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chromozómy lidské, pár 13

A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
MSH

The designation for each member of the thirteenth largest human autosomal chromosome pair. Chromosome 13 spans about 113 million base pairs and represents between 3.5 and 4% of the total DNA in normal diploid cells.
NCI

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Rubinsteinův-Taybiův syndrom

A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
MSH

A rare genetic syndrome mapped to chromosome 16p13.3 and associated with mutations in the CREBBP gene. It is characterized by mental and growth retardation, distinctive facial features (prominent nose, low-set ears, microcephaly, and small mouth), and broad thumbs and great toes. Patients are at an increased risk of developing benign and malignant neoplasms, including nervous system neoplasms and malignant lymphoproliferative disorders.
NCI

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Octodon

A genus of diurnal rats in the family Octodonidae, found in South America. The species Octodon degus is frequently used for research.
MSH

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novorozenci – screening

The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.
MSH

Newborn screening tests take place before your newborn leaves the hospital. Babies are tested to identify serious or life-threatening conditions before symptoms begin. Such diseases are usually rare. However, they can affect a baby`s normal physical and mental development.

Most tests use a few drops of blood from pricking the baby`s heel. A hearing test involves placing a tiny earphone in the baby`s ear and measuring his or her response to sound.

If a screening test suggests a problem, your baby`s doctor will follow up with further testing. If those tests confirm a problem, the doctor may refer you to a specialist for treatment. Following your doctor`s treatment plan can save your baby from lifelong health and developmental problems.


MEDLINEPLUS

A specific type of newborn examination performed to allow for early detection of disease(s) and/or disorder(s).
NCI

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hydrolyasy

Enzymes that catalyze the breakage of a carbon-oxygen bond leading to unsaturated products via the removal of water. EC 4.2.1.
MSH

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chymotrypsin

A serine endopeptidase secreted by the pancreas as its zymogen, CHYMOTRYPSINOGEN and carried in the pancreatic juice to the duodenum where it is activated by TRYPSIN. It selectively cleaves aromatic amino acids on the carboxyl side.
MSH

serine endopeptidase secreted by the pancreas as its zymogen, chymotrypsinogen, and carried in the pancreatic juice to the duodenum where it is activated by trypsin.
CSP

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bezpečnost

Freedom from exposure to danger and protection from the occurrence or risk of injury or loss. It suggests optimal precautions in the workplace, on the street, in the home, etc., and includes personal safety as well as the safety of property.
MSH

The state of being certain that adverse effects will not be caused by some agent under defined conditions.
NCI

Relative freedom from harm. In clinical trials, this refers to an absence of harmful side effects resulting from use of the product and may be assessed by laboratory testing of biological samples, special tests and procedures, psychiatric evaluation, and/or physical examination of subjects.
NCI

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oleje prchavé

Oils which evaporate readily. The volatile oils occur in aromatic plants, to which they give odor and other characteristics. Most volatile oils consist of a mixture of two or more TERPENES or of a mixture of an eleoptene (the more volatile constituent of a volatile oil) with a stearopten (the more solid constituent). The synonym essential oils refers to the essence of a plant, as its perfume or scent, and not to its indispensability.
MSH

The scented liquid taken from certain plants using steam or pressure. Essential oils contain the natural chemicals that give the plant its “essence” (specific odor and flavor). Essential oils are used in perfumes, food flavorings, medicine, and aromatherapy.
NCI

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neostigmin

A cholinesterase inhibitor used in the treatment of myasthenia gravis and to reverse the effects of muscle relaxants such as gallamine and tubocurarine. Neostigmine, unlike PHYSOSTIGMINE, does not cross the blood-brain barrier.
MSH

anticholinesterase used in symptomatic treatment of myasthenia gravis, prevention and treatment of postoperative stasis of the gastrointestinal tract or urinary bladder, and as an antidote for neuromuscular blocking agents after surgery.
CSP

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hydrops fetalis

Abnormal accumulation of serous fluid in two or more fetal compartments, such as SKIN; PLEURA; PERICARDIUM; PLACENTA; PERITONEUM; AMNIOTIC FLUID. General fetal EDEMA may be of non-immunologic origin, or of immunologic origin as in the case of ERYTHROBLASTOSIS FETALIS.
MSH

