Sweat Test
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Sweat Test
The sweat test measures the concentration of chloride that is excreted in sweat. It is used to screen for cystic fibrosis (CF). Due to defective chloride channels ( CFTR), the concentration of chloride in sweat is elevated in individuals with CF. Background Cystic fibrosis is caused by defects in a protein found in many tissues, including the airways and the sweat glands. As a result, these tissues do not work properly. Sweat testing makes use of the fact that cystic fibrosis patients have defective sweat glands. Sweat glands produce sweat through a well understood process of secretion and reabsorption of sodium chloride (salt). Secretion entails the movement of salt and water from sweat gland cells into the sweat duct. Reabsorption occurs in the duct with the movement of salt from the sweat back into sweat duct cells. What remains is sweat, a salt solution with a relatively finely tuned concentration of sodium and chloride. For normal salt reabsorption to occur, individual ions o ...
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Concentration
In chemistry, concentration is the abundance of a constituent divided by the total volume of a mixture. Several types of mathematical description can be distinguished: '' mass concentration'', '' molar concentration'', '' number concentration'', and '' volume concentration''. The concentration can refer to any kind of chemical mixture, but most frequently refers to solutes and solvents in solutions. The molar (amount) concentration has variants, such as normal concentration and osmotic concentration. Dilution is reduction of concentration, e.g. by adding solvent to a solution. The verb to concentrate means to increase concentration, the opposite of dilute. Etymology ''Concentration-'', ''concentratio'', action or an act of coming together at a single place, bringing to a common center, was used in post-classical Latin in 1550 or earlier, similar terms attested in Italian (1589), Spanish (1589), English (1606), French (1632). Qualitative description Often in informal, non- ...
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Dehydration
In physiology, dehydration is a lack of total body water that disrupts metabolic processes. It occurs when free water loss exceeds intake, often resulting from excessive sweating, health conditions, or inadequate consumption of water. Mild dehydration can also be caused by immersion diuresis, which may increase risk of decompression sickness in divers. Most people can tolerate a 3-4% decrease in total body water without difficulty or adverse health effects. A 5-8% decrease can cause fatigue and dizziness. Loss of over 10% of total body water can cause physical and mental deterioration, accompanied by severe thirst. Death occurs with a 15 and 25% loss of body water.Ashcroft F, Life Without Water in Life at the Extremes. Berkeley and Los Angeles, 2000, 134-138. Mild dehydration usually resolves with oral rehydration, but severe cases may need intravenous fluids. Dehydration can cause hypernatremia (high levels of sodium ions in the blood). This is distinct from hypovolemia ...
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Ectodermal Dysplasia
Ectodermal Dysplasia (ED) refers to a group of genetic disorders characterized by the abnormal development or function of two or more structures that originate from the ectoderm, the outer layer of an embryo. These structures include hair, teeth, nails, and sweat glands, all of which may develop abnormally in people with ED. There are over 200 different syndromes classified under ED, each with a range of symptoms and genetic causes. The most common type is Hypohidrotic Ectodermal Dysplasia (HED), which affects approximately 1 in every 5,000 to 10,000 live births. HED primarily affects males because it is typically inherited through the X chromosome. The genetic cause of ED lies in mutations, or changes, in certain genes that play an essential role in forming ectodermal structures. These genes are part of signalling pathways—most notably, the EDA/NF-kappaB pathway—which guide the development of hair, skin, nails, teeth, and glands during embryonic growth. Genes such as ''EDA'' ...
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G6PD Deficiency
Glucose-6-phosphate dehydrogenase deficiency (G6PDD), also known as favism, is the most common enzyme deficiency anemia worldwide. It is an inborn error of metabolism that predisposes to red blood cell breakdown. Most of the time, those who are affected have no symptoms. Following a specific trigger, symptoms such as yellowish skin, dark urine, shortness of breath, and feeling tired may develop. Complications can include anemia and newborn jaundice. Some people never have symptoms. It is an X-linked recessive disorder that results in defective glucose-6-phosphate dehydrogenase enzyme. Glucose-6-phosphate dehydrogenase is an enzyme that protects red blood cells, which carry oxygen from the lungs to tissues throughout the body. A defect of the enzyme results in the premature breakdown of red blood cells. This destruction of red blood cells is called hemolysis. Red blood cell breakdown may be triggered by infections, certain medication, stress, or foods such as fava beans. Depen ...
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Diabetes Insipidus
Diabetes insipidus (DI) is a condition characterized by large amounts of dilute urine and increased thirst. The amount of urine produced can be nearly 20 liters per day. Reduction of fluid has little effect on the concentration of the urine. Complications may include dehydration or seizures. There are four types of DI, each with a different set of causes. # Central DI (CDI), now known as arginine vasopressin deficiency (AVP-D), is due to a lack of vasopressin (antidiuretic hormone) production. This can be due to injury to the hypothalamus or pituitary gland or due to genetics. # Nephrogenic DI (NDI), also known as arginine vasopressin resistance (AVP-R), occurs when the kidneys do not respond properly to vasopressin. # Dipsogenic DI is a result of excessive fluid intake due to damage to the hypothalamic thirst mechanism. It occurs more often in those with certain psychiatric disorders or on certain medications. # Gestational DI occurs only during pregnancy. Diagnosis ...
