Dorothy Andersen
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Dorothy Andersen
Dorothy Hansine Andersen (May 15, 1901 – March 3, 1963) was an American physician, pediatrician, and pathologist who was the first person to identify cystic fibrosis, the first to describe the disease, and the one to name it. in 1939, she was awarded the E. Mead Johnson Award for her identification of the disease. In 2002, she was inducted into the National Women's Hall of Fame. Early life Dorothy Hansine Andersen was born in Asheville, North Carolina on May 15, 1901. Her father, Hans Peter Andersen, died in 1914. She then assumed the full responsibility for caring for her invalid mother. After they had moved to St. Johnsbury, Vermont, Andersen's mother died in 1920. Education and initial career In 1922, Andersen was graduated with a bachelor of arts degree in zoology and chemistry from Mount Holyoke College. Later, she went on to attend Johns Hopkins School of Medicine where she first began to perform research under Florence Rena Sabin. Andersen's first two research ...
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Asheville, North Carolina
Asheville ( ) is a city in, and the county seat of, Buncombe County, North Carolina. Located at the confluence of the French Broad and Swannanoa rivers, it is the largest city in Western North Carolina, and the state's 11th-most populous city. According to the 2020 United States Census, the city's population was 94,589, up from 83,393 in the 2010 census. It is the principal city in the four-county Asheville metropolitan area, which had a population of 424,858 in 2010, and of 469,015 in 2020. History Origins Before the arrival of the Europeans, the land where Asheville now exists lay within the boundaries of the Cherokee Nation, which had homelands in modern western North and South Carolina, southeastern Tennessee, and northeastern Georgia. A town at the site of the river confluence was recorded as ''Guaxule'' by Spanish explorer Hernando de Soto during his 1540 expedition through this area. His expedition comprised the first European visitors, who carried endemic Eurasian ...
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University Of Rochester Medical Center
The University of Rochester Medical Center (URMC), now known as UR Medicine, is located in Rochester, New York, is one of the main campuses of the University of Rochester and comprises the university's primary medical education, research and patient care facilities. Schools and facilities URMC is one of the largest facilities for medical treatment and research in Upstate New York and includes a regional Prenatal Center, Trauma Center, Burn Center, Cancer Center, an Epilepsy Center, Psychiatric/Behavioral Health Emergency and treatment departments, Liver Transplant Center and Cardiac Transplant Center and also includes a major AIDS Treatment Center and an NIH-designated AIDS Vaccine Evaluation Unit. A large portion of the university's biomedical research is conducted in the Arthur Kornberg Medical Research Building and the Aab Institute of Biomedical Sciences. In January 2008, the University of Rochester announced a $500 million strategic plan geared toward expansion in research ...
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Andersen's Disease
Glycogen storage disease type IV (GSD IV), or Andersen's Disease, is a form of glycogen storage disease, which is caused by an inborn error of metabolism. It is the result of a mutation in the GBE1 gene, which causes a defect in the glycogen branching enzyme. Therefore, glycogen is not made properly and abnormal glycogen molecules accumulate in cells; most severely in cardiac and muscle cells. The severity of this disease varies on the amount of enzyme produced. GSD IV is autosomal recessive, which means each parent has a mutant copy of the gene, but show no symptoms of the disease. It affects 1 in 800,000 individuals worldwide, with 3% of all GSDs being type IV. The disease was described and studied first by Dorothy Hansine Andersen. Human pathology It is a result of the absence of the glycogen branching enzyme, which is critical in the production of glycogen. This leads to very long unbranched glucose chains being stored in glycogen. The long unbranched molecules have low so ...
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Scientific American
''Scientific American'', informally abbreviated ''SciAm'' or sometimes ''SA'', is an American popular science magazine. Many famous scientists, including Albert Einstein and Nikola Tesla, have contributed articles to it. In print since 1845, it is the oldest continuously published magazine in the United States. ''Scientific American'' is owned by Springer Nature, which in turn is a subsidiary of Holtzbrinck Publishing Group. History ''Scientific American'' was founded by inventor and publisher Rufus Porter (painter), Rufus Porter in 1845 as a four-page weekly newspaper. The first issue of the large format newspaper was released August 28, 1845. Throughout its early years, much emphasis was placed on reports of what was going on at the United States Patent and Trademark Office, U.S. Patent Office. It also reported on a broad range of inventions including perpetual motion machines, an 1860 device for buoying vessels by Abraham Lincoln, and the universal joint which now can be found ...
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Katie Hafner
Katie Hafner (born December 5, 1957) is an American journalist and author. She is a former staff member of ''The New York Times'', and has written articles about technology, healthcare, and society, and books about the computer underground, the history of the Internet, Glenn Gould's piano, and Germany during the fall of the Berlin Wall. Her first novel, ''The Boys'', was praised in The New York Times as "a wonder of storytelling." Early life and education Hafner was born in Rochester, New York, and raised in Amherst, Massachusetts. She earned a bachelor's degree in German literature from the University of California at San Diego in 1979 and a master's degree from the Columbia University Graduate School of Journalism in 1981. Career Beginning in 1983, Hafner worked as a reporter at ''Computerworld'' and then at ''The San Diego Union''. She became a staff editor at ''Business Week'' in 1986, leaving in 1989. From 1990 to 1994, she worked freelance, writing articles and books, befor ...
