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Subacute Combined Degeneration Of Spinal Cord
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). It may also occur similarly as result of 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 syste ...
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Posterior Column
Posterior may refer to: * Posterior (anatomy), the end of an organism opposite to anterior ** Buttocks, as a euphemism * Posterior horn (other) * Posterior probability The posterior probability is a type of conditional probability that results from updating the prior probability with information summarized by the likelihood via an application of Bayes' rule. From an epistemological perspective, the posteri ..., the conditional probability that is assigned when the relevant evidence is taken into account * Posterior 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 and maturation of blood cells. As the human body cannot make folate, it is required in the diet, making it an Nutrient#Essential nutrients, 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 folic acid deficiency, 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. NTDs include anencephaly and spina bifida, among other defects. Low levels in early pregna ...
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Methylmalonic Acid
Methylmalonic acid (MMA) is a chemical compound from the group of dicarboxylic acids. It consists of the basic structure of malonic acid and also carries a methyl group. The salts of methylmalonic acid are called methylmalonates. Metabolism Methylmalonic acid is a by-product of the propionate metabolism pathway. The starting sources for this are the following with the respective approximate contributions to whole body propionate metabolism in brackets: * essential amino acids: methionine, valine, threonine and isoleucine (~ 50%) * odd-chain fatty acids (~ 30%) * propionic acid from bacterial fermentation (~ 20%) * cholesterol side chain * thymine The propionate derivative, propionyl-CoA, is converted into D- methylmalonyl-CoA by propionyl-CoA carboxylase and then converted into L-methylmalonyl-CoA by methylmalonyl-CoA epimerase. Entry into the citric acid cycle occurs through the conversion of L-methylmalonyl-CoA into succinyl-CoA by L-methylmalonyl-CoA mutase, whereby vi ...
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Dorsal Column
The dorsal column nuclei are a pair of nuclei in the dorsal columns of the dorsal column–medial lemniscus pathway (DCML) in the brainstem. The name refers collectively to the cuneate nucleus and gracile nucleus, which are situated at the lower end of the medulla oblongata. Both nuclei contain second-order neurons of the DCML, which convey fine touch and proprioceptive information from the body to the brain via the thalamus. Structure Nerve pathways The dorsal column nuclei each have an associated nerve tract in the spinal cord, the gracile fasciculus and the cuneate fasciculus, together forming the dorsal columns. Both dorsal column nuclei contain synapses from afferent nerve fibers that have travelled in the spinal cord. They then send on second-order neurons of the dorsal column–medial lemniscal pathway. Neurons of the dorsal column nuclei eventually reach the midbrain and the thalamus. They send axons that form the internal arcuate fibers. These cross over at t ...
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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 characterized by abnormal 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 Initial symptoms usually appear in infancy, including: * Failure to thrive (i.e. failure to grow in infancy) * Steatorrhea (i.e. fatty, pale stools) * Frothy stools * Foul smelling stools * Protruding abdomen The rate of occurrence of additional symptoms later in life varies and increases with age. These may include: * Intellectual disability/developmental d ...
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Cystic Fibrosis
Cystic fibrosis (CF) is a genetic disorder inherited in an autosomal recessive manner that impairs the normal clearance of Sputum, mucus from the lungs, which facilitates the colonization and infection of the lungs by bacteria, notably ''Staphylococcus aureus''. CF is a rare genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. The hallmark feature of CF is the accumulation of thick mucus in different organs. Long-term issues include Shortness of breath, difficulty breathing and coughing up mucus as a result of frequent pneumonia, lung infections. Other signs and symptoms may include Sinusitis, sinus infections, failure to thrive, poor growth, Steatorrhea, fatty stool, Nail clubbing, 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 (alleles) ...
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Vitamin E Deficiency
Vitamin E deficiency is a rare condition caused by low levels of vitamin E that may result from malabsorption disorders (such as abetalipoproteinemia, cystic fibrosis, or Crohn's disease), or impaired lipid transport. As a potent antioxidant, vitamin E protects cell membranes from oxidative damage, and its deficiency primarily affects tissues with high fatty acid content, especially the nervous system. Clinically, patients may present with spinocerebellar ataxia, polyneuropathy, muscle weakness, and retinopathy. Diagnosis is confirmed through low serum vitamin E levels, and treatment involves dietary supplementation with vitamin E and (if possible) addressing the underlying cause of malabsorption. The term 'vitamin E' commonly refers to α-tocopherol, and so α-tocopherol deficiency refers to the same syndrome. Signs and symptoms Vitamin E deficiency is typically seen only in the setting of severe and prolonged illnesses causing steatorrhea or other forms of malabsorption. Other ...
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Intrinsic Factor
Intrinsic factor (IF), also known as cobalamin binding intrinsic factor, or 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 ne ...
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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, 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 base (chemistry), basic). ''Ileum'' is derived from the Greek word εἰλεός (eileós), referring to a medical condition known as ileus. 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 wikt:terminal, terminal ileum communicates with the cecum of the large intestine thr ...
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Ataxia
Ataxia (from Greek α- negative prefix+ -τάξις rder= "lack of order") 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, that indicates dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum. These nervous system dysfunctions occur in several different patterns, with different results and different possible causes. Ataxia can be limited to one side of the body, which is referred to as hemiataxia. Friedreich's ataxia has gait abnormality as the most commonly presented symptom. Dystaxia is a mild degree of ataxia. 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. A ...
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Spinocerebellar Tract
The spinocerebellar tracts are nerve tracts originating in the spinal cord and terminating in the same side (ipsilateral) of the cerebellum. The two main tracts are the dorsal spinocerebellar tract, and the ventral spinocerebellar tract. Both of these tracts are located in the peripheral region of the lateral funiculi (white matter columns). Other tracts are the rostral spinocerebellar tract, and the cuneocerebellar tract (posterior external arcuate fibers). They carry proprioceptive, and cutaneous information to the cerebellum, where movement can be coordinated. 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 ...
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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. Pathophysiology Spasticity is usually caused by damage to nerve pathways within the brain or spinal cord that control muscle movement. This can cause an imbalance in the inhibitory ...
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