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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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After adolescence, some men and women use bodybuilding as a means to hide their malformation. Some women find that their breasts, if large enough, serve the same purpose. Some plastic surgeons perform breast augmentation to disguise mild to moderate cases in women. Bodybuilding is suggested for people with symmetrical pectus carinatum.
Pectus malformations are common; about 1 in 400 people have a pectus disorder.
Pectus carinatum is rarer than pectus excavatum, another pectus disorder, occurring in only about 20% of people with pectus malformations. About four out of five patients are males.
Malformations of the upper extremities can occur In the third to seventh embryonic week. In some cases the TPT is hereditary. In these cases, there is a mutation on chromosome 7q36. If the TPT is hereditary, it is mostly inherited as an autosomal dominant trait, non-opposable and bilateral. The sporadic cases are mostly opposable and unilateral.
Many vertebrates, especially reptiles, have cervical ribs as a normal part of their anatomy rather than a pathological condition. Some sauropods had exceptionally long cervical ribs; those of "Mamenchisaurus hochuanensis" were nearly 4 meters long.
In birds, the cervical ribs are small and completely fused to the vertebrae.
In mammals the ventral parts of the transverse processes of the cervical vertebrae are the fused-on cervical ribs.
Recent studies have also found a high percent of cervical ribs in woolly mammoths. It is believed that the decline in mammoth numbers may have forced inbreeding within the species which in turn has increased the number of mammoths being born with cervical ribs. Cervical ribs have been connected with leukaemia in human children, so it has given scientists new evidence to believe that the mammoth's extinction was attributed to the condition.
Triphalangeal thumb can occur in syndromes but it can also be isolated. The triphalangeal thumb can appear in combination with other malformations or syndromes.
Syndromes include:
- Holt-Oram syndrome
- Aase syndrome
- Blackfan-Diamond syndrome
- Townes-Brocks syndrome
Malformations include:
- Radial polydactyly
- Syndactyly
- Claw-like hand or foot
A bifid rib (bifurcated rib or sternum bifidum) is a congenital abnormality of the rib cage and associated muscles and nerves which occurs in about 1.2% of humans. Bifid ribs occur in up to 8.4% of Samoans. The sternal end of the rib is cleaved into two. It is usually unilateral.
Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest X-ray. Effects of this neuroskeletal anomaly can include respiratory difficulties, neurological difficulties, limitations, and limited energy from the stress of needing to compensate for the neurophysiological difficulties. Another association is with odontogenic keratocysts (OKC [a.k.a keratocystic odontogenic tumor (WHO terminology)]) of the jaw which may behave aggressively and have a high propensity to recur when treated with simple enucleation and curettage. When seen together, the patient is likely to have Nevoid Basal Cell Carcinoma Syndrome (a.k.a. Gorlin-Goltz syndrome) and should be evaluated with this in mind.
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.
According to the National Human Genome Research Institute, Poland syndrome affects males three times as often as females and affects the right side of the body twice as often as the left. The incidence is estimated to range from one in 7,000 to one in 100,000 live births.
One source of snapping scapula is when the muscles underneath the scapula (the subscapularis muscle) atrophies. This causes the scapula to become very close to the rib cage, eventually causing rubbing or bumping during arm/shoulder movement. Another cause is bursitis, which is when the tissues between the shoulder blade and thoracic wall inflame. Muscle and bone abnormalities in the shoulder area can also contribute to the pain.
A pelvic digit, pelvic finger, or pelvic rib is a rare congenital abnormality in humans, in which bone tissue develops in the soft tissue near the pelvis, resembling a rib or finger and often divided into one or more segments with pseudo-articulations. Pelvic digits are typically benign and asymptomatic, and are usually discovered accidentally. Approximately 41 cases have been reported.
The pelvic digit was first reported by D. Sullivan and W.S. Cornwell in 1974. Pelvic digits may be located at any level of the pelvis, the lower ribs, or even the anterior abdominal wall. It is theorized that pelvic digit anomalies arise during the mesenchymal stage of bone growth, within the first six weeks of embryogenesis. Their formation may result from a failure of the primordium of the coccyx to fuse to the vertebral column, leading to the independent development of a proto-rib structure.
The cause of Poland syndrome is unknown. However, an interruption of the embryonic blood supply to the arteries that lie under the collarbone (subclavian arteries) at about the 46th day of embryonic development is the prevailing theory.
The subclavian arteries normally supply blood to embryonic tissues that give rise to the chest wall and hand. Variations in the site and extent of the disruption may explain the range of signs and symptoms that occur in Poland syndrome. Abnormality of an embryonic structure called the apical ectodermal ridge, which helps direct early limb development, may also be involved in this disorder.
Rachitic rosary is due to a deficiency of calcium resulting in lack of mineralization and an overgrowth of costochondral joint cartilage. The calcium deficiency may be caused by Rickets or other causes of calcium deficiency such as hypoparathyroidism.
