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Ehlers–Danlos syndromes

Index Ehlers–Danlos syndromes

Ehlers–Danlos syndromes (EDS) are a group of genetic connective tissue disorders. [1]

125 relations: ADAMTS2, America's Got Talent, America's Got Talent (season 12), Anatomical terms of motion, Annie Segarra, Aortic aneurysm, Aortic dissection, Arterial line, Arthralgia, Arthroplasty, Ascending aorta, Ashkenazi Jews, Autostraddle, B4GALT7, Blood vessel, Boutonniere deformity, Bruise, Carpal tunnel syndrome, Central venous catheter, Cervical weakness, Charles Eisenmann, Cherylee Houston, Chiari malformation, Childbirth, Chronic fatigue syndrome, Chronic pain, CHST14, Coeliac disease, Collagen, Collagen, type I, alpha 1, Collagen, type I, alpha 2, Collagen, type III, alpha 1, Collagen, type V, alpha 1, Collagen, type V, alpha 2, Complications of pregnancy, Connective tissue disease, Cornea, Coronation Street, Cutis laxa, Daniel Browning Smith, Degenerative suspensory ligament desmitis, Denmark, Depression (mood), Dominance (genetics), Edvard Ehlers, Endocarditis, Enzyme, Eric the Actor, Fibromyalgia, France, ..., Gary Turner (sideshow performer), Gastroesophageal reflux disease, Gene, Genetic disorder, Genetic testing, Gorlin sign, Grey's Anatomy, Heart arrhythmia, Heart murmur, Henri-Alexandre Danlos, Hiatal hernia, Himalayan cat, Hippocrates, Horse, Hypermobility (joints), Hypochondriasis, Intervention (TV series), Joint, Joint dislocation, Keratoglobus, Kyphosis, Life expectancy, Livedo reticularis, Loeys–Dietz syndrome, Lysyl hydroxylase, Mandy Harvey, Marfan syndrome, Medical genetics, Menkes disease, Metacarpophalangeal joint, Mitral valve prolapse, Mutation, Myalgia, Niccolò Paganini, Orlando Sentinel, Orthotics, Osgood–Schlatter disease, Osteoarthritis, Painful fat herniation, Paresthesia, Peripheral neuropathy, Peruvian Paso, Petechia, Physical therapy, Platelet, Pneumothorax, Postural orthostatic tachycardia syndrome, Premature rupture of membranes, Protein, Pseudoxanthoma elasticum, Raynaud syndrome, Rectal prolapse, Scar, Sclera, Scleroprotein, Scoliosis, Sideshow, Skin biopsy, Small fiber peripheral neuropathy, Sprain, Subluxation, Swan neck deformity, Tenascin X, Tethered spinal cord syndrome, The BMJ, The Howard Stern Show, The International League of Dermatological Societies, Therapy, Thoracic outlet syndrome, Trendelenburg's sign, University of Georgia, Valvular heart disease, Varicose veins, Vitamin C, Yvette d'Entremont. Expand index (75 more) »

ADAMTS2

A disintegrin and metalloproteinase with thrombospondin motifs 2 (ADAM-TS2) also known as procollagen I N-proteinase (PC I-NP) is an enzyme that in humans is encoded by the ADAMTS2 gene.

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America's Got Talent

America's Got Talent (often abbreviated as AGT) is an American reality television series on the NBC television network, and part of the global Got Talent franchise.

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America's Got Talent (season 12)

Season twelve of the reality competition series America's Got Talent was ordered on August 2, 2016 and premiered on NBC on Tuesday, May 30, 2017.

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Anatomical terms of motion

Motion, the process of movement, is described using specific anatomical terms.

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Annie Segarra

Annie Segarra (born August 22, 1990), also known as Annie Elainey, is an American YouTuber, artist, and intersectional activist for LGBT and disability rights.

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Aortic aneurysm

An aortic aneurysm is an enlargement (dilation) of the aorta to greater than 1.5 times normal size.

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Aortic dissection

Aortic dissection (AD) occurs when an injury to the innermost layer of the aorta allows blood to flow between the layers of the aortic wall, forcing the layers apart.

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Arterial line

An arterial line (also art-line or a-line) is a thin catheter inserted into an artery.

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Arthralgia

Arthralgia (from Greek arthro-, joint + -algos, pain) literally means joint pain; it is a symptom of injury, infection, illnesses (in particular arthritis) or an allergic reaction to medication.

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Arthroplasty

Arthroplasty (literally "forming of joint") is an orthopedic surgical procedure where the articular surface of a musculoskeletal joint is replaced, remodeled, or realigned by osteotomy or some other procedure.

