Osler–Weber–Rendu Disease
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Osler–Weber–Rendu Disease
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain. It may lead to nosebleeds, acute and chronic digestive tract bleeding, and various problems due to the involvement of other organs. Treatment focuses on reducing bleeding from blood vessel lesions, and sometimes surgery or other targeted interventions to remove arteriovenous malformations in organs. Chronic bleeding often requires iron supplements and sometimes blood transfusions. HHT is transmitted in an autosomal dominant fashion, and occurs in one in 5,000–8,000 people in North America. The disease carries the names of Sir William Osler, Henri Jules Louis Marie Rendu, and Frederick Parkes Weber, who described it in the late 19th and early 20th centuries. Signs and symptoms ...
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Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice of ...
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Frederick Parkes Weber
Frederick Parkes Weber (8 May 1863 – 2 June 1962) was an English dermatologist and author who practiced medicine in London. Background Weber's father, Sir Hermann David Weber (1823–1918), was a personal physician to Queen Victoria. Weber was educated at Charterhouse and Trinity College, Cambridge. He subsequently studied medicine at St. Bartholomew's Hospital, and abroad at Vienna and Paris. Career Returning to England, he worked (since 1894) at the German Hospital, Dalston (London), later he became House Physician and House Surgeon at St. Bartholomew's Hospital. He was subsequently House Physician at Brompton Hospital and Physician at Mount Vernon Hospital. Weber contributed over 1200 medical articles and wrote 23 books over a period of 50 years. In 1922, he, along with his wife, published a philosophical medical tome called ''Aspects of Death and Correlated Aspects of Life in Art, Epigram, and Poetry''. Weber was a prodigious describer of new and unique dermat ...
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Spinal Cord
The spinal cord is a long, thin, tubular structure made up of nervous tissue, which extends from the medulla oblongata in the brainstem to the lumbar region of the vertebral column (backbone). The backbone encloses the central canal of the spinal cord, which contains cerebrospinal fluid. The brain and spinal cord together make up the central nervous system (CNS). In humans, the spinal cord begins at the occipital bone, passing through the foramen magnum and then enters the spinal canal at the beginning of the cervical vertebrae. The spinal cord extends down to between the first and second lumbar vertebrae, where it ends. The enclosing bony vertebral column protects the relatively shorter spinal cord. It is around long in adult men and around long in adult women. The diameter of the spinal cord ranges from in the cervical and lumbar regions to in the thoracic area. The spinal cord functions primarily in the transmission of nerve signals from the motor cortex to the body, ...
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Cerebral Arteriovenous Malformation
A cerebral arteriovenous malformation (cerebral AVM, CAVM, cAVM) is an abnormal connection between the arteries and veins in the brain—specifically, an arteriovenous malformation in the cerebrum. Signs and symptoms The most frequently observed problems, related to an AVM, are headaches and seizures, cranial nerve deficits, backaches, neckaches and eventual nausea, as the coagulated blood makes its way down to be dissolved in the individual's spinal fluid. It is supposed that 15% of the population, at detection, have no symptoms at all. Other common symptoms are a pulsing noise in the head, progressive weakness and numbness and vision changes as well as debilitating, excruciating pain. In serious cases, the blood vessels rupture and there is bleeding within the brain (intracranial hemorrhage). Nevertheless, in more than half of patients with AVM, hemorrhage is the first symptom. Symptoms due to bleeding include loss of consciousness, sudden and severe headache, nausea, vomiting, ...
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Pulmonary Arteriovenous Malformation
Arteriovenous malformation is an abnormal connection between arteries and veins, bypassing the capillary system. This vascular anomaly is widely known because of its occurrence in the central nervous system (usually cerebral AVM), but can appear in any location. Although many AVMs are asymptomatic, they can cause intense pain or bleeding or lead to other serious medical problems. AVMs are usually congenital and belong to the RASopathies. The genetic transmission patterns of AVMs are incomplete, but there are known genetic mutations (for instance in the epithelial line, tumor suppressor PTEN gene) which can lead to an increased occurrence throughout the body. Signs and symptoms Symptoms of AVM vary according to the location of the malformation. Roughly 88% of people with an AVM are asymptomatic; often the malformation is discovered as part of an autopsy or during treatment of an unrelated disorder (called in medicine an "incidental finding"); in rare cases, its expansion or a ...
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Arteriovenous Malformation
Arteriovenous malformation is an abnormal connection between arteries and veins, bypassing the capillary system. This vascular anomaly is widely known because of its occurrence in the central nervous system (usually cerebral AVM), but can appear in any location. Although many AVMs are asymptomatic, they can cause intense pain or bleeding or lead to other serious medical problems. AVMs are usually congenital and belong to the RASopathies. The genetic transmission patterns of AVMs are incomplete, but there are known genetic mutations (for instance in the epithelial line, tumor suppressor PTEN gene) which can lead to an increased occurrence throughout the body. Signs and symptoms Symptoms of AVM vary according to the location of the malformation. Roughly 88% of people with an AVM are asymptomatic; often the malformation is discovered as part of an autopsy or during treatment of an unrelated disorder (called in medicine an "incidental finding"); in rare cases, its expansion or a ...
