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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)
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The following increase an individual's chances for acquiring VCD:
- Upper airway inflammation (allergic or non-allergic rhinitis, chronic sinusitis, recurrent upper respiratory infections)
- Gastroesophageal reflux disease
- Past traumatic event that involved breathing (e.g. near-drowning, suffocation)
- Severe emotional trauma or distress
- Female gender
- Playing a wind instrument
- Playing a competitive or elite sport
The exact cause of VCD is not known, and it is unlikely that a single underlying cause exists. Several contributing factors have been identified, which vary widely among VCD patients with different medical histories. Physical exercise (including, but not limited to, competitive athletics) is one of the major triggers for VCD episodes, leading to its frequent misdiagnosis as exercise-induced asthma. Other triggers include airborne pollutants and irritants such as smoke, dust, gases, soldering fumes, cleaning chemicals such as ammonia, perfumes, and other odours. Gastroesophageal reflux disease (GERD) and rhinosinusitis (inflammation of the paranasal sinuses and nasal cavity) may also play a role in inflaming the airway and leading to symptoms of VCD as discussed below.
Laryngeal hyperresponsiveness is considered the most likely physiologic cause of VCD, brought on by a range of different triggers that cause inflammation and/or irritation of the larynx (voice box). The glottic closure reflex (or laryngeal adductor reflex) serves to protect the airway, and it is possible that this reflex becomes hyperactive in some individuals, resulting in the paradoxical vocal fold closure seen in VCD. Two major causes of laryngeal inflammation and hyperresponsiveness are gastroesophageal reflux disease (GERD) and postnasal drip (associated with rhinosinusitis, allergic or nonallergic rhinitis, or a viral upper respiratory tract infection (URI)). Rhinosinusitis is very common among patients with VCD and for many patients, VCD symptoms are ameliorated when the rhinosinusitis is treated. GERD is also common among VCD patients, but only some experience an improvement in VCD symptoms when GERD is treated. Other causes of laryngeal hyperresponsiveness include inhalation of toxins and irritants, cold and dry air, episodic croup and laryngopharyngeal reflux (LPR).
VCD has long been strongly associated with a variety of psychological or psychogenic factors, including conversion disorder, major depression, obsessive-compulsive disorder, anxiety (especially in adolescents), stress (particularly stress relating to competitive sports), physical and sexual abuse, post-traumatic stress disorder, panic attacks, factitious disorder and adjustment disorder. It is important to note that anxiety and depression may occur in certain patients as a "result" of having VCD, rather than being the cause of it. Psychological factors are important precipitating factors for many patients with VCD; although exercise is also a major trigger for episodes of VCD, some patients experience VCD co-occurring with anxiety regardless of whether or not they are physically active at the time of the VCD/anxiety episode. Experiencing or witnessing a traumatic event related to breathing (such as a near-drowning or life-threatening asthma attack, for example), has also been identified as a risk factor for VCD.
VCD has also been associated with certain neurologic diseases including Arnold-Chiari malformation, cerebral aqueduct stenosis, cortical or upper motor neuron injury (such as that resulting from stroke), amyotrophic lateral sclerosis (ALS), parkinsonism syndromes and other movement disorders. However, this association occurs only rarely.
Smoking is the number one cause of Reinke's edema. Other factors include gastroesophageal reflux, hypothyroidism and chronic overuse of the voice. Smoking is the only risk factor that may lead to cancer. Additionally, the combination of several risk factors increase the likelihood of an individual developing Reinke's edema. For example, an individual who smokes and also has gastric reflux would have an increased susceptibility for developing Reinke's edema over time.
Reinke's edema is commonly diagnosed in middle-aged females with a history of smoking (aged 50 years or older). Because males have lower pitched voices than females, males are less likely to observe a significant changes in the voice, and are therefore less likely to seek treatment. Females also report more physical discomfort due to Reinke's edema. The risk of Reinke's edema increases with age and also with prolonged exposure to smoking. Additionally, individuals in professions that require constant use of the voice, such as singers, teachers, and radio hosts, may be at an increased risk for developing the disease.
