NLK-NML/MeSH-CZ-2025-notes huggingface dataset:
Hyperlysinemias: a group of inherited metabolic disorders which have in common elevations of serum lysine levels. enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the saccharopine dehydrogenases have been associated with hyperlysinemia. clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (from menkes, textbook of child neurology, 5th ed, p56)
Hypermastigia: a class of endosymbiont eukaryotes, in the group parabasalidea, that are obligate mutualists in the digestive tracts of wood-eating insects. hypermastigotes produce cellulase that breaks down the cellulose in wood so that insects can metabolize it
Hypermastigia: třída endosymbiotických eukaryot skupiny parabasalidea. jsou to obligátní mutualisté v trávicím traktu dřevokazného hmyzu. produkují celulázu, která umožňuje hmyzu metabolizovat dřevo
Hypermedia: computerized compilations of information units (text, sound, graphics, and/or video) interconnected by logical nonlinear linkages that enable users to follow optimal paths through the material and also the systems used to create and display this information. (from thesaurus of eric descriptors, 1994)
Hypernatremia: excessive amount of sodium in the blood. (dorland, 27th ed)
Hyperopia: a refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. it is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (dorland, 27th ed)
Hyperostosis Cranialis Interna: progressive bone overgrowth can cause entrapment and dysfunction of cranial nerves i, ii, v, vii, and viii
Hyperostosis Frontalis Interna: thickening of the inner table of the frontal bone, which may be associated with hypertrichosis and obesity. it most commonly affects women near menopause
Hyperostosis corticalis deformans juvenilis: a juvenile-onset form of paget disease, a disorder of the skeleton resulting from abnormal bone resorption and formation. symptoms are variable and may appear in infancy or later childhood, they include short stature, progressive long bone deformities, fractures, vertebral collapse, enlarged skull, and hyperostosis; and sensorineural hearing loss. it is caused by mutations in the osteoprotegerin (tnfrsf11b) gene. omim: 239000
Hyperostosis, Cortical, Congenital: a disease of young infants characterized by soft tissue swellings over the affected bones, fever, and irritability, and marked by periods of remission and exacerbation. (dorland, 27th ed)
Hyperostosis, Diffuse Idiopathic Skeletal: a disease of elderly men characterized by large osteophytes that bridge vertebrae and ossification of ligaments and tendon insertions
Hyperostosis, Sternocostoclavicular: a rare, benign rheumatologic disorder or syndrome characterized by hyperostosis and soft tissue ossification between the clavicles and the anterior part of the upper ribs. it is often associated with the dermatologic disorder palmoplantar pustulosis, particularly in japan. careful diagnosis is required to distinguish it from psoriatic arthritis, osteitis deformans, and other diseases. spondylitis of pustulosis palmaris et plantaris is one of the possible causes; also, evidence suggests one origin may be bone infection. bone imaging is especially useful for diagnosis. it was originally described by sonozaki in 1974
Hyperotreti: a group of invertebrate chordates (chordata, nonvertebrate) in the subphylum craniota. they include the single order myxiniformes, which comprise various hagfishes
Hyperotreti: skupina nižších strunatců podkmene craniata. patří sem jediný řád myxiniformes (sliznatkotvaří) s čeledí myxinidae (sliznatkovití)
Hyperoxaluria: excretion of an excessive amount of oxalates in the urine
Hyperoxaluria, Primary: a genetic disorder characterized by excretion of large amounts of oxalates in urine; nephrolithiasis; nephrocalcinosis; early onset of renal failure; and often a generalized deposit of calcium oxalate. there are subtypes classified by the enzyme defects in glyoxylate metabolism
Hyperparathyroidism: a condition of abnormally elevated output of parathyroid hormone (or pth) triggering responses that increase blood calcium. it is characterized by hypercalcemia and bone resorption, eventually leading to bone diseases. primary hyperparathyroidism is caused by parathyroid hyperplasia or parathyroid neoplasms. secondary hyperparathyroidism is increased pth secretion in response to hypocalcemia, usually caused by chronic kidney diseases
Hyperparathyroidism 1: also known as hrpt1; associated with mutations in gene hrpt2 which codes for parafibromin
Hyperparathyroidism, Primary: a condition of abnormally elevated output of parathyroid hormone due to parathyroid hyperplasia or parathyroid neoplasms. it is characterized by the combination of hypercalcemia, phosphaturia, elevated renal 1,25-dihydroxyvitamin d3 synthesis, and increased bone resorption
Hyperparathyroidism, Secondary: abnormally elevated parathyroid hormone secretion as a response to hypocalcemia. it is caused by chronic kidney failure or other abnormalities in the controls of bone and mineral metabolism, leading to various bone diseases, such as renal osteodystrophy
Hyperphenylalaninemia, BH4-Deficient, B: mutation in gch1
Hyperphenylalaninemia, BH4-Deficient, Due To Partial PTS Deficiency: mutations in pts
Hyperphosphatemia: a condition of abnormally high level of phosphates in the blood, usually significantly above the normal range of 0.84-1.58 mmol per liter of serum
Hyperpigmentation: excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. hyperpigmentation can be localized or generalized. the condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance
Hyperpituitarism: disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. hyperpituitarism usually is caused by a functional adenoma
