Angelo Maffucci
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Angelo Maffucci
Angelo Maria Maffucci (October 27, 1847 – November 24, 1903) was an Italian pathologist of the nineteenth century. His most important scientific contribution is related to the description of the disease known as Maffucci’s Syndrome. Maffucci was a pioneer in the field of embryonal infective pathology. His settlement in Pisa, as the chairman of Pathology, represents a very significant moment for the Pisan academic environment and for the University of Pisa. Biography Early life and education Angelo Maria Maffucci was an Italian pathologist born in the town of Calitri in the province of Avellino on October 27, 1847, from a family of farmers, son of Michele and Benedetta Nicolais. His parents, who at first wanted him to continue the traditional family business, to then embrace the ecclesiastical career, were disappointed when after completing his secondary studies, Maffucci enrolled in the degree course in Medicine and Surgery at the University of Naples from which he graduate ...
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Calitri
Calitri ( la, Caletrium or ; Irpino: ) is a town and ''comune'' in the province of Avellino, Campania, Italy. Overview Calitri is in Campania near the borders of the regions of Apulia and Basilicata. It is approximately above sea level so on even on the hottest day there is generally a breeze. The Antico Borgo is in the oldest section of the town, the centro storico, at the top of which are the remains of a castle which predates the 12th century. The Borgo itself is a labyrinth of historic houses which have, over the centuries, been built into the hillside. Stone and marble stairs, frequently under old stone arches, connect the streets. Calitri suffered a devastating 1980 Irpinia earthquake, earthquake in 1980 and has only been partially rebuilt. The Castello at the top of its distinctive cone shaped hilltop is very impressive for its strong architectural forms. In recent reconstructions they are remerging as an important and physically attractive feature of the town. Other re ...
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Florence
Florence ( ; it, Firenze ) is a city in Central Italy and the capital city of the Tuscany region. It is the most populated city in Tuscany, with 383,083 inhabitants in 2016, and over 1,520,000 in its metropolitan area.Bilancio demografico anno 2013, datISTAT/ref> Florence was a centre of medieval European trade and finance and one of the wealthiest cities of that era. It is considered by many academics to have been the birthplace of the Renaissance, becoming a major artistic, cultural, commercial, political, economic and financial center. During this time, Florence rose to a position of enormous influence in Italy, Europe, and beyond. Its turbulent political history includes periods of rule by the powerful Medici family and numerous religious and republican revolutions. From 1865 to 1871 the city served as the capital of the Kingdom of Italy (established in 1861). The Florentine dialect forms the base of Standard Italian and it became the language of culture throughout Ital ...
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Isocitrate Dehydrogenase
Isocitrate dehydrogenase (IDH) () and () is an enzyme that catalyzes the oxidative decarboxylation of isocitrate, producing alpha-ketoglutarate (α-ketoglutarate) and CO2. This is a two-step process, which involves oxidation of isocitrate (a secondary alcohol) to oxalosuccinate (a ketone), followed by the decarboxylation of the carboxyl group beta to the ketone, forming alpha-ketoglutarate. In humans, IDH exists in three isoforms: IDH3 catalyzes the third step of the citric acid cycle while converting NAD+ to NADH in the mitochondria. The isoforms IDH1 and IDH2 catalyze the same reaction outside the context of the citric acid cycle and use NADP+ as a cofactor instead of NAD+. They localize to the cytosol as well as the mitochondrion and peroxisome. Isozymes The following is a list of human isocitrate dehydrogenase isozymes: NADP+ dependent Each NADP+-dependent isozyme functions as a homodimer: See also * Isocitrate/isopropylmalate dehydrogenase family NAD+ depe ...
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Isocitrate Dehydrogenase 2
Isocitrate dehydrogenase ADP mitochondrial is an enzyme that in humans is encoded by the ''IDH2'' gene. Isocitrate dehydrogenases are enzymes that catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by the IDH2 gene is the NADP(+)-dependent isocitrate dehydrogenase found in the mitochondria. It plays a role in intermediary metabolism and energy production. This protein may tightly associate or interact with the pyruvate dehydrogenase complex. Somatic mosaic mutations of this gene have also been found associat ...
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Isocitrate Dehydrogenase (NADP+) Kinase
In enzymology, a socitrate dehydrogenase (NADP+)kinase () is an enzyme that catalyzes the chemical reaction: :ATP + socitrate dehydrogenase (NADP+)\rightleftharpoons ADP + socitrate dehydrogenase (NADP+)phosphate Thus, the two substrates of this enzyme are ATP and isocitrate dehydrogenase (NADP+), whereas its two products are ADP and isocitrate dehydrogenase (NADP+) phosphate. This enzyme belongs to the family of transferases, specifically those transferring a phosphate group to the sidechain oxygen atom of serine or threonine residues in proteins (protein-serine/threonine kinases). Other names The systematic name A systematic name is a name given in a systematic way to one unique group, organism, object or chemical substance, out of a specific population or collection. Systematic names are usually part of a nomenclature. A semisystematic name or semitrivial ... of this enzyme class is ATP: socitrate dehydrogenase (NADP+)phosphotransferase. Other names in common use incl ...
