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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)
Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
The bones of children are very malleable in infancy. This will generally mean that, despite the presence of a coalition, the bones can deform enough to allow painless walking until the child's skeleton has matured enough. 'Skeletal maturing' means that bone is laid down in the tissue that forms the immature bone shape gradually until adult bone is achieved at about the age of seventeen years in the feet. Other body parts reach skeletal maturity at different times. The onset of symptoms related to a tarsal coalition usually occurs at about nine to seventeen years of age, with a peak incidence occurring at ten to fourteen years of age. Symptoms may start suddenly one day and persist, and can include pain (may be quite severe), lack of endurance for activity, fatigue, muscle spasms and cramps, an inability to rotate the foot, or antalgic gait.
The diagnosis of constriction ring syndrome can be confirmed with an ultrasonography. The clinical manifestations can be extremely variable. It could be a single or multiple manifestation. This can be confirmed at the end of the first trimester or at the beginning of the second trimester. But not every patient will be diagnosed at that moment, most will get this diagnosis at birth.
The differential diagnosis includes;
- Symbrachydactyly
- Chorionic villus sampling
- Congenital amputations
- Hypoplasias of hand, digit, thumb
- Adams-Oliver syndrome
- ADAM complex
ADAM Complex; CRS is sometimes mislabeled as ADAM complex. ADAM is an abbreviation for Amniotic Deformity, Adhesions Mutilations. CRS is the malformation due to a constriction ring around mostly a limb. ADAM-complex is the association of limb defects (caused by constriction rings) and certain craniofacial clefts
“Adams-Oliver syndrome is often mislabeled as CRS and consists of cutis aplasia of the scalp in which a longitudinal defect can vary in size and can often be associated with full-thickness skullcap loss. The distal digital or toe hypoplasia-aplasia is often confused with CRS. Constriction rings with or without edema are not present. The digital or toe hypoplasia-aplasia usually contains diminutive nails or nail folds”.
Tarsal coalition (also known as peroneal spastic flatfoot, calcaneonavicular bar, talocalcaneal bar, tarsal synostosis, or tarsal dysostosis) is an abnormal connecting bridge of tissue between two normally-separate tarsal bones. The term 'coalition' means a coming together of two or more entities to merge into one mass. The tissue connecting the bones, often referred to as a "bar", may be composed of fibrous or osseous tissue. The two most common types of tarsal coalitions are calcaneo-navicular and talo-calcaneal, comprising 90% of all tarsal coalitions. There are other bone coalition combinations possible, but they are very rare. Symptoms tend to occur in the same location, regardless of the location of coalition: on the lateral foot, just anterior and below the lateral malleolus. This area is called the sinus tarsi.
Synostosis (plural: synostoses) is fusion of two bones. It can be normal in puberty, fusion of the epiphysis, or abnormal. When synostosis is abnormal it is a type of dysostosis.
Examples of synostoses include:
- craniosynostosis – an abnormal fusion of two or more cranial bones;
- radioulnar synostosis – the abnormal fusion of the radius and ulna bones of the forearm;
- tarsal coalition – a failure to separately form all seven bones of the tarsus (the hind part of the foot) resulting in an amalgamation of two bones; and
- syndactyly – the abnormal fusion of neighboring digits.
Synostosis within joints can cause ankylosis.
Radioulnar synostosis is one of the more common failures of separation of parts of the upper limb. There are two general types: one is characterized by fusion of the radius and ulna at their proximal borders and the other is fused distal to the proximal radial epiphysis. Most cases are sporadic, congenital (due to a defect in longitudinal segmentation at the 7th week of development) and less often post-traumatic, bilateral in 60%, and more common in males. Familial cases in association with autosomal dominant transmission appear to be concentrated in certain geographic regions, such as Sicily.