Hyperplasia: an increase in the number of cells in a tissue or organ without tumor formation. it differs from hypertrophy, which is an increase in bulk without an increase in the number of cells
Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels: a subgroup of cyclic nucleotide-regulated ion channels of the superfamily of pore-loop cation channels that are opened by hyperpolarization rather than depolarization. the ion conducting pore passes sodium, calcium, and potassium cations with a preference for potassium
Hyperprolactinemia: increased levels of prolactin in the blood, which may be associated with amenorrhea and galactorrhea. relatively common etiologies include prolactinoma, medication effect, kidney failure, granulomatous diseases of the pituitary gland, and disorders which interfere with the hypothalamic inhibition of prolactin release. ectopic (non-pituitary) production of prolactin may also occur. (from joynt, clinical neurology, 1992, ch36, pp77-8)
Hyperprolinemia type 2: a metabolic disorder caused by mutations in the 1-pyrroline-5-carboxylate dehydrogenase (p5cdh) gene. affected individuals experience seizures, intellectual disability, and have elevated levels of amino acids, including proline and glycine, in their urine. omim: 239510
Hyperprothrombinemia: increased prothrombin levels and risk of thrombosis due to a g20210a mutation in the prothrombin gene
Hypersensitivity: altered reactivity to an antigen, which can result in pathologic reactions upon subsequent exposure to that particular antigen
Hypersensitivity, Delayed: an increased reactivity to specific antigens mediated not by antibodies but by sensitized t cells
Hypersensitivity, Immediate: hypersensitivity reactions which occur within minutes of exposure to challenging antigen due to the release of histamine which follows the antigen-antibody reaction and causes smooth muscle contraction and increased vascular permeability
Hyperspectral Imaging: the use of spectrometry measurements (of radiance, reflectance, optical scattering, absorption, etc.) made for each point of an image, across the whole spectrum of a selected spectral range such as infrared, visual, ultraviolet, or x-rays. hyperspectral images are analyzed to determine the make up and location of specific chemical compounds in the objects being imaged
Hypersplenism: condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy
Hypertelorism: abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid
Hypertelorism with esophageal abnormality and hypospadias: a hereditary syndrome characterized by hypertelorism or telecanthus (increased distance between the inner corners of the eyes); laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females, intellectual disability, developmental delay, and congenital heart defects. it is caused by mutations in the specc1l gene. omim: 145410
Hypertension: persistently high systemic arterial blood pressure. based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm hg or when diastolic pressure is consistently 90 mm hg or more
Hypertension Resistant to Conventional Therapy: hypertension that is associated with a variation in the nos3 gene. individuals with variations in nos3 also are susceptible to coronary artery spasms. omim: 163729
Hypertension, Malignant: a condition of markedly elevated blood pressure with diastolic pressure usually greater than 120 mm hg. malignant hypertension is characterized by widespread vascular damage, papilledema, retinopathy, hypertensive encephalopathy, and renal dysfunction
Hypertension, Portal: abnormal increase of resistance to blood flow within the hepatic portal system, frequently seen in liver cirrhosis and conditions with obstruction of the portal vein
Hypertension, Pregnancy-Induced: a condition in pregnant people with elevated systolic (>140 mm hg) and diastolic (>90 mm hg) blood pressure on at least two occasions 6 h apart. hypertension complicates 8-10% of all pregnancies, generally after 20 weeks of gestation. gestational hypertension can be divided into several broad categories according to the complexity and associated symptoms, such as edema; proteinuria; seizures; abnormalities in blood coagulation and liver functions
Hypertension, Pulmonary: increased vascular resistance in the pulmonary circulation, usually secondary to heart diseases or lung diseases
Hypertension, Renal: persistent high blood pressure due to kidney diseases, such as those involving the renal parenchyma, the renal vasculature, or tumors that secrete renin
Hypertension, Renovascular: hypertension due to renal artery obstruction or compression
Hypertensive Crisis: a severe, acute increase in blood pressure that may result in stroke or myocardial ischemia
Hypertensive Encephalopathy: brain dysfunction or damage resulting from sustained malignant hypertension. when blood pressure exceeds the limits of cerebral autoregulation, cerebral blood flow is impaired (brain ischemia). clinical manifestations include headache; nausea; vomiting; seizures; altered mental status (in some cases progressing to coma); papilledema; and retinal hemorrhage
Hypertensive Nephropathy: a hereditary disorder reported in an african american family. nearly half of those affected had chronic kidney failure and hypertension. proteinuria and focal segmental glomerular sclerosis-like lesions (omim: 603278) with arteriole thickening were observed in one patient. has been mapped to chromosome 9. omim: 608026
Hypertensive Retinopathy: degenerative changes to the retina due to hypertension
Hyperthermia: an abnormal elevation of body temperature, usually as a result of inability to regulate core body temperature due to non-pathologic factors
Hyperthermia, Induced: abnormally high temperature intentionally induced in living things regionally or whole body. it is most often induced by radiation (heat waves, infra-red), ultrasound, or drugs
