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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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Enthesitis is inflammation of the entheses, the sites where tendons or ligaments insert into the bone. It is also called enthesopathy, or any pathologic condition involving the entheses. The entheses are any point of attachment of skeletal muscles to the bone, where recurring stress or inflammatory autoimmune disease can cause inflammation or occasionally fibrosis and calcification. One of the primary entheses involved in inflammatory autoimmune disease is at the heel, particularly the Achilles tendon.
It is associated with HLA B27 arthropathies like ankylosing spondylitis, psoriatic arthritis, and reactive arthritis. Symptoms include multiple points of tenderness at the heel, tibial tuberosity, iliac crest, and other tendon insertion sites.
For a person with arthritis mutilans in the hands, the fingers become shortened by arthritis, and the shortening may become severe enough that the hand looks paw-like, with the first deformity occurring at the interphalangeal and metacarpophalangeal joints. The excess skin from the shortening of the phalanx bones becomes folded transversely, as if retracted into one another like opera glasses, hence the description "la main en lorgnette". As the condition worsens, luxation, phalangeal and metacarpal bone absorption, and skeletal architecture loss in the fingers occurs.
Arthritis mutilans is a rare medical condition involving severe inflammation damaging the joints of the hands and feet, and resulting in deformation and problems with moving the affected areas; it can also affect the spine. As an uncommon arthropathy, arthritis mutilans was originally described as affecting the hands, feet, fingers, and/or toes, but can refer in general to severe derangement of any joint damaged by arthropathy. First described in modern medical literature by Marie and Leri in 1913, in the hands, arthritis mutilans is also known as opera glass hand ("la main en lorgnette" in French), or chronic absorptive arthritis. Sometimes there is foot involvement in which toes shorten and on which painful calluses develop in a condition known as opera glass foot, or "pied en lorgnette".
Symptoms of JIA are often nonspecific initially, and include lethargy, reduced physical activity, and poor appetite. The first manifestation, particularly in young children, may be limping. Children may also become quite ill, presenting with flu-like symptoms that persist. The cardinal clinical feature is persistent swelling of the affected joint(s), which commonly include the knee, ankle, wrist, and small joints of the hands and feet. Swelling may be difficult to detect clinically, especially for joints such as those of the spine, sacroiliac joints, shoulder, hip, and jaw, where imaging techniques such as ultrasound or MRI are very useful.
Pain is an important symptom. Morning stiffness that improves later in the day is a common feature (this implies inflammatory-type joint pain versus mechanical-type joint pain). Late effects of arthritis include joint contracture (stiff, bent joint due to fibrosis) and joint damage. Children with JIA vary in the degree to which they are affected by particular symptoms. Symptoms may also differ between sexes, affecting girls and boys differently among different geographic locations. This is predicted to be due to biological differences in different geographic regions. Children may also have swollen joints (inflammatory swelling, or in chronic arthritis due to synovial proliferation and thickening, and periarticular soft-tissue swelling).
Enthesopathies may take the form of spondyloarthropathies (joint diseases of the spine) such as ankylosing spondylitis, plantar fasciitis, and Achilles tendinitis. Enthesopathy can occur at the elbow, wrist, carpus, hip, knee, ankle, tarsus, or heel bone, among other regions. Further examples include:
- Adhesive capsulitis of shoulder
- Rotator cuff syndrome of shoulder and allied disorders
- Periarthritis of shoulder
- Scapulohumeral fibrositis
- Synovitis of hand or wrist
- Periarthritis of wrist
- Gluteal tendinitis
- Iliac crest spur
- Psoas tendinitis
- Trochanteric tendinitis
Eye disease: JIA is associated with inflammation in the front of the eye (specifically iridocyclitis, a form of chronic anterior uveitis), which affects about one child in five who has JIA, most commonly girls. This complication is usually asymptomatic and can be detected by an experienced optometrist or ophthalmologist using a slit lamp. Later slit lamp features include synechiae. Most children with JIA are enrolled in a regular slit lamp screening program, as poorly controlled chronic anterior uveitis may result in permanent eye damage, including blindness.
Growth disturbance: Children with JIA may have reduced overall rate of growth, especially if the disease involves many joints or other body systems. Paradoxically, individually affected large joints (such as the knee) may grow faster, due to inflammation-induced increased blood supply to the bone growth plates situated near the joints. This can result in leg length discrepancy, and also deformities such as genu valgum. Asymmetrical growth can also affect other bones e.g. discrepancy in digit length. Marked differences in bone age (skeletal maturation) may be seen.
