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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
Clinical lycanthropy is defined as a rare psychiatric syndrome that involves a delusion that the affected person can transform into, has transformed into, or is a non-human animal. Its name is associated with the mythical condition of lycanthropy, a supernatural affliction in which humans are said to physically shapeshift into wolves. It is purported to be a rare disorder.
In rare cases, individuals may believe that other people have transformed into animals. This has been termed "lycanthropic intermetamorphosis" and "lycanthropy spectrum". A 2009 study reported that, after the consumption of the drug MDMA (Ecstasy), a man displayed symptoms of paranoid psychosis by claiming that his relatives had changed into various animals such as a boar, a donkey and a horse.
"Species dysphoria" is informally used mainly in psychological literature to compare the experiences of some individuals to those in the transgender community. Otherkin and therian communities have also used it to describe their experiences.
In a 2008 study by Gerbasi "et al.", 46% of people surveyed who identified as being in the furry fandom, (usually defined as a person who enjoys anthropomorphic animals, occasionally to an almost obsessive degree), answered "yes" to the question "Do you consider yourself to be less than 100% human?" and 41% answered "yes" to the question "If you could become 0% human, would you?" Questions that Gerbasi states as being deliberately designed to draw parallels with gender dysphoria, specifying "a persistent feeling of discomfort" about the human body and the feeling that the person was the "non-human species trapped in a human body", were answered "yes" by 24% and 29% of respondents, respectively. Likewise, these studies support the fact that the therianthropic, otherkin and furry communities are very similar in nature and are often interconnected.
As described by those who experience it, species dysphoria may include sensations of supernumerary phantom limbs associated with the species, such as phantom wings or claws. Species dysphoria involves feelings of being an animal or other creatures "trapped in" a human body and so, is considered different from the traditional definition of clinical lycanthropy, in which the patient believes they have actually been transformed into an animal or have the ability to physically shapeshift. However, some cases that have been labeled as "clinical lycanthropy" actually seem to be cases of species dysphoria, involving persons who have no delusion of transformation but instead have feelings of being in some way a non-human animal, while still acknowledging they possess a human form. Keck "et al." propose a redefinition for clinical lycanthropy that covers species dysphoric behaviours observed in several patients, including verbal reports, "during intervals of lucidity or retrospectively, that he or she was a particular animal" and behaving "in the manner of a particular animal, i.e. howling, growling, crawling on all fours". Keck "et al." describe one patient as a depressed individual who "had always suspected he was a cat" and "laments his lack of fur, stripes and a tail". Except for the persistent feeling of being feline, the patient's "thought processes and perception" were "usually logical".
Involutional melancholia is classically treated with antidepressants and mood elevators.
Electroconvulsive therapy may also be used. Mid-century, there was a consensus that the technique indeed 'yields the best results in the long-lasting depressions of the change of life, the so-called "involutional melancholias", which before this form of treatment was introduced often required years of hospitalization'. The 21st century also records 'an excellent and rapid clinical response found in melancholia of recent onset...in older rather than younger patients' with ECT
Clinical vampirism, more commonly called Renfield's syndrome or Renfield syndrome, is an obsession with drinking blood. The earliest formal presentation of clinical vampirism to appear in the psychiatric literature, with the psychoanalytic interpretation of two cases, was contributed by Richard L. Vanden Bergh and John F. Kelley in 1964. As the authors point out, brief and sporadic reports of blood-drinking behaviors associated with sexual pleasure have appeared in the psychiatric literature at least since 1892 with the work of Austrian forensic psychiatrist Richard von Krafft-Ebing. Many medical publications concerning clinical vampirism can be found in the literature of forensic psychiatry, with the unusual behavior reported as one of many aspects of extraordinary violent crimes. The behavior has never gained official recognition by the psychiatric profession and is not found in any edition of the "International Classification of Diseases" or the "Diagnostic and Statistical Manual of Mental Disorders".