Hyperthermic Intraperitoneal Chemotherapy: a cancer treatment that involves filling the abdominal cavity with heated chemotherapy drugs. it is performed after the surgeon removes tumors or lesions from the abdominal area, to kill any cancer cells that remain after surgery and reduce the risk for cancer recurrence. (from: https://www.mdanderson.org/treatment-options/hyperthermic-intraperitoneal-chemotherapy.html; feb, 20, 2020)
Hyperthyroidism: hypersecretion of thyroid hormones from the thyroid gland. elevated levels of thyroid hormones increase basal metabolic rate
Hyperthyroidism, Familial Gestational: associated with mutation in tshr gene
Hyperthyroxinemia, Familial Dysalbuminemic: an inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (t4) in euthyroid patients with abnormal serum albumin that binds t4 with enhanced affinity. the serum levels of free t4, free t3, and tsh are normal. it is one of several t4 abnormalities produced by non-thyroid disorder. this condition is due to mutations of the alb gene on chromosome 4
Hypertonic Solutions: solutions that have a greater osmotic pressure than a reference solution such as blood, plasma, or interstitial fluid
Hypertrichosis: excessive hair growth at inappropriate locations, such as on the extremities, the head, and the back. it is caused by genetic or acquired factors, and is an androgen-independent process. this concept does not include hirsutism which is an androgen-dependent excess hair growth in women and children
Hypertriglyceridemia: a condition of elevated levels of triglycerides in the blood
Hypertriglyceridemic Waist: a screening phenotype consisting of both elevated waist circumference and elevated fasting triglycerides level
Hypertrophy: general increase in bulk of a part or organ due to cell enlargement and accumulation of fluids and secretions, not due to tumor formation, nor to an increase in the number of cells (hyperplasia)
Hypertrophy, Left Ventricular: enlargement of the left ventricle of the heart. this increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality
Hypertrophy, Right Ventricular: enlargement of the right ventricle of the heart. this increase in ventricular mass is often attributed to pulmonary hypertension and is a contributor to cardiovascular morbidity and mortality
Hyperuricemia: excessive uric acid or urate in blood as defined by its solubility in plasma at 37 degrees c; greater than 0.42mmol per liter (7.0mg/dl) in men or 0.36mmol per liter (6.0mg/dl) in women. this condition is caused by overproduction of uric acid or impaired renal clearance. hyperuricemia can be acquired, drug-induced or genetically determined (lesch-nyhan syndrome). it is associated with hypertension and gout
Hyperventilation: a pulmonary ventilation rate faster than is metabolically necessary for the exchange of gases. it is the result of an increased frequency of breathing, an increased tidal volume, or a combination of both. it causes an excess intake of oxygen and the blowing off of carbon dioxide
Hypervitaminosis A: a symptom complex resulting from ingesting excessive amounts of vitamin a
Hyphae: microscopic threadlike filaments in fungi that are filled with a layer of protoplasm. collectively, the hyphae make up the mycelium
Hyphomicrobiaceae: a family in the order rhizobiales, class alphaproteobacteria comprised of many genera of budding or appendaged bacteria
Hyphomicrobiaceae: čeleď bakterií řádu rhizobiales, třídy alphaproteobacteria, která zahrnuje mnoho rodů. vytváří hyfy nebo prostéky a řada druhů se reprodukuje pučením
Hyphomicrobium: a genus of rod-shaped, oval, or bean-shaped bacteria found in soil and fresh water. polar prosthecae are present and cells reproduce by budding at the tips of the prosthecae. cells of this genus are aerobic and grow best with one-carbon compounds. (from bergey's manual of determinative bacteriology, 9th ed)
Hyphomicrobium: rod aerobních, oligokarbofilních bakterií tyčkovitého či oválného tvaru nebo tvaru fazole. vyskytují se v půdě a ve sladkých vodách. mají polární prostéky a reprodukce probíhá pučením na jejich špičkách
Hypnosis: a state of increased receptivity to suggestion and direction, initially induced by the influence of another person or oneself
Hypnosis, Anesthetic: procedure in which an individual is induced into a trance-like state to relieve pain. this procedure is frequently performed with local but not general anesthesia
Hypnosis, Dental: process in which a patient is induced into a trance-like state in order to relieve anxiety during a dental procedure
Hypnotics and Sedatives: drugs used to induce drowsiness or sleep or to reduce psychological excitement or anxiety
Hypoadiponectinemia: low serum levels of adiponectin associated with variations in the adipoq gene. omim: 612556
Hypoadrenocorticism, Familial: genetic or familial occurrence of addisons disease characterized by insufficient production of cortisol, aldosterone, and/or other hormones made in the adrenal cortex
Hypoalbuminemia: a condition in which albumin level in blood (serum albumin) is below the normal range. hypoalbuminemia may be due to decreased hepatic albumin synthesis, increased albumin catabolism, altered albumin distribution, or albumin loss through the urine (albuminuria)
Hypoaldosteronism: a congenital or acquired condition of insufficient production of aldosterone by the adrenal cortex leading to diminished aldosterone-mediated synthesis of na(+)-k(+)-exchanging atpase in renal tubular cells. clinical symptoms include hyperkalemia, sodium-wasting, hypotension, and sometimes metabolic acidosis
