Adams–Nance Syndrome
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Adams–Nance Syndrome
Adams–Nance syndrome is a medical condition consisting of persistent tachycardia, paroxysmal hypertension and seizures. It is associated with hyperglycinuria, dominantly inherited microphthalmia Microphthalmia (Greek: grc, μικρός, mikros, small, label=none, grc, ὀφθαλμός, ophthalmos, eye, label=none, also referred as microphthalmos, is a developmental disorder of the eye in which one (unilateral microphthalmia) or both ( ... and cataracts. It is thought to be caused by a disturbance in glycine metabolism. References * External links * Syndromes affecting the heart Diseases named for discoverer {{endocrine-disease-stub ...
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Tachycardia
Tachycardia, also called tachyarrhythmia, is a heart rate that exceeds the normal resting rate. In general, a resting heart rate over 100 beats per minute is accepted as tachycardia in adults. Heart rates above the resting rate may be normal (such as with exercise) or abnormal (such as with electrical problems within the heart). Complications Tachycardia can lead to fainting. When the rate of blood flow becomes too rapid, or fast blood flow passes on damaged endothelium, it increases the friction within vessels resulting in turbulence and other disturbances. According to the Virchow's triad, this is one of the three conditions that can lead to thrombosis (i.e., blood clots within vessels). Causes Some causes of tachycardia include: * Adrenergic storm * Anaemia * Anxiety * Atrial fibrillation * Atrial flutter * Atrial tachycardia * Atrioventricular reentrant tachycardia * AV nodal reentrant tachycardia * Brugada syndrome * Circulatory shock and its various causes ( obstr ...
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Hypertension
Hypertension (HTN or HT), also known as high blood pressure (HBP), is a long-term medical condition in which the blood pressure in the arteries is persistently elevated. High blood pressure usually does not cause symptoms. Long-term high blood pressure, however, is a major risk factor for stroke, coronary artery disease, heart failure, atrial fibrillation, peripheral arterial disease, vision loss, chronic kidney disease, and dementia. Hypertension is a major cause of premature death worldwide. High blood pressure is classified as primary (essential) hypertension or secondary hypertension. About 90–95% of cases are primary, defined as high blood pressure due to nonspecific lifestyle and genetic factors. Lifestyle factors that increase the risk include excess salt in the diet, excess body weight, smoking, and alcohol use. The remaining 5–10% of cases are categorized as secondary high blood pressure, defined as high blood pressure due to an identifiable cause, such ...
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Seizure
An epileptic seizure, informally known as a seizure, is a period of symptoms due to abnormally excessive or synchronous neuronal activity in the brain. Outward effects vary from uncontrolled shaking movements involving much of the body with loss of consciousness ( tonic-clonic seizure), to shaking movements involving only part of the body with variable levels of consciousness (focal seizure), to a subtle momentary loss of awareness ( absence seizure). Most of the time these episodes last less than two minutes and it takes some time to return to normal. Loss of bladder control may occur. Seizures may be provoked and unprovoked. Provoked seizures are due to a temporary event such as low blood sugar, alcohol withdrawal, abusing alcohol together with prescription medication, low blood sodium, fever, brain infection, or concussion. Unprovoked seizures occur without a known or fixable cause such that ongoing seizures are likely. Unprovoked seizures may be exacerbated by stress or sl ...
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Hyperglycinuria
Iminoglycinuria is an autosomal recessive disorder of renal tubular transport affecting reabsorption of the amino acid glycine, and the imino acids proline and hydroxyproline. This results in excess urinary excretion of all three acids (''-uria'' denotes "in the urine"). Iminoglycinuria is a rare and complex disorder, associated with a number of genetic mutations that cause defects in both renal and intestinal transport systems of glycine and imino acids. Imino acids typically contain an imine functional group, instead of the amino group found in amino acids. Proline is considered and usually referred to as an amino acid, but unlike others, it has a secondary amine. This feature, unique to proline, identifies proline also as an imino acid. Hydroxyproline is another imino acid, made from the naturally occurring hydroxylation of proline. Presentation The primary characteristic of iminoglycinuria is the presence of glycine and imino acids in the urine. Otherwise, it is ...
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Microphthalmia
Microphthalmia (Greek: grc, μικρός, mikros, small, label=none, grc, ὀφθαλμός, ophthalmos, eye, label=none, also referred as microphthalmos, is a developmental disorder of the eye in which one (unilateral microphthalmia) or both (bilateral microphthalmia) eyes are abnormally small and have anatomic malformations. Microphthalmia is a distinct condition from anophthalmia and nanophthalmia. Although sometimes referred to as 'simple microphthalmia', nanophthalmia is a condition in which the size of the eye is small but no anatomical alterations are present. Presentation Microphthalmia is a congenital disorder in which the globe of the eye is unusually small and structurally disorganized. While the axis of an adult human eye has an average length of about , a diagnosis of microphthalmia generally corresponds to an axial length below in adults. Additionally, the diameter of the cornea is about in affected newborns and in adults with the condition. The presence of a sm ...
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Cataract
A cataract is a cloudy area in the lens of the eye that leads to a decrease in vision. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colors, blurry or double vision, halos around light, trouble with bright lights, and trouble seeing at night. This may result in trouble driving, reading, or recognizing faces. Poor vision caused by cataracts may also result in an increased risk of falling and depression. Cataracts cause 51% of all cases of blindness and 33% of visual impairment worldwide. Cataracts are most commonly due to aging but may also occur due to trauma or radiation exposure, be present from birth, or occur following eye surgery for other problems. Risk factors include diabetes, longstanding use of corticosteroid medication, smoking tobacco, prolonged exposure to sunlight, and alcohol. The underlying mechanism involves accumulation of clumps of protein or yellow-brown pigment in the lens that reduces transmission of li ...
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Syndromes Affecting The Heart
A syndrome is a set of medical signs and symptoms that are correlated with each other. A syndrome 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 ... can affect one or more of body systems. Different syndromes affect different groups of organs. This is a list of syndromes that may affect the heart. ''Syndromes affecting primarily the heart are written in bold letters. '' References External links What Is the Heart?– NIH {{Medicine ...
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