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MDP Syndrome
MDP syndrome, also known as mandibular dysplasia with deafness and progeroid features, is an extremely rare metabolic disorder that prevents fatty tissue from being stored underneath the skin. It is only known to affect a very small number of people worldwide (less than 12 cases have been diagnosed as of December 2014). Recent research has suggested that it may be caused by an abnormality of the POLD1 gene on chromosome 19, which causes an enzyme crucial to DNA replication to be defective. Presentation * mandibular hypoplasia (a small lower jaw), * deafness, * tightening of the skin, * lipodystrophy (a reduction in fat under the skin), * low testosterone levels in males, * contractures of the long tendons of the toes resulting in claw toes and joint stiffness. Genetics Initially all people that have been identified with this syndrome have an identical genetic change, an inframe single codon deletion in POLD1 resulting in a loss of serine at position 605. The POLD1 gene is expresse ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mandibular
In anatomy, the mandible, lower jaw or jawbone is the largest, strongest and lowest bone in the human facial skeleton. It forms the lower jaw and holds the lower teeth in place. The mandible sits beneath the maxilla. It is the only movable bone of the skull (discounting the ossicles of the middle ear). It is connected to the temporal bones by the temporomandibular joints. The bone is formed in the fetus from a fusion of the left and right mandibular prominences, and the point where these sides join, the mandibular symphysis, is still visible as a faint ridge in the midline. Like other symphyses in the body, this is a midline articulation where the bones are joined by fibrocartilage, but this articulation fuses together in early childhood.Illustrated Anatomy of the Head and Neck, Fehrenbach and Herring, Elsevier, 2012, p. 59 The word "mandible" derives from the Latin word ''mandibula'', "jawbone" (literally "one used for chewing"), from '' mandere'' "to chew" and ''-bula'' (ins ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypogonadism
Hypogonadism means diminished functional activity of the gonads—the testes or the ovaries—that may result in diminished production of sex hormones. Low androgen (e.g., testosterone) levels are referred to as hypoandrogenism and low estrogen (e.g., estradiol) as hypoestrogenism. These are responsible for the observed signs and symptoms in both males and females. Hypogonadism, commonly referred to by the symptom "low testosterone" or "Low T", can also decrease other hormones secreted by the gonads including progesterone, DHEA, anti-Müllerian hormone, activin, and inhibin. Sperm development (spermatogenesis) and release of the egg from the ovaries (ovulation) may be impaired by hypogonadism, which, depending on the degree of severity, may result in partial or complete infertility. In January 2020, the American College of Physicians issued clinical guidelines for testosterone treatment in adult men with age-related low levels of testosterone. The guidelines are supported b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Diseases And Disorders
Genetic may refer to: *Genetics, in biology, the science of genes, heredity, and the variation of organisms **Genetic, used as an adjective, refers to genes ***Genetic disorder, any disorder caused by a genetic mutation, whether inherited or de novo ***Genetic mutation, a change in a gene ****Heredity, genes and their mutations being passed from parents to offspring **Genetic recombination, refers to the recombining of alleles resulting in a new molecule of DNA *Genetic relationship (linguistics), in linguistics, a relationship between two languages with a common ancestor language *Genetic algorithm In computer science and operations research, a genetic algorithm (GA) is a metaheuristic inspired by the process of natural selection that belongs to the larger class of evolutionary algorithms (EA). Genetic algorithms are commonly used to gene ..., in computer science, a kind of search technique modeled on evolutionary biology See also * Genetic memory (other) {{disam ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorders
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be vi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Metabolic Disorders
A metabolic disorder is a disorder that negatively alters the body's processing and distribution of macronutrients, such as Protein, proteins, Fat, fats, and Carbohydrate, carbohydrates. Metabolic disorders can happen when abnormal chemical reactions in the body alter the normal metabolic process. It can also be defined as inherited single gene anomaly, most of which are Dominance (genetics), autosomal recessive. Signs and symptoms Some of the symptoms that can occur with metabolic disorders are lethargy, weight loss, jaundice and seizures. The symptoms expressed would vary with the type of metabolic disorder. There are four categories of symptoms: acute symptoms, late-onset acute symptoms, progressive general symptoms and permanent symptoms. Causes Inherited metabolic disorders are one cause of metabolic disorders, and occur when a defective gene causes an enzyme deficiency. These diseases, of which there are many subtypes, are known as inborn errors of metabolism. Metabolic d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tom Staniford
