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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 signs and symptoms of ankylosing spondylitis often appear gradually, with peak onset being between 20 and 30 years of age. Initial symptoms are usually a chronic dull pain in the lower back or gluteal region combined with stiffness of the lower back. Individuals often experience pain and stiffness that awakens them in the early morning hours.
As the disease progresses, loss of spinal mobility and chest expansion, with a limitation of anterior flexion, lateral flexion, and extension of the lumbar spine, are seen. Systemic features are common, with weight loss, fever, or fatigue often present. Pain is often severe at rest but may improve with physical activity, but inflammation and pain to varying degrees may recur regardless of rest and movement.
AS can occur in any part of the spine or the entire spine, often with pain referred to one or the other buttock or the back of the thigh from the sacroiliac joint.
Arthritis in the hips and shoulders may also occur. When the condition presents before the age of 18, it is more likely to cause pain and swelling of large lower limb joints, such as the knees. In prepubescent cases, pain and swelling may also manifest in the ankles and feet where heel pain and enthesopathy commonly develop. Less commonly ectasia of the sacral nerve root sheaths may occur.
About 40% of people with AS will also experience inflammation of the anterior chamber of the eye, causing eye pain, redness, floaters and sensitivity to light. This is thought to be due to the association that both AS and uveitis have with the inheritance of the HLA-B27 antigen.
Inflammation of the prostate occurs with increased frequency in men.
Cardiovascular involvement may include inflammation of the aorta, aortic valve insufficiency or disturbances of the heart's electrical conduction system. Lung involvement is characterized by progressive fibrosis of the upper portion of the lung.
Pain, which can vary in severity, is a common symptom in virtually all types of arthritis. Other symptoms include swelling, joint stiffness and aching around the joint(s). Arthritic disorders like lupus and rheumatoid arthritis can affect other organs in the body, leading to a variety of symptoms. Symptoms may include:
- Inability to use the hand or walk
- Stiffness, which may be worse in the morning, or after use
- Malaise and fatigue
- Weight loss
- Poor sleep
- Muscle aches and pains
- Tenderness
- Difficulty moving the joint
It is common in advanced arthritis for significant secondary changes to occur. For example, arthritic symptoms might make it difficult for a person to move around and/or exercise, which can lead to secondary effects, such as:
- Muscle weakness
- Loss of flexibility
- Decreased aerobic fitness
These changes, in addition to the primary symptoms, can have a huge impact on quality of life.
Osteoarthritis is the most common form of arthritis. It can affect both the larger and the smaller joints of the body, including the hands, wrists, feet, back, hip, and knee. The disease is essentially one acquired from daily wear and tear of the joint; however, osteoarthritis can also occur as a result of injury. In recent years, some joint or limb deformities, such as knock-knee or acetabular overcoverage or dysplasia, have also been considered as a predisposing factor for knee or hip osteoarthritis. Osteoarthritis begins in the cartilage and eventually causes the two opposing bones to erode into each other. The condition starts with minor pain during physical activity, but soon the pain can be continuous and even occur while in a state of rest. The pain can be debilitating and prevent one from doing some activities. Osteoarthritis typically affects the weight-bearing joints, such as the back, knee and hip. Unlike rheumatoid arthritis, osteoarthritis is most commonly a disease of the elderly. More than 30 percent of women have some degree of osteoarthritis by age 65. Risk factors for osteoarthritis include prior joint trauma, obesity, and a sedentary lifestyle.
The following conditions are typically included within the group of "seronegative spondylarthropathies":
Some sources also include Behcet's disease and Whipple's disease.
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).
"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.
Ankylosing spondylitis (AS) is a type of arthritis in which there is long term inflammation of the joints of the spine. Typically the joints where the spine joins the pelvis are also affected. Occasionally other joints such as the shoulders or hips are involved. Eye and bowel problems may also occur. Back pain is a characteristic symptom of AS, and it often comes and goes. Stiffness of the affected joints generally worsens over time.
Although the cause of ankylosing spondylitis is unknown, it is believed to involve a combination of genetic and environmental factors. More than 90% of those affected have a specific human leukocyte antigen known as the HLA-B27 antigen. The underlying mechanism is believed to be autoimmune or autoinflammatory. Diagnosis is typically based on the symptoms with support from medical imaging and blood tests. AS is a type of seronegative spondyloarthropathy, meaning that tests show no presence of rheumatoid factor (RF) antibodies. It is also within a broader category known as axial spondyloarthritis.
There is no cure for ankylosing spondylitis. Treatments may improve symptoms and prevent worsening. This may include medication, exercise, and surgery. Medications used include NSAIDs, steroids, DMARDs such as sulfasalazine, and biologic agents such as infliximab.
Between 0.1% and 1.8% of people are affected. Onset is typically in young adults. Males are more often affected than females. The condition was first fully described in the late 1600s by Bernard Connor, but skeletons with ankylosing spondylitis are found in Egyptian mummies. The word is from Greek "ankylos" meaning stiffening, "spondylos" meaning vertebra, and "-itis" meaning inflammation.
