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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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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.
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.
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.
An arthropathy is a disease of a joint. Arthritis is a form of arthropathy that involves inflammation of one or more joints, while the term arthropathy may be used regardless of whether there is inflammation or not.
Spondylarthropathy is any form of arthropathy of the vertebral column.
Individuals affected by RS3PE typically have repeated episodes of inflammation of the lining of their synovial joints and swelling of the end portion of the limbs. The arms and hands are more commonly affected than the legs and feet. Both sides are usually involved though RS3PE can affect only one side in certain cases.
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.
Arthropathy may also include joint conditions caused by physical trauma to joints, but is traditionally used to describe the following conditions:
- "Reactive arthropathy" (M02-M03) is caused by an infection, but not a direct infection of the synovial space. (See also Reactive arthritis)
- "Enteropathic arthropathy" (M07) is caused by colitis and related conditions.
- "Crystal arthropathy" (also known as "crystal arthritis") (M10-M11) involves the deposition of crystals in the joint.
- In gout, the crystal is uric acid.
- In pseudogout/chondrocalcinosis/calcium pyrophosphate deposition disease, the crystal is calcium pyrophosphate.
- "Diabetic arthropathy" (M14.2, E10-E14) is caused by diabetes.
- "Neuropathic arthropathy" (M14.6) is associated with a loss of .
Jaccoud arthropathy (JA), Jaccoud deformity or Jaccoud's arthopathy is a chronic non-erosive reversible joint disorder that may occur after repeated bouts of arthritis. It is caused by inflammation of the joint capsule and subsequent fibrotic retraction, causing ulnar deviation of the fingers, through metacarpophalangeal joint (MCP) subluxation, primarily of the ring and little-finger. Joints in the feet, knees and shoulders may also get affected. It is commonly associated with systemic lupus erythematosus (SLE), and occurs in roughly 5% of all cases.
When associated with rheumatic fever it is also called chronic post–RF arthropathy.
Originally thought to be associated only with rheumatic fever, it has since been shown to occur also in SLE, Sjögren syndrome, scleroderma, dermatomyositis, psoriatic arthritis, vasculitis, ankylosing spondylitis, mixed connective tissue disease, and pyrophosphate deposition disease. It is distinct from bone erosion which is commonly associated with rheumatic arthritis, and also distinct from mild deforming arthropathy which is associated with SLE. There have also been cases of non-rheumatic JA associated with Lyme disease, HIV-infection and a number of other conditions.
Treatment focuses toward alleviating pain and in maintaining functionality of the affected joints through use of nonsteroidal anti-inflammatory drugs, corticosteroids, antimalarial drugs and physiotherapy. Surgery is also a possibility, with osteotomy or stabilization with Kirschner intramedullary wire. Tendon relocation, however, has been shown to only work in 30% of cases. The condition is named after the French 19th century physician Sigismond Jaccoud.
Treatments for inflammatory arthritis vary by subtype, though they may include drugs like DMARDs (disease-modifying anti-rheumatic drugs) and tumor necrosis factor inhibitors.
Remitting seronegative symmetrical synovitis with pitting edema (abbreviated RS3PE or sometimes RSPE) is a rare syndrome identified by symmetric polyarthritis, synovitis, acute pitting edema (swelling) of the back of the hands and/or feet, and a negative serum rheumatoid factor. If no underlying disorder can be identified (idiopathic RS3PE), this entity has an excellent prognosis and responds well to treatment.
RS3PE typically involves the joints of the extremities, specifically the metacarpophalangeal and proximal interphalangeal joints, wrists, shoulders, elbows, knees and ankles.
It is more common in older adults, with the mean age between 70 and 80 years in most studies.
It occurs more often in men than in women with a 2:1 ratio.
It is unknown how common this condition is.
The clinical presentation varies depending on the stage of the disease from mild swelling to severe swelling and moderate deformity. Inflammation, erythema, pain and increased skin temperature (3–7 degrees Celsius) around the joint may be noticeable on examination. X-rays may reveal bone resorption and degenerative changes in the joint. These findings in the presence of intact skin and loss of protective sensation are pathognomonic of acute Charcot arthropathy.
Roughly 75% of patients experience pain, but it is less than what would be expected based on the severity of the clinical and radiographic findings.
Clinical findings include erythema, edema and increased temperature in the affected joint. In neuropathic foot joints, plantar ulcers may be present. Note that it is often difficult to differentiate osteomyelitis from a Charcot joint, as they may have similar tagged WBC scan and MRI features (joint destruction, dislocation, edema). Definitive diagnosis may require bone or synovial biopsy.