A condition characterized by fluid accumulation in two or more anatomic compartments in the fetus. Causes include Rh incompatibility, congenital heart defects, and chromosomal abnormalities.
NCI

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citrát-(si)-synthasa

the first enzyme of the Krebs` cycle transfers the 2-carbon unit from acetyl coA to oxaloacetate, forming citrate.
CSP

Enzyme that catalyzes the first step of the tricarboxylic acid cycle (CITRIC ACID CYCLE). It catalyzes the reaction of oxaloacetate and acetyl CoA to form citrate and coenzyme A. This enzyme was formerly listed as EC 4.1.3.7.
MSH

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Salmonella arizonae

Gram-negative rods widely distributed in LIZARDS and SNAKES, and implicated in enteric, bone (BONE DISEASES), and joint infections (JOINT DISEASES) in humans.
MSH

A subspecies of aerobic, Gram negative, rod shaped bacteria assigned to the phylum Proteobacteria and the species Salmonella enterica. S. enterica subsp. arizonae is an inhabitant of the gut of reptiles and is pathogenic in humans, although is rarely isolated from clinical specimens.
NCI

Any bacterial organism that can be assigned to the species Salmonella enterica subspecies arizonae.
NCI

a kind of bacteria found it in some reptiles that causes bone and joint diseases in human
CHV

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omeprazol

A highly effective inhibitor of gastric acid secretion used in the therapy of STOMACH ULCERS and ZOLLINGER-ELLISON SYNDROME. The drug inhibits the H(+)-K(+)-ATPase (H(+)-K(+)-EXCHANGING ATPASE) in the proton pump of GASTRIC PARIETAL CELLS.
MSH

substituted benzimidazole used as a gastric acid secretion inhibitor.
CSP

A drug that inhibits gastric acid secretion.
NCI

A benzimidazole with selective and irreversible proton pump inhibition activity. Omeprazole forms a stable disulfide bond with the sulfhydryl group of the hydrogen-potassium (H+ – K+) ATPase found on the secretory surface of parietal cells, thereby inhibiting the final transport of hydrogen ions (via exchange with potassium ions) into the gastric lumen and suppressing gastric acid secretion. This agent exhibits no anticholinergic properties and does not antagonize histamine H2 receptors. Check for “http://www.cancer.gov/Search/ClinicalTrialsLink.aspx?id=42309&idtype=1″ active clinical trials or “http://www.cancer.gov/Search/ClinicalTrialsLink.aspx?id=42309&idtype=1&closed=1″ closed clinical trials using this agent. (“http://nciterms.nci.nih.gov:80/NCIBrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C716″ NCI Thesaurus)
PDQ

A benzimidazole with selective and irreversible proton pump inhibition activity. Omeprazole forms a stable disulfide bond with the sulfhydryl group of the hydrogen-potassium (H+ – K+) ATPase found on the secretory surface of parietal cells, thereby inhibiting the final transport of hydrogen ions (via exchange with potassium ions) into the gastric lumen and suppressing gastric acid secretion. This agent exhibits no anticholinergic activities and does not antagonize histamine H2 receptors.
NCI

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nervový systém

The entire nerve apparatus, composed of a central part, the brain and spinal cord, and a peripheral part, the cranial and spinal nerves, autonomic ganglia, and plexuses. (Stedman, 26th ed)
MSH

entire nerve apparatus; in higher animals it is composed of a central part, the brain and spinal cord, and a peripheral part, the cranial and spinal nerves, autonomic ganglia, and plexuses.
CSP

The organized network of nerve tissue in the body. It includes the central nervous system (the brain and spinal cord), the peripheral nervous system (nerves that extend from the spinal cord to the rest of the body), and other nerve tissue.
NCI

The entire nerve apparatus, composed of a central part, the brain and spinal cord, and a peripheral part, the cranial and spinal nerves, autonomic ganglia, and plexuses.
NCI

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hydroxyprogesterony

Metabolites or derivatives of PROGESTERONE with hydroxyl group substitution at various sites.
MSH

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klindamycin

An antibacterial agent that is a semisynthetic analog of LINCOMYCIN.
MSH

an antibacterial drug
CHV

A semisynthetic broad spectrum antibiotic produced by chemical modification of the parent compound lincomycin. Clindamycin dissociates peptidyl-tRNA from the bacterial ribosome, thereby disrupting bacterial protein synthesis. (NCI04)
NCI