Hypoalphalipoproteinemias: conditions with abnormally low levels of alpha-lipoproteins (high-density lipoproteins) in the blood. hypoalphalipoproteinemia can be associated with mutations in genes encoding apolipoprotein a-i; lecithin cholesterol acyltransferase; and atp-binding cassette transporters
Hypobetalipoproteinemia, Familial, Apolipoprotein B: an autosomal dominant disorder of lipid metabolism. it is caused by mutations of apolipoproteins b, main components of chylomicrons and beta-lipoproteins (low density lipoproteins or ldl). features include abnormally low ldl, normal triglyceride level, and dietary fat malabsorption
Hypobetalipoproteinemias: conditions with abnormally low levels of beta-lipoproteins (low density lipoproteins or ldl) in the blood. it is defined as ldl values equal to or less than the 5th percentile for the population. they include the autosomal dominant form involving mutation of the apolipoproteins b gene, and the autosomal recessive form involving mutation of the microsomal triglyceride transfer protein. all are characterized by low ldl and dietary fat malabsorption
Hypocalcemia: reduction of the blood calcium below normal. manifestations include hyperactive deep tendon reflexes, chvostek's sign, muscle and abdominal cramps, and carpopedal spasm. (dorland, 27th ed)
Hypocapnia: clinical manifestation consisting of a deficiency of carbon dioxide in arterial blood
Hypochlorous Acid: an oxyacid of chlorine (hclo) containing monovalent chlorine that acts as an oxidizing or reducing agent
Hypochondriasis: preoccupation with the fear of having, or the idea that one has, a serious disease based on the person's misinterpretation of bodily symptoms. (apa, dsm-iv)
Hypochondroplasia: a hereditary autosomal dominant disorder characterized by short-limbed dwarfism, lumbar lordosis, short and broad bones, and caudad narrowing of the interpediculate distance of the lumbar spine. it resembles achondroplasia, but is much milder and can be distinguished clinically and radiographically. mutations in the fgfr3 gene have been identified. omim: 146000
Hypocotyl: the region of the stem beneath the stalks of the seed leaves (cotyledons) and directly above the young root of the embryo plant. it grows rapidly in seedlings showing epigeal germination and lifts the cotyledons above the soil surface. in this region (the transition zone) the arrangement of vascular bundles in the root changes to that of the stem. (from concise dictionary of biology, 1990)
Hypocrea: a genus of fungus in the family hypocreaceae, order hypocreales. anamorphs include trichoderma
Hypocrea: rod vřeckovýtrusných hub čeledi hypocreaceae, řádu hypocreales. anamorfní stadia patří do rodu trichoderma
Hypocreales: an order of fungi in the phylum ascomycota that includes a number of species which are parasitic on higher plants, insects, or fungi. other species are saprotrophic
Hypocreales: řád vřeckovýtrusných hub. mnoho druhů parazituje na vyšších rostlinách, hmyzu nebo houbách. další druhy jsou saprofytické
Hypodermoclysis: technique for treating dehydration and water-electrolyte imbalance by subcutaneous infusion of rehydration solutions
Hypodermyiasis: infestation with larvae of the genus hypoderma, the warble fly
Hypogammaglobulinemia, X-Linked: mutation in bruton tyrosine kinase
Hypogastric Plexus: a complex network of nerve fibers in the pelvic region. the hypogastric plexus distributes sympathetic fibers from the lumbar paravertebral ganglia and the aortic plexus, parasympathetic fibers from the pelvic nerve, and visceral afferents. the bilateral pelvic plexus is in its lateral extent
Hypoglossal Nerve: the 12th cranial nerve. the hypoglossal nerve originates in the hypoglossal nucleus of the medulla and supplies motor innervation to all of the muscles of the tongue except the palatoglossus (which is supplied by the vagus). this nerve also contains proprioceptive afferents from the tongue muscles
Hypoglossal Nerve Diseases: diseases of the twelfth cranial (hypoglossal) nerve or nuclei. the nuclei and fascicles of the nerve are located in the medulla, and the nerve exits the skull via the hypoglossal foramen and innervates the muscles of the tongue. lower brain stem diseases, including ischemia and motor neuron diseases may affect the nuclei or nerve fascicles. the nerve may also be injured by diseases of the posterior fossa or skull base. clinical manifestations include unilateral weakness of tongue musculature and lingual dysarthria, with deviation of the tongue towards the side of weakness upon attempted protrusion
Hypoglycemia: a syndrome of abnormally low blood glucose level. clinical hypoglycemia has diverse etiologies. severe hypoglycemia eventually lead to glucose deprivation of the central nervous system resulting in hunger; sweating; paresthesia; impaired mental function; seizures; coma; and even death
Hypoglycins: methylene cyclopropyl alanine and congeners isolated from the unripe edible fruit of the akee plant (blighia sapida). hypoglycin b is the gamma-glutamyl congener of hypoglycin a. they are very toxic and teratogenic, causing a syndrome called jamaican vomiting sickness that includes a fall in blood glucose due to the interference of fatty acids and leucine metabolism which leads to vomiting, liver damage, convulsions and death
Hypogonadism: condition resulting from deficient gonadal functions, such as gametogenesis and the production of gonadal steroid hormones. it is characterized by delay in growth, germ cell maturation, and development of secondary sex characteristics. hypogonadism can be due to a deficiency of gonadotropins (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism)
Hypogravity: condition wherein the force of gravity is less than or is decreased below that on the surface of the earth. this is expressed as being between 0 and 1 g
