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X-linked Spinal And Bulbar Muscular Atrophy
Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a debilitating neurodegenerative disorder resulting in muscle cramps and progressive weakness due to degeneration of motor neurons in the brainstem and spinal cord and muscle wasting. The condition is associated with mutation of the androgen receptor (''AR'') gene and is inherited in an X-linked recessive manner. As with many genetic disorders, no cure is known, although research continues. Because of its endocrine manifestations related to the impairment of the ''AR'' gene, patients with SBMA develop partial symptoms of androgen insensitivity syndrome (AIS) in addition to neuromuscular degeneration. SBMA is related to other neurodegenerative diseases caused by similar mutations, such as Huntington's disease. The prevalence of SBMA has been estimated at 2.6:100,000 males. Signs and symptoms Individuals with SBMA have muscle cramps and progressive weakness due to degeneration of motor neurons in t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Androgen Receptor
The androgen receptor (AR), also known as NR3C4 (nuclear receptor subfamily 3, group C, member 4), is a type of nuclear receptor that is activated by binding any of the androgenic hormones, including testosterone and dihydrotestosterone in the cytoplasm and then translocating into the nucleus. The androgen receptor is most closely related to the progesterone receptor, and progestins in higher dosages can block the androgen receptor. The main function of the androgen receptor is as a DNA-binding transcription factor that regulates gene expression; however, the androgen receptor has other functions as well. Androgen-regulated genes are critical for the development and maintenance of the male sexual phenotype. Function Effect on development In some cell types, testosterone interacts directly with androgen receptors, whereas, in others, testosterone is converted by 5-alpha-reductase to dihydrotestosterone, an even more potent agonist for androgen receptor activation. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Chromosome X - 550 Bphs
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. Anatomically modern huma ... [...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 sk ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X Chromosomes
The X chromosome is one of the two sex-determining chromosomes ( allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females. It is a part of the XY sex-determination system and XO sex-determination system. The X chromosome was named for its unique properties by early researchers, which resulted in the naming of its counterpart Y chromosome, for the next letter in the alphabet, following its subsequent discovery. Discovery It was first noted that the X chromosome was special in 1890 by Hermann Henking in Leipzig. Henking was studying the testicles of ''Pyrrhocoris'' and noticed that one chromosome did not take part in meiosis. Chromosomes are so named because of their ability to take up staining (''chroma'' in Greek means ''color''). Although the X chromosome could be stained just as well as the others, Henking was unsure whether it was a different class of object and consequently named it ''X element'', which later be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Homozygous
Zygosity (the noun, zygote, is from the Greek "yoked," from "yoke") () is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism. Most eukaryotes have two matching sets of chromosomes; that is, they are diploid. Diploid organisms have the same loci on each of their two sets of homologous chromosomes except that the sequences at these loci may differ between the two chromosomes in a matching pair and that a few chromosomes may be mismatched as part of a chromosomal sex-determination system. If both alleles of a diploid organism are the same, the organism is homozygous at that locus. If they are different, the organism is heterozygous at that locus. If one allele is missing, it is hemizygous, and, if both alleles are missing, it is nullizygous. The DNA sequence of a gene often varies from one individual to another. These gene variants are called alleles. While some ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Testicular
A testicle or testis (plural testes) is the male reproductive gland or gonad in all bilaterians, including humans. It is homologous to the female ovary. The functions of the testes are to produce both sperm and androgens, primarily testosterone. Testosterone release is controlled by the anterior pituitary luteinizing hormone, whereas sperm production is controlled both by the anterior pituitary follicle-stimulating hormone and gonadal testosterone. Structure Appearance Males have two testicles of similar size contained within the scrotum, which is an extension of the abdominal wall. Scrotal asymmetry, in which one testicle extends farther down into the scrotum than the other, is common. This is because of the differences in the vasculature's anatomy. For 85% of men, the right testis hangs lower than the left one. Measurement and volume The volume of the testicle can be estimated by palpating it and comparing it to ellipsoids of known sizes. Another method is to use calip ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fertility