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sarkoidóza

WHAT: Sarcoidosis:
AIR

An idiopathic systemic inflammatory granulomatous disorder comprised of epithelioid and multinucleated giant cells with little necrosis. It usually invades the lungs with fibrosis and may also involve lymph nodes, skin, liver, spleen, eyes, phalangeal bones, and parotid glands.
MSH

inflammatory disease characterized by small lumps or granulomas in lymph nodes and other organs.
CSP

Sarcoidosis is an inflammatory disease. It starts as tiny, grain-like lumps called granulomas, which most often appear in your lungs or lymph nodes. They can clump together and form larger lumps that attack other organs. Sarcoidosis often affects your skin, eyes or liver.

Sarcoidosis may be mild, or it can be severe and do lasting damage. It does not always cause symptoms, so you can have it without knowing it. Symptoms vary, depending on which organs are affected.

No one is sure what causes sarcoidosis. It affects men and women of all ages and races worldwide. However, it occurs mostly in people ages 20 to 40, African Americans, especially women, and people of Asian, German, Irish, Puerto Rican and Scandinavian origin.

NIH: National Heart, Lung, and Blood Institute


MEDLINEPLUS

a disease that produces messes especially in the liver, lungs, skin, and lymph nodes
CHV

An inflammatory disease marked by the formation of granulomas (small nodules of immune cells) in the lungs, lymph nodes, and other organs. Sarcoidosis may be acute and go away by itself, or it may be chronic and progressive.
NCI

An idiopathic inflammatory disorder characterized by the formation of non-necrotizing epithelioid granulomas which contain giant cells. It usually affects the lungs, lymph nodes, liver, and skin.
NCI

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operon

In bacteria, a group of metabolically related genes, with a common promoter, whose transcription into a single polycistronic MESSENGER RNA is under the control of an OPERATOR REGION.
MSH

group of contiguous genes coordinately regulated by a promoter and an operator element; found in prokaryotes.
CSP

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neuroefektorové spoje

The synapse between a neuron (presynaptic) and an effector cell other than another neuron (postsynaptic). Neuroeffector junctions include synapses onto muscles and onto secretory cells.
MSH

junction between a neuron and the effector organ it innervates.
CSP

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hypergamaglobulinémie

An excess of GAMMA-GLOBULINS in the serum due to chronic infections or PARAPROTEINEMIAS.
MSH

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klopidol

A very effective anticoccidial agent used in poultry.
MSH

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Schillingův test

A diagnostic test in which vitamin B12 is tagged with radioactive cobalt, taken orally, and gastrointestinal absorption is determined via measurement of the amount of radioactivity in a 24-hour urine collection.
MSH

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Optics

science that deals with the genesis and propagation of light, the changes that it undergoes and produces, and other phenomena closely associated with it.
CSP

The branch of physics that describes the behavior and properties of light and the interaction of light with matter.
NCI

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neuropeptid Y

A 36-amino acid peptide present in many organs and in many sympathetic noradrenergic neurons. It has vasoconstrictor and natriuretic activity and regulates local blood flow, glandular secretion, and smooth muscle activity. The peptide also stimulates feeding and drinking behavior and influences secretion of pituitary hormones.
MSH

36-amino acid peptide present in many organs and in many sympathetic noradrenergic neurons; has vasoconstrictor and natriuretic activity.
CSP

Encoded by single copy human NPY Gene (NPY Family), 97-aa 11-kDa (precursor) secreted Neuropeptide Y is a 36-aa peptide neuromodulator with sequence homology to peptide YY and PNP. One of the most abundant widespread peptides in the nervous system and found in some adrenal medulla chromaffin cells, NPY is one of the most highly conserved peptides known; only 3 amino acid differences exist between human and shark. Implicated in control of feeding, energy balance, and secretion of GNRH, NPY may also regulate angiogenesis. NPY regulates proliferation of multipotent postnatal neuronal precursor or basal cells by PKC-dependent rapid and transient activation of ERK1/2 MAP kinases (via NPY Y1 receptor subtype). (NCI)
NCI

