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Marfanoid–progeroid–lipodystrophy Syndrome
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare medical condition which manifests as a variety of symptoms including those usually associated with Marfan syndrome, an appearance resembling that seen in neonatal progeroid syndrome (NPS; also known as Wiedemann–Rautenstrauch syndrome), and severe partial lipodystrophy. It is a genetic condition that is caused by mutations in the ''FBN1'' gene, which encodes profibrillin, and affects the cleavage products of profibrillin, fibrillin-1, a fibrous structural protein, and asprosin, a glucogenic protein hormone. As of 2016, fewer than 10 cases of the condition have been reported. Lizzie Velásquez and Abby Solomon have become known publicly through the media for having the condition. In addition to severe lipodystrophy (loss of adipose tissue), individuals with MPL show a concomitant marked loss of lean tissue mass, which ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Profibrillin
Fibrillin-1 is a protein that in humans is encoded by the ''FBN1'' gene, located on chromosome 15. It is a large, extracellular matrix glycoprotein that serves as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations altering the protein can result in a variety of phenotypic effects differing widely in their severity, including fetal death, developmental problems, Marfan syndrome or in some cases Weill-Marchesani syndrome. ''FBN1'' gene ''FBN1'' is a 230-kb gene with 65 coding exons that encode a 2,871-amino-acid long proprotein called profibrillin which is proteolytically cleaved near its C-terminus by the enzyme furin convertase to give fibrillin-1, a member of the fibrillin family, and the 140-amino-acid long protein hormone asprosin. FBN-1 protein structure The sequence of fibrillin-1 includes 47 six-cysteine EGF-like domain ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lizzie Velásquez
Elizabeth Anne Velásquez (; born March 13, 1989) is an American motivational speaker, activist, author, and YouTuber. She was born with an extremely rare congenital disease called Marfanoid–progeroid–lipodystrophy syndrome that, among other symptoms, prevents her from accumulating body fat and gaining weight. Her conditions resulted in bullying during her childhood. During her teenage years, she faced cyberbullying, which ultimately inspired her to take up motivational speaking. Early life The eldest of three children born to Rita and Guadalupe Velásquez, Lizzie was born on March 13, 1989, in Austin, Texas. She was born four weeks prematurely and weighed less than 2 pounds 11 ounces (1,219 grams). Velásquez studied at Texas State UniversityTexas Woman Can't Ga ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chest
The thorax or chest is a part of the anatomy of humans, mammals, and other tetrapod animals located between the neck and the abdomen. In insects, crustaceans, and the extinct trilobites, the thorax is one of the three main divisions of the creature's body, each of which is in turn composed of multiple segments. The human thorax includes the thoracic cavity and the thoracic wall. It contains organs including the heart, lungs, and thymus gland, as well as muscles and various other internal structures. Many diseases may affect the chest, and one of the most common symptoms is chest pain. Etymology The word thorax comes from the Greek θώραξ ''thorax'' "breastplate, cuirass, corslet" via la, thorax. Plural: ''thoraces'' or ''thoraxes''. Human thorax Structure In humans and other hominids, the thorax is the chest region of the body between the neck and the abdomen, along with its internal organs and other contents. It is mostly protected and supported by the rib cage, spine, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Torso
The torso or trunk is an anatomical term for the central part, or the core, of the body of many animals (including humans), from which the head, neck, limbs, tail and other appendages extend. The tetrapod torso — including that of a human — is usually divided into the ''thoracic'' segment (also known as the upper torso, where the forelimbs extend), the ''abdominal'' segment (also known as the "mid-section" or "midriff"), and the ''pelvic'' and '' perineal'' segments (sometimes known together with the abdomen as the lower torso, where the hindlimbs extend). Anatomy Major organs In humans, most critical organs, with the notable exception of the brain, are housed within the torso. In the upper chest, the heart and lungs are protected by the rib cage, and the abdomen contains most of the organs responsible for digestion: the stomach, which breaks down partially digested food via gastric acid; the liver, which respectively produces bile necessary for digestion; the large and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Subcutaneous Fat
The subcutaneous tissue (), also called the hypodermis, hypoderm (), subcutis, superficial fascia, is the lowermost layer of the integumentary system in vertebrates. The types of cells found in the layer are fibroblasts, adipose cells, and macrophages. The subcutaneous tissue is derived from the mesoderm, but unlike the dermis, it is not derived from the mesoderm's dermatome region. It consists primarily of loose connective tissue, and contains larger blood vessels and nerves than those found in the dermis. It is a major site of fat storage in the body. In arthropods, a hypodermis can refer to an epidermal layer of cells that secretes the chitinous cuticle. The term also refers to a layer of cells lying immediately below the epidermis of plants. Structure * Fibrous bands anchoring the skin to the deep fascia * Collagen and elastin fibers attaching it to the dermis * Fat is absent from the eyelids, clitoris, penis, much of pinna, and scrotum * Blood vessels on route to the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Buttocks