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Ascending aorta

The ascending aorta (AAo) is a portion of the aorta commencing at the upper part of the base of the left ventricle, on a level with the lower border of the third costal cartilage behind the left half of the sternum.

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Ashkenazi Jews

Ashkenazi Jews, also known as Ashkenazic Jews or simply Ashkenazim (אַשְׁכְּנַזִּים, Ashkenazi Hebrew pronunciation:, singular:, Modern Hebrew:; also), are a Jewish diaspora population who coalesced in the Holy Roman Empire around the end of the first millennium.

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Autostraddle

Autostraddle is an independently owned online magazine and social network for lesbian, bisexual, and queer women (cis and trans) as well as non-binary people.

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B4GALT7

Beta-1,4-galactosyltransferase 7 also known as galactosyltransferase I is an enzyme that in humans is encoded by the B4GALT7 gene.

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Blood vessel

The blood vessels are the part of the circulatory system, and microcirculation, that transports blood throughout the human body.

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Boutonniere deformity

Boutonniere deformity is a deformed position of the fingers or toes, in which the joint nearest the knuckle (the proximal interphalangeal joint, or PIP) is permanently bent toward the palm while the farthest joint (the distal interphalangeal joint, or DIP) is bent back away (PIP flexion with DIP hyperextension).

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Bruise

A contusion, commonly known as a bruise, is a type of hematoma of tissue in which capillaries and sometimes venules are damaged by trauma, allowing blood to seep, hemorrhage, or extravasate into the surrounding interstitial tissues.

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Carpal tunnel syndrome

Carpal tunnel syndrome (CTS) is a medical condition due to compression of the median nerve as it travels through the wrist at the carpal tunnel.

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Central venous catheter

A central venous catheter (CVC), also known as a central line, central venous line, or central venous access catheter, is a catheter placed into a large vein.

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Cervical weakness

Cervical weakness, also called cervical incompetence or cervical insufficiency, is a medical condition of pregnancy in which the cervix begins to dilate (widen) and efface (thin) before the pregnancy has reached term.

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Charles Eisenmann

Charles Eisenmann (October 5, 1855 – December 8, 1927) was a famous New York photographer during the late 1880s who worked in the Bowery district.

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Cherylee Houston

Cherylee Houston (born 1975) is a British actress.

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Chiari malformation

Chiari malformations (CMs) are structural defects in the cerebellum.

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Childbirth

Childbirth, also known as labour and delivery, is the ending of a pregnancy by one or more babies leaving a woman's uterus by vaginal passage or C-section.

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Chronic fatigue syndrome

Chronic fatigue syndrome (CFS), also referred to as myalgic encephalomyelitis (ME), is a medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities.

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Chronic pain

Chronic pain is pain that lasts a long time.

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CHST14

Carbohydrate sulfotransferase 14 is an enzyme that in humans is encoded by the CHST14 gene.

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Coeliac disease

Coeliac disease, also spelled celiac disease, is a long-term autoimmune disorder that primarily affects the small intestine.

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Collagen

Collagen is the main structural protein in the extracellular space in the various connective tissues in animal bodies.

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Collagen, type I, alpha 1

Collagen, type I, alpha 1, also known as alpha-1 type I collagen, is a protein that in humans is encoded by the COL1A1 gene.

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Collagen, type I, alpha 2

Collagen alpha-2(I) chain is a protein that in humans is encoded by the COL1A2 gene.

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Collagen, type III, alpha 1

Collagen alpha-1(III) chain is a protein that in humans is encoded by the COL3A1 gene, which is located on chromosome 2.

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Collagen, type V, alpha 1

Collagen alpha-1(V) chain is a protein that in humans is encoded by the COL5A1 gene.

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Collagen, type V, alpha 2

Collagen alpha-2(V) chain is a protein that in humans is encoded by the COL5A2 gene.

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Complications of pregnancy

Complications of pregnancy are health problems that are caused by pregnancy.

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Connective tissue disease

A connective tissue disease is any disease that has the connective tissues of the body as a target of pathology.

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Cornea

The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber.

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Coronation Street

Coronation Street (also informally referred to as Corrie) is a British soap opera created by Granada Television and shown on ITV since 9 December 1960.

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Cutis laxa

Cutis laxa (also known as chalazoderma, dermatochalasia, dermatolysis, dermatomegaly, generalized elastolysis, generalized elastorrhexis, or pachydermatoceleJames, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. Page 515..) is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.