In medicine, an enthesopathy refers to a disorder involving the attachment of a tendon or ligament to a bone. This site of attachment is known as the entheses.
If the condition is known to be inflammatory, it can more precisely be called an enthesitis.
Spondyloarthropathy or spondyloarthrosis refers to any joint disease of the vertebral column. As such, it is a class or category of diseases rather than a single, specific entity. It differs from spondylopathy, which is a disease of the vertebra itself. However, many conditions involve both spondylopathy and spondyloarthropathy.
Spondyloarthropathy with inflammation is called axial spondyloarthritis. In the broadest sense, the term spondyloarthropathy includes joint involvement of vertebral column from any type of joint disease, including rheumatoid arthritis and osteoarthritis, but the term is often used for a specific group of disorders with certain common features, the group often being termed specifically seronegative spondylarthropathies. They have an increased incidence of HLA-B27, as well as negative rheumatoid factor and ANA. Enthesopathy is also sometimes present in association with seronegative.
Non-vertebral signs and symptoms of degenerative or other not-directly-infected inflammation, in the manner of spondyloarthropathies, include asymmetric peripheral arthritis (which is distinct from rheumatoid arthritis), arthritis of the toe interphalangeal joints, sausage digits, Achilles tendinitis, plantar fasciitis, costochondritis, iritis, and mucocutaneous lesions. However, lower back pain is the most common clinical presentation of the causes of spondyloarthropoathies; this back pain is unique because it decreases with activity.
"Seronegative spondyloarthropathy" (or "seronegative spondyloarthritis") is a group of diseases involving the axial skeleton and having a negative serostatus.
"Seronegative" refers to the fact that these diseases are negative for rheumatoid factor, indicating a different pathophysiological mechanism of disease than what is commonly seen in rheumatoid arthritis.
Pain, swelling, or stiffness in one or more joints is commonly present in psoriatic arthritis. Psoriatic arthritis is inflammatory, and affected joints are generally red or warm to the touch. Asymmetrical oligoarthritis, defined as inflammation affecting one to four joints during the first six months of disease, is present in 70% of cases. However, in 15% of cases, the arthritis is symmetrical. The joints of the hand that is involved in psoriasis are the proximal interphalangeal (PIP), the distal interphalangeal (DIP), the metacarpophalangeal (MCP), and the wrist. Involvement of the distal interphalangeal joints (DIP) is a characteristic feature and is present in 15% of cases.
In addition to affecting the joints of the hands and wrists, psoriatic arthritis may affect the fingers, nails, and skin. Sausage-like swelling in the fingers or toes, known as dactylitis, may occur. Psoriasis can also cause changes to the nails, such as pitting or separation from the nail bed, onycholysis, hyperkeratosis under the nails, and horizontal ridging. Psoriasis classically presents with scaly skin lesions, which are most commonly seen over extensor surfaces such as the scalp, natal cleft and umbilicus.
In psoriatic arthritis, pain can occur in the area of the sacrum (the lower back, above the tailbone), as a result of sacroiliitis or spondylitis, which is present in 40% of cases. Pain can occur in and around the feet and ankles, especially enthesitis in the Achilles tendon (inflammation of the Achilles tendon where it inserts into the bone) or plantar fasciitis in the sole of the foot.
Along with the above-noted pain and inflammation, there is extreme exhaustion that does not go away with adequate rest. The exhaustion may last for days or weeks without abatement. Psoriatic arthritis may remain mild or may progress to more destructive joint disease. Periods of active disease, or flares, will typically alternate with periods of remission. In severe forms, psoriatic arthritis may progress to arthritis mutilans which on X-ray gives a "pencil-in-cup" appearance.
Because prolonged inflammation can lead to joint damage, early diagnosis and treatment to slow or prevent joint damage is recommended.
The exact causes are not yet known, but a number of genetic associations have been identified in a genome-wide association study of psoriasis and psoriatic arthritis including HLA-B27.
Axial spondyloarthritis (also often referred to as axSpA) is a chronic, autoinflammatory disease predominantly affecting the axial skeleton (sacroiliac joints and spine). The most known member of the axial spondyloarthritis disease family is ankylosing spondylitis. Axial spondyloarthritis is an umbrella term that has been introduced in the year 2009 to characterize a diverse disease family that share clinical and genetic features, such as the involvement of the axial skeleton. The expression was introduced in order to unify (1) less severe forms of spondylitis, (2) the early phase of ankylosing spondylitis as well as (3) ankylosing spondylitis itself into one term.