Fertility is the capability to produce offspring through reproduction following the onset of sexual maturity. The fertility rate is the average number of children born by a female during her lifetime and is quantified demographically. Fertility is addressed when there is a difficulty or an inability to reproduce naturally, which is referred to as infertility. Infertility is widespread, with fertility specialists available all over the world to assist mothers and couples who experience difficulties having a baby. Human fertility depends on factors of nutrition, sexual behaviour, consanguinity, culture, instinct, endocrinology, timing, economics, personality, way of life, and emotions. Fertility differs from fecundity, which is defined as the ''potential'' for reproduction (influenced by gamete production, fertilization and carrying a pregnancy to term). Where a woman or the lack of fertility is infertility while a lack of fecundity would be called sterility. Demograph ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Erectile Dysfunction
Erectile dysfunction (ED), also called impotence, is the type of sexual dysfunction in which the penis fails to become or stay erect during sexual activity. It is the most common sexual problem in men.Cunningham GR, Rosen RC. Overview of male sexual dysfunction. In: UpToDate, Martin KA (Ed), UpToDate, Waltham, MA, 2018. Through its connection to self-image and to problems in sexual relationships, erectile dysfunction can cause psychological harm. In about 80% of cases, physical causes can be identified. These include cardiovascular disease; diabetes mellitus; neurological problems, such as those following prostatectomy; hypogonadism; and drug side effects. About 10% of cases are psychological impotence, caused by thoughts or feelings; here, there is a strong response to placebo treatment. The term ''erectile dysfunction'' is not used for other disorders of erection, such as priapism. Treatment involves addressing the underlying causes, lifestyle modifications, and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gynecomastia
Gynecomastia (also spelled gynaecomastia) is the abnormal non-cancerous enlargement of one or both breasts in males due to the growth of breast tissue as a result of a hormone imbalance between estrogens and androgens. Updated by Brent Wisse (10 November 2018) Gynecomastia can cause significant psychological distress or unease. Gynecomastia can be normal in newborn babies due to exposure to estrogen from the mother, in adolescents going through puberty, in older men over age 50, and/or in obese men. Most occurrences of gynecomastia do not require diagnostic tests. Gynecomastia may be caused by abnormal hormone changes, any condition that leads to an increase in the ratio of estrogens/androgens such as liver disease, kidney failure, thyroid disease and some non-breast tumors. Alcohol and some drugs can also cause breast enlargement. Other causes may include Klinefelter syndrome, metabolic dysfunction, or a natural decline in testosterone production. This may occur even i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cramps
A cramp is a sudden, involuntary, painful skeletal muscle contraction or overshortening associated with electrical activity; while generally temporary and non-damaging, they can cause significant pain and a paralysis-like immobility of the affected muscle. A cramp usually goes away on its own over a period of several seconds, or minutes. Cramps are common and tend to occur at rest, usually at night (nocturnal leg cramps). They are also often associated with pregnancy, physical exercise or overexertion, age (common in older adults), in such cases, cramps are called idiopathic, because there is no underlying pathology. In addition to those benign conditions cramps are also associated with many pathologic conditions. Skeletal muscle cramps may be caused by muscle fatigue or a lack of electrolytes such as sodium (a condition called hyponatremia), potassium (called hypokalemia), or magnesium (called hypomagnesemia). Some skeletal muscle cramps do not have a known cause. Motor ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tendon
A tendon or sinew is a tough, high-tensile-strength band of dense fibrous connective tissue that connects muscle to bone. It is able to transmit the mechanical forces of muscle contraction to the skeletal system without sacrificing its ability to withstand significant amounts of tension. Tendons are similar to ligaments; both are made of collagen. Ligaments connect one bone to another, while tendons connect muscle to bone. Structure Histologically, tendons consist of dense regular connective tissue. The main cellular component of tendons are specialized fibroblasts called tendon cells (tenocytes). Tenocytes synthesize the extracellular matrix of tendons, abundant in densely packed collagen fibers. The collagen fibers are parallel to each other and organized into tendon fascicles. Individual fascicles are bound by the endotendineum, which is a delicate loose connective tissue containing thin collagen fibrils and elastic fibres. Groups of fascicles are bounded by the epit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tremor
A tremor is an involuntary, somewhat rhythmic, muscle contraction and relaxation involving oscillations or twitching movements of one or more body parts. It is the most common of all involuntary movements and can affect the hands, arms, eyes, face, head, vocal folds, trunk, and legs. Most tremors occur in the hands. In some people, a tremor is a symptom of another neurological disorder. A very common tremor is the teeth chattering, usually induced by cold temperatures or by fear. Types Tremor is most commonly classified by clinical features and cause or origin. Some of the better-known forms of tremor, with their symptoms, include the following: * Cerebellar tremor (also known as intention tremor) is a slow, broad tremor of the extremities that occurs at the end of a purposeful movement, such as trying to press a button or touching a finger to the tip of one's nose. Cerebellar tremor is caused by lesions in or damage to the cerebellum resulting from stroke, tumor, or disease s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