Because the disease is heavily linked to smoking, there is no established way to screen for Reinke's edema. Similarly, the only way to prevent Reinke's edema is to avoid smoking. By adopting a non-smoking lifestyle after being diagnosed with Reinke's edema, it is possible to stop the disease's progression, although it is not possible to reverse it. Therefore, it is critical to maintain a non-smoking lifestyle even after surgery, because the fluid can re-emerge. In fact, in many cases surgeons will not perform surgery without the guarantee that the individual will stop smoking.
Patulous Eustachian tube is a physical disorder. The exact causes may vary depending on the person. Weight loss is a commonly cited cause of the disorder due to the nature of the Eustachian tube itself. Fatty tissues hold the tube closed most of the time in healthy individuals. When circumstances cause overall body fat to diminish, the tissue surrounding the Eustachian tube shrinks and this function is disrupted.
Activities and substances which dehydrate the body have the same effect and are also possible causes of patulous Eustachian tube. Examples are stimulants (including caffeine) and exercise. Exercise may have a more short-term effect than caffeine or weight loss in this regard.
Pregnancy can also be a cause of patulous Eustachian tube due to the effects of pregnancy hormones on surface tension and mucus in the respiratory system.
Granulomatosis with polyangiitis can also be a cause of this disorder. It is yet unknown why.
With Behçet's disease as an intercurrent disease in pregnancy, the pregnancy does not have an adverse effect on the course of Behçet's disease and may possibly ameliorate its course. Still, there is a substantial variability in clinical course between patients and even for different pregnancies in the same patient. Also, the other way around, Behçet's disease confers an increased risk of pregnancy complications, miscarriage and Cesarean section.
Behçet's can cause male infertility, either as a result of the condition itself or of a side effect of concomitant medication such as Colchicine, which is known to lower sperm count.
The syndrome is rare in the United States, Africa and South America, but is common in the Middle East and Asia, suggesting a possible cause endemic to those tropical areas. A theory suggested that past exposure to lethal infectious agents might have fixed the genetic susceptibility factors to Behçet's disease in those area. It is not associated with cancer, and links with tissue-types (which are under investigation) are not certain. It also does not follow the usual pattern for autoimmune diseases. However, one study has revealed a possible connection to food allergies, particularly to dairy products. An estimated 15,000 to 20,000 Americans have been diagnosed with this disease. In the UK, it is estimated to have about 1 case for every 100,000 people. Globally, males are affected more frequently than females. In the United States, more females are affected than males.
In an epidemiologic study, 56 percent of patients with Behçet's disease developed ocular involvement at a mean age of 30. Ocular involvement was the first manifestation of Behçet's disease in 8.6 percent of patients. Ocular Behçet's disease with involvement of the optic nerve is rarely reported. Among patients with ocular Behçet's disease funduscopic findings of optic atrophy, and optic disc paleness have been identified with a frequency of 17.9 percent and 7.4 percent, respectively. Other fundoscopic findings include vascular sheathing (23.7%), retinal hemorrhage (9%), macular edema (11.3%), branch retinal vein occlusion (5.8%), and retinal edema (6.6%). However, optic atrophy was the most significant cause of visual impairment identified in 54 percent of patients with ocular Behçet's disease and permanent visual impairment.
The prevalence of this disease increases from North to South. It follows a more severe course in patients with an early age of onset particularly in patients with eye and gastrointestinal involvement.
There are no currently known causes of this disease. There are studies currently proposing several theories of the causes which include inflammation of the adipose tissue, nervous system malfunction and endocrine malfunction. None of the theories that are currently proposed have been found viable. Since little is known about Dercum's disease, there are currently no known modes of prevention. Some hypotheses state that maintaining a healthy weight and diet can help prevent Dercum's although it has not been proven.
Dercum's disease can affect people of any gender and of any age. The majority of cases are linked to women between the ages of 45 and 60, who are overweight and postmenopausal. Due to the difficulty of diagnosis of this disease, many cases are underreported or misdiagnosed and it is difficult to understand what part of the population is affected by it the most.
