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Refsum Disease
Refsum disease is an autosomal recessive neurological disease that results in the over-accumulation of phytanic acid in cells and tissues. It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907–1991). Refsum disease typically is adolescent onset and is diagnosed by above average levels of phytanic acid. Humans obtain the necessary phytanic acid primarily through diet. It is still unclear what function phytanic acid plays physiologically in humans, but has been found to regulate fatty acid metabolism in the liver of mice. Presentation Individuals with Refsum disease present with neurologic damage, cerebellar degeneration, and peripheral neuropathy. Onset is most commonly in childhood/adolescence with a progressive course, although periods of stagnation or remission occur. Symptoms also include ataxia, scaly skin (ichthyosis), difficulty hearing, and eye problems including retinitis pigmentosa, cataracts, and night blindness. In 80% of patie ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phytanic Acid
Phytanic acid (or 3,7,11,15-tetramethyl hexadecanoic acid) is a branched chain fatty acid that humans can obtain through the consumption of dairy products, ruminant animal fats, and certain fish. Western diets are estimated to provide 50–100 mg of phytanic acid per day. In a study conducted in Oxford, individuals who consumed meat had, on average, a 6.7-fold higher geometric mean plasma phytanic acid concentration than did vegans. Human pathology Unlike most fatty acids, phytanic acid cannot be metabolized by β-oxidation. Instead, it undergoes α-oxidation in the peroxisome, where it is converted into pristanic acid by the removal of one carbon. Pristanic acid can undergo several rounds of β-oxidation in the peroxisome to form medium chain fatty acids that can be converted to carbon dioxide and water in mitochondria. Individuals with adult Refsum disease, an autosomal recessive neurological disorder caused by mutations in the ''PHYH'' gene, have impaired α-oxidation ac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
In Vivo
Studies that are ''in vivo'' (Latin for "within the living"; often not italicized in English) are those in which the effects of various biological entities are tested on whole, living organisms or cells, usually animals, including humans, and plants, as opposed to a tissue extract or dead organism. This is not to be confused with experiments done ''in vitro'' ("within the glass"), i.e., in a laboratory environment using test tubes, Petri dishes, etc. Examples of investigations ''in vivo'' include: the pathogenesis of disease by comparing the effects of bacterial infection with the effects of purified bacterial toxins; the development of non-antibiotics, antiviral drugs, and new drugs generally; and new surgical procedures. Consequently, animal testing and clinical trials are major elements of ''in vivo'' research. ''In vivo'' testing is often employed over ''in vitro'' because it is better suited for observing the overall effects of an experiment on a living subject. In ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive Disorders
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations of XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other Salome combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chromosom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Peroxisomal Disorders
Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. This may be due to defects in single enzymes important for peroxisome function or in peroxins, proteins encoded by ''PEX'' genes that are critical for normal peroxisome assembly and biogenesis. Peroxisome biogenesis disorders Peroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1 (RCDP1). PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy. PBD-ZSD is most commonly caused by mutations in the ''PEX1'', ''PEX6'', ''PEX10'', ''PEX12'', and ''PEX26'' genes. This results in the over-accumulation of very long chain fat ... [...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 meso ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
The Myelin Project
The Myelin Project is 501(c)(3) nonprofit organization established in 1989 by Augusto Odone and his wife, Michaela. Their son, Lorenzo, suffered from adrenoleukodystrophy (ALD), the most common of the leukodystrophies. The story of the Odones' struggle was dramatized in the 1992 film ''Lorenzo's Oil''. The Myelin Project has three branches in the United States, Germany, and the United Kingdom. The Myelin Project's scientific advisory committee includes researchers from Yale University and the University of Wisconsin–Madison in the United States, the Istituto Superiore di Sanità and San Raffaele Hospital in Italy, the Hôpital de la Salpêtrière and the Institute Pasteur in France, Queen's University at Kingston in Canada, the University of Cambridge and University of Edinburgh in the United Kingdom, and the Max-Planck-Institut in Germany. The project's aims The Myelin Project aims to advance research, advocacy, and family support for ALD and adrenomyeloneuropathy (AMN). ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hindgut Fermentation