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hypertelorismus

Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.
MSH

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kokain

An alkaloid ester extracted from the leaves of plants including coca. It is a local anesthetic and vasoconstrictor and is clinically used for that purpose, particularly in the eye, ear, nose, and throat. It also has powerful central nervous system effects similar to the amphetamines and is a drug of abuse. Cocaine, like amphetamines, acts by multiple mechanisms on brain catecholaminergic neurons; the mechanism of its reinforcing effects is thought to involve inhibition of dopamine uptake.
MSH

alkaloid ester extracted from the leaves of plants including coca; has powerful central nervous system effects similar to the amphetamines and is a drug of abuse; acts by multiple mechanisms on brain catecholaminergic neurons; the mechanism of its reinforcing effects is thought to involve inhibition of dopamine uptake; it is also a local anesthetic and vasoconstrictor and is clinically used for that purpose.
CSP

Cocaine is a powerful drug that stimulates the brain. People who use it can form a strong addiction. They may have to use more and more of the drug to get high. It`s sold on the street as a fine, white powder. There are two forms of cocaine: hydrochloride salt and freebase. The salt dissolves in water. People can take it in a vein or in the nose. The freebase form can be smoked. Crack is the street name of a smokable form of cocaine.

No matter how cocaine is taken, it is dangerous. Some of the most common serious problems include

  • Heart problems, including heart attacks
  • Respiratory effects, including respiratory failure
  • Nervous system problems, including strokes
  • Digestive problems

Any of these can be fatal. Using cocaine with alcohol is a common cause of drug-related death.

NIH: National Institute on Drug Abuse


MEDLINEPLUS

A tropane alkaloid with central nervous systems (CNS) stimulating and local anesthetic activity. Cocaine binds to the dopamine, serotonin, and norepinephrine transport proteins and inhibits the re-uptake of dopamine, serotonin, and norepinephrine into pre-synaptic neurons. This leads to an accumulation of the respective neurotransmitters in the synaptic cleft and may result in increased postsynaptic receptor activation. The mechanism of action through which cocaine exerts its local anesthetic effects is by binding to and blocking the voltage-gated sodium channels in the neuronal cell membrane. By stabilizing neuronal membranes, cocaine inhibits the initiation and conduction of nerve impulses and produces a reversible loss of sensation.
NCI

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školy zdravotnické

Schools which offer training in the area of health.
MSH

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organizace – afiliace

Formal relationships established between otherwise independent organizations. These include affiliation agreements, interlocking boards, common controls, hospital medical school affiliations, etc.
MSH

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New Caledonia

A group of islands in Melanesia constituting a French overseas territory. The group includes New Caledonia (the main island), Ile des Pins, Loyalty Island, and several other islet groups. The capital is Noumea. It was discovered by Captain Cook in 1774 and visited by various navigators, explorers, and traders from 1792 to 1840. Occupied by the French in 1853, it was set up as a penal colony 1864-94. In 1946 it was made a French overseas territory. It was named by Captain Cook with the 5th and 6th century A.D. Latin name for Scotland, Caledonia. (From Webster`s New Geographical Dictionary, 1988, p830 & Room, Brewer`s Dictionary of Names, 1992, p375)
MSH

A country in the Pacific, comprised of islands in the South Pacific Ocean, east of Australia. (NCI)
NCI

A country in the Pacific, comprised of islands in the South Pacific Ocean, east of Australia. (CIA World Factbook 2002)
NCI

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HIPOGLIZEMIA

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.
MSH

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.
CSP

Abnormally low blood sugar.
NCI

Did you know you have sugar in your blood? Your body needs glucose, a form of sugar, to have enough energy. After you eat, your blood absorbs glucose. If you eat more sugar than your body needs, your muscles and liver store the extra. When your blood sugar begins to fall, a hormone tells your liver to release glucose. In most people, this raises blood sugar. If it doesn`t, you have hypoglycemia, and your blood sugar can be dangerously low. Signs include

  • Hunger
  • Shakiness
  • Dizziness
  • Confusion
  • Difficulty speaking
  • Feeling anxious or weak

Hypoglycemia is usually a side effect of diabetes medicines. Eating or drinking something with carbohydrates can help. If it happens often, your health care provider may need to change your treatment plan.

You can also have low blood sugar without having diabetes. In that case, your health care provider will try to find the cause using laboratory tests to measure blood glucose, insulin and other chemicals that play a part in the body`s use of energy.


MEDLINEPLUS

A disorder characterized by laboratory test results that indicate a low concentration of glucose in the blood.
NCI

Abnormally low level of glucose in the blood.
NCI

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