Hypohidrosis: abnormally diminished or absent perspiration. both generalized and segmented (reduced or absent sweating in circumscribed locations) forms of the disease are usually associated with other underlying conditions
Hypokalemia: abnormally low potassium concentration in the blood. it may result from potassium loss by renal secretion or by the gastrointestinal route, as by vomiting or diarrhea. it may be manifested clinically by neuromuscular disorders ranging from weakness to paralysis, by electrocardiographic abnormalities (depression of the t wave and elevation of the u wave), by renal disease, and by gastrointestinal disorders. (dorland, 27th ed)
Hypokalemic Periodic Paralysis: an autosomal dominant familial disorder characterized by recurrent episodes of skeletal muscle weakness associated with falls in serum potassium levels. the condition usually presents in the first or second decade of life with attacks of trunk and leg paresis during sleep or shortly after awakening. symptoms may persist for hours to days and generally are precipitated by exercise or a meal high in carbohydrates. (adams et al., principles of neurology, 6th ed, p1483)
Hypokalemic Periodic Paralysis, Type 2: mutation in scn4a
Hypokinesia: slow or diminished movement of body musculature. it may be associated with basal ganglia diseases; mental disorders; prolonged inactivity due to illness; and other conditions
Hypolipidemic Agents: substances that lower the levels of certain lipids in the blood. they are used to treat hyperlipidemias
Hypolipoproteinemias: conditions with abnormally low levels of lipoproteins in the blood. this may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins)
Hypomagnesemia 1, Intestinal: a rare autosomal recessive disorder characterized by very low serum magnesium levels. hypocalcemia is a secondary consequence of parathyroid glands failure and parathyroid hormone resistance as a result of severe magnesium deficiency. the disease typically manifests during the first months of life with generalized convulsions or signs of increased neuromuscular excitability, such as muscle spasms or tetany. untreated, the disease may be fatal or lead to severe neurologic damage. mutations in the trpm6 gene have been identified. omim: 602014
Hypomagnesemia primary: a progressive renal disorder characterized by excessive urinary ca(2+) and mg(2+) excretion. there is progressive loss of kidney function, and in about 50% of cases, the need for renal replacement therapy by the second decade of life. germline mutations in the cldn16 gene have been identified. omim: 603959
Hyponatremia: deficiency of sodium in the blood; salt depletion. (dorland, 27th ed)
Hypoparathyroidism: a condition caused by a deficiency of parathyroid hormone (or pth). it is characterized by hypocalcemia and hyperphosphatemia. hypocalcemia leads to tetany. the acquired form is due to removal or injuries to the parathyroid glands. the congenital form is due to mutations of genes, such as tbx1; (see digeorge syndrome); casr encoding calcium-sensing receptor; or pth encoding parathyroid hormone
Hypoparathyroidism-retardation-dysmorphism syndrome: hypoparathyroidism short stature mental retardation seizures retardation, and developmental delay
Hypopharyngeal Neoplasms: tumors or cancer of the hypopharynx
Hypopharynx: the bottom portion of the pharynx situated below the oropharynx and posterior to the larynx. the hypopharynx communicates with the larynx through the laryngeal inlet, and is also called laryngopharynx
Hypophosphatasia: a genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. clinical manifestations include severe skeletal defects resembling vitamin d-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (from dorland, 27th ed)
Hypophosphatasia, Perinatal Lethal: mutation in tissue-nonspecific alkaline phosphatase
Hypophosphatemia: a condition of an abnormally low level of phosphates in the blood
Hypophosphatemia, Familial: an inherited condition of abnormally low serum levels of phosphates (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the proximal renal tubules. this leads to phosphaturia, hypophosphatemia, and disturbances of cellular and organ functions such as those in x-linked hypophosphatemic rickets; osteomalacia; and fanconi syndrome
Hypophosphatemic Rickets, Autosomal Dominant: mutation in fgf23
Hypophosphatemic Rickets, Autosomal Recessive, 2: mutations in enpp1
Hypophysectomy: surgical removal or destruction of the hypophysis, or pituitary gland. (dorland, 28th ed)
Hypophysectomy, Chemical: total or subtotal destruction of the pituitary gland by chemical injection. it is usually achieved by injection of ethyl alcohol via trans-sphenoidal cannulation under stereotaxic control. it is usually performed for the treatment of intractable pain
Hypopigmentation: a condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections
Hypopituitarism: diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including lh; follicle stimulating hormone; somatotropin; and corticotropin). this may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions
Hypoplastic Left Heart Syndrome: a condition caused by underdevelopment of the whole left half of the heart. it is characterized by hypoplasia of the left cardiac chambers (heart atrium; heart ventricle), the aorta, the aortic valve, and the mitral valve. severe symptoms appear in early infancy when ductus arteriosus closes
Hypoproteinemia: a condition in which total serum protein level is below the normal range. hypoproteinemia can be caused by protein malabsorption in the gastrointestinal tract, edema, or proteinuria
Hypoprothrombinemias: absence or reduced levels of prothrombin in the blood