Hindgut fermentation is a digestive process seen in monogastric herbivores, animals with a simple, single-chambered stomach. Cellulose is digested with the aid of symbiotic bacteria.Animal Structure & Function . Sci.waikato.ac.nz. Retrieved on 2011-11-27. The microbial fermentation occurs in the digestive organs that follow the small intestine: the and |
Orangutan
Orangutans are great apes native to the rainforests of Indonesia and Malaysia. They are now found only in parts of Borneo and Sumatra, but during the Pleistocene they ranged throughout Southeast Asia and South China. Classified in the genus ''Pongo'', orangutans were originally considered to be one species. From 1996, they were divided into two species: the Bornean orangutan (''P. pygmaeus'', with three subspecies) and the Sumatran orangutan (''P. abelii''). A third species, the Tapanuli orangutan (''P. tapanuliensis''), was identified definitively in 2017. The orangutans are the only surviving species of the subfamily Ponginae, which diverged genetically from the other hominids (gorillas, chimpanzees, and humans) between 19.3 and 15.7 million years ago. The most arboreal of the great apes, orangutans spend most of their time in trees. They have proportionally long arms and short legs, and have reddish-brown hair covering their bodies. Adult males weigh about , while f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gorilla
Gorillas are herbivorous, predominantly ground-dwelling great apes that inhabit the tropical forests of equatorial Africa. The genus ''Gorilla'' is divided into two species: the eastern gorilla and the western gorilla, and either four or five subspecies. The DNA of gorillas is highly similar to Human evolutionary genetics, that of humans, from 95 to 99% depending on what is included, and they are the next closest living relatives to humans after chimpanzees and bonobos. Gorillas are the largest Neontology#Extant taxa versus extinct taxa, living primates, reaching heights between 1.25 and 1.8 metres, weights between 100 and 270 kg, and arm spans up to 2.6 metres, depending on species and sex. They tend to live in troops, with the leader being called a silverback. The Eastern gorilla is distinguished from the Western by darker fur colour and some other minor morphological differences. Gorillas tend to live 35–40 years in the wild. The Oldest hominids, oldest gorilla kno ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chimpanzee
The chimpanzee (''Pan troglodytes''), also known as simply the chimp, is a species of great ape native to the forest and savannah of tropical Africa. It has four confirmed subspecies and a fifth proposed subspecies. When its close relative the bonobo was more commonly known as the pygmy chimpanzee, this species was often called the common chimpanzee or the robust chimpanzee. The chimpanzee and the bonobo are the only species in the genus ''Pan''. Evidence from fossils and DNA sequencing shows that ''Pan'' is a sister taxon to the human lineage and is humans' closest living relative. The chimpanzee is covered in coarse black hair, but has a bare face, fingers, toes, palms of the hands, and soles of the feet. It is larger and more robust than the bonobo, weighing for males and for females and standing . The chimpanzee lives in groups that range in size from 15 to 150 members, although individuals travel and forage in much smaller groups during the day. The species lives in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Great Ape
The Hominidae (), whose members are known as the great apes or hominids (), are a taxonomic family of primates that includes eight extant species in four genera: '' Pongo'' (the Bornean, Sumatran and Tapanuli orangutan); ''Gorilla'' (the eastern and western gorilla); '' Pan'' (the chimpanzee and the bonobo); and ''Homo'', of which only modern humans remain. Several revisions in classifying the great apes have caused the use of the term ''"hominid"'' to vary over time. The original meaning of "hominid" referred only to humans (''Homo'') and their closest extinct relatives. However, by the 1990s humans, apes, and their ancestors were considered to be "hominids". The earlier restrictive meaning has now been largely assumed by the term ''" hominin"'', which comprises all members of the human clade after the split from the chimpanzees (''Pan''). The current meaning of "hominid" includes all the great apes including humans. Usage still varies, however, and some scientists an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human
Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture, and language. Humans are highly social and tend to live in complex social structures composed of many cooperating and competing groups, from families and kinship networks to political states. Social interactions between humans have established a wide variety of values, social norms, and rituals, which bolster human society. Its intelligence and its desire to understand and influence the environment and to explain and manipulate phenomena have motivated humanity's development of science, philosophy, mythology, religion, and other fields of study. Although some scientists equate the term ''humans'' with all members of the genus '' Homo'', in common usage, it generally refers to ''Homo sapiens'', the only extant member. Anato ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
