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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
Currently, purine replacement via S-adenosylmethionine (SAM) supplementation in people with Arts syndrome appears to improve their condition. This suggests that SAM supplementation can alleviate symptoms of PRPS1 deficient patients by replacing purine nucleotides and open new avenues of therapeutic intervention. Other non-clinical treatment options include educational programs tailored to their individual needs. Sensorineural hearing loss has been treated with cochlear implantation with good results. Ataxia and visual impairment from optic atrophy are treated in a routine manner. Routine immunizations against common childhood infections and annual influenza immunization can also help prevent any secondary infections from occurring.
Regular neuropsychological, audiologic, and ophthalmologic examinations are also recommended.
Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutation in the family is known.
Arts syndrome follows an X-linked inheritance. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell sometimes causes features of the disorder; in other cases, these females do not experience any symptoms. In the small number of Arts syndrome cases that have been identified, affected individuals have inherited the mutation from a mother who carries an altered copy of the PRPS1 gene. If the mother is a carrier, the chance of transmitting the "PRPS1" mutation in each pregnancy is 50%. Males who inherit the mutation will be affected; females who inherit the mutation will be carriers and may or may not be mildly affected. Males with Arts syndrome do not reproduce.
Charcot-Marie-Tooth disease-5, Arts syndrome and X-linked nonsyndromic sensorineural deafness present three clinically distinct but genetically allelic disorders, caused by reduced phosphoribosylpyrophosphate synthetase 1 (PRS1) activity due to PRPS1 mutations. Only three families with CMTX5 and two families Arts syndrome, respectively, have been reported worldwide so far. Thus, evidence is still rare whether these two disorders are separate entities, or rather clusters on a phenotypic continuum of PRPS1-related disease.
There is increasing evidence that the harmful products of tobacco smoking may damage the testicles and kill sperm, but their effect on male fertility is not clear. Some governments require manufacturers to put warnings on packets. Smoking tobacco increases intake of cadmium, because the tobacco plant absorbs the metal. Cadmium, being chemically similar to zinc, may replace zinc in the DNA polymerase, which plays a critical role in sperm production. Zinc replaced by cadmium in DNA polymerase can be particularly damaging to the testes.
Pre-testicular factors refer to conditions that impede adequate support of the testes and include situations of poor hormonal support and poor general health including:
- Hypogonadotropic hypogonadism due to various causes
- Obesity increases the risk of hypogonadotropic hypogonadism. Animal models indicate that obesity causes leptin insensitivity in the hypothalamus, leading to decreased Kiss1 expression, which, in turn, alters the release of gonadotropin-releasing hormone (GnRH).
- Undiagnosed and untreated coeliac disease (CD). Coeliac men may have reversible infertility. Nevertheless, CD can present with several non-gastrointestinal symptoms that can involve nearly any organ system, even in the absence of gastrointestinal symptoms. Thus, the diagnosis may be missed, leading to a risk of long-term complications. In men, CD can reduce semen quality and cause immature secondary sex characteristics, hypogonadism and hyperprolactinaemia, which causes impotence and loss of libido. The giving of gluten free diet and correction of deficient dietary elements can lead to a return of fertility. It is likely that an effective evaluation for infertility would best include assessment for underlying celiac disease, both in men and women.
- Drugs, alcohol
- Strenuous riding (bicycle riding, horseback riding)
- Medications, including those that affect spermatogenesis such as chemotherapy, anabolic steroids, cimetidine, spironolactone; those that decrease FSH levels such as phenytoin; those that decrease sperm motility such as sulfasalazine and nitrofurantoin
- Genetic abnormalities such as a Robertsonian translocation
Headgear called a "scrum cap" in rugby, or simply "headgear" or earguard in wrestling and other martial arts, that protects the ears is worn to help prevent this condition. For some athletes, however, a cauliflower ear is considered a badge of courage or experience.
Because an acute hematoma can lead to cauliflower ear, prompt evacuation of the blood is needed to prevent permanent deformity. The outer ear is prone to infections, so antibiotics are usually prescribed. Pressure is applied by bandaging, helping the skin and the cartilage to reconnect. Without medical intervention the ear can suffer serious damage. Disruption of the ear canal is possible. The outer ear may wrinkle, and can become slightly pale due to reduced blood flow; hence the common term "cauliflower ear". Cosmetic procedures are available that can possibly improve the appearance of the ear.
The medical aspect of a face distortion is usually the case involving the skull, neck, or brain. whatever treatment for the aftermath of a face distortion depends on the condition of the receiver after the event occurs.