The condition frequently is not noted until late childhood, as function may be normal, especially in unilateral cases. Increased wrist motion may compensate for the absent forearm motion. It has been suggested that individuals whose forearms are fixed in greater amounts of pronation (over 60 degrees) face more problems with function than those with around 20 degrees of fixation. Pain is generally not a problem, unless radial head dislocation should occur.
Most examples of radioulnar synostosis are isolated (non-syndromic). Syndromes that may be accompanied by radioulnar synostosis include X chromosome polyploidy (e.g., XXXY) and other chromosome disorders (e.g., 4p- syndrome, Williams syndrome), acrofacial dysostosis, Antley–Bixler syndrome, genitopatellar syndrome, Greig cephalopolysyndactyly syndrome, hereditary multiple osteochondromas (hereditary multiple exostoses), limb-body wall complex, and Nievergelt syndrome.
Craniosynostosis (from cranio, cranium; + syn, together; + ostosis relating to bone) is a condition in which one or more of the fibrous sutures in an infant skull prematurely fuses by turning into bone (ossification). Craniosynostosis has following kinds: scaphocephaly, trigonocephaly, plagiocephaly, anterior plagiocephaly, posterior plagiocephaly, brachycephaly, oxycephaly, pansynostosis.
Chopart's fracture–dislocation is a dislocation of the mid-tarsal (talonavicular and calcaneocuboid) joints of the foot, often with associated fractures of the calcaneus, cuboid and navicular.
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.
On weightbearing projectional radiography, pes cavus can be diagnosed and graded by several features, the most important being medial peritalar subluxation, increased calcaneal pitch (variable) and abnormal "talar-1st metatarsal angle" (Meary's angle). Medial peritalar subluxation can be demonstrated by a medially rotated talonavicular coverage angle.
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.
Chopart's fracture–dislocation is usually caused by falls from height, traffic collisions and twisting injuries to the foot as seen in basketball players.
As with certain cases of flat feet, high arches may be painful due to metatarsal compression; however, high arches— particularly if they are flexible or properly cared-for—may be an asymptomatic condition.
People with pes cavus sometimes—though not always—have difficulty finding shoes that fit and may require support in their shoes. Children with high arches who have difficulty walking may wear specially-designed insoles, which are available in various sizes and can be made to order.
Individuals with pes cavus frequently report foot pain, which can lead to a significant limitation in function. The range of complaints reported in the literature include metatarsalgia, pain under the first metatarsal, plantar fasciitis, painful callosities, ankle arthritis, and Achilles tendonitis.
There are many other symptoms believed to be related to the cavus foot. These include shoe-fitting problems, lateral ankle instability, lower limb stress fractures, knee pain, iliotibial band friction syndrome, back pain and tripping.
Foot pain in people with pes cavus may result from abnormal plantar pressure loading because, structurally, the cavoid foot is regarded as being rigid and non-shock absorbent and having reduced ground contact area. There have previously been reports of an association between excessive plantar pressure and foot pathology in people with pes cavus.
Studies have shown children and adolescents with flat feet are a common occurrence. The human arch develops in infancy and early childhood as part of normal muscle, tendon, ligament and bone growth . Flat arches in children usually become high arches as the child progresses through adolescence and into adulthood. Since children are unlikely to suspect or identify flat feet on their own, it is important for adult caregivers to check on this themselves. Besides visual inspection, caregivers should notice when a child's gait is abnormal. Children who complain about calf muscle pains, arch pain, or any other pains around the foot area may be developing or have developed flat feet. Children with flat feet are at a higher risk of developing knee, hip, and back pain. A recent randomized controlled trial found no evidence for the efficacy of treatment of flat feet in children either from expensive prescribed orthotics i.e (shoe inserts) or less expensive over-the-counter orthotics. As a symptom itself, flat feet usually accompany genetic musculoskeletal conditions such as dyspraxia, ligamentous laxity or hypermobility.