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Hypoparathyroidism
Hypoparathyroidism is decreased function of the parathyroid glands with underproduction of parathyroid hormone (PTH). This can lead to low levels of calcium in the blood, often causing cramping and twitching of muscles or tetany (involuntary muscle contraction), and several other symptoms. It is a very rare disease. The condition can be inherited, but it is also encountered after thyroid or parathyroid gland surgery, and it can be caused by immune system-related damage as well as a number of rarer causes. The diagnosis is made with blood tests, and other investigations such as genetic testing depending on the results. The primary treatment of hypoparathyroidism is calcium and vitamin D supplementation. Calcium replacement or vitamin D can ameliorate the symptoms but can increase the risk of kidney stones and chronic kidney disease. Additionally, medications such as recombinant human parathyroid hormone or teriparatide may be given by injection to replace the missing hormone. ...
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Hypothyroidism
Hypothyroidism is an endocrine disease in which the thyroid gland does not produce enough thyroid hormones. It can cause a number of symptoms, such as cold intolerance, poor ability to tolerate cold, fatigue, extreme fatigue, muscle aches, constipation, slow heart rate, Depression (mood), 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 child development, growth and intellectual development in the baby or congenital iodine deficiency syndrome. Worldwide, iodine deficiency, too little iodine in the diet is the most common cause of hypothyroidism. Hashimoto's thyroiditis, an autoimmune disease where the body's immune system reacts to the thyroid gland, is the most common cause of hypothyroidism in countries with sufficient dietary iodine. Less common causes include previous treatment with iodine-131, radioactive iodine, injury to the hypothalamus ...
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Adrenal Insufficiency
Adrenal insufficiency is a condition in which the adrenal glands do not produce adequate amounts of steroid hormones. The adrenal glands—also referred to as the adrenal cortex—normally secrete glucocorticoids (primarily cortisol), mineralocorticoids (primarily aldosterone), and androgens. These hormones are important in regulating blood pressure, electrolytes, and metabolism as a whole. Deficiency of these hormones leads to symptoms ranging from abdominal pain, vomiting, muscle weakness and fatigue, low blood pressure, depression, mood and personality changes (in mild cases) to organ failure and shock (in severe cases). Adrenal crisis may occur if a person having adrenal insufficiency experiences stresses, such as an accident, injury, surgery, or severe infection; this is a life-threatening medical condition resulting from severe deficiency of cortisol in the body. Death may quickly follow. Adrenal insufficiency can be caused by dysfunction of the adrenal gland itself, wh ...
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Malnutrition
Malnutrition occurs when an organism gets too few or too many nutrients, resulting in health problems. Specifically, it is a deficiency, excess, or imbalance of energy, protein and other nutrients which adversely affects the body's tissues and form. Malnutrition is a category of diseases that includes undernutrition and overnutrition. Undernutrition is a lack of nutrients, which can result in stunted growth, wasting, and being underweight. A surplus of nutrients causes overnutrition, which can result in obesity or toxic levels of micronutrients. In some developing countries, overnutrition in the form of obesity is beginning to appear within the same communities as undernutrition. Most clinical studies use the term 'malnutrition' to refer to undernutrition. However, the use of 'malnutrition' instead of 'undernutrition' makes it impossible to distinguish between undernutrition and overnutrition, a less acknowledged form of malnutrition. Accordingly, a 2019 report by The Lance ...
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Rash
A rash is a change of the skin that affects its color, appearance, or texture. A rash may be localized in one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, chapped, dry, cracked or blistered, swell, and may be painful. The causes, and therefore treatments for rashes, vary widely. Diagnosis must take into account such things as the appearance of the rash, other symptoms, what the patient may have been exposed to, occupation, and occurrence in family members. The diagnosis may confirm any number of conditions. The presence of a rash may aid diagnosis; associated signs and symptoms are diagnostic of certain diseases. For example, the rash in measles is an erythematous, morbilliform, maculopapular rash that begins a few days after the fever starts. It classically starts at the head, and spreads downwards. Differential diagnosis Common causes of rashes include: * Food allergy * Medication side effects * Anxiety ...
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Mineralocorticoid
Mineralocorticoids are a class of corticosteroids, which in turn are a class of steroid hormones. Mineralocorticoids are produced in the adrenal cortex and influence salt and water balances (electrolyte balance and fluid balance). The primary mineralocorticoid is aldosterone. Physiology The name mineralocorticoid derives from early observations that these hormones were involved in the retention of sodium, a mineral. The primary endogenous mineralocorticoid is aldosterone, although a number of other endogenous hormones (including progesterone and deoxycorticosterone) have mineralocorticoid function. Aldosterone acts on the kidneys to provide active reabsorption of sodium and an associated passive reabsorption of water, as well as the active secretion of potassium in the principal cells of the cortical collecting tubule and active secretion of protons via proton ATPases in the lumenal membrane of the intercalated cells of the collecting tubule. This in turn results in an i ...
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Electrolyte
An electrolyte is a substance that conducts electricity through the movement of ions, but not through the movement of electrons. This includes most soluble Salt (chemistry), salts, acids, and Base (chemistry), bases, dissolved in a polar solvent like water. Upon dissolving, the substance separates into cations and anions, which disperse uniformly throughout the solvent. Solid-state electrolytes also exist. In medicine and sometimes in chemistry, the term electrolyte refers to the substance that is dissolved. Electrically, such a solution is neutral. If an electric potential is applied to such a solution, the cations of the solution are drawn to the electrode that has an abundance of electrons, while the anions are drawn to the electrode that has a deficit of electrons. The movement of anions and cations in opposite directions within the solution amounts to a current. Some gases, such as hydrogen chloride (HCl), under conditions of high temperature or low pressure can also functi ...
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