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Keratolytic Winter Erythema
Keratolytic Winter erythema (also known as Oudtshoorn disease or Oudtshoorn skin) is a rare autosomal dominant skin disease of unknown cause which causes redness and peeling of the skin on the palms and soles. Onset, increased prominence and severity usually occurs during winter. It is a type of genodermatosis. The name "Oudtshoorn skin" derives from the town of Oudtshoorn in the Western Cape province of South Africa, where the disorder was first described. It is one of several genetic disorders known to be highly prevalent among the Afrikaner population. Presentation KWE is characterized by a number of anomalies affecting the skin. Erythema causes redness of the skin, which is generally associated with inflammation and irritation. Including erythema and hyperkeratosis (thickening of the stratum corneum), naturally occurring keratolytic peeling and scaling, with increased manifestation in winter, are prevailing features of the disorder. Erythema in KWE has been attributed to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heredity
Heredity, also called inheritance or biological inheritance, is the passing on of traits from parents to their offspring; either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents. Through heredity, variations between individuals can accumulate and cause species to evolve by natural selection. The study of heredity in biology is genetics. Overview In humans, eye color is an example of an inherited characteristic: an individual might inherit the "brown-eye trait" from one of the parents. Inherited traits are controlled by genes and the complete set of genes within an organism's genome is called its genotype. The complete set of observable traits of the structure and behavior of an organism is called its phenotype. These traits arise from the interaction of its genotype with the environment. As a result, many aspects of an organism's phenotype are not inherited. For example, suntanned skin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Stratum Corneum
The stratum corneum (Latin for 'horny layer') is the outermost layer of the epidermis. The human stratum corneum comprises several levels of flattened corneocytes that are divided into two layers: the ''stratum disjunctum'' and ''stratum compactum''. The skin's protective acid mantle and lipid barrier sit on top of the stratum disjunctum. The stratum disjunctum is the uppermost and loosest layer of skin. The stratum compactum is the comparatively deeper, more compacted and more cohesive part of the stratum corneum. The corneocytes of the stratum disjunctum are larger, more rigid and more hydrophobic than that of the stratum compactum. The stratum corneum is the dead tissue that performs protective and adaptive physiological functions including mechanical shear, impact resistance, water flux and hydration regulation, microbial proliferation and invasion regulation, initiation of inflammation through cytokine activation and dendritic cell activity, and selective permeability to exc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Allele
An allele (, ; ; modern formation from Greek ἄλλος ''állos'', "other") is a variation of the same sequence of nucleotides at the same place on a long DNA molecule, as described in leading textbooks on genetics and evolution. ::"The chromosomal or genomic location of a gene or any other genetic element is called a locus (plural: loci) and alternative DNA sequences at a locus are called alleles." The simplest alleles are single nucleotide polymorphisms (SNP). but they can also be insertions and deletions of up to several thousand base pairs. Popular definitions of 'allele' typically refer only to different alleles within genes. For example, the ABO blood grouping is controlled by the ABO gene, which has six common alleles (variants). In population genetics, nearly every living human's phenotype for the ABO gene is some combination of just these six alleles. Most alleles observed result in little or no change in the function of the gene product it codes for. However, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Loss Of Heterozygosity
Loss of heterozygosity (LOH) is a type of genetic abnormality in diploid organisms in which one copy of an entire gene and its surrounding chromosomal region are lost. Since diploid cells have two copies of their genes, one from each parent, a single copy of the lost gene still remains. But any heterozygosity, slight differences between the versions of the gene inherited from each parent, is no longer present. In cancer The loss of heterozygosity is a common occurrence in cancer development. Originally, a heterozygous state is required and indicates the absence of a functional tumor suppressor gene copy in the region of interest. However, many people remain healthy with such a loss, because there still is one functional gene left on the other chromosome of the chromosome pair. The remaining copy of the tumor suppressor gene can be inactivated by a point mutation or via other mechanisms, resulting in a loss of heterozygosity event, and leaving no tumor suppressor gene to protect the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Candidate Gene
The candidate gene approach to conducting genetic association studies focuses on associations between genetic variation within pre-specified genes of interest, and phenotypes or disease states. This is in contrast to genome-wide association studies (GWAS), which is a hypothesis-free approach that scans the entire genome for associations between common genetic variants (typically SNPs) and traits of interest. Candidate genes are most often selected for study based on ''a priori'' knowledge of the gene's biological functional impact on the trait or disease in question. The rationale behind focusing on allelic variation in specific, biologically relevant regions of the genome is that certain alleles within a gene may directly impact the function of the gene in question and lead to variation in the phenotype or disease state being investigated. This approach often uses the case-control study design to try to answer the question, "Is one allele of a candidate gene more frequently seen in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 8 (human)
Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 145 million base pairs (the building material of DNA) and represents between 4.5 and 5.0% of the total DNA in cells. About 8% of its genes are involved in brain development and function, and about 16% are involved in cancer. A unique feature of 8p is a region of about 15 megabases that appears to have a high mutation rate. This region shows a significant divergence between human and chimpanzee, suggesting that its high mutation rates have contributed to the evolution of the human brain. __TOC__ Genes Number of genes The following are some of the gene count estimates of human chromosome 8. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lesion
A lesion is any damage or abnormal change in the tissue of an organism, usually caused by disease or trauma. ''Lesion'' is derived from the Latin "injury". Lesions may occur in plants as well as animals. Types There is no designated classification or naming convention for lesions. Since lesions can occur anywhere in the body and the definition of a lesion is so broad, the varieties of lesions are virtually endless. Generally, lesions may be classified by their patterns, their sizes, their locations, or their causes. They can also be named after the person who discovered them. For example, Ghon lesions, which are found in the lungs of those with tuberculosis, are named after the lesion's discoverer, Anton Ghon. The characteristic skin lesions of a varicella zoster virus infection are called '' chickenpox''. Lesions of the teeth are usually called dental caries. Location Lesions are often classified by their tissue types or locations. For example, a "skin lesion" or a " bra ... [...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] |
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] |
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] |
Dissection
Dissection (from Latin ' "to cut to pieces"; also called anatomization) is the dismembering of the body of a deceased animal or plant to study its anatomical structure. Autopsy is used in pathology and forensic medicine to determine the cause of death in humans. Less extensive dissection of plants and smaller animals preserved in a formaldehyde solution is typically carried out or demonstrated in biology and natural science classes in middle school and high school, while extensive dissections of cadavers of adults and children, both fresh and preserved are carried out by medical students in medical schools as a part of the teaching in subjects such as anatomy, pathology and forensic medicine. Consequently, dissection is typically conducted in a morgue or in an anatomy lab. Dissection has been used for centuries to explore anatomy. Objections to the use of cadavers have led to the use of alternatives including virtual dissection of computer models. Overview Plant and animal b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epidermis (skin)
The epidermis is the outermost of the three layers that comprise the skin, the inner layers being the dermis and hypodermis. The epidermis layer provides a barrier to infection from environmental pathogens and regulates the amount of water released from the body into the atmosphere through transepidermal water loss. The epidermis is composed of multiple layers of flattened cells that overlie a base layer (stratum basale) composed of columnar cells arranged perpendicularly. The layers of cells develop from stem cells in the basal layer. The human epidermis is a familiar example of epithelium, particularly a stratified squamous epithelium. The word epidermis is derived through Latin , itself and . Something related to or part of the epidermis is termed epidermal. Structure Cellular components The epidermis primarily consists of keratinocytes ( proliferating basal and differentiated suprabasal), which comprise 90% of its cells, but also contains melanocytes, Langerhans c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
