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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 consequences ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypothyroidism
Hypothyroidism (also called ''underactive thyroid'', ''low thyroid'' or ''hypothyreosis'') is a disorder of the endocrine system in which the thyroid gland does not produce enough thyroid hormone. It can cause a number of symptoms, such as poor ability to tolerate cold, a feeling of tiredness, constipation, slow heart rate, depression, and weight gain. Occasionally there may be swelling of the front part of the neck due to goiter. Untreated cases of hypothyroidism during pregnancy can lead to delays in growth and intellectual development in the baby or congenital iodine deficiency syndrome. Worldwide, too little iodine in the diet is the most common cause of hypothyroidism. Hashimoto's thyroiditis is the most common cause of hypothyroidism in countries with sufficient dietary iodine. Less common causes include previous treatment with radioactive iodine, injury to the hypothalamus or the anterior pituitary gland, certain medications, a lack of a functioning thyroi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Hypothyroidism
Congenital hypothyroidism (CH) is thyroid hormone deficiency present at birth. If untreated for several months after birth, severe congenital hypothyroidism can lead to growth failure and permanent intellectual disability. Infants born with congenital hypothyroidism may show no effects, or may display mild effects that often go unrecognized as a problem. Significant deficiency may cause excessive sleeping, reduced interest in nursing, poor muscle tone, low or hoarse cry, infrequent bowel movements, significant jaundice, and low body temperature. Causes of congenital hypothyroidism include iodine deficiency and a developmental defect in the thyroid gland, either due to a genetic defect or of unknown cause. Treatment consists of a daily dose of thyroid hormone ( thyroxine) by mouth. Because the treatment is simple, effective, and inexpensive, most of the developed world utilizes newborn screening with blood thyroid stimulating hormone (TSH) levels to detect congenital hyp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Iodine Deficiency
Iodine deficiency is a lack of the trace element iodine, an essential nutrient in the diet. It may result in metabolic problems such as goiter, sometimes as an endemic goiter as well as congenital iodine deficiency syndrome due to untreated congenital hypothyroidism, which results in developmental delays and other health problems. Iodine deficiency is an important global health issue, especially for fertile and pregnant women. It is also a preventable cause of intellectual disability. Iodine is an essential dietary mineral for neurodevelopment among children. The thyroid hormones thyroxine and triiodothyronine contain iodine. In areas where there is little iodine in the diet, typically remote inland areas where no marine foods are eaten, iodine deficiency is common. It is also common in mountainous regions of the world where food is grown in iodine-poor soil. Prevention includes adding small amounts of iodine to table salt, a product known as '' iodized salt''. Iodine compound ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mental Impairment
Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation, Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. It is defined by an IQ under 70, in addition to deficits in two or more adaptive behaviors that affect everyday, general living. Intellectual functions are defined under DSM-V as reasoning, problem‑solving, planning, abstract thinking, judgment, academic learning, and learning from instruction and experience, and practical understanding confirmed by both clinical assessment and standardized tests. Adaptive behavior is defined in terms of conceptual, social, and practical skills involving tasks performed by people in their everyday lives. Intellectual disability is subdivided into syndromic intellectual disability, in which intellectual deficits associated with other medical and beh ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypopituitarism
Hypopituitarism is the decreased (''hypo'') secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain. If there is decreased secretion of one specific pituitary hormone, the condition is known as selective hypopituitarism. If there is decreased secretion of most or all pituitary hormones, the term panhypopituitarism (''pan'' meaning "all") is used. The signs and symptoms of hypopituitarism vary, depending on which hormones are undersecreted and on the underlying cause of the abnormality. The diagnosis of hypopituitarism is made by blood tests, but often specific scans and other investigations are needed to find the underlying cause, such as tumors of the pituitary, and the ideal treatment. Most hormones controlled by the secretions of the pituitary can be replaced by tablets or injections. Hypopituitarism is a rare disease, but may be significantly underdiagnosed in people with previous traumatic brain injury. The first de ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Growth Hormone Receptor
Growth hormone receptor is a protein that in humans is encoded by the ''GHR'' gene. GHR orthologs have been identified in most mammals. Structure Growth hormone receptor (GHR) is a transmembrane protein consisting of 620 amino acids. The receptor is part of the Type I cytokine receptor family of receptors. GHR exists in two forms as a full length membrane-bound receptor and as a soluble GH binding protein (GHBP). GHR contains two fibronectin type III β domains in its extracellular domain, whereas the intracellular domain contains tyrosine Kinase JAK2 binding sites for SH2 proteins. JAK2 is the primary signal transducer for growth hormone. Function This gene encodes a protein that is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to reorientation of a pre-assembled receptor dimer dimerization (the receptor may however also exist as monomers on the cell surface ) and the activation of an intra- and intercellular signal transductio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 metabol ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 fil ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
