural eyelashes do not grow beyond a certain length, and fall off by themselves without any need for trimming. Eyelashes take about seven to eight weeks to grow back if pulled out, but constant pulling may lead to permanent damage. Their ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Distichiasis
A distichia is an eyelash that arises from an abnormal part of the eyelid. This abnormality, attributed to a genetic mutation, is known to affect dogs and humans. Distichiae usually exit from the duct of the meibomian gland at the eyelid margin. They are usually multiple, and sometimes more than one arises from a duct. They can affect either the upper or lower eyelid and are usually bilateral. The lower eyelids of dogs usually have no eyelashes. Distichiae usually cause no symptoms, because the lashes are soft, but they can irritate the eye and cause tearing, squinting, inflammation, Corneal ulcers in animals, corneal ulcers and scarring. Treatment options include manual removal, electrology, electrolysis, cauterization, electrocautery, Carbon dioxide laser, CO2 laser ablation, cryosurgery, cryotherapy, and surgery. Commonly affected breeds In veterinary medicine, some canine breeds are affected by distichiasis more frequently than others: *Cocker Spaniel *Dachshund (especially th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lymph System
The lymphatic system, or lymphoid system, is an organ system in vertebrates that is part of the immune system, and complementary to the circulatory system. It consists of a large network of lymphatic vessels, lymph nodes, lymphatic or lymphoid organs, and lymphoid tissues. The vessels carry a clear fluid called lymph (the Latin word ''lympha'' refers to the deity of fresh water, "Lympha") back towards the heart, for re-circulation. Unlike the circulatory system that is a closed system, the lymphatic system is open. The human circulatory system processes an average of 20 litres of blood per day through capillary filtration, which removes plasma from the blood. Roughly 17 litres of the filtered blood is reabsorbed directly into the blood vessels, while the remaining three litres are left in the interstitial fluid. One of the main functions of the lymphatic system is to provide an accessory return route to the blood for the surplus three litres. The other main function is that of i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sanger Sequencing
Sanger sequencing is a method of DNA sequencing that involves electrophoresis and is based on the random incorporation of chain-terminating dideoxynucleotides by DNA polymerase during in vitro DNA replication. After first being developed by Frederick Sanger and colleagues in 1977, it became the most widely used sequencing method for approximately 40 years. It was first commercialized by Applied Biosystems in 1986. More recently, higher volume Sanger sequencing has been replaced by next generation sequencing methods, especially for large-scale, automated genome analyses. However, the Sanger method remains in wide use for smaller-scale projects and for validation of deep sequencing results. It still has the advantage over short-read sequencing technologies (like Illumina) in that it can produce DNA sequence reads of > 500 nucleotides and maintains a very low error rate with accuracies around 99.99%. Sanger sequencing is still actively being used in efforts for public health initiative ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cellulitis
Cellulitis is usually a bacterial infection involving the inner layers of the skin. It specifically affects the dermis and subcutaneous fat. Signs and symptoms include an area of redness which increases in size over a few days. The borders of the area of redness are generally not sharp and the skin may be swollen. While the redness often turns white when pressure is applied, this is not always the case. The area of infection is usually painful. Lymphatic vessels may occasionally be involved, and the person may have a fever and feel tired. The legs and face are the most common sites involved, although cellulitis can occur on any part of the body. The leg is typically affected following a break in the skin. Other risk factors include obesity, leg swelling, and old age. For facial infections, a break in the skin beforehand is not usually the case. The bacteria most commonly involved are streptococci and '' Staphylococcus aureus''. In contrast to cellulitis, erysipelas is a bacte ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lymphedema
Lymphedema, also known as lymphoedema and lymphatic edema, is a condition of localized swelling caused by a compromised lymphatic system. The lymphatic system functions as a critical portion of the body's immune system and returns interstitial fluid to the bloodstream. Lymphedema is most frequently a complication of cancer treatment or parasitic infections, but it can also be seen in a number of genetic disorders. Though incurable and progressive, a number of treatments may improve symptoms. Tissues with lymphedema are at high risk of infection because the lymphatic system has been compromised. While there is no cure, treatment may improve outcomes. This commonly include compression therapy, good skin care, exercise, and manual lymphatic drainage (MLD), which together are known as combined decongestive therapy. Diuretics are not useful. Signs and symptoms The most common manifestation of lymphedema is soft tissue swelling, edema. As the disorder progresses, worsening edema a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aagenaes Syndrome
Aagenaes syndrome is a syndrome characterised by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts. The genetic cause is unknown, but it is autosomal recessively inherited and the gene is located to chromosome 15q1,2. A common feature of the condition is a generalised lymphoedema from birth or childhood caused by hypoplasia of the lymphatic vessels in origin1. Approximately one hundred people with this disease are known. The condition is particularly frequent in southern Norway, where more than half the cases are reported, but it is found in patients in other parts of Europe and the United States. It is named after Øystein Aagenæs, a Norwegian paediatrician. It is also called cholestasis-lymphedema syndrome (CLS). The first case of cholestasis usually improves spontaneously during preschool and early school age and re ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Cutaneous Conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against the external environment. The skin weighs an average of four kilograms, covers an area of two square metres, and is made of three distinct layers: the epidermis, dermis, and subcutaneous tissue. The two main types of human skin are: glabrous skin, the hairless skin on the palms and soles (also referred to as the "palmoplantar" surfaces), and hair-bearing skin.Burns, Tony; ''et al''. (2006) ''Rook's Textbook of Dermatology CD-ROM''. Wiley-Blackwell. . Within the latter type, the hairs occur in structures called pilosebaceous units, each with hair follicle, sebaceous gland, and associated arrector pili muscle. In the embryo, the epidermis, hair, and glands form from the ectoderm, which is chemically influenced by the underlying mesoderm th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