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IDH2
Isocitrate dehydrogenase ADP mitochondrial is an enzyme that in humans is encoded by the ''IDH2'' gene. Isocitrate dehydrogenases are enzymes that catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by the IDH2 gene is the NADP(+)-dependent isocitrate dehydrogenase found in the mitochondria. It plays a role in intermediary metabolism and energy production. This protein may tightly associate or interact with the pyruvate dehydrogenase complex. Somatic mosaic mutations of this gene have also been found associat ...
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IDH1
Isocitrate dehydrogenase 1 (NADP+), soluble is an enzyme that in humans is encoded by the ''IDH1'' gene on chromosome 2. Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which uses NAD+ as the electron acceptor and the other NADP+. Five isocitrate dehydrogenases have been reported: three NAD+-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP+-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP+-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP+-dependent isocitrate dehydrogenase found in the cytoplasm and peroxisomes. It contains the PTS-1 peroxisomal targeting signal sequence. The presence of this enzyme in peroxisomes suggests roles in the regeneration of NADPH for intraperoxisomal reductions, such as the conversion of 2,4-dienoyl-CoAs to 3 ...
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Chondrosarcoma
Chondrosarcoma is a bone sarcoma, a primary cancer composed of cells derived from transformed cells that produce cartilage. A chondrosarcoma is a member of a category of tumors of bone and soft tissue known as sarcomas. About 30% of bone sarcomas are chondrosarcomas. It is resistant to chemotherapy and radiotherapy. Unlike other primary bone sarcomas that mainly affect children and adolescents, a chondrosarcoma can present at any age. It more often affects the axial skeleton than the appendicular skeleton. Types Symptoms and signs * Back or thigh pain * Sciatica * Bladder Symptoms * Unilateral edema Causes The cause is unknown. There may be a history of enchondroma or osteochondroma. A small minority of secondary chondrosarcomas occur in people with Maffucci syndrome and Ollier disease. It has been associated with faulty isocitrate dehydrogenase 1 and 2 enzymes, which are also associated with gliomas and leukemias. Diagnosis Imaging studies – including radiographs ("x-ray ...
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Cancer
Cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body. These contrast with benign tumors, which do not spread. Possible signs and symptoms include a lump, abnormal bleeding, prolonged cough, unexplained weight loss, and a change in bowel movements. While these symptoms may indicate cancer, they can also have other causes. Over 100 types of cancers affect humans. Tobacco use is the cause of about 22% of cancer deaths. Another 10% are due to obesity, poor diet, lack of physical activity or excessive drinking of alcohol. Other factors include certain infections, exposure to ionizing radiation, and environmental pollutants. In the developing world, 15% of cancers are due to infections such as ''Helicobacter pylori'', hepatitis B, hepatitis C, human papillomavirus infection, Epstein–Barr virus and human immunodeficiency virus (HIV). These factors act, at least partly, by changing the genes of ...
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Enchondroma
Enchondroma is a type of benign bone tumor belonging to the group of cartilage tumors. There may be no symptoms, or it may present typically in the short tubular bones of the hands with a swelling, pain or pathological fracture. Diagnosis is by X-ray, CT scan and sometimes MRI. Most occur as a less than three centimetre size single tumor. When several occur in one long bone or several bones, the syndrome is called enchondromatosis. Where there are no symptoms, treatment is often not needed. If treatment is required, curettage may be performed. Less than 1% become malignant, unless part of a syndrome. They comprise around 30% of cartilage tumors. 90% of tumors in the hand are enchondromas. Symptoms and signs Individuals with an enchondroma often have no symptoms at all. The following are the most common symptoms of an enchondroma. However, each individual may experience symptoms differently. Symptoms may include: * Pain that may occur at the site of the tumor if the tumor i ...
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Angioma
Angiomas are benign tumors derived from cells of the vascular or lymphatic vessel walls (endothelium) or derived from cells of the tissues surrounding these vessels. Angiomas are a frequent occurrence as patients age, but they might be an indicator of systemic problems such as liver disease. They are not commonly associated with cancer. Signs and symptoms Angiomas usually appear at or near the surface of the skin anywhere on the body, and may be considered bothersome depending on their location. However, they may be present as symptoms of another more serious disorder, such as cirrhosis. When they are removed, it is generally for cosmetic reasons. Types * Hemangiomas # Capillary: Cherry hemangioma, Infantile haemangioma # Cavernous # Pyogenic granuloma * Lymphangiomas # Capillary (simple) # Cavernous (cystic) * Glomus tumor * Vascular ectasias # Naevus flammeus # Telangiectasia - Spider, Hereditary hemorrhagic * Reactive vascular proliferations # Bacillary angiomatosis S ...
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Enchondroma
Enchondroma is a type of benign bone tumor belonging to the group of cartilage tumors. There may be no symptoms, or it may present typically in the short tubular bones of the hands with a swelling, pain or pathological fracture. Diagnosis is by X-ray, CT scan and sometimes MRI. Most occur as a less than three centimetre size single tumor. When several occur in one long bone or several bones, the syndrome is called enchondromatosis. Where there are no symptoms, treatment is often not needed. If treatment is required, curettage may be performed. Less than 1% become malignant, unless part of a syndrome. They comprise around 30% of cartilage tumors. 90% of tumors in the hand are enchondromas. Symptoms and signs Individuals with an enchondroma often have no symptoms at all. The following are the most common symptoms of an enchondroma. However, each individual may experience symptoms differently. Symptoms may include: * Pain that may occur at the site of the tumor if the tumor i ...
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