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Daniel Browning Smith

Daniel Browning Smith, also known as The Rubberboy (born May 8, 1979), is an American contortionist, actor, television host, comedian, sports entertainer, and stuntman, who holds the title of the most flexible person in history, owning a total of seven Guinness World Records.

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Degenerative suspensory ligament desmitis

Degenerative suspensory ligament desmitis, commonly called DSLD, also known as equine systemic proteoglycan accumulation (ESPA), is a systemic disease of the connective tissue of the horse and other equines.

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Denmark

Denmark (Danmark), officially the Kingdom of Denmark,Kongeriget Danmark,.

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Depression (mood)

Depression is a state of low mood and aversion to activity that can affect a person's thoughts, behavior, tendencies, feelings, and sense of well-being.

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Dominance (genetics)

Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.

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Edvard Ehlers

Edvard Laurits Ehlers (26 March 1863 in Copenhagen – 7 May 1937) was a Danish dermatologist whose name was given to a group of genetic misfunctions of connective tissue, called Ehlers–Danlos syndrome (EDS).

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Endocarditis

Endocarditis is an inflammation of the inner layer of the heart, the endocardium.

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Enzyme

Enzymes are macromolecular biological catalysts.

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Eric the Actor

Eric Shaun Lynch (March 11, 1975 – September 20, 2014), better known as Eric the Midget and later Eric the Actor, was a member of The Howard Stern Show's Wack Pack.

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Fibromyalgia

Fibromyalgia (FM) is a medical condition characterised by chronic widespread pain and a heightened pain response to pressure.

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France

France, officially the French Republic (République française), is a sovereign state whose territory consists of metropolitan France in Western Europe, as well as several overseas regions and territories.

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Gary Turner (sideshow performer)

Gary Turner is a sideshow performer and holds the current Guinness World Record of stretchiest skin.

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Gastroesophageal reflux disease

Gastroesophageal reflux disease (GERD), also known as acid reflux, is a long-term condition where stomach contents come back up into the esophagus resulting in either symptoms or complications.

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Gene

In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.

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Genetic disorder

A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.

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Genetic testing

Genetic testing, also known as DNA testing, allows the determination of bloodlines and the genetic diagnosis of vulnerabilities to inherited diseases.

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Gorlin sign

In medicine, Gorlin sign is the ability to touch the tip of the nose with the tongue.

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Grey's Anatomy

Grey's Anatomy is an American medical drama television series that premiered on March 27, 2005, on the American Broadcasting Company (ABC) as a mid-season replacement.

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Heart arrhythmia

Heart arrhythmia (also known as arrhythmia, dysrhythmia, or irregular heartbeat) is a group of conditions in which the heartbeat is irregular, too fast, or too slow.

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Heart murmur

Heart murmurs are heart sounds produced when blood flows across one of the heart valves that are loud enough to be heard with a stethoscope.

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Henri-Alexandre Danlos

Henri-Alexandre Danlos (26 March 1844 – 12 September 1912) was a French physician and dermatologist born in Paris.

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Hiatal hernia

A hiatal hernia is a type of hernia in which abdominal organs (typically the stomach) slip through the diaphragm into the middle compartment of the chest.

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Himalayan cat

The Himalayan (a.k.a. Himalayan Persian, or Colourpoint Persian as it is commonly referred to in Europe), is a breed or sub-breed of long-haired cat identical in type to the Persian, with the exception of its blue eyes and its point colouration, which were derived from crossing the Persian with the Siamese.

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Hippocrates

Hippocrates of Kos (Hippokrátēs ho Kṓos), also known as Hippocrates II, was a Greek physician of the Age of Pericles (Classical Greece), and is considered one of the most outstanding figures in the history of medicine.

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Horse

The horse (Equus ferus caballus) is one of two extant subspecies of ''Equus ferus''.

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Hypermobility (joints)

Hypermobility, also known as double-jointedness, describes joints that stretch farther than normal.

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Hypochondriasis

Hypochondriasis or hypochondria is a condition in which a person is excessively and unduly worried about having a serious illness.

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Intervention (TV series)

Intervention is an American documentary television series that premiered on March 6, 2005 on A&E.

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Joint

A joint or articulation (or articular surface) is the connection made between bones in the body which link the skeletal system into a functional whole.

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Joint dislocation

A joint dislocation, also called luxation, occurs when there is an abnormal separation in the joint, where two or more bones meet.

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Keratoglobus

Keratoglobus (from Greek: kerato- horn, cornea; and Latin: globus round), is a degenerative non-inflammatory disorder of the eye in which structural changes within the cornea cause it to become extremely thin and change to a more globular shape than its normal gradual curve.