Species dysphoria is the experience of dysphoria, sometimes including clinical lycanthropy (delusion or hallucination of one's self as an animal) and dysmorphia (excessive concern over one's body image), associated with the feeling that one's body is of the wrong species. Earls and Lalumière (2009) describe it as "the sense of being in the wrong (species) body... a desire to be an animal". Outside of psychological literature, the term is common within the otherkin and therian communities. The phenomenon is sometimes experienced in the context of sexual arousal to the image of one's self as an animal.
Involutional melancholy's 'course was chronic, with agitation, depersonalization and delusions of bodily change and guilt' featuring strongly, but 'without manic features'. Symptoms of fear are also considered to occur, as well as despondency and hypochondriacal delusions. The late onset of the disorder was matched with a prolonged course with poor prognosis and/or deterioration, in the absence of treatment.
Cynanthropy (sometimes spelled "kynanthropy") is, in medicine, the pathological delusion of real persons that they are dogs and in anthropology and folklore, the supposed magical practice of shape-shifting alternately between canine and human form, or the possession of combined canine and human anatomical features, a form of therianthropy.
The Greeks spoke of cynanthropy ("kyon", dog). The term existed by at least 1901, when it was applied to myths from China about humans turning into dogs, dogs becoming people, and sexual relations between humans and canines (De Groot, 184). After lycanthropy, cynanthropy is the best known term for a specific variety of therianthropy.
Anthropologist David Gordon White called Central Asia the "vortex of cynanthropy" because races of dog-men were habitually placed there by ancient writers. Hindu mythology puts races of "Dog Cookers" to the far north of India, the Chinese placed the "Dog Jung" and other human/canine barbarians to the extreme west, and European legends frequently put the dog men called Cynocephali in unmapped regions to the east. Some of these races were described as humans with dog heads, others as canine shapeshifters (White, 114-15).
The weredog or cynanthrope is also known in Timor. It is described as a human/canine shapeshifter who is also capable of transforming other people into animals against their wills. These transformations are usually into prey animals such as goats, so that the cynanthrope can devour them without discovery of the crime (Rose, 390).
Somatic manifestations of MD are distinguished by an extreme diversity and include headaches, back pain, abdominal pain etc. Pathological behaviour masking depression may take the form of compulsive gambling, compulsive work, changes in arousal or orgasmic function, decreased libido or, on the contrary, impulsive sexual behaviour, alcoholism, drug addiction and more.
Very few cases of the syndrome have been described, and the published reports that do exist describe clinical vampirism as behaviors that are subsumed under more conventional psychiatric diagnostic categories such as schizophrenia or paraphilia. A case of vampirism in Turkey reported in 2012 was discussed as an unusual feature of a patient diagnosed with dissociative identity disorder and post-traumatic stress disorder. While not referencing the literature on Renfield's syndrome, two Irish psychiatrists surveyed the psychiatric literature on vampirism as evidence of a changing discourse in psychiatry from the narrative of case studies to the depersonalized discourse of checklist diagnostic criteria.
A number of murderers have performed seemingly vampiric rituals upon their victims. Serial killers Peter Kürten and Richard Trenton Chase were both called "vampires" in the tabloids after they were discovered drinking the blood of the people they murdered. Similarly, in 1932, an unsolved murder case in Stockholm, Sweden was nicknamed the "Vampire murder", due to the circumstances of the victim's death.Clinical vampirism in the context of criminal acts of violence, as well as "consensual" vampirism as a social ritual, have been extensively documented in the many works of Katharine Ramsland. Others have commented upon the psychiatric implications of "vampire cults" among adolescents.
MD is supposed to be a common clinical phenomenon. According to some authors, masked depression is as frequent as overt depression. Although masked depression can be found at any age, it has been observed more commonly after mid-life.
Making the diagnosis and the management of MD in clinical practice are complicated by the fact that he who has got MD is unaware of his mental illness.
Patients with MD are reluctant to associate their physical symptoms with an affective disorder and refuse mental health care. As a rule, these patients attribute their disturbances to physical illness, seek medical care for them, and report only somatic complaints to their physicians, with the consequence that many of such depressions are not recognized or are misdiagnosed and mistreated Estimates of depressed patients who are correctly identified and treated range from 5% to 60%. Recent data show that about 10% of people who consult a physician for any reason originally suffer from affective disorders disguised by physical symptoms.
