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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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In clubfoot one or both feet are rotated inwards and downwards. The affected foot, calf, and leg may be smaller than the other. In about half of those affected, both feet are involved. Most cases are not associated with other problems. Without treatment, people walk on the sides of their feet which causes issues with walking.
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.
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.
Ape hand deformity, also known as simian hand, is a deformity in humans who cannot move the thumb away from the rest of the hand. It is an inability to abduct the thumb. Abduction of the thumb refers to the specific capacity to orient the thumb perpendicularly to the ventral (palmar) surface of the hand. Opposition refers specifically the ability to "swing" the first metacarpal such that the tip of the thumb may touch the distal end of the 5th phalanx and if we put the hand on the table as the palm upward the thumb can not point to the sky. The Ape Hand Deformity is caused by damage to the distal median nerve (also called a Median Claw lesion), and subsequent loss of opponens pollicis muscle function. The name "ape hand deformity" is misleading, as apes have opposable thumbs.
It can occur with an injury of the median nerve either at the elbow or the wrist, impairing the thenar muscles and opponens pollicis muscle.
Ape hand deformity is one aspect of median nerve palsy, which is usually caused by deep injuries to the arm, forearm and wrist area.
Ape hand caused by median and ulnar nerve lesions
Diagnosing the congenital clasped thumb is difficult in the first three to four months of life, as it is normal when the thumb is clutched into the palm in these first months.
Diagnoses that cause the same flexion or adduction abnormalities of the thumb are:
- Congenital clasped thumb
- Congenital Trigger thumb (flexion of the interphalangeal joint) - Trigger finger
- Spasticity: overstimulation of muscles
Syndrome associated flexion-adduction of the thumb:
- Freeman-Sheldon syndrome (a congenital, heritable affection of the face, the hands, the feet and some joints)
- Distal arthrogryposis
- MASA syndrome
- X-linked hydrocephalus
- Adducted thumb syndrome
- Waardenburg syndrome
- Whistling face syndrome (Freeman-Sheldon syndrome)
- Digitotalar dysmorphism
- Multiple pterygium syndrome
Clubfoot is a birth defect where one or both feet are rotated inwards and downwards. The affected foot, calf, and leg may be smaller than the other. In about half of those affected, both feet are involved. Most cases are not associated with other problems. Without treatment, people walk on the sides of their feet which causes issues with walking.
The exact cause is usually unclear. A few cases are associated with distal arthrogryposis or myelomeningocele. If one identical twin is affected there is a 33% chance the other one will be as well. Diagnosis may occur at birth or before birth during an ultrasound exam.
Initial treatment is most often with the Ponseti method. This involves moving the foot into an improved position followed by casting, which is repeated at weekly intervals. Once the inward bending is improved, the Achilles tendon is often cut and braces are worn until the age of four. Initially the brace is worn nearly continuously and then just at night. In about 20% of cases further surgery is required.
Clubfoot occurs in about one in 1,000 newborns. The condition is less common among the Chinese and more common among Maori. Males are affected about twice as often as females. Treatment can be carried out by a range of healthcare providers and can generally be achieved in the developing world with few resources.
Characteristics are:
- A fibrous band instead of the fibula
- Short deformed leg
- Absence of the lateral part of the ankle joint (due to absence of the distal end of the fibula), and what is left is unstable; the foot has an equinovalgus deformity
- Possible absence of part of the foot requiring surgical intervention to bring the foot into normal function, or amputation.
- Possible absence of one or two toes on the foot
- Possible conjoined toes or metatarsals
Partial or total absence of fibula is among the most frequent limb anomalies. It is the most common long bone deficiency and is the most common skeletal deformity in the leg. It most often is unilateral (present only on one side). It may also present as bilateral (affecting both legs). Paraxial fibular hemimelia is the most common manifestation in which only the postaxial portion of the limb is affected. It is commonly seen as a complete terminal deficiency, where the lateral rays of the foot are also affected. Hemimelia can also be intercalary in which case the foot remains unaffected. Although the missing bone is easily identified, this condition is not simply a missing bone. Males are affected twice as often as females in most series.
Hammer toe most frequently results from wearing poorly fitting shoes that can force the toe into a bent position, such as excessively high heels or shoes that are too short or narrow for the foot. Having the toes bent for long periods of time can cause the muscles in them to shorten, resulting in the hammer toe deformity. This is often found in conjunction with bunions or other foot problems (e.g., a bunion can force the big toe to turn inward and push the other toes). It can also be caused by muscle, nerve, or joint damage resulting from conditions such as osteoarthritis, rheumatoid arthritis, stroke, Charcot–Marie–Tooth disease, complex regional pain syndrome or diabetes. Hammer toe can also be found in Friedreich's ataxia (GAA trinucleotide repeat).
