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Morquio Syndrome
Morquio syndrome, also known as Mucopolysaccharidosis Type IV (MPS IV), is a rare metabolic disorder in which the body cannot process certain types of sugar molecules called glycosaminoglycans (AKA GAGs, or mucopolysaccharides). In Morquio syndrome, the specific GAG which builds up in the body is called keratan sulfate. This birth defect, which is autosomal recessive, is a type of lysosomal storage disorder. The buildup of GAGs in different parts of the body causes symptoms in many different organ systems. In the US, the incidence rate for Morquio syndrome is estimated at between 1 in 200,000 and 1 in 300,000 live births. Signs and symptoms Patients with Morquio syndrome appear healthy at birth. Types A and B have similar presentations, but Type B generally has milder symptoms. The age of onset is usually between 1 and 3 years of age. Morquio syndrome causes progressive changes to the skeleton of the ribs and chest, which may lead to neurological complications such as nerve ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mucopolysaccharidosis
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosome, lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the Cell (biology), cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. GAGs (formerly called mucopolysaccharides) are also found in Synovial fluid, the fluids that lubricate joints. Individuals with mucopolysaccharidosis either do not produce enough of one of the eleven enzymes required to break down these sugar chains into simpler molecules, or they produce enzymes that do not work properly. Over time, these GAGs collect in the cells, blood and connective tissues. The result is permanent, progressive cellular damage which affects appearance, physical abilities, organ and system functioning. The mucopolysaccharidoses are part of the lysosomal storage disease family, a group of more than 40 genetic disord ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
US Food And Drug Administration
The United States Food and Drug Administration (FDA or US FDA) is a federal agency of the Department of Health and Human Services. The FDA is responsible for protecting and promoting public health through the control and supervision of food safety, tobacco products, caffeine products, dietary supplements, prescription and over-the-counter pharmaceutical drugs (medications), vaccines, biopharmaceuticals, blood transfusions, medical devices, electromagnetic radiation emitting devices (ERED), cosmetics, animal foods & feed and veterinary products. The FDA's primary focus is enforcement of the Federal Food, Drug, and Cosmetic Act (FD&C), but the agency also enforces other laws, notably Section 361 of the Public Health Service Act, as well as associated regulations. Much of this regulatory-enforcement work is not directly related to food or drugs, but involves such things as regulating lasers, cellular phones, and condoms, as well as control of disease in contexts varying from h ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Birmingham
Birmingham ( ) is a city and metropolitan borough in the metropolitan county of West Midlands in England. It is the second-largest city in the United Kingdom with a population of 1.145 million in the city proper, 2.92 million in the West Midlands metropolitan county, and approximately 4.3 million in the wider metropolitan area. It is the largest UK metropolitan area outside of London. Birmingham is known as the second city of the United Kingdom. Located in the West Midlands region of England, approximately from London, Birmingham is considered to be the social, cultural, financial and commercial centre of the Midlands. Distinctively, Birmingham only has small rivers flowing through it, mainly the River Tame and its tributaries River Rea and River Cole – one of the closest main rivers is the Severn, approximately west of the city centre. Historically a market town in Warwickshire in the medieval period, Birmingham grew during the 18th century during the Midla ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
James Frederick Brailsford
James Frederick Brailsford MD, FRCP (8 July 1888 – 28 January 1961) was a British radiologist, known as the founder and first president of the British Association of Radiologists and as the co-discoverer of the Morquio (or Morquio-Brailsford) syndrome. He studied with Sir John Robertson, the Medical Officer of Health of Birmingham. In 1923 Brailsford qualified MB, ChB (Birmingham) and was appointed assistant radiologist to Queen's Hospital, Birmingham. In 1928 he received the higher qualification MD (Birmingham). As a radiologist and a demonstrator in living anatomy, he published in 1934 his famous textbook ''The Radiology of Joints and Bones'' and thereby was acknowledged as one of the world's authorities on skeletal diseases. He received PhD Birmingham (1936) and became MRCS, LRCP (1923), MRCP (1935), and FRCP (1941). Awards and honours *1927 — Robert Jones gold medal of the British Orthopaedic Association The British Orthopaedic Association is a professional associat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Montevideo
Montevideo () is the Capital city, capital and List of cities in Uruguay, largest city of Uruguay. According to the 2011 census, the city proper has a population of 1,319,108 (about one-third of the country's total population) in an area of . Montevideo is situated on the southern coast of the country, on the northeastern bank of the Río de la Plata. The city was established in 1724 by a Spanish soldier, Bruno Mauricio de Zabala, as a strategic move amidst the Spanish people, Spanish-Portuguese people, Portuguese dispute over the La Plata Basin, platine region. It was also under brief British invasions of the Río de la Plata, British rule in 1807, but eventually the city was retaken by Spanish criollos who defeated the British invasions of the River Plate. Montevideo is the seat of the administrative headquarters of Mercosur and ALADI, Latin America's leading trade blocs, a position that entailed comparisons to the role of Brussels in Europe. The 2019 Mercer's report on qual ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Uruguay