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Kyphosis

Kyphosis (from Greek κυφός kyphos, a hump) is an abnormally excessive convex kyphotic curvature of the spine as it occurs in the cervical, thoracic and sacral regions.

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Life expectancy

Life expectancy is a statistical measure of the average time an organism is expected to live, based on the year of its birth, its current age and other demographic factors including gender.

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Livedo reticularis

Livedo reticularis is a common skin finding consisting of a mottled reticulated vascular pattern that appears as a lace-like purplish discoloration of the skin.

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Loeys–Dietz syndrome

Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder.

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Lysyl hydroxylase

Lysyl hydroxylases (or procollagen-lysine 5-dioxygenases) are alpha-ketoglutarate-dependent hydroxylases enzymes that catalyze the hydroxylation of lysine to hydroxylysine.

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Mandy Harvey

Amanda Lynn Harvey (born January 2, 1988) is an American jazz and pop singer and songwriter who is deaf and who took part in the 12th season of America's Got Talent.

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Marfan syndrome

Marfan syndrome (MFS) is a genetic disorder of the connective tissue.

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Medical genetics

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.

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Menkes disease

Menkes disease (MNK), also known as Menkes syndrome, is an X-linked recessive disorder caused by mutations in genes coding for the copper-transport protein ATP7A, leading to copper deficiency.

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Metacarpophalangeal joint

The metacarpophalangeal joints (MCP) are situated between the metacarpal bones and the proximal phalanges of the digits.

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Mitral valve prolapse

Mitral valve prolapse (MVP; a.k.a. floppy mitral valve syndrome, systolic click murmur syndrome or billowing mitral leaflet) is a valvular heart disease characterized by the displacement of an abnormally thickened mitral valve leaflet into the left atrium during systole.

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Mutation

In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.

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Myalgia

Myalgia, or muscle pain, is a symptom of many diseases and disorders.

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Niccolò Paganini

Niccolò (or Nicolò) Paganini (27 October 178227 May 1840) was an Italian violinist, violist, guitarist, and composer.

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Orlando Sentinel

The Orlando Sentinel is the primary newspaper of Orlando, Florida and the Central Florida region.

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Orthotics

Orthotics (Greek: Ορθός, ortho, "to straighten" or "align") is a specialty within the medical field concerned with the design, manufacture and application of orthoses.

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Osgood–Schlatter disease

Osgood–Schlatter disease (OSD), also known as apophysitis of the tibial tubercle, is inflammation of the patellar ligament at the tibial tuberosity.

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Osteoarthritis

Osteoarthritis (OA) is a type of joint disease that results from breakdown of joint cartilage and underlying bone.

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Painful fat herniation

Painful fat herniation, described as painful feet due to fat herniations through the thin fascial layers of the weight-bearing parts of the heel is rare, piezogenic pedal papules or Piezogenic papules are very common.

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Paresthesia

Paresthesia is an abnormal sensation such as tingling, tickling, pricking, numbness or burning of a person's skin with no apparent physical cause.

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Peripheral neuropathy

Peripheral neuropathy (PN) is damage to or disease affecting nerves, which may impair sensation, movement, gland or organ function, or other aspects of health, depending on the type of nerve affected.

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Peruvian Paso

The Peruvian Paso or Peruvian Horse is a breed of light saddle horse known for its smooth ride.

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Petechia

A petechia, plural petechiae, is a small (1–2 mm) red or purple spot on the skin, caused by a minor bleed from broken capillary blood vessels.

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Physical therapy

Physical therapy (PT), also known as physiotherapy, is one of the allied health professions that, by using mechanical force and movements (bio-mechanics or kinesiology), manual therapy, exercise therapy, and electrotherapy, remediates impairments and promotes mobility and function.

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Platelet

Platelets, also called thrombocytes (from Greek θρόμβος, "clot" and κύτος, "cell"), are a component of blood whose function (along with the coagulation factors) is to react to bleeding from blood vessel injury by clumping, thereby initiating a blood clot.

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Pneumothorax

A pneumothorax is an abnormal collection of air in the pleural space between the lung and the chest wall.

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Postural orthostatic tachycardia syndrome

Postural orthostatic tachycardia syndrome (POTS) is a condition in which a change from lying to standing causes an abnormally large increase in heart rate.

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Premature rupture of membranes

Premature rupture of membranes (PROM), or pre-labor rupture of membranes, is a condition that can occur in pregnancy.

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Protein

Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues.