Reactive arthritis, also known as Reiter's syndrome, is a form of inflammatory arthritis that develops in response to an infection in another part of the body (cross-reactivity). Coming into contact with bacteria and developing an infection can trigger the disease. By the time the patient presents with symptoms, often the "trigger" infection has been cured or is in remission in chronic cases, thus making determination of the initial cause difficult.
The arthritis often is coupled with other characteristic symptoms; this has been called Reiter's syndrome, Reiter's disease or Reiter's arthritis. The term "reactive arthritis" is increasingly used as a substitute for this designation because of Hans Conrad Julius Reiter's war crimes with the Nazi Party. The manifestations of reactive arthritis include the following triad of symptoms: an inflammatory arthritis of large joints, inflammation of the eyes in the form of conjunctivitis or uveitis, and urethritis in men or cervicitis in women. Arthritis occurring alone following sexual exposure or enteric infection is also known as reactive arthritis. Patients can also present with mucocutaneous lesions, as well as psoriasis-like skin lesions such as circinate balanitis, and keratoderma blennorrhagicum. Enthesitis can involve the Achilles tendon resulting in heel pain. Not all affected persons have all the manifestations.
The clinical pattern of reactive arthritis commonly consists of an inflammation of fewer than five joints which often includes the knee or sacroiliac joint. The arthritis may be "additive" (more joints become inflamed in addition to the primarily affected one) or "migratory" (new joints become inflamed after the initially inflamed site has already improved).
Reactive arthritis is an RF-seronegative, HLA-B27-linked arthritis often precipitated by genitourinary or gastrointestinal infections. The most common triggers are intestinal infections (with "Salmonella", "Shigella" or "Campylobacter") and sexually transmitted infections (with "Chlamydia trachomatis").
It most commonly strikes individuals aged 20–40 years of age, is more common in men than in women, and more common in white than in black people. This is owing to the high frequency of the HLA-B27 gene in the white population. It can occur in epidemic form. Patients with HIV have an increased risk of developing reactive arthritis as well.
A large number of cases during World Wars I and II focused attention on the triad of arthritis, urethritis, and conjunctivitis (often with additional mucocutaneous lesions), which at that time was also referred to as Fiessenger-Leroy-Reiter syndrome.
Reactive arthritis may be self-limiting, frequently recurring, chronic or progressive. Most patients have severe symptoms lasting a few weeks to six months. 15 to 50 percent of cases involve recurrent bouts of arthritis. Chronic arthritis or sacroiliitis occurs in 15–30 percent of cases. Repeated attacks over many years are common, and patients sometimes end up with chronic and disabling arthritis, heart disease, amyloid deposits, ankylosing spondylitis, immunoglobulin A nephropathy, cardiac conduction abnormalities, or aortitis with aortic regurgitation. However, most people with reactive arthritis can expect to live normal life spans and maintain a near-normal lifestyle with modest adaptations to protect the involved organs.
In 1984, a joint effort led to the definition of specific classification criteria for ankylosing spondylitis, called the “Modified New York Criteria”. One of the central New York criteria was the existence of radiographically visible changes in the sacroiliac joints and/or spine, which have formed due to bone fusion, erosion and/or formation caused by the disease. Even though these criteria helped to improve uniformly define ankylosing spondylitis, such radiologic changes often only manifested several years after the first disease symptoms appeared. In order to be able to study also patients with early and less typical forms, new criteria were needed that could identify the disease already at an early stage. In 2009 the Modified New York criteria were extended by a broad set of new classification criteria that aimed to classify patients based on the presence of typical spondyloarthritis disease features. These included inflammatory back pain, family history for axial spondyloarthritis, response to treatment with nonsteroidal anti-inflammatory drugs (NSAIDs), past history of or current inflammation in the joints (arthritis), tendon-bone attachment of the heel (enthesitis), or eyes (uveitis), bowel (inflammatory bowel disease), skin (psoriasis) or signs of elevated inflammation (C-reactive protein and erythrocyte sedimentation rate. Important parts of the ASAS axSpA criteria is the biomarker HLA-B27 and magnetic resonance imaging (MRI). The criteria can only be applied in people that have chronic back pain (at least 3 months duration) started before the age of 45 years and only in those patients that already have a diagnosis of axial SpA. Since the disease ankylosing spondylitis was still defined by the Modified New York criteria of 1984, there was the need to find a new disease term that would also include the less severe forms or early onset of ankylosing spondylitis. This expression was found in the umbrella term axial spondyloarthritis. The 2009 classification criteria are called the ASAS (Assessment of SpondyloArthritis international Society) axial spondayloarthritis criteria.
