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Retinitis Pigmentosa
RETINITIS PIGMENTOSA (RP) is an inherited, degenerative eye disease that causes severe vision impairment due to the progressive degeneration of the rod photoreceptor cells in the retina . This form of retinal dystrophy manifests initial symptoms independent of age; thus, RP diagnosis occurs anywhere from early infancy to late adulthood. Patients in the early stages of RP first notice compromised peripheral and dim light vision due to the decline of the rod photoreceptors. The progressive rod degeneration is later followed by abnormalities in the adjacent retinal pigment epithelium (RPE) and the deterioration of cone photoreceptor cells. As peripheral vision becomes increasingly compromised, patients experience progressive "tunnel vision" and eventual blindness. Affected individuals may additionally experience defective light-dark adaptations, nyctalopia (night blindness), and the accumulation of bone spicules in the fundus
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Coding Strand
When referring to DNA
DNA
transcription , the CODING STRAND is the DNA strand whose base sequence corresponds to the base sequence of the RNA transcript produced (although with thymine replaced by uracil ). It is this strand which contains codons , while the non-coding strand contains anticodons . During transcription, RNA
RNA
Pol II binds the non-coding strand, reads the anti-codons, and transcribes their sequence to synthesize an RNA
RNA
transcript with complementary bases. By convention, the coding strand is the strand used when displaying a DNA
DNA
sequence. It is presented in the 5\' to 3\' direction
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Dysphagia
DYSPHAGIA is the medical term for the symptom of difficulty in swallowing . Although classified under "symptoms and signs" in ICD-10 , the term is sometimes used as a condition in its own right. People with dysphagia are sometimes unaware of having it. The word is derived from the Greek dys meaning bad or disordered, and the root phag- meaning "eat". It may be a sensation that suggests difficulty in the passage of solids or liquids from the mouth to the stomach , a lack of pharyngeal sensation, or various other inadequacies of the swallowing mechanism. Dysphagia is distinguished from other symptoms including odynophagia , which is defined as painful swallowing, and globus , which is the sensation of a lump in the throat. A person can have dysphagia without odynophagia (dysfunction without pain), odynophagia without dysphagia (pain without dysfunction), or both together. A psychogenic dysphagia is known as phagophobia
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Ataxia
ATAXIA is a neurological sign consisting of lack of voluntary coordination of muscle movements that includes gait abnormality . Ataxia
Ataxia
is a non-specific clinical manifestation implying dysfunction of the parts of the nervous system that coordinate movement, such as the cerebellum . Ataxia
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- + -τάξις = "lack of order"
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Visual Phototransduction
VISUAL PHOTOTRANSDUCTION is the sensory transduction of the visual system . It is a process by which light is converted into electrical signals in the rod cells , cone cells and photosensitive ganglion cells of the retina of the eye . This cycle was elucidated by George Wald (1906-1997) for which he received the Nobel Prize in 1967. It is so called "Wald's Visual Cycle" after him. The visual cycle is the biological conversion of a photon into an electrical signal in the retina . This process occurs via G-protein coupled receptors called opsins which contain the chromophore 11-cis retinal . 11-cis retinal is covalently linked to the opsin receptor via Schiff base forming retinylidene protein . When struck by a photon , 11-cis retinal undergoes photoisomerization to all-trans retinal which changes the conformation of the opsin GPCR leading to signal transduction cascades which causes closure of cyclic GMP-gated cation channel, and hyperpolarization of the photoreceptor cell
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Deafness
HEARING LOSS, also known as HEARING IMPAIRMENT, is a partial or total inability to hear . A DEAF person has little to no hearing. Hearing loss may occur in one or both ears. In children hearing problems can affect the ability to learn spoken language and in adults it can cause work related difficulties. In some people, particularly older people, hearing loss can result in loneliness. Hearing
Hearing
loss can be temporary or permanent. Hearing
Hearing
loss may be caused by a number of factors, including: genetics , ageing , exposure to noise , some infections , birth complications, trauma to the ear, and certain medications or toxins. A common condition that results in hearing loss is chronic ear infections . Certain infections during pregnancy such as syphilis and rubella may also cause hearing loss
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Specialty (medicine)
A SPECIALTY (or SPECIALITY) in medicine is a branch of medical practice. After completing medical school , physicians or surgeons usually further their medical education in a specific specialty of medicine by completing a multiple year residency to become a MEDICAL SPECIALIST
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Fundus (eye)
Each fundus has no sign of disease or pathology. The gaze is into the camera, so in each picture the macula is in the center of the image, and the optic disk is located towards the nose. Both optic disks have some pigmentation at the perimeter of the lateral side, which is considered non-pathological. The left image (right eye) shows lighter areas close to larger vessels, which has been regarded as a normal finding in younger people. A fundus photo , showing the optic disc as a bright area on the right where blood vessels converge. The spot to the left of the centre is the macula . The grey, more diffuse spot in the centre is a shadow artifact . The FUNDUS of the eye is the interior surface of the eye opposite the lens and includes the retina , optic disc , macula , fovea , and posterior pole . The fundus can be examined by ophthalmoscopy and/or fundus photography . The term fundus may also be inclusive of Bruch\'s membrane and the choroid
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Pigment
