Cantú Syndrome
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Cantú Syndrome
Cantú syndrome is a rare condition characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly.Initial posting 2014 Fewer than 50 cases have been described in the literature; they are associated with a mutation in the ''ABCC9''-gene that codes for the ABCC9-protein. Signs and symptoms The main features of this condition are hypertrichosis, osteochondrodysplasia, and cardiomegaly. There is also a characteristic Facies (medical), facies. Other features include patent ductus arteriosus, congenital hypertrophy of the left ventricle, and pericardial effusions. Neurodevelopmental outcome appears normal, but obsessive traits and anxiety have been reported. It may also be associated with recurrent infections with low immunoglobulin levels and gastric bleeding, and additional possible associations include lymphoedema and heterochromia iridis. Cause Cantú syndrome apparently is inherited in an autosomal dominant fashion and appears to be affected by the ''ABCC9'' gene. A ...
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Hypertrichosis
Hypertrichosis (sometimes known as werewolf syndrome) is an abnormal amount of hair growth over the body. The two distinct types of hypertrichosis are generalized hypertrichosis, which occurs over the entire body, and localized hypertrichosis, which is restricted to a certain area. Hypertrichosis can be either congenital (present at birth) or acquired later in life. The excess growth of hair occurs in areas of the skin with the exception of androgen-dependent hair of the pubic area, face, and axillary regions. Several circus sideshow performers in the 19th and early 20th centuries, such as Julia Pastrana, had hypertrichosis. Many of them worked as freaks and were promoted as having distinct human and animal traits. Classification Two methods of classification are used for hypertrichosis. One divides them into either generalized versus localized hypertrichosis, while the other divides them into congenital versus acquired. Congenital Congenital forms of hypertrichosis are ...
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Blood Vessel
Blood vessels are the tubular structures of a circulatory system that transport blood throughout many Animal, animals’ bodies. Blood vessels transport blood cells, nutrients, and oxygen to most of the Tissue (biology), tissues of a Body (biology), body. They also take waste and carbon dioxide away from the tissues. Some tissues such as cartilage, epithelium, and the lens (anatomy), lens and cornea of the eye are not supplied with blood vessels and are termed ''avascular''. There are five types of blood vessels: the arteries, which carry the blood away from the heart; the arterioles; the capillaries, where the exchange of water and chemicals between the blood and the tissues occurs; the venules; and the veins, which carry blood from the capillaries back towards the heart. The word ''vascular'', is derived from the Latin ''vas'', meaning ''vessel'', and is mostly used in relation to blood vessels. Etymology * artery – late Middle English; from Latin ''arteria'', from Gree ...
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List Of Cutaneous Conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the Human body, body and composed of Human skin, skin, hair, Nail (anatomy), 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 (skin), 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. Embryology, In the embryo, the epidermis, hair, and glands form from the ectod ...
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Atrichia With Papular Lesions
Atrichia with papular lesions (a.k.a. "Papular atrichia") is a diffuse hair loss caused by an abnormality of the human homologue of the mouse hairless gene.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. .James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . It is associated with HR. See also * Cicatricial alopecia * List of cutaneous conditions Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the Human body, body and composed of Human skin, skin, hair, Nail (anatomy), nails, and related muscle and glands. The major function o ... References External links Genodermatoses Conditions of the skin appendages {{Genodermatoses-stub ...
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Scoliosis
Scoliosis (: scolioses) is a condition in which a person's Vertebral column, spine has an irregular curve in the coronal plane. The curve is usually S- or C-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not typically cause problems, but more severe cases can affect breathing and movement. Pain is usually present in adults, and can worsen with age. As the condition progresses, it may alter a person's life, and hence can also be considered a disability. It can be compared to kyphosis and lordosis, other abnormal curvatures of the spine which are in the sagittal plane (front-back) rather than the coronal (left-right). The cause of most cases is unknown, but it is believed to involve a combination of Genetics, genetic and environmental factors. Scoliosis most often occurs during growth spurts right before puberty. Risk factors include other affected family members. It can also occur due to anoth ...
