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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
The Dorian Gray syndrome (DGS) denotes a cultural and societal phenomenon characterized by a man's extreme pride in his personal appearance and the fitness of his physique, which is accompanied by difficulties in coping with the requirements of psychological maturation and with the aging of his body.
The DGS is characterized by a triad of symptoms that overlap, and so combine diagnostic signs of dysmorphophobia, narcissistic character traits, and the immaturity of arrested development, which often are found in paraphilias.
To preserve ephemeral youth, the man afflicted with DGS tends to consume cosmetic products and services, hair-restoration procedures, anti-impotence drugs, and cosmetic surgery; hence, he might resist the psychosomatic and psychodynamic explanations of the syndrome. The term "Dorian Gray syndrome" refers to the protagonist of the novel "The Picture of Dorian Gray" (1891), an exceptionally handsome man whose hedonism and excessive self-love proved detrimental to the personal, social, and emotional aspects of his life, and who sought to escape the ravages of time and his own decadent lifestyle by having a supernatural portrait of himself age in his place.
The diagnostic criteria for Dorian Gray syndrome are:
- Signs of dysmorphophobia
- Arrested development (inability to mature)
- Using at least two different medical-lifestyle products and services:
- Hair-growth restoration (e.g. finasteride)
- Antiadiposita to lose weight (e.g. orlistat)
- Anti-impotence drugs (e.g. sildenafil)
- Anti-depressant drugs (e.g. fluoxetine)
- Cosmetic dermatology (e.g. laser resurfacing)
- Cosmetic surgery (e.g. a face-lift, liposuction)
Paruresis ( ) is a type of phobia in which the sufferer is unable to urinate in the real or imaginary presence of others, such as in a public restroom. The analogous condition that affects bowel movement is called parcopresis.
It appears that paruresis involves a tightening of the sphincter and/or bladder neck due to a sympathetic nervous system response. The adrenaline rush that produces the involuntary nervous system response probably has peripheral and central nervous system involvement. The internal urethral sphincter (smooth muscle tissue) or the external urethral sphincter (striated muscle), levator ani (especially the pubococcygeus) muscle area, or some combination of the above, may be involved. It is possible that there is an inhibition of the detrusor command through a reflex pathway as well. The pontine micturition center (Barrington's nucleus) also may be involved, as its inhibition results in relaxation of the detrusor and prevents the relaxation of the internal sphincter.
Trichomegaly is a congenital condition in which the eyelashes are abnormally long, greater than 12mm in the central area and 8mm in the peripheral. The term was first used by H. Gray in 1944 in a publication in the Stanford Medical Bulletin, though he was only the third person to characterize the disorder; the first two reports were published in German in 1926 and 1931 by Reiter and Bab, respectively. Gray suggested the use of the term "movie lashes" to describe this condition, for long lashes were at the time being portrayed in film as a desirable characteristic in women.
There are several causal agents for this disorder; these can be divided into three main categories and include the following:
The Fregoli delusion, or the delusion of doubles, is a rare disorder in which a person holds a delusional belief that different people are in fact a single person who changes appearance or is in disguise. The syndrome may be related to a brain lesion and is often of a paranoid nature, with the delusional person believing themselves persecuted by the person they believe is in disguise.
A person with the Fregoli delusion can also inaccurately recall places, objects, and events. This disorder can be explained by "associative nodes". The associative nodes serve as a biological link of information about other people with a particular familiar face (to the patient). This means that for any face that is similar to a recognizable face to the patient, the patient will recall that face as the person they know.
The Fregoli delusion is classed both as a monothematic delusion, since it only encompasses one delusional topic, and as a delusional misidentification syndrome (DMS), a class of delusional beliefs that involves misidentifying people, places, or objects. Like Capgras delusion, psychiatrists believe it is related to a breakdown in normal face perception.
Once it has been positively identified, pharmacotherapy follows. Antipsychotic drugs are the frontrunners in treatment for Fregoli and other DMSs. In addition to antipsychotics, anticonvulsants and antidepressants are also prescribed in some treatment courses. If a Fregoli patient has other psychological disorders, treatment often results in the use of trifluoperazine.
Cross–McKusick–Breen syndrome (also known as "Cross syndrome", "hypopigmentation and microphthalmia", and "oculocerebral-hypopigmentation syndrome") is an extremely rare disorder characterized by white skin, blond hair with yellow-gray metallic sheen, small eyes with cloudy corneas, jerky nystagmus, gingival fibromatosis and severe mental and physical retardation.
It was characterized in 1967.
Parents of a proband
- The parents of an affected individual are obligate heterozygotes and therefore carry one mutant allele.
- Heterozygotes (carriers) are asymptomatic.
Sibs of a proband
- At conception, each sibling of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.
