Made by DATEXIS (Data Science and Text-based Information Systems) at Beuth University of Applied Sciences Berlin
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)
Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
People with pectus carinatum usually develop normal hearts and lungs, but the malformation may prevent these from functioning optimally. In moderate to severe cases of pectus carinatum, the chest wall is rigidly held in an outward position. Thus, respirations are inefficient and the individual needs to use the accessory muscles for respiration, rather than normal chest muscles, during strenuous exercise. This negatively affects gas exchange and causes a decrease in stamina. Children with pectus malformations often tire sooner than their peers, due to shortness of breath and fatigue. Commonly concurrent is mild to moderate asthma.
Some children with pectus carinatum also have scoliosis (i.e., curvature of the spine). Some have mitral valve prolapse, a condition in which the heart mitral valve functions abnormally. Connective tissue disorders involving structural abnormalities of the major blood vessels and heart valves are also seen. Although rarely seen, some children have other connective tissue disorders, including arthritis, visual impairment and healing impairment.
Apart from the possible physiologic consequences, pectus malformations can have a significant psychologic impact. Some people, especially those with milder cases, live happily with pectus carinatum. For others, though, the shape of the chest can damage their self-image and confidence, possibly disrupting social connections and causing them to feel uncomfortable throughout adolescence and adulthood. As the child grows older, bodybuilding techniques may be useful for balancing visual impact.
A less common variant of pectus carinatum is "pectus arcuatum" (also called type 2 pectus excavatum, chondromanubrial malformation or Currarino–Silverman syndrome or pouter pigeon malformation), which produces a manubrial and upper sternal protrusion, particularly also at the sternal angle. Pectus arcuatum is often confused with a combination of pectus carinatum and pectus excavatum, but in pectus arcuatum the visual appearance is characterized by a protrusion of the costal cartilages and there is no depression of the sternum.
Pectus carinatum is an overgrowth of costal cartilage causing the sternum to protrude forward. It primarily occurs among four different patient groups, and males are more frequently affected than females. Most commonly, pectus carinatum develops in 11-to-14-year-old pubertal males undergoing a growth spurt. Some parents report that their child's pectus carinatum seemingly popped up overnight. Second most common is the presence of pectus carinatum at or shortly after birth. The condition may be evident in newborns as a rounded anterior chest wall. As the child reaches age 2 or 3 years of age, the outward sternal protrusion becomes more pronounced. Pectus carinatum can also be caused by vitamin D deficiency in children (Rickets) due to deposition of unmineralized osteoid. Least common is a pectus carinatum malformation following open-heart surgery or in children with poorly controlled bronchial asthma.
Pectus carinatum is generally a solitary, non-syndromic abnormality. However, the condition may be present in association with other syndromes: Turner syndrome, Noonan syndrome, Loeys-Dietz syndrome, Marfan syndrome, Ehlers-Danlos syndrome, Morquio syndrome, trisomy 18, trisomy 21, homocystinuria, osteogenesis imperfecta, multiple lentigines syndrome (LEOPARD syndrome), Sly syndrome (mucopolysaccharidosis type VII), and scoliosis.
In about 25% of cases of pectus carinatum, the patient has a family member with the condition.
The hallmark of the condition is a sunken appearance of the sternum. The most common form is a cup-shaped concavity, involving the lower end of the sternum; also a broader concavity involving the upper costal cartilages is possible. The lower-most ribs may protrude ("flared ribs"). Pectus excavatum defects may be symmetric or asymmetric.
People may also experience chest and back pain, which is usually of musculoskeletal origin.
In mild cases, cardiorespiratory function is normal, although the heart can be displaced and/or rotated. In severe cases, mitral valve prolapse may be present and physical capability may be limited due to base lung capacity being decreased.
Psychological symptoms manifest with feelings of embarrassment, social anxiety, shame, limited capacity for activities and communication, negativity, intolerance, frustration, and even depression.
Signs one may have a broken rib are:
- Pain on inhalation
- Swelling in chest area
- Bruise in chest area
- Increasing shortness of breath
- Coughing up blood (rib may have damaged lung)
Because children have more flexible chest walls than adults do, their ribs are more likely to bend than to break; therefore the presence of rib fractures in children is evidence of a significant amount of force and may indicate severe thoracic injuries such as pulmonary contusion. Rib fractures are also a sign of more serious injury in elderly people.
Breath sounds on the side of the rupture may be diminished, respiratory distress may be present, and the chest or abdomen may be painful. Orthopnea, dyspnea which occurs when lying flat, may also occur, and coughing is another sign. In people with herniation of abdominal organs, signs of intestinal blockage or sepsis in the abdomen may be present. Bowel sounds may be heard in the chest, and shoulder or epigastric pain may be present. When the injury is not noticed right away, the main symptoms are those that indicate bowel obstruction.
