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syndrom fragilního X

A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)
MSH

X-linked recessive disorder characterized by mental retardation and large head, jaw, ears, and testes; premutation alleles in unaffected carriers give rise to significantly amplified repeats in affected progeny.
CSP

Fragile X syndrome is the most common form of inherited mental retardation. A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the mutation causes a person to make little or none of the protein, which results in the symptoms of Fragile X.

People with only a small change in the gene might not show any signs of Fragile X. People with bigger changes can have severe symptoms. These might include

  • Intelligence problems, ranging from learning disabilities to severe mental retardation
  • Social and emotional problems, such as aggression in boys or shyness in girls
  • Speech and language problems, especially in boys

Fragile X has no cure. You can treat some symptoms with educational, behavioral or physical therapy, and with medicines. Getting treatment early for Fragile X can help.

NIH: National Institute of Child Health and Human Development


MEDLINEPLUS

A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.
NCI

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kyselina argininjantarová

This amino acid is formed during the urea cycle from citrulline, aspartate and ATP. This reaction is catalyzed by argininosuccinic acid synthetase.
MSH

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společnosti vědecké

Societies whose membership is limited to scientists.
MSH

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lokální počítačové sítě

Communications networks connecting various hardware devices together within or between buildings by means of a continuous cable or voice data telephone system.
MSH

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demekolcin

An alkaloid isolated from Colchicum autumnale L. and used as an antineoplastic.
MSH

A colchicine analog with potential antimitotic and antineoplastic activities. Demecolcine acid binds to the colchicine-binding site of tubulin, inhibiting its polymerization into microtubules, causing cell cycle arrest at metaphase and preventing cell division.
NCI

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patenty

Works consisting of documents granted by a government giving exclusive rights to an inventor or assignee to manufacture, use, or sell an invention for a certain number of years.
MSH

Price: $1.00

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fruktokinasy

A class of enzymes that catalyzes the phosphorylation of fructose in the presence of ATP. EC 2.7.1.-.
MSH

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arteriografie

A procedure to x-ray arteries. The arteries can be seen because of an injection of a dye that outlines the vessels on an x-ray.
NCI

The X-ray examination of the arterial blood vessels.
NCI

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sodík – radioisotopy

Unstable isotopes of sodium that decay or disintegrate emitting radiation. Na atoms with atomic weights 20-22 and 24-26 are radioactive sodium isotopes.
MSH

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Krvácení v dolní části zažívacího traktu

Bleeding from the lower gastrointestinal tract (small intestine, large intestine, and anus).
NCI

A disorder characterized by bleeding from the lower gastrointestinal tract (small intestine, large intestine, and anus).
NCI

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zubní kavita – preparace

An operation in which carious material is removed from teeth and biomechanically correct forms are established in the teeth to receive and retain restorations. A constant requirement is provision for prevention of failure of the restoration through recurrence of decay or inadequate resistance to applied stresses. (Boucher`s Clinical Dental Terminology, 4th ed, p239-40)
MSH

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pacienti

Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures.
MSH

Person under a physician`s care for a particular disease or condition. NOTE: A subject in a clinical trial is not necessarily a patient, but a patient in a clinical trial is a subject. See also subject, trial subject, healthy volunteer. Often used interchangeably as a synonym for subject but healthy volunteers are not, strictly speaking, patients.
NCI

A patient is the subject of observations.
NCI

A person who receives medical attention, care, or treatment, or who is registered with medical professional or institution with the purpose to receive medical care when necessary.
NCI

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furagin

Nitrofuran derivative anti-infective agent used for urinary tract infections.
MSH

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arylsulfonany

Organic sulfonic acid esters or salts which contain an aromatic hydrocarbon radical.
MSH

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růstový hormon

A polypeptide that is secreted by the adenohypophysis (PITUITARY GLAND, ANTERIOR). Growth hormone, also known as somatotropin, stimulates mitosis, cell differentiation and cell growth. Species-specific growth hormones have been synthesized.
MSH

polypeptide that is secreted by the anterior pituitary gland; affects protein, carbohydrate and lipid metabolism; stimulates mitosis, cell differentiation and cell growth.
CSP

A protein made by the pituitary gland that helps control body growth and the use of glucose and fat in the body.
NCI

A peptide hormone secreted by the anterior lobe of the pituitary gland and regulates several physiologic processes, including growth and metabolism.
NCI

