Subacute Combined Degeneration
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Subacute Combined Degeneration
Subacute combined degeneration of spinal cord, also known as myelosis funiculus, or funicular myelosis, also Lichtheim's disease, and Putnam-Dana syndrome, refers to degeneration of the posterior and lateral columns of the spinal cord as a result of vitamin B12 deficiency (most common), vitamin E deficiency, and copper deficiency. It is usually associated with pernicious anemia. Signs and symptoms The onset is gradual and uniform. The pathological findings of subacute combined degeneration consist of patchy losses of myelin in the dorsal and lateral columns. Patients present with weakness of the legs, arms, and trunk, and tingling and numbness that progressively worsens. Vision changes and change of mental state may also be present. Bilateral spastic paresis may develop and pressure, vibration and touch sense are diminished. A positive Babinski sign may be seen. Prolonged deficiency of vitamin B12 leads to irreversible nervous system damage. HIV-associated vacuolar myelopathy ...
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Posterior Column
Posterior may refer to: * Posterior (anatomy), the end of an organism opposite to its head ** Buttocks, as a euphemism * Posterior horn (other) * Posterior probability, the conditional probability that is assigned when the relevant evidence is taken into account * Posterior tense Relative tense and absolute tense are distinct possible uses of the grammatical category of Grammatical tense, tense. Absolute tense means the grammatical expression of time reference (usually past tense, past, present tense, present or future tense ...
, a relative future tense {{disambiguation ...
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Folic Acid
Folate, also known as vitamin B9 and folacin, is one of the B vitamins. Manufactured folic acid, which is converted into folate by the body, is used as a dietary supplement and in food fortification as it is more stable during processing and storage. Folate is required for the body to make DNA and RNA and metabolise amino acids necessary for cell division. As humans cannot make folate, it is required in the diet, making it an essential nutrient. It occurs naturally in many foods. The recommended adult daily intake of folate in the U.S. is 400 micrograms from foods or dietary supplements. Folate in the form of folic acid is used to treat anemia caused by folate deficiency. Folic acid is also used as a supplement by women during pregnancy to reduce the risk of neural tube defects (NTDs) in the baby. Low levels in early pregnancy are believed to be the cause of more than half of babies born with NTDs. More than 80 countries use either mandatory or voluntary fortification of c ...
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Methylmalonic Acid
Methylmalonic acid (MMA) (conjugate base methylmalonate) is a dicarboxylic acid that is a ''C''-methylated derivative of malonate. The coenzyme A linked form of methylmalonic acid, methylmalonyl-CoA, is converted into succinyl-CoA by methylmalonyl-CoA mutase, in a reaction that requires vitamin B12 as a cofactor. In this way, it enters the Krebs cycle, and is thus part of one of the anaplerotic reactions. Pathology Increased methylmalonic acid levels may indicate a vitamin B12 deficiency. However, it is sensitive (those with the deficiency almost always test positive) but not specific (those that do not have vitamin B12 deficiency may have elevated levels of methylmalonic acid detected). MMA is elevated in 90–98% of patients with B12 deficiency. It has lower specificity as 20–25% of patients over the age of 70 have elevated levels of MMA, but 25–33% of them do not have B12 deficiency. For this reason, MMA test is not routinely recommended in the elderly. Moreover, recently ...
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Dorsal Column
Dorsal (from Latin ''dorsum'' ‘back’) may refer to: * Dorsal (anatomy), an anatomical term of location referring to the back or upper side of an organism or parts of an organism * Dorsal, positioned on top of an aircraft's fuselage * Dorsal consonant, a consonant articulated with the back of the tongue * Dorsal fin A dorsal fin is a fin located on the back of most marine and freshwater vertebrates within various taxa of the animal kingdom. Many species of animals possessing dorsal fins are not particularly closely related to each other, though through conv ..., the fin located on the back of a fish or aircraft * Dorsal transcription factor, a maternally synthesized transcription factor {{disambig de:Dorsale fr:Dorsale it:Dorsale ...
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Bassen-Kornzweig Syndrome
Abetalipoproteinemia (also known as: Bassen-Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome) is a disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is caused by a mutation in microsomal triglyceride transfer protein resulting in deficiencies in the apolipoproteins B-48 and B-100, which are used in the synthesis and exportation of chylomicrons and VLDL respectively. It is not to be confused with familial dysbetalipoproteinemia. It is a rare autosomal recessive disorder. Presentation Symptoms Often symptoms will arise that indicate the body is not absorbing or making the lipoproteins that it needs. These symptoms usually appear ''en masse''. These symptoms come as follows: * Failure to thrive (i.e. failure to grow in infancy) * Steatorrhea (i.e. fatty, pale stools) * Frothy stools * Foul smelling stools * Protruding abdomen * Intellectual dis ...
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Cystic Fibrosis
Cystic fibrosis (CF) is a rare genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections. Other signs and symptoms may include sinus infections, poor growth, fatty stool, clubbing of the fingers and toes, and infertility in most males. Different people may have different degrees of symptoms. Cystic fibrosis is inherited in an autosomal recessive manner. It is caused by the presence of mutations in both copies of the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Those with a single working copy are carriers and otherwise mostly healthy. CFTR is involved in the production of sweat, digestive fluids, and mucus. When the CFTR is not functional, secretions which are usually thin instead become thick. The condition is diagnosed by a sweat test and genetic testing. Screening of infants at bi ...