Sarcoidosis can be involved with the joints, bones and muscles. This causes a wide variety of musculoskeletal complaints that act through different mechanisms.
About 5–15% of cases affect the bones, joints, or muscles.
Arthritic syndromes can be categorized in two ways: as acute or chronic.
Sarcoidosis patients suffering acute arthritis often also have bilateral Hilar lymphadenopathy and Erythema nodosum. These three associated syndromes often occur together in Löfgren syndrome. The arthritis symptoms of Löfgren syndrome occur most frequently in the ankles, followed by the knees, wrists, elbows, and metacarpophalangeal joints. Usually true arthritis is not present, but instead, periarthritis appears as a swelling in the soft tissue around the joints that can be seen by ultrasonographic methods.
These joint symptoms tend to precede or occur at the same time as erythema nodosum develops. Even when erythema nodosum is absent, it is believed that the combination of hilar lymphadenopathy and ankle periarthritis can be considered as a variant of Löfgren syndrome.
Enthesitis also occurs in about one-third of patients with acute sarcoid arthritis, mainly affecting the Achilles tendon and heels. Soft tissue swelling of the ankles can be prominent, and biopsy of this soft tissue reveals no granulomas but does show panniculitis that is similar to erythema nodosum.
Chronic sarcoid arthritis usually occurs in the setting of more diffuse organ involvement. The ankles, knees, wrists, elbows, and hands may all be affected in the chronic form and often this presents itself in a polyarticular pattern. Dactylitis similar to that seen in Psoriatic arthritis, that is associated with pain, swelling, overlying skin erythema, and underlying bony changes may also occur. Development of Jaccoud arthropathy (a nonerosive deformity) is very rarely seen.
Bone involvement in sarcoidosis has been reported in 1–13% of cases. The most frequent sites of involvement are the hands and feet, whereas the spine is less commonly affected. Half of the patients with bony lesions experience pain and stiffness, whereas the other half remain asymptomatic.
Periostitis is rarely seen in Sarcoidosis and has been found to present itself at the femoral bone.
Abnormal blood tests are frequent, accounting for over 50% of cases, but are not diagnostic. Lymphopenia is the most common blood anomaly in sarcoidosis. Anemia occurs in about 20% of people with sarcoidosis. Leukopenia is less common and occurs in even fewer persons but is rarely severe. Thrombocytopenia and hemolytic anemia are fairly rare. In the absence of splenomegaly, leukopenia may reflect bone marrow involvement, but the most common mechanism is a redistribution of blood T cells to sites of disease. Other nonspecific findings include monocytosis, occurring in the majority of sarcoidosis cases, increased hepatic enzymes or alkaline phosphatase. People with sarcoidosis often have immunologic anomalies like allergies to test antigens such as "Candida" or purified protein derivative (PPD). Polyclonal hypergammaglobulinemia is also a fairly common immunologic anomaly seen in sarcoidosis.
Lymphadenopathy (swollen glands) is common in sarcoidosis and occurs in 15% of cases. Intrathoracic nodes are enlarged in 75 to 90% of all people; usually this involves the hilar nodes, but the paratracheal nodes are commonly involved. Peripheral lymphadenopathy is very common, particularly involving the cervical (the most common head and neck manifestation of the disease), axillary, epitrochlear, and inguinal nodes. Approximately 75% of cases show microscopic involvement of the spleen, although only in about 5–10% of cases does splenomegaly appear.
Most common:
- Floaters
- Blurred vision
Intermediate uveitis normally only affects one eye. Less common is the presence of pain and photophobia.
Uveitis is classified anatomically into anterior, intermediate, posterior, and panuveitic forms—based on the part of the eye primarily affected. Prior to the twentieth century, uveitis was typically referred to in English as "ophthalmia."
- Anterior uveitis includes iridocyclitis and iritis. Iritis is the inflammation of the anterior chamber and iris. Iridocyclitis presents the same symptoms as iritis, but also includes inflammation in the ciliary body. Anywhere from two-thirds to 90% of uveitis cases are anterior in location. This condition can occur as a single episode and subside with proper treatment or may take on a recurrent or chronic nature.