Tom Staniford (born 1 July 1989) is an English para-cyclist from Exeter. He was the 2011 National Para-Cycling Circuit Race Champion. British Cycling Report Paul West,2011 National Paracycling Circuit Race Championship, 26 June 2011. He is provisionally classified by the UCI as a C3 para-cyclist due to connective tissue disorders affecting his feet and hands, almost-total fixation of his ankles, poor flexibility in all his limbs, low testosterone, [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Royal Devon And Exeter Hospital
The Royal Devon and Exeter Hospital (commonly referred to as RD&E), and with a main site sometimes known as Wonford Hospital, is a large teaching hospital situated in Exeter, Devon, England, and is run by the Royal Devon University Healthcare NHS Foundation Trust. The hospital has multiple sites, with the main site at Wonford in the former grounds of the Wonford House Hospital (run separately by the Devon Partnership NHS Trust). The hospital also operates the nearby Heavitree hospital site, which was formerly the Exeter City Hospital, as well as satellite sites including Whipton Hospital. The hospital is used for the clinical training of medical students from the University of Plymouth and the University of Exeter. History Southernhay In the mid-18th century, Alured Clarke, the newly appointed Dean of Exeter who had already helped with the establishment of a cottage hospital in Winchester (which has since become the Royal Hampshire County Hospital), proposed the idea of a new ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
University Of Exeter
The University of Exeter is a public university , public research university in Exeter, Devon, England, United Kingdom. Its predecessor institutions, St Luke's College, Exeter School of Science, Exeter School of Art, and the Camborne School of Mines were established in 1838, 1855, 1863, and 1888 respectively. These institutions later formed the University of Exeter after receiving its royal charter in 1955. In Post-nominal letters, post-nominals, the University of Exeter is abbreviated as ''Exon.'' (from the Latin ''Exoniensis''), and is the suffix given to Honorary Degree, honorary and academic degrees from the university. The university has four campuses: Streatham Campus, Streatham and St. Luke's Campus, St Luke's (both of which are in Exeter); and Truro and Penryn Campus, Penryn (both of which are in Cornwall). The university is primarily located in the city of Exeter, Devon, where it is the principal higher education institution. Streatham is the largest campus containing many ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Progeria
Progeria is a specific type of progeroid syndrome, also known as Hutchinson–Gilford syndrome. A single gene mutation is responsible for progeria. The gene, known as lamin A (LMNA), makes a protein necessary for holding the Nucleus of the cell together. When this gene gets mutated an abnormal form of lamin A protein called Progerin is produced. Progeroid syndromes are a group of diseases that causes individuals to age faster than usual, leading to them appearing older than they actually are. Patients born with progeria typically live to an age of mid-teens to early twenties. Severe cardiovascular complications usually develop by puberty, resulting in death. Signs and symptoms Children with progeria usually develop the first symptoms during their first few months of life. The earliest symptoms may include a failure to thrive and a localized scleroderma-like skin condition. As a child ages past infancy, additional conditions become apparent, usually around 18–24 months. Limite ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Audiometry
Audiometry () is a branch of audiology and the science of measuring hearing acuity for variations in sound intensity and pitch and for tonal purity, involving thresholds and differing frequencies. Typically, audiometric tests determine a subject's hearing levels with the help of an audiometer, but may also measure ability to discriminate between different sound intensities, recognize pitch, or distinguish speech from background noise. Acoustic reflex and otoacoustic emissions may also be measured. Results of audiometric tests are used to diagnose hearing loss or diseases of the ear, and often make use of an audiogram. History The basic requirements of the field were to be able to produce a repeating sound, some way to attenuate the amplitude, a way to transmit the sound to the subject, and a means to record and interpret the subject's responses to the test. Mechanical "acuity meters" and tuning forks For many years there was desultory use of various devices capable of produc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Testosterone Replacement
Androgen replacement therapy (ART), often referred to as testosterone replacement therapy (TRT) or hormone replacement therapy (HRT), is a form of hormone therapy in which androgens, often testosterone, are supplemented or replaced exogenously. ART is often prescribed to counter the effects of male hypogonadism. It typically involves the administration of testosterone through injections, skin creams, patches, gels, pills, or subcutaneous pellets. ART is also prescribed to lessen the effects or delay the onset of normal male aging. However, this is controversial and is the subject of ongoing clinical trials. As men enter middle age they may notice changes caused by a relative decline in testosterone: fewer erections, fatigue, thinning skin, declining muscle mass and strength, and/or more body fat. Dissatisfaction with these changes causes some middle age men to seek ART. Androgen deficiencies in women have also, as of 2001, been recognized as a medical disorder that can be treat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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