Asphyxiating Thoracic Dysplasia
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Asphyxiating Thoracic Dysplasia
Asphyxiating thoracic dysplasia (ATD), also known as Jeune syndrome, is a rare inherited bone growth disorder (autosomal recessive skeletal dysplasia) that primarily affects the thoracic region. It was first described in 1955 by the French pediatrician Mathis Jeune. Common signs and symptoms can include a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). The restricted growth and expansion of the lungs caused by this disorder results in life-threatening breathing difficulties; occurring in 1 in every 100,000-130,000 live births in the United States. People who are affected with this disorder live short lives either only into infancy or early childhood. If they live beyond childhood, breathing problems can improve with age, but there is a possibility of developing severe kidney or heart problems. Several mutations in different genes such as  '' IFT80'', ''DYNC2H1'', '' WDR19'', '' IFT140'' and '' TTC21B'' h ...
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Polydactyly
Polydactyly or polydactylism (), also known as hyperdactyly, is an anomaly in humans and animals resulting in supernumerary fingers and/or toes. Polydactyly is the opposite of oligodactyly (fewer fingers or toes). Signs and symptoms In humans/animals this condition can present itself on one or both hands or feet. The extra digit is usually a small piece of soft tissue that can be removed. Occasionally it contains bone without joints; rarely it may be a complete functioning digit. The extra digit is most common on the ulnar (little finger) side of the hand, less common on the radial ( thumb) side, and very rarely within the middle three digits. These are respectively known as postaxial (little finger), preaxial (thumb), and central (ring, middle, index fingers) polydactyly. The extra digit is most commonly an abnormal fork in an existing digit, or it may rarely originate at the wrist as a normal digit does. The incidence of congenital deformities in newborns is approximately 2 ...
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Dwarfism
Dwarfism is a condition wherein an organism is exceptionally small, and mostly occurs in the animal kingdom. In humans, it is sometimes defined as an adult height of less than , regardless of sex; the average adult height among people with dwarfism is , although some individuals with dwarfism are slightly taller. ''Disproportionate dwarfism'' is characterized by either short limbs or a short torso. In cases of ''proportionate dwarfism'', both the limbs and torso are unusually small. Intelligence is usually normal, and most have a nearly normal life expectancy. People with dwarfism can usually bear children, though there are additional risks to the mother and child dependent upon the underlying condition. The most common and recognisable form of dwarfism in humans (comprising 70% of cases) is achondroplasia, a genetic disorder whereby the limbs are diminutive. Growth hormone deficiency is responsible for most other cases. Treatment depends on the underlying cause. Those ...
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Methyl Methacrylate
Methyl methacrylate (MMA) is an organic compound with the formula CH2=C(CH3)COOCH3. This colorless liquid, the methyl ester of methacrylic acid (MAA), is a monomer produced on a large scale for the production of poly(methyl methacrylate) (PMMA). Production and properties Given the scale of production, many methods have been developed starting from diverse two- to four-carbon precursors.. Two principal routes appear to be commonly practiced. Cyanohydrin route The compound is manufactured by several methods, the principal one being the acetone cyanohydrin (ACH) route. ACH is produced by condensation of acetone and hydrogen cyanide. The cyanohydrin is hydrolyzed in the presence of sulfuric acid to a sulfate ester of the methacrylamide. Methanolysis of this ester gives ammonium bisulfate and MMA. Although widely used, the ACH route coproduces substantial amounts of ammonium sulfate. :(CH3)2CO + HCN → (CH3)2C(OH)CN :(CH3)2C(OH)CN + H2SO4 → (CH3)2C(OSO3H)C(O)NH ...
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Median Sternotomy
Median sternotomy is a type of surgical procedure in which a vertical inline incision is made along the sternum, after which the sternum itself is divided using a sternal saw. This procedure provides access to the heart and lungs for surgical procedures such as heart transplant, lung transplant, corrective surgery for congenital heart defects, or coronary artery bypass surgery Coronary artery bypass surgery, also known as coronary artery bypass graft (CABG, pronounced "cabbage") is a surgical procedure to treat coronary artery disease (CAD), the buildup of plaques in the arteries of the heart. It can relieve chest pai .... References {{Cardiac surgery Thoracic surgical procedures Surgical incisions ...
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