Pigment dispersion syndrome (PDS) is an affliction of the eye that can lead to a form of glaucoma known as pigmentary glaucoma. It takes place when pigment cells slough off from the back of the iris and float around in the aqueous humor. Over time, these pigment cells can accumulate in the anterior chamber in such a way that it can begin to clog the trabecular meshwork (the major site of aqueous humour drainage), which can in turn prevent the aqueous humour from draining and therefore increases the pressure inside the eye. With PDS, the intraocular pressure tends to spike at times and then can return to normal. Exercise has been shown to contribute to spikes in pressure as well. When the pressure is great enough to cause damage to the optic nerve, this is called pigmentary glaucoma. As with all types of glaucoma, when damage happens to the optic nerve fibers, the vision loss that occurs is irreversible and painless.
This condition is rare, but occurs most often in Caucasians, particularly men, and the age of onset is relatively low: mid 20s to 40s. As the crystalline lens hardens with age, the lens zonules pull away from the iris and the syndrome lessens and stops. Most sufferers are nearsighted.
There is no cure yet, but pigmentary glaucoma can be managed with eye drops or treated with simple surgeries. One of the surgeries is the YAG laser procedure in which a laser is used to break up the pigment clogs, and reduce pressure. If caught early and treated, chances of glaucoma are greatly reduced. Sufferers are often advised not to engage in high-impact sports such as long-distance running or martial arts, as strong impacts can cause more pigment cells to slough off.
A 2016 Cochrane Review sought to determine the effectiveness of YAG laser iridotomy versus no laser iridotomy for pigment dispersion syndrome and pigmentary glaucoma, in 195 participants, across five studies. No clear benefits in preventing loss of visual field were found for eyes treated with peripheral laser iridotomy. There was weak evidence suggesting that laser iridotomy could be more effective in lowering intraocular pressure in eyes versus no treatment.
Blain was an animal disease of unknown etiology that was well known in the eighteenth- and nineteenth centuries. It is unclear whether it is still extant, or what modern disease it corresponds to.
According to Ephraim Chambers' eighteenth-century "Cyclopaedia, or an Universal Dictionary of Arts and Sciences", blain was "a " (in the archaic eighteenth-century sense of the word, meaning "disease") occurring in animals, consisting in a "Bladder growing on the Root of the Tongue against the Wind-Pipe", which "at length swelling, stops the Wind". It was thought to occur "by great chafing, and heating of the Stomach".
Blain is also mentioned in "Cattle: Their Breeds, Management, and Diseases", published in 1836, where it is also identified as "gloss-anthrax". W. C. Spooner's 1888 book "The History, Structure, Economy and Diseases of the Sheep" also identifies blain as being the same as gloss-anthrax.
Modern scholarship suggests that "gloss-anthrax" was not the same disease as modern-day anthrax, but instead could have been foot-and-mouth disease, or a viral infection with a secondary "Fusobacterium necrophorum" infection. It has also been suggested that it may have been due to a variant strain of true anthrax that is no longer in existence. Other sources also report epizootics known as "blain" or "black-blain" in the 13th and 14th centuries, but it is not clear if the disease involved was the same as "gloss-anthrax".
Several movies, as well as some anime, involving boxing, martial arts, or other styles of fighting have scenes involving face distortion. Movies like "Cinderella man", which involves American boxing has a few of these moments. Anime's like Bleach and Naruto contain moments of face distortion as well.
In "How Everyone Became Depressed: The Rise and Fall of the Nervous Breakdown" (2013), Edward Shorter, a professor of psychiatry and the history of medicine, argues for a return to the old-fashioned concept of nervous illness:
Synesthesia is found in at least 4.4% of the population, as a high estimate, which is equivalent to 1 in 23 people. This study had also concluded that one common form of synesthesia—grapheme-color synesthesia (colored letters and numbers) – is found in more than one percent of the population, and this latter prevalence of graphemes-color synesthesia has now been independently verified in a yet larger sample. Earlier estimates of the prevalence of synesthesia were based on "best-guess" estimations only ("e.g." 1 in 250,000) or had limitations in their methodologies because they required synesthetes to refer themselves for study ("e.g." 1 in 2000) and for this reason the authors of those studies had been moderate in their claims. Also, some individuals will not self-classify as synesthetes because they do not realize that their perceptions are different from those of everyone else.
The most common forms of synesthesia are those that trigger colors, and the most prevalent of all is day-color. Also relatively common is grapheme-color synesthesia. We can think of "prevalence" both in terms of how common is synesthesia (or different forms of synesthesia) within the population, or how common are different forms of synesthesia within synesthetes. So within synesthetes, forms of synesthesia that trigger color also appear to be the most common forms of synesthesia with a prevalence rate of 86% within synesthetes. In another study, music-color is also prevalent at 18–41%. Some of the rarest are reported to be auditory-tactile, mirror-touch, and lexical-gustatory.