Hypospadias: a birth defect due to malformation of the urethra in which the urethral opening is below its normal location. in the male, the malformed urethra generally opens on the ventral surface of the penis or on the perineum. in the female, the malformed urethral opening is in the vagina
Hypospadias 2, X-Linked: mutations in mamld1; aka hysp2
Hypotension: abnormally low blood pressure that can result in inadequate blood flow to the brain and other vital organs. common symptom is dizziness but greater negative impacts on the body occur when there is prolonged depravation of oxygen and nutrients
Hypotension, Controlled: procedure in which arterial blood pressure is intentionally reduced in order to control blood loss during surgery. this procedure is performed either pharmacologically or by pre-surgical removal of blood
Hypotension, Orthostatic: a significant drop in blood pressure after assuming a standing position. orthostatic hypotension is a finding, and defined as a 20-mm hg decrease in systolic pressure or a 10-mm hg decrease in diastolic pressure 3 minutes after the person has risen from supine to standing. symptoms generally include dizziness, blurred vision, and syncope
Hypothalamic Area, Lateral: area in the hypothalamus bounded medially by the mammillothalamic tract and the anterior column of the fornix (brain). the medial edge of the internal capsule and the subthalamic region form its lateral boundary. it contains the lateral hypothalamic nucleus, tuberomammillary nucleus, lateral tuberal nuclei, and fibers of the medial forebrain bundle
Hypothalamic Diseases: neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders
Hypothalamic Hormones: peptide hormones produced by neurons of various regions in the hypothalamus. they are released into the pituitary portal circulation to stimulate or inhibit pituitary gland functions. vasopressin and oxytocin, though produced in the hypothalamus, are not included here for they are transported down the axons to the posterior lobe of pituitary before being released into the portal circulation
Hypothalamic Neoplasms: benign and malignant tumors of the hypothalamus. pilocytic astrocytomas and hamartomas are relatively frequent histologic types. neoplasms of the hypothalamus frequently originate from adjacent structures, including the optic chiasm, optic nerve (see optic nerve neoplasms), and pituitary gland (see pituitary neoplasms). relatively frequent clinical manifestations include visual loss, developmental delay, macrocephaly, and precocious puberty. (from devita et al., cancer: principles and practice of oncology, 5th ed, p2051)
Hypothalamic hamartomas: hamartomas that occur in the hypothalamus. hypothalamic hamartoma syndrome is a congenital disorder that results in various growth and neurologic abnormalities and is usually lethal within the first month after birth. chromosomal abnormalities involving the gli3 gene have been identified. omim: 241800
Hypothalamic-Pituitary-Gonadal Axis: a collection of neurons, tracts of nerve fibers, endocrine tissue, and blood vessels in the hypothalamus, the pituitary gland and the gonads. it plays a central role in endocrine regulation of gonadal function including release of hormones: gnrh; luteinizing hormone; follicle-stimulating hormone and testosterone
Hypothalamo-Hypophyseal System: a collection of neurons, tracts of nerve fibers, endocrine tissue, and blood vessels in the hypothalamus and the pituitary gland. this hypothalamo-hypophyseal portal circulation provides the mechanism for hypothalamic neuroendocrine (hypothalamic hormones) regulation of pituitary function and the release of various pituitary hormones into the systemic circulation to maintain homeostasis
Hypothalamus: ventral part of the diencephalon extending from the region of the optic chiasm to the caudal border of the mammillary bodies and forming the inferior and lateral walls of the third ventricle
Hypothalamus, Anterior: the front portion of the hypothalamus separated into the preoptic region and the supraoptic region. the preoptic region is made up of the periventricular gray matter of the rostral portion of the third ventricle and contains the preoptic ventricular nucleus and the medial preoptic nucleus. the supraoptic region contains the paraventricular hypothalamic nucleus, the supraoptic nucleus, the anterior hypothalamic nucleus, and the suprachiasmatic nucleus
Hypothalamus, Middle: middle portion of the hypothalamus containing the arcuate, dorsomedial, ventromedial nuclei, the tuber cinereum and the pituitary gland
Hypothalamus, Posterior: the part of the hypothalamus posterior to the middle region consisting of several nuclei including the medial maxillary nucleus, lateral mammillary nucleus, and posterior hypothalamic nucleus (posterior hypothalamic area). the posterior hypothalamic area is concerned with control of sympathetic responses and is sensitive to conditions of decreasing temperature and controls the mechanisms for the conservation and increased production of heat
Hypothermia, Induced: abnormally low body temperature that is intentionally induced in warm-blooded animals by artificial means. in humans, mild or moderate hypothermia has been used to reduce tissue damages, particularly after cardiac or spinal cord injuries and during subsequent surgeries
Hypothyroidism: a syndrome that results from abnormally low secretion of thyroid hormones from the thyroid gland, leading to a decrease in basal metabolic rate. in its most severe form, there is accumulation of mucopolysaccharides in the skin and edema, known as myxedema. it may be primary or secondary due to other pituitary disease, or hypothalamic dysfunction
Hypothyroidism, Autoimmune: thyroiditis that occurs in hashimoto disease and is characterized by hashimoto struma, thyroid autoantibodies, an abnormal small iodinated protein in patient's serum, and a thyroid basement membrane defect. omim: 140300