Uruguay (; ), officially the Oriental Republic of Uruguay ( es, República Oriental del Uruguay), is a country in South America. It shares borders with Argentina to its west and southwest and Brazil to its north and northeast; while bordering the Río de la Plata to the south and the Atlantic Ocean to the southeast. It is part of the Southern Cone region of South America. Uruguay covers an area of approximately and has a population of an estimated 3.4 million, of whom around 2 million live in the metropolitan area of its capital and largest city, Montevideo. The area that became Uruguay was first inhabited by groups of hunter–gatherers 13,000 years ago. The predominant tribe at the moment of the arrival of Europeans was the Charrúa people, when the Portuguese first established Colónia do Sacramento in 1680; Uruguay was colonized by Europeans late relative to neighboring countries. The Spanish founded Montevideo as a military stronghold in the early 18th century bec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Luis Morquio
Luis Morquio (September 24, 1867 – June 19, 1935) was a Uruguayan physician and professor. A medical condition, Morquio syndrome (mucopolysaccharidosis IV), is named in his honor. Biography Morquio was born on September 24, 1867 in Montevideo, Uruguay. He grew up in Montevideo and earned a medical degree from the University of the Republic in 1892. He continued his studies in Paris for two years, specializing in pathology. Upon his return to Montevideo, he became the director of an orphanage in 1894. For 40 years, Morquio worked to move away from Uruguay's system of anonymous abandonment of children, helping mothers with alternatives to abandoning their children and helping to preserve the link between mothers and children. In 1900 he became a professor of pediatrics and was promoted to chair of the department. He led the department with distinction for 35 years. Several authors highlight Morquio's work at the Charity Clinic. He felt that babies should be fed their mother's milk, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Journal Of Inherited Metabolic Disease
The ''Journal of Inherited Metabolic Disease'' is a bimonthly peer-reviewed medical journal covering inherited metabolic disorder A metabolic disorder is a disorder that negatively alters the body's processing and distribution of macronutrients, such as proteins, fats, and carbohydrates. Metabolic disorders can happen when abnormal chemical reactions in the body alter the ...s. It was established in 1978 and is the official journal of the Society for the Study of Inborn Errors of Metabolism. External links * Society for the Study of Inborn Errors of Metabolism Publications established in 1978 Medical genetics journals Wiley-Blackwell academic journals Bimonthly journals English-language journals {{genetics-journal-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heart Attack
A myocardial infarction (MI), commonly known as a heart attack, occurs when blood flow decreases or stops to the coronary artery of the heart, causing damage to the heart muscle. The most common symptom is chest pain or discomfort which may travel into the shoulder, arm, back, neck or jaw. Often it occurs in the center or left side of the chest and lasts for more than a few minutes. The discomfort may occasionally feel like heartburn. Other symptoms may include shortness of breath, nausea, feeling faint, a cold sweat or feeling tired. About 30% of people have atypical symptoms. Women more often present without chest pain and instead have neck pain, arm pain or feel tired. Among those over 75 years old, about 5% have had an MI with little or no history of symptoms. An MI may cause heart failure, an irregular heartbeat, cardiogenic shock or cardiac arrest. Most MIs occur due to coronary artery disease. Risk factors include high blood pressure, smoking, diabetes, lack of e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Respiratory Failure
Respiratory failure results from inadequate gas exchange by the respiratory system, meaning that the arterial oxygen, carbon dioxide, or both cannot be kept at normal levels. A drop in the oxygen carried in the blood is known as hypoxemia; a rise in arterial carbon dioxide levels is called hypercapnia. Respiratory failure is classified as either Type 1 or Type 2, based on whether there is a high carbon dioxide level, and can be acute or chronic. In clinical trials, the definition of respiratory failure usually includes increased respiratory rate, abnormal blood gases (hypoxemia, hypercapnia, or both), and evidence of increased work of breathing. Respiratory failure causes an altered mental status due to ischemia in the brain. The typical partial pressure reference values are oxygen Pa more than 80 mmHg (11 kPa) and carbon dioxide Pa less than 45 mmHg (6.0 kPa). Cause Several types of conditions can potentially result in respiratory failure: * Conditions that reduce the fl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Standard Deviation
In statistics, the standard deviation is a measure of the amount of variation or dispersion of a set of values. A low standard deviation indicates that the values tend to be close to the mean (also called the expected value) of the set, while a high standard deviation indicates that the values are spread out over a wider range. Standard deviation may be abbreviated SD, and is most commonly represented in mathematical texts and equations by the lower case Greek letter σ (sigma), for the population standard deviation, or the Latin letter '' s'', for the sample standard deviation. The standard deviation of a random variable, sample, statistical population, data set, or probability distribution is the square root of its variance. It is algebraically simpler, though in practice less robust, than the average absolute deviation. A useful property of the standard deviation is that, unlike the variance, it is expressed in the same unit as the data. The standard deviation of a popu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
United Kingdom
The United Kingdom of Great Britain and Northern Ireland, commonly known as the United Kingdom (UK) or Britain, is a country in Europe, off the north-western coast of the continental mainland. It comprises England, Scotland, Wales and Northern Ireland. The United Kingdom includes the island of Great Britain, the north-eastern part of the island of Ireland, and many smaller islands within the British Isles. Northern Ireland shares a land border with the Republic of Ireland; otherwise, the United Kingdom is surrounded by the Atlantic Ocean, the North Sea, the English Channel, the Celtic Sea and the Irish Sea. The total area of the United Kingdom is , with an estimated 2020 population of more than 67 million people. The United Kingdom has evolved from a series of annexations, unions and separations of constituent countries over several hundred years. The Treaty of Union between the Kingdom of England (which included Wales, annexed in 1542) and the Kingdom of Scotland in 170 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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