The condition may worsen as a result of persistent attempts to treat the symptoms through conventional methods of dealing with insomnia. The prescription of hypnotics or stimulants may lead to drug dependency as a complication.
Nonetheless, chronic SSM may increase risk for depression, anxiety, and substance abuse. It has also been noted that patients with this condition may sometimes opt to take medications over other treatments "for the wrong reasons (e.g. because of euphoriant properties)."
Behavioral treatment can be effective in some cases. Sedative hypnotics may also help relieve the symptoms. Additionally, education about normal patterns of the sleep-wake cycle may alleviate anxiety in some patients. For patients with severe depression resulting from the fear of having insomnia, electroconvulsive therapy appears to be a safe and effective treatment.
MCI does not usually interfere with daily life, but around 50 percent of people diagnosed with it go on to develop the far more severe Alzheimer's disease within five years. However, some instances of MCI may simply remain stable over time or even remit.
there are no USFDA-approved medications for the treatment of mild cognitive impairment. Moreover, as of January 2018, there is no high-quality evidence that supports the efficacy of any pharmaceutical drugs or dietary supplements for improving cognitive symptoms in individuals with mild cognitive impairment. A moderate amount of high-quality evidence supports the efficacy of regular physical exercise for improving cognitive symptoms in individuals with MCI. The clinical trials that established the efficacy of exercise therapy for MCI involved twice weekly exercise over a period of six months. A small amount of high-quality evidence supports the efficacy of cognitive training for improving some measures of cognitive function in individuals with mild cognitive impairment. Due to the heterogeneity among studies which assessed the effect of cognitive training in individuals with MCI, there are no particular cognitive training interventions that have been found to provide greater symptomatic benefits for MCI relative to other forms of cognitive training.
The American Academy of Neurology's (AAN) clinical practice guideline on mild cognitive impairment from January 2018 stated that clinicians "should" identify modifiable risk factors in individuals with MCI, assess functional impairments, provide treatment for any behavioral or neuropsychiatric symptoms, and monitor the individual's cognitive status over time. It also stated that medications which cause cognitive impairment "should" be discontinued or avoided if possible. Due to the lack of evidence supporting the efficacy of cholinesterase inhibitors in individuals with MCI, the AAN guideline stated that clinicians who choose to prescribe them for the treatment of MCI "must" inform patients about the lack of evidence supporting this therapy. The guideline also indicated that clinicians "should" recommend that individuals with MCI engage in regular physical exercise for cognitive symptomatic benefits; clinicians "may" also recommend cognitive training, which appears to provide some symptomatic benefit in certain cognitive measures.
As MCI may represent a prodromal state to clinical Alzheimer's disease, treatments proposed for Alzheimer's disease, such as antioxidants and cholinesterase inhibitors, could potentially be useful; however, there is no evidence to support the efficacy of cholinesterase inhibitors for the treatment of mild cognitive impairment. Two drugs used to treat Alzheimer's disease have been assessed for their ability to treat MCI or prevent progression to full Alzheimer's disease. Rivastigmine failed to stop or slow progression to Alzheimer's disease or to improve cognitive function for individuals with mild cognitive impairment; donepezil showed only minor, short-term benefits and was associated with significant side effects.
In a two-year randomized trial of 168 people with MCI given either high-dose vitamins or placebo, vitamins cut the rate of brain shrinkage by up to half. The vitamins were the three B vitamins folic acid, vitamin B6, and vitamin B12, which inhibit production of the amino acid homocysteine. High blood levels of homocysteine are associated with increased risk of cognitive decline, dementia, and cardiovascular disease. A single study from 2012 showed a possible connection between macronutrient intake and development of MCI. It is also suggested that a dietary pattern with relatively high caloric intake from carbohydrates and low caloric intake from fat and proteins may increase the risk of MCI or dementia in elderly persons
Experimental non-pharmacological treatments for MCI include transcranial magnetic stimulation and transcranial direct current stimulation; the efficacy of these interventions for the treatment of MCI has not yet been established.