A PIGMENT is a material that changes the color of reflected or transmitted light as the result of wavelength -selective absorption. This physical process differs from fluorescence , phosphorescence , and other forms of luminescence , in which a material emits light. Many materials selectively absorb certain wavelengths of light. Materials that humans have chosen and developed for use as pigments usually have special properties that make them ideal for coloring other materials. A pigment must have a high tinting strength relative to the materials it colors. It must be stable in solid form at ambient temperatures. For industrial applications, as well as in the arts, permanence and stability are desirable properties. Pigments that are not permanent are called fugitive . Fugitive pigments fade over time, or with exposure to light, while some eventually blacken. Pigments are used for coloring paint , ink , plastic , fabric , cosmetics , food , and other materials
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Photopsia
PHOTOPSIA is the presence of perceived flashes of light. It is most commonly associated with posterior vitreous detachment , migraine with aura , migraine aura without headache , retinal break or detachment , occipital lobe infarction , and sensory deprivation (ophthalmopathic hallucinations ). Vitreous shrinkage or liquefaction, which are the most common causes of photopsia, cause a pull in vitreoretinal attachments, irritating the retina and causing it to discharge electrical impulses. These impulses are interpreted by the brain as 'flashes'. This condition has also been identified as a common initial symptom of Punctate inner choroiditis (PIC ), a rare retinal autoimmune disease believed to be caused by the immune system mistakenly attacking and destroying the retina. During pregnancy, new-onset photopsia is concerning for severe preeclampsia . Photopsia can present as retinal detachment when examined by an optometrist or ophthalmologist
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Myopathy
MYOPATHY is a disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness . "Myopathy" simply means muscle disease (Greek myo- "muscle" + patheia < -pathy "suffering"). This meaning implies that the primary defect is within the muscle, as opposed to the nerves ("neuropathies " or "neurogenic " disorders) or elsewhere (e.g., the brain). Muscle
Muscle
cramps , stiffness , and spasm can also be associated with myopathy. MUSCULAR DISEASE can be classified as neuromuscular or musculoskeletal in nature. Some conditions, such as myositis , can be considered both neuromuscular and musculoskeletal. CONTENTS * 1 Signs and symptoms * 2 Systemic diseases * 2.1 Inherited forms * 2.2 Acquired * 2.3 Differential diagnosis * 3 Treatments * 4 References * 5 External links SIGNS AND SYMPTOMSCommon symptoms include muscle weakness, cramps , stiffness , and tetany
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Peripheral Neuropathy
PERIPHERAL NEUROPATHY (PN) is damage to or disease affecting nerves , which may impair sensation, movement, gland or organ function, or other aspects of health, depending on the type of nerve affected. Common causes include systemic diseases (such as diabetes or leprosy ), vitamin deficiency , medication (e.g., chemotherapy , or commonly prescribed antibiotics including Metronidazole and the fluoroquinolone class of antibiotics (Ciprofloxacin, Levaquin, Avelox etc.), traumatic injury , including ischemia, radiation therapy , excessive alcohol consumption, immune system disease , Coeliac disease
Coeliac disease
, or viral infection. It can also be genetic (present from birth) or idiopathic (no known cause). In conventional medical usage , the word neuropathy (neuro-, "nervous system" and -pathy, "disease of") without modifier usually means peripheral neuropathy
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Genes
A GENE (from ancient Greek : γόνος, gonos) is a locus (or region) of DNA
DNA
which is made up of nucleotides and is the molecular unit of heredity . :Glossary The term was introduced by Danish botanist , plant physiologist and geneticist Wilhelm Johannsen
Wilhelm Johannsen
in 1905. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits . These genes make up different DNA
DNA
sequences called genotypes . Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as gene–environment interactions . Some genetic traits are instantly visible, such as eye color or number of limbs, and some are not, such as blood type , risk for specific diseases, or the thousands of basic biochemical processes that comprise life
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Phenotype
A PHENOTYPE (from Greek phainein, meaning 'to show', and typos, meaning 'type') is the composite of an organism 's observable characteristics or traits , such as its morphology , development , biochemical or physiological properties, behavior , and products of behavior (such as a bird's nest). A phenotype results from the expression of an organism's genetic code, its genotype , as well as the influence of environmental factors and the interactions between the two. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic . A well-documented polymorphism is Labrador Retriever coloring ; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black and brown. This genotype-phenotype distinction was proposed by Wilhelm Johannsen in 1911 to make clear the difference between an organism's heredity and what that heredity produces
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Mutation
In biology , a MUTATION is the permanent alteration of the nucleotide sequence of the genome of an organism , virus , or extrachromosomal DNA
DNA
or other genetic elements. Mutations result from errors during DNA
DNA
replication or other types of damage to DNA
DNA
(such as may be caused by exposure to radiation or carcinogens ), which then may undergo error-prone repair (especially microhomology-mediated end joining ), or cause an error during other forms of repair, or else may cause an error during replication (translesion synthesis ). Mutations may also result from insertion or deletion of segments of DNA
DNA
due to mobile genetic elements . Mutations may or may not produce discernible changes in the observable characteristics (phenotype ) of an organism
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Refsum's Disease
REFSUM DISEASE, also known as classic or ADULT REFSUM DISEASE, HEREDOPATHIA ATACTICA POLYNEURITIFORMIS, PHYTANIC ACID OXIDASE DEFICIENCY and PHYTANIC ACID STORAGE DISEASE, is an autosomal recessive neurological disease that results in the over-accumulation of phytanic acid in cells and tissues. It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907–1991). Refsum disease typically is adolescent onset and is diagnosed by above average levels of phytanic acid. Humans obtain the necessary phytanic acid primarily through diet. It is still unclear what function phytanic acid plays physiologically in humans, but has been found to regulate fatty acid metabolism in the liver of mice
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