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AVM Grossly
AVM may refer to: *Arteriovenous malformation, a congenital disorder of the veins and arteries that make up the vascular system *Cerebral arteriovenous malformation, an abnormal connection of the veins and arteries in the brain *Acute viral meningitis, inflammation of the protective membranes covering the brain and spinal cord, caused by a viral infection *Air Vice-Marshal, a rank in the United Kingdom and many Commonwealth air forces *Associação Visão de Macau or Vision Macau, a political party in Macao *AVM GmbH, a German manufacturer of broadband modems and consumer networking devices *Astronomy Visualization Metadata, a standard for tagging digital astronomical images with astronomical information *ActionScript Virtual Machine, a component of Adobe Flash Player *Adarsha Vidya Mandir, a school in Lalitpur, Nepal *MetroCity AVM, a modern shopping mall in Istanbul, Turkey *AVM Productions, a film production house in Tamil Nadu, India *Automated Valuation Model, a mathematical mo ...
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Iron-deficiency Anemia
Iron-deficiency anemia is anemia caused by a iron deficiency, lack of iron. Anemia is defined as a decrease in the number of red blood cells or the amount of hemoglobin in the blood. When onset is slow, symptoms are often vague such as Fatigue (medical), feeling tired, weak, dyspnea, short of breath, or having decreased ability to exercise. Anemia that comes on quickly often has more severe symptoms, including decreased level of consciousness, confusion, Presyncope, feeling like one is going to pass out or increased thirst. Anemia is typically significant before a person becomes noticeably pallor, pale. Children with iron deficiency anemia may have problems with growth and development. There may be additional symptoms depending on the underlying cause. Iron-deficiency anemia is caused by blood loss, insufficient dietary intake, or Malabsorption, poor absorption of iron from food. Sources of blood loss can include heavy Menstruation, periods, childbirth, uterine fibroids, stomach u ...
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Iron
Iron () is a chemical element with symbol Fe (from la, ferrum) and atomic number 26. It is a metal that belongs to the first transition series and group 8 of the periodic table. It is, by mass, the most common element on Earth, right in front of oxygen (32.1% and 30.1%, respectively), forming much of Earth's outer and inner core. It is the fourth most common element in the Earth's crust. In its metallic state, iron is rare in the Earth's crust, limited mainly to deposition by meteorites. Iron ores, by contrast, are among the most abundant in the Earth's crust, although extracting usable metal from them requires kilns or furnaces capable of reaching or higher, about higher than that required to smelt copper. Humans started to master that process in Eurasia during the 2nd millennium BCE and the use of iron tools and weapons began to displace copper alloys, in some regions, only around 1200 BCE. That event is considered the transition from the Bronze Age to the Iron A ...
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Melena
Melena or melaena refers to the dark black, tarry feces that are associated with upper gastrointestinal bleeding. The black color and characteristic strong odor are caused by hemoglobin in the blood being altered by digestive enzymes and intestinal bacteria. Iron supplements may cause a grayish-black stool that should be distinguished from melena, as should black coloration caused by a number of medications, such as bismuth subsalicylate (the active ingredient in Pepto-Bismol), or by foods such as beetroot, black liquorice, or blueberries. Causes The most common cause of melena is peptic ulcer disease. However, any bleeding within the upper gastrointestinal tract or the ascending colon can lead to melena. Melena may also be a complication of anticoagulant medications, such as warfarin. Causes of upper gastrointestinal bleeding that may result in melena include malignant tumors affecting the esophagus, stomach or small intestine, hemorrhagic blood diseases, such as thrombocytop ...
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Hematemesis
Hematemesis is the vomiting of blood. It is always an important sign. It can be confused with hemoptysis (coughing up blood) or epistaxis (nosebleed), which are more common. The source is generally the upper gastrointestinal tract, typically above the suspensory muscle of duodenum. It may be caused by ulcers, tumors of the stomach or esophagus, varices, prolonged and vigorous retching, gastroenteritis, ingested blood (from bleeding in the mouth, nose, or throat), or certain drugs. Hematemesis is treated as a medical emergency, with treatments based on the amount of blood loss. Investigations include endoscopy. Any blood loss may be corrected with intravenous fluids and blood transfusions. Patients may need to avoid taking anything by mouth. Definition Hematemesis is the vomiting of blood. This is usually vomit that contains bright red blood. Coffee ground vomiting is similar to hematemesis, but is distinct in not involving bright red blood. Hematemesis is always an importa ...
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Finger
A finger is a limb of the body and a type of digit, an organ of manipulation and sensation found in the hands of most of the Tetrapods, so also with humans and other primates. Most land vertebrates have five fingers ( Pentadactyly). Chambers 1998 p. 603 Oxford Illustrated pp. 311, 380 Land vertebrate fingers The five-rayed anterior limbs of terrestrial vertebrates can be derived phylogenetically from the pectoral fins of fish. Within the taxa of the terrestrial vertebrates, the basic pentadactyl plan, and thus also the fingers and phalanges, undergo many variations. Morphologically the different fingers of terrestrial vertebrates are homolog. The wings of birds and those of bats are not homologous, they are analogue flight organs. However, the phalanges within them are homologous. Chimpanzees have lower limbs that are specialized for manipulation, and (arguably) have fingers on their lower limbs as well. In the case of Primates in general, the digits of the hand a ...
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