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While ligamentous laxity may be genetic and affect an individual from a very early age, it can also be the result of an injury. Injuries, especially those involving the joints, invariably damage ligaments either by stretching them abnormally or even tearing them.
Loose or lax ligaments in turn are not capable of supporting joints as effectively as healthy ones, making the affected individual prone to further injury as well as compensation for the weakness using other parts of the body. Afflicted individuals may improve over time and lose some of their juvenile hyperlaxity as they age. Individuals over age 40 often have recurrent joint problems and almost always suffer from chronic pain. Back patients with ligamentous laxity in the area of the spine may also experience osteoarthritis and disc degeneration.
In the case of extreme laxity, or hypermobility, affected individuals often have a decreased ability to sense joint position, which can contribute to joint damage. The resulting poor limb positions can lead to the acceleration of degenerative joint conditions. Many hypermobility patients suffer from osteoarthritis, disorders involving nerve compression, chondromalacia patellae, excessive anterior mandibular movement, mitral valve prolapse, uterine prolapse and varicose veins.
The most common initial symptom of wrist osteoarthritis is joint pain. The pain is brought on by activity and increases when there is activity after resting. Other signs and symptoms, as with any joint affected by osteoarthritis, include:
- Morning stiffness, which usually lasts less than 30 minutes. This is also present in patients with rheumatoid arthritis, but in those patients this typically lasts for more than 45 minutes.
- Swelling of the wrist.
- Crepitus (crackling), which is felt when the hand is moved passively.
- Joint locking, where the joint is fixed in an extended position.
- Joint instability.
These symptoms can lead to loss of function and less daily activity.
Ligamentous laxity, or ligament laxity, means loose ligaments. Ligamentous laxity is a cause of chronic body pain characterized by loose ligaments. When this condition affects joints in the entire body, it is called "generalized joint hypermobility", which occurs in about ten percent of the population, and may be genetic. Loose ligaments can appear in a variety of ways and levels of severity. It also does not always affect the entire body. One could have loose ligaments of the feet, but not of the arms.
Someone with ligamentous laxity, by definition, has loose ligaments. Unlike other, more pervasive diseases, the diagnosis does not require the presence of loose tendons, muscles or blood vessels, hyperlax skin or other connective tissue problems. In heritable connective tissue disorders associated with joint hyper-mobility (such as Marfan syndrome and Ehlers–Danlos syndrome types I–III, VII, and XI), the joint laxity usually is apparent before adulthood. However, age of onset and extent of joint laxity are variable in Marfan syndrome, and joint laxity may be confined to the hands alone, as in Ehlers–Danlos syndrome type IV.
Trapeziometacarpal osteoarthritis, also known as carpometacarpal (CMC) osteoarthritis (OA) of the thumb or osteoarthritis at the base of the thumb, is a reparitive joint disease affecting the first carpometacarpal joint (CMC1). This joint is formed by the trapezium bone of the wrist and the first metacarpal bone of the thumb. Because of its relative instability, this joint is a frequent site for osteoarthritis. Carpometacarpal osteoarthritis (CMC OA) of the thumb occurs when the cushioning cartilage of the joint surfaces wears away, resulting in damage of the joint.
The main complaint of patients is pain. Pain at the base of the thumb occurs when moving the thumb and might eventually persist at rest. Other symptoms include stiffness, swelling and loss of strength of the thumb. Treatment options include conservative and surgical therapies.
The primary and most common symptom in patients with CMC OA of the thumb is pain. Pain at the base of the thumb is mainly experienced when moving the thumb or when applying pressure with the thumb. However, in advanced stages of CMC OA, pain might persist at rest. Another prominent symptom is loss of strength of the thumb. Patients struggle to grab or hold an object due to weakening of the thumb. For example, tying a knot or holding a saucepan becomes increasingly difficult.
If patients present themselves with similar symptoms, physicians should also consider De Quervain syndrome, rheumatoid arthritis or flexor carpi radialis and flexor pollicis longus tendinopathy as a possible cause.
Typical signs of CMC OA can be observed from the outside of the hand. For example, the area near the base of the thumb can be swollen and could appear inflamed. Advanced stages of CMC OA can eventually lead to deformity of the thumb. This deformity, also called a ‘zigzag’ deformity, is characterized by a deviation of the thenar eminence towards the middle of the hand, whilst the thumb phalanges overextend. Also a grinding sound, known as crepitus, can be heard when the CMC1 joint is moved.