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lupus erythematosus kožní

A form of lupus erythematosus in which the skin may be the only organ involved or in which skin involvement precedes the spread into other body systems. It has been classified into three forms – acute (= LUPUS ERYTHEMATOSUS, SYSTEMIC with skin lesions), subacute, and chronic (= LUPUS ERYTHEMATOSUS, DISCOID).
MSH

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zubní plak

A film that attaches to teeth, often causing DENTAL CARIES and GINGIVITIS. It is composed of MUCINS, secreted from salivary glands, and microorganisms.
MSH

film that attaches to teeth, often causing dental caries and gingivitis; composed of mucins, secreted from salivary glands, and microorganisms.
CSP

A biofilm that contains numerous microorganisms that adheres to the teeth.
NCI

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pánev – nádory

Tumors or cancer of the pelvic region.
MSH

new abnormal tissue of the pelvic region that grows by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease.
CSP

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galaktosamin

amino sugar derivative of galactose, substituted at the 2 position; occurs in a variety of glycosaminoglycans and complex polysaccharides, such as blood group substances, and is generally acetylated.
CSP

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aspartátová amoniaklyasa

An enzyme that catalyzes the conversion of aspartic acid to ammonia and fumaric acid in plants and some microorganisms. EC 4.3.1.1.
MSH

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spasmolytika

agent that relieves spasm, usually of smooth muscles as in arteries, bronchi, intestine, bile duct, or ureters, but also of voluntary muscle.
CSP

Any agent that prevents or relieves muscle spasms, mainly ones originating from smooth muscle contractions of the stomach, bladder and intestines.
NCI

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lymfatické metastázy

Transfer of a neoplasm from its primary site to lymph nodes or to distant parts of the body by way of the lymphatic system.
MSH

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dentin sekundární

Dentin formed by normal pulp after completion of root end formation.
MSH

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pentachlorfenol

An insecticide and herbicide that has also been used as a wood preservative. Pentachlorphenol is a widespread environmental pollutant. Both chronic and acute pentachlorophenol poisoning are medical concerns. The range of its biological actions is still being actively explored, but it is clearly a potent enzyme inhibitor and has been used as such as an experimental tool.
MSH

a kind of insecticide and herbicide
CHV

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gama paprsky

Penetrating, high-energy electromagnetic radiation emitted from atomic nuclei during NUCLEAR DECAY. The range of wavelengths of emitted radiation is between 0.1 – 100 pm which overlaps the shorter, more energetic hard X-RAYS wavelengths. The distinction between gamma rays and X-rays is based on their radiation source.
MSH

high energy photons emitted during nuclear reactions; major emission of 125-iodine and other radioisotopes useful in biochemistry because of their ease of scintillation counting.
CSP

High-energy, short wavelength, ionizing electromagnetic radiation emitted from the nucleus. Gamma radiation frequently accompanies alpha and beta emissions and always accompanies fission. Gamma rays are very penetrating and are best stopped or shielded by dense materials, such as lead or depleted uranium. Gamma rays are identical to x-rays and are only differentiated by their origin. (from NRC Glossary)
NCI

A type of high-energy radiation that is different from an x-ray.
NCI

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astigmatismus

Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed)
MSH

optical defect in which refractive power is not uniform in all directions (meridians); light rays entering the eye are bent unequally by different meridians, which prevents formation of a sharp image focus on the retina.
CSP

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řeč – diskriminační testy

Tests of the ability to hear and understand speech as determined by scoring the number of words in a word list repeated correctly.
MSH

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Lysis

Tissue structure disintegration and destruction due to action of endogenous or/and exogenous lytic substances which include but not limited to naturally occuring or laboratory designed proteolytic enzymes, glycosidases, detergents, pore-forming proteins, immune complexes, etc. Tissue lysis plays role in pathogenesis of a number of conditions e.g. protozoal infections, ischemic tissue injury, and autoimmune disorders. It is also used as a basis for non-surgical treatment modality to remove or minimize presence of abnormal tissue, e.g. adhesions.
NCI

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deoxycytidin

nucleoside component of DNA; composed of cytosine and deoxyribose.
CSP

A drug that protects healthy tissues from the toxic effects of anticancer drugs.
NCI

a drug that protects healthy cells from the toxic effects of anticancer drugs
CHV

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peptidy – mapování

Analysis of PEPTIDES that are generated from the digestion or fragmentation of a protein or mixture of PROTEINS, by ELECTROPHORESIS; CHROMATOGRAPHY; or MASS SPECTROMETRY. The resulting peptide fingerprints are analyzed for a variety of purposes including the identification of the proteins in a sample, GENETIC POLYMORPHISMS, patterns of gene expression, and patterns diagnostic for diseases.
MSH

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