There are many causes of TOS. The most frequent cause is trauma, either sudden (as in a clavicle fracture caused by a car accident), or repetitive (as in a legal secretary who works with his/her hands, wrists, and arms at a fast paced desk station with non-ergonomic posture for many years). TOS is also found in certain occupations involving lots of lifting of the arms and repetitive use of the wrists and arms.
One cause of arterial compression is trauma, and a recent case involving fracture of the clavicle has been reported.
The two groups of people most likely to develop TOS are those suffering from neck injuries due to traffic accidents and those who use computers in non-ergonomic postures for extended periods of time. TOS is frequently a repetitive stress injury (RSI) caused by certain types of work environments. Other groups which may develop TOS are athletes who frequently raise their arms above the head (such as swimmers, volleyball players, dancers, badminton players, baseball pitchers, and weightlifters), rock climbers, electricians who work long hours with their hands above their heads, and some musicians.
Snapping Scapula Syndrome, also known as scapulocostal syndrome or scapulothoracic syndrome, is described by a “grating, grinding, popping or snapping sensation of the scapula onto the back side of the ribs or thoracic area of the spine” (Hauser). Disruption of the normal scapulothoracic mechanics causes this problem. The most common cases are found in young, active patients who tend to excessively use the overhead or throwing motion.
In a study on 21 patients with Type B ulnar polydactyly treated with suture ligation it was found that the duplicated digit was typically amputated at an average of 10 days and no complications of infection or bleeding were reported.
In a large study on 105 patients treated with suture ligation an overall complication rate of 23.5% was reported, citing a residual tender or unacceptable bump in 16%, infection in 6%, and bleeding in 1% of patients.
In general, suture ligation is safe and effective when applied to appropriate cases of Type B polydactyly in which no substantial ligamentous or osseous structures are present within the pedicle. Parents should be educated as to the progression of necrosis, and that revision of residual tissue or scar may be necessary when the child is 6 months of age or older.
Polydactyly or polydactylism (), also known as hyperdactyly, is a congenital physical anomaly in humans, dogs, and cats having supernumerary fingers or toes.
Polydactyly is the opposite of oligodactyly (fewer fingers or toes).
Diplopodia is a congenital anomaly in tetrapods that involves duplication of elements of the foot on the hind limb. It comes from the Greek roots diplo = "double" and pod = "foot". Diplopodia is often found in conjunction with other structural abnormalities and can be lethal. It is more extreme than polydactyly, the presence of extra digits.
Grynfeltt-Lesshaft hernia is a herniation of abdominal contents through the back, specifically through the superior lumbar triangle, which is defined by the quadratus lumborum muscle, twelfth rib, and internal oblique muscle.
Causes include:
- Rickets : Nodularity at costochondral junction (rachitic rosary).
- Scurvy : More angular costochondral junction with a sharper step-off (scorbutic rosary) and depressed sternum.
- Chondrodystrophy
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.
Supernumerary body parts are most commonly a congenital disorder involving the growth of an additional part of the body and a deviation from the body plan. Body parts may be easily visible or hidden away, such as internal organs.
Many additional body parts form by the same process as conjoined twins: the zygote begins to split but fails to completely separate. This condition may also be a symptom of repeated occurrences of continuous inbreeding in a genetic line.
Causes include
- Acute pancreatitis, whereby methemalbumin formed from digested blood tracks subcutaneously around the abdomen from the inflamed pancreas.
- Pancreatic hemorrhage
- Retroperitoneal hemorrhage
- Blunt abdominal trauma
- Ruptured / hemorrhagic ectopic pregnancy.
- Spontaneous bleeding secondary to coagulopathy (congenital or acquired)
- Aortic rupture, from ruptured abdominal aortic aneurysm or other causes.
TOS can be attributed to one or more of the following factors:
- Congenital abnormalities are frequently found in persons with TOS. These include cervical rib, prolonged transverse process, and muscular abnormalities (e.g., in the scalenus anterior muscle, a sickle-shaped scalenus medius) or fibrous connective tissue anomalies.
- Trauma (e.g., whiplash injuries) or repetitive strain is frequently implicated.
- Rarer acquired causes include tumors, hyperostosis, and osteomyelitis
Grynfeltt described a hernia through the superior lumbar triangle in 1866 (Grynfeltt, 1866). In 1870, Lesshaft independently reported a similar case (Lesshaft, 1870).
A winged scapula due to serratus anterior palsy is rare. In one report (Fardin et al.), there was an incidence of 15 cases out of 7,000 patients seen in the electromyographical laboratory. In another report (Overpeck and Ghormley), there was only one case out of 38,500 patients observed at the Mayo Clinic. In yet another report (Remak), there were three diagnoses of serratus anterior paralysis throughout a series of 12,000 neurological examinations.