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Friedreichova ataxie

An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)
MSH

inherited disease with degenerative changes in the dorsal half of spinal cord and cerebellum; characterized by ataxia of extremities and trunk, speech impairment, and lateral curvature of the spine.
CSP

Friedreich`s ataxia is an inherited disease that damages your nervous system. The damage affects your spinal cord and the nerves that control muscle movement in your arms and legs. Symptoms usually begin between the ages of 5 and 15. The main symptom is ataxia, which means trouble coordinating movements. Specific symptoms include

  • Difficulty walking
  • Muscle weakness
  • Speech problems
  • Involuntary eye movements
  • Scoliosis
  • Heart palpitations

People with Friedreich`s ataxia usually need a wheelchair 15 to 20 years after symptoms first appear. In severe cases, people become incapacitated. There is no cure. You can treat symptoms with medicines, braces, surgery and physical therapy.

NIH: National Institute of Neurological Disorders and Stroke


MEDLINEPLUS

An autosomal recessive inherited disorder caused by mutations in the FXN gene. It is characterized by progressive degeneration of the nerve tissues of the spinal cord. The main symptoms include gait and balance disturbances, lack of limb coordination, and speech disturbances.
NCI

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palmitoyl-CoA-hydrolasa

Enzyme catalyzing reversibly the hydrolysis of palmitoyl-CoA or other long-chain acyl coenzyme A compounds to yield CoA and palmitate or other acyl esters. The enzyme is involved in the esterification of fatty acids to form triglycerides. EC 3.1.2.2.
MSH

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BCG vakcína

An active immunizing agent and a viable avirulent attenuated strain of Mycobacterium tuberculosis, var. bovis, which confers immunity to mycobacterial infections. It is used also in immunotherapy of neoplasms due to its stimulation of antibodies and non-specific immunity.
MSH

active immunizing agent and a viable avirulent attenuated strain of Mycobacterium tuberculosis, var. bovis, which confers immunity to mycobacterial infections; used also in immunotherapy of neoplasms due to its stimulation of antibodies and non-specific immunity.
CSP

A weakened form of the bacterium Mycobacterium bovis (bacillus Calmette-Guerin) that does not cause disease. BCG is used in a solution to stimulate the immune system in the treatment of bladder cancer and as a vaccine to prevent tuberculosis.
NCI

A vaccine containing bacillus Calmette-Guerin (BCG), an attenuated strain of Mycobacterium bovis, with non-specific immunoadjuvant and immunotherapeutic activities. Although the mechanism of its anti-tumor activity is unclear, immunization with BCG vaccine likely activates a Th1 cytokine response that includes the induction of interferon. Vaccination with BCG vaccine may be immunoprotective against infection with Mycobacterium tuberculosis.
NCI

Bacillus Calmette-Guerin vaccine


HL7V3.0

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lordóza

The anterior concavity in the curvature of the lumbar and cervical spine as viewed from the side. The term usually refers to abnormally increased curvature (hollow back, saddle back, swayback). It does not include lordosis as normal mating posture in certain animals ( = POSTURE + SEX BEHAVIOR, ANIMAL).
MSH

A disorder characterized by an abnormal increase in the curvature of the lumbar portion of the spine.
NCI

Abnormally increased curvature of the lumbar portion of the spinal column.
NCI

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nemoc silážních dělníků

A form of alveolitis or PNEUMONITIS caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage.
MSH

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cholestanol

A cholesterol derivative found in human feces, gallstones, eggs, and other biological matter.
MSH

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vykuřování

The application of smoke, vapor, or gas for the purpose of disinfecting or destroying pests or microorganisms.
MSH

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pancytopenie

Deficiency of all three cell elements of the blood, erythrocytes, leukocytes and platelets.
MSH

The inability of the bone marrow to produce hematopoietic elements.
NCI

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Belgie

A country in Western Europe, bordering the North Sea, between France and the Netherlands. (NCI)
NCI

A country in Western Europe, bordering the North Sea, between France and the Netherlands. (CIA World Factbook 2002)
NCI

