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Syndromes
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, ...
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Down Syndrome
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 physical growth delays, mild to moderate intellectual disability, and 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 syndrome pregnancies are often a ...
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Signs And Symptoms
Signs and symptoms are the observed or detectable signs, and experienced symptoms of an illness, injury, or condition. A sign for example may be a higher or lower temperature than normal, raised or lowered blood pressure or an abnormality showing on a medical scan. A symptom is something out of the ordinary that is experienced by an individual such as feeling feverish, a headache or other pain or pains in the body. Signs and symptoms Signs A medical sign is an objective observable indication of a disease, injury, or abnormal physiological state that may be detected during a physical examination, examining the patient history, or diagnostic procedure. These signs are visible or otherwise detectable such as a rash or bruise. Medical signs, along with symptoms, assist in formulating diagnostic hypothesis. Examples of signs include elevated blood pressure, nail clubbing of the fingernails or toenails, staggering gait, and arcus senilis and arcus juvenilis of the eyes. Indicati ...
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Andersen–Tawil Syndrome
Andersen–Tawil syndrome, also called Andersen syndrome and long QT syndrome 7, is a rare genetic disorder affecting several parts of the body. The three predominant features of Andersen–Tawil syndrome include disturbances of the electrical function of the heart characterised by an abnormality seen on an electrocardiogram (a long QT interval) and a tendency to abnormal heart rhythms, physical characteristics including low-set ears and a small lower jaw, and intermittent periods of muscle weakness known as hypokalaemic periodic paralysis. Andersen–Tawil syndrome is inherited in an autosomal dominant pattern. It is caused in most cases by a mutation in the ''KCNJ2'' gene which encodes an ion channel that transports potassium out of cardiac muscle cells. The arrhythmias seen in the condition can be treated with flecainide or beta-blockers, but an implantable defibrillator may sometimes be required. Periodic paralysis can be treated with carbonic anhydrase inhibitors such ...
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Toxic Shock Syndrome
Toxic shock syndrome (TSS) is a condition caused by bacterial toxins. Symptoms may include fever, rash, skin peeling, and low blood pressure. There may also be symptoms related to the specific underlying infection such as mastitis, osteomyelitis, necrotising fasciitis, or pneumonia. TSS is typically caused by bacteria of the ''Streptococcus pyogenes'' or ''Staphylococcus aureus'' type, though others may also be involved. Streptococcal toxic shock syndrome is sometimes referred to as toxic-shock-like syndrome (TSLS). The underlying mechanism involves the production of superantigens during an invasive streptococcus infection or a localized staphylococcus infection. Risk factors for the staphylococcal type include the use of very absorbent tampons, skin lesions in young children characterized by fever, low blood pressure, rash, vomiting and/or diarrhea, and multiorgan failure. Diagnosis is typically based on symptoms. Treatment includes intravenous fluids, antibiotics, inci ...
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Mental Disorders
A mental disorder, also referred to as a mental illness or psychiatric disorder, is a behavioral or mental pattern that causes significant distress or impairment of personal functioning. Such features may be persistent, relapsing and remitting, or occur as single episodes. Many disorders have been described, with signs and symptoms that vary widely between specific disorders. Such disorders may be diagnosed by a mental health professional, usually a clinical psychologist or psychiatrist. The causes of mental disorders are often unclear. Theories may incorporate findings from a range of fields. Mental disorders are usually defined by a combination of how a person behaves, feels, perceives, or thinks. This may be associated with particular regions or functions of the brain, often in a social context. A mental disorder is one aspect of mental health. Cultural and religious beliefs, as well as social norms, should be taken into account when making a diagnosis. Services ...
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Birth Defect
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be ...
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Premenstrual Syndrome
Premenstrual syndrome (PMS) refers to emotional and physical symptoms that regularly occur in the one to two weeks before the start of each menstrual period. Symptoms resolve around the time menstrual bleeding begins. Different women experience different symptoms. Premenstrual syndrome is commonly noted by at least one physical, emotional, or behavioral symptom, that resolves with menses. The range of symptoms is wide, and most commonly are breast tenderness, bloating, headache, mood swings, depression, anxiety, anger, and irritability. They must interfere with daily living, during two menstrual cycles of prospective recording. These symptoms are nonspecific and may be seen in women without PMS. Often PMS-related symptoms are present for about six days. An individual's pattern of symptoms may change over time. Symptoms do not occur during pregnancy or following menopause.> Diagnosis requires a consistent pattern of emotional and physical symptoms occurring after ovulatio ...
