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Lafora Disease
Lafora disease is a rare, adult-onset and autosomal recessive genetic disorder which results in Myoclonus#Epilepsy forms, myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of inclusion bodies, known as Lafora bodies, within the cytoplasm of the Cell (biology), cells in the heart, liver, muscle, and skin. Lafora disease is also a neurodegenerative disease that causes impairment in the development of brain (cerebral) cortical neurons and is a glycogen metabolism disorder. Lafora disease (LD) was described by the Spanish Neuropathologist Gonzalo Rodríguez Lafora (1886-1971) in 1911, while directing the Neuropathology Section at the Government Hospital for Mental Insane (current National Institutes of Health, NIH, USA) Lafora is a rare disease, meaning it is very rare in children, adolescents and adults worldwide. However, Lafora disease has a higher incidence among children and adolescents wi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Adolescence
Adolescence () is a transitional stage of physical and psychological development that generally occurs during the period from puberty to adulthood (typically corresponding to the age of majority). Adolescence is usually associated with the teenage years, but its physical, psychological or cultural expressions may begin earlier and end later. Puberty now typically begins during preadolescence, particularly in females. Physical growth (particularly in males) and cognitive development can extend past the teens. Age provides only a rough marker of adolescence, and scholars have not agreed upon a precise definition. Some definitions start as early as 10 and end as late as 25 or 26. The World Health Organization definition officially designates an adolescent as someone between the ages of 10 and 19. Biological development Puberty in general Puberty is a period of several years in which rapid physical growth and psychological changes occur, culminating in sexual maturity. The a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Liver
The liver is a major organ only found in vertebrates which performs many essential biological functions such as detoxification of the organism, and the synthesis of proteins and biochemicals necessary for digestion and growth. In humans, it is located in the right upper quadrant of the abdomen, below the diaphragm. Its other roles in metabolism include the regulation of glycogen storage, decomposition of red blood cells, and the production of hormones. The liver is an accessory digestive organ that produces bile, an alkaline fluid containing cholesterol and bile acids, which helps the breakdown of fat. The gallbladder, a small pouch that sits just under the liver, stores bile produced by the liver which is later moved to the small intestine to complete digestion. The liver's highly specialized tissue, consisting mostly of hepatocytes, regulates a wide variety of high-volume biochemical reactions, including the synthesis and breakdown of small and complex molecule ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Middle East
The Middle East ( ar, الشرق الأوسط, ISO 233: ) is a geopolitical region commonly encompassing Arabia (including the Arabian Peninsula and Bahrain), Asia Minor (Asian part of Turkey except Hatay Province), East Thrace (European part of Turkey), Egypt, Iran, the Levant (including Ash-Shām and Cyprus), Mesopotamia (modern-day Iraq), and the Socotra Archipelago (a part of Yemen). The term came into widespread usage as a replacement of the term Near East (as opposed to the Far East) beginning in the early 20th century. The term "Middle East" has led to some confusion over its changing definitions, and has been viewed by some to be discriminatory or too Eurocentric. The region includes the vast majority of the territories included in the closely associated definition of Western Asia (including Iran), but without the South Caucasus, and additionally includes all of Egypt (not just the Sinai Region) and all of Turkey (not just the part barring East Thrace). ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mediterranean People
The Mediterranean race (also Mediterranid race) was a historical race concept that was a sub-race of the Caucasian race as categorised by anthropologists in the late 19th to mid-20th centuries. According to various definitions, it was said to be prevalent in the Mediterranean Basin and areas near the Mediterranean, especially in Southern Europe, North Africa, most of Western Asia, the Middle East or Near East; western Central Asia, parts of South Asia, and parts of the Horn of Africa. To a lesser extent, certain populations of people in Ireland, western parts of Great Britain, and Southern Germany, despite living far from the Mediterranean, were thought to have some minority Mediterranean elements in their population, such as Bavaria, Wales, and Cornwall.The Races of Europe by Carlton Stevens Coon. From Chapter XI: The Mediterranean World – Introduction: "The next strip to follow, in a geographical sense, would be the whole highland belt of central Europe stretching over to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Consanguinity
Consanguinity ("blood relation", from Latin '' consanguinitas'') is the characteristic of having a kinship with another person (being descended from a common ancestor). Many jurisdictions have laws prohibiting people who are related by blood from marrying or having sexual relations with each other. The degree of consanguinity that gives rise to this prohibition varies from place to place. Such rules are also used to determine heirs of an estate according to statutes that govern intestate succession, which also vary from jurisdiction to jurisdiction. In some places and time periods, cousin marriage is allowed or even encouraged; in others, it is taboo, and considered to be incest. The degree of relative consanguinity can be illustrated with a ''consanguinity table'' in which each level of lineal consanguinity (''generation'' or '' meiosis'') appears as a row, and individuals with a collaterally consanguineous relationship share the same row. The Knot System is a numerical not ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Adult