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.
Symptoms of inflammatory arthritis include stiffness, pain, and swelling of the joints, restricted motions, and reduced physical strength. Other symptoms may include systemic complaints including fatigue.
Three types of juvenile arthritis exist—juvenile rheumatoid arthritis (JRA), juvenile chronic arthritis (JCA), and juvenile idiopathic arthritis (JIA), of which JRA is the most common.
JRA again can be divided into three main forms: The classification is based upon symptoms, number of joints involved and the presence of certain antibodies in the blood.
1. Polyarticular arthritis is the first type of arthritis, which affects about 30–40% of children with arthritis and is more common in girls than boys. Typically five or more joints are affected (usually smaller joints such as the hands and feet but many also affect the hips, neck, shoulders and jaw).
2. Oligoarticular (aka pauciarticular) arthritis can be early or late onset and is the second type of arthritis, affecting about 50% of children with juvenile arthritis. This type affects fewer than four joints (usually the large joints such as knees, ankles or wrists) and may cause eye inflammation in girls with positive anti-nuclear antibodies (ANA). Girls younger than eight are more likely to develop this type of arthritis.
3. Systemic disease is the least common form, with 10–20% of children (boys and girls equally) being affected with limited movement, swelling and pain in at least one joint. A common symptom of this type is a high, spiking fever of or higher, lasting for weeks or months, and a rash of pale red spots on the chest, thighs or other parts of the body may be visible.
Treatments for inflammatory arthritis vary by subtype, though they may include drugs like DMARDs (disease-modifying anti-rheumatic drugs) and tumor necrosis factor inhibitors.
In most cases, juvenile arthritis is caused by the body attacking its own healthy cells and tissues, i.e. autoimmunity, causing the joint to become inflamed and stiff. Once the joint has become inflamed and stiff, damage is done to the joint and the growth of the joint may by changed or impaired.
Systemic JIA is characterized by arthritis, fever, which typically is higher than the low-grade fever associated with polyarticular and a salmon pink rash. It accounts for 10-20% of JIA and affects males and females equally, unlike the other two subtypes of JIA, and affects adolescents. It generally involves both large and small joints. Systemic JIA can be challenging to diagnose because the fever and rash come and go. Fever can occur at the same time every day or twice a day (often in late afternoon or evening) with a spontaneous rapid return to baseline (vs. septic arthritis of continuous fever). The rash often occurs with fever. It is a discrete, salmon-pink macules of different sizes. It migrates to different locations on skin, rarely persisting in one location more than one hour. The rash is commonly seen on trunk and proximal extremities or over pressure areas.
Arthritis is often absent in the first weeks or even 6–8 months into the illness.
Systemic JIA may have internal organ involvement such as hepatosplenomegaly, lymphadenopathy, serositis, hepatitis, or tenosynovitis.
A polymorphism in macrophage migration inhibitory factor has been associated with this condition.
People suffering from sacroiliitis can often experience symptoms in a number of different ways, however it is commonly related to the amount of pressure that is put onto the sacroiliac joint. Sacroiliitis pain is typically axial, meaning that the location of the condition is also where the pain is occurring. Symptoms commonly include prolonged, inflammatory pain in the lower back region, hips or buttocks.
However, in more severe cases, pain can become more radicular and manifest itself in seemingly unrelated areas of the body including the legs, groin and feet.
Symptoms are typically aggravated by:
- Transitioning from sitting to standing
- Walking or standing for extended periods of time
- Running
- Climbing stairs
- Taking long strides
- rolling over in bed
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.
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.
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.
Systemic-onset juvenile idiopathic arthritis (also known as systemic juvenile idiopathic arthritis (sJIA) or the juvenile onset form of Still's disease) is a type of juvenile idiopathic arthritis (JIA) with extra-articular manifestations like fever and rash apart from arthritis. It was originally called systemic-onset juvenile rheumatoid arthritis or Still's disease.
Predominantly extra-articular manifestations like high fevers, rheumatic rash, enlargement of the liver and spleen, enlargement of the lymph nodes, and anemia. Others manifestations include inflammation of the pleura, inflammation of the pericardium, inflammation of the heart's muscular tissue, and inflammation of the peritoneum are also seen.
It is sometimes called "juvenile-onset Still's disease", to distinguish it from adult-onset Still's disease. However, there is some evidence that the two conditions are closely related.
