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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
Episodes of major depressive disorder and of suicidal crisis occur in the man afflicted with Dorian Gray syndrome when the defense mechanism activities, the pursuit of eternal youth, fail to indefinitely preserve his handsome face and sculpted physique; usually, anti-depressant drugs and psychotherapy are prescribed and applied to counter his feelings of failure.
Furthermore, if the man misunderstands the self-defensive character of "acting out" the DGS, and continues pursuing the timeless beauty of male youth, without being aware of the psychodynamics of narcissism, then he, as a psychiatric patient, establishes a cycle of chronic psychological depression. In extreme cases of DGS, the man seeks self-destruction, by means either of drugs or with plastic surgery, or both, in order to fill the narcissistic emptiness that is the Dorian Gray syndrome.
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.
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.
In terms of treating the mental aspect of paruresis, such treatment can be achieved by graduated exposure therapy and cognitive behavioral therapy. In graduated exposure therapy, the subject has a trusted person stand outside the restroom at first, and once the fear is overcome the observer is brought closer in, until step by step the phobia is vanquished. The International Paruresis Association provides a detailed discussion of this method on its website.
In addition to gradual exposure therapy, cognitive behavioral therapy is used to change a sufferer's mental approach to the condition, from one of a person who cannot urinate, to a person who can urinate or is not overly fearful when they can't publicly urinate.
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.
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.
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.
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.
Medical management may involve immunosuppressive drugs such as methotrexate, corticosteroids, cyclophosphamide, and azathioprine. No randomized controlled trials have yet been conducted to evaluate such treatments, so the benefits have not been clearly established.
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.
Chloramphenicol therapy should be stopped immediately. Exchange transfusion may be required to remove the drug. Sometimes, phenobarbital (UGT induction) is used.
The condition can be prevented by using chloramphenicol at the recommended doses and monitoring blood levels, or alternatively, third generation cephalosporins can be effectively substituted for the drug, without the associated toxicity.
Treatment for the disease itself is nonexistent, but there are options for most of the symptoms. For example, one suffering from hearing loss would be given hearing aids, and those with Hirschsprung’s disorder can be treated with a colostomy.
Hormonal suppressive therapy with luteinizing hormone receptor agonists like leuprolide can be used to treat the seizure component, and are effective in most patients.
Surgery is offered if there is failure of medical therapy or rapid growth of lesion, with specific options including stereotactic thermocoagulation, gamma knife radiosurgery, and physical resection by transsphenoidal microsurgery. Surgical response is typically better when the seizure focus has been found by EEG to originate in or near the mass. The specific location of the lesion relative to the pituitary and infundibulum and the amount of hormonal disturbance at presentation can help predict risk of hypopituitarism following surgery.
Affected individuals may benefit from autologous fat transfer or fat grafts to restore a more normal contour to the face. However, greater volume defects may require microsurgical reconstructive surgery which may involve the transfer of an island parascapular fasciocutaneous flap or a free flap from the groin, rectus abdominis muscle (Transverse Rectus Abdominis Myocutaneous or "TRAM" flap) or latissimus dorsi muscle to the face. Severe deformities may require additional procedures, such as pedicled temporal fascia flaps, cartilage grafts, bone grafts, orthognathic surgery, and bone distraction. The timing of surgical intervention is controversial; some surgeons prefer to wait until the disease has run its course while others recommend early intervention.
Early and aggressive treatment is important to prevent irreversible neurological damage, hearing loss, or vision loss. Medications used include immunosuppressive agents and corticosteroids such a prednisone, or intravenous immunoglobulins (IVIG). Other drugs that have been used are mycophenolate mofetil (Cellcept), azathioprine (Imuran), cyclophosphamide, rituximab, and anti-TNF therapies.
Hearing aids or cochlear implants may be necessary in the event of hearing loss.
Treatment plans will vary depending on the severity of the condition and its evidences in each patient.
Areas that will probably need to be evaluated and assessed include speech, vision, hearing and EEG. Treatment measures may include physical therapy, occupational therapy, Speech therapy, anti-seizure drugs and orthotic devices. Surgery may be needed to assuage spastic motor problems. Various supportive measures such as joint contractures that could prevent complications.
Genetic counseling may also be recommended
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.
Arabians of "Egyptian" bloodlines have the most documented cases of the disorder, with 10.3% of Egyptian Arabians being carriers, but only 1.8% of non-Egyptian Arabians. Cases reported in peer-reviewed veterinary literature are mostly of foals descended from a number of "Egyptian Arabian" or Egyptian-related bloodline groups, in Australia, a few breeders of Crabbet-related lines have also had foals affected by LFS. Lavender foal syndrome should be considered in any weak newborn Arabian or part-Arabian foal, particularly if it has some degree of "Egyptian" breeding, if the foal cannot stand, if other signs of neurological problems are present, and especially if it has an abnormally light coat color.