An adult is a human or other animal that has reached full growth. In human context, the term ''adult'' has meanings associated with social and legal concepts. In contrast to a " minor", a legal adult is a person who has attained the age of majority and is therefore regarded as independent, self-sufficient, and responsible. They may also be regarded as a "major". The typical age of attaining legal adulthood is 18, although definition may vary by legal rights, country, and psychological development. Human adulthood encompasses psychological adult development. Definitions of adulthood are often inconsistent and contradictory; a person may be biologically an adult, and have adult behavior, but still be treated as a child if they are under the legal age of majority. Conversely, one may legally be an adult but possess none of the maturity and responsibility that may define an adult character. In different cultures there are events that relate passing from being a child to becom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Children
A child ( : children) is a human being between the stages of birth and puberty, or between the developmental period of infancy and puberty. The legal definition of ''child'' generally refers to a minor, otherwise known as a person younger than the age of majority. Children generally have fewer rights and responsibilities than adults. They are classed as unable to make serious decisions. ''Child'' may also describe a relationship with a parent (such as sons and daughters of any age) or, metaphorically, an authority figure, or signify group membership in a clan, tribe, or religion; it can also signify being strongly affected by a specific time, place, or circumstance, as in "a child of nature" or "a child of the Sixties." Biological, legal and social definitions In the biological sciences, a child is usually defined as a person between birth and puberty, or between the developmental period of infancy and puberty. Legally, the term ''child'' may refer to anyone below the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
National Institutes Of Health
The National Institutes of Health, commonly referred to as NIH (with each letter pronounced individually), is the primary agency of the United States government responsible for biomedical and public health research. It was founded in the late 1880s and is now part of the United States Department of Health and Human Services. The majority of NIH facilities are located in Bethesda, Maryland, and other nearby suburbs of the Washington metropolitan area, with other primary facilities in the Research Triangle Park in North Carolina and smaller satellite facilities located around the United States. The NIH conducts its own scientific research through the NIH Intramural Research Program (IRP) and provides major biomedical research funding to non-NIH research facilities through its Extramural Research Program. , the IRP had 1,200 principal investigators and more than 4,000 postdoctoral fellows in basic, translational, and clinical research, being the largest biomedical research ins ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gonzalo Rodríguez Lafora
Gonzalo Rodríguez Lafora (25 July 1886 – 27 December 1971) was a Spanish neurologist. He was a disciple of Nicolás Achúcarro and Santiago Ramón y Cajal and one of the most brilliant examples of the Spanish Neurological School (or Cajal School). He was best known now for describing (in 1911) the intracytoplasmic inclusion bodies in "Lafora disease". In total, he published approximately 200 papers covering a wide range of subjects in neurology, psychiatry, and neuropathology. He made seminal contributions not only to the clinical and scientific literature but also to the training of many noted disciples who paid him due homage as a true "maestro." Throughout his intellectual endeavors, Lafora manifested a singular purpose and intensity and a burning devotion to scientific honesty. In 1910, Fritz Heinrich Lewy discovered what became known as Lewy bodies, and compared them to earlier findings by Lafora. In 1913, Lafora described another case, and acknowledged Lewy as the disc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glycogen
Glycogen is a multibranched polysaccharide of glucose that serves as a form of energy storage in animals, fungi, and bacteria. The polysaccharide structure represents the main storage form of glucose in the body. Glycogen functions as one of two forms of energy reserves, glycogen being for short-term and the other form being triglyceride stores in adipose tissue (i.e., body fat) for long-term storage. In humans, glycogen is made and stored primarily in the cells of the liver and skeletal muscle. In the liver, glycogen can make up 5–6% of the organ's fresh weight, and the liver of an adult, weighing 1.5 kg, can store roughly 100–120 grams of glycogen. In skeletal muscle, glycogen is found in a low concentration (1–2% of the muscle mass) and the skeletal muscle of an adult weighing 70 kg stores roughly 400 grams of glycogen. The amount of glycogen stored in the body—particularly within the muscles and liver—mostly depends on physical training, bas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neuron
A neuron, neurone, or nerve cell is an electrically excitable cell that communicates with other cells via specialized connections called synapses. The neuron is the main component of nervous tissue in all animals except sponges and placozoa. Non-animals like plants and fungi do not have nerve cells. Neurons are typically classified into three types based on their function. Sensory neurons respond to stimuli such as touch, sound, or light that affect the cells of the sensory organs, and they send signals to the spinal cord or brain. Motor neurons receive signals from the brain and spinal cord to control everything from muscle contractions to glandular output. Interneurons connect neurons to other neurons within the same region of the brain or spinal cord. When multiple neurons are connected together, they form what is called a neural circuit. A typical neuron consists of a cell body ( soma), dendrites, and a single axon. The soma is a compact structure, and the axo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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