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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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Approximately 4% of the general population have an elongated styloid process, and of these about 4% give rise to the symptoms of Eagle syndrome. Therefore, the incidence of stylohyoid syndrome may be about 0.16%.
Patients with this syndrome tend to be between 30 and 50 years of age but it has been recorded in teenagers and in patients > 75 years old. It is more common in women, with a male:female ratio ~ 1:2.
Benign symmetric lipomatosis is a skin condition characterized by extensive symmetric fat deposits in the head, neck, and shoulder girdle area. The German surgeon Otto Wilhelm Madelung was the first to give a detailed description of the disorder. This condition is very rare, with an estimated incidence rate of 1 in 25,000, and affects males up to 30 times more frequently than females.
The cause of the disease remains unknown, but its incidence strongly correlates with alcohol abuse; abstinence from alcohol prevents disease progression. Defects in the adrenergic-stimulated lipolysis and accumulation of embryological brown fat have also been reported. Cosmetic disfigurement due to the fat deposition in the cervicothoracic region results in a "pseudoathletic appearance", resembling the Italian statue "Warrior of Capestrano" and carvings of Queen of Punt (Egypt). Traditionally the treatment is mainly surgical, consisting of the removal of the lipomas, although recent study has proposed liposuction and phosphatidylcholine injection as possible alternatives.
Brooke-Spiegler syndrome is a condition where multiple skin tumors develop from skin structures. Tumors commonly occurring in this syndrome include spiradenomas, trichoepitheliomas, and cylindromas. The tumors are generally benign, but may become malignant. Affected individuals are also at increased risk of developing tumors in tissues other than skin – particularly benign or malignant tumors of the salivary glands.
Tumours in Brooke-Spiegler typically appear in early adulthood and are most often found on the head and neck. In severe cases, the tumors may affect vision or hearing. They can be disfiguring and may contribute to depression or other psychological problems. For unclear reasons, females are often more severely affected than males.
Brooke-Spiegler is rare and its exact incidence is unknown.
It is inherited in an autosomal dominant fashion.
Eagle syndrome (also termed stylohyoid syndrome styloid syndrome, styloid-stylohyoid syndrome, or styloid–carotid artery syndrome) is a rare condition commonly characterized but not limited to - sudden, sharp nerve-like pain in the jaw bone and joint, back of the throat, and base of the tongue, triggered by swallowing, moving the jaw, or turning the neck. Since the brain to body's nerve connections pass through the neck; many seemingly random symptoms can be triggered by impingement or entanglement. First described by American otorhinolaryngologist Watt Weems Eagle in 1937, the condition is caused by an elongated or misshapen styloid process, the slender, pointed piece of bone just below the ear, and/or calcification of the stylohyoid ligament, which interferes with the functioning of neighboring regions in the body, giving rise to pain.
Basilar invagination can be present at birth. If the condition develops after birth, it is usually the result of injury or diseases. If due to injury, about half the time it is caused by vehicle or bicycle accidents; 25% of the time by falls and 10% of the time by recreational activities such as diving accidents.
It also occurs in patients with bone diseases, such as osteomalacia, rheumatoid arthritis, Paget's disease, Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta.
The classification of this syndrome is difficult. Three conditions are known to be caused by mutations in the" CYLD" gene: Brooke-Spiegler syndrome, multiple familial trichoepithelioma, and familial cylindromatosis. Clinically, these are distinct, but appear to arise from mutations in the same gene.
Types include:
The prevalence of Klippel–Feil syndrome is unknown due to the fact that there was no study done to determine the true prevalence.
Although the actual occurrence for the KFS syndrome is unknown, it is estimated to occur 1 in 40,000 to 42,000 newborns worldwide. In addition, females seem to be affected slightly more often than males.
Campomelic dysplasia has a reported incidence of 0.05-0.09 per 10000 live births.
In nearly 95% of the cases, death occurs in the neonatal period due to respiratory distress, generally related to small chest size or insufficient development of the trachea and other upper airway structures.
Among survivors of CMD, the skeletal malformations change over time to include worsening scoliosis or kyphosis resulting in decreased trunk size relative to the limb length. Neurological damage is also often seen including mental retardation and deafness. Even among survivors of the prenatal period, CMD patients have shortened life spans due to lifelong respiratory issues. Those patients with ambiguous genitalia or sex reversal at birth, of course, maintain that state, and are either sterile or have reduced fertility.
The heterogeneity of the Klippel–Feil syndrome has made it difficult to outline the diagnosis as well as the prognosis classes for this disease. Because of this, it has complicated the exact explanation of the genetic cause of the syndrome.
