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Lipomatosis
Lipomatosis is believed to be an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders. In 1993, a genetic polymorphism within lipomas was localized to chromosome 12q15, where the HMGIC gene encodes the high-mobility-group protein isoform I-C. This is one of the most commonly found mutations in solitary lipomatous tumors but lipomas often have multiple mutations. Reciprocal translocations involving chromosomes 12q13 and 12q14 have also been observed within. Although this condition is benign, it can sometimes be very painful depending on location of the lipomas. Some patients who are concerned with cosmetics seek removal of individual lipomas. Removal can include simple excision, endoscopic removal, or liposuction. Other entities which are accompanied by multiple lipomas include Proteus syndrome, Cowden syndrome and related disorders due ...
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Madelung Disease
Benign symmetric lipomatosis is a skin condition characterized by extensive symmetric fat deposits in the head, neck, and shoulder girdle area. The German surgeon Otto Wilhelm Madelung was the first to give a detailed description of the disorder. This condition is very rare, with an estimated incidence of 1 in 25,000, and affects males up to 30 times more frequently than females. Cause The cause of the disease remains unknown, but its incidence strongly correlates with alcohol use disorder; abstinence from alcohol prevents disease progression. Defects in the adrenergic-stimulated lipolysis and accumulation of embryological brown fat have also been reported. Cosmetic disfigurement due to the fat deposition in the cervicothoracic region results in a "pseudoathletic appearance", resembling the Italian statue ''Warrior of Capestrano'' and carvings of Queen of Punt (Egypt). Treatment Traditionally the treatment is mainly surgical, consisting of the removal of the lipomas, although r ...
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Benign Symmetric Lipomatosis
Benign symmetric lipomatosis is a skin condition characterized by extensive symmetric fat deposits in the head, neck, and shoulder girdle area. The German surgeon Otto Wilhelm Madelung was the first to give a detailed description of the disorder. This condition is very rare, with an estimated incidence of 1 in 25,000, and affects males up to 30 times more frequently than females. Cause The cause of the disease remains unknown, but its incidence strongly correlates with alcohol use disorder; abstinence from alcohol prevents disease progression. Defects in the adrenergic-stimulated lipolysis and accumulation of embryological brown fat have also been reported. Cosmetic disfigurement due to the fat deposition in the cervicothoracic region results in a "pseudoathletic appearance", resembling the Italian statue ''Warrior of Capestrano'' and carvings of Queen of Punt (Egypt). Treatment Traditionally the treatment is mainly surgical, consisting of the removal of the lipomas, although r ...
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Lipoma
A lipoma is a benign tumor made of fat tissue. They are generally soft to the touch, movable, and painless. They usually occur just under the skin, but occasionally may be deeper. Most are less than in size. Common locations include upper back, shoulders, and abdomen. It is possible to have a number of lipomas. The cause is generally unclear. Risk factors include family history, obesity, and lack of exercise. Diagnosis is typically based on a physical exam. Occasionally medical imaging or tissue biopsy is used to confirm the diagnosis. Treatment is typically by observation or surgical removal. Rarely, the condition may recur following removal, but this can generally be managed with repeat surgery. They are not generally associated with a future risk of cancer. Lipomas have a prevalence of roughly 2 out of every 100 people. Lipomas typically occur in adults between 40 and 60 years of age. Males are more often affected than females. They are the most common noncancerous so ...
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Adiposis Dolorosa
Adiposis dolorosa is an outdated term for many years used synonymously as Dercum's disease, lipedema Lipedema is a condition that is almost exclusively found in women and results in enlargement of both legs due to deposits of fat under the skin. Women of any weight may develop lipedema and the fat associated with lipedema is resistant to traditi ... or Anders disease. While there are numerous references to adiposis dolorosa, it is recommended that the term no longer be used. Dercum's is now recognized as a separate condition, as is lipedema.Herbst K, Mirkovskaya L, Bharhagava A, Chava Y, Te CH. Lipedema Fat and Signs and Symptoms of Illness, Increase with Advancing Stage. Archives of Medicine. 2015;7(4:10):1-8. References {{Reflist Endocrine diseases Conditions of the subcutaneous fat Rare diseases Diseases of veins, lymphatic vessels and lymph nodes Medical controversies ...
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Rare Disease
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. Orphan drugs are ones so created or sold. Most rare diseases are genetic and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the rarest known genetic disease. No single cut-off number has been agreed upon for which a disease is considered rare. A disease may be considered rare in one part of the world, or in a particular g ...