Wrist osteoarthritis is a group of mechanical abnormalities resulting in joint destruction, which can occur in the wrist. These abnormalities include degeneration of cartilage and hypertrophic bone changes, which can lead to pain, swelling and loss of function. Osteoarthritis of the wrist is one of the most common conditions seen by hand surgeons.
Osteoarthritis of the wrist can be idiopathic, but it is mostly seen as a post-traumatic condition. There are different types of post-traumatic osteoarthritis. Scapholunate advanced collapse (SLAC) is the most common form, followed by Scaphoid Non-union Advanced collapse (SNAC). Other post-traumatic causes such as intra-articular fractures of the distal radius or ulna can also lead to wrist osteoarthritis, but are less common.
Hypermobility generally results from one or more of the following:
- Abnormally shaped ends of one or more bones at a joint
- A Type 1 collagen or other connective tissue defect (as found in Ehlers-Danlos syndrome, Loeys-Dietz syndrome and Marfan syndrome) resulting in weakened ligaments/ligamentous laxity, muscles and tendons. This same defect also results in weakened bones, which may result in osteoporosis and fractures.
- Abnormal joint proprioception (an impaired ability to locate body parts in space and/or monitor an extended joint)
These abnormalities cause abnormal joint stress, meaning that the joints can wear out, leading to osteoarthritis.
The condition tends to run in families, suggesting a genetic basis for at least some forms of hypermobility. The term "double jointed" is often used to describe hypermobility; however, the name is a misnomer and should not be taken literally, as hypermobile joints are not doubled/extra in any sense.
Most people have hypermobility with no other symptoms. Approximately 5% of the healthy population have one or more hypermobile joints. However, people with "joint hypermobility syndrome" are subject to many difficulties. For example, their joints may be easily injured, be more prone to complete dislocation due to the weakly stabilized joint and they may develop problems from muscle fatigue (as muscles must work harder to compensate for weakness in the ligaments that support the joints). Hypermobility syndrome can lead to chronic pain or even disability in severe cases. Musical instrumentalists with hypermobile fingers may have difficulties when fingers collapse into the finger locking position. Or, conversely, they may display superior abilities due to their increased range of motion for fingering, such as in playing a violin or cello.
Hypermobility may be symptomatic of a serious medical condition, such as Stickler Syndrome, Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, rheumatoid arthritis, osteogenesis imperfecta, lupus, polio, Down syndrome, morquio syndrome, cleidocranial dysostosis or myotonia congenita.
Hypermobility has been associated with chronic fatigue syndrome and fibromyalgia. Hypermobility causes physical trauma (in the form of joint dislocations, joint subluxations, joint instability, sprains, etc.). These conditions often, in turn, cause physical and/or emotional trauma and are possible triggers for conditions such as fibromyalgia.
Women with hypermobility may experience particular difficulties when pregnant. During pregnancy, the body releases certain hormones that alter ligament physiology, easing the stretching needed to accommodate fetal growth as well as the birthing process. The combination of hypermobility and pregnancy-related pelvic girdle during pregnancy can be debilitating. The pregnant woman with hypermobile joints will often be in significant pain as muscles and joints adapt to the pregnancy. Pain often inhibits such women from standing or walking during pregnancy. The pregnant patient may be forced to use a bedpan and/or a wheelchair during pregnancy and may experience permanent disability.
Symptoms of hypermobility include a dull but intense pain around the knee and ankle joints and the soles of the feet. The pain and discomfort affecting these body parts can be alleviated by using custom orthoses.
Those with hypermobile joints are more likely to have fibromyalgia, mitral valve prolapse, and anxiety disorders such as panic disorder.
Genu recurvatum is a deformity in the knee joint, so that the knee bends backwards. In this deformity, excessive extension occurs in the tibiofemoral joint. Genu recurvatum is also called knee hyperextension and back knee. This deformity is more common in women and people with familial ligamentous laxity. Hyperextension of the knee may be mild, moderate or severe.
The normal range of motion (ROM) of the knee joint is from 0 to 135 degrees in an adult. Full knee extension should be no more than 10 degrees. In genu recurvatum (back knee), normal extension is increased. The development of genu recurvatum may lead to knee pain and knee osteoarthritis.
