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Hyperphagia
Polyphagia, or hyperphagia, is an abnormally strong, incessant sensation of hunger or desire to eat often leading to overeating. In contrast to an increase in appetite following exercise, polyphagia does not subside after eating and often leads to rapid intake of excessive quantities of food. Polyphagia is not a disorder by itself; rather, it is a symptom indicating an underlying medical condition. It is frequently a result of abnormal blood glucose levels (both hyperglycemia and hypoglycemia), and, along with polydipsia and polyuria, it is one of the "3 Ps" commonly associated with uncontrolled diabetes mellitus. Etymology The word ''polyphagia'' () uses combining forms of '' poly-'' + '' -phagia'', from the Greek words πολύς (polys), "very much" or "many", and φᾰ́γω (phago), "eating" or "devouring". Underlying conditions and possible causes Polyphagia is one of the most common symptoms of diabetes mellitus. It is associated with hyperthyroidism and endocrine di ...
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Prader–Willi Syndrome
Prader–Willi syndrome (PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15. In newborns, symptoms include hypotonia, weak muscles, poor feeding, and slow development. Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 diabetes. Mild to moderate intellectual impairment and Behavioural problems, behavioral problems are also typical of the disorder. Often, affected individuals have a narrow forehead, small hands and feet, short height, and light skin and hair. Most are Infertility, unable to have children. About 74% of cases occur when part of the father's chromosome 15 is deleted. In another 25% of cases, the affected person has Uniparental disomy, two copies of the maternal chromosome 15 from the mother and lacks the paternal copy. As parts of the chromosome from the mother are turned off through Genomic imprinting, imprinting, they end up with no working copies of certain genes. ...
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Kleine–Levin Syndrome
Kleine–Levin syndrome (KLS) is a rare neurological disorder characterized by persistent episodic hypersomnia accompanied by cognitive and behavioral changes. These changes may include disinhibition (failure to inhibit actions or words), sometimes manifested through hypersexuality, hyperphagia or emotional lability, and other symptoms, such as derealization. Patients generally experience recurrent episodes of the condition for more than a decade, which may return at a later age. Individual episodes generally last more than a week, sometimes lasting for months. The condition greatly affects the personal, professional, and social lives of those with KLS. The severity of symptoms and the course of the syndrome vary between those with KLS. Patients commonly have about 20 episodes over about a decade. Several months may elapse between episodes. The onset of the condition usually follows a viral infection (72% of patients); several different viruses have been observed to trigger KLS. ...
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Vagus Nerve
The vagus nerve, also known as the tenth cranial nerve (CN X), plays a crucial role in the autonomic nervous system, which is responsible for regulating involuntary functions within the human body. This nerve carries both sensory and motor fibers and serves as a major pathway that connects the brain to various organs, including the heart, lungs, and digestive tract. As a key part of the parasympathetic nervous system, the vagus nerve helps regulate essential involuntary functions like heart rate, breathing, and digestion. By controlling these processes, the vagus nerve contributes to the body's "rest and digest" response, helping to calm the body after stress, lower heart rate, improve digestion, and maintain homeostasis. The vagus nerve consists of two branches: the right and left vagus nerves. In the neck, the right vagus nerve contains approximately 105,000 fibers, while the left vagus nerve has about 87,000 fibers, according to one source. However, other sources report sl ...
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Leptin
Leptin (from Ancient Greek, Greek λεπτός ''leptos'', "thin" or "light" or "small"), also known as obese protein, is a protein hormone predominantly made by adipocytes (cells of adipose tissue). Its primary role is likely to regulate long-term Energy homeostasis, energy balance. As one of the major signals of energy status, leptin levels influence appetite, Hunger (physiology), satiety, and motivated behaviors oriented toward the maintenance of energy reserves (e.g., feeding, foraging behaviors). The amount of circulating leptin correlates with the amount of energy reserves, mainly Triglyceride, triglycerides stored in adipose tissue. High leptin levels are interpreted by the brain that energy reserves are high, whereas low leptin levels indicate that energy reserves are low, in the process adapting the organism to Starvation response, starvation through a variety of metabolic, endocrine, neurobiochemical, and behavioral changes. Leptin is coded for by the ''LEP'' gene ...
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Menstrual Cycle
The menstrual cycle is a series of natural changes in hormone production and the structures of the uterus and ovaries of the female reproductive system that makes pregnancy possible. The ovarian cycle controls the production and release of eggs and the cyclic release of estrogen and progesterone. The uterine cycle governs the preparation and maintenance of the lining of the uterus (womb) to receive an embryo. These cycles are concurrent and coordinated, normally last between 21 and 35 days, with a median length of 28 days. Menarche (the onset of the first period) usually occurs around the age of 12 years; menstrual cycles continue for about 30–45 years. Naturally occurring hormones drive the cycles; the cyclical rise and fall of the follicle stimulating hormone prompts the production and growth of oocytes (immature egg cells). The hormone estrogen stimulates the uterus lining ( endometrium) to thicken to accommodate an embryo should fertilization occur. The blood suppl ...