Enthesitis can assist in differentiating arthritis mutilans' parent condition psoriatic arthritis from rheumatoid arthritis and osteoarthritis, with evidence in plain radiographs (x-rays) and MRI as periostitis, new bone formation, and bone erosions. Dactylitis, spondylitis and sacroiliitis are common with the parent condition psoriatic arthritis, but are not in rheumatoid arthritis. MRI bone edema scores are high in arthritis mutilans and correlate with radiographic measures of joint damage, although they may not correlate with disease activity. A source of significant pain, bone marrow edema (or lesions, using newer terminology), can be detected on MRI or with ultrasonography by signals of excessive water in bone marrow. Specifically, bone marrow edema can be detected within bone on T1-weighted images as poorly defined areas of low signal, with a high signal on T2-weighted fat-suppressed images. Comparatively, with arthritis mutilans in "rheumatoid arthritis", bone marrow edema often involves the bone layer, while the condition as a subtype of "psoriatic arthritis" includes a greater extent of marrow edema, expanding to diaphysis.
Sacroiliitis is a condition caused by inflammation within the sacroiliac joint. This joint is located where the base of the spine, known as the sacrum, and the pelvis, known as the ilium, intersect. "Itis" is a latin term denoting inflammation.
Since sacroiliitis can describe any type of inflammation found within the sacroiliac joint, there can be a number of issues that cause it. These include:
- Degenerative arthritis, or osteoarthritis of the spine, can cause degeneration within the sacroiliac joints and lead to inflammation and joint pain.
- Any form of spondyloarthropathies, which includes ankylosing spondylitis, psoriatic arthritis, reactive arthritis or arthritis related to inflammatory bowel diseases, including ulcerative colitis or Crohn's disease.
- Pregnancy can cause inflammation as a result of the widening and stretching of the sacroiliac joints to prepare for childbirth. Additionally, the added weight carried during childbearing can put an extra amount of stress on the SI joints, leading to abnormal wear.
- Traumatic injury such as a fall or car crash that affects the lower back, hips, buttocks or legs.
- Though rare, infection within the sacroiliac joints or another part of the body, such as a urinary tract infection, can cause inflammation.
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.
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.
Many rheumatic disorders of chronic, intermittent joint pain have historically been caused by infectious diseases. Their etiology was unknown until the 20th century and not treatable, like Lyme disease (in the Northern and Northeastern US), coccidiomycosis or Valley fever (in the Western US), and Chikungunya in India and a myriad of causes for postinfectious arthritis also known as reactive arthritis like, for example, the once very common rheumatic fever after Group A Streptococcus infection up to the rare Whipple's disease.
Major rheumatic disorders currently recognized include
- Back pain
- Bursitis/Tendinitis of the shoulder, wrist, biceps, leg, knee cap (patella), ankle, hip, and Achilles tendon
- Capsulitis
- Neck pain
- Osteoarthritis
- Palindromic rheumatism has been theorized to be a form of rheumatoid arthritis.
Although these disorders probably have little in common in terms of their epidemiology, they do share three characteristics: they cause chronic, often intermittent pain, they are difficult to treat and are collectively very common.
Rheumatic diseases caused by autoimmunity include:
- Ankylosing spondylitis
- relapsing polychondritis
- systemic lupus erythematosus
- rheumatoid arthritis
- gout, inflammatory arthritis, pseudogout
- juvenile arthritis
- Sjögren syndrome
- scleroderma
- Polymyositis
- Dermatomyositis
- Behçet's disease
- Psoriatic arthritis
The disorder is more common in older adults. The disease is often occult until crystal deposits are coincidentally detected and diagnosed by a pathologist in various orthopedic specimens. It may be asymptomatic, or it can be associated with osteoarthritis, or it can present as an acute or chronic inflammatory arthritis that causes pain in one or more joints. The white blood cell count is often raised.
The arthritis is usually polyarticular (i.e., it leads to an inflammation of several joints in the body), although it may begin as monoarticular (i.e., confined to just one joint). CPPD crystals tend to form within articular tissues. In theory, any joint may be affected, but statistics show that the knees are the most commonly affected joints, as well as wrists and hips.
In many instances, patients may also have signs of carpal tunnel syndrome. This condition can also be associated with Milwaukee shoulder syndrome.
Pott's disease is a tuberculous disease of the vertebrae marked by stiffness of the vertebral column, pain on motion, tenderness on pressure, prominence of certain vertebral spines, and occasionally abdominal pain, abscess formation, and paralysis.
Ankylosing spondylitis is an inflammatory disease involving the spine and sacroiliac joints, and is therefore also a form of spondylarthritis.
A combination of spondylitis and inflammation of the intervertebral disc space is termed a spondylodiscitis.
Spondylitis is one of the most common causes of back and neck pain, and results from inflammation of the vertebral joints. The condition is often not detected until it has fully developed and is causing pain. The pain is usually concentrated around the cervical region of the neck, shoulder and lower spine, with downward-moving stinging pain. Types of spondylitis include: cervical spondylitis – which affects the cervical spine, causing pain to spread the back of the neck; lumbar spondylitis – which causes pain in the lumbar region; and ankylosing spondylitis- which is primarily a disease that affects the sacroiliac joints, causing stiffness in the neck, jaw, shoulders, hips and knees.