People often describe pain as being “inside the knee cap.” The leg tends to flex even when relaxed. In some cases, the injured ligaments involved in patellar dislocation do not allow the leg to flex almost at all.
The following factors may be involved in causing this deformity:
- Inherent laxity of the knee ligaments
- Weakness of biceps femoris muscle
- Instability of the knee joint due to ligaments and joint capsule injuries
- Inappropriate alignment of the tibia and femur
- Malunion of the bones around the knee
- Weakness in the hip extensor muscles
- Gastrocnemius muscle weakness (in standing position)
- Upper motor neuron lesion (for example, hemiplegia as the result of a cerebrovascular accident)
- Lower motor neuron lesion (for example, in post-polio syndrome)
- Deficit in joint proprioception
- Lower limb length discrepancy
- Congenital genu recurvatum
- Cerebral palsy
- Multiple sclerosis
- Muscular dystrophy
- Limited dorsiflexion (plantar flexion contracture)
- Popliteus muscle weakness
- Connective tissue disorders. In these disorders, there are excessive joint mobility (joint hypermobility) problems. These disorders include:
- Marfan syndrome
- Ehlers-Danlos syndrome
- Benign hypermobile joint syndrome
- Osteogenesis imperfecta disease
Signs and symptoms of a dislocation or rotator cuff tear such as:
- Significant pain, which can sometimes be felt past the shoulder, along the arm.
- Inability to move the arm from its current position, particularly in positions with the arm reaching away from the body and with the top of the arm twisted toward the back.
- Numbness of the arm.
- Visibly displaced shoulder. Some dislocations result in the shoulder appearing unusually square.
- No bone in the side of the shoulder showing shoulder has become dislocated.
Tibial plateau fractures typically presents with knee effusion, swelling of the knee soft tissues and inability to bear weight. The knee may be deformed due to displacement and/or fragmentation of the tibia which leads to loss of its normal structural appearance. Blood in the soft tissues and knee joint (hemarthrosis) may lead to bruising and a doughy feel of the knee joint. Due to the tibial plateau's proximity to important vascular (i.e. arteries, veins) and neurological (i.e. nerves such as peroneal and tibial) structures, injuries to these may occur upon fracture. A careful examination of the neurovascular systems is imperative. A serious complication of tibial plateau fractures is compartment syndrome in which swelling causes compression of the nerves and blood vessels inside the leg and may ultimately lead to necrosis or cell death of the leg tissues.
A sprain is a type of acute injury which results from the stretching or tearing of a ligament. Depending on the severity of the sprain, the movement on the joint can be compromised since ligaments aid in the stability and support of joints. Sprains are commonly seen in vulnerable areas such as the wrists, knees, and ankles. They can occur from movements such as falling on an outstretched hand, or a twisting of the ankle or foot.
The severity of a sprain can also be classified:
Grade 1: Only some of the fibers in the ligament are torn, and the injured site is moderately painful and swollen. Function in the joint will be unaffected for the most part.
Grade 2: Many of the ligament fibers are torn, and pain and swelling is moderate. The functionality of the joint is compromised.
Grade 3: The soft tissue is completely torn, and functionality and strength on the joint is completely compromised. In most cases, surgery is needed to repair the damage.
Patients often complain of pain and swelling over the medial aspect of the knee joint. They may also report instability with side-to-side movement and during athletic performance that involves cutting or pivoting.
A Soft tissue injury (STI) is the damage of muscles, ligaments and tendons throughout the body. Common soft tissue injuries usually occur from a sprain, strain, a one off blow resulting in a contusion or overuse of a particular part of the body. Soft tissue injuries can result in pain, swelling, bruising and loss of function (Lovering, 2008)
Symptoms include:
- The child stops using the arm, which is held in extension (or slightly bent) and palm down.
- Minimal swelling.
- All movements are permitted except supination.
- Caused by longitudinal traction with the wrist in pronation, although in a series only 51% of people were reported to have this mechanism, with 22% reporting falls, and patients less than 6 months of age noted to have the injury after rolling over in bed.
Patients often complain of pain and instability at the joint. With concurrent nerve injuries, patients may experience numbness, tingling and weakness of the ankle dorsiflexors and great toe extensors, or a footdrop.