Flat feet (also called pes planus or fallen arches) is a postural deformity in which the arches of the foot collapse, with the entire sole of the foot coming into complete or near-complete contact with the ground. Some individuals (an estimated 20–30% of the general population) have an arch that simply never develops in one foot (unilaterally) or both feet (bilaterally).
There is a functional relationship between the structure of the arch of the foot and the biomechanics of the lower leg. The arch provides an elastic, springy connection between the forefoot and the hind foot. This association safeguards so that a majority of the forces incurred during weight bearing of the foot can be dissipated before the force reaches the long bones of the leg and thigh.
In pes planus, the head of the talus bone is displaced medially and distal from the navicular. As a result, the Plantar calcaneonavicular ligament (spring ligament) and the tendon of the tibialis posterior muscle are stretched, so much so that the individual with pes planus loses the function of the medial longitudinal arch (MLA). If the MLA is absent or nonfunctional in both the seated and standing positions, the individual has “rigid” flatfoot. If the MLA is present and functional while the individual is sitting or standing up on their toes, but this arch disappears when assuming a foot-flat stance, the individual has “supple” flatfoot. This latter condition can be correctable with well-fitting arch supports.
Three studies (see citations below in military section) of military recruits have shown no evidence of later increased injury, or foot problems, due to flat feet, in a population of people who reach military service age without prior foot problems. However, these studies cannot be used to judge possible future damage from this condition when diagnosed at younger ages. They also cannot be applied to persons whose flat feet are associated with foot symptoms, or certain symptoms in other parts of the body (such as the leg or back) possibly referable to the foot.
The most common symptom is pain over the heel area, especially when the heel is palpated or squeezed. Patients usually have a history of recent trauma to the area or fall from a height. Other symptoms include: inability to bear weight over the involved foot, limited mobility of the foot, and limping. Upon inspection, the examiner may notice swelling, redness, and hematomas. A hematoma extending to the sole of the foot is called "Mondor Sign", and is pathognomonic for calcaneal fracture. The heel may also become widened with associated edema due to displacement of lateral calcaneal border. Involvement of soft tissue (tendons, skin, etc.,) should be evaluated because soft tissue injury has been associated to serious complications (see below).
A calcaneal fracture is a break of the calcaneus (heel bone). Symptoms may include pain, bruising, trouble walking, and deformity of the heel. It may be associated with breaks of the hip or back.
It usually occurs when a person lands on their feet following a fall from a height or during a motor vehicle collision. Diagnosis is suspected based on symptoms and confirmed by X-rays or CT scaning.
If the bones remain normally aligned treatment may be by casting without weight bearing for around eights weeks. If the bones are not properly aligned surgery is generally required. Returning the bones to their normal position results in better outcomes. Surgery may be delayed a few days as long as the skin remained intact.
About 2% of all fractures are calcaneal fractures, however, they make up 60% of fractures of the mid foot bones. Undisplaced fractures may heal in around three months while more significant fractures can take two years. Difficulties such as arthritis and decreased range of motion of the foot may remain.
Lisfranc injury, also known as Lisfranc fracture, is an injury of the foot in which one or more of the metatarsal bones are displaced from the tarsus. The injury is named after Jacques Lisfranc de St. Martin (2 April 179013 May 1847), a French surgeon and gynecologist who described an amputation of the foot through the tarsometatarsal articulation, in 1815, after the War of the Sixth Coalition.
There are three classifications for the fracture:
1. Homolateral: All five metatarsals are displaced in the same direction. Lateral displacement may also suggest cuboidal fracture.
2. Isolated: one or two metatarsals are displaced from the others.
3. Divergent: metatarsals are displaced in a sagittal or coronal plane and may also involve the intercuneiform area and include a navicular fracture.
Blast-related ocular trauma comprises a specialized group of penetrating and blunt force injuries to the eye and its structure caused by the detonation of explosive materials. The incidence of ocular trauma due to blast forces has increased dramatically with the introduction of new explosives technology into modern warfare. The availability of these volatile materials, coupled with the tactics of contemporary terrorism, has caused a rise in the number of homemade bombs capable of extreme physical harm.