Hypothyroidism, Congenital, Nongoitrous, 1: also known as chng 1; associated with mutations oitshr
Hypothyroidism, Congenital, Nongoitrous, 2: also known as chng2; associated with mutatins in pax8
Hypothyroidism, Congenital, Nongoitrous, 5: also known as chng5
Hypotonic Solutions: solutions that have a lesser osmotic pressure than a reference solution such as blood, plasma, or interstitial fluid
Hypotrichida: an order of ciliate protozoa. characteristics include a dorsoventrally flattened, highly mobile body with a unique cursorial type of locomotion
Hypotrichida: řád nálevníků, který je charakterizovaný dorzoventrálně zploštělým, vysoce pohyblivým tělem se specifickým typem lokomoce
Hypotrichosis: presence of less than the normal amount of hair. (dorland, 27th ed)
Hypotrichosis, Localized, Autosomal Recessive 1: mutation in desmoglein-4
Hypotrichosis-Lymphedema-Telangiectasia Syndrome: mutation in sox18
Hypoventilation: a reduction in the amount of air entering the pulmonary alveoli
Hypovolemia: an abnormally low volume of blood circulating through the body. it may result in hypovolemic shock (see shock)
Hypoxanthine: a purine and a reaction intermediate in the metabolism of adenosine and in the formation of nucleic acids by the salvage pathway
Hypoxanthine Phosphoribosyltransferase: an enzyme that catalyzes the conversion of 5-phosphoribosyl-1-pyrophosphate and hypoxanthine, guanine, or mercaptopurine to the corresponding 5'-mononucleotides and pyrophosphate. the enzyme is important in purine biosynthesis as well as central nervous system functions. complete lack of enzyme activity is associated with the lesch-nyhan syndrome, while partial deficiency results in overproduction of uric acid. ec 2.4.2.8
Hypoxanthines: purine bases related to hypoxanthine, an intermediate product of uric acid synthesis and a breakdown product of adenine catabolism
Hypoxia, Brain: a reduction in brain oxygen supply due to anoxemia (a reduced amount of oxygen being carried in the blood by hemoglobin), or to a restriction of the blood supply to the brain, or both. severe hypoxia is referred to as anoxia and is a relatively common cause of injury to the central nervous system. prolonged brain anoxia may lead to brain death or a persistent vegetative state. histologically, this condition is characterized by neuronal loss which is most prominent in the hippocampus; globus pallidus; cerebellum; and inferior olives
Hypoxia-Inducible Factor 1: a basic helix-loop-helix transcription factor that plays a role in apoptosis. it is composed of two subunits: aryl hydrocarbon receptor nuclear translocator and hypoxia-inducible factor 1, alpha subunit
Hypoxia-Inducible Factor 1, alpha Subunit: hypoxia-inducible factor 1, alpha subunit is a basic helix-loop-helix transcription factor that is regulated by oxygen availability and is targeted for degradation by vhl tumor suppressor protein
Hypoxia-Inducible Factor-Proline Dioxygenases: dioxygenase enzymes that specifically hydroxylate a proline residue on the hypoxia-inducible factor 1, alpha subunit. they are oxygen-dependent enzymes that play an important role in mediating cellular adaptive responses to hypoxia
Hypoxia-Ischemia, Brain: a disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ischemia) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. prolonged hypoxia-ischemia is associated with ischemic attack, transient; brain infarction; brain edema; coma; and other conditions
Hypoxidaceae: a family of perennial herbaceous plants, in the order asparagales, with the underground storage organs, rhizomes or corms
Hypoxidaceae: čeleď víceletých bylin z řádu asparagales (chřestotvaré). mají podzemní zásobní orgány - oddenky nebo oddenkové hlízy
Hypoxis: hypoxis is a plant genus in the family hypoxidaceae (sometimes classified as liliaceae)
Hypromellose Derivatives: polymeric compounds that contain repeating units of hydroxypropyl methylcellulose. the properties of hypromellose polymers can vary greatly and are defined by their molecular weight, the percentage of hydroxyl groups, the percentage of hydroxypropyl groups, and viscosity measurements. they are found a broad variety of commercial products such as food additives; excipients; and lubricants
Hyptis: a plant genus of the family lamiaceae that contains 5-methoxydehydropodophyllotoxin (a podophyllotoxin) and other lignans
Hyptis: rod rostlin z čeledi lamiaceae - hluchavkovité, který obsahuje 5-methoxydehydropodofylotoxin a další lignany
Hyraxes: any of certain small hoofed mammals of the order hyracoidea native to africa and southwestern asia
Hyssopus Plant: a genus in the mint family (lamiaceae). members contain thujone and phenol. distinguished from agastache (giant hyssop) and bacopa (water hyssop). also distinguished from the genus of wasps with the same genus name hyssopus
Hysteria: historical term for a chronic, but fluctuating, disorder beginning in early life and characterized by recurrent and multiple somatic complaints not apparently due to physical illness. this diagnosis is not used in contemporary practice
Hysterosalpingography: radiography of the uterus and fallopian tubes after the injection of a contrast medium
Hysteroscopy: endoscopic examination, therapy or surgery of the interior of the uterus
Hysterotomy: an incision in the uterus, performed through either the abdomen or the vagina
I Blood-Group System: a blood group related both to the abo and p systems that includes several different antigens found in most people on erythrocytes, in milk, and in saliva. the antibodies react only at low temperatures
I-kappa B Kinase: a protein serine-threonine kinase that catalyzes the phosphorylation of i kappa b proteins. this enzyme also activates the transcription factor nf-kappa b and is composed of alpha and beta catalytic subunits, which are protein kinases and gamma, a regulatory subunit