Most patients experience an improvement of their symptoms, but for some, OI can be gravely disabling and can be progressive in nature, particularly if it is caused by an underlying condition which is deteriorating. The ways in which symptoms present themselves vary greatly from patient to patient; as a result, individualized treatment plans are necessary.
OI is treated both pharmacologically and non-pharmacologically. Treatment does not cure OI; rather, it controls symptoms.
Physicians who specialize in treating OI agree that the single most important treatment is drinking more than two liters (eight cups) of fluids each day. A steady, large supply of water or other fluids reduces most, and for some patients all, of the major symptoms of this condition. Typically, patients fare best when they drink a glass of water no less frequently than every two hours during the day, instead of drinking a large quantity of water at a single point in the day.
For most severe cases and some milder cases, a combination of medications are used. Individual responses to different medications vary widely, and a drug which dramatically improves one patient's symptoms may make another patient's symptoms much worse. Medications focus on three main issues:
Medications that increase blood volume:
- Fludrocortisone (Florinef)
- Erythropoietin
- Hormonal contraception
Medications that inhibit acetylcholinesterase:
- Pyridostigmine
Medications that improve vasoconstriction:
- Stimulants: (e.g., Ritalin or Dexedrine)
- Midodrine (ProAmatine)
- Ephedrine and pseudoephedrine (Sudafed)
- Theophylline (low-dose)
- Selective serotonin reuptake inhibitors (SSRI's - Prozac, Zoloft, and Paxil)
Behavioral changes that patients with OI can make are:
- Avoiding triggers such as prolonged sitting, quiet standing, warm environments, or vasodilating medications
- Using postural maneuvers and pressure garments
- Treating co-existing medical conditions
- Increasing fluid and salt intake
- Physical therapy and exercise unless contraindicated by an underlying condition such as chronic fatigue syndrome where traditional exercise can worsen the condition
As there is no known cure, Loeys–Dietz syndrome is a lifelong condition. Due to the high risk of death from aortic aneurysm rupture, patients should be followed closely to monitor aneurysm formation, which can then be corrected with interventional radiology or vascular surgery.
Previous research in laboratory mice has suggested that the angiotensin II receptor antagonist losartan, which appears to block TGF-beta activity, can slow or halt the formation of aortic aneurysms in Marfan syndrome. A large clinical trial sponsored by the National Institutes of Health is currently underway to explore the use of losartan to prevent aneurysms in Marfan syndrome patients. Both Marfan syndrome and Loeys–Dietz syndrome are associated with increased TGF-beta signaling in the vessel wall. Therefore, losartan also holds promise for the treatment of Loeys–Dietz syndrome. In those patients in which losartan is not halting the growth of the aorta, irbesartan has been shown to work and is currently also being studied and prescribed for some patients with this condition.
If an increased heart rate is present, atenolol is sometimes prescribed to reduce the heart rate to prevent any extra pressure on the tissue of the aorta. Likewise, strenuous physical activity is discouraged in patients, especially weight lifting and contact sports.
Treatment of any kind of complex visual hallucination requires an understanding of the different pathologies in order to correctly diagnose and treat. If a person is taking a pro-hallucinogenic medication, the first step is to stop taking it. Sometimes improvement will occur spontaneously and pharmacotherapy is not necessary. While there is not a lot of evidence of effective pharmacological treatment, antipsychotics and anticonvulsants have been used in some cases to control hallucinations. Since peduncular hallucinosis occurs due to an excess of serotonin, modern antipsychotics are used to block both dopamine and serotonin receptors, preventing the overstimulation of the lateral geniculate nucleus. The drug generically called carbamazepine increases GABA, which prevents the LGN from firing, thereby increasing the inhibition of the LGN. Regular antipsychotics as well as antidepressants can also be helpful in reducing or eliminating peduncular hallucinosis.
More invasive treatments include corrective surgery such as cataract surgery, laser photocoagulation of the retina, and use of optical correcting devices. Tumor removal can also help to relieve compression in the brain, which can decrease or eliminate peduncular hallucinosis. Some hallucinations may be due to underlying cardiovascular disease, so in these cases the appropriate treatment includes control of hypertension and diabetes. As described, the type of treatment varies widely depending on the causation behind the complex visual hallucinations.
Platelet storage pool deficiency has no treatment however management consists of antifibrinolytic medications if the individual has unusual bleeding event, additionally caution should be taken with usage of NSAIDS
There is no cure for Menkes disease. Early treatment with injections of copper supplements (in the form of acetate salts) may be of some slight benefit. Among 12 newborns who were diagnosed with MNK, 92% were alive at age 4.6. Other treatment is symptomatic and supportive. Treatments to help relieve some of the symptoms includes, pain medication, anti-seizure medication, feeding tube when necessary, and physical and occupational therapy.