The prognosis for most individuals with KFS is good if the disorder is treated early on and appropriately. Activities that can injure the neck should be avoided, as it may contribute to further damage. Other diseases associated with the syndrome can be fatal if not treated, or if found too late to be treatable.
A traumatic neuroma (also known as "amputation neuroma" or "pseudoneuroma") is a type of neuroma which results from trauma to a nerve, usually during a surgical procedure. The most common oral locations are on the tongue and near the mental foramen of the mouth. They are relatively rare on the head and neck.
Warty dyskeratoma, also known as an Isolated dyskeratosis follicularis, is a benign epidermal proliferation with distinctive histologic findings that may mimic invasive squamous cell carcinoma and commonly manifests as an umbilicated (Having a central mark or depression resembling a navel) lesion with a keratotic plug, WD have some histopathologic similarities to viral warts but it's not caused by HPV and the majority of these lesions display overall histopathologic features consistent with a follicular adnexal neoplasm. usually limited to the head, neck, scalp or face and vulva. Lesions are generally and sporadic and may be associated with a follicular unit. Oral involvement, particularly the hard palate, and genital involvement have been reported. it can also be thought of as one of the manifestations of focal acantholytic dyskeratosis, an epidermal reaction pattern that can be seen in several disorders, including Darier's disease and Grover's disease. But the main Difference between Darier disease and Warty dyskeratoma, is that Darier disease inherited dermatosis (autosomal dominant) consisting of multiple keratotic papules on the face, trunk, and extremities, while WD occurs as an isolated, noninherited, single keratotic nodule mainly confined to the head and neck as mentioned earlier.
People with HPV-mediated oropharyngeal cancer tend to have higher survival rates. The prognosis for people with oropharyngeal cancer depends on the age and health of the person and the stage of the disease. It is important for people with oropharyngeal cancer to have follow-up exams for the rest of their lives, as cancer can occur in nearby areas. In addition, it is important to eliminate risk factors such as smoking and drinking alcohol, which increase the risk for second cancers.
The pathophysiology of Kimura's disease remains unknown, although an allergic reaction, trauma, and an autoimmune process have all been implicated as the possible cause. The disease is manifested by an abnormal proliferation of lymphoid follicles and vascular endothelium. Peripheral eosinophilia and the presence of eosinophils in the inflammatory infiltrate suggest it may be a hypersensitivity reaction. Some evidence has indicated TH2 lymphocytes may also play a role, but further investigation is needed.
Kimura's disease is generally limited to the skin, lymph nodes, and salivary glands, but patients with Kimura's disease and nephrotic syndrome have been reported. The basis of this possible association is unclear.
Its cause remains unknown. Reasons like an allergic reaction or an alteration of immune regulation are suspected. Other theories like persistent antigenic stimulation following arthropod bites and parasitic or candidal infection have also been proposed. To date, none of these theories has been substantiated.
Smoking is the most important risk factor for laryngeal cancer. Death from laryngeal cancer is 20 times more likely for heaviest smokers than for nonsmokers. Heavy chronic consumption of alcohol, particularly alcoholic spirits, is also significant. When combined, these two factors appear to have a synergistic effect.
Some other quoted risk factors are likely, in part, to be related to prolonged alcohol and tobacco consumption. These include low socioeconomic status, male sex, and age greater than 55 years.
People with a history of head and neck cancer are known to be at higher risk (about 25%) of developing a second cancer of the head, neck, or lung. This is mainly because in a significant proportion of these patients, the aerodigestive tract and lung epithelium have been exposed chronically to the carcinogenic effects of alcohol and tobacco. In this situation, a field change effect may occur, where the epithelial tissues start to become diffusely dysplastic with a reduced threshold for malignant change. This risk may be reduced by quitting alcohol and tobacco.
The risk factors that can increase the risk of developing oropharyngeal cancer are:
- Smoking and chewing tobacco
- Heavy alcohol use
- A diet low in fruits and vegetables
- Chewing betel quid, a stimulant commonly used in parts of Asia
- Mucosal infection with human papilloma virus (HPV) (HPV-mediated oropharyngeal cancer)
- HPV infection
- Plummer-Vinson syndrome
- Poor nutrition
- Asbestos exposure
Certain genetic changes including: P53 mutation and CDKN2A (p16) mutations.
High-risk lesions:
- Erythroplakia
- Speckled erythroplakia
- Chronic hyperplastic candidiasis
Medium-risk lesions:
- Oral submucosal fibrosis
- Syphilitic glossitis
- Sideropenic dysphagia (or Paterson-Kelly-Brown syndrome)
Low-risk lesions:
- Oral lichen planus
- Discoid lupus erythematosus
- Discoid keratosis congenita
An odontogenic keratocyst is a rare and benign but locally aggressive developmental cyst. It most often affects the posterior mandible. It most commonly presents in the third decade of life.