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plíce – poddajnost

The capability of the LUNGS to distend under pressure as measured by pulmonary volume change per unit pressure change. While not a complete description of the pressure-volume properties of the lung, it is nevertheless useful in practice as a measure of the comparative stiffness of the lung. (From Best & Taylor`s Physiological Basis of Medical Practice, 12th ed, p562)
MSH

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rozměry – percepce

The sensory interpretation of the dimensions of objects.
MSH

sensory interpretation of the dimensions of objects.
CSP

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dimethisteron

A synthetic progestational hormone without significant estrogenic or androgenic properties. It was formerly used as the progestational component in oral sequential contraceptives.
MSH

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Gabon

A republic in west equatorial Africa, south of CAMEROON and west of the CONGO. Its capital is Libreville.
MSH

A country in Western Africa, bordering the Atlantic Ocean at the Equator, between Republic of the Congo and Equatorial Guinea. (NCI)
NCI

A country in Western Africa, bordering the Atlantic Ocean at the Equator, between Republic of the Congo and Equatorial Guinea. (CIA World Factbook 2002)
NCI

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parakokcidioidomykóza

A mycosis affecting the skin, mucous membranes, lymph nodes, and internal organs. It is caused by Paracoccidioides brasiliensis. It is also called paracoccidioidal granuloma. Superficial resemblance of P. brasiliensis to Blastomyces brasiliensis (BLASTOMYCES) may cause misdiagnosis.
MSH

A systemic fungal infection caused by Paracoccidioides brasiliensis that is most often seen in immunocompromised patients. It affects the mucous membranes, lymph nodes, lungs and bones.
NCI

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benzhydrylové sloučeniny

Compounds which contain the methyl radical substituted with two benzene rings. Permitted are any substituents, but ring fusion to any of the benzene rings is not allowed.
MSH

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lymfadenitida

Inflammation of the lymph nodes.
MSH

A disorder characterized by an infectious process involving the lymph nodes.
NCI

An acute or chronic infectious process affecting the lymph nodes.
NCI

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lebka – nádory

Neoplasms of the bony part of the skull.
MSH

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Dipetalonema

A filarial nematode parasite of mammalian blood with the vector being a tick or small fly.
MSH

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gallopamil

Coronary vasodilator that is an analog of iproveratril (VERAPAMIL) with one more methoxy group on the benzene ring.
MSH

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paraoxon

An organophosphate cholinesterase inhibitor that is used as a pesticide.
MSH

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bepridil

A long-acting calcium-blocking agent with significant anti-anginal activity. The drug produces significant coronary vasodilation and modest peripheral effects. It has antihypertensive and selective anti-arrhythmia activities and acts as a calmodulin antagonist.
MSH

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lymfopenie

Reduction in the number of lymphocytes.
MSH

decrease in the proportion of lymphocytes in the blood.
CSP

A finding based on laboratory test results that indicate a decrease in number of lymphocytes in a blood specimen.
NCI

A condition in which there is a lower-than-normal number of lymphocytes (a type of white blood cell) in the blood.
NCI

An abnormally small number of lymphocytes in the circulating blood.
NCI

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sociální přizpůsobení

Adaptation of the person to the social environment. Adjustment may take place by adapting the self to the environment or by changing the environment. (From Campbell, Psychiatric Dictionary, 1996)
MSH

adaptation of the person to the social environment; adjustment may take place by adapting the self to the environment or by changing the environment.
CSP

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katastrofy – předvídání

Procedures outlined for the care of casualties and the maintenance of services in disasters.
MSH

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gangliosidy

A subclass of ACIDIC GLYCOSPHINGOLIPIDS. They contain one or more sialic acid (N-ACETYLNEURAMINIC ACID) residues. Using the Svennerholm system of abbrevations, gangliosides are designated G for ganglioside, plus subscript M, D, or T for mono-, di-, or trisialo, respectively, the subscript letter being followed by a subscript arabic numeral to indicated sequence of migration in thin-layer chromatograms. (From Oxford Dictionary of Biochemistry and Molecular Biology, 1997)
MSH

subclass of acidic glycosphingolipids containing one or more sialic acid residues.
CSP