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Teratology
Teratology is the study of abnormalities of physiological development in organisms during their life span. It is a sub-discipline in medical genetics which focuses on the classification of congenital abnormalities in dysmorphology. The related term developmental toxicity includes all manifestations of abnormal development that are caused by environmental insult. These may include growth retardation, delayed mental development or other congenital disorders without any structural malformations. Teratogens are substances that may cause birth defects via a toxic effect on an embryo or fetus. Known teratogens include: retinol, thalidomide, mercury, alcohol, lead, polychlorinated biphenyls (PCBs), and 2,3,7,8-tetrachlorodibenzodioxin. Etymology The term was borrowed in 1842 from the French , where it was formed in 1830 from the Greek (word stem ), meaning "sign sent by the gods, portent, marvel, monster", and ('' -ology''), used to designate a discourse, treaty, science, ...
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Neurodevelopmental Disorder
Neurodevelopmental disorders are a group of disorders that affect the development of the nervous system, leading to abnormal brain function which may affect emotion, learning ability, self-control, and memory. The effects of neurodevelopmental disorders tend to last for a person's lifetime. Types Neurodevelopmental disorders are impairments of the growth and development of the brain and/or central nervous system. A narrower use of the term refers to a disorder of brain function that affects emotion, learning ability, self-control and memory which unfolds as an individual develops and grows. According to the DSM-5, the neurodevelopmental disorders include the following: # Attention deficit hyperactivity disorder (ADHD) # DLD - Developmental language disorder (formerly known as SLI- Specific Language Impairment) # Communication, speech, or language disorders, expressive language disorder, fluency disorder, social (pragmatic) communication disorder, and speech sound diso ...
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Subclinical
In medicine, any disease is classified asymptomatic if a patient tests as carrier for a disease or infection but experiences no symptoms. Whenever a medical condition fails to show noticeable symptoms after a diagnosis it might be considered asymptomatic. Infections of this kind are usually called subclinical infections. Diseases such as mental illnesses or psychosomatic conditions are considered subclinical if they present some individual symptoms but not all those normally required for a clinical diagnosis. The term clinically silent is also found. Producing only a few, mild symptoms, disease is paucisymptomatic. Symptoms appearing later, after an asymptomatic incubation period, mean a pre-symptomatic period has existed. Importance Knowing that a condition is asymptomatic is important because: * It may develop symptoms later and only then require treatment. * It may resolve itself or become benign. * It may be contagious, and the contribution of asymptomatic and pre-symptoma ...
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Encephalitis
Encephalitis is inflammation of the brain. The severity can be variable with symptoms including reduction or alteration in consciousness, headache, fever, confusion, a stiff neck, and vomiting. Complications may include seizures, hallucinations, trouble speaking, memory problems, and problems with hearing. Causes of encephalitis include viruses such as herpes simplex virus and rabies virus as well as bacteria, fungi, or parasites. Other causes include autoimmune diseases and certain medications. In many cases the cause remains unknown. Risk factors include a weak immune system. Diagnosis is typically based on symptoms and supported by blood tests, medical imaging, and analysis of cerebrospinal fluid. Certain types are preventable with vaccines. Treatment may include antiviral medications (such as acyclovir), anticonvulsants, and corticosteroids. Treatment generally takes place in hospital. Some people require artificial respiration. Once the immediate problem is under co ...
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Pattern Recognition (psychology)
In psychology and cognitive neuroscience, pattern recognition describes a cognitive process that matches information from a stimulus with information retrieved from memory.Eysenck, Michael W.; Keane, Mark T. (2003). Cognitive Psychology: A Student's Handbook (4th ed.). Hove; Philadelphia; New York: Taylor & Francis. . OCLC 894210185. Retrieved 27 November 2014. Pattern recognition occurs when information from the environment is received and entered into short-term memory, causing automatic activation of a specific content of long-term memory. An early example of this is learning the alphabet in order. When a carer repeats ‘A, B, C’ multiple times to a child, utilizing the pattern recognition, the child says ‘C’ after they hear ‘A, B’ in order. Recognizing patterns allows us to predict and expect what is coming. The process of pattern recognition involves matching the information received with the information already stored in the brain. Making the connection between ...
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