- Once an at-risk sibling is known to be unaffected, the risk of his/her being a carrier is 2/3.
- Heterozygotes (carriers) are asymptomatic.
Offspring of a proband
- Offspring of a proband are obligate heterozygotes and will therefore carry one mutant allele.
- In populations with a high rate of consanguinity, the offspring of a person with GPR56-related BFPP and a reproductive partner who is a carrier of GPR56-related BFPP have a 50% chance of inheriting two GPR56 disease-causing alleles and having BFPP and a 50% chance of being carriers.
Other family members of a proband.
- Each sibling of the proband's parents is at a 50% risk of being a carrier
Parry–Romberg syndrome appears to occur randomly and for unknown reasons. Prevalence is higher in females than males, with a ratio of roughly 3:2. The condition is observed on the left side of the face about as often as on the right side.
The fact that some people affected with this disease have circulating antinuclear antibodies in their serum supports the theory that Parry–Romberg syndrome may be an autoimmune disease, specifically a variant of localized scleroderma. Several instances have been reported where more than one member of a family has been affected, prompting speculation of an autosomal dominant inheritance pattern. However, there has also been at least one report of monozygotic twins in which only one of the twins was affected, casting doubt on this theory. Various other theories about the cause and pathogenesis have been suggested, including alterations in the peripheral sympathetic nervous system (perhaps as a result of trauma or infection involving the cervical plexus or the sympathetic trunk), as the literature reported it following sympathectomy, disorders in migration of cranial neural crest cells, or chronic cell-mediated inflammatory process of the blood vessels. It is likely that the disease results from different mechanisms in different people, with all of these factors potentially being involved.
If the Hirschsprung's disease is treated in time, ABCD sufferers live otherwise healthy lives. If it is not found soon enough, death often occurs in infancy. For those suffering hearing loss, it is generally regressive and the damage to hearing increases over time. Digestive problems from the colostomy and reattachment may exist, but most cases can be treated with laxatives. The only other debilitating symptom is hearing loss, which is usually degenerative and can only be treated with surgery or hearing aids.
Metabolic studies are useful, but they are not able identify neural activity within a specific region to specific cognitive processes. Functionality can only be identified at the most general level: Metabolism in cortical and subcortical regions that may contribute to cognitive processes.
At present, there is no established relation between cerebral metabolic rates of glucose or oxygen as measured by PET and patient outcome. The decrease of cerebral metabolism occurs also when patients are treated with anesthetics to the point of unresponsiveness. Lowest value (28% of normal range) have been reported during propofol anesthesia. Also deep sleep represents a phase of decreased metabolism (down to 40% of the normal range)
In general, quantitative PET studies and the assessment of cerebral metabolic rates depends on many assumptions.
PET for example requires a correction factor, the lumped constant, which is stable in healthy brains. There are reports, that a global decrease of this constant emerges after a traumatic brain injury.
But not only the correction factors change due to TBI.
Another issue is the possibility of anaerobic glycolysis that could occur after TBI. In such a case the glucose levels measured by the PET are not tightly connected to the oxygen consumption of the patient's brain.
Third point regarding PET scans is the overall measurement per unit volume of brain tissue. The imaging can be affected by the inclusion of metabolically inactive spaces e.g. cerebrospinal fluidin the case of gross hydrocephalus, which artificially lowers the calculated metabolism.
Also the issue of radiation exposure must be considered in patients with already severely damaged brains and preclude longitudinal or follow-up studies.
Symptoms of OI are triggered by the following:
- An upright posture for long periods of time (e.g. standing in line, standing in a shower, or even sitting at a desk).
- A warm environment (such as in hot summer weather, a hot crowded room, a hot shower or bath, after exercise).
- Emotionally stressful events (seeing blood or gory scenes, being scared or anxious).
- Astronauts returning from space not yet re-adapted to gravity.
- Extended bedrest
- Inadequate fluid and salt intake.
ABCD syndrome is the acronym for albinism, black lock, cell migration disorder of the neurocytes of the gut, and sensorineural deafness. It has been found to be caused by mutation in the endothelin B receptor gene (EDNRB).
Lavender foal syndrome (LFS), also called coat color dilution lethal (CCDL), is an autosomal recessive genetic disease that affects newborn foals of certain Arabian horse bloodlines. Affected LFS foals have severe neurological abnormalities, cannot stand, and require euthanasia shortly after birth. The popular name originates due to a diluted color of the foals coat, that in some cases appears to have a purple or lavender hue. However, not all foals possess the lavender coat colour, colouring can range from silver to light chestnut to a pale pink. Carrier horses have no clinical signs and DNA testing can determine if a horse carries the gene.
