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Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
An odd-eyed cat is a cat with one blue eye and one eye either green, yellow, or brown. This is a feline form of complete heterochromia, a condition that occurs in some other animals. The condition most commonly affects white-colored cats, but may be found in a cat of any color, provided that it possesses the white spotting gene.
The odd-eyed coloring is caused when either the epistatic (dominant) white gene (which masks any other color genes and turns a cat completely white) or the white spotting gene (which is the gene responsible for bicolor and tuxedo cats) prevents melanin (pigment) granules from reaching one eye during development, resulting in a cat with one blue eye and one green, yellow, or brown eye. The condition only rarely occurs in cats that lack both the dominant white and the white spotting gene.
Heterochromia is classified primarily by onset: as either genetic or acquired.
Although a distinction is frequently made between heterochromia that affects an eye completely or only partially (segmental heterochromia), it is often classified as either genetic (due to mosaicism or congenital) or acquired, with mention as to whether the affected iris or portion of the iris is darker or lighter. Most cases of heterochromia are hereditary, caused by certain diseases and syndromes. Sometimes one eye may change color following disease or injury.
Acquired heterochromia is usually due to injury, inflammation, the use of certain eyedrops that damages the iris, or tumors.
Melanism is a development of the dark-colored pigment melanin in the skin or its appendages and is the opposite of albinism. The word "melanism" is derived from the ("black pigment").
Pseudo-melanism, also called abundism, is another variant of pigmentation, characterized by dark spots or enlarged stripes, which cover a large part of the body of the animal, making it appear melanistic.
A deficiency in or total absence of melanin pigments is called amelanism.
The morbid deposition of black matter, often of a malignant character causing pigmented tumors, is called melanosis. For a description of melanin-related disorders, see melanin and ocular melanosis.
Diplopia can also occur when viewing with only one eye; this is called monocular diplopia, or, where the patient perceives more than two images, monocular polyopia. While there rarely may be serious causes behind monocular diplopia symptoms, this is much less often the case than with binocular diplopia. The differential diagnosis of multiple image perception includes the consideration of such conditions as corneal surface keratoconus, subluxation of the lens, a structural defect within the eye, a lesion in the anterior visual cortex or non-organic conditions, however diffraction-based (rather than geometrical) optical models have shown that common optical conditions, especially astigmatism, can also produce this symptom.
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 (ophthalmo"pathic" 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. However, it can also be a sign of Uveal melanoma. This condition is extremely rare (5–7 per 1 million people will be affected, typically fair-skinned, blue-eyed northern Europeans). Photopsia should be investigated immediately.
Temporary binocular diplopia can be caused by alcohol intoxication or head injuries, such as concussion (if temporary double vision does not resolve quickly, one should see an optometrist or ophthalmologist immediately). It can also be a side effect of benzodiazepines or opioids, particularly if used in larger doses for recreation, the anti-epileptic drugs Phenytoin and Zonisamide, and the anti-convulsant drug Lamotrigine, as well as the hypnotic drug Zolpidem and the dissociative drugs Ketamine and Dextromethorphan. Temporary diplopia can also be caused by tired and/or strained eye muscles or voluntarily. If diplopia appears with other symptoms such as fatigue and acute or chronic pain, the patient should see an ophthalmologist immediately.
Unlike some coat color dilution lethals, which may result in premature births, stillborn, or weak foals, foals born with lethal white syndrome appear to be fully formed and normal. The coat is entirely or almost entirely pure white with underlying unpigmented pink skin. Pigmented regions may be any color, and if present, are most common around the muzzle, underside of the barrel, and the hindquarters or tail. The eyes are blue. A few lethal white foals have been shown to be deaf.
Healthy foals pass meconium, the first stool, soon after birth, though some healthy foals may require an enema to assist this process, but the meconium of LWS foals is impacted high in the intestine, and never appears, even with the use of enemas. Signs of colic begin to appear within the first day, and all LWS-afflicted foals die within the first few days of life. The painful and inevitable death that follows usually prompts veterinarians and owners to euthanize foals suspected of having lethal white syndrome.