The thumb contains five groups of muscle and/or tendons:
1. Extensor tendons (to stretch the thumb)
2. Flexor muscles/tendons (to bend the thumb)
3. Abductor muscles/tendons (to move the thumb outwards)
4. Adductor muscle (to move the thumb inwards)
5. Opposing muscles (to move the thumb opposite the small finger)
In order for the thumb to maintain a normal position, a strict balance between these groups is required. Weak or absent extensors and/or abductors (the extensor pollicis brevis tendon, the extensor pollicis longus tendon or, rarely, the abductor pollicis longus tendon), can cause a disbalance, leading to an abnormal position of the thumb: congenital clasped thumb. There is also the possibility that two tendons are affected simultaneously.
The following tendon deviations can induce congenital clasped thumb:
- The flexor tendons are too short (the thumb is drawn into the palm)
- The abductor tendons are hypoplastic or absent
- The extensor tendons are hypoplastic or absent
Furthermore, a tight thumb web space (the area between thumb and index finger) can contribute to congenital clasped thumb. The thumb cannot be properly abducted (moved outwards), if the web space is too tight.
To summarize, the causes of congenital clasped thumbs may vary between patients and can sometimes be a combination of the preceding components. Treatment should be tailored to all occurring components in order to achieve good results.
Instances in which the medial epicondyle of the distal humerus is malformed due to the initial fracture at the humeral endplate may result in subluxation (snapping) of the ulnar nerve over the medial epicondyle with active flexion and extension of the elbow. In such instances, conductance of the ulnar nerve may be compromised due to chronic irritation, potentially resulting in irreversible ulnar neuropathy.
Ulnar deviation, also known as ulnar drift, is a hand deformity in which the swelling of the metacarpophalangeal joints (the big knuckles at the base of the fingers) causes the fingers to become displaced, tending towards the little finger. Its name comes from the displacement toward the ulna (as opposed to radial deviation, in which fingers are displaced toward the radius). Ulnar deviation is likely to be a characteristic of rheumatoid arthritis, more than of osteoarthritis. Consideration should also be given to Pigmented Villonodular Synovitis, in the setting of ulnar deviation and metacarpophalangeal synovitis.
Ulnar deviation is also a physiological movement of the wrist, where the hand including the fingers move towards the ulna.
Ulnar deviation is a disorder in which flexion by ulnar nerve innervated muscles is intact while flexion on the median nerve side is not.
A hammer toe or contracted toe is a deformity of the proximal interphalangeal joint of the second, third, or fourth toe causing it to be permanently bent, resembling a hammer. Mallet toe is a similar condition affecting the distal interphalangeal joint.
Claw toe is another similar condition, with dorsiflexion of the proximal phalanx on the lesser metatarsophalangeal joint, combined with flexion of both the proximal and distal interphalangeal joints. Claw toe can affect the second, third, fourth, or fifth toes.
Cubitus varus (varus means a deformity of a limb in which part of it is deviated towards the midline of the body) is a common deformity in which the extended forearm is deviated towards midline of the body.
Cubitus varus is often referred to as "Gunstock deformity", due to the crooked nature of the healing.
The "opposite" condition is cubitus valgus.
Fibular hemimelia or longitudinal fibular deficiency is "the congenital absence of the fibula and it is the most common congenital absence of long bone of the extremities." It is the shortening of the fibula at birth, or the complete lack thereof. In humans, the disorder can be noted by ultrasound in utero to prepare for amputation after birth or complex bone lengthening surgery. The amputation usually takes place at six months with removal of portions of the legs to prepare them for prosthetic use. The other treatments which include repeated corrective osteotomies and leg-lengthening surgery (Ilizarov apparatus) are costly and associated with residual deformity.
If a child is sickly, either with rickets or any other ailment that prevents ossification of the bones, or is improperly fed, the bowed condition may persist. Thus the chief cause of this deformity is rickets. Skeletal problems, infection, and tumors can also affect the growth of the leg, sometimes giving rise to a one-sided bow-leggedness. The remaining causes are occupational, especially among jockeys, and from physical trauma, the condition being very likely to supervene after accidents involving the condyles of the femur.