Extramammary Paget's disease is usually seen in isolation and is associated with an underlying invasive malignancy about 12% of the time. It is associated with an underlying adnexal malignancy about 24% of the time. Paget's disease of the breast is almost always associated with an underlying invasive malignancy, i.e. breast cancer (e.g. mammary ductal carcinoma).
Patulous Eustachian Tube (PET) or tube to open remains an ET dysfunction category, difficult to diagnose and to treat. Recent studies suggest that the pathophysiology and etiology of PET is more related to a previous history of otitis media, rather than from weight loss, which was widely recognized as the major causal factor. Simultaneous weight gain can even be observed in some cases. The average age is 30 years, with a female prevalence. It’s rare to find patients of less than 15 years of age, which seems to confirm the opinion that PET is an acquired condition. Chronic upper respiratory inflammatory diseases are almost always associated with PET; half of these patients report previous history of nasal or sinus surgery. Radical posterior / inferior turbinectomies seem to be proportionally connected to PET severity. History of recurrent otitis media with effusion, with tympanostomy and adenoidectomy during childhood is also frequent. Laryngopharyngeal reflux (LPR) is identified in a great proportion of patients. Last epidemiological data indicates that PET results from obstructive ET dysfunction evolving over a long period of time.
Since the surgical management of these two pathologies is at diametrically opposed extremes, it is critical to obtain the correct diagnosis before undertaking any treatment. Visualization of a permanently open tubal valve by endoscopic examination allows settling this question, but its absence does not exclude PET diagnosis. Sonotubometry and recently developed tubomanometry may help in some specific cases. Unfortunately, some PET cases remain difficult to diagnose.
While there is no cure, most people with tinnitus get used to it over time; for a minority, it remains a significant problem.
Dercum's disease most commonly appears between the ages of 35 and 50 years of age. It is five to thirty times more common in women than in men. Originally, Dercum proposed that the condition mainly affects postmenopausal women. However, a 2007 survey has revealed that 85.7 percent of the included patients developed Dercum's disease before menopause. The prevalence of Dercum's disease has not yet been exactly established.
Paget's disease of the vulva, a rare disease, may be a primary lesion or associated with adenocarcinoma originating from local organs such as the Bartholin gland, the urethra, or the rectum and thus be secondary. Patients tend to be postmenopausal.
Paget's disease of the penis may also be primary or secondary, and is even rarer than genital Paget’s disease in women. At least one case has been misdiagnosed as Bowen's disease. Isolated Paget's disease of the penis is extremely rare.
Morbidity and mortality range from both extremes as the significance correlate with the underlying systemic disease.
Recent studies have examined the role of specific cell types in Reinke's edema, including the role of vocal cord fibroblasts. In normal tissue, these spindle-shaped CD34+ fibroblasts produce extracellular matrix proteins such as collagen and elastin. Recent findings have shown a morphological change in fibroblasts extracted from the tissue of Reinke's edema to a more dendritic-like shape with several protrusions. Large populations of these altered CD34+ fibroblasts have been found surrounding the areas of edema. They lack normal expression of several Cluster Differentiation (CD) proteins and express additional proteins that are not expressed in normal vocal cord fibroblasts. Furthermore, cigarette smoke was discovered to increase COX-2 and PGE2 expression in fibroblasts, which could indicate the role of cigarette smoke in Reinke's edema.
While smoking is a clear risk factor to Reinke's edema, other risk factors are being identified to explain Reinke's edema in nonsmokers. Research has suggested the role of bacterial colonies in non-neoplastic lesions such as Reinke's edema. Using pyrosequencing, strains of "S. pseudopneumoniae" were found as the dominant bacterial strain across most non-neoplastic lesions. Of all the sequences analyzed, streptococcus represented 72.9% of bacteria found within these lesions. While smoking, gastric reflux, and vocal abuse have been more widely agreed upon in literature as risk factors for Reinke's edema, the altered bacterial cultures could be developed as a diagnostic tool in the future.
