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Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism (PPHP) is an inherited disorder, named for its similarity to pseudohypoparathyroidism in presentation. It is more properly Albright hereditary osteodystrophy although without resistance of parathyroid hormone as frequently seen in that affliction. The term Pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of Pseudohypoparathyroidism type 1a, but has (unexpected for the phenotype) normal labs including calcium and PTH. It can be considered a variant of Albright hereditary osteodystrophy, or Pseudohypoparathyroidism type 1A, as they present with the same constellation of signs and symptoms, including short stature, brachydactyly, subcutaneous calcification, and obesity. Presentation Pseudopseudohypoparathyroidism can be best understood by comparing it to other conditions: Hormone resistance is not present in Pseudopseudohypoparathyroidism. Short stature may be present. Obesity is less ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pseudohypoparathyroidism
Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone. Those with the condition have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is appropriately high (due to the low level of calcium in the blood). Its pathogenesis has been linked to dysfunctional G Proteins (in particular, Gs alpha subunit). Pseudohypoparathyroidism is a very rare disorder, with estimated prevalence between 0.3 and 1.1 cases per 100000 population depending on geographic location. Types Types include: ;Type 1a : Has a characteristic phenotypic appearance (Albright's hereditary osteodystrophy), including short fourth and fifth metacarpals and a rounded facies. It is most likely an autosomal dominant disorder. It is also associated with thyroid stimulating hormone resistance. Caused by GNAS1 mutation. ; Type 1b : Lacks the physical appearance of type 1a, but is biochemically similar. It is associated with a methylation defect ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pseudohypoparathyroidism
Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone. Those with the condition have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is appropriately high (due to the low level of calcium in the blood). Its pathogenesis has been linked to dysfunctional G Proteins (in particular, Gs alpha subunit). Pseudohypoparathyroidism is a very rare disorder, with estimated prevalence between 0.3 and 1.1 cases per 100000 population depending on geographic location. Types Types include: ;Type 1a : Has a characteristic phenotypic appearance (Albright's hereditary osteodystrophy), including short fourth and fifth metacarpals and a rounded facies. It is most likely an autosomal dominant disorder. It is also associated with thyroid stimulating hormone resistance. Caused by GNAS1 mutation. ; Type 1b : Lacks the physical appearance of type 1a, but is biochemically similar. It is associated with a methylation defect ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypoparathyroidism
Hypoparathyroidism is decreased function of the parathyroid glands with underproduction of parathyroid hormone (PTH). This can lead to low levels of calcium in the blood, often causing cramping and twitching of muscles or tetany (involuntary muscle contraction), and several other symptoms. It is a very rare disease. The condition can be inherited, but it is also encountered after thyroid or parathyroid gland surgery, and it can be caused by immune system-related damage as well as a number of rarer causes. The diagnosis is made with blood tests, and other investigations such as genetic testing depending on the results. The primary treatment of hypoparathyroidism is calcium and vitamin D supplementation. Calcium replacement or vitamin D can ameliorate the symptoms but can increase the risk of kidney stones and chronic kidney disease. Additionally, injectable medications such as recombinant human parathyroid hormone or teriparatide may be given by injection to replace the missing ho ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypoparathyroidism
Hypoparathyroidism is decreased function of the parathyroid glands with underproduction of parathyroid hormone (PTH). This can lead to low levels of calcium in the blood, often causing cramping and twitching of muscles or tetany (involuntary muscle contraction), and several other symptoms. It is a very rare disease. The condition can be inherited, but it is also encountered after thyroid or parathyroid gland surgery, and it can be caused by immune system-related damage as well as a number of rarer causes. The diagnosis is made with blood tests, and other investigations such as genetic testing depending on the results. The primary treatment of hypoparathyroidism is calcium and vitamin D supplementation. Calcium replacement or vitamin D can ameliorate the symptoms but can increase the risk of kidney stones and chronic kidney disease. Additionally, injectable medications such as recombinant human parathyroid hormone or teriparatide may be given by injection to replace the missing ho ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Albright's Hereditary Osteodystrophy
Albright's hereditary osteodystrophy is a form of osteodystrophy, and is classified as the phenotype of pseudohypoparathyroidism type 1A; this is a condition in which the body does not respond to parathyroid hormone. Signs and symptoms The disorder is characterized by the following: * Hypogonadism * Brachydactyly syndrome * Choroid plexus calcification * Hypoplasia of dental enamel * Full cheeks * Hypocalcemic tetany Individuals with Albright hereditary osteodystrophy exhibit short stature, characteristically shortened fourth and fifth metacarpals, rounded facies, and often mild intellectual deficiency. Albright hereditary osteodystrophy is commonly known as pseudohypoparathyroidism because the kidney responds as if parathyroid hormone were absent. Blood levels of parathyroid hormone are elevated in pseudohypoparathyroidism due to the hypocalcemia Genetics This condition is associated with genetic imprinting. It is thought to be inherited in an autosomal dominant pattern, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Antidisestablishmentarianism
Antidisestablishmentarianism (, ) is a position that advocates that a state Church (the "established church") should continue to receive government patronage, rather than be disestablished. In 19th century Britain, it developed as a political movement in opposition to disestablishmentarianism, the Liberal Party's efforts to disestablish or remove the Church of England as the official state church of England, Ireland, and Wales. The Church's status has been maintained in England, but in Ireland, the Anglican Church of Ireland was disestablished in 1871. In Wales, four Church of England dioceses were disestablished in 1920 and became the Church in Wales. In colonial America, the Church of England was disestablished in six colonies despite its mild popularity in Anglicanism in the 1780s and many former Anglicans deemed themselves Episcopalians instead. ''Antidisestablishmentarianism'' is also frequently noted as one of the longest non-scientific words in the English language ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Albright Hereditary Osteodystrophy
Albright's hereditary osteodystrophy is a form of osteodystrophy, and is classified as the phenotype of pseudohypoparathyroidism type 1A; this is a condition in which the body does not respond to parathyroid hormone. Signs and symptoms The disorder is characterized by the following: * Hypogonadism * Brachydactyly syndrome * Choroid plexus calcification * Hypoplasia of dental enamel * Full cheeks * Hypocalcemic tetany Individuals with Albright hereditary osteodystrophy exhibit short stature, characteristically shortened fourth and fifth metacarpals, rounded facies, and often mild intellectual deficiency. Albright hereditary osteodystrophy is commonly known as pseudohypoparathyroidism because the kidney responds as if parathyroid hormone were absent. Blood levels of parathyroid hormone are elevated in pseudohypoparathyroidism due to the hypocalcemia Genetics This condition is associated with genetic imprinting. It is thought to be inherited in an autosomal dominant pattern ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein GNAS PDB 1azs
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid residue ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Short Stature
Short stature refers to a height of a human which is below typical. Whether a person is considered short depends on the context. Because of the lack of preciseness, there is often disagreement about the degree of shortness that should be called ''short''. Dwarfism is the condition of being very short, often caused by a medical condition. In a medical context, short stature is typically defined as an adult height that is more than two standard deviations below a population’s mean for age and gender, which corresponds to the shortest 2.3% of individuals in that population. The median or typical adult height in developed countries is about for men and for women. Causes Shortness in children and young adults nearly always results from below-average growth in childhood, while shortness in older adults usually results from loss of height due to kyphosis of the spine or collapsed vertebrae from osteoporosis. The most common causes of short stature in childhood are constitutional ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Obesity
Obesity is a medical condition, sometimes considered a disease, in which excess body fat has accumulated to such an extent that it may negatively affect health. People are classified as obese when their body mass index (BMI)—a person's weight divided by the square of the person's height—is over ; the range is defined as overweight. Some East Asian countries use lower values to calculate obesity. Obesity is a major cause of disability and is correlated with various diseases and conditions, particularly cardiovascular diseases, type 2 diabetes, obstructive sleep apnea, certain types of cancer, and osteoarthritis. Obesity has individual, socioeconomic, and environmental causes. Some known causes are diet, physical activity, automation, urbanization, genetic susceptibility, medications, mental disorders, economic policies, endocrine disorders, and exposure to endocrine-disrupting chemicals. While a majority of obese individuals at any given time are attempting to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osteoma Cutis
Osteoma cutis is a cutaneous condition characterized by the presence of bone within the skin in the absence of a preexisting or associated lesion. See also * Calcinosis cutis * Skin lesion * List of cutaneous conditions Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against t ... References External links Skin conditions resulting from errors in metabolism {{Cutaneous-condition-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
In Vitro
''In vitro'' (meaning in glass, or ''in the glass'') studies are performed with microorganisms, cells, or biological molecules outside their normal biological context. Colloquially called "test-tube experiments", these studies in biology and its subdisciplines are traditionally done in labware such as test tubes, flasks, Petri dishes, and microtiter plates. Studies conducted using components of an organism that have been isolated from their usual biological surroundings permit a more detailed or more convenient analysis than can be done with whole organisms; however, results obtained from ''in vitro'' experiments may not fully or accurately predict the effects on a whole organism. In contrast to ''in vitro'' experiments, ''in vivo'' studies are those conducted in living organisms, including humans, and whole plants. Definition ''In vitro'' ( la, in glass; often not italicized in English usage) studies are conducted using components of an organism that have been isolated fro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