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Pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE), also known as Grönblad–Strandberg syndrome, is a genetic disease that causes fragmentation and mineralization of elastic fibers in some tissues.

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Raynaud syndrome

Raynaud syndrome, also known as Raynaud's phenomenon, is a medical condition in which spasm of arteries cause episodes of reduced blood flow.

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Rectal prolapse

Rectal prolapse often used to mean complete rectal prolapse (external rectal prolapse), where the rectal walls have prolapsed to a degree where they protrude out the anus and are visible outside the body.

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Scar

A scar is an area of fibrous tissue that replaces normal skin after an injury.

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Sclera

The sclera, also known as the white of the eye, is the opaque, fibrous, protective, outer layer of the human eye containing mainly collagen and some elastic fiber.

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Scleroprotein

Scleroproteins or fibrous proteins constitute one of the three main types of proteins (alongside globular and membrane proteins).

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Scoliosis

Scoliosis is a medical condition in which a person's spine has a sideways curve.

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Sideshow

In America, a sideshow is an extra, secondary production associated with a circus, carnival, fair, or other such attraction.

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Skin biopsy

Skin biopsy is a biopsy technique in which a skin lesion is removed to be sent to a pathologist to render a microscopic diagnosis.

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Small fiber peripheral neuropathy

Small fiber peripheral neuropathy is a type of peripheral neuropathy that occurs from damage to the small unmyelinated peripheral nerve fibers.

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Sprain

A sprain, also known as a torn ligament, is damage to one or more ligaments in a joint, often caused by trauma or the joint being taken beyond its functional range of motion.

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Subluxation

In medicine, a subluxation is an incomplete or partial dislocation of a joint or organ.

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Swan neck deformity

Swan neck deformity is a deformed position of the finger, in which the joint closest to the fingertip is permanently bent toward the palm while the nearest joint to the palm is bent away from it (DIP flexion with PIP hyperextension).

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Tenascin X

A member of the tenascin family, tenascin X (TN-X) also known as hexabrachion-like protein is a glycoprotein that is expressed in connective tissues including skin, joints and muscles.

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Tethered spinal cord syndrome

Tethered cord syndrome (TCS) or occult spinal dysraphism sequence refers to a group of neurological disorders that relate to malformations of the spinal cord.

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The BMJ

The BMJ is a weekly peer-reviewed medical journal.

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The Howard Stern Show

The Howard Stern Show is an American talk radio show hosted by Howard Stern.

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The International League of Dermatological Societies

The International League of Dermatological Societies (ILDS) is a non-governmental organization that works closely with the World Health Organization.

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Therapy

Therapy (often abbreviated tx, Tx, or Tx) is the attempted remediation of a health problem, usually following a diagnosis.

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Thoracic outlet syndrome

Thoracic outlet syndrome (TOS) is a condition in which there is compression of the nerves, arteries, or veins in the passageway from the lower neck to the armpit.

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Trendelenburg's sign

Trendelenburg's sign is found in people with weak or paralyzed abductor muscles of the hip, namely gluteus medius and gluteus minimus.

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University of Georgia

The University of Georgia, also referred to as UGA or simply Georgia, is an American public comprehensive research university.

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Valvular heart disease

Valvular heart disease is any disease process involving one or more of the four valves of the heart (the aortic and bicuspid valves on the left side of heart and the pulmonary and tricuspid valves on the right side of heart. These conditions occur largely as a consequence of aging,Burden of valvular heart diseases: a population-based study. Nkomo VT, Gardin JM, Skelton TN, Gottdiener JS, Scott CG, Enriquez-Sarano. Lancet. 2006 Sep;368(9540):1005-11. but may also be the result of congenital (inborn) abnormalities or specific disease or physiologic processes including rheumatic heart disease and pregnancy. Anatomically, the valves are part of the dense connective tissue of the heart known as the cardiac skeleton and are responsible for the regulation of blood flow through the heart and great vessels. Valve failure or dysfunction can result in diminished heart functionality, though the particular consequences are dependent on the type and severity of valvular disease. Treatment of damaged valves may involve medication alone, but often involves surgical valve repair (valvuloplasty) or replacement (insertion of an artificial heart valve).

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Varicose veins

Varicose veins are veins that have become enlarged and twisted.

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Vitamin C

Vitamin C, also known as ascorbic acid and L-ascorbic acid, is a vitamin found in food and used as a dietary supplement.

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Yvette d'Entremont

Yvette d'Entremont, also known as SciBabe, is a public speaker, science blogger, and former analytical chemist.

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References

[1] https://en.wikipedia.org/wiki/Ehlers–Danlos_syndromes

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