In the WHO/IARC classification of head and neck pathology, this clinical entity had been known for years as the odontogenic keratocyst; it was reclassified as keratocystic odontogenic tumour (KCOT) from 2005 to 2017. In 2017 it reverted to the earlier name, as the new WHO/IARC classification reclassified OKC back into the cystic category. The WHO/IARC classification no longer considers it a neoplasm, because the evidence supporting that hypothesis (for example, clonality) is considered insufficient. However, this is an area of hot debate within the head and neck pathology community, and some pathologists still regard OKC as a neoplasm despite the reclassification.
KCOTs are thought to arise from the dental lamina and are associated with impacted teeth. Multiple odontogenic keratocysts are a feature of nevoid basal cell carcinoma syndrome.
Odotogenic Keratocysts are derived from the remnants of the Dental Lamina.
Rosai–Dorfman disease, originally known as sinus histiocytosis with massive lymphadenopathy, is a rare disorder of unknown cause that is characterized by abundant histiocytes in the lymph nodes or other locations throughout the body.
Causes for a head tilt in domestic animals are either diseases of the central or peripheral vestibular system or relieving posture due to neck pain.
Known causes for head tilt in domestic animals include:
- "Encephalitozoon cuniculi" (or "E. cuniculi") infection in rabbits
- Inner ear infection
- Hypothyroidism in dogs
- Disease of the VIIIth cranial nerve the N. Vestibulocochlearis through trauma, infection, inflammation or neoplasia
- Disease of the brain stem through either stroke, trauma or neoplasia
- Damage to the vestibular organ due to toxicity, inflammation or impaired blood supply
- Geriatric vestibular syndrome in dogs
A multitude of conditions may lead to the development of torticollis including: muscular fibrosis, congenital spine abnormalities, or toxic or traumatic brain injury.
A rough categorization discerns between congenital torticollis and acquired torticollis.
Other categories include:
- Osseous
- Traumatic
- CNS/PNS
- Ocular
- Non-muscular soft tissue
- Spasmodic
- Drug induced
Successful treatment of the associated underlying disorder, such as GORD or hiatus hernia, may provide relief.
Sandifer syndrome is not typically life-threatening and the prognosis is typically good.
Around 75% of cases are caused by alcohol and tobacco use.
Tobacco smoke is one of the main risk factors for head and neck cancer and one of the most carcinogenic compounds in tobacco smoke is acrylonitrile. (See Tobacco smoking). Acrylonitrile appears to indirectly cause DNA damage by increasing oxidative stress, leading to increased levels of 8-oxo-2'-deoxyguanosine (8-oxo-dG) and formamidopyrimidine in DNA (see image). Both 8-oxo-dG and formamidopyrimidine are mutagenic. DNA glycosylase NEIL1 prevents mutagenesis by 8-oxo-dG and removes formamidopyrimidines from DNA.
However, cigarette smokers have a lifetime increased risk for head and neck cancers that is 5- to 25-fold increased over the general population.
The ex-smoker's risk for squamous cell cancer of the head and neck begins to approach the risk in the general population twenty years after smoking cessation. The high prevalence of tobacco and alcohol use worldwide and the high association of these cancers with these substances makes them ideal targets for enhanced cancer prevention.
Smokeless tobacco is cause of oral and pharyngeal cancers (oropharyngeal cancer). Cigar smoking is an important risk factor for oral cancers as well.
Other environmental carcinogens suspected of being potential causes of head and neck cancer include occupational exposures such as nickel refining, exposure to textile fibers, and woodworking. Use of marijuana, especially while younger, is linked to an increase in squamous-cell carcinoma cases while other studies suggest use is not shown to be associated with oral squamous cell carcinoma, or associated with decreased squamous cell carcinoma.
SCFE affects approximately 1-10 per 100,000 children. The incidence varies by geographic location, season of the year, and ethnicity. In eastern Japan, the incidence is 0.2 per 100,000 and in the northeastern U.S. it is about 10 per 100,000. Africans and Polynesians have higher rates of SCFE.
SCFEs are most common in adolescents 11–15 years of age, and affects boys more frequently than girls (male 2:1 female). It is strongly linked to obesity, and weight loss may decrease the risk. Other risk factors include: family history, endocrine disorders, radiation / chemotherapy, and mild trauma.
The left hip is more often affected than the right. Over half of cases may have involvement on both sides (bilateral).