Death is caused by an underdeveloped part of the digestive system. The large intestine of the horse is a complex system where most digestion takes place, and comprises the cecum, the colon, and the rectum. Necropsies on LWS foals reveal a pale, underdeveloped colon and intestinal obstruction (impaction). Samples of affected tissue show a lack of nerves that allow the intestine to move material through the digestive system, a condition called intestinal agangliosis.
Closer examination of the skin and hair shows both to be unpigmented, and most hair follicles are inactive and many are devoid of hair altogether. All LWS foals test homozygous for a genetic abnormality.
Lethal white syndrome (LWS), also called overo lethal white syndrome (OLWS), lethal white overo (LWO), and overo lethal white foal syndrome (OLWFS), is an autosomal genetic disorder most prevalent in the American Paint Horse. Affected foals are born after the full 11-month gestation and externally appear normal, though they have all-white or nearly all-white coats and blue eyes. However, internally, these foals have a nonfunctioning colon. Within a few hours, signs of colic appear; affected foals die within a few days. Because the death is often painful, such foals often are humanely euthanized once identified. The disease is particularly devastating because foals are born seemingly healthy after being carried to full term.
The disease has a similar cause to Hirschsprung's disease in humans. A mutation in the middle of the endothelin receptor type B (EDNRB) gene causes lethal white syndrome when homozygous. Carriers, which are heterozygous—that is, have one copy of the mutated allele, but themselves are healthy—can now be reliably identified with a DNA test. Both parents must be carriers of one copy of the LWS allele for an affected foal to be born.
Horses that are heterozygous for the gene that causes lethal white syndrome often exhibit a spotted coat color pattern commonly known as "frame" or "frame overo". Coat color alone does not always indicate the presence of LWS or carrier status, however. The frame pattern may be minimally expressed or masked by other spotting patterns. Also, different genetic mechanisms produce healthy white foals and have no connection to LWS, another reason for genetic testing of potential breeding stock. Some confusion also occurs because the term overo is used to describe a number of other non tobiano spotting patterns besides the frame pattern. Though no treatment or cure for LWS foals is known, a white foal without LWS that appears ill may have a treatable condition.
The term squitten is generally used to refer to cats with the condition radial hypoplasia (underdeveloped radius bones) or foreleg micromelia (small forelegs) and related conditions known as radial aplasia (absent radius bones), radial agenesis (failure of radius bones to form) that produces stunted forelegs. The mutation sometimes occurs in the random-breeding population, particularly in inbred populations where recessive genes may be exhibited. Such cats have also been called twisty cats; In the late 1990s, several were deliberately bred at Karma Farms, a horse farm and cattery in Marshall, Texas, resulting in a public outcry against the operators of the farm.
Radial hypoplasia is related to one form of polydactyly, sometimes called patty feet or hamburger feet by cat lovers to distinguish them from thumb cat polydactyls. Ordinary mitten cat polydactyls are not affected.
Cats with radial hypoplasia or similar mutations often sit on their rump with their forelegs unable to touch the floor; this gives them a resemblance to a squirrel or kangaroo. This raises special care considerations for owners of affected cats. Kittens may be unable to knead effectively with their short forelegs; kneading is required to stimulate milk flow in the mother. The short or twisted forelegs cause mobility problems and such cats may adapt by using their hindlegs in a hopping gait.
A corresponding condition affecting the hind legs is called femoral hypoplasia and has only been reported three times in cats.
Typical characteristics of a squitten are short forelegs, with a short radius and ulna which may be twisted or absent, extra front toes, and normal-length hind legs.
Amelanism (also known as amelanosis) is a pigmentation abnormality characterized by the lack of pigments called melanins, commonly associated with a genetic loss of tyrosinase function. Amelanism can affect fish, amphibians, reptiles, birds, and mammals including humans. The appearance of an amelanistic animal depends on the remaining non-melanin pigments. The opposite of amelanism is melanism, a higher percentage of melanin.
A similar condition, albinism, is a hereditary condition characterised in animals by the absence of pigment in the eyes, skin, hair, scales, feathers or cuticle. This results in an all white animal, usually with pink or red eyes.