There is research to suggest that the likelihood of having synesthesia is greater in people with autism.
Learning disability is a classification that includes several areas of functioning in which a person has difficulty learning in a typical manner, usually caused by an unknown factor or factors. Given the "difficulty learning in a typical manner", this does not exclude the ability to learn in a different manner. Therefore, some people can be more accurately described as having a "Learning Difference", thus avoiding any misconception of being disabled with a lack of ability to learn and possible negative stereotyping.
In the UK, the term "learning disability" generally refers to an intellectual disability, while difficulties such as dyslexia and dyspraxia are usually referred to as "learning difficulties".
While "learning disability, learning disorder" and "learning difficulty" are often used interchangeably, they differ in many ways. Disorder refers to significant learning problems in an academic area. These problems, however, are not enough to warrant an official diagnosis. Learning disability, on the other hand, is an official clinical diagnosis, whereby the individual meets certain criteria, as determined by a professional (psychologist, pediatrician, etc.). The difference is in degree, frequency, and intensity of reported symptoms and problems, and thus the two should not be confused. When the term "learning disorder" is used, it describes a group of disorders characterized by inadequate development of specific academic, language, and speech skills. Types of learning disorders include reading (dyslexia), mathematics (dyscalculia) and writing (dysgraphia).
The unknown factor is the disorder that affects the brain's ability to receive and process information. This disorder can make it problematic for a person to learn as quickly or in the same way as someone who is not affected by a learning disability. People with a learning disability have trouble performing specific types of skills or completing tasks if left to figure things out by themselves or if taught in conventional ways.
Individuals with learning disabilities can face unique challenges that are often pervasive throughout the lifespan. Depending on the type and severity of the disability, interventions, and current technologies may be used to help the individual learn strategies that will foster future success. Some interventions can be quite simplistic, while others are intricate and complex. Current technologies may require student training to be effective classroom supports. Teachers, parents, and schools can create plans together that tailor intervention and accommodations to aid the individuals in successfully becoming independent learners. School psychologists and other qualified professionals quite often help design the intervention and coordinate the execution of the intervention with teachers and parents.
Intrauterine exposure to environmental toxins in pregnancy has the potential to cause adverse effects on the development of the embryo/fetus and to cause pregnancy complications. Air pollution has been associated with low birth weight infants. Conditions of particular severity in pregnancy include mercury poisoning and lead poisoning. To minimize exposure to environmental toxins, the "American College of Nurse-Midwives" recommends: checking whether the home has lead paint, washing all fresh fruits and vegetables thoroughly and buying organic produce, and avoiding cleaning products labeled "toxic" or any product with a warning on the label.
Pregnant women can also be exposed to toxins in the workplace, including airborne particles. The effects of wearing N95 filtering facepiece respirators are similar for pregnant women as non-pregnant women, and wearing a respirator for one hour does not affect the fetal heart rate.
The use of recreational drugs in pregnancy can cause various pregnancy complications.
- Ethanol during pregnancy can cause fetal alcohol syndrome and fetal alcohol spectrum disorder. Studies have shown that light to moderate drinking during pregnancy might not pose a risk to the fetus, although no amount of alcohol during pregnancy can be guaranteed to be absolutely safe.
- Tobacco smoking during pregnancy can cause a wide range of behavioral, neurological, and physical difficulties. Smoking during pregnancy causes twice the risk of premature rupture of membranes, placental abruption and placenta previa. Smoking is associated with 30% higher odds of preterm birth.
- Prenatal cocaine exposure is associated with premature birth, birth defects and attention deficit disorder.
- Prenatal methamphetamine exposure can cause premature birth and congenital abnormalities. Short-term neonatal outcomes show small deficits in infant neurobehavioral function and growth restriction. Long-term effects in terms of impaired brain development may also be caused by methamphetamine use.
- Cannabis in pregnancy has been shown to be teratogenic in large doses in animals, but has not shown any teratogenic effects in humans.
The causes for learning disabilities are not well understood, and sometimes there is no apparent cause for a learning disability. However, some causes of neurological impairments include:
- Heredity and genetics
- Problems during pregnancy and birth
- Accidents after birth
Mortality is increased in people with AS and circulatory disease is the most frequent cause of death. AS patients have an increased risk of 60% for cerebrovascular mortality, and an overall increased risk of 50% for vascular mortality. About one third of those with Ankylosing spondylitis have severe disease, which reduces life expectancy.