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Autosomal Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ...
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Glycogen Branching Enzyme
1,4-alpha-glucan-branching enzyme, also known as brancher enzyme or glycogen-branching enzyme is an enzyme that in humans is encoded by the ''GBE1'' gene. Glycogen branching enzyme is an enzyme that adds branches to the growing glycogen molecule during the synthesis of glycogen, a storage form of glucose. More specifically, during glycogen synthesis, a glucose 1-phosphate molecule reacts with uridine triphosphate (UTP) to become UDP-glucose, an activated form of glucose. The activated glucosyl unit of UDP-glucose is then transferred to the hydroxyl group at the C-4 of a terminal residue of glycogen to form an α-1,4-glycosidic linkage, a reaction catalyzed by glycogen synthase. Importantly, glycogen synthase can only catalyze the synthesis of α-1,4-glycosidic linkages. Since glycogen is a readily mobilized storage form of glucose, the extended glycogen polymer is branched by glycogen branching enzyme to provide glycogen breakdown enzymes, such as glycogen phosphorylase, with ma ...
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The American Academy Of Pediatrics
The American Academy of Pediatrics (AAP) is an American professional association of pediatricians, headquartered in Itasca, Illinois. It maintains its Department of Federal Affairs office in Washington, D.C. Background The Academy was founded in 1930 by 35 pediatricians to address pediatric healthcare standards. It has 67,000 members in primary care and sub-specialist areas. Qualified pediatricians can become fellows (FAAP). The Academy runs continuing medical education (CME) programs for pediatricians and sub-specialists. The Academy is divided into 14 departments and 26 divisions that assist with carrying out its mission. Publications It has the largest pediatric publishing program in the world, with more than 300 titles for consumers and over 500 titles for physicians and other healthcare professionals. These publications include electronic products, professional references/textbooks, practice management publications, patient education materials, and parenting books. The ...
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Pancreas
The pancreas is an organ of the digestive system and endocrine system of vertebrates. In humans, it is located in the abdomen behind the stomach and functions as a gland. The pancreas is a mixed or heterocrine gland, i.e. it has both an endocrine and a digestive exocrine function. 99% of the pancreas is exocrine and 1% is endocrine. As an endocrine gland, it functions mostly to regulate blood sugar levels, secreting the hormones insulin, glucagon, somatostatin, and pancreatic polypeptide. As a part of the digestive system, it functions as an exocrine gland secreting pancreatic juice into the duodenum through the pancreatic duct. This juice contains bicarbonate, which neutralizes acid entering the duodenum from the stomach; and digestive enzymes, which break down carbohydrates, proteins, and fats in food entering the duodenum from the stomach. Inflammation of the pancreas is known as pancreatitis, with common causes including chronic alcohol use and gallstones. Becaus ...
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Celiac Disease
Coeliac disease (British English) or celiac disease (American English) is a long-term autoimmune disorder, primarily affecting the small intestine, where individuals develop intolerance to gluten, present in foods such as wheat, rye and barley. Classic symptoms include gastrointestinal problems such as chronic diarrhoea, abdominal distention, malabsorption, loss of appetite, and among children failure to grow normally. This often begins between six months and two years of age. Non-classic symptoms are more common, especially in people older than two years. There may be mild or absent gastrointestinal symptoms, a wide number of symptoms involving any part of the body, or no obvious symptoms. Coeliac disease was first described in childhood; however, it may develop at any age. It is associated with other autoimmune diseases, such as Type 1 diabetes mellitus and Hashimoto's thyroiditis, among others. Coeliac disease is caused by a reaction to gluten, a group of various protei ...
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Columbia Presbyterian Medical Center
The NewYork-Presbyterian Hospital is a nonprofit academic medical center in New York City affiliated with two Ivy League medical schools, Cornell University and Columbia University. The hospital comprises seven distinct campuses located in the New York metropolitan area. The hospital's two flagship medical centers are Columbia University Irving Medical Center and Weill Cornell Medical Center. , the hospital is ranked as the seventh best hospital in the United States and the second in the New York City metropolitan area by '' U.S. News & World Report''. The hospital has more than 6,500 affiliated physicians, 20,000 employees and 2,600 beds in total. It is one of the largest hospitals in the world. NYPH annually treats about 310,000 patients in its emergency department and delivers about 15,000 babies. History NewYork-Presbyterian Hospital was founded in 1771 as New York Hospital by Edinburgh Medical School graduate Samuel Bard. It received a Royal Charter granted by King Ge ...
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Babies Hospital
Morgan Stanley Children's Hospital of NewYork-Presbyterian (MSCH or CHONY) is a women's and children's hospital at 3959 Broadway, near West 165th Street, in the Washington Heights neighborhood of Manhattan, New York City. It is a part of NewYork-Presbyterian Hospital and the Columbia University Irving Medical Center. The hospital treats patients aged 0–21 from New York City and around the world. The hospital features a dedicated regional ACS designated pediatric Level 1 Trauma Center and is named after financial firm Morgan Stanley, which largely funded its construction through philanthropy. The hospital is affiliated with the Columbia University Vagelos College of Physicians and Surgeons, and many of its physicians are faculty members of the college. History The hospital has nearly 250 years of history in treating children, tracing its roots to the establishment of Columbia University's – then King's College – Department of Pediatrics in 1767. Initially founded as Babies Ho ...
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