In examining the published studies on opioid-induced hyperalgesia (OIH), Reznikov "et al" criticize the methodologies employed on both humans and animals as being far-removed from the typical regimen and dosages of pain patients in the real world. They also note that some OIH studies were performed on drug addicts in methadone rehabilitation programs, and that such results are very difficult to generalize and apply to medical patients in chronic pain. In contrast, a study of 224 chronic pain patients receiving 'commonly-used' doses of oral opioids, in more typical clinical scenarios, found that the opioid-treated patients actually experienced no difference in pain sensitivity when compared to patients on non-opioid treatments. The authors conclude that opioid-induced hyperalgesia may not be an issue of any significance for normal, medically-treated chronic pain patients at all.
Opioid-induced hyperalgesia has also been criticized as overdiagnosed among chronic pain patients, due to poor differential practice in distinguishing it from the much more common phenomenon of opioid tolerance. The misdiagnosis of common opioid tolerance (OT) as opioid-induced hyperalgesia (OIH) can be problematic as the clinical actions suggested by each condition can be contrary to each other. Patients misdiagnosed with OIH may have their opioid dose mistakenly decreased (in the attempt to counter OIH) at times when it is actually appropriate for their dose to be increased or rotated (as a counter to opioid tolerance).
The suggestion that chronic pain patients who are diagnosed as experiencing opioid-induced hyperalgesia ought to be completely withdrawn from opioid therapy has also been met with criticism. This is not only because of the uncertainties surrounding the diagnosis of OIH in the first place, but because of the viability of rotating the patient between different opioid analgesics over time. Opioid rotation is considered a valid alternative to the reduction or cessation of opioid therapy, and multiple studies demonstrate the rotation of opioids to be a safe and effective protocol.
Heterogeneous medical condition in medicine are those medical conditions which have several etiologies, like hepatitis or diabetes. Medical conditions are normally defined pathologically (liver inflammation) or clinically (excessive urination) and not etiologically, and therefore it is normal to have more than one cause for them. The word is used as an opposition to homogeneous, meaning that given a group of patients, the disease is the same for all of them.
When a condition is heterogeneous, it is normally divided in endotypes.
The progression of symptoms varies widely between each case of FXTAS; the onset of symptoms may be gradual, with progression of the disease spanning multiple years or decades. Alternatively, symptoms may progress rapidly.
FXTAS has shown strong age-dependent penetrance, afflicting older permutation carriers with greater prevalence. Male carriers, age 50 and above have a 30% chance of acquiring FXTAS, while male carriers, age 75 and above, have a 75% chance of developing FXTAS. While initially described to affect male carriers, female carriers of the FMR1 gene mutation have also been found to develop FXTAS. However, due to X-inactivation, female carriers are much less likely to develop classic ataxia and tremor signs for FXTAS, instead demonstrating symptoms such as fibromyalgia, thyroid disease, hypertension, and seizures.
The medical management of FXTAS aims to reduce the level of disability and minimize symptoms. Presently, there are many gaps in the research on the management of FXTAS, as the disorder was first described in the literature in 2001. There is no treatment modality aimed at reversing the pathogenesis of FXTAS. However, there are a variety of drug therapies that are being utilized in the management of FXTAS symptoms, although there is a lack of randomized control trials assessing the efficacy these therapies and support is limited to anecdotal evidence. Therefore, many of the treatments are based on what has been helpful in disorders with similar clinical presentations.
There is no cure for FXTAS. Current treatment includes medications for alleviating symptoms of tremor, ataxia, mood changes, anxiety, cognitive decline, dementia, neuropathic pain, or fibromyalgia. Neurological rehabilitation has not been studied for patients with FXTAS but should also be considered as a possible form of therapy. Additionally, occupational and physical therapy may help to improve performance of functional tasks.