- intermediate uveitis, also known as pars planitis, consists of vitritis—which is inflammation of cells in the vitreous cavity, sometimes with "snowbanking", or deposition of inflammatory material on the pars plana. There are also "snowballs," which are inflammatory cells in the vitreous.
- Posterior uveitis or chorioretinitis is the inflammation of the retina and choroid.
- Pan-uveitis is the inflammation of all layers of the uvea.
In addition to systemic and gastrointestinal involvement, Crohn's disease can affect many other organ systems. Inflammation of the interior portion of the eye, known as uveitis, can cause blurred vision and eye pain, especially when exposed to light (photophobia). Inflammation may also involve the white part of the eye (sclera), a condition called episcleritis. Both episcleritis and uveitis can lead to loss of vision if untreated.
Crohn's disease that affects the ileum may result in an increased risk for gallstones. This is due to a decrease in bile acid resorption in the ileum and the bile gets excreted in the stool. As a result, the cholesterol/bile ratio increases in the gallbladder, resulting in an increased risk for gallstones.
Crohn's disease is associated with a type of rheumatologic disease known as seronegative spondyloarthropathy. This group of diseases is characterized by inflammation of one or more joints (arthritis) or muscle insertions (enthesitis). The arthritis in Crohn's disease can be divided into two types. The first type affects larger weight-bearing joints such as the knee (most common), hips, shoulders, wrists, or elbows. The second type symmetrically involves five or more of the small joints of the hands and feet. The arthritis may also involve the spine, leading to ankylosing spondylitis if the entire spine is involved or simply sacroiliitis if only the sacroiliac joint is involved. The symptoms of arthritis include painful, warm, swollen, stiff joints, and loss of joint mobility or function.
Crohn's disease may also involve the skin, blood, and endocrine system. The most common type of skin manifestation, erythema nodosum, presents as raised, tender red nodules usually appearing on the shins. Erythema nodosum is due to inflammation of the underlying subcutaneous tissue, and is characterized by septal panniculitis. Another skin lesion, pyoderma gangrenosum, is typically a painful ulcerating nodule. Crohn's disease also increases the risk of blood clots; painful swelling of the lower legs can be a sign of deep venous thrombosis, while difficulty breathing may be a result of pulmonary embolism. Autoimmune hemolytic anemia, a condition in which the immune system attacks the red blood cells, is also more common in Crohn's disease and may cause fatigue, a pale appearance, and other symptoms common in anemia. Clubbing, a deformity of the ends of the fingers, may also be a result of Crohn's disease. Finally, Crohn's disease increases the risk of osteoporosis, or thinning of the bones. Individuals with osteoporosis are at increased risk of bone fractures.
People with Crohn's disease often have anemia due to vitamin B, folate, iron deficiency, or due to anemia of chronic disease. The most common is iron deficiency anemia from chronic blood loss, reduced dietary intake, and persistent inflammation leading to increased hepcidin levels, restricting iron absorption in the duodenum. As Crohn's disease most commonly affects the terminal ileum where the vitamin B12/intrinsic factor complex is absorbed, B12 deficiency may be seen. This is particularly common after surgery to remove the ileum. Involvement of the duodenum and jejunum can impair the absorption of many other nutrients including folate. If Crohn's disease affects the stomach, production of intrinsic factor can be reduced.
Crohn's disease can also cause neurological complications (reportedly in up to 15%). The most common of these are seizures, stroke, myopathy, peripheral neuropathy, headache and depression.
People with Crohn's often also have issues with small bowel bacterial overgrowth syndrome, which has similar symptoms.
In the oral cavity people with Crohn's may develop cheilitis granulomatosa and other forms of orofacial granulomatosis, pyostomatitis vegetans, recurrent aphthous stomatitis, geographic tongue, and migratory stomatitis in higher prevalence than the general population.
Crohn's disease, like many other chronic, inflammatory diseases, can cause a variety of systemic symptoms. Among children, growth failure is common. Many children are first diagnosed with Crohn's disease based on inability to maintain growth. As it may manifest at the time of the growth spurt in puberty, up to 30% of children with Crohn's disease may have retardation of growth. Fever may also be present, though fevers greater than 38.5 °C (101.3 °F) are uncommon unless there is a complication such as an abscess. Among older individuals, Crohn's disease may manifest as weight loss, usually related to decreased food intake, since individuals with intestinal symptoms from Crohn's disease often feel better when they do not eat and might lose their appetite. People with extensive small intestine disease may also have malabsorption of carbohydrates or lipids, which can further exacerbate weight loss.