A squitten is a cat with unusually short forelegs and/or unusually long hind legs that resembles a squirrel. It is an example of a cat body type genetic mutation. The word is a portmanteau of squirrel and kitten.
The term kangaroo cat is also, rarely, used; this derives from a 1953 specimen known as the Stalingrad Kangaroo Cat.
Angel wing, also known as airplane wing, slipped wing, crooked wing, and drooped wing, is a syndrome that affects primarily aquatic birds, such as geese and ducks, in which the last joint of the wing is twisted with the wing feathers pointing out laterally, instead of lying against the body. Males develop it more frequently than females. It has also been reported in goshawks, bustard chicks, and psittacine birds (budgerigars, macaws, and conures).
The syndrome is acquired in young birds. Due to a high-calorie diet, especially one high in proteins and/or low in vitamin D, vitamin E, and manganese, one or both carpus (wrist) joints are retarded in their development relative to the rest of the wing; for reasons unknown, if only one wing is affected, it is usually the left one. The result is a wrist which is twisted outwards and unable to perform its usual function. Angel wing symptoms include stripped remiges (flight feathers) in the wrist area, or remiges protruding from wings at odd angles. In extreme cases, the stripped feathers may resemble sickly blue straws protruding from wings. In adult birds, the disease is incurable and usually leads to an early death, as affected birds are rendered effectively or totally flightless. In young birds, wrapping the wing and binding it against the bird's flank, together with feeding the bird a more nutritionally balanced diet, can reverse the damage.
The theorized causes of angel wing are genetics, the excessive intake of carbohydrates and proteins, together with insufficient intake of vitamin E, low dietary calcium and manganese deficiency. Angel wing is occasionally observed in waterfowl residing near humans, (including domestic fowl), and the disease can sometimes be observed in areas where geese or ducks are excessively fed bread. Duck seed is an alternative for duck feeders.
Psychogenic alopecia, also called "over-grooming" or "psychological baldness," is a compulsive behavior that affects domestic cats. Generally, psychogenic alopecia does not lead to serious health consequences or a decreased lifespan.
A unilateral decrease in visual acuity is the most common symptom of toxoplasmic retinitis.
Under ophthalmic examination, toxoplasmic chorioretinitis classically appears as a focal, white retinitis with overlying moderate inflammation of the vitreous humour. A unifocal area of acute-onset inflammation adjacent to an old chorioretinal scar is virtually pathognomonic for toxoplasmic chorioretinitis. Focal condensation of vitreous and inflammatory cells may be seen overlying the pale yellow or gray-white raised lesion in the posterior pole.
Symptoms vary from one type of the syndrome to another and from one patient to another, but they include:
- Very pale or brilliantly blue eyes, eyes of two different colors (complete heterochromia), or eyes with one iris having two different colors (sectoral heterochromia)
- A forelock of white hair ("poliosis"), or premature graying of the hair
- Appearance of wide-set eyes due to a prominent, broad nasal root ("dystopia canthorum")—particularly associated with Type I) also known as "telecanthus"
- Moderate to profound hearing loss (higher frequency associated with Type II);
- A low hairline and eyebrows that meet in the middle ("synophrys")
- Patches of white skin pigmentation, in some cases
- Abnormalities of the arms, associated with Type III
- neurologic manifestations, associated with Type IV
- Cleft lip, mostly associated with Type I
Waardenburg syndrome has also been associated with a variety of other congenital disorders, such as intestinal and spinal defects, elevation of the scapula and cleft lip and palate. Sometimes this is concurrent with Hirschsprung disease.
In most patients, optic disc drusen are an incidental finding. It is important to differentiate them from other conditions that present with optic disc elevation, especially papilledema, which could imply raised intracranial pressure or tumors. True papilledema may present with exudates or cotton-wool spots, unlike ODD. The optic disc margins are characteristically irregular in ODD but not blurred as there is no swelling of the retinal nerve fibers. Spontaneous venous pulsations are present in about 80 percent of patients with ODD, but absent in cases of true disc edema. Other causes of disc elevation clinicians must exclude may be: hyaloid traction, epipapillary glial tissue, myelinated nerve fibres, scleral infiltration, vitreopapillary traction and high hyperopia. Disorders associated with disc elevation include: Alagille syndrome, Down syndrome, Kenny-Caffey syndrome, Leber Hereditary Optic Neuropathy and linear nevus sebaceous syndrome.