The majority of the research within the last ten years focuses on improving surgery for Reinke's edema. Due to the importance of the Reinke's space in speech, it is important that minimally invasive techniques be perfected that minimize the risk of complications. The CO2 laser has been successfully incorporated into the surgical technique, however, there are several other lasers being investigated for use in Reinke's edema. These include photoangiolytic lasers and potassium titanyl phosphate lasers.
Factors associated with tinnitus include:
- ear problems and hearing loss:
- conductive hearing loss
- acoustic shock
- loud noise or music
- middle ear effusion
- sensorineural hearing loss
- excessive or loud noise
- presbycusis (age-associated hearing loss)
- Ménière's disease
- endolymphatic hydrops
- superior canal dehiscence
- acoustic neuroma
- mercury or lead poisoning
- ototoxic medications
- neurologic disorders:
- Arnold–Chiari malformation
- multiple sclerosis
- head injury
- temporomandibular joint dysfunction
- giant cell arteritis
- metabolic disorders:
- vitamin B deficiency
- iron deficiency anemia
- psychiatric disorders
- depression
- anxiety disorders
- other factors:
- vasculitis
- Some psychedelic drugs can produce temporary tinnitus-like symptoms as a side effect
- 5-MeO-DET
- diisopropyltryptamine (DiPT)
- benzodiazepine withdrawal
- intracranial hyper or hypotension caused by, for example, encephalitis or a cerebrospinal fluid leak
The causes of Kyrle disease are unclear and can be idiopathic. The only correlation that has shown light is the frequent association with an underlying disorder, such as, diabetes mellitus, chronic renal failure, hyperlipoproteinemia, hepatic abnormalities, and congestive heart failure. However, there had been cases where Kyrle disease was seen without any conjunction with the previous mentioned disorders. Due to the causes of Kyrle disease is unknown, the best way to prevent the disease is to prevent the disorders that are usually reported in conjunction with it.
The aging process has three distinct components: physiologic degeneration, extrinsic damage (nosocusis), and intrinsic damage (sociocusis). These factors are superimposed on a genetic substrate, and may be overshadowed by general age-related susceptibility to diseases and disorders.
Hearing loss is only weakly correlated with age. In preindustrial and non-industrial societies, persons retain their hearing into old age. In the Framingham cohort study, only 10% of the variability of hearing with age could be explained by age-related physiologic deterioration. Within family groups, heredity factors were dominant; across family groups, other, presumably sociocusis and nosocusis factors were dominant.
- Heredity: factors like early aging of the cochlea and susceptibility of the cochlea for drug insults are genetically determined.
- Oxidative stress
- General inflammatory conditions
Nosocusis factors are those that can cause hearing loss, which are not noise-based and separate from pure presbycusis. They may include:
- Ototoxic drugs: Ingestion of ototoxic drugs like aspirin may hasten the process of presbycusis.
- vascular degeneration
- Atherosclerosis: May diminish vascularity of the cochlea, thereby reducing its oxygen supply.
- Dietary habits: Increased intake of saturated fat may accelerate atherosclerotic changes in old age.
- Smoking: Is postulated to accentuate atherosclerotic changes in blood vessels aggravating presbycusis.
- Diabetes: May cause vasculitis and endothelial proliferation in the blood vessels of the cochlea, thereby reducing its blood supply.
- Hypertension: causes potent vascular changes, like reduction in blood supply to the cochlea, thereby aggravating presbycusis.
However, a recent study found that diabetes, atherosclerosis and hypertension had no correlation to presbycusis, suggesting that these are nosocusis (acquired hearing loss) factors, not intrinsic factors.
The twins require the use of wheelchairs for mobility and are unable to speak without the assistance of electronic speaking aids. They experience persistent and painful muscle spasms which are worsened by emotional distress. They are currently living with their parents, with the assistance of hospice workers. Doctors continue to administer tests to the twins in search of a treatment.