Rib fractures can occur with or without direct trauma during recreational activity. Cardiopulmonary resuscitation (CPR) has also been known to cause thoracic injury, including but not limited to rib and sternum fractures. They can also occur as a consequence of diseases such as cancer or rheumatoid arthritis. While for elderly individuals a fall can cause a rib fracture, in adults automobile accidents are a common event for such an injury.
Pectus excavatum is a congenital deformity of the anterior thoracic wall in which the sternum and rib cage grow abnormally. This produces a caved-in or sunken appearance of the chest. It can either be present at birth or not develop until puberty.
Pectus excavatum is sometimes considered to be cosmetic, but depending on the severity, it can impair cardiac and respiratory function and cause pain in the chest and back.
People with the condition may experience negative psychosocial effects, and avoid activities that expose the chest in some societies.
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.
Diaphragmatic rupture (also called diaphragmatic injury or tear) is a tear of the diaphragm, the muscle across the bottom of the ribcage that plays a crucial role in respiration. Most commonly, acquired diaphragmatic tears result from physical trauma. Diaphragmatic rupture can result from blunt or penetrating trauma and occurs in about 5% of cases of severe blunt trauma to the trunk.
Diagnostic techniques include X-ray, computed tomography, and surgical techniques such as laparotomy. Diagnosis is often difficult because signs may not show up on X-ray, or signs that do show up appear similar to other conditions. Signs and symptoms included chest and abdominal pain, difficulty breathing, and decreased lung sounds. When a tear is discovered, surgery is needed to repair it.
Injuries to the diaphragm are usually accompanied by other injuries, and they indicate that more severe injury may have occurred. The outcome often depends more on associated injuries than on the diaphragmatic injury itself. Since the pressure is higher in the abdominal cavity than the chest cavity, rupture of the diaphragm is almost always associated with herniation of abdominal organs into the chest cavity, which is called a traumatic diaphragmatic hernia. This herniation can interfere with breathing, and blood supply can be cut off to organs that herniate through the diaphragm, damaging them.
Sprengel's deformity (also known as high scapula or congenital high scapula) is a rare congenital skeletal abnormality where a person has one shoulder blade that sits higher on the back than the other. The deformity is due to a failure in early fetal development where the shoulder fails to descend properly from the neck to its final position. The deformity is commonly associated with other conditions, most notably Klippel-Feil syndrome, congenital scoliosis including cervical scoliosis, fused ribs, the presence of an omovertebral bone and spina bifida. The left shoulder is the most commonly affected shoulder but the condition can be bilateral, meaning that both shoulders are affected. About 75% of all observed cases are girls. Treatment includes surgery in early childhood and physical therapy. Surgical treatment in adulthood is complicated by the risk of nerve damage when removing the omovertebral bone and when stretching the muscle tissue during relocation of the shoulder.
The scapula is small and rotated so that its inferior edge points toward the spine. There is a high correlation between Sprengel's deformity and the Klippel-Feil syndrome. Sometimes a bony connection is present between the elevated scapula and one of the cervical vertebrae, usually C5 or C6. This connection is known as the omovertebral bone.
Signs and symptoms include crepitus (a crunching sound made when broken bone ends rub together), pain, tenderness, bruising, and swelling over the fracture site. The fracture may visibly move when the person breathes, and it may be bent or deformed, potentially forming a "step" at the junction of the broken bone ends that is detectable by palpation. Associated injuries such as those to the heart may cause symptoms such as abnormalities seen on electrocardiograms.
The upper and middle parts of the sternum are those most likely to fracture, but most sternal fractures occur below the sternal angle.
A cervical rib in humans is an extra rib which arises from the seventh cervical vertebra. Sometimes known as "neck ribs", their presence is a congenital abnormality located above the normal first rib. A cervical rib is estimated to occur in 0.2% (1 in 500 people) to 0.5% of the population. People may have a cervical rib on the right, left or both sides.
Most cases of cervical ribs are not clinically relevant and do not have symptoms; cervical ribs are generally discovered incidentally. However, they vary widely in size and shape, and in rare cases, they may cause problems such as contributing to thoracic outlet syndrome, because of pressure on the nerves that may be caused by the presence of the rib.
A cervical rib represents a persistent ossification of the C7 lateral costal element. During early development, this ossified costal element typically becomes re-absorbed. Failure of this process results in a variably elongated transverse process or complete rib that can be anteriorly fused with the T1 first rib below.
On imaging, cervical ribs can be distinguished because their transverse processes are directed inferolaterally, whereas those of the adjacent thoracic spine are directed anterolaterally.
A sternal fracture is a fracture of the sternum (the breastbone), located in the center of the chest. The injury, which occurs in 5–8% of people who experience significant blunt chest trauma, may occur in vehicle accidents, when the still-moving chest strikes a steering wheel or dashboard or is injured by a seatbelt. Cardiopulmonary resuscitation, commonly known as CPR, has also been known to cause thoracic injury, including sternum and rib fractures. Sternal fractures may also occur as a pathological fracture, in people who have weakened bone in their sternum, due to another disease process. Sternal fracture can interfere with breathing by making it more painful; however, its primary significance is that it can indicate the presence of serious associated internal injuries, especially to the heart and lungs.
