Trisomy-21
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Trisomy-21
Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with child development, physical growth delays, mild to moderate intellectual disability, and Facies (medical), characteristic facial features. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an eight- or nine-year-old child, but this can vary widely. The parents of the affected individual are usually genetically normal. The probability increases from less than 0.1% in 20-year-old mothers to 3% in those of age 45. The extra chromosome is believed to occur by chance, with no known behavioral activity or environmental factor that changes the probability. Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing or after birth by direct observation and genetic testing. Since the introduction of screening, Down syndr ...
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Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice ...
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Post-secondary Education
Tertiary education, also referred to as third-level, third-stage or post-secondary education, is the educational level following the completion of secondary education. The World Bank, for example, defines tertiary education as including universities as well as trade schools and colleges. Higher education is taken to include undergraduate and postgraduate education, while vocational education beyond secondary education is known as ''further education'' in the United Kingdom, or included under the category of ''continuing education'' in the United States. Tertiary education generally culminates in the receipt of certificates, diplomas, or academic degrees. UNESCO stated that tertiary education focuses on learning endeavors in specialized fields. It includes academic and higher vocational education. The World Bank's 2019 World Development Report on the future of work argues that given the future of work and the increasing role of technology in value chains, tertiary education ...
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Leukemia
Leukemia ( also spelled leukaemia and pronounced ) is a group of blood cancers that usually begin in the bone marrow and result in high numbers of abnormal blood cells. These blood cells are not fully developed and are called ''blasts'' or ''leukemia cells''. Symptoms may include bleeding and bruising, bone pain, fatigue, fever, and an increased risk of infections. These symptoms occur due to a lack of normal blood cells. Diagnosis is typically made by blood tests or bone marrow biopsy. The exact cause of leukemia is unknown. A combination of genetic factors and environmental (non-inherited) factors are believed to play a role. Risk factors include smoking, ionizing radiation, petrochemicals (such as benzene), prior chemotherapy, and Down syndrome. People with a family history of leukemia are also at higher risk. There are four main types of leukemia— acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), chronic lymphocytic leukemia (CLL) and chronic ...
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Epilepsy
Epilepsy is a group of non-communicable neurological disorders characterized by recurrent epileptic seizures. Epileptic seizures can vary from brief and nearly undetectable periods to long periods of vigorous shaking due to abnormal electrical activity in the brain. These episodes can result in physical injuries, either directly such as broken bones or through causing accidents. In epilepsy, seizures tend to recur and may have no immediate underlying cause. Isolated seizures that are provoked by a specific cause such as poisoning are not deemed to represent epilepsy. People with epilepsy may be treated differently in various areas of the world and experience varying degrees of social stigma due to the alarming nature of their symptoms. The underlying mechanism of epileptic seizures is excessive and abnormal neuronal activity in the cortex of the brain which can be observed in the electroencephalogram (EEG) of an individual. The reason this occurs in most cases of epilepsy ...
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Congenital Heart Defect
A congenital heart defect (CHD), also known as a congenital heart anomaly and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. A congenital heart defect is classed as a cardiovascular disease. Signs and symptoms depend on the specific type of defect. Symptoms can vary from none to life-threatening. When present, symptoms may include rapid breathing, bluish skin ( cyanosis), poor weight gain, and feeling tired. CHD does not cause chest pain. Most congenital heart defects are not associated with other diseases. A complication of CHD is heart failure. The cause of a congenital heart defect is often unknown. Risk factors include certain infections during pregnancy such as rubella, use of certain medications or drugs such as alcohol or tobacco, parents being closely related, or poor nutritional status or obesity in the mother. Having a parent with a congenital heart defect is also a risk factor. A number of genetic ...
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Developmental Milestones
Child development stages are the theoretical milestones of child development, some of which are asserted in nativist theories. This article discusses the most widely accepted developmental stages in children. There exists a wide variation in terms of what is considered "normal", caused by variation in genetic, cognitive, physical, family, cultural, nutritional, educational, and environmental factors. Many children reach some or most of these milestones at different times from the norm. Holistic development sees the child in the round, as a whole person – physically, emotionally, intellectually, socially, morally, culturally and spiritually. Learning about child development involves studying patterns of growth and development, from which guidelines for 'normal' development are construed. Developmental norms are sometimes called milestones – they define the recognised pattern of development that children are expected to follow. Each child develops in a unique way; however, ...
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Immunodeficiency
Immunodeficiency, also known as immunocompromisation, is a state in which the immune system's ability to fight infectious diseases and cancer is compromised or entirely absent. Most cases are acquired ("secondary") due to extrinsic factors that affect the patient's immune system. Examples of these extrinsic factors include HIV infection and environmental factors, such as nutrition. Immunocompromisation may also be due to genetic diseases/flaws such as SCID. In clinical settings, immunosuppression by some drugs, such as steroids, can either be an adverse effect or the intended purpose of the treatment. Examples of such use is in organ transplant surgery as an anti- rejection measure and in patients with an overactive immune system, as in autoimmune diseases. Some people are born with intrinsic defects in their immune system, or primary immunodeficiency. A person who has an immunodeficiency of any kind is said to be immunocompromised. An immunocompromised individual may parti ...