Urbach–Wiethe disease is very rare; there are fewer than 300 reported cases in medical literature. Although Urbach–Wiethe disease can be found worldwide, almost a quarter of reported diagnoses are in South Africa. Many of these are in patients of Dutch, German, and Khoisan ancestry. This high frequency is thought to be due to the founder effect. Due to its recessive genetic cause and the ability to be a carrier of the disease without symptoms, Urbach–Wiethe disease often runs in families. In some regions of South Africa, up to one in 12 individuals may be carriers of the disease. Most of the case studies involving Urbach–Wiethe disease patients involve only one to three cases and these cases are often in the same family. Due to its low incidence, it is difficult to find a large enough number of cases to adequately study the disease.
The prevalence of salivary stones in the general population is about 1.2% according to post mortem studies, but the prevalence of salivary stones which cause symptoms is about 0.45% in the general population. Sialolithiasis accounts for about 50% of all disease occurring in major salivary glands, and for about 66% of all obstructive salivary gland diseases. Salivary gland stones are twice as common in males as in females. The most common age range in which they occur is between 30 and 60, and they are uncommon in children.
This disease is more common in women and an association with the gene FLT4 has been described. FLT4 codes for VEGFR-3, which is implicated in development of the lymphatic system.
Milroy's disease is also known as primary or hereditary lymphedema type 1A or early onset lymphedema.
It is a very rare disease with only about 200 cases reported in the medical literature. Milroy's disease is an autosomal dominant condition caused by a mutation in the FLT4 gene which encodes of the vascular endothelial growth factor receptor 3 (VEGFR-3) gene located on the long arm (q) on chromosome 5 (5q35.3).
In contrast to Milroy's disease (early onset lymphedema type 1A,) which typically has its onset of swelling and edema at birth or during early infancy, hereditary lymphedema type II, known as Meige disease, has its onset around the time of puberty. Meige disease is also an autosomal dominant disease. It has been linked to a mutations in the ‘forkhead’ family transcription factor (FOXC2) gene located on the long arm of chromosome 16 (16q24.3). About 2000 cases have been identified. A third type of hereditary lymphedema, that has an onset after the age of 35 is known as lymph-edema tarda.
The increased incidence of Crohn's in the industrialized world indicates an environmental component. Crohn's is associated with an increased intake of animal protein, milk protein and an increased ratio of omega-6 to omega-3 polyunsaturated fatty acids.
Those who consume vegetable proteins appear to have a lower incidence of Crohn's disease. Consumption of fish protein has no association.
Smoking increases the risk of the return of active disease (flares). The introduction of hormonal contraception in the United States in the 1960s is associated with a dramatic increase in incidence, and one hypothesis is that these drugs work on the digestive system in ways similar to smoking. Isotretinoin is associated with Crohn's. Although stress is sometimes claimed to exacerbate Crohn's disease, there is no concrete evidence to support such claim. Dietary microparticles, such as those found in toothpaste, have been studied as they produce effects on immunity, but they were not consumed in greater amounts in patients with Crohn's.
The disease appears to be progressive in nature. The Fields twins started having problems when they were four years old. By the time they had reached the age of nine, they were having difficulty walking and needed frames to assist them with walking. Their muscles have been gradually deteriorating over time. The disease affects the twins' nerves, causing them to make involuntary muscle movements such as trembling in the hands.
The extent of the disease is still unknown as the two women are only 21. However, the disease has had no apparent effect on their brains or personalities. Doctors do not know if the disease is fatal and, if so, what the life expectancy of one with this disease is. If the cause of the disease is genetic, there is a chance that the twins could pass it on to their future children.
While the exact cause is unknown, Crohn's disease seems to be due to a combination of environmental factors and genetic predisposition. Crohn's is the first genetically complex disease in which the relationship between genetic risk factors and the immune system is understood in considerable detail. Each individual risk mutation makes a small contribution to the overall risk of Crohn's (approximately 1:200). The genetic data, and direct assessment of immunity, indicates a malfunction in the innate immune system. In this view, the chronic inflammation of Crohn's is caused when the adaptive immune system tries to compensate for a deficient innate immune system.