Calcium pyrophosphate dihydrate (CPPD) crystal deposition disease, also known as pseudogout and pyrophosphate arthropathy is a rheumatologic disorder with varied symptoms and signs arising from the resultant accumulation of crystals of calcium pyrophosphate dihydrate in the connective tissues. The alternative names emphasize particular aspects of the clinical or radiographic findings. The knee joint is the most commonly affected.
Patients with trochleitis typically experience a dull fluctuating aching over the trochlear region developing over a few days. Some may also feel occasional sharp pains punctuating the ache. In patients with migraines, trochleitis may occur simultaneously with headache. Presentation is usually unilateral with palpable swelling over the affected area supranasal to the eye. The trochlear region is extremely tender to touch. Pain is exacerbated by eye movements looking down and inwards, and especially in supraduction (looking up) and looking outwards, which stretches the superior oblique muscle tendon. Notably, there is no restriction of extraocular movements, no diplopia, and often no apparent ocular signs such as proptosis. However, occasionally mild ptosis is found. The absence of generalized signs of orbital involvement is helpful in eliminating other more common causes of periorbital pain.
The cause of trochleitis is often unknown (idiopathic trochleitis), but it has been known to occur in patients with rheumatological diseases such as systemic lupus erythematosus, rheumatoid arthritis, enteropathic arthropathy, and psoriasis. In his study, Tychsen and his group evaluated trochleitis patients with echography and CT scan to demonstrate swelling and inflammation. Imaging studies showed inflammation of superior oblique tendon/ trochlear pulley. It was unclear whether the inflammation involved the trochlea itself, or the tissues surrounding the trochlea.
Enteropathic arthropathy or enteropathic arthritis refers to acute or subacute arthritis in association with, or as a reaction to, an enteric (usually colonic) inflammatory condition.
Note that reactive arthritis can also occur secondary to urethral infection. In that case, the term enteropathic arthropathy would not be used.
Hemarthrosis (or haemarthrosis) is a bleeding into joint spaces.
It is a common feature of Hemophilia.
The most common symptoms are diarrhea, abdominal pain, weight loss, and joint pains. The joint pains may be due to migratory non-deforming arthritis, which may occur many years before any digestive tract symptoms develop; they tend to involve the large joints but can occur in any pattern and tend not to damage the joint surface to the point that the joint becomes deformed. Fever and chills occur in a small proportion of people.
In its more advanced form, malabsorption (insufficient absorption of nutrients from the diet) leads to wasting and the enlargement of lymph nodes in the abdomen. Neurological symptoms (discussed below) are more common in those with the severe form of the abdominal disease. Chronic malabsorptive diarrhea leads to the poor absorption of fat, causing steatorrhea (fatty, offensive stool), flatulence, and abdominal distension. Protein-losing enteropathy may also occur, causing depletion of albumin, a blood protein, which may lead to peripheral edema caused by the lowered oncotic pressures.
Hyperpigmentation of the skin occurs in almost half; some also have skin nodules. Various eye problems, such as uveitis, may occur; this is typically associated with deteriorating vision and pain in the affected eye. Endocarditis (infection of the heart valve) has been reported in a small number of cases, sometimes in people with no other symptoms of Whipple's disease; this is typically noticed as breathlessness and leg swelling due to fluid accumulation as the heart is unable to pump fluid through the body.
Of those affected by Whipple's disease, 10–40% of people have problems related to the involvement of the brain; the symptoms relate to the part of the brain that is affected. The most common problems are dementia, memory loss, confusion, and decreased level of consciousness. Eye movement disturbances and myorhythmia (rapidly repetitive movements of the muscles) of the face, together referred to as "oculomasticatory myorhythmia", are highly characteristic for Whipple's disease. Weakness and poor coordination of part of the body, headaches, seizures, as well as a number of more uncommon neurological features, are present in some cases.
It usually follows injury but occurs mainly in patients with a predisposition to hemorrhage such as those being treated with warfarin (or other anticoagulants) and patients with hemophilia.
It can be associated with knee joint arthroplasty.
It has also been reported as a part of hemorrhagic syndrome in the Crimean-Congo Hemorrhagic Fever, suggesting a viral cause to the bleeding in a joint space.
Symptoms may occur immediately after trauma (acute) or develop over time (chronic).
Acute injury is less frequent than chronic disease, but may follow bouts of forcefully raising the arm against resistance, as occurs in weightlifting, for example. In addition, falling forcefully on the shoulder can cause acute symptoms. These traumatic tears predominantly affect the supraspinatus tendon or the rotator interval and symptoms include severe pain that radiates through the arm, and limited range of motion, specifically during abduction of the shoulder.
Chronic tears occur among individuals who constantly participate in overhead activities, such as pitching or swimming, but can also develop from shoulder tendinitis or rotator cuff disease. Symptoms arising from chronic tears include sporadic worsening of pain, debilitation, and atrophy of the muscles, noticeable pain during rest, crackling sensations (crepitus) when moving the shoulder, and inability to move or lift the arm sufficiently, especially during abduction and flexion motions.