Melanism related to the process of adaptation is called adaptive. Most commonly, dark individuals become fitter to survive and reproduce in their environment as they are better camouflaged. This makes some species less conspicuous to predators, while others, such as black panthers, use it as a foraging advantage during night hunting. Typically, adaptive melanism is heritable: A dominant gene, which is entirely or nearly entirely expressed in the phenotype, is responsible for the excessive amount of melanin.
Adaptive melanism has been shown to occur in a variety of animals, including mammals such as squirrels, many felines and canids, and coral snakes. Adaptive melanism can lead to the creation of morphs, the most notable example being the peppered moth, whose evolutionary history in the United Kingdom is offered as a classic instructional tool for teaching the principles of natural selection.
Optic nerve damage is progressive and insidious. Eventually 75% of patients will develop some peripheral field defects. These can include nasal step defects, enlarged blind spots, arcuate scotomas, sectoral field loss and altitudinal defects. Clinical symptoms correlate to visibility of the drusen. Central vision loss is a rare complication of bleeding from peripapillar choroidal neovascular membranes. Anterior ischemic optic neuropathy (AION) is a potential complication.
Areas affected are those the cat can access most easily, including the abdomen, legs, flank, and chest.
- Baldness, usually beginning with the abdomen
- Obvious over-grooming (although some cats may only engage in the behavior in the absence of owners)
- Redness, rashes, pus, scabs on the bald area or areas traumatized by over-grooming
- A highly irritable cat may even cut its face with the claw of its hind foot if over-zealously scratching the back of its head.
People with ODD syndrome often have a characteristic appearance. Visible features of the condition include:
- small teeth that are prone to caries because of underdeveloped tooth enamel;
- a long, thin nose;
- unusually small eyes; and
- type III syndactyly of the fourth and fifth fingers.
Iris atrophy and glaucoma are more common than average. The size of the eyes often interferes with learning to read; special eyeglasses may be required. Hair may be fine, thin, dry, or fragile; in some families, it is curly.
Neurologic abnormalities may be seen in adults. The neurologic changes may appear earlier in each subsequent generation and can include abnormal white matter, conductive deafness, and various kinds of paresis, including ataxia, spastic paraplegia, difficulty controlling the eyes, and bladder and bowel disturbances.
Toxoplasma chorioretinitis, more simply known as ocular toxoplasmosis, is probably the most common cause of infections in the back of the eye (posterior segment) worldwide. The causitive agent is "Toxoplasma gondii", and in the United States, most cases are acquired congenitally. The most common symptom is decreased visual acuity in one eye. The diagnosis is made by examination of the eye, using ophthalmoscopy. Sometimes serologic testing is used to rule out the disease, but due to high rates of false positives, serologies are not diagnostic of toxoplasmic retinitis.
If vision is not compromised, treatment may not be necessary. When vision is affected or threatened, treatment consists of pyrimethamine, sulfadiazine, and folinic acid for 4–6 weeks. Prednisone is sometimes used to decrease inflammation.
Aphaeomelanism is the abnormal absence of phaeomelanin from the integumentary system and/or eyes. Phaeomelanin is produced by melanocytes in the absence of melanocortin 1 receptor. This absence is mediated by agouti signalling protein, which antagonizes melanocortin 1 receptor. Loss of function of agouti signalling protein can permit unmediated eumelanin production, producing a uniformly black-to-brown coat color. This condition can be observed in dogs, cats, and horses. The appearance of mammals with recessive agouti mutations is typically dense black. As with aeumelanism, the difference between lack of phaeomelanin and abundance of eumelanin is one of words. Some agouti alleles in mice are associated with health defects, but this is not the case in dogs, cats, or horses.
The term "cat eye" syndrome was coined because of the particular appearance of the vertical colobomas in the eyes of some patients. However, over half of the CES patients in the literature do not present with this trait.