Children until the age of 3 to 4 have a degree of Genu Varum. The child sits with the soles of the feet facing one another; the tibia and femur are curved outwards; and, if the limbs are extended, although the ankles are in contact, there is a distinct space between the knee-joints. During the first year of life, a gradual change takes place. The knee-joints approach one another; the femur slopes downward and inward towards the knee joints; the tibia become straight; and the sole of the foot faces almost directly downwards.
While these changes are occurring, the bones, which at first consist principally of cartilage, are gradually becoming ossified. By the time a normal child begins to walk, the lower limbs are prepared, both by their general direction and by the rigidity of the bones which form them, to support the weight of the body.
An equinovalgus is a deformity of the human foot. It may be a flexible deformity or a fixed deformity. Equino- means plantarflexed (as in standing on one's toes), and valgus means that the base of the heel is rotated away from the midline of the foot (eversion) and abduction of foot. This means that the patient is placing his/her weight on the medial border of the foot, and the arch of the foot is absent, which distorts the foot's normal shape.
Equinovalgus mostly occurs due to tightness of plantar flexors (calf muscles) and peroneus group of muscles.
Volkmann's contracture is a permanent flexion contracture of the hand at the wrist, resulting in a claw-like deformity of the hand and fingers. Passive extension of fingers is restricted and painful.
This is a very rare situation, in which the extra digit is on the ring, middle or index finger. Of these fingers, the index finger is most often affected, whereas the ring finger is rarely affected.
This type of polydactyly can be associated with syndactyly, cleft hand and several syndromes.
Polysyndactyly presents various degrees of syndactyly affecting fingers three and four.
Swan neck deformity has many possible causes arising from the DIP, PIP, or even the MCP joints. In all cases, there is a stretching of the volar plate at the PIP joint to allow hyperextension, plus some damage to the attachment of the extensor tendon to the base of the distal phalanx that produces a hyperflexed mallet finger. Duck bill deformity is a similar condition affecting the thumb (which cannot have true swan neck deformity because it does not have enough joints).
The classification of ulnar polydactyly exists of either two or three types. The two-stage classification, according to Temtamy and McKusick, involves type A and B. In type A there is an extra little finger at the metacarpophalangeal joint, or more proximal including the carpometacarpal joint. The little finger can be hypoplastic or fully developed. Type B varies from a nubbin to an extra, non-functional little finger part on a pedicle. According to the three-type classification, type I includes nubbins or floating little fingers, type II includes duplications at the MCPJ, and type III includes duplications of the entire ray.
Any fracture in elbow region or upper arm may lead to Volkmann's ischemic contracture, but it is especially associated with supracondylar fracture of the humerus.
Volkmann's contracture results from acute ischaemia and necrosis of the muscle fibres of the flexor group of muscles of the forearm, especially the flexor digitorum profundus and flexor pollicis longus. The muscles become fibrotic and shortened.
The condition is caused by obstruction on the brachial artery near the elbow, possibly from improper use of a tourniquet, improper use of a plaster cast, or compartment syndrome. It is also caused by fractures of the forearm bones if they cause bleeding from the major blood vessels of the forearm.
Swan neck deformity is a deformed position of the finger, in which the joint closest to the fingertip is permanently bent toward the palm while the nearest joint to the palm is bent away from it (DIP flexion with PIP hyperextension). It is commonly caused by injury or inflammatory conditions like rheumatoid arthritis or sometimes familial (congenital, like Ehlers-Danlos syndrome).
Camptodactyly is a medical condition that causes one or more fingers to be permanently bent. It involves fixed flexion deformity of the proximal interphalangeal joints. The fifth finger is always affected.
Camptodactyly can be caused by a genetic disorder. In that case, it is an autosomal dominant trait that is known for its incomplete genetic expressivity. This means that when a person has the genes for it, the condition may appear in both hands, one, or neither. A linkage scan proposed that the chromosomal locus of camptodactyly was 3q11.2-q13.12.
Cubitus valgus is a medical deformity in which the forearm is angled away from the body to a greater degree than normal when fully extended. A small degree of cubitus valgus (known as the carrying angle) is acceptable and occurs in the general population.
When present at birth, it can be an indication of Turner syndrome or Noonan syndrome. It can also be acquired through fracture or other trauma. The physiological cubitus valgus varies from 3° to 29°. Women usually have a more pronounced Cubitus valgus than men. The deformity can also occur as a complication of fracture of the lateral condyle of the humerus, which may lead to tardy/delayed ulnar nerve palsy.
The opposite condition is cubitus varus ().