The buttocks (singular: buttock) are two rounded portions of the exterior anatomy of most mammals, located on the posterior of the pelvic region. In humans, the buttocks are located between the lower back and the perineum. They are composed of a layer of exterior skin and underlying subcutaneous fat superimposed on a left and right gluteus maximus and gluteus medius muscles. The two gluteus maximus muscles are the largest muscles in the human body. They are responsible for movements such as straightening the body into the upright (standing) posture when it is bent at the waist; maintaining the body in the upright posture by keeping the hip joints extended; and propelling the body forward via further leg (hip) extension when walking or running. In the seated position, the buttocks bear the weight of the upper body and take that weight off the feet. In many cultures, the buttocks play a role in sexual attraction. Many cultures have also used the buttocks as a primary target f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anatomical Terms Of Location
Standard anatomical terms of location are used to unambiguously describe the anatomy of animals, including humans. The terms, typically derived from Latin or Greek roots, describe something in its standard anatomical position. This position provides a definition of what is at the front ("anterior"), behind ("posterior") and so on. As part of defining and describing terms, the body is described through the use of anatomical planes and anatomical axes. The meaning of terms that are used can change depending on whether an organism is bipedal or quadrupedal. Additionally, for some animals such as invertebrates, some terms may not have any meaning at all; for example, an animal that is radially symmetrical will have no anterior surface, but can still have a description that a part is close to the middle ("proximal") or further from the middle ("distal"). International organisations have determined vocabularies that are often used as standard vocabularies for subdisciplines of anatom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Limb (anatomy)
A limb (from the Old English ''lim'', meaning "body part") or leg is a jointed, muscled appendage that tetrapod vertebrates use for weight-bearing and terrestrial locomotion such as walking, running and jumping, for paddle-swimming, or for grasping and climbing. The distalmost portion of a limb is known as its extremity. The limbs' bony endoskeleton, known as the appendicular skeleton, is homologous among all tetrapods. All tetrapods have four limbs that are organized into two bilaterally symmetrical pairs, with one pair at each end of the torso. The cranial pair are known as the forelimbs or ''front legs'', and the caudal pair the hindlimbs or ''back legs''. In animals with more upright posture (mainly hominid primates, particularly humans), the forelimbs and hindlimbs are often called upper and lower limbs, respectively. The fore-/upper limbs are connected to the thoracic cage via the shoulder girdles, and the hind-/lower limbs are connected to the pelvis via the hip ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anatomical Terms Of Location
Standard anatomical terms of location are used to unambiguously describe the anatomy of animals, including humans. The terms, typically derived from Latin or Greek roots, describe something in its standard anatomical position. This position provides a definition of what is at the front ("anterior"), behind ("posterior") and so on. As part of defining and describing terms, the body is described through the use of anatomical planes and anatomical axes. The meaning of terms that are used can change depending on whether an organism is bipedal or quadrupedal. Additionally, for some animals such as invertebrates, some terms may not have any meaning at all; for example, an animal that is radially symmetrical will have no anterior surface, but can still have a description that a part is close to the middle ("proximal") or further from the middle ("distal"). International organisations have determined vocabularies that are often used as standard vocabularies for subdisciplines of anatom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Face
The face is the front of an animal's head that features the eyes, nose and mouth, and through which animals express many of their emotions. The face is crucial for human identity, and damage such as scarring or developmental deformities may affect the psyche adversely. Structure The front of the human head is called the face. It includes several distinct areas, of which the main features are: *The forehead, comprising the skin beneath the hairline, bordered laterally by the temples and inferiorly by eyebrows and ears *The eyes, sitting in the orbit and protected by eyelids and eyelashes * The distinctive human nose shape, nostrils, and nasal septum *The cheeks, covering the maxilla and mandibula (or jaw), the extremity of which is the chin *The mouth, with the upper lip divided by the philtrum, sometimes revealing the teeth Facial appearance is vital for human recognition and communication. Facial muscles in humans allow expression of emotions. The face is itself a highly ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Generalized 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 lipodystophy 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 throu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