Individuals with Jefferson fractures usually experience pain in the upper neck but no neurological signs. The fracture may also cause damage to the arteries in the neck, resulting in lateral medullary syndrome, Horner's syndrome, ataxia, and the inability to sense pain or temperature.
In rare cases, congenital abnormality may cause the same symptoms as a Jefferson fracture.
It is a congenital subluxation or dislocation of the ulna's distal end, due to malformation of the bones. Sometimes, minor abnormalities of other bone structures, often caused by disease or injury, such as a fracture of the distal end of the radius with upward displacement of the distal fragment. The deformity varies in degree from a slight protrusion of the lower end of the ulna, to complete dislocation of the inferior radio-ulnar joint with marked radial deviation of the hand. Severe deformities are associated with congenital absence or hypoplasia of the radius.
The male:female rate of this disorder is 1:4. The incidence is unknown, and there is no described racial predominance. Even though Madelung's Deformity is considered a congenital disorder, symptoms sometimes aren't seen until adulthood. In most cases, symptoms find their onset during midchildhood. At this age, the relatively slower growth of the ulnar and palmar part of the radius, leads to an increasingly progressive deformity. Pain and deformity are the main symptoms patients present with. Typical clinical presentation consists of a short forearm, anterior-ulnar bow of the radius and a forward subluxation of the hand on the forearm. As mentioned before, the severity of the disorder varies greatly, which also leads to a spectrum of presentation.
A tibial plateau fracture is a break of the upper part of the tibia (shinbone) that involves the knee joint. Symptoms include pain, swelling, and a decreased ability to move the knee. People are generally unable to walk. Complication may include injury to the artery or nerve, arthritis, and compartment syndrome.
The cause is typically trauma such as a fall or motor vehicle collision. Risk factors include osteoporosis and certain sports such as skiing. Diagnosis is typically suspected based on symptoms and confirmed with X-rays and a CT scan. Some fractures may not be seen on plain X-rays.
Pain may be managed with NSAIDs, opioids, and splinting. In those who are otherwise healthy, treatment is generally by surgery. Occasionally, if the bones are well aligned and the ligaments of the knee are intact, people may be treated without surgery.
They represent about 1% of broken bones. They occur most commonly in middle aged males and older females. In the 1920s they were called a "fender fracture" due to their association with people being hit by a motor vehicle while walking.
Madelung's deformity is usually characterized by malformed wrists and wrist bones and is often associated with Léri-Weill dyschondrosteosis. It can be bilateral (in both wrists) or just in the one wrist.
It has only been recognized within the past hundred years.
Humeral avulsion of the glenohumeral ligament (HAGL) is defined as an avulsion (tearing away) of the inferior glenohumeral ligament from the anatomic neck of the humerus. In other words, it occurs when we have disruption of the ligaments that join the humerus to the glenoid.
HAGL tends to occur in 7.5-9.3% of cases of anterior shoulder instability. Making it an uncommon cause of anterior shoulder instability.
Avulsion of this ligamentous complex may occur in three sites: glenoid insertion (40%), the midsubstance (35%) and the humeral insertion (25%).
Common deformities of the knee include:
- Genu varum
- Genu valgum
- Genu recurvatum (Knee hyperextension)
- Knee flexion deformity
- Bipartite patella
A patellar dislocation is a knee injury in which the patella (kneecap) slips out of its normal position. Often the knee is partly bent, painful and swollen. The patella is also often felt and seen out of place. Complications may include a patella fracture or arthritis.
A patellar dislocation typically occurs when the knee is straight and the lower leg is bent outwards when twisting. Occasionally it occurs when the knee is bent and the patella is hit. Commonly associated sports include soccer, gymnastics, and ice hockey. Dislocations nearly always occur away from the midline. Diagnosis is typically based on symptoms and supported by X-rays.
Reduction is generally done by pushing the patella towards the midline while straightening the knee. After reduction the leg is generally splinted in a straight position for a few weeks. This is then followed by physical therapy. Surgery after a first dislocation is generally of unclear benefit. Surgery may be indicated in those who have broken off a piece of bone within the joint or in which the patella has dislocated multiple times.
Patellar dislocations occur in about 6 per 100,000 people per year. They make up about 2% of knee injuries. It is most common in those 10 to 17 years years old. Rates in males and females are similar. Recurrence after an initial dislocation occurs in about 30% of people.