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Vitamin E Deficiency
Vitamin E deficiency in humans is a very rare condition, occurring as a consequence of abnormalities in dietary fat absorption or metabolism rather than from a diet low in vitamin E. Collectively the EARs, RDAs, AIs and ULs for vitamin E and other essential nutrients are referred to as Dietary Reference Intakes (DRIs). Vitamin E deficiency can cause nerve problems due to poor conduction of electrical impulses along nerves due to changes in nerve membrane structure and function. Signs and symptoms Signs of vitamin E deficiency include the following: * Neuromuscular problems – such as spinocerebellar ataxia and myopathies. * Neurological problems – may include dysarthria, absence of deep tendon reflexes, loss of the ability to sense vibration and detect where body parts are in three dimensional space, and positive Babinski sign. * Hemolytic anemia – due to oxidative damage to red blood cells * Retinopathy * Impairment of the immune response Causes Vitamin E deficiency is ra ...
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Intrinsic Factor
Intrinsic factor (IF), cobalamin binding intrinsic factor, also known as gastric intrinsic factor (GIF), is a glycoprotein produced by the parietal cells (in humans) or chief cells (in rodents) of the stomach. It is necessary for the absorption of vitamin B12 later on in the distal ileum of the small intestine. In humans, the gastric intrinsic factor protein is encoded by the ''CBLIF'' gene. Haptocorrin ( transcobalamin I) is another glycoprotein secreted by the salivary glands which binds to vitamin B12. Vitamin B12 is acid-sensitive and in binding to haptocorrin it can safely pass through the acidic stomach to the duodenum. In the less acidic environment of the small intestine, pancreatic enzymes digest the glycoprotein carrier and vitamin B12 can then bind to intrinsic factor. This new complex is then absorbed by the epithelial cells (enterocytes) of the ileum. Inside the cells, vitamin B12 dissociates once again and binds to another protein, transcobalamin II; the new compl ...
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Terminal Ileum
The ileum () is the final section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds. In fish, the divisions of the small intestine are not as clear and the terms posterior intestine or distal intestine may be used instead of ileum. Its main function is to absorb vitamin B12, bile salts, and whatever products of digestion that were not absorbed by the jejunum. The ileum follows the duodenum and jejunum and is separated from the cecum by the ileocecal valve (ICV). In humans, the ileum is about 2–4 m long, and the pH is usually between 7 and 8 (neutral or slightly basic). ''Ileum ''is derived from the Greek word ''eilein'', meaning "to twist up tightly". Structure The ileum is the third and final part of the small intestine. It follows the jejunum and ends at the ileocecal junction, where the terminal ileum communicates with the cecum of the large intestine through the ileocecal valve. The ileum, along with the jejunum, is suspended ...
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Ataxia
Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements. Ataxia is a clinical manifestation indicating dysfunction of the parts of the nervous system that coordinate movement, such as the cerebellum. Ataxia can be limited to one side of the body, which is referred to as hemiataxia. Several possible causes exist for these patterns of neurological dysfunction. Dystaxia is a mild degree of ataxia. Friedreich's ataxia has gait abnormality as the most commonly presented symptom. The word is from Greek α- negative prefix+ -τάξις rder= "lack of order". Types Cerebellar The term cerebellar ataxia is used to indicate ataxia due to dysfunction of the cerebellum. The cerebellum is responsible for integrating a significant amount of neural information that is used to coordinate smoothly ongoing movements and to participate in motor planning. Although a ...
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Spinocerebellar Tract
The spinocerebellar tract is a nerve tract originating in the spinal cord and terminating in the same side (ipsilateral) of the cerebellum. Origins of proprioceptive information Proprioceptive information is obtained by Golgi tendon organs and muscle spindles. * Golgi tendon organs consist of a fibrous capsule enclosing tendon fascicles and bare nerve endings that respond to tension in the tendon by causing action potentials in type Ib afferents. These fibers are relatively large, myelinated, and quickly conducting. * Muscle spindles monitor the length within muscles and send information via faster Ia afferents. These axons are larger and faster than type Ib (from both nuclear bag fibers and nuclear chain fibers) and type II afferents (solely from nuclear chain fibers). All of these neurons are sensory (first order, or primary) and have their cell bodies in the dorsal root ganglia. They pass through Rexed laminae layers I-VI of the posterior grey column (dorsal horn) to form s ...
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Spasticity
Spasticity () is a feature of altered skeletal muscle performance with a combination of paralysis, increased tendon reflex activity, and hypertonia. It is also colloquially referred to as an unusual "tightness", stiffness, or "pull" of muscles. Clinically, spasticity results from the loss of inhibition of motor neurons, causing excessive velocity-dependent muscle contraction. This ultimately leads to hyperreflexia, an exaggerated deep tendon reflex. Spasticity is often treated with the drug baclofen, which acts as an agonist at GABA receptors, which are inhibitory. Spastic cerebral palsy is the most common form of cerebral palsy, which is a group of permanent movement problems that do not get worse over time. GABA's inhibitory actions contribute to baclofen's efficacy as an anti-spasticity agent. Cause Spasticity mostly occurs in disorders of the central nervous system (CNS) affecting the upper motor neurons in the form of a lesion, such as spastic diplegia, or upper motor neu ...
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