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Surgical
Surgery is a medical specialty that uses manual and instrumental techniques to diagnose or treat pathological conditions (e.g., trauma, disease, injury, malignancy), to alter bodily functions (e.g., malabsorption created by bariatric surgery such as gastric bypass), to reconstruct or alter aesthetics and appearance ( cosmetic surgery), or to remove unwanted tissues (body fat, glands, scars or skin tags) or foreign bodies. The act of performing surgery may be called a surgical procedure or surgical operation, or simply "surgery" or "operation". In this context, the verb "operate" means to perform surgery. The adjective surgical means pertaining to surgery; e.g. surgical instruments, surgical facility or surgical nurse. Most surgical procedures are performed by a pair of operators: a surgeon who is the main operator performing the surgery, and a surgical assistant who provides in-procedure manual assistance during surgery. Modern surgical operations typically require a surgi ...
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Berardinelli-Seip Congenital Lipodystrophy
Congenital generalized lipodystrophy (also known as Berardinelli–Seip lipodystrophy) is an extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. It is a type of lipodystrophy disorder where the magnitude of fat loss determines the severity of metabolic complications. Only 250 cases of the condition have been reported, and it is estimated that it occurs in 1 in 10 million people worldwide. Presentation Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder which manifests with insulin resistance, absence of subcutaneous fat and muscular hypertrophy. Homozygous or compound heterozygous mutations in four genes are associated with the four subtypes of CGL. The condition appears in early childhood with accelerated linear growth, quick aging of bones, and a large appetite. As the child grows up, acanthosis nigricans (hyperpigmentation and thickening of skin) will begin to present itself th ...
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Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy (HCM, or HOCM when obstructive) is a condition in which muscle tissues of the heart become thickened without an obvious cause. The parts of the heart most commonly affected are the interventricular septum and the ventricles. This results in the heart being less able to pump blood effectively and also may cause electrical conduction problems. Specifically, within the bundle branches that conduct impulses through the interventricular septum and into the Purkinje fibers, as these are responsible for the depolarization of contractile cells of both ventricles. People who have HCM may have a range of symptoms. People may be asymptomatic, or may have fatigue, leg swelling, and shortness of breath. It may also result in chest pain or fainting. Symptoms may be worse when the person is dehydrated. Complications may include heart failure, an irregular heartbeat, and sudden cardiac death. HCM is most commonly inherited in an autosomal dominant pattern. I ...
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Echocardiogram
Echocardiography, also known as cardiac ultrasound, is the use of ultrasound to examine the heart. It is a type of medical imaging, using standard ultrasound or Doppler ultrasound. The visual image formed using this technique is called an echocardiogram, a cardiac echo, or simply an echo. Echocardiography is routinely used in the diagnosis, management, and follow-up of patients with any suspected or known heart diseases. It is one of the most widely used diagnostic imaging modalities in cardiology. It can provide a wealth of helpful information, including the size and shape of the heart (internal chamber size quantification), pumping capacity, location and extent of any tissue damage, and assessment of valves. An echocardiogram can also give physicians other estimates of heart function, such as a calculation of the cardiac output, ejection fraction, and diastolic function (how well the heart relaxes). Echocardiography is an important tool in assessing wall motion abnormality ...
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Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breed ...
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US Navy 110718-N-QD416-015 Medical Personnel Perform An Echocardiogram On A Patient
US or Us most often refers to: * ''Us'' (pronoun), the objective case of the English first-person plural pronoun ''we'' * US, an abbreviation for the United States US, U.S., Us, us, or u.s. may also refer to: Arts and entertainment Albums * ''Us'' (Brother Ali album) or the title song, 2009 * ''Us'' (Empress Of album), 2018 * ''Us'' (Mull Historical Society album), 2003 * ''Us'' (Peter Gabriel album), 1992 * ''Us'' (EP), by Moon Jong-up, 2021 * ''Us'', by Maceo Parker, 1974 * ''Us'', mini-album by Peakboy, 2019 Songs * "Us" (James Bay song), 2018 * "Us" (Jennifer Lopez song), 2018 * "Us" (Regina Spektor song), 2004 * "Us" (Gracie Abrams song), 2024 * "Us", by Azealia Banks from '' Fantasea'', 2012 * "Us", by Celine Dion from ''Let's Talk About Love'', 1997 * "Us", by Gucci Mane from '' Delusions of Grandeur'', 2019 * "Us", by Spoon from '' Hot Thoughts'', 2017 Other media * US Festival, two 1980s California music festivals organized by Steve Wozniak * ''Us'' (1991 ...
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