Endemic Cretinism
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Endemic Cretinism
Congenital iodine deficiency syndrome is a medical condition present at birth marked by impaired physical and mental development, due to insufficient thyroid hormone ( hypothyroidism) often caused by insufficient dietary iodine during pregnancy. It is one cause of underactive thyroid function at birth, called congenital hypothyroidism, historically referred to as cretinism (obsolete). If untreated, it results in impairment of both physical and mental development. Symptoms may include goiter, poor length growth in infants, reduced adult stature, thickened skin, hair loss, enlarged tongue, a protruding abdomen; delayed bone maturation and puberty in children; and mental deterioration, neurological impairment, impeded ovulation, and infertility in adults. In developed countries, thyroid function testing of newborns has assured that in those affected, treatment with the thyroid hormone thyroxine is begun promptly. This screening and treatment have virtually eliminated the consequenc ...
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Endocrinology
Endocrinology (from '' endocrine'' + '' -ology'') is a branch of biology and medicine dealing with the endocrine system, its diseases, and its specific secretions known as hormones. It is also concerned with the integration of developmental events proliferation, growth, and differentiation, and the psychological or behavioral activities of metabolism, growth and development, tissue function, sleep, digestion, respiration, excretion, mood, stress, lactation, movement, reproduction, and sensory perception caused by hormones. Specializations include behavioral endocrinology and comparative endocrinology. The endocrine system consists of several glands, all in different parts of the body, that secrete hormones directly into the blood rather than into a duct system. Therefore, endocrine glands are regarded as ductless glands. Hormones have many different functions and modes of action; one hormone may have several effects on different target organs, and, conversely, one target ...
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Iodine
Iodine is a chemical element with the Symbol (chemistry), symbol I and atomic number 53. The heaviest of the stable halogens, it exists as a semi-lustrous, non-metallic solid at standard conditions that melts to form a deep violet liquid at , and boils to a violet gas at . The element was discovered by the French chemist Bernard Courtois in 1811 and was named two years later by Joseph Louis Gay-Lussac, after the Ancient Greek 'violet-coloured'. Iodine occurs in many oxidation states, including iodide (I−), iodate (), and the various periodate anions. It is the least abundant of the stable halogens, being the sixty-first most abundant element. As the heaviest essential mineral nutrient, iodine is required for the synthesis of thyroid hormones. Iodine deficiency affects about two billion people and is the leading preventable cause of intellectual disabilities. The dominant producers of iodine today are Chile and Japan. Due to its high atomic number and ease of attachment to ...
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Rickets
Rickets is a condition that results in weak or soft bones in children, and is caused by either dietary deficiency or genetic causes. Symptoms include bowed legs, stunted growth, bone pain, large forehead, and trouble sleeping. Complications may include bone deformities, bone pseudofractures and fractures, muscle spasms, or an abnormally curved spine. The most common cause of rickets is a vitamin D deficiency, although hereditary genetic forms also exist. This can result from eating a diet without enough vitamin D, dark skin, too little sun exposure, exclusive breastfeeding without vitamin D supplementation, celiac disease, and certain genetic conditions. Other factors may include not enough calcium or phosphorus. The underlying mechanism involves insufficient calcification of the growth plate. Diagnosis is generally based on blood tests finding a low calcium, low phosphorus, and a high alkaline phosphatase together with X-rays. Prevention for exclusively breastfed bab ...
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Pellagra
Pellagra is a disease caused by a lack of the vitamin niacin (vitamin B3). Symptoms include inflamed skin, diarrhea, dementia, and sores in the mouth. Areas of the skin exposed to either sunlight or friction are typically affected first. Over time affected skin may become darker, stiffen, peel, or bleed. There are two main types of pellagra, primary and secondary. Primary pellagra is due to a diet that does not contain enough niacin and tryptophan. Secondary pellagra is due to a poor ability to use the niacin within the diet. This can occur as a result of alcoholism, long-term diarrhea, carcinoid syndrome, Hartnup disease, and a number of medications such as isoniazid. Diagnosis is typically based on symptoms and may be assisted by urine testing. Treatment is with either niacin or nicotinamide supplementation. Improvements typically begin within a couple of days. General improvements in diet are also frequently recommended. Decreasing sun exposure via sunscreen and proper c ...
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Savoy
Savoy (; frp, Savouè ; french: Savoie ) is a cultural-historical region in the Western Alps. Situated on the cultural boundary between Occitania and Piedmont, the area extends from Lake Geneva in the north to the Dauphiné in the south. Savoy emerged as the feudal County of Savoy ruled by the House of Savoy during the 11th to 14th centuries. The original territory, also known as "ducal Savoy" or "Savoy proper", is largely co-terminous with the modern French Savoie and Haute-Savoie ''départements'', but the historical expansion of Savoyard territories, as the Duchy of Savoy (1416–1860) included parts of what is now western Italy and southwestern Switzerland. The current border between France and Italy is due to the Plombières Agreement of 1858, which in preparation for the unification of Italy ceded western Savoy to France, while the eastern territories in Piedmont and Liguria were retained by the House of Savoy, which was to become the ruling dynasty of Italy. ...