Treatment of opioid tolerance and Opioid-Induced Hyperalgesia (OIH) differs but it may be difficult to differentiate these two conditions in a clinical setting where most pain assessments are done through simple scale scores. The treatment for OIH may be challenging because an inadequate number of quality studies exists possibly due to the complexity in diagnosis of OIH and challenges in working with patients on chronic opioids. Currently there is no single best treatment method for OIH and clinicians are advised to choose an appropriate therapy based on the unique clinical scenario and history of each patient.
One general treatment option is to reduce or discontinue the dose of opioid to see if OIH is improved. Opioid sparing or opioid switching, which is replacing the current opioid with another pharmacological agent such as morphine or methadone, has been reported to be effective in some studies but this may also increase the sensitivity to pain according to some case reports. Ketamine, a NMDA antagonist, has been shown to prevent the extended use of opioid in post-operative hyperalgesia when it is infused in a small amount perioperatively along with the opioid but there are also studies that show ketamine being ineffective in modulating hyperalgesia. Addition of the NSAID, especially some COX-2 inhibitors, or acetaminophen is also suggested as a possible treatment option.
An endotype is a subtype of a condition, which is defined by a distinct functional or pathobiological mechanism. This is distinct from a phenotype, which is any observable characteristic or trait of a disease, such as morphology, development, biochemical or physiological properties, or behavior, without any implication of a mechanism. It is envisaged that patients with a specific endotype present themselves within phenotypic clusters of diseases.
One example is asthma, which is considered to be a syndrome, consisting of a series of endotypes. This is related to the concept of disease entity
In terms of beta-mannosidosis treatment there is none currently, individuals that exhibit muscle weakness or seizures are treated based on the symptoms(since there's no cure)
There is currently no therapy or cure for MLD in late infantile patients displaying symptoms, or for juvenile and adult onset with advanced symptoms. These patients typically receive clinical treatment focused on pain and symptom management.
Pre-symptomatic late infantile MLD patients, as well as those with juvenile or adult MLD that are either presymptomatic or displaying mild symptoms, can consider bone marrow transplantation (including stem cell transplantation), which may slow down progression of the disease in the central nervous system. However, results in the peripheral nervous system have been less dramatic, and the long-term results of these therapies have been mixed. Recent success has involved stem cells being taken from the bone marrow of children with the disorder and infecting the cells with a retro-virus, replacing the stem cells' mutated gene with the repaired gene before re-injecting it back into the patient where they multiplied. The children by the age of five were all in good condition and going to kindergarten when normally by this age, children with the disease can not even speak.
Several therapy options are currently being investigated using clinical trials primarily in late infantile patients. These therapies include gene therapy, enzyme replacement therapy (ERT), substrate reduction therapy (SRT), and potentially enzyme enhancement therapy (EET).
A team of international researchers and foundations gathered in 2008 to form an international MLD Registry to create and manage a shared repository of knowledge, including the natural history of MLD. This consortium consisted of scientific, academic and industry resources. This registry never became operational.
As of June 2014 (the latest update on HFM in GeneReviews) a total of 32 families had been reported with a clinical diagnosis of HFM of which there was genotypic confirmation in 24 families. Since then, another two confirmed cases have been reported and an additional case was reported based on a clinical diagnosis alone. Most cases emerge from consanguineous parents with homozygous mutations. There are three instances of HFM from non-consanguineous parents in which there were heterozygous mutations. HFM cases are worldwide with mostly private mutations. However, a number of families of Puerto Rican ancestry have been reported with a common pathogenic variant at a splice receptor site resulting in the deletion of exon 3 and the absence of transport function. A subsequent population-based study of newborn infants in Puerto Rico identified the presence of the same variant on the island. Most of the pathogenic variants result in a complete loss of the PCFT protein or point mutations that result in the complete loss of function. However, residual function can be detected with some of the point mutants.
Often no treatment is required. However, as porcine cytomegalovirus is a herpes virus it remains latent and sheds at times of stress. Therefore husbandry measures to minimise stress levels should be in place.