The first noticeable symptom of breast cancer is typically a lump that feels different from the rest of the breast tissue. More than 80% of breast cancer cases are discovered when the woman feels a lump. The earliest breast cancers are detected by a mammogram. Lumps found in lymph nodes located in the armpits can also indicate breast cancer.
Indications of breast cancer other than a lump may include thickening different from the other breast tissue, one breast becoming larger or lower, a nipple changing position or shape or becoming inverted, skin puckering or dimpling, a rash on or around a nipple, discharge from nipple/s, constant pain in part of the breast or armpit, and swelling beneath the armpit or around the collarbone. Pain ("mastodynia") is an unreliable tool in determining the presence or absence of breast cancer, but may be indicative of other breast health issues.
Inflammatory breast cancer is a particular type of breast cancer which can pose a substantial diagnostic challenge. Symptoms may resemble a breast inflammation and may include itching, pain, swelling, nipple inversion, warmth and redness throughout the breast, as well as an orange-peel texture to the skin referred to as "peau d'orange". As inflammatory breast cancer does not present as a lump there can sometimes be a delay in diagnosis.
Another reported symptom complex of breast cancer is Paget's disease of the breast. This syndrome presents as skin changes resembling eczema, such as redness, discoloration, or mild flaking of the nipple skin. As Paget's disease of the breast advances, symptoms may include tingling, itching, increased sensitivity, burning, and pain. There may also be discharge from the nipple. Approximately half of women diagnosed with Paget's disease of the breast also have a lump in the breast.
In rare cases, what initially appears as a fibroadenoma (hard, movable non-cancerous lump) could in fact be a phyllodes tumor. Phyllodes tumors are formed within the stroma (connective tissue) of the breast and contain glandular as well as stromal tissue. Phyllodes tumors are not staged in the usual sense; they are classified on the basis of their appearance under the microscope as benign, borderline, or malignant.
Occasionally, breast cancer presents as metastatic disease—that is, cancer that has spread beyond the original organ. The symptoms caused by metastatic breast cancer will depend on the location of metastasis. Common sites of metastasis include bone, liver, lung and brain. Unexplained weight loss can occasionally signal breast cancer, as can symptoms of fevers or chills. Bone or joint pains can sometimes be manifestations of metastatic breast cancer, as can jaundice or neurological symptoms. These symptoms are called "non-specific", meaning they could be manifestations of many other illnesses.
Most symptoms of breast disorders, including most lumps, do not turn out to represent underlying breast cancer. Fewer than 20% of lumps, for example, are cancerous, and benign breast diseases such as mastitis and fibroadenoma of the breast are more common causes of breast disorder symptoms. Nevertheless, the appearance of a new symptom should be taken seriously by both patients and their doctors, because of the possibility of an underlying breast cancer at almost any age.
The severity of COVID-19 varies. The disease may take a mild course with few or no symptoms, resembling other common upper respiratory diseases such as the common cold. Mild cases typically recover within two weeks, while those with severe or critical diseases may take three to six weeks to recover. Among those who have died, the time from symptom onset to death has ranged from two to eight weeks.
Children are susceptible to the disease, but are likely to have milder symptoms and a lower chance of severe disease than adults; in those younger than 50 years, the risk of death is less than 0.5%, while in those older than 70 it is more than 8%. Pregnant women may be at higher risk for severe infection with COVID-19 based on data from other similar viruses, like SARS and MERS, but data for COVID-19 is lacking.