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Salivary Glands
The salivary glands in mammals are exocrine glands that produce saliva through a system of ducts. Humans have three paired major salivary glands ( parotid, submandibular, and sublingual), as well as hundreds of minor salivary glands. Salivary glands can be classified as serous, mucous, or seromucous (mixed). In serous secretions, the main type of protein secreted is alpha-amylase, an enzyme that breaks down starch into maltose and glucose, whereas in mucous secretions, the main protein secreted is mucin, which acts as a lubricant. In humans, 1200 to 1500 ml of saliva are produced every day. The secretion of saliva (salivation) is mediated by parasympathetic stimulation; acetylcholine is the active neurotransmitter and binds to muscarinic receptors in the glands, leading to increased salivation. The fourth pair of salivary glands, the tubarial glands discovered in 2020, are named for their location, being positioned in front and over the torus tubarius. However, this fin ...
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Heart
The heart is a muscular organ in most animals. This organ pumps blood through the blood vessels of the circulatory system. The pumped blood carries oxygen and nutrients to the body, while carrying metabolic waste such as carbon dioxide to the lungs. In humans, the heart is approximately the size of a closed fist and is located between the lungs, in the middle compartment of the chest. In humans, other mammals, and birds, the heart is divided into four chambers: upper left and right atria and lower left and right ventricles. Commonly the right atrium and ventricle are referred together as the right heart and their left counterparts as the left heart. Fish, in contrast, have two chambers, an atrium and a ventricle, while most reptiles have three chambers. In a healthy heart blood flows one way through the heart due to heart valves, which prevent backflow. The heart is enclosed in a protective sac, the pericardium, which also contains a small amount of fluid. The wall of ...
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Virchow's Metamorphosis
Rudolf Ludwig Carl Virchow (; or ; 13 October 18215 September 1902) was a German physician, anthropologist, pathologist, prehistorian, biologist, writer, editor, and politician. He is known as "the father of modern pathology" and as the founder of social medicine, and to his colleagues, the "Pope of medicine". Virchow studied medicine at the Friedrich Wilhelm University under Johannes Peter Müller. While working at the Charité hospital, his investigation of the 1847–1848 typhus epidemic in Upper Silesia laid the foundation for public health in Germany, and paved his political and social careers. From it, he coined a well known aphorism: "Medicine is a social science, and politics is nothing else but medicine on a large scale". His participation in the Revolution of 1848 led to his expulsion from Charité the next year. He then published a newspaper ''Die Medizinische Reform'' (''The Medical Reform''). He took the first Chair of Pathological Anatomy at the University of ...
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Hypertension
Hypertension (HTN or HT), also known as high blood pressure (HBP), is a long-term medical condition in which the blood pressure in the arteries is persistently elevated. High blood pressure usually does not cause symptoms. Long-term high blood pressure, however, is a major risk factor for stroke, coronary artery disease, heart failure, atrial fibrillation, peripheral arterial disease, vision loss, chronic kidney disease, and dementia. Hypertension is a major cause of premature death worldwide. High blood pressure is classified as primary (essential) hypertension or secondary hypertension. About 90–95% of cases are primary, defined as high blood pressure due to nonspecific lifestyle and genetic factors. Lifestyle factors that increase the risk include excess salt in the diet, excess body weight, smoking, and alcohol use. The remaining 5–10% of cases are categorized as secondary high blood pressure, defined as high blood pressure due to an identifiable cause, such ...
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Obese
Obesity is a medical condition, sometimes considered a disease, in which excess body fat has accumulated to such an extent that it may negatively affect health. People are classified as obese when their body mass index (BMI)—a person's weight divided by the square of the person's height—is over ; the range is defined as overweight. Some East Asian countries use lower values to calculate obesity. Obesity is a major cause of disability and is correlated with various diseases and conditions, particularly cardiovascular diseases, type 2 diabetes, obstructive sleep apnea, certain types of cancer, and osteoarthritis. Obesity has individual, socioeconomic, and environmental causes. Some known causes are diet, physical activity, automation, urbanization, genetic susceptibility, medications, mental disorders, economic policies, endocrine disorders, and exposure to endocrine-disrupting chemicals. While a majority of obese individuals at any given time are attempting to lo ...
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Hibernoma
A hibernoma is a benign neoplasm of vestigial brown fat. The term was originally used by the French anatomist Louis Gery in 1914. Signs and symptoms Patients present with a slow-growing, painless, solitary mass, usually of the subcutaneous tissues. It is much less frequently noted in the intramuscular tissue. It is not uncommon for symptoms to be present for years. Benign neoplasm with brown fat is noted. Diagnosis Imaging findings In general, imaging studies show a well-defined, heterogeneous mass, usually showing a mass which is hypointense to subcutaneous fat on magnetic resonance T1-weight images. Serpentine, thin, low signal bands (septations or vessels) are often seen throughout the tumor. Pathology findings From a macroscopic perspective, there is a well-defined, encapsulated or circumscribed mass, showing a soft, yellow tan to deep brown mass. The size ranges from 1 to 27 cm, although the mean is about 10 cm. The tumors histologically resemble brown fat ...
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