As increased mortality in ankylosing spondylitis is related to disease severity, factors negatively affecting outcomes include:
- Male sex
- Plus 3 of the following in the first 2 years of disease:
- Erythrocyte sedimentation rate (ESR) >30 mm/h
- Unresponsive to NSAIDs
- Limitation of lumbar spine range of motion
- Sausage-like fingers or toes
- Oligoarthritis
- Onset <16 years old
The genetic mechanism of synesthesia has long been debated. Due to the prevalence of synesthesia among the first-degree relatives of synesthetes, there is evidence that synesthesia might have a genetic basis, however the monozygotic twins case studies indicate there is an epigenetic component. Synesthesia might also be a oligogenic condition, with Locus heterogeneity, multiple forms of inheritance (including Mendelian in some cases), and continuous variation in gene expression.
Catalepsy is a symptom of certain nervous disorders or conditions such as Parkinson's disease and epilepsy. It is also a characteristic symptom of cocaine withdrawal, as well as one of the features of catatonia. It can be caused by schizophrenia treatment with anti-psychotics, such as haloperidol, and by the anesthetic ketamine. Protein kinase A has been suggested as a mediator of cataleptic behavior.
The terms "nervous breakdown" and "mental breakdown" have not been formally defined through a medical diagnostic system such as the DSM-5 or ICD-10, and are nearly absent from current scientific literature regarding mental illness. Although "nervous breakdown" is not rigorously defined, surveys of laypersons suggest that the term refers to a specific acute time-limited reactive disorder, involving symptoms such as anxiety or depression, usually precipitated by external stressors. Many health experts today refer to a nervous breakdown as a "modern mental health crisis."
Specific cases are sometimes described as a "breakdown" only after the emotional and physical demands on a person's life are so great as to prevent him or her from performing activities of daily living or, less strictly, only when those demands prevent him/her from performing his/her familial or occupational duties.
Nervous breakdowns are often caused by serious ongoing mental health disorders.
Between 0.1% and 1.8% of people are affected. The disease is most common in Northern European countries, and seen least in people of Afro-Caribbean descent. Although the ratio of male to female disease is reportedly 3:1, many rheumatologists believe the number of women with AS is underdiagnosed, as most women tend to experience milder cases of the disease. The majority of people with AS, including 95 percent of people of European descent with the disease, express the HLA-B27 antigen and high levels of immunoglobulin A (IgA) in the blood.
Symptoms include: rigid body, rigid limbs, limbs staying in same position when moved (waxy flexibility), no response, loss of muscle control, and slowing down of bodily functions, such as breathing.
People with diabetes face special skin challenges. Because diabetes affects the capillaries, the small blood vessels which feed the skin, thickening of the skin with callus increases the difficulty of supplying nutrients to the skin. Callus formation is seen in high numbers of patients with diabetes, and together with absent foot pulses and formation of hammer toe, this may be an early sign of individuals at an increased risk for foot ulcers.
The stiffness of a callus or corn, coupled with the shear and pressure that caused it, may tear the capillaries or adjoining tissue, causing bleeding within the callus or corn. Often, bleeding within a callus is an early sign of diabetes, even before elevated blood sugars may be noticed. Although the bleeding can be small, sometimes small pools of blood or hematoma are formed. The blood itself is an irritant, a foreign body within the callus that makes the area burn or itch. If the pool of blood is exposed to the outside, infection may follow. Infection may also lead to ulceration. Fortunately, this process can be prevented at several places. Diabetic foot infections are the leading cause of diabetic limb amputation.
Most cases are fatal. Automated external defibrillators have helped increase the survival rate to 35%. Defibrillation must be started as soon as possible (within 3 minutes) for maximal benefit. Commotio cordis is the leading cause of fatalities in youth baseball in the US, with two to three deaths per year. It has been recommended that "communities and school districts reexamine the need for accessible automatic defibrillators and cardiopulmonary resuscitation-trained coaches at organized sporting events for children."
In botany, the term is also used to describe a condition of thickened surfaces of leaves or other plant parts. A callus also can refer to an undifferentiated plant cell mass grown on a culture medium, which can be put into a bioreactor to produce genetically identical cells. This is a type of tissue culture, and can be started from almost any part of the plant, although tissues taken from the vicinity of meristems usually produce the best results.
The term has also been used in orthopedic medicine to describe heterogeneous tissue involved in the intermediate stages of bone healing.
In English, the adjective "callous" means insensitive or unfeeling, similarly to how calluses can cause a loss of pain sensitivity in the affected area.