The presence of a cervical rib can cause a form of thoracic outlet syndrome due to compression of the lower trunk of the brachial plexus or subclavian artery. These structures become encroached upon by the cervical rib and scalene muscles.
Compression of the brachial plexus may be identified by weakness of the muscles around the muscles in the hand, near the base of the thumb. Compression of the subclavian artery is often diagnosed by finding a positive Adson's sign on examination, where the radial pulse in the arm is lost during abduction and external rotation of the shoulder. A positive Adson's sign is non-specific for the presence of a cervical rib however, as many individuals without a cervical rib will have a positive test.
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.
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.
Gibbus deformity is a form of structural kyphosis typically found in the upper lumbar and lower thoracic vertebrae, where one or more adjacent vertebrae become wedged. Gibbus deformity most often develops in young children as a result of spinal tuberculosis and is the result of collapse of vertebral bodies. This can in turn lead to spinal cord compression causing paraplegia.
In addition to tuberculosis, other possible causes of gibbus deformity include pathological diseases, hereditary and congenital conditions, and physical trauma to the spine that results in injury. Gibbus deformity may result from the sail vertebrae associated with cretinism (the childhood form of hypothyroidism), mucopolysaccharidosis (MPS), and certain congenital syndromes, including achondroplasia. Because most children with MPS I (Hurler Syndrome) also exhibit symptoms of a gibbus deformity, the latter can possibly be used to identify the former.
Gibbus deformity is included in a subset of structural kyphosis that is distinguished by a higher-degree angle in the spinal curve that is specific to these forms of kyphosis. Other conditions within this subset include Pott’s disease and Scheuermann kyphosis, but gibbus deformity is marked by an especially sharp angle. Viewed from behind, the resulting hunchback is more easily seen when bending forward. A kyphosis of >70° can be an indication of the need for surgery and these surgeries can be necessary for children as young as two years old, with a reported average of 8 years of age.
The severity and appearance of the winged scapula varies by individuals as well as the muscles and/or nerves that were affected. Pain is not seen in every case. In a study of 13 individuals with facioscapulohumeral muscular dystrophy (FSH), none of the individuals complained of pain. Fatigue, however, was a common characteristic and all had noted that there were limitations in their activities of daily life.
In most cases of winged scapula, damage to the serratus anterior muscle causes the deformation of the back. The serratus anterior muscle attaches to the medial anterior aspect of the scapula (i.e. it attaches on the side closest to the spine and runs along the side of the scapula that faces the ribcage) and normally anchors the scapula against the rib cage. When the serratus anterior contracts, upward rotation, abduction, and weak elevation of the scapula occurs, allowing the arm to be raised above the head. The long thoracic nerve innervates the serratus anterior; therefore, damage to or impingement of this nerve can result in weakening or paralysis of the muscle. If this occurs, the scapula may slip away from the rib cage, giving it the wing-like appearance on the upper back. This characteristic may particularly be seen when the affected person pushes against resistance.
The person may also have limited ability to lift their arm above their head.
In facioscapulohumeral muscular dystrophy (FSH), the winged scapula is detected during contraction of the glenohumeral joint. In this movement, the glenohumeral joint atypically and concurrently abducts and the scapula internally rotates.
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.
Symptoms associated with scoliosis can include:
- Pain in back, shoulders, and neck and buttock pain nearest bottom of the back
- Respiratory and/or cardiac problems in severe cases
- Constipation due to curvature causing "tightening" of stomach, intestines, etc.
- Limited mobility secondary to pain or functional limitation in adults
- Painful menstruation
The signs of scoliosis can include:
- Uneven musculature on one side of the spine
- Rib prominence or a prominent shoulder blade, caused by rotation of the rib cage in thoracic scoliosis
- Uneven hips, arms or leg lengths
- Slow nerve action
- Heart and lung problems in severe cases
- Calcium deposits in the cartilage endplate and sometimes in the disc itself
A winged scapula (scapula alata) is a skeletal medical condition in which the shoulder blade, or shoulder bone, protrudes from a person’s back in an abnormal position. In rare conditions it has the potential to lead to limited functional activity in the upper extremity to which it is adjacent. It can affect a person’s ability to lift, pull, and push weighty objects. In some serious cases, the ability to perform activities of daily living such as changing one’s clothes and washing one’s hair may be hindered. The name of this condition comes from its appearance, a wing-like resemblance, due to the medial border of the scapula sticking straight out from the back. Scapular winging has been observed to disrupt scapulohumeral rhythm, contributing to decreased flexion and abduction of the upper extremity, as well as a loss in power and the source of considerable pain. A winged scapula is considered normal posture in young children, but not older children and adults.
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).
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).
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.