I-kappa B Proteins: a family of inhibitory proteins which bind to the rel proto-oncogene proteins and modulate their activity. in the cytoplasm, i-kappa b proteins bind to the transcription factor nf-kappa b. cell stimulation causes its dissociation and translocation of active nf-kappa b to the nucleus
I. fáze biotransformace: funkcionalizace exogenních látek, které jsou tím připravené na konjugaci ve druhé fázi detoxikace. fáze i se účastní enzymy cytochromu p450 a některé oxidoreduktázy. nadbytečná indukce první fáze vede k vyšší hladině volných radikálů s rizikem vzniku rakoviny a jiného poškození buněk. indukce nebo inhibice první fáze detoxikace je základem řady lékových interakcí
IAP protocol: chemotherapy protocol consisting of the above cpds; used in treatment of gynecological adenocarcinoma & childhood hepatoblastoma
ICBV regimen: chemotherapy protocol consisting of above compounds; used in the treatment of multiple myeloma
ICE protocol 1: chemotherapy protocol consisting of the above cpds; used in the treatment of testicular cancer
ICE protocol 2: chemotherapy protocol consisting of above compounds; used in treatment of non-hodgkin's lymphoma
ICE protocol 3: chemotherapy regimen consisting of above cpds; used to treat children with relapsed solid tumors
ICE protocol 4: chemotherapy protocol consisting of the above compounds; for treatment of chronic myelogenous leukemia; indexers: has been called ice protocol, but is not identical to our record of that name; do not confuse with miniice
ICE protocol 5: a chemotherapy regimen consisting of the above compounds (ice regimen + mesna); do not confuse with ice protocol or ice combination
ICE protocol 6: chemotherapy protocol consisting of above compounds; used for the treatment of small-cell lung cancer
ICI Resin FS3798: ici experimental light cured resin; used as pit sealant; contains urethane dimethacrylate dissolved in triethylene glycol dimethacrylate
IE protocol: chemotherapy protocol consisting of the above cpds; used in treatment of small-cell lung cancer
IEV protocol: chemotherapy protocol consisting of above compounds; used in the treatment of relapsed & refractory high-grade non-hodgkin's lymphoma & hodgkin's disease
IEVM protocol: chemotherapy protocol consisting of above four compounds for treating aggressive non-hodgkin's lymphomas
IFIH1: rna-helikáza z rodiny dead box, která obsahuje dva n-koncové kaspázové aktivační domény. funguje jako senzor virových nukleových kyselin, jako je dvoušroubovice rna, a indukcí exprese interferonu-alfa a interferonu-beta aktivuje vrozenou imunitní reakci. může také regulovat buněčný růst a apoptózu
IFL protocol: chemotherapy protocol consisting of leucovorin, fluorouracil, and irinotecan for treatment of colorectal cancer
II. fáze biotransformace: konjugace exogenních látek s různými hydrofilními substituenty za vzniku produktů rozpustných ve vodě, které je možné vyloučit z organismu prostřednictvím ledvin. modifikace ii. fáze zahrnují konjugaci s glutathionem, acylaci a aminaci. těchto reakcí se účastní enzymy glutathiontransferáza a glukuronyltransferáza. substrátem jsou většinou reakční produkty fáze i
IIS-PAA: a water-soluble, acidic, hydrophilic polymer that is active at ph 2.9-4.0
IIVP-16: chemotherapy protocol consisting of above compounds; used in the treatment of non-hodgkin's lymphoma
IMAP protocol: a chemotherapy protocol consisting of the above compounds; used in the treatment of primary extremity soft tissue sarcomas
IMEP protocol: chemotherapy protocol consisting of the above cpds; used in treatment of advanced hodgkin's disease
IMP Dehydrogenase: an enzyme that catalyzes the dehydrogenation of inosine 5'-phosphate to xanthosine 5'-phosphate in the presence of nad. ec 1.1.1.205
IMP-dehydrogenasa: enzym, který za přítomnosti nad katalyzuje dehydrogenaci inosin-5'-fosfátu na xantosin-5'-fosfát. ec 1.1.1.205
INDEL Mutation: a mutation named with the blend of insertion and deletion. it refers to a length difference between two alleles where it is unknowable if the difference was originally caused by a sequence insertion or by a sequence deletion. if the number of nucleotides in the insertion/deletion is not divisible by three, and it occurs in a protein coding region, it is also a frameshift mutation
INNA-051: pegylated synthetic analogue of the diacylated lipopeptide s-[2,3-bis(palmitoyl oxy)propyl] cysteine (pam2cys), that is a toll like receptor (tlr) 2/6 agonist
INR: systém zavedený světovou zdravotnickou organizací a mezinárodní společností pro trombózu a hemostázu pro účely monitorování a zpracovávání testů na krevní srážlivost. tento systém standardizuje výsledky za pomoci mezinárodního indexu citlivosti, s přihlédnutím k použité kombinaci činitele/nástroje u každého testu
IP 758: synthetic skin for wound closure; silicone rubber membrane laminated to medical grade nylon looped velour
IPS-Empress ceramic: a fine-grained, high-strength, pressed glass ceramic; also referred to as leucite-reinforced ceramic & leucite-nucleated glass
IRES: sekvence v mrna, které umožňují iniciaci translace peptidového řetězce nezávisle na 5' čepičce molekuly rna
IRM cement: zinc oxide-eugenol cement strengthened with polymethyl methacrylate
IROX protocol: chemotherapy protocol consisting of irinotecan and oxaliplatin for treatment of colorectal cancer
ISCOMs: a formulation for presenting an antigen to induce specific immunologic responses. it consists of an assembly of antigens in multimeric form. the assembly is attached to a matrix with a built-in adjuvant, saponin. iscoms induce strong serum antibody responses, and are used as highly immunogenic forms of subunit vaccines