Pain in the anterolateral aspect of the shoulder is not specific to the shoulder, and may arise from, and be referred from, the neck, heart or gut.
Patient history will often include pain or ache over the front and outer aspect of the shoulder, pain aggravated by leaning on the elbow and pushing upwards on the shoulder (such as leaning on the armrest of a reclining chair), intolerance of overhead activity, pain at night when lying directly on the affected shoulder, pain when reaching forward (e.g. unable to lift a gallon of milk from the refrigerator). Weakness may be reported, but is often masked by pain and is usually found only through examination. With longer-standing pain, the shoulder is favored and gradually loss of motion and weakness may develop, which, due to pain and guarding, are often unrecognized by the patient and only brought to attention during examination.
Primary shoulder problems may cause pain over the deltoid muscle intensified by abduction against resistance - the impingement sign. This signifies pain arising from the rotator cuff, but cannot distinguish between inflammation, strain, or tear. Patients may report that they are unable to reach upwards to brush their hair or to lift a food can from an overhead shelf.
A combination of postural changes, the growing baby, unstable pelvic joints under the influence of pregnancy hormones, and changes in the centre of gravity can all add to the varying degrees of pain or discomfort. In some cases it can come on suddenly or following a fall, sudden abduction of the thighs (opening too wide too quickly) or an action that has strained the joint.
PGP can begin as early as the first trimester of pregnancy. Pain is usually felt low down over the symphyseal joint, and this area may be extremely tender to the touch. Pain may also be felt in the hips, groin and lower abdomen and can radiate down the inner thighs. Women suffering from PGP may begin to waddle or shuffle, and may be aware of an audible clicking sound coming from the pelvis. PGP can develop slowly during pregnancy, gradually gaining in severity as the pregnancy progresses.
During pregnancy and postpartum, the symphyseal gap can be felt moving or straining when walking, climbing stairs or turning over in bed; these activities can be difficult or even impossible. The pain may remain static, e.g., in one place such as the front of the pelvis, producing the feeling of having been kicked; in other cases it may start in one area and move to other areas. It is also possible that a woman may experience a combination of symptoms.
Any weight bearing activity has the potential of aggravating an already unstable pelvis, producing symptoms that may limit the ability of the woman to carry out many daily activities. She may experience pain involving movements such as dressing, getting in and out of the bath, rolling in bed, climbing the stairs or sexual activity. Pain may also be present when lifting, carrying, pushing or pulling.
The symptoms (and their severity) experienced by women with PGP vary, but include:
- Present swelling and/or inflammation over joint.
- Difficulty lifting leg.
- Pain pulling legs apart.
- Inability to stand on one leg.
- Inability to transfer weight through pelvis and legs.
- Pain in hips and/or restriction of hip movement.
- Transferred nerve pain down leg.
- Can be associated with bladder and/or bowel dysfunction.
- A feeling of the symphysis pubis giving way.
- Stooped back when standing.
- Malalignment of pelvic and/or back joints.
- Struggle to sit or stand.
- Pain may also radiate down the inner thighs.
- Waddling or shuffling gait.
- Audible ‘clicking’ sound coming from the pelvis.
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.
Winchester syndrome is a rare congenital connective tissue disease described in 1969, of which the main characteristics are short stature, marked contractures of joints, opacities in the cornea, coarse facial features, dissolution of the carpal and tarsal bones (in the hands and feet, respectively), and osteoporosis. Winchester syndrome was once considered to be related to a similar condition, multicentric osteolysis, nodulosis, and arthropathy (MONA). However, it was discovered that the two are caused by mutations found in different genes; they are now thought of as two separate disorders. Appearances resemble rheumatoid arthritis. Increased uronic acid is demonstrated in cultured fibroblasts from the skin and to a lesser degree in both parents. Despite initial tests not showing increased mucopolysaccharide excretion, the disease was regarded as a mucopolysaccharidosis. Winchester syndrome is thought to be inherited as an autosomal recessive trait.
Symptoms of Winchester syndrome begin with the deterioration of bone within the hands and feet. This loss of bone causes pain and limited mobility. The abnormalities of the bone spread to other areas of the body, mostly the joints. This causes arthropathy: stiffening of the joints (contractures) and swollen joints. Many people develop osteopenia and osteoporosis throughout their entire body. Due to the damage to the bones, many affected individuals suffer from short stature and bone fractures.
Many individuals experience leathery skin where the skin appears dark and thick. Excessive hair growth is known to be found in these darker areas of the skin (hypertrichosis). The eyes may develop a white or clear covering the cornea (corneal opacities) which can cause problems with vision.