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Cystinuria
Cystinuria is an inherited autosomal recessive disease characterized by high concentrations of the amino acid cystine in the urine, leading to the formation of cystine stones in the kidneys, ureters, and bladder. It is a type of aminoaciduria. "Cystine", not "cysteine," is implicated in this disease; the former is a dimer of the latter. Presentation Cystinuria is a cause of recurrent kidney stones. It is a disease involving the defective transepithelial transport of cystine and dibasic amino acids in the kidney and intestine and is one of many causes of kidney stones. If not treated properly, the disease could cause serious damage to the kidneys and surrounding organs, and in some rare cases death. The stones may be identified by a positive nitroprusside cyanide test. The crystals are usually hexagonal, translucent, and white. Upon removal, the stones may be pink or yellow, but later they turn greenish due to exposure to air. Cystinuria is usually asymptomatic when no stone ...
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Hypotonia
Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but it is a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Hypotonia is a lack of resistance to passive movement whereas muscle weakness results in impaired active movement. Central hypotonia originates from the central nervous system, while peripheral hypotonia is related to problems within the spinal cord, peripheral nerves, and/or skeletal muscles. Severe hypotonia in infancy is commonly known as floppy baby syndrome. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but medical diagnosis, diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the mus ...
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Ubiquitin
Ubiquitin is a small (8.6  kDa) regulatory protein found in most tissues of eukaryotic organisms, i.e., it is found ''ubiquitously''. It was discovered in 1975 by Gideon Goldstein and further characterized throughout the late 1970s and 1980s. Four genes in the human genome code for ubiquitin: UBB, UBC, UBA52 and RPS27A. The addition of ubiquitin to a substrate protein is called ubiquitylation (or ubiquitination or ubiquitinylation). Ubiquitylation affects proteins in many ways: it can mark them for degradation via the 26S proteasome, alter their cellular location, affect their activity, and promote or prevent protein interactions. Ubiquitylation involves three main steps: activation, conjugation, and ligation, performed by ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s), and ubiquitin ligases (E3s), respectively. The result of this sequential cascade is to bind ubiquitin to lysine residues on the protein substrate via an isopeptide bond, ...
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Frontotemporal Dementia
Frontotemporal dementia (FTD), also called frontotemporal degeneration disease or frontotemporal neurocognitive disorder, encompasses several types of dementia involving the progressive degeneration of the brain's frontal lobe, frontal and temporal lobes. Men and women appear to be equally affected. FTD generally presents as a behavioral or language disorder with gradual onset. Signs and symptoms tend to appear in late adulthood, typically between the ages of 45 and 65, although it can affect people younger or older than this. There is currently no cure or approved symptomatic treatment for FTD, although some Off-label use, off-label drugs and behavioral methods are prescribed. Features of FTD were first described by Arnold Pick between 1892 and 1906. The name ''Pick's disease'' was coined in 1922. This term is now reserved only for the behavioral variant of FTD, in which characteristic Pick bodies and Pick cells are present. These were first described by Alois Alzheimer in 1911. ...
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Renal Glycosuria
Renal glycosuria is a rare condition in which the simple sugar glucose is excreted in the urine despite normal or low blood glucose levels. With normal kidney (renal) function, glucose is excreted in the urine only when there are abnormally elevated levels of glucose in the blood. However, in those with renal glycosuria, glucose is abnormally elevated in the urine due to improper functioning of the renal tubules, which are primary components of nephrons, the filtering units of the kidneys. Signs and symptoms In most affected individuals, the condition causes no apparent symptoms (asymptomatic) or serious effects. When renal glycosuria occurs as an isolated finding with otherwise normal kidney function, the condition is thought to be inherited as an autosomal recessive trait. Causes Renal glycosuria can result from Fanconi syndrome (with impaired absorption of phosphate, amino acids) or familial renal glucosuria (presents as isolated glucosuria). Familial renal glycosuria (FRG ...
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Type 1 Diabetes
Type 1 diabetes (T1D), formerly known as juvenile diabetes, is an autoimmune disease that occurs when the body's immune system destroys pancreatic cells (beta cells). In healthy persons, beta cells produce insulin. Insulin is a hormone required by the body to store and convert blood sugar into energy. T1D results in high blood sugar levels in the body prior to treatment. Common symptoms include frequent urination, increased thirst, increased hunger, weight loss, and other complications. Additional symptoms may include blurry vision, tiredness, and slow wound healing (owing to impaired blood flow). While some cases take longer, symptoms usually appear within weeks or a few months. The cause of type 1 diabetes is not completely understood, but it is believed to involve a combination of genetic and environmental factors. The underlying mechanism involves an autoimmune destruction of the insulin-producing beta cells in the pancreas. Diabetes is diagnosed by testing the leve ...
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Lipodystrophy
Lipodystrophy syndromes are a group of genetic or acquired disorders in which the body is unable to produce and maintain healthy fat tissue. The medical condition is characterized by abnormal or degenerative conditions of the body's adipose tissue. A more specific term, ''lipoatrophy'' (), is used when describing the loss of fat from one area (usually the face). This condition is also characterized by a lack of circulating leptin which may lead to osteosclerosis. The absence of fat tissue is associated with insulin resistance, hypertriglyceridemia, non-alcoholic fatty liver disease (NAFLD) and metabolic syndrome. Types Lipodystrophy can be divided into the following types: * Congenital lipodystrophy syndromes ** Congenital generalized lipodystrophy (Berardinelli-Seip syndrome) ** Familial partial lipodystrophy ** Marfanoid–progeroid–lipodystrophy syndrome ** CANDLE syndrome, Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome * Acqui ...
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