Disorders of consciousness are medical conditions that inhibit consciousness. Some define disorders of consciousness as any change from complete self-awareness to inhibited or absent self-awareness and arousal. This category generally includes minimally conscious state and persistent vegetative state, but sometimes also includes the less severe locked-in syndrome and more severe but rare chronic coma. Differential diagnosis of these disorders is an active area of biomedical research. Finally, brain death results in an irreversible disruption of consciousness. While other conditions may cause a moderate deterioration (e.g., dementia and delirium) or transient interruption (e.g., grand mal and petit mal seizures) of consciousness, they are not included in this category.
The condition has been recognized since the mid- to late-1950s.
Research into the genetics of LFS has been conducted at the University of California, Davis and Cornell University in the United States, the University of Queensland in Australia, and the University of Pretoria in South Africa. In November, 2009, Cornell University announced a DNA test has been developed to detect carriers of LFS. Simultaneously, the University of Pretoria also announced they had developed a DNA test. Testing is now available at Cornell, Pretoria, and Queensland, Australia.
One European study reported a rate of 1 in 254,000; a Japanese study reported a rate of 1 in 357,143. No correlation with other inherited characteristics, or with ethnic origin, is known.
Gray platelet syndrome (GPS), or platelet alpha-granule deficiency, is a rare congenital autosomal recessive bleeding disorder caused by a reduction or absence of alpha-granules in blood platelets, and the release of proteins normally contained in these granules into the marrow, causing myelofibrosis.
GPS is primarily inherited in an autosomal recessive manner, and the gene that is mutated in GPS has recently been mapped to chromosome 3p and identified as "NBEAL2". "NBEAL2" encodes a protein containing a BEACH domain that is predicted to be involved in vesicular trafficking. It is expressed in platelets and megakaryocytes and is required for the development of platelet alpha-granules. "NBEAL2" expression is also required for the development of thrombocytes in zebrafish.
GPS is characterized by "thrombocytopenia, and abnormally large agranular platelets in peripheral blood smears." The defect in GPS is the failure of megakaryocytes to package secretory proteins into alpha-granules. Patients with the GPS are affected by mild to moderate bleeding tendencies. Usually these are not major bleeds but there has been some life threatening cases. Also Women will tend to have heavy, irregular periods. Myelofibrosis is a condition that usually comes with the Gray Platelet syndrome.
Orthostatic intolerance (OI) is the development of symptoms when standing upright which are relieved when reclining. There are many types of orthostatic intolerance. OI can be a subcategory of dysautonomia, a disorder of the autonomic nervous system occurring when an individual stands up.
There is a substantial overlap between syndromes of orthostatic intolerance on the one hand, and either chronic fatigue syndrome (CFS) or fibromyalgia (FM) on the other. It affects more women than men (female-to-male ratio is at least 4:1), usually under the age of 35.
Orthostatic intolerance occurs in humans because standing upright is a fundamental stressor and requires rapid and effective circulatory and neurologic compensations to maintain blood pressure, cerebral blood flow, and consciousness. When a human stands, approximately 750 mL of thoracic blood is abruptly translocated downward. People who suffer from OI lack the basic mechanisms to compensate for this deficit. Changes in heart rate, blood pressure, and cerebral blood flow that produce OI may be caused by abnormalities in the interactions between blood volume control, the cardiovascular system, the nervous system and circulation control system.
The prognosis of this developmental disorder is highly based on the underlying disorder. Cerebellar hypoplasia may be progressive or static in nature. Some cerebellar hypoplasia resulting from congenital brain abnormalities/malformations are not progressive. Progressive cerebellar hypoplasia is known for having poor prognosis, but in cases where this disorder is static, prognosis is better.
Platelet storage pool deficiency is a type of coagulopathy characterized by defects in the granules in platelets, particularly a lack of granular non-metabolic ADP. Individuals with ADP deficient "storage pool disease" present a prolonged bleeding time due to impaired aggregation response to fibrillar collagen.
Susac's syndrome is named for Dr. John Susac (1940–2012), of Winter Haven, Florida, who first described it in 1979. Susac's syndrome is a very rare disease, of unknown cause, and many persons who experience it do not display the bizarre symptoms named here. Their speech can be affected, such as the case of a female of late teens who suffered speech issues and hearing problems, and many experience unrelenting and intense headaches and migraines, some form of hearing loss, and impaired vision. The problem usually corrects itself, but this can take up to five years. In some cases, subjects can become confused. The syndrome usually affects women around the age of 18 years, with female to male ratio of cases of 2:1.
William F. Hoyt was the first to call the syndrome "Susac syndrome" and later Robert Daroff asked Dr. Susac to write an editorial in Neurology about the disorder and to use the eponym of Susac syndrome in the title, forever linking this disease with him.