A complex molecule that contains both lipids (fats) and carbohydrates (sugars) and is found in the plasma (outer) membrane of many kinds of cells. Several different types of gangliosides have been identified.
NCI

Sialoglycosphingolipids (synonym: gangliosides) are glycosphingolipids carrying one or more sialic residues. Sialic acid is the generic term for N-acetyl- or N-glycoloylneuraminic acid. Gangliosides are named as N-acetyl- (or N-glycoloyl-)neuraminosyl-(X)osylceramide, where (X) stands for the root name of the neutral oligosaccharide to which the sialosyl residue is attached ; found principally in nerve tissue, spleen, and thymus; GM1 accumulates in generalized gangliosidosis; GM2 accumulates in Tay-Sachs disease.
NCI

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rodiče

Persons functioning as natural, adoptive, or substitute parents. The heading includes the concept of parenthood as well as preparation for becoming a parent.
MSH

persons functioning as natural, adoptive, or substitute mother or father.
CSP

One that begets or brings forth offspring or a person who brings up and cares for for another (Webster`s Collegiate Dictionary)


HL7V3.0

A mother or a father; an immediate progenitor.
NCI

A mother or a father.
NCI

one that begets or brings forth offspring or a person who brings up and cares for another (Webster`s Collegiate Dictionary)


HL7V3.0

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betamethason

A glucocorticoid given orally, parenterally, by local injection, by inhalation, or applied topically in the management of various disorders in which corticosteroids are indicated. Its lack of mineralocorticoid properties makes betamethasone particularly suitable for treating cerebral edema and congenital adrenal hyperplasia. (From Martindale, The Extra Pharmacopoeia, 30th ed, p724)
MSH

A synthetic glucocorticoid with metabolic, immunosuppressive and anti-inflammatory activities. Betamethasone binds to specific intracellular glucocorticoid receptors and subsequently binds to DNA to modify gene expression. The synthesis of certain anti-inflammatory proteins is induced while the synthesis of certain inflammatory mediators is inhibited. As a result, there is an overall reduction in chronic inflammation and autoimmune reactions. Check for “http://www.cancer.gov/Search/ClinicalTrialsLink.aspx?id=39273&idtype=1″ active clinical trials or “http://www.cancer.gov/Search/ClinicalTrialsLink.aspx?id=39273&idtype=1&closed=1″ closed clinical trials using this agent. (“http://nciterms.nci.nih.gov:80/NCIBrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C303″ NCI Thesaurus)
PDQ

A synthetic glucocorticoid with metabolic, immunosuppressive and anti-inflammatory activities. Betamethasone binds to specific intracellular glucocorticoid receptors and subsequently binds to DNA to modify gene expression. The synthesis of certain anti-inflammatory proteins is induced while the synthesis of certain inflammatory mediators is inhibited. As a result, there is an overall reduction in chronic inflammation and autoimmune reactions.
NCI

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makrofágy – faktory inhibice migrace

Proteins released by sensitized LYMPHOCYTES and possibly other cells that inhibit the migration of MACROPHAGES away from the release site. The structure and chemical properties may vary with the species and type of releasing cell.
MSH

protein factors released by sensitized lymphocytes (and possibly other cells) that inhibit the movement of macrophages and leukocytes away from their site of release.
CSP

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sociální práce psychiatrická

Use of all social work processes in the treatment of patients in a psychiatric or mental health setting.
MSH

use of social work processes in the treatment of patients in a psychiatric or mental health setting.
CSP

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psinka

A name for several highly contagious viral diseases of animals, especially canine distemper. In dogs, it is caused by the canine distemper virus (DISTEMPER VIRUS, CANINE). It is characterized by a diphasic fever, leukopenia, gastrointestinal and respiratory inflammation and sometimes, neurologic complications. In cats it is known as FELINE PANLEUKOPENIA.
MSH

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