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Boy With Down Syndrome
A boy is a young male human. The term is commonly used for a child or an adolescent. When a male human reaches adulthood, he is described as a man. Definition, etymology, and use According to the ''Merriam-Webster Dictionary'', a boy is "a male child from birth to adulthood". The word "boy" comes from Middle English ''boi, boye'' ("boy, servant"), related to other Germanic words for ''boy'', namely East Frisian ''boi'' ("boy, young man") and West Frisian ''boai'' ("boy"). Although the exact etymology is obscure, the English and Frisian forms probably derive from an earlier Anglo-Frisian *''bō-ja'' ("little brother"), a diminutive of the Germanic root *''bō-'' ("brother, male relation"), from Proto-Indo-European *''bhā-'', *''bhāt-'' ("father, brother"). The root is also found in Norwegian dialectal ''boa'' ("brother"), and, through a reduplicated variant *''bō-bō-'', in Old Norse ''bófi'', Dutch ''boef'' "(criminal) knave, rogue", German ''Bube'' ("knave, rogue ...
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A Boy With Down Syndrome Using Cordless Drill To Assemble A Book Case
A, or a, is the first letter and the first vowel of the Latin alphabet, used in the modern English alphabet, the alphabets of other western European languages and others worldwide. Its name in English is ''a'' (pronounced ), plural ''aes''. It is similar in shape to the Ancient Greek letter alpha, from which it derives. The uppercase version consists of the two slanting sides of a triangle, crossed in the middle by a horizontal bar. The lowercase version can be written in two forms: the double-storey a and single-storey ɑ. The latter is commonly used in handwriting and fonts based on it, especially fonts intended to be read by children, and is also found in italic type. In English grammar, " a", and its variant " an", are indefinite articles. History The earliest certain ancestor of "A" is aleph (also written 'aleph), the first letter of the Phoenician alphabet, which consisted entirely of consonants (for that reason, it is also called an abjad to distinguish it f ...
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Édouard Séguin
Édouard Séguin (January 20, 1812 – October 28, 1880) was a French physician and educationist born in Clamecy, Nièvre. He is remembered for his work with children having cognitive impairments in France and the United States. Background and career in France He studied at the Collège d’Auxerre and the Lycée Saint-Louis in Paris, and from 1837 studied and worked under Jean Marc Gaspard Itard, who was an educator of deaf-mute individuals, that included the celebrated case of Victor of Aveyron, also known as "The Wild Child". It was Itard who persuaded Séguin to dedicate himself to study the causes, as well as the training of individuals with intellectual disabilities. As a young man, Séguin was also influenced by the ideas of utopian socialist Henri de Saint-Simon. Around 1840, he established the first private school in Paris dedicated to the education of individuals with intellectual disabilities. In 1846, he published ''Traitement Moral, Hygiène, et Education des Idiots ...
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Jean-Étienne Dominique Esquirol
Jean-Étienne Dominique Esquirol (3 February 1772 – 12 December 1840) was a French psychiatrist. Early life and education Born and raised in Toulouse, Esquirol completed his education at Montpellier. He came to Paris in 1799 where he worked at the Salpêtrière Hospital and became a favorite student of Philippe Pinel. To enable Esquirol to take up the intensive study of insanity in an appropriate setting, Pinel reportedly put up the security for the house and garden on Rue de Buffon where Esquirol established a '' maison de santé'' or private asylum in 1801 or 1802. Esquirol's ''maison'' was quite successful, being ranked, in 1810, as one of the three best such institutions in Paris. In 1805 he published his thesis ''The passions considered as causes, symptoms and means of cure in cases of insanity''. Esquirol, like Pinel, believed that the origin of mental illness could be found in the passions of the soul and was convinced that madness does not fully and irremediably ...
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John Langdon Down
John Langdon Haydon Down (18 November 1828 – 7 October 1896) was a British physician best known for his description of the genetic condition now known as Down syndrome, which he originally classified in 1862. He is also noted for his work in social medicine and as a pioneer in the care of mentally disabled patients. Early life Down was born in Torpoint, Cornwall, the youngest of seven children of the merchant Thomas Joseph Down. His father was originally from Derry in Ireland, and his mother, Hannah Haydon, from North Devon. His father was descended from an Irish family, his great-great grandfather having been the Protestant Bishop of Derry and Raphoe. John Down went to local schools including the Devonport Classical and Mathematical School. At 14 he was apprenticed to his father, the village apothecary at Anthony St Jacob's. The vicar gave him a present of Arnott's ''Physics'' which made him determined to take up a scientific career. In 1846 he had a chance encounter with a ...
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