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Sardinia
Sardinia ( ; it, Sardegna, label=Italian, Corsican and Tabarchino ; sc, Sardigna , sdc, Sardhigna; french: Sardaigne; sdn, Saldigna; ca, Sardenya, label=Algherese and Catalan) is the second-largest island in the Mediterranean Sea, after Sicily, and one of the 20 regions of Italy. It is located west of the Italian Peninsula, north of Tunisia and immediately south of the French island of Corsica. It is one of the five Italian regions with some degree of domestic autonomy being granted by a special statute. Its official name, Autonomous Region of Sardinia, is bilingual in Italian and Sardinian: / . It is divided into four provinces and a metropolitan city. The capital of the region of Sardinia — and its largest city — is Cagliari. Sardinia's indigenous language and Algherese Catalan are referred to by both the regional and national law as two of Italy's twelve officially recognized linguistic minorities, albeit gravely endangered, while the regional law provides ...
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Charles Albert Of Sardinia
Charles Albert (; 2 October 1798 – 28 July 1849) was the King of Sardinia from 27 April 1831 until 23 March 1849. His name is bound up with the first Italian constitution, the Statuto Albertino, Albertine Statute, and with the First Italian War of Independence (1848–1849). During the Napoleonic era, Napoleonic period, he resided in French First Republic, France, where he received a liberal education. As Prince of Carignano in 1821, he granted and then withdrew his support for a rebellion which sought to force Victor Emmanuel I of Sardinia, Victor Emmanuel I to institute a constitutional monarchy. He became a conservative and participated in the Hundred Thousand Sons of Saint Louis, legitimist expedition against the Spanish liberals in 1823. He became king of Sardinia in 1831 on the death of his distant cousin Charles Felix of Sardinia, Charles Felix, who had no heir. As king, after an initial conservative period during which he supported various European legitimist movemen ...
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Goitre
A goitre, or goiter, is a swelling in the neck resulting from an enlarged thyroid gland. A goitre can be associated with a thyroid that is not functioning properly. Worldwide, over 90% of goitre cases are caused by iodine deficiency. The term is from the Latin ''gutturia'', meaning throat. Most goitres are not cancerous ( benign), though they may be potentially harmful. Signs and symptoms A goitre can present as a palpable or visible enlargement of the thyroid gland at the base of the neck. A goitre, if associated with hypothyroidism or hyperthyroidism, may be present with symptoms of the underlying disorder. For hyperthyroidism, the most common symptoms are associated with adrenergic stimulation: tachycardia (increased heart rate), palpitations, nervousness, tremor, increased blood pressure and heat intolerance. Clinical manifestations are often related to hypermetabolism, (increased metabolism), excessive thyroid hormone, an increase in oxygen consumption, metabolic changes in ...
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Pediatrics (journal)
''Pediatrics'' is a peer-reviewed medical journal published by the American Academy of Pediatrics. In the inaugural January 1948 issue, the journal's first editor-in-chief, Hugh McCulloch, articulated the journal's vision: "The content of the journal is... intended to encompass the needs of the whole child in his physiologic, mental, emotional, and social structure. The single word, Pediatrics, has been chosen to indicate this catholic intent." ''Pediatrics'' has been continuously published by the American Academy of Pediatrics since January 1948. According to the ''Journal Citation Reports'', the journal has a 2020 impact factor of 7.124, ranking it fourth out of 119 journals in the category "Pediatrics". Editors The following persons have been editor-in-chief of ''Pediatrics'': *1948–1954 Hugh McCulloch *1954–1961 Charles D. May *1962–1974 Clement A. Smith Clement Andrew Smith (1901 – December 31, 1988) was an American pediatrician and the editor-in-chief of the journal ' ...
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Newborn Screening
Newborn screening (NBS) is a public health program of screening in infants shortly after birth for conditions that are treatable, but not clinically evident in the newborn period. The goal is to identify infants at risk for these conditions early enough to confirm the diagnosis and provide intervention that will alter the clinical course of the disease and prevent or ameliorate the clinical manifestations. NBS started with the discovery that the amino acid disorder phenylketonuria (PKU) could be treated by dietary adjustment, and that early intervention was required for the best outcome. Infants with PKU appear normal at birth, but are unable to metabolize the essential amino acid phenylalanine, resulting in irreversible intellectual disability. In the 1960s, Robert Guthrie developed a simple method using a bacterial inhibition assay that could detect high levels of phenylalanine in blood shortly after a baby was born. Guthrie also pioneered the collection of blood on filt ...
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Insulin-like Growth Factor 1
Insulin-like growth factor 1 (IGF-1), also called somatomedin C, is a hormone similar in molecular structure to insulin which plays an important role in childhood growth, and has anabolic effects in adults. IGF-1 is a protein that in humans is encoded by the ''IGF1'' gene. IGF-1 consists of 70 amino acids in a single chain with three intramolecular disulfide bridges. IGF-1 has a molecular weight of 7,649 Daltons. In dogs, an ancient mutation in IGF1 is the primary cause of the toy phenotype. IGF-1 is produced primarily by the liver. Production is stimulated by growth hormone (GH). Most of IGF-1 is bound to one of 6 binding proteins (IGF-BP). IGFBP-1 is regulated by insulin. IGF-1 is produced throughout life; the highest rates of IGF-1 production occur during the pubertal growth spurt. The lowest levels occur in infancy and old age. A synthetic analog of IGF-1, mecasermin, is used in children for the treatment of growth failure. Cyclic glycine-proline (cGP) is metabolit ...
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