In some people, COVID-19 may affect the lungs causing pneumonia. In those most severely affected, COVID-19 may rapidly progress to acute respiratory distress syndrome (ARDS) causing respiratory failure, septic shock or multi-organ failure. Complications associated with COVID-19 include sepsis, abnormal clotting and damage to the heart, kidneys and liver. Clotting abnormalities, specifically an increase in prothrombin time, have been described in 6% of those admitted to hospital with COVID-19, while abnormal kidney function is seen in 4% of this group. Approximately 20-30% of people who present with COVID-19 demonstrate elevated liver enzymes (transaminases). Liver injury as shown by blood markers of liver damage is frequently seen in severe cases.
Some studies have found that the neutrophil to lymphocyte ratio (NLR) may be helpful in early screening for severe illness.
Many of those who die of COVID-19 have pre-existing (underlying) conditions, including hypertension, diabetes mellitus and cardiovascular disease. The Istituto Superiore di Sanità reported that out of 8.8% of deaths where medical charts were available for review, 97.2% of sampled patients had at least one comorbidity with the average patient having 2.7 diseases. According to the same report, the median time between onset of symptoms and death was ten days, with five being spent hospitalised. However, patients transferred to an ICU had a median time of seven days between hospitalisation and death. In a study of early cases, the median time from exhibiting initial symptoms to death was 14 days, with a full range of six to 41 days. In a study by the National Health Commission (NHC) of China, men had a death rate of 2.8% while women had a death rate of 1.7%. Histopathological examinations of post-mortem lung samples show diffuse alveolar damage with cellular fibromyxoid exudates in both lungs. Viral cytopathic changes were observed in the pneumocytes. The lung picture resembled acute respiratory distress syndrome (ARDS). In 11.8% of the deaths reported by the National Health Commission of China, heart damage was noted by elevated levels of troponin or cardiac arrest. According to March data from the United States, 89% of those hospitalised had preexisting conditions.
Availability of medical resources and the socioeconomics of a region may also affect mortality. Estimates of the mortality from the condition vary because of those regional differences, but also because of methodological difficulties. The under-counting of mild cases can cause the mortality rate to be overestimated. However, the fact that deaths are the result of cases contracted in the past can mean the current mortality rate is underestimated. Smokers were 1.4 times more likely to have severe symptoms of COVID-19 and approximately 2.4 times more likely to require intensive care or die compared to non-smokers.
Concerns have been raised about long-term sequelae of the disease. The Hong Kong Hospital Authority found a drop of 20% to 30% in lung capacity in some people who recovered from the disease, and lung scans suggested organ damage. This may also lead to post-intensive care syndrome following recovery.
Total infection fatality rate is estimated to be 0.66% (0.39–1.3). Infection fatality rate is fatality per all infected individuals, regardless of whether they were diagnosed or had any symptoms. Numbers in parentheses are 95% credible intervals for the estimates.
Early prostate cancer usually has no clear symptoms. Sometimes, however, prostate cancer does cause symptoms, often similar to those of diseases such as benign prostatic hyperplasia. These include frequent urination, nocturia (increased urination at night), difficulty starting and maintaining a steady stream of urine, hematuria (blood in the urine), and dysuria (painful urination). A study based on the 1998 Patient Care Evaluation in the US found that about a third of patients diagnosed with prostate cancer had one or more such symptoms, while two-thirds had no symptoms.
Prostate cancer is associated with urinary dysfunction as the prostate gland surrounds the prostatic urethra. Changes within the gland, therefore, directly affect urinary function. Because the "vas deferens" deposits seminal fluid into the prostatic urethra, and secretions from the prostate gland itself are included in semen content, prostate cancer may also cause problems with sexual function and performance, such as difficulty achieving erection or painful ejaculation.
Metastatic prostate cancer that has spread to other parts of the body can cause additional symptoms. The most common symptom is bone pain, often in the vertebrae (bones of the spine), pelvis, or ribs. Spread of cancer into other bones such as the femur is usually to the proximal or nearby part of the bone. Prostate cancer in the spine can also compress the spinal cord, causing tingling, leg weakness and urinary and fecal incontinence.
Gulf War syndrome (GWS), also known as Gulf War illnesses (GWI) and chronic multisymptom illness (CMI), is a chronic and multisymptomatic disorder affecting returning military veterans and civilian workers of the 1990–91 Gulf War. A wide range of acute and chronic symptoms have been linked to it, including fatigue, muscle pain, cognitive problems, rashes and diarrhea. Approximately 250,000 of the 697,000 U.S. veterans who served in the 1991 Gulf War are afflicted with enduring chronic multi-symptom illness, a condition with serious consequences. From 1995 to 2005, the health of combat veterans worsened in comparison with nondeployed veterans, with the onset of more new chronic diseases, functional impairment, repeated clinic visits and hospitalizations, chronic fatigue syndrome-like illness, posttraumatic stress disorder, and greater persistence of adverse health incidents. According to a report by the Iraq and Afghanistan Veterans of America, veterans of Iraq and Afghanistan may also suffer from the syndrome.
Suggested causes have included depleted uranium, sarin gas, smoke from burning oil wells, vaccinations, combat stress and psychological factors.
The U.S. Department of Veterans Affairs (VA) describes Gulf War syndrome as "Gulf War veterans' medically unexplained illnesses" and refers to it as chronic multisymptom illness (CMI) and undiagnosed illnesses. The VA also explains that it doesn't use the term "Gulf War syndrome" when referring to medically unexplained symptoms reported by Gulf War veterans because the symptoms vary widely.
About 96% of individuals with aortic dissection present with severe pain that had a sudden onset. The pain may be described as a tearing, stabbing, or sharp sensation; 17% of individuals feel the pain migrate as the dissection extends down the aorta. The location of pain is associated with the location of the dissection. Anterior chest pain is associated with dissections involving the ascending aorta, while interscapular (back) pain is associated with descending aortic dissections. If the pain is pleuritic in nature, it may suggest acute pericarditis caused by bleeding into the pericardial sac. This is a particularly dangerous eventuality, suggesting that acute pericardial tamponade may be imminent. Pericardial tamponade is the most common cause of death from aortic dissection.
While the pain may be confused with the pain of a myocardial infarction (heart attack), aortic dissection is usually not associated with the other signs that suggest myocardial infarction, including heart failure and ECG changes.
Individuals with aortic dissection who do not present with pain have a chronic dissection.
Less common symptoms that may be seen in the setting of aortic dissection include congestive heart failure (7%), fainting (9%), stroke (6%), ischemic peripheral neuropathy, paraplegia, and cardiac arrest. If the individual had a fainting episode, about half the time it is due to bleeding into the pericardium leading to pericardial tamponade.
Neurological complications of aortic dissection (i.e., stroke and paralysis) are due to the involvement of one or more arteries supplying portions of the central nervous system.
If the aortic dissection involves the abdominal aorta, compromise of the branches of the abdominal aorta is possible. In abdominal aortic dissections, compromise of one or both renal arteries occurs in 5–8% of cases, while mesenteric ischemia (ischemia of the large intestines) occurs 3–5% of the time.
People with an aortic dissection often have a history of high blood pressure; the blood pressure is quite variable at presentation with acute aortic dissection, and tends to be higher in individuals with a distal dissection. In individuals with a proximal aortic dissection, 36% present with hypertension, while 25% present with hypotension. Proximal aortic dissections tend to be more associated with weakening of the vascular wall due to cystic medial degeneration. In those who present with distal (type B) aortic dissections, 60-70% present with high blood pressure, while 2-3% present with low blood pressure.
Severe hypotension at presentation is a grave prognostic indicator. It is usually associated with pericardial tamponade, severe aortic insufficiency, or rupture of the aorta. Accurate measurement of the blood pressure is important. Pseudohypotension (falsely low blood-pressure measurement) may occur due to involvement of the brachiocephalic